Yum, tasty mutations...

MutationTaster - study a chromosomal position

 MTQE documentation
NEVER press reload or F5 - unless you want to start from the very beginning.
input seems to be ok - now mapping the variant to the different transcripts...
found 11 transcript(s)...
Querying Taster for transcript #1: ENST00000313250
Querying Taster for transcript #2: ENST00000558263
Querying Taster for transcript #3: ENST00000543741
Querying Taster for transcript #4: ENST00000397075
Querying Taster for transcript #5: ENST00000397074
Querying Taster for transcript #6: ENST00000559632
Querying Taster for transcript #7: ENST00000558581
Querying Taster for transcript #8: ENST00000421831
Querying Taster for transcript #9: ENST00000397073
Querying Taster for transcript #10: ENST00000308178
Querying Taster for transcript #11: ENST00000382761
MT speed 0 s - this script 7.117458 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
DHRS4polymorphism_automatic9.83990666725276e-13simple_aaeaffectedA4Tsingle base exchangers17099455show file
DHRS4polymorphism_automatic9.83990666725276e-13simple_aaeaffectedA4Tsingle base exchangers17099455show file
DHRS4polymorphism_automatic9.83990666725276e-13simple_aaeaffectedA4Tsingle base exchangers17099455show file
DHRS4polymorphism_automatic9.83990666725276e-13simple_aaeaffectedA4Tsingle base exchangers17099455show file
DHRS4polymorphism_automatic9.83990666725276e-13simple_aaeaffectedA4Tsingle base exchangers17099455show file
DHRS4polymorphism_automatic9.83990666725276e-13simple_aaeaffectedA4Tsingle base exchangers17099455show file
DHRS4polymorphism_automatic9.83990666725276e-13simple_aaeaffectedA4Tsingle base exchangers17099455show file
DHRS4polymorphism_automatic0.000330339847991024without_aaeaffectedsingle base exchangers17099455show file
DHRS4polymorphism_automatic0.000330339847991024without_aaeaffectedsingle base exchangers17099455show file
DHRS4polymorphism_automatic0.000330339847991024without_aaeaffectedsingle base exchangers17099455show file
DHRS4polymorphism_automatic0.000330339847991024without_aaeaffectedsingle base exchangers17099455show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999016 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr14:24423007G>AN/A show variant in all transcripts   IGV
HGNC symbol DHRS4
Ensembl transcript ID ENST00000313250
Genbank transcript ID NM_021004
UniProt peptide Q9BTZ2
alteration type single base exchange
alteration region CDS
DNA changes c.10G>A
cDNA.213G>A
g.213G>A
AA changes A4T Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 4
frameshift no
known variant Reference ID: rs17099455
databasehomozygous (A/A)heterozygousallele carriers
1000G272444716
ExAC168171958876
regulatory features Promoter Associated, Regulatory Feature, Promoter like regulatory feature
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
Max, Transcription Factor, Max TF binding
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
PolII, Polymerase, RNA Polymerase II
H2AZ, Histone, Histone 2A variant Z
HEY1, Transcription Factor, HEY1 Transcription Factor Binding
Cmyc, Transcription Factor, Cmyc TF binding
H3K9ac, Histone, Histone 3 Lysine 9 Acetylation
Yy1, Transcription Factor, Yy1 Transcription Factor Binding
Sin3Ak20, Transcription Factor, Sin3Ak20 Transcription Factor Binding
H3K27ac, Histone, Histone 3 Lysine 27 Acetylation
TAF1, Transcription Factor, TAF1 Transcription Factor Binding
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation
DNase1, Open Chromatin, DNase1 Hypersensitive Site
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.350
0.7290.001
(flanking)-0.7310
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased203wt: 0.40 / mu: 0.47wt: CCATACTTGCTGGTCTGATCCATGCACAAGGCGGGGCTGCT
mu: CCATACTTGCTGGTCTGATCCATGCACAAGACGGGGCTGCT		 atcc|ATGC
Donor marginally increased206wt: 0.9698 / mu: 0.9749 (marginal change - not scored)wt: TCCATGCACAAGGCG
mu: TCCATGCACAAGACG		 CATG|caca
Donor increased211wt: 0.66 / mu: 0.92wt: GCACAAGGCGGGGCT
mu: GCACAAGACGGGGCT		 ACAA|ggcg
Donor gained2090.55mu: ATGCACAAGACGGGG GCAC|aaga
distance from splice site 119
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      4 MHKAGLLGLCARAWNS
mutated  not conserved    4 MHKTGLLGLCARAWNSVRMASS
Ptroglodytes  all identical  ENSPTRG00000042451  4 MHKAGLLGHCARARKSVRMASS
Mmulatta  all identical  ENSMMUG00000007465  4 MHKAGLLDLCVRAWNSVRMASS
Fcatus  no homologue    
Mmusculus  no homologue    
Ggallus  no homologue    
Trubripes  no alignment  ENSTRUG00000009010  n/a
Drerio  no alignment  ENSDARG00000021135  n/a
Dmelanogaster  no alignment  FBgn0035588  n/a
Celegans  no alignment  F36H9.3  n/a
Xtropicalis  no alignment  ENSXETG00000022566  n/a
protein features
start (aa)end (aa)featuredetails 
2932TURNmight get lost (downstream of altered splice site)
3439STRANDmight get lost (downstream of altered splice site)
3660NP_BINDNADP (By similarity).might get lost (downstream of altered splice site)
3737CONFLICTV -> A (in Ref. 8; BAA91953).might get lost (downstream of altered splice site)
4354HELIXmight get lost (downstream of altered splice site)
5050CONFLICTR -> W (in Ref. 7; ABC61321).might get lost (downstream of altered splice site)
5864STRANDmight get lost (downstream of altered splice site)
6678HELIXmight get lost (downstream of altered splice site)
8387STRANDmight get lost (downstream of altered splice site)
8989CONFLICTH -> M (in Ref. 4; AAQ13444).might get lost (downstream of altered splice site)
93107HELIXmight get lost (downstream of altered splice site)
102102CONFLICTT -> M (in Ref. 1; AAD02292).might get lost (downstream of altered splice site)
112115STRANDmight get lost (downstream of altered splice site)
126126CONFLICTI -> L (in Ref. 1; AAD02292).might get lost (downstream of altered splice site)
126128TURNmight get lost (downstream of altered splice site)
131141HELIXmight get lost (downstream of altered splice site)
143158HELIXmight get lost (downstream of altered splice site)
162167STRANDmight get lost (downstream of altered splice site)
169169BINDINGSubstrate (By similarity).might get lost (downstream of altered splice site)
170172HELIXmight get lost (downstream of altered splice site)
180200HELIXmight get lost (downstream of altered splice site)
182182ACT_SITEProton acceptor (By similarity).might get lost (downstream of altered splice site)
201203HELIXmight get lost (downstream of altered splice site)
205212STRANDmight get lost (downstream of altered splice site)
221223HELIXmight get lost (downstream of altered splice site)
227237HELIXmight get lost (downstream of altered splice site)
245248HELIXmight get lost (downstream of altered splice site)
249255HELIXmight get lost (downstream of altered splice site)
258260HELIXmight get lost (downstream of altered splice site)
267271STRANDmight get lost (downstream of altered splice site)
276278MOTIFMicrobody targeting signal.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 837 / 837
position (AA) of stopcodon in wt / mu AA sequence 279 / 279
position of stopcodon in wt / mu cDNA 1040 / 1040
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 204 / 204
chromosome 14
strand 1
last intron/exon boundary 926
theoretical NMD boundary in CDS 672
length of CDS 837
coding sequence (CDS) position 10
cDNA position
(for ins/del: last normal base / first normal base)		 213
gDNA position
(for ins/del: last normal base / first normal base)		 213
chromosomal position
(for ins/del: last normal base / first normal base)		 24423007
original gDNA sequence snippet TGGTCTGATCCATGCACAAGGCGGGGCTGCTAGGCCTCTGT
altered gDNA sequence snippet TGGTCTGATCCATGCACAAGACGGGGCTGCTAGGCCTCTGT
original cDNA sequence snippet TGGTCTGATCCATGCACAAGGCGGGGCTGCTAGGCCTCTGT
altered cDNA sequence snippet TGGTCTGATCCATGCACAAGACGGGGCTGCTAGGCCTCTGT
wildtype AA sequence MHKAGLLGLC ARAWNSVRMA SSGMTRRDPL ANKVALVTAS TDGIGFAIAR RLAQDGAHVV
VSSRKQQNVD QAVATLQGEG LSVTGTVCHV GKAEDRERLV ATAVKLHGGI DILVSNAAVN
PFFGSIMDVT EEVWDKTLDI NVKAPALMTK AVVPEMEKRG GGSVVIVSSI AAFSPSPGFS
PYNVSKTALL GLTKTLAIEL APRNIRVNCL APGLIKTSFS RMLWMDKEKE ESMKETLRIR
RLGEPEDCAG IVSFLCSEDA SYITGETVVV GGGTPSRL*
mutated AA sequence MHKTGLLGLC ARAWNSVRMA SSGMTRRDPL ANKVALVTAS TDGIGFAIAR RLAQDGAHVV
VSSRKQQNVD QAVATLQGEG LSVTGTVCHV GKAEDRERLV ATAVKLHGGI DILVSNAAVN
PFFGSIMDVT EEVWDKTLDI NVKAPALMTK AVVPEMEKRG GGSVVIVSSI AAFSPSPGFS
PYNVSKTALL GLTKTLAIEL APRNIRVNCL APGLIKTSFS RMLWMDKEKE ESMKETLRIR
RLGEPEDCAG IVSFLCSEDA SYITGETVVV GGGTPSRL*
speed 0.74 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999016 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr14:24423007G>AN/A show variant in all transcripts   IGV
HGNC symbol DHRS4
Ensembl transcript ID ENST00000543741
Genbank transcript ID N/A
UniProt peptide Q9BTZ2
alteration type single base exchange
alteration region CDS
DNA changes c.10G>A
cDNA.29G>A
g.213G>A
AA changes A4T Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 4
frameshift no
known variant Reference ID: rs17099455
databasehomozygous (A/A)heterozygousallele carriers
1000G272444716
ExAC168171958876
regulatory features Promoter Associated, Regulatory Feature, Promoter like regulatory feature
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
Max, Transcription Factor, Max TF binding
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
PolII, Polymerase, RNA Polymerase II
H2AZ, Histone, Histone 2A variant Z
HEY1, Transcription Factor, HEY1 Transcription Factor Binding
Cmyc, Transcription Factor, Cmyc TF binding
H3K9ac, Histone, Histone 3 Lysine 9 Acetylation
Yy1, Transcription Factor, Yy1 Transcription Factor Binding
Sin3Ak20, Transcription Factor, Sin3Ak20 Transcription Factor Binding
H3K27ac, Histone, Histone 3 Lysine 27 Acetylation
TAF1, Transcription Factor, TAF1 Transcription Factor Binding
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation
DNase1, Open Chromatin, DNase1 Hypersensitive Site
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.350
0.7290.001
(flanking)-0.7310
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased203wt: 0.40 / mu: 0.47wt: CCATACTTGCTGGTCTGATCCATGCACAAGGCGGGGCTGCT
mu: CCATACTTGCTGGTCTGATCCATGCACAAGACGGGGCTGCT		 atcc|ATGC
Donor marginally increased206wt: 0.9698 / mu: 0.9749 (marginal change - not scored)wt: TCCATGCACAAGGCG
mu: TCCATGCACAAGACG		 CATG|caca
Donor increased211wt: 0.66 / mu: 0.92wt: GCACAAGGCGGGGCT
mu: GCACAAGACGGGGCT		 ACAA|ggcg
Donor gained2090.55mu: ATGCACAAGACGGGG GCAC|aaga
distance from splice site 29
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      4 MHKAGLLGLCARAWNS
mutated  not conserved    4 MHKTGLLGLCARAWNSVRMASS
Ptroglodytes  all identical  ENSPTRG00000042451  4 MHKAGLLGHCARARKSVRMASS
Mmulatta  all identical  ENSMMUG00000007465  4 MHKAGLLDLCVRAWNSVRMASS
Fcatus  no homologue    
Mmusculus  no homologue    
Ggallus  no homologue    
Trubripes  no alignment  ENSTRUG00000009010  n/a
Drerio  no alignment  ENSDARG00000021135  n/a
Dmelanogaster  no alignment  FBgn0035588  n/a
Celegans  no alignment  F36H9.3  n/a
Xtropicalis  no alignment  ENSXETG00000022566  n/a
protein features
start (aa)end (aa)featuredetails 
2932TURNmight get lost (downstream of altered splice site)
3439STRANDmight get lost (downstream of altered splice site)
3660NP_BINDNADP (By similarity).might get lost (downstream of altered splice site)
3737CONFLICTV -> A (in Ref. 8; BAA91953).might get lost (downstream of altered splice site)
4354HELIXmight get lost (downstream of altered splice site)
5050CONFLICTR -> W (in Ref. 7; ABC61321).might get lost (downstream of altered splice site)
5864STRANDmight get lost (downstream of altered splice site)
6678HELIXmight get lost (downstream of altered splice site)
8387STRANDmight get lost (downstream of altered splice site)
8989CONFLICTH -> M (in Ref. 4; AAQ13444).might get lost (downstream of altered splice site)
93107HELIXmight get lost (downstream of altered splice site)
102102CONFLICTT -> M (in Ref. 1; AAD02292).might get lost (downstream of altered splice site)
112115STRANDmight get lost (downstream of altered splice site)
126126CONFLICTI -> L (in Ref. 1; AAD02292).might get lost (downstream of altered splice site)
126128TURNmight get lost (downstream of altered splice site)
131141HELIXmight get lost (downstream of altered splice site)
143158HELIXmight get lost (downstream of altered splice site)
162167STRANDmight get lost (downstream of altered splice site)
169169BINDINGSubstrate (By similarity).might get lost (downstream of altered splice site)
170172HELIXmight get lost (downstream of altered splice site)
180200HELIXmight get lost (downstream of altered splice site)
182182ACT_SITEProton acceptor (By similarity).might get lost (downstream of altered splice site)
201203HELIXmight get lost (downstream of altered splice site)
205212STRANDmight get lost (downstream of altered splice site)
221223HELIXmight get lost (downstream of altered splice site)
227237HELIXmight get lost (downstream of altered splice site)
245248HELIXmight get lost (downstream of altered splice site)
249255HELIXmight get lost (downstream of altered splice site)
258260HELIXmight get lost (downstream of altered splice site)
267271STRANDmight get lost (downstream of altered splice site)
276278MOTIFMicrobody targeting signal.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 468 / 468
position (AA) of stopcodon in wt / mu AA sequence 156 / 156
position of stopcodon in wt / mu cDNA 487 / 487
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 20 / 20
chromosome 14
strand 1
last intron/exon boundary 428
theoretical NMD boundary in CDS 358
length of CDS 468
coding sequence (CDS) position 10
cDNA position
(for ins/del: last normal base / first normal base)		 29
gDNA position
(for ins/del: last normal base / first normal base)		 213
chromosomal position
(for ins/del: last normal base / first normal base)		 24423007
original gDNA sequence snippet TGGTCTGATCCATGCACAAGGCGGGGCTGCTAGGCCTCTGT
altered gDNA sequence snippet TGGTCTGATCCATGCACAAGACGGGGCTGCTAGGCCTCTGT
original cDNA sequence snippet TGGTCTGATCCATGCACAAGGCGGGGCTGCTAGGCCTCTGT
altered cDNA sequence snippet TGGTCTGATCCATGCACAAGACGGGGCTGCTAGGCCTCTGT
wildtype AA sequence MHKAGLLGLC ARAWNSVRMA SSGMTRRDPL ANKVALVTAS TDGIGFAIAR RLAQDGAHVV
VSSRKQQNVD QAVATLQGEG LSVTGTVCHV GKAEDRERLV ATAVKLHGGI DILVSNAAVN
PFFGSIMDVT EEVWDKLWMD KEKEESMKET LRIRR*
mutated AA sequence MHKTGLLGLC ARAWNSVRMA SSGMTRRDPL ANKVALVTAS TDGIGFAIAR RLAQDGAHVV
VSSRKQQNVD QAVATLQGEG LSVTGTVCHV GKAEDRERLV ATAVKLHGGI DILVSNAAVN
PFFGSIMDVT EEVWDKLWMD KEKEESMKET LRIRR*
speed 1.03 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999016 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr14:24423007G>AN/A show variant in all transcripts   IGV
HGNC symbol DHRS4
Ensembl transcript ID ENST00000558263
Genbank transcript ID N/A
UniProt peptide Q9BTZ2
alteration type single base exchange
alteration region CDS
DNA changes c.10G>A
cDNA.65G>A
g.213G>A
AA changes A4T Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 4
frameshift no
known variant Reference ID: rs17099455
databasehomozygous (A/A)heterozygousallele carriers
1000G272444716
ExAC168171958876
regulatory features Promoter Associated, Regulatory Feature, Promoter like regulatory feature
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
Max, Transcription Factor, Max TF binding
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
PolII, Polymerase, RNA Polymerase II
H2AZ, Histone, Histone 2A variant Z
HEY1, Transcription Factor, HEY1 Transcription Factor Binding
Cmyc, Transcription Factor, Cmyc TF binding
H3K9ac, Histone, Histone 3 Lysine 9 Acetylation
Yy1, Transcription Factor, Yy1 Transcription Factor Binding
Sin3Ak20, Transcription Factor, Sin3Ak20 Transcription Factor Binding
H3K27ac, Histone, Histone 3 Lysine 27 Acetylation
TAF1, Transcription Factor, TAF1 Transcription Factor Binding
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation
DNase1, Open Chromatin, DNase1 Hypersensitive Site
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.350
0.7290.001
(flanking)-0.7310
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased203wt: 0.40 / mu: 0.47wt: CCATACTTGCTGGTCTGATCCATGCACAAGGCGGGGCTGCT
mu: CCATACTTGCTGGTCTGATCCATGCACAAGACGGGGCTGCT		 atcc|ATGC
Donor marginally increased206wt: 0.9698 / mu: 0.9749 (marginal change - not scored)wt: TCCATGCACAAGGCG
mu: TCCATGCACAAGACG		 CATG|caca
Donor increased211wt: 0.66 / mu: 0.92wt: GCACAAGGCGGGGCT
mu: GCACAAGACGGGGCT		 ACAA|ggcg
Donor gained2090.55mu: ATGCACAAGACGGGG GCAC|aaga
distance from splice site 65
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      4 MHKAGLLGLCARAWNS
mutated  not conserved    4 MHKTGLLGLCARAWNSVRMASS
Ptroglodytes  all identical  ENSPTRG00000042451  4 MHKAGLLGHCARARKSVRMASS
Mmulatta  all identical  ENSMMUG00000007465  4 MHKAGLLDLCVRAWNSVRMASS
Fcatus  no homologue    
Mmusculus  no homologue    
Ggallus  no homologue    
Trubripes  no alignment  ENSTRUG00000009010  n/a
Drerio  no alignment  ENSDARG00000021135  n/a
Dmelanogaster  no alignment  FBgn0035588  n/a
Celegans  no alignment  F36H9.3  n/a
Xtropicalis  no alignment  ENSXETG00000022566  n/a
protein features
start (aa)end (aa)featuredetails 
2932TURNmight get lost (downstream of altered splice site)
3439STRANDmight get lost (downstream of altered splice site)
3660NP_BINDNADP (By similarity).might get lost (downstream of altered splice site)
3737CONFLICTV -> A (in Ref. 8; BAA91953).might get lost (downstream of altered splice site)
4354HELIXmight get lost (downstream of altered splice site)
5050CONFLICTR -> W (in Ref. 7; ABC61321).might get lost (downstream of altered splice site)
5864STRANDmight get lost (downstream of altered splice site)
6678HELIXmight get lost (downstream of altered splice site)
8387STRANDmight get lost (downstream of altered splice site)
8989CONFLICTH -> M (in Ref. 4; AAQ13444).might get lost (downstream of altered splice site)
93107HELIXmight get lost (downstream of altered splice site)
102102CONFLICTT -> M (in Ref. 1; AAD02292).might get lost (downstream of altered splice site)
112115STRANDmight get lost (downstream of altered splice site)
126126CONFLICTI -> L (in Ref. 1; AAD02292).might get lost (downstream of altered splice site)
126128TURNmight get lost (downstream of altered splice site)
131141HELIXmight get lost (downstream of altered splice site)
143158HELIXmight get lost (downstream of altered splice site)
162167STRANDmight get lost (downstream of altered splice site)
169169BINDINGSubstrate (By similarity).might get lost (downstream of altered splice site)
170172HELIXmight get lost (downstream of altered splice site)
180200HELIXmight get lost (downstream of altered splice site)
182182ACT_SITEProton acceptor (By similarity).might get lost (downstream of altered splice site)
201203HELIXmight get lost (downstream of altered splice site)
205212STRANDmight get lost (downstream of altered splice site)
221223HELIXmight get lost (downstream of altered splice site)
227237HELIXmight get lost (downstream of altered splice site)
245248HELIXmight get lost (downstream of altered splice site)
249255HELIXmight get lost (downstream of altered splice site)
258260HELIXmight get lost (downstream of altered splice site)
267271STRANDmight get lost (downstream of altered splice site)
276278MOTIFMicrobody targeting signal.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 567 / 567
position (AA) of stopcodon in wt / mu AA sequence 189 / 189
position of stopcodon in wt / mu cDNA 622 / 622
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 56 / 56
chromosome 14
strand 1
last intron/exon boundary 572
theoretical NMD boundary in CDS 466
length of CDS 567
coding sequence (CDS) position 10
cDNA position
(for ins/del: last normal base / first normal base)		 65
gDNA position
(for ins/del: last normal base / first normal base)		 213
chromosomal position
(for ins/del: last normal base / first normal base)		 24423007
original gDNA sequence snippet TGGTCTGATCCATGCACAAGGCGGGGCTGCTAGGCCTCTGT
altered gDNA sequence snippet TGGTCTGATCCATGCACAAGACGGGGCTGCTAGGCCTCTGT
original cDNA sequence snippet TGGTCTGATCCATGCACAAGGCGGGGCTGCTAGGCCTCTGT
altered cDNA sequence snippet TGGTCTGATCCATGCACAAGACGGGGCTGCTAGGCCTCTGT
wildtype AA sequence MHKAGLLGLC ARAWNSVRMA SSGMTRRDPL ANKVALVTAS TDGIGFAIAR RLAQDGAHVV
VSSRKQQNVD QAVATLQGEG LSVTGTVCHV GKAEDRERLV ATAVKLHGGI DILVSNAAVN
PFFGSIMDVT EEVWDKRRLS GDRVFHSSLQ SISSLDGQGK RGKHERNPAD KKVRRARGLC
WHRVFPVL*
mutated AA sequence MHKTGLLGLC ARAWNSVRMA SSGMTRRDPL ANKVALVTAS TDGIGFAIAR RLAQDGAHVV
VSSRKQQNVD QAVATLQGEG LSVTGTVCHV GKAEDRERLV ATAVKLHGGI DILVSNAAVN
PFFGSIMDVT EEVWDKRRLS GDRVFHSSLQ SISSLDGQGK RGKHERNPAD KKVRRARGLC
WHRVFPVL*
speed 0.76 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999016 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr14:24423007G>AN/A show variant in all transcripts   IGV
HGNC symbol DHRS4
Ensembl transcript ID ENST00000397075
Genbank transcript ID N/A
UniProt peptide Q9BTZ2
alteration type single base exchange
alteration region CDS
DNA changes c.10G>A
cDNA.20G>A
g.213G>A
AA changes A4T Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 4
frameshift no
known variant Reference ID: rs17099455
databasehomozygous (A/A)heterozygousallele carriers
1000G272444716
ExAC168171958876
regulatory features Promoter Associated, Regulatory Feature, Promoter like regulatory feature
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
Max, Transcription Factor, Max TF binding
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
PolII, Polymerase, RNA Polymerase II
H2AZ, Histone, Histone 2A variant Z
HEY1, Transcription Factor, HEY1 Transcription Factor Binding
Cmyc, Transcription Factor, Cmyc TF binding
H3K9ac, Histone, Histone 3 Lysine 9 Acetylation
Yy1, Transcription Factor, Yy1 Transcription Factor Binding
Sin3Ak20, Transcription Factor, Sin3Ak20 Transcription Factor Binding
H3K27ac, Histone, Histone 3 Lysine 27 Acetylation
TAF1, Transcription Factor, TAF1 Transcription Factor Binding
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation
DNase1, Open Chromatin, DNase1 Hypersensitive Site
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.350
0.7290.001
(flanking)-0.7310
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased203wt: 0.40 / mu: 0.47wt: CCATACTTGCTGGTCTGATCCATGCACAAGGCGGGGCTGCT
mu: CCATACTTGCTGGTCTGATCCATGCACAAGACGGGGCTGCT		 atcc|ATGC
Donor marginally increased206wt: 0.9698 / mu: 0.9749 (marginal change - not scored)wt: TCCATGCACAAGGCG
mu: TCCATGCACAAGACG		 CATG|caca
Donor increased211wt: 0.66 / mu: 0.92wt: GCACAAGGCGGGGCT
mu: GCACAAGACGGGGCT		 ACAA|ggcg
Donor gained2090.55mu: ATGCACAAGACGGGG GCAC|aaga
distance from splice site 20
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      4 MHKAGLLGLCARAWNS
mutated  not conserved    4 MHKTGLLGLCARAWNSVRMASS
Ptroglodytes  all identical  ENSPTRG00000042451  4 MHKAGLLGHCARARKSVRMASS
Mmulatta  all identical  ENSMMUG00000007465  4 MHKAGLLDLCVRAWNSVRMASS
Fcatus  no homologue    
Mmusculus  no homologue    
Ggallus  no homologue    
Trubripes  no alignment  ENSTRUG00000009010  n/a
Drerio  no alignment  ENSDARG00000021135  n/a
Dmelanogaster  no alignment  FBgn0035588  n/a
Celegans  no alignment  F36H9.3  n/a
Xtropicalis  no alignment  ENSXETG00000022566  n/a
protein features
start (aa)end (aa)featuredetails 
2932TURNmight get lost (downstream of altered splice site)
3439STRANDmight get lost (downstream of altered splice site)
3660NP_BINDNADP (By similarity).might get lost (downstream of altered splice site)
3737CONFLICTV -> A (in Ref. 8; BAA91953).might get lost (downstream of altered splice site)
4354HELIXmight get lost (downstream of altered splice site)
5050CONFLICTR -> W (in Ref. 7; ABC61321).might get lost (downstream of altered splice site)
5864STRANDmight get lost (downstream of altered splice site)
6678HELIXmight get lost (downstream of altered splice site)
8387STRANDmight get lost (downstream of altered splice site)
8989CONFLICTH -> M (in Ref. 4; AAQ13444).might get lost (downstream of altered splice site)
93107HELIXmight get lost (downstream of altered splice site)
102102CONFLICTT -> M (in Ref. 1; AAD02292).might get lost (downstream of altered splice site)
112115STRANDmight get lost (downstream of altered splice site)
126126CONFLICTI -> L (in Ref. 1; AAD02292).might get lost (downstream of altered splice site)
126128TURNmight get lost (downstream of altered splice site)
131141HELIXmight get lost (downstream of altered splice site)
143158HELIXmight get lost (downstream of altered splice site)
162167STRANDmight get lost (downstream of altered splice site)
169169BINDINGSubstrate (By similarity).might get lost (downstream of altered splice site)
170172HELIXmight get lost (downstream of altered splice site)
180200HELIXmight get lost (downstream of altered splice site)
182182ACT_SITEProton acceptor (By similarity).might get lost (downstream of altered splice site)
201203HELIXmight get lost (downstream of altered splice site)
205212STRANDmight get lost (downstream of altered splice site)
221223HELIXmight get lost (downstream of altered splice site)
227237HELIXmight get lost (downstream of altered splice site)
245248HELIXmight get lost (downstream of altered splice site)
249255HELIXmight get lost (downstream of altered splice site)
258260HELIXmight get lost (downstream of altered splice site)
267271STRANDmight get lost (downstream of altered splice site)
276278MOTIFMicrobody targeting signal.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 579 / 579
position (AA) of stopcodon in wt / mu AA sequence 193 / 193
position of stopcodon in wt / mu cDNA 589 / 589
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 11 / 11
chromosome 14
strand 1
last intron/exon boundary 475
theoretical NMD boundary in CDS 414
length of CDS 579
coding sequence (CDS) position 10
cDNA position
(for ins/del: last normal base / first normal base)		 20
gDNA position
(for ins/del: last normal base / first normal base)		 213
chromosomal position
(for ins/del: last normal base / first normal base)		 24423007
original gDNA sequence snippet TGGTCTGATCCATGCACAAGGCGGGGCTGCTAGGCCTCTGT
altered gDNA sequence snippet TGGTCTGATCCATGCACAAGACGGGGCTGCTAGGCCTCTGT
original cDNA sequence snippet GGTCTGATCCATGCACAAGGCGGGGCTGCTAGGCCTCTGT
altered cDNA sequence snippet GGTCTGATCCATGCACAAGACGGGGCTGCTAGGCCTCTGT
wildtype AA sequence MHKAGLLGLC ARAWNSVRMA SSGMTRRDPL ANKVALVTAS TDGIGFAIAR RLAQDGAHVV
VSSRKQQNVD QAVATLQGEG LSVTGTVCHV GKAEDRERLV ATAVKLHGGI DILVSNAAVN
PFFGSIMDVT EEVWDKLWMD KEKEESMKET LRIRRLGEPE DCAGIVSFLC SEDASYITGE
TVVVGGGTPS RL*
mutated AA sequence MHKTGLLGLC ARAWNSVRMA SSGMTRRDPL ANKVALVTAS TDGIGFAIAR RLAQDGAHVV
VSSRKQQNVD QAVATLQGEG LSVTGTVCHV GKAEDRERLV ATAVKLHGGI DILVSNAAVN
PFFGSIMDVT EEVWDKLWMD KEKEESMKET LRIRRLGEPE DCAGIVSFLC SEDASYITGE
TVVVGGGTPS RL*
speed 0.79 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999016 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr14:24423007G>AN/A show variant in all transcripts   IGV
HGNC symbol DHRS4
Ensembl transcript ID ENST00000397074
Genbank transcript ID N/A
UniProt peptide Q9BTZ2
alteration type single base exchange
alteration region CDS
DNA changes c.10G>A
cDNA.13G>A
g.213G>A
AA changes A4T Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 4
frameshift no
known variant Reference ID: rs17099455
databasehomozygous (A/A)heterozygousallele carriers
1000G272444716
ExAC168171958876
regulatory features Promoter Associated, Regulatory Feature, Promoter like regulatory feature
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
Max, Transcription Factor, Max TF binding
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
PolII, Polymerase, RNA Polymerase II
H2AZ, Histone, Histone 2A variant Z
HEY1, Transcription Factor, HEY1 Transcription Factor Binding
Cmyc, Transcription Factor, Cmyc TF binding
H3K9ac, Histone, Histone 3 Lysine 9 Acetylation
Yy1, Transcription Factor, Yy1 Transcription Factor Binding
Sin3Ak20, Transcription Factor, Sin3Ak20 Transcription Factor Binding
H3K27ac, Histone, Histone 3 Lysine 27 Acetylation
TAF1, Transcription Factor, TAF1 Transcription Factor Binding
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation
DNase1, Open Chromatin, DNase1 Hypersensitive Site
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.350
0.7290.001
(flanking)-0.7310
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased203wt: 0.40 / mu: 0.47wt: CCATACTTGCTGGTCTGATCCATGCACAAGGCGGGGCTGCT
mu: CCATACTTGCTGGTCTGATCCATGCACAAGACGGGGCTGCT		 atcc|ATGC
Donor marginally increased206wt: 0.9698 / mu: 0.9749 (marginal change - not scored)wt: TCCATGCACAAGGCG
mu: TCCATGCACAAGACG		 CATG|caca
Donor increased211wt: 0.66 / mu: 0.92wt: GCACAAGGCGGGGCT
mu: GCACAAGACGGGGCT		 ACAA|ggcg
Donor gained2090.55mu: ATGCACAAGACGGGG GCAC|aaga
distance from splice site 13
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      4 MHKAGLLGLCARAWNS
mutated  not conserved    4 MHKTGLLGLCARAWNSVRMASS
Ptroglodytes  all identical  ENSPTRG00000042451  4 MHKAGLLGHCARARKSVRMASS
Mmulatta  all identical  ENSMMUG00000007465  4 MHKAGLLDLCVRAWNSVRMASS
Fcatus  no homologue    
Mmusculus  no homologue    
Ggallus  no homologue    
Trubripes  no alignment  ENSTRUG00000009010  n/a
Drerio  no alignment  ENSDARG00000021135  n/a
Dmelanogaster  no alignment  FBgn0035588  n/a
Celegans  no alignment  F36H9.3  n/a
Xtropicalis  no alignment  ENSXETG00000022566  n/a
protein features
start (aa)end (aa)featuredetails 
2932TURNmight get lost (downstream of altered splice site)
3439STRANDmight get lost (downstream of altered splice site)
3660NP_BINDNADP (By similarity).might get lost (downstream of altered splice site)
3737CONFLICTV -> A (in Ref. 8; BAA91953).might get lost (downstream of altered splice site)
4354HELIXmight get lost (downstream of altered splice site)
5050CONFLICTR -> W (in Ref. 7; ABC61321).might get lost (downstream of altered splice site)
5864STRANDmight get lost (downstream of altered splice site)
6678HELIXmight get lost (downstream of altered splice site)
8387STRANDmight get lost (downstream of altered splice site)
8989CONFLICTH -> M (in Ref. 4; AAQ13444).might get lost (downstream of altered splice site)
93107HELIXmight get lost (downstream of altered splice site)
102102CONFLICTT -> M (in Ref. 1; AAD02292).might get lost (downstream of altered splice site)
112115STRANDmight get lost (downstream of altered splice site)
126126CONFLICTI -> L (in Ref. 1; AAD02292).might get lost (downstream of altered splice site)
126128TURNmight get lost (downstream of altered splice site)
131141HELIXmight get lost (downstream of altered splice site)
143158HELIXmight get lost (downstream of altered splice site)
162167STRANDmight get lost (downstream of altered splice site)
169169BINDINGSubstrate (By similarity).might get lost (downstream of altered splice site)
170172HELIXmight get lost (downstream of altered splice site)
180200HELIXmight get lost (downstream of altered splice site)
182182ACT_SITEProton acceptor (By similarity).might get lost (downstream of altered splice site)
201203HELIXmight get lost (downstream of altered splice site)
205212STRANDmight get lost (downstream of altered splice site)
221223HELIXmight get lost (downstream of altered splice site)
227237HELIXmight get lost (downstream of altered splice site)
245248HELIXmight get lost (downstream of altered splice site)
249255HELIXmight get lost (downstream of altered splice site)
258260HELIXmight get lost (downstream of altered splice site)
267271STRANDmight get lost (downstream of altered splice site)
276278MOTIFMicrobody targeting signal.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 477 / 477
position (AA) of stopcodon in wt / mu AA sequence 159 / 159
position of stopcodon in wt / mu cDNA 480 / 480
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 4 / 4
chromosome 14
strand 1
last intron/exon boundary 366
theoretical NMD boundary in CDS 312
length of CDS 477
coding sequence (CDS) position 10
cDNA position
(for ins/del: last normal base / first normal base)		 13
gDNA position
(for ins/del: last normal base / first normal base)		 213
chromosomal position
(for ins/del: last normal base / first normal base)		 24423007
original gDNA sequence snippet TGGTCTGATCCATGCACAAGGCGGGGCTGCTAGGCCTCTGT
altered gDNA sequence snippet TGGTCTGATCCATGCACAAGACGGGGCTGCTAGGCCTCTGT
original cDNA sequence snippet TCCATGCACAAGGCGGGGCTGCTAGGCCTCTGT
altered cDNA sequence snippet TCCATGCACAAGACGGGGCTGCTAGGCCTCTGT
wildtype AA sequence MHKAGLLGLC ARAWNSVRMA SSGMTRRDPL ANKVALVTAS TDGIGFAIAR RLAQDGAHVV
VSSRKQQNVD QAVATLQGEG LSVTGTVCHV GKAEDRERLV ATLWMDKEKE ESMKETLRIR
RLGEPEDCAG IVSFLCSEDA SYITGETVVV GGGTPSRL*
mutated AA sequence MHKTGLLGLC ARAWNSVRMA SSGMTRRDPL ANKVALVTAS TDGIGFAIAR RLAQDGAHVV
VSSRKQQNVD QAVATLQGEG LSVTGTVCHV GKAEDRERLV ATLWMDKEKE ESMKETLRIR
RLGEPEDCAG IVSFLCSEDA SYITGETVVV GGGTPSRL*
speed 0.79 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999016 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr14:24423007G>AN/A show variant in all transcripts   IGV
HGNC symbol DHRS4
Ensembl transcript ID ENST00000559632
Genbank transcript ID N/A
UniProt peptide Q9BTZ2
alteration type single base exchange
alteration region CDS
DNA changes c.10G>A
cDNA.10G>A
g.213G>A
AA changes A4T Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 4
frameshift no
known variant Reference ID: rs17099455
databasehomozygous (A/A)heterozygousallele carriers
1000G272444716
ExAC168171958876
regulatory features Promoter Associated, Regulatory Feature, Promoter like regulatory feature
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
Max, Transcription Factor, Max TF binding
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
PolII, Polymerase, RNA Polymerase II
H2AZ, Histone, Histone 2A variant Z
HEY1, Transcription Factor, HEY1 Transcription Factor Binding
Cmyc, Transcription Factor, Cmyc TF binding
H3K9ac, Histone, Histone 3 Lysine 9 Acetylation
Yy1, Transcription Factor, Yy1 Transcription Factor Binding
Sin3Ak20, Transcription Factor, Sin3Ak20 Transcription Factor Binding
H3K27ac, Histone, Histone 3 Lysine 27 Acetylation
TAF1, Transcription Factor, TAF1 Transcription Factor Binding
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation
DNase1, Open Chromatin, DNase1 Hypersensitive Site
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.350
0.7290.001
(flanking)-0.7310
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased206wt: 0.9698 / mu: 0.9749 (marginal change - not scored)wt: TCCATGCACAAGGCG
mu: TCCATGCACAAGACG		 CATG|caca
Donor increased211wt: 0.66 / mu: 0.92wt: GCACAAGGCGGGGCT
mu: GCACAAGACGGGGCT		 ACAA|ggcg
Donor gained2090.55mu: ATGCACAAGACGGGG GCAC|aaga
distance from splice site 10
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      4 MHKAGLLGLCARAWNS
mutated  not conserved    4 MHKTGLLGLCARAWNSVRMASS
Ptroglodytes  all identical  ENSPTRG00000042451  4 MHKAGLLGHCARARKSVRMASS
Mmulatta  all identical  ENSMMUG00000007465  4 MHKAGLLDLCVRAWNSVRMASS
Fcatus  no homologue    
Mmusculus  no homologue    
Ggallus  no homologue    
Trubripes  no alignment  ENSTRUG00000009010  n/a
Drerio  no alignment  ENSDARG00000021135  n/a
Dmelanogaster  no alignment  FBgn0035588  n/a
Celegans  no alignment  F36H9.3  n/a
Xtropicalis  no alignment  ENSXETG00000022566  n/a
protein features
start (aa)end (aa)featuredetails 
2932TURNmight get lost (downstream of altered splice site)
3439STRANDmight get lost (downstream of altered splice site)
3660NP_BINDNADP (By similarity).might get lost (downstream of altered splice site)
3737CONFLICTV -> A (in Ref. 8; BAA91953).might get lost (downstream of altered splice site)
4354HELIXmight get lost (downstream of altered splice site)
5050CONFLICTR -> W (in Ref. 7; ABC61321).might get lost (downstream of altered splice site)
5864STRANDmight get lost (downstream of altered splice site)
6678HELIXmight get lost (downstream of altered splice site)
8387STRANDmight get lost (downstream of altered splice site)
8989CONFLICTH -> M (in Ref. 4; AAQ13444).might get lost (downstream of altered splice site)
93107HELIXmight get lost (downstream of altered splice site)
102102CONFLICTT -> M (in Ref. 1; AAD02292).might get lost (downstream of altered splice site)
112115STRANDmight get lost (downstream of altered splice site)
126126CONFLICTI -> L (in Ref. 1; AAD02292).might get lost (downstream of altered splice site)
126128TURNmight get lost (downstream of altered splice site)
131141HELIXmight get lost (downstream of altered splice site)
143158HELIXmight get lost (downstream of altered splice site)
162167STRANDmight get lost (downstream of altered splice site)
169169BINDINGSubstrate (By similarity).might get lost (downstream of altered splice site)
170172HELIXmight get lost (downstream of altered splice site)
180200HELIXmight get lost (downstream of altered splice site)
182182ACT_SITEProton acceptor (By similarity).might get lost (downstream of altered splice site)
201203HELIXmight get lost (downstream of altered splice site)
205212STRANDmight get lost (downstream of altered splice site)
221223HELIXmight get lost (downstream of altered splice site)
227237HELIXmight get lost (downstream of altered splice site)
245248HELIXmight get lost (downstream of altered splice site)
249255HELIXmight get lost (downstream of altered splice site)
258260HELIXmight get lost (downstream of altered splice site)
267271STRANDmight get lost (downstream of altered splice site)
276278MOTIFMicrobody targeting signal.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 600 / 600
position (AA) of stopcodon in wt / mu AA sequence 200 / 200
position of stopcodon in wt / mu cDNA 600 / 600
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 1 / 1
chromosome 14
strand 1
last intron/exon boundary 486
theoretical NMD boundary in CDS 435
length of CDS 600
coding sequence (CDS) position 10
cDNA position
(for ins/del: last normal base / first normal base)		 10
gDNA position
(for ins/del: last normal base / first normal base)		 213
chromosomal position
(for ins/del: last normal base / first normal base)		 24423007
original gDNA sequence snippet TGGTCTGATCCATGCACAAGGCGGGGCTGCTAGGCCTCTGT
altered gDNA sequence snippet TGGTCTGATCCATGCACAAGACGGGGCTGCTAGGCCTCTGT
original cDNA sequence snippet ATGCACAAGGCGGGGCTGCTAGGCCTCTGT
altered cDNA sequence snippet ATGCACAAGACGGGGCTGCTAGGCCTCTGT
wildtype AA sequence MHKAGLLGLC ARAWNSVRMA SSGMTRRDPL ANKVALVTAS TDGIGFAIAR RLAQDGAHVV
VSSRKQQNVD QAVATLQGEG LSVTGTVCHV GKAEDRERLV ATTLDINVKA PALMTKAVVP
EMEKRGGGSV VIVSSIAAFS PSPLWMDKEK EESMKETLRI RRLGEPEDCA GIVSFLCSED
ASYITGETVV VGGGTPSRL*
mutated AA sequence MHKTGLLGLC ARAWNSVRMA SSGMTRRDPL ANKVALVTAS TDGIGFAIAR RLAQDGAHVV
VSSRKQQNVD QAVATLQGEG LSVTGTVCHV GKAEDRERLV ATTLDINVKA PALMTKAVVP
EMEKRGGGSV VIVSSIAAFS PSPLWMDKEK EESMKETLRI RRLGEPEDCA GIVSFLCSED
ASYITGETVV VGGGTPSRL*
speed 0.63 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999016 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr14:24423007G>AN/A show variant in all transcripts   IGV
HGNC symbol DHRS4
Ensembl transcript ID ENST00000558581
Genbank transcript ID N/A
UniProt peptide Q9BTZ2
alteration type single base exchange
alteration region CDS
DNA changes c.10G>A
cDNA.10G>A
g.213G>A
AA changes A4T Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 4
frameshift no
known variant Reference ID: rs17099455
databasehomozygous (A/A)heterozygousallele carriers
1000G272444716
ExAC168171958876
regulatory features Promoter Associated, Regulatory Feature, Promoter like regulatory feature
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
Max, Transcription Factor, Max TF binding
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
PolII, Polymerase, RNA Polymerase II
H2AZ, Histone, Histone 2A variant Z
HEY1, Transcription Factor, HEY1 Transcription Factor Binding
Cmyc, Transcription Factor, Cmyc TF binding
H3K9ac, Histone, Histone 3 Lysine 9 Acetylation
Yy1, Transcription Factor, Yy1 Transcription Factor Binding
Sin3Ak20, Transcription Factor, Sin3Ak20 Transcription Factor Binding
H3K27ac, Histone, Histone 3 Lysine 27 Acetylation
TAF1, Transcription Factor, TAF1 Transcription Factor Binding
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation
DNase1, Open Chromatin, DNase1 Hypersensitive Site
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.350
0.7290.001
(flanking)-0.7310
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased206wt: 0.9698 / mu: 0.9749 (marginal change - not scored)wt: TCCATGCACAAGGCG
mu: TCCATGCACAAGACG		 CATG|caca
Donor increased211wt: 0.66 / mu: 0.92wt: GCACAAGGCGGGGCT
mu: GCACAAGACGGGGCT		 ACAA|ggcg
Donor gained2090.55mu: ATGCACAAGACGGGG GCAC|aaga
distance from splice site 10
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      4 MHKAGLLGLCARAWNS
mutated  not conserved    4 MHKTGLLGLCARAWNSVRMASS
Ptroglodytes  all identical  ENSPTRG00000042451  4 MHKAGLLGHCARARKSVRMASS
Mmulatta  all identical  ENSMMUG00000007465  4 MHKAGLLDLCVRAWNSVRMASS
Fcatus  no homologue    
Mmusculus  no homologue    
Ggallus  no homologue    
Trubripes  no alignment  ENSTRUG00000009010  n/a
Drerio  no alignment  ENSDARG00000021135  n/a
Dmelanogaster  no alignment  FBgn0035588  n/a
Celegans  no alignment  F36H9.3  n/a
Xtropicalis  no alignment  ENSXETG00000022566  n/a
protein features
start (aa)end (aa)featuredetails 
2932TURNmight get lost (downstream of altered splice site)
3439STRANDmight get lost (downstream of altered splice site)
3660NP_BINDNADP (By similarity).might get lost (downstream of altered splice site)
3737CONFLICTV -> A (in Ref. 8; BAA91953).might get lost (downstream of altered splice site)
4354HELIXmight get lost (downstream of altered splice site)
5050CONFLICTR -> W (in Ref. 7; ABC61321).might get lost (downstream of altered splice site)
5864STRANDmight get lost (downstream of altered splice site)
6678HELIXmight get lost (downstream of altered splice site)
8387STRANDmight get lost (downstream of altered splice site)
8989CONFLICTH -> M (in Ref. 4; AAQ13444).might get lost (downstream of altered splice site)
93107HELIXmight get lost (downstream of altered splice site)
102102CONFLICTT -> M (in Ref. 1; AAD02292).might get lost (downstream of altered splice site)
112115STRANDmight get lost (downstream of altered splice site)
126126CONFLICTI -> L (in Ref. 1; AAD02292).might get lost (downstream of altered splice site)
126128TURNmight get lost (downstream of altered splice site)
131141HELIXmight get lost (downstream of altered splice site)
143158HELIXmight get lost (downstream of altered splice site)
162167STRANDmight get lost (downstream of altered splice site)
169169BINDINGSubstrate (By similarity).might get lost (downstream of altered splice site)
170172HELIXmight get lost (downstream of altered splice site)
180200HELIXmight get lost (downstream of altered splice site)
182182ACT_SITEProton acceptor (By similarity).might get lost (downstream of altered splice site)
201203HELIXmight get lost (downstream of altered splice site)
205212STRANDmight get lost (downstream of altered splice site)
221223HELIXmight get lost (downstream of altered splice site)
227237HELIXmight get lost (downstream of altered splice site)
245248HELIXmight get lost (downstream of altered splice site)
249255HELIXmight get lost (downstream of altered splice site)
258260HELIXmight get lost (downstream of altered splice site)
267271STRANDmight get lost (downstream of altered splice site)
276278MOTIFMicrobody targeting signal.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 735 / 735
position (AA) of stopcodon in wt / mu AA sequence 245 / 245
position of stopcodon in wt / mu cDNA 735 / 735
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 1 / 1
chromosome 14
strand 1
last intron/exon boundary 621
theoretical NMD boundary in CDS 570
length of CDS 735
coding sequence (CDS) position 10
cDNA position
(for ins/del: last normal base / first normal base)		 10
gDNA position
(for ins/del: last normal base / first normal base)		 213
chromosomal position
(for ins/del: last normal base / first normal base)		 24423007
original gDNA sequence snippet TGGTCTGATCCATGCACAAGGCGGGGCTGCTAGGCCTCTGT
altered gDNA sequence snippet TGGTCTGATCCATGCACAAGACGGGGCTGCTAGGCCTCTGT
original cDNA sequence snippet ATGCACAAGGCGGGGCTGCTAGGCCTCTGT
altered cDNA sequence snippet ATGCACAAGACGGGGCTGCTAGGCCTCTGT
wildtype AA sequence MHKAGLLGLC ARAWNSVRMA SSGMTRRDPL ANKVALVTAS TDGIGFAIAR RLAQDGAHVV
VSSRKQQNVD QAVATLQGEG LSVTGTVCHV GKAEDRERLV ATTLDINVKA PALMTKAVVP
EMEKRGGGSV VIVSSIAAFS PSPGFSPYNV SKTALLGLTK TLAIELAPRN IRVNCLAPGL
IKTSFSRMLW MDKEKEESMK ETLRIRRLGE PEDCAGIVSF LCSEDASYIT GETVVVGGGT
PSRL*
mutated AA sequence MHKTGLLGLC ARAWNSVRMA SSGMTRRDPL ANKVALVTAS TDGIGFAIAR RLAQDGAHVV
VSSRKQQNVD QAVATLQGEG LSVTGTVCHV GKAEDRERLV ATTLDINVKA PALMTKAVVP
EMEKRGGGSV VIVSSIAAFS PSPGFSPYNV SKTALLGLTK TLAIELAPRN IRVNCLAPGL
IKTSFSRMLW MDKEKEESMK ETLRIRRLGE PEDCAGIVSF LCSEDASYIT GETVVVGGGT
PSRL*
speed 0.88 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: without_aae, prob: 0.999669660152009 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr14:24423007G>AN/A show variant in all transcripts   IGV
HGNC symbol DHRS4
Ensembl transcript ID ENST00000421831
Genbank transcript ID N/A
UniProt peptide Q9BTZ2
alteration type single base exchange
alteration region 5'UTR
DNA changes cDNA.29G>A
g.213G>A
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs17099455
databasehomozygous (A/A)heterozygousallele carriers
1000G272444716
ExAC168171958876
regulatory features Promoter Associated, Regulatory Feature, Promoter like regulatory feature
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
Max, Transcription Factor, Max TF binding
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
PolII, Polymerase, RNA Polymerase II
H2AZ, Histone, Histone 2A variant Z
HEY1, Transcription Factor, HEY1 Transcription Factor Binding
Cmyc, Transcription Factor, Cmyc TF binding
H3K9ac, Histone, Histone 3 Lysine 9 Acetylation
Yy1, Transcription Factor, Yy1 Transcription Factor Binding
Sin3Ak20, Transcription Factor, Sin3Ak20 Transcription Factor Binding
H3K27ac, Histone, Histone 3 Lysine 27 Acetylation
TAF1, Transcription Factor, TAF1 Transcription Factor Binding
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation
DNase1, Open Chromatin, DNase1 Hypersensitive Site
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.350
0.7290.001
(flanking)-0.7310
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites splice site change before start ATG (at aa -18) | splice site change before start ATG (at aa -16) | splice site change before start ATG (at aa -15) |
effectgDNA positionscoredetection sequence  exon-intron border
Acc increased203wt: 0.40 / mu: 0.47wt: CCATACTTGCTGGTCTGATCCATGCACAAGGCGGGGCTGCT
mu: CCATACTTGCTGGTCTGATCCATGCACAAGACGGGGCTGCT		 atcc|ATGC
Donor marginally increased206wt: 0.9698 / mu: 0.9749 (marginal change - not scored)wt: TCCATGCACAAGGCG
mu: TCCATGCACAAGACG		 CATG|caca
Donor increased211wt: 0.66 / mu: 0.92wt: GCACAAGGCGGGGCT
mu: GCACAAGACGGGGCT		 ACAA|ggcg
Donor gained2090.55mu: ATGCACAAGACGGGG GCAC|aaga
distance from splice site 29
Kozak consensus sequence altered? no
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
2932TURNmight get lost (downstream of altered splice site)
3439STRANDmight get lost (downstream of altered splice site)
3660NP_BINDNADP (By similarity).might get lost (downstream of altered splice site)
3737CONFLICTV -> A (in Ref. 8; BAA91953).might get lost (downstream of altered splice site)
4354HELIXmight get lost (downstream of altered splice site)
5050CONFLICTR -> W (in Ref. 7; ABC61321).might get lost (downstream of altered splice site)
5864STRANDmight get lost (downstream of altered splice site)
6678HELIXmight get lost (downstream of altered splice site)
8387STRANDmight get lost (downstream of altered splice site)
8989CONFLICTH -> M (in Ref. 4; AAQ13444).might get lost (downstream of altered splice site)
93107HELIXmight get lost (downstream of altered splice site)
102102CONFLICTT -> M (in Ref. 1; AAD02292).might get lost (downstream of altered splice site)
112115STRANDmight get lost (downstream of altered splice site)
126126CONFLICTI -> L (in Ref. 1; AAD02292).might get lost (downstream of altered splice site)
126128TURNmight get lost (downstream of altered splice site)
131141HELIXmight get lost (downstream of altered splice site)
143158HELIXmight get lost (downstream of altered splice site)
162167STRANDmight get lost (downstream of altered splice site)
169169BINDINGSubstrate (By similarity).might get lost (downstream of altered splice site)
170172HELIXmight get lost (downstream of altered splice site)
180200HELIXmight get lost (downstream of altered splice site)
182182ACT_SITEProton acceptor (By similarity).might get lost (downstream of altered splice site)
201203HELIXmight get lost (downstream of altered splice site)
205212STRANDmight get lost (downstream of altered splice site)
221223HELIXmight get lost (downstream of altered splice site)
227237HELIXmight get lost (downstream of altered splice site)
245248HELIXmight get lost (downstream of altered splice site)
249255HELIXmight get lost (downstream of altered splice site)
258260HELIXmight get lost (downstream of altered splice site)
267271STRANDmight get lost (downstream of altered splice site)
276278MOTIFMicrobody targeting signal.might get lost (downstream of altered splice site)
length of protein N/A
AA sequence altered N/A
position of stopcodon in wt / mu CDS N/A
position (AA) of stopcodon in wt / mu AA sequence N/A
position of stopcodon in wt / mu cDNA N/A
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 74 / 74
chromosome 14
strand 1
last intron/exon boundary 640
theoretical NMD boundary in CDS 516
length of CDS 681
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)		 29
gDNA position
(for ins/del: last normal base / first normal base)		 213
chromosomal position
(for ins/del: last normal base / first normal base)		 24423007
original gDNA sequence snippet TGGTCTGATCCATGCACAAGGCGGGGCTGCTAGGCCTCTGT
altered gDNA sequence snippet TGGTCTGATCCATGCACAAGACGGGGCTGCTAGGCCTCTGT
original cDNA sequence snippet TGGTCTGATCCATGCACAAGGCGGGGCTGCTAGGCCTCTGT
altered cDNA sequence snippet TGGTCTGATCCATGCACAAGACGGGGCTGCTAGGCCTCTGT
wildtype AA sequence MASSGMTRRD PLANKVALVT ASTDGIGFAI ARRLAQDGAH VVVSSRKQQN VDQAVATLQG
EGLSVTGTVC HVGKAEDRER LVATTLDINV KAPALMTKAV VPEMEKRGGG SVVIVSSIAA
FSPSPGFSPY NVSKTALLGL TKTLAIELAP RNIRVNCLAP GLIKTSFSRM LWMDKEKEES
MKETLRIRRL GEPEDCAGIV SFLCSEDASY ITGETVVVGG GTPSRL*
mutated AA sequence N/A
speed 0.49 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: without_aae, prob: 0.999669660152009 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr14:24423007G>AN/A show variant in all transcripts   IGV
HGNC symbol DHRS4
Ensembl transcript ID ENST00000397073
Genbank transcript ID N/A
UniProt peptide Q9BTZ2
alteration type single base exchange
alteration region 5'UTR
DNA changes cDNA.29G>A
g.213G>A
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs17099455
databasehomozygous (A/A)heterozygousallele carriers
1000G272444716
ExAC168171958876
regulatory features Promoter Associated, Regulatory Feature, Promoter like regulatory feature
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
Max, Transcription Factor, Max TF binding
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
PolII, Polymerase, RNA Polymerase II
H2AZ, Histone, Histone 2A variant Z
HEY1, Transcription Factor, HEY1 Transcription Factor Binding
Cmyc, Transcription Factor, Cmyc TF binding
H3K9ac, Histone, Histone 3 Lysine 9 Acetylation
Yy1, Transcription Factor, Yy1 Transcription Factor Binding
Sin3Ak20, Transcription Factor, Sin3Ak20 Transcription Factor Binding
H3K27ac, Histone, Histone 3 Lysine 27 Acetylation
TAF1, Transcription Factor, TAF1 Transcription Factor Binding
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation
DNase1, Open Chromatin, DNase1 Hypersensitive Site
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.350
0.7290.001
(flanking)-0.7310
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites splice site change before start ATG (at aa -18) | splice site change before start ATG (at aa -16) | splice site change before start ATG (at aa -15) |
effectgDNA positionscoredetection sequence  exon-intron border
Acc increased203wt: 0.40 / mu: 0.47wt: CCATACTTGCTGGTCTGATCCATGCACAAGGCGGGGCTGCT
mu: CCATACTTGCTGGTCTGATCCATGCACAAGACGGGGCTGCT		 atcc|ATGC
Donor marginally increased206wt: 0.9698 / mu: 0.9749 (marginal change - not scored)wt: TCCATGCACAAGGCG
mu: TCCATGCACAAGACG		 CATG|caca
Donor increased211wt: 0.66 / mu: 0.92wt: GCACAAGGCGGGGCT
mu: GCACAAGACGGGGCT		 ACAA|ggcg
Donor gained2090.55mu: ATGCACAAGACGGGG GCAC|aaga
distance from splice site 29
Kozak consensus sequence altered? no
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
2932TURNmight get lost (downstream of altered splice site)
3439STRANDmight get lost (downstream of altered splice site)
3660NP_BINDNADP (By similarity).might get lost (downstream of altered splice site)
3737CONFLICTV -> A (in Ref. 8; BAA91953).might get lost (downstream of altered splice site)
4354HELIXmight get lost (downstream of altered splice site)
5050CONFLICTR -> W (in Ref. 7; ABC61321).might get lost (downstream of altered splice site)
5864STRANDmight get lost (downstream of altered splice site)
6678HELIXmight get lost (downstream of altered splice site)
8387STRANDmight get lost (downstream of altered splice site)
8989CONFLICTH -> M (in Ref. 4; AAQ13444).might get lost (downstream of altered splice site)
93107HELIXmight get lost (downstream of altered splice site)
102102CONFLICTT -> M (in Ref. 1; AAD02292).might get lost (downstream of altered splice site)
112115STRANDmight get lost (downstream of altered splice site)
126126CONFLICTI -> L (in Ref. 1; AAD02292).might get lost (downstream of altered splice site)
126128TURNmight get lost (downstream of altered splice site)
131141HELIXmight get lost (downstream of altered splice site)
143158HELIXmight get lost (downstream of altered splice site)
162167STRANDmight get lost (downstream of altered splice site)
169169BINDINGSubstrate (By similarity).might get lost (downstream of altered splice site)
170172HELIXmight get lost (downstream of altered splice site)
180200HELIXmight get lost (downstream of altered splice site)
182182ACT_SITEProton acceptor (By similarity).might get lost (downstream of altered splice site)
201203HELIXmight get lost (downstream of altered splice site)
205212STRANDmight get lost (downstream of altered splice site)
221223HELIXmight get lost (downstream of altered splice site)
227237HELIXmight get lost (downstream of altered splice site)
245248HELIXmight get lost (downstream of altered splice site)
249255HELIXmight get lost (downstream of altered splice site)
258260HELIXmight get lost (downstream of altered splice site)
267271STRANDmight get lost (downstream of altered splice site)
276278MOTIFMicrobody targeting signal.might get lost (downstream of altered splice site)
length of protein N/A
AA sequence altered N/A
position of stopcodon in wt / mu CDS N/A
position (AA) of stopcodon in wt / mu AA sequence N/A
position of stopcodon in wt / mu cDNA N/A
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 74 / 74
chromosome 14
strand 1
last intron/exon boundary 505
theoretical NMD boundary in CDS 381
length of CDS 546
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)		 29
gDNA position
(for ins/del: last normal base / first normal base)		 213
chromosomal position
(for ins/del: last normal base / first normal base)		 24423007
original gDNA sequence snippet TGGTCTGATCCATGCACAAGGCGGGGCTGCTAGGCCTCTGT
altered gDNA sequence snippet TGGTCTGATCCATGCACAAGACGGGGCTGCTAGGCCTCTGT
original cDNA sequence snippet TGGTCTGATCCATGCACAAGGCGGGGCTGCTAGGCCTCTGT
altered cDNA sequence snippet TGGTCTGATCCATGCACAAGACGGGGCTGCTAGGCCTCTGT
wildtype AA sequence MASSGMTRRD PLANKVALVT ASTDGIGFAI ARRLAQDGAH VVVSSRKQQN VDQAVATLQG
EGLSVTGTVC HVGKAEDRER LVATTLDINV KAPALMTKAV VPEMEKRGGG SVVIVSSIAA
FSPSPLWMDK EKEESMKETL RIRRLGEPED CAGIVSFLCS EDASYITGET VVVGGGTPSR
L*
mutated AA sequence N/A
speed 0.54 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: without_aae, prob: 0.999669660152009 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr14:24423007G>AN/A show variant in all transcripts   IGV
HGNC symbol DHRS4
Ensembl transcript ID ENST00000308178
Genbank transcript ID N/A
UniProt peptide Q9BTZ2
alteration type single base exchange
alteration region 5'UTR
DNA changes cDNA.29G>A
g.213G>A
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs17099455
databasehomozygous (A/A)heterozygousallele carriers
1000G272444716
ExAC168171958876
regulatory features Promoter Associated, Regulatory Feature, Promoter like regulatory feature
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
Max, Transcription Factor, Max TF binding
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
PolII, Polymerase, RNA Polymerase II
H2AZ, Histone, Histone 2A variant Z
HEY1, Transcription Factor, HEY1 Transcription Factor Binding
Cmyc, Transcription Factor, Cmyc TF binding
H3K9ac, Histone, Histone 3 Lysine 9 Acetylation
Yy1, Transcription Factor, Yy1 Transcription Factor Binding
Sin3Ak20, Transcription Factor, Sin3Ak20 Transcription Factor Binding
H3K27ac, Histone, Histone 3 Lysine 27 Acetylation
TAF1, Transcription Factor, TAF1 Transcription Factor Binding
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation
DNase1, Open Chromatin, DNase1 Hypersensitive Site
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.350
0.7290.001
(flanking)-0.7310
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites splice site change before start ATG (at aa -18) | splice site change before start ATG (at aa -16) | splice site change before start ATG (at aa -15) |
effectgDNA positionscoredetection sequence  exon-intron border
Acc increased203wt: 0.40 / mu: 0.47wt: CCATACTTGCTGGTCTGATCCATGCACAAGGCGGGGCTGCT
mu: CCATACTTGCTGGTCTGATCCATGCACAAGACGGGGCTGCT		 atcc|ATGC
Donor marginally increased206wt: 0.9698 / mu: 0.9749 (marginal change - not scored)wt: TCCATGCACAAGGCG
mu: TCCATGCACAAGACG		 CATG|caca
Donor increased211wt: 0.66 / mu: 0.92wt: GCACAAGGCGGGGCT
mu: GCACAAGACGGGGCT		 ACAA|ggcg
Donor gained2090.55mu: ATGCACAAGACGGGG GCAC|aaga
distance from splice site 29
Kozak consensus sequence altered? no
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
2932TURNmight get lost (downstream of altered splice site)
3439STRANDmight get lost (downstream of altered splice site)
3660NP_BINDNADP (By similarity).might get lost (downstream of altered splice site)
3737CONFLICTV -> A (in Ref. 8; BAA91953).might get lost (downstream of altered splice site)
4354HELIXmight get lost (downstream of altered splice site)
5050CONFLICTR -> W (in Ref. 7; ABC61321).might get lost (downstream of altered splice site)
5864STRANDmight get lost (downstream of altered splice site)
6678HELIXmight get lost (downstream of altered splice site)
8387STRANDmight get lost (downstream of altered splice site)
8989CONFLICTH -> M (in Ref. 4; AAQ13444).might get lost (downstream of altered splice site)
93107HELIXmight get lost (downstream of altered splice site)
102102CONFLICTT -> M (in Ref. 1; AAD02292).might get lost (downstream of altered splice site)
112115STRANDmight get lost (downstream of altered splice site)
126126CONFLICTI -> L (in Ref. 1; AAD02292).might get lost (downstream of altered splice site)
126128TURNmight get lost (downstream of altered splice site)
131141HELIXmight get lost (downstream of altered splice site)
143158HELIXmight get lost (downstream of altered splice site)
162167STRANDmight get lost (downstream of altered splice site)
169169BINDINGSubstrate (By similarity).might get lost (downstream of altered splice site)
170172HELIXmight get lost (downstream of altered splice site)
180200HELIXmight get lost (downstream of altered splice site)
182182ACT_SITEProton acceptor (By similarity).might get lost (downstream of altered splice site)
201203HELIXmight get lost (downstream of altered splice site)
205212STRANDmight get lost (downstream of altered splice site)
221223HELIXmight get lost (downstream of altered splice site)
227237HELIXmight get lost (downstream of altered splice site)
245248HELIXmight get lost (downstream of altered splice site)
249255HELIXmight get lost (downstream of altered splice site)
258260HELIXmight get lost (downstream of altered splice site)
267271STRANDmight get lost (downstream of altered splice site)
276278MOTIFMicrobody targeting signal.might get lost (downstream of altered splice site)
length of protein N/A
AA sequence altered N/A
position of stopcodon in wt / mu CDS N/A
position (AA) of stopcodon in wt / mu AA sequence N/A
position of stopcodon in wt / mu cDNA N/A
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 74 / 74
chromosome 14
strand 1
last intron/exon boundary 382
theoretical NMD boundary in CDS 258
length of CDS 423
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)		 29
gDNA position
(for ins/del: last normal base / first normal base)		 213
chromosomal position
(for ins/del: last normal base / first normal base)		 24423007
original gDNA sequence snippet TGGTCTGATCCATGCACAAGGCGGGGCTGCTAGGCCTCTGT
altered gDNA sequence snippet TGGTCTGATCCATGCACAAGACGGGGCTGCTAGGCCTCTGT
original cDNA sequence snippet TGGTCTGATCCATGCACAAGGCGGGGCTGCTAGGCCTCTGT
altered cDNA sequence snippet TGGTCTGATCCATGCACAAGACGGGGCTGCTAGGCCTCTGT
wildtype AA sequence MASSGMTRRD PLANKVALVT ASTDGIGFAI ARRLAQDGAH VVVSSRKQQN VDQAVATLQG
EGLSVTGTVC HVGKAEDRER LVATLWMDKE KEESMKETLR IRRLGEPEDC AGIVSFLCSE
DASYITGETV VVGGGTPSRL *
mutated AA sequence N/A
speed 0.61 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: without_aae, prob: 0.999669660152009 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr14:24423007G>AN/A show variant in all transcripts   IGV
HGNC symbol DHRS4
Ensembl transcript ID ENST00000382761
Genbank transcript ID N/A
UniProt peptide Q9BTZ2
alteration type single base exchange
alteration region 5'UTR
DNA changes cDNA.29G>A
g.213G>A
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs17099455
databasehomozygous (A/A)heterozygousallele carriers
1000G272444716
ExAC168171958876
regulatory features Promoter Associated, Regulatory Feature, Promoter like regulatory feature
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
Max, Transcription Factor, Max TF binding
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
PolII, Polymerase, RNA Polymerase II
H2AZ, Histone, Histone 2A variant Z
HEY1, Transcription Factor, HEY1 Transcription Factor Binding
Cmyc, Transcription Factor, Cmyc TF binding
H3K9ac, Histone, Histone 3 Lysine 9 Acetylation
Yy1, Transcription Factor, Yy1 Transcription Factor Binding
Sin3Ak20, Transcription Factor, Sin3Ak20 Transcription Factor Binding
H3K27ac, Histone, Histone 3 Lysine 27 Acetylation
TAF1, Transcription Factor, TAF1 Transcription Factor Binding
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation
DNase1, Open Chromatin, DNase1 Hypersensitive Site
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.350
0.7290.001
(flanking)-0.7310
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites splice site change before start ATG (at aa -18) | splice site change before start ATG (at aa -16) | splice site change before start ATG (at aa -15) |
effectgDNA positionscoredetection sequence  exon-intron border
Acc increased203wt: 0.40 / mu: 0.47wt: CCATACTTGCTGGTCTGATCCATGCACAAGGCGGGGCTGCT
mu: CCATACTTGCTGGTCTGATCCATGCACAAGACGGGGCTGCT		 atcc|ATGC
Donor marginally increased206wt: 0.9698 / mu: 0.9749 (marginal change - not scored)wt: TCCATGCACAAGGCG
mu: TCCATGCACAAGACG		 CATG|caca
Donor increased211wt: 0.66 / mu: 0.92wt: GCACAAGGCGGGGCT
mu: GCACAAGACGGGGCT		 ACAA|ggcg
Donor gained2090.55mu: ATGCACAAGACGGGG GCAC|aaga
distance from splice site 29
Kozak consensus sequence altered? no
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
2932TURNmight get lost (downstream of altered splice site)
3439STRANDmight get lost (downstream of altered splice site)
3660NP_BINDNADP (By similarity).might get lost (downstream of altered splice site)
3737CONFLICTV -> A (in Ref. 8; BAA91953).might get lost (downstream of altered splice site)
4354HELIXmight get lost (downstream of altered splice site)
5050CONFLICTR -> W (in Ref. 7; ABC61321).might get lost (downstream of altered splice site)
5864STRANDmight get lost (downstream of altered splice site)
6678HELIXmight get lost (downstream of altered splice site)
8387STRANDmight get lost (downstream of altered splice site)
8989CONFLICTH -> M (in Ref. 4; AAQ13444).might get lost (downstream of altered splice site)
93107HELIXmight get lost (downstream of altered splice site)
102102CONFLICTT -> M (in Ref. 1; AAD02292).might get lost (downstream of altered splice site)
112115STRANDmight get lost (downstream of altered splice site)
126126CONFLICTI -> L (in Ref. 1; AAD02292).might get lost (downstream of altered splice site)
126128TURNmight get lost (downstream of altered splice site)
131141HELIXmight get lost (downstream of altered splice site)
143158HELIXmight get lost (downstream of altered splice site)
162167STRANDmight get lost (downstream of altered splice site)
169169BINDINGSubstrate (By similarity).might get lost (downstream of altered splice site)
170172HELIXmight get lost (downstream of altered splice site)
180200HELIXmight get lost (downstream of altered splice site)
182182ACT_SITEProton acceptor (By similarity).might get lost (downstream of altered splice site)
201203HELIXmight get lost (downstream of altered splice site)
205212STRANDmight get lost (downstream of altered splice site)
221223HELIXmight get lost (downstream of altered splice site)
227237HELIXmight get lost (downstream of altered splice site)
245248HELIXmight get lost (downstream of altered splice site)
249255HELIXmight get lost (downstream of altered splice site)
258260HELIXmight get lost (downstream of altered splice site)
267271STRANDmight get lost (downstream of altered splice site)
276278MOTIFMicrobody targeting signal.might get lost (downstream of altered splice site)
length of protein N/A
AA sequence altered N/A
position of stopcodon in wt / mu CDS N/A
position (AA) of stopcodon in wt / mu AA sequence N/A
position of stopcodon in wt / mu cDNA N/A
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 74 / 74
chromosome 14
strand 1
last intron/exon boundary 536
theoretical NMD boundary in CDS 412
length of CDS 513
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)		 29
gDNA position
(for ins/del: last normal base / first normal base)		 213
chromosomal position
(for ins/del: last normal base / first normal base)		 24423007
original gDNA sequence snippet TGGTCTGATCCATGCACAAGGCGGGGCTGCTAGGCCTCTGT
altered gDNA sequence snippet TGGTCTGATCCATGCACAAGACGGGGCTGCTAGGCCTCTGT
original cDNA sequence snippet TGGTCTGATCCATGCACAAGGCGGGGCTGCTAGGCCTCTGT
altered cDNA sequence snippet TGGTCTGATCCATGCACAAGACGGGGCTGCTAGGCCTCTGT
wildtype AA sequence MASSGMTRRD PLANKVALVT ASTDGIGFAI ARRLAQDGAH VVVSSRKQQN VDQAVATLQG
EGLSVTGTVC HVGKAEDRER LVATAVKLHG GIDILVSNAA VNPFFGSIMD VTEEVWDKRR
LSGDRVFHSS LQSISSLDGQ GKRGKHERNP ADKKVRRARG LCWHRVFPVL *
mutated AA sequence N/A
speed 0.62 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
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