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 4 transcript(s)...
Querying Taster for transcript #1: ENST00000423582
Querying Taster for transcript #2: ENST00000292928
Querying Taster for transcript #3: ENST00000439428
Querying Taster for transcript #4: ENST00000435416
MT speed 0 s - this script 4.137665 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
ZNF382polymorphism_automatic0.217220084922291simple_aaeaffectedE119Gsingle base exchangers3108171show file
ZNF382polymorphism_automatic0.217220084922291simple_aaeaffectedE168Gsingle base exchangers3108171show file
ZNF382polymorphism_automatic0.217220084922291simple_aaeaffectedE167Gsingle base exchangers3108171show file
ZNF382polymorphism_automatic0.217220084922291simple_aaeaffectedE167Gsingle base exchangers3108171show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.782779915077709 (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) chr19:37117302A>GN/A show variant in all transcripts   IGV
HGNC symbol ZNF382
Ensembl transcript ID ENST00000423582
Genbank transcript ID N/A
UniProt peptide Q96SR6
alteration type single base exchange
alteration region CDS
DNA changes c.356A>G
cDNA.1065A>G
g.21584A>G
AA changes E119G Score: 98 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 119
frameshift no
known variant Reference ID: rs3108171
databasehomozygous (G/G)heterozygousallele carriers
1000G117510502225
ExAC25280-177937487
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me3, Histone, Histone 3 Lysine 9 Tri-Methylation
H4K20me3, Histone, Histone 4 Lysine 20 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.6311
0.9621
(flanking)1.9391
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained215830.62mu: GATGGGGGAAATCAC TGGG|ggaa
distance from splice site 271
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      119IKEKFGDSTGWEKSLLNTKHEKIH
mutated  not conserved    119IKEKFGDSTGWGKSLLNTKHEKI
Ptroglodytes  all identical  ENSPTRG00000010898  168IKEKFGDSTGWEKSLLNTKHEKI
Mmulatta  all identical  ENSMMUG00000016449  168IKEKFGDSTGWEKSLLSTKHEKI
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000074220  199AMGKLGGSKEWEGSILTSKQEKT
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
70211REGIONRepresses transcription (By similarity).lost
129130CONFLICTMissing (in Ref. 1; AAM48246, 2; AAO72308 and 3; BAB55217).might get lost (downstream of altered splice site)
212234ZN_FINGC2H2-type 1; degenerate.might get lost (downstream of altered splice site)
296318ZN_FINGC2H2-type 2.might get lost (downstream of altered splice site)
296550REGIONRequired for transcriptional repression activity; probably mediates sequence- specific DNA-binding (By similarity).might get lost (downstream of altered splice site)
324346ZN_FINGC2H2-type 3.might get lost (downstream of altered splice site)
352374ZN_FINGC2H2-type 4.might get lost (downstream of altered splice site)
380402ZN_FINGC2H2-type 5.might get lost (downstream of altered splice site)
408430ZN_FINGC2H2-type 6.might get lost (downstream of altered splice site)
436458ZN_FINGC2H2-type 7.might get lost (downstream of altered splice site)
464486ZN_FINGC2H2-type 8.might get lost (downstream of altered splice site)
492514ZN_FINGC2H2-type 9.might get lost (downstream of altered splice site)
520542ZN_FINGC2H2-type 10.might get lost (downstream of altered splice site)
547547CONFLICTT -> M (in Ref. 6; AAI32676).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1506 / 1506
position (AA) of stopcodon in wt / mu AA sequence 502 / 502
position of stopcodon in wt / mu cDNA 2215 / 2215
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 710 / 710
chromosome 19
strand 1
last intron/exon boundary 795
theoretical NMD boundary in CDS 35
length of CDS 1506
coding sequence (CDS) position 356
cDNA position
(for ins/del: last normal base / first normal base)		 1065
gDNA position
(for ins/del: last normal base / first normal base)		 21584
chromosomal position
(for ins/del: last normal base / first normal base)		 37117302
original gDNA sequence snippet TGGTGACAGTACTGGATGGGAGAAATCACTCCTCAATACCA
altered gDNA sequence snippet TGGTGACAGTACTGGATGGGGGAAATCACTCCTCAATACCA
original cDNA sequence snippet TGGTGACAGTACTGGATGGGAGAAATCACTCCTCAATACCA
altered cDNA sequence snippet TGGTGACAGTACTGGATGGGGGAAATCACTCCTCAATACCA
wildtype AA sequence MAKPDMIRKL EQGEELWTQR IFPSYSYLEE DGKTEDVLVK FKEYQDRHSR PLIFINHKKL
IKERSNIYGK TFTLGKNRIS KTILCEYKPD GKVLKNISEL VIRNISPIKE KFGDSTGWEK
SLLNTKHEKI HPAVNLHKQT ERVLSGKQEL IQHQKVQAPE QPFDHNECEK SFLMKGMLFT
HTRAHRGERT FEYNKDGIAF IEKSSLSVHP SNLMEKKPSA YNKYGKFLCR KPVFIMPQRP
QTEEKPFHCP YCGNNFRRKS YLIEHQRIHT GEKPYVCNQC GKAFRQKTAL TLHEKTHIEG
KPFICIDCGK SFRQKATLTR HHKTHTGEKA YECPQCGSAF RKKSYLIDHQ RTHTGEKPYQ
CNECGKAFIQ KTTLTVHQRT HTGEKPYICN ECGKSFCQKT TLTLHQRIHT GEKPYICNEC
GKSFRQKAIL TVHHRIHTGE KSNGCPQCGK AFSRKSNLIR HQKTHTGEKP YECKQCGKFF
SCKSNLIVHQ KTHKVETTGI Q*
mutated AA sequence MAKPDMIRKL EQGEELWTQR IFPSYSYLEE DGKTEDVLVK FKEYQDRHSR PLIFINHKKL
IKERSNIYGK TFTLGKNRIS KTILCEYKPD GKVLKNISEL VIRNISPIKE KFGDSTGWGK
SLLNTKHEKI HPAVNLHKQT ERVLSGKQEL IQHQKVQAPE QPFDHNECEK SFLMKGMLFT
HTRAHRGERT FEYNKDGIAF IEKSSLSVHP SNLMEKKPSA YNKYGKFLCR KPVFIMPQRP
QTEEKPFHCP YCGNNFRRKS YLIEHQRIHT GEKPYVCNQC GKAFRQKTAL TLHEKTHIEG
KPFICIDCGK SFRQKATLTR HHKTHTGEKA YECPQCGSAF RKKSYLIDHQ RTHTGEKPYQ
CNECGKAFIQ KTTLTVHQRT HTGEKPYICN ECGKSFCQKT TLTLHQRIHT GEKPYICNEC
GKSFRQKAIL TVHHRIHTGE KSNGCPQCGK AFSRKSNLIR HQKTHTGEKP YECKQCGKFF
SCKSNLIVHQ KTHKVETTGI Q*
speed 0.77 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: 0.782779915077709 (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) chr19:37117302A>GN/A show variant in all transcripts   IGV
HGNC symbol ZNF382
Ensembl transcript ID ENST00000292928
Genbank transcript ID NM_032825
UniProt peptide Q96SR6
alteration type single base exchange
alteration region CDS
DNA changes c.503A>G
cDNA.616A>G
g.21584A>G
AA changes E168G Score: 98 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 168
frameshift no
known variant Reference ID: rs3108171
databasehomozygous (G/G)heterozygousallele carriers
1000G117510502225
ExAC25280-177937487
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me3, Histone, Histone 3 Lysine 9 Tri-Methylation
H4K20me3, Histone, Histone 4 Lysine 20 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.6311
0.9621
(flanking)1.9391
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained215830.62mu: GATGGGGGAAATCAC TGGG|ggaa
distance from splice site 271
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      168IKEKFGDSTGWEKSLLNTKHEKIH
mutated  not conserved    168IKEKFGDSTGWGKSLLNTKHEKI
Ptroglodytes  all identical  ENSPTRG00000010898  168IKEKFGDSTGWEKSLLNTKHEKI
Mmulatta  all identical  ENSMMUG00000016449  168IKEKFGDSTGWEKSLLSTKHEKI
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000074220  197AMGKLGGSKEWEGSILTSKQEKT
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
70211REGIONRepresses transcription (By similarity).lost
212234ZN_FINGC2H2-type 1; degenerate.might get lost (downstream of altered splice site)
296318ZN_FINGC2H2-type 2.might get lost (downstream of altered splice site)
296550REGIONRequired for transcriptional repression activity; probably mediates sequence- specific DNA-binding (By similarity).might get lost (downstream of altered splice site)
324346ZN_FINGC2H2-type 3.might get lost (downstream of altered splice site)
352374ZN_FINGC2H2-type 4.might get lost (downstream of altered splice site)
380402ZN_FINGC2H2-type 5.might get lost (downstream of altered splice site)
408430ZN_FINGC2H2-type 6.might get lost (downstream of altered splice site)
436458ZN_FINGC2H2-type 7.might get lost (downstream of altered splice site)
464486ZN_FINGC2H2-type 8.might get lost (downstream of altered splice site)
492514ZN_FINGC2H2-type 9.might get lost (downstream of altered splice site)
520542ZN_FINGC2H2-type 10.might get lost (downstream of altered splice site)
547547CONFLICTT -> M (in Ref. 6; AAI32676).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1653 / 1653
position (AA) of stopcodon in wt / mu AA sequence 551 / 551
position of stopcodon in wt / mu cDNA 1766 / 1766
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 114 / 114
chromosome 19
strand 1
last intron/exon boundary 346
theoretical NMD boundary in CDS 182
length of CDS 1653
coding sequence (CDS) position 503
cDNA position
(for ins/del: last normal base / first normal base)		 616
gDNA position
(for ins/del: last normal base / first normal base)		 21584
chromosomal position
(for ins/del: last normal base / first normal base)		 37117302
original gDNA sequence snippet TGGTGACAGTACTGGATGGGAGAAATCACTCCTCAATACCA
altered gDNA sequence snippet TGGTGACAGTACTGGATGGGGGAAATCACTCCTCAATACCA
original cDNA sequence snippet TGGTGACAGTACTGGATGGGAGAAATCACTCCTCAATACCA
altered cDNA sequence snippet TGGTGACAGTACTGGATGGGGGAAATCACTCCTCAATACCA
wildtype AA sequence MPLQGSVSFK DVTVDFTQEE WQQLDPAQKA LYRDVMLENY CHFVSVGFHM AKPDMIRKLE
QGEELWTQRI FPSYSYLEED GKTEDVLVKF KEYQDRHSRP LIFINHKKLI KERSNIYGKT
FTLGKNRISK TILCEYKPDG KVLKNISELV IRNISPIKEK FGDSTGWEKS LLNTKHEKIH
PAVNLHKQTE RVLSGKQELI QHQKVQAPEQ PFDHNECEKS FLMKGMLFTH TRAHRGERTF
EYNKDGIAFI EKSSLSVHPS NLMEKKPSAY NKYGKFLCRK PVFIMPQRPQ TEEKPFHCPY
CGNNFRRKSY LIEHQRIHTG EKPYVCNQCG KAFRQKTALT LHEKTHIEGK PFICIDCGKS
FRQKATLTRH HKTHTGEKAY ECPQCGSAFR KKSYLIDHQR THTGEKPYQC NECGKAFIQK
TTLTVHQRTH TGEKPYICNE CGKSFCQKTT LTLHQRIHTG EKPYICNECG KSFRQKAILT
VHHRIHTGEK SNGCPQCGKA FSRKSNLIRH QKTHTGEKPY ECKQCGKFFS CKSNLIVHQK
THKVETTGIQ *
mutated AA sequence MPLQGSVSFK DVTVDFTQEE WQQLDPAQKA LYRDVMLENY CHFVSVGFHM AKPDMIRKLE
QGEELWTQRI FPSYSYLEED GKTEDVLVKF KEYQDRHSRP LIFINHKKLI KERSNIYGKT
FTLGKNRISK TILCEYKPDG KVLKNISELV IRNISPIKEK FGDSTGWGKS LLNTKHEKIH
PAVNLHKQTE RVLSGKQELI QHQKVQAPEQ PFDHNECEKS FLMKGMLFTH TRAHRGERTF
EYNKDGIAFI EKSSLSVHPS NLMEKKPSAY NKYGKFLCRK PVFIMPQRPQ TEEKPFHCPY
CGNNFRRKSY LIEHQRIHTG EKPYVCNQCG KAFRQKTALT LHEKTHIEGK PFICIDCGKS
FRQKATLTRH HKTHTGEKAY ECPQCGSAFR KKSYLIDHQR THTGEKPYQC NECGKAFIQK
TTLTVHQRTH TGEKPYICNE CGKSFCQKTT LTLHQRIHTG EKPYICNECG KSFRQKAILT
VHHRIHTGEK SNGCPQCGKA FSRKSNLIRH QKTHTGEKPY ECKQCGKFFS CKSNLIVHQK
THKVETTGIQ *
speed 0.90 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: 0.782779915077709 (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) chr19:37117302A>GN/A show variant in all transcripts   IGV
HGNC symbol ZNF382
Ensembl transcript ID ENST00000439428
Genbank transcript ID NM_001256838
UniProt peptide Q96SR6
alteration type single base exchange
alteration region CDS
DNA changes c.500A>G
cDNA.575A>G
g.21584A>G
AA changes E167G Score: 98 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 167
frameshift no
known variant Reference ID: rs3108171
databasehomozygous (G/G)heterozygousallele carriers
1000G117510502225
ExAC25280-177937487
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me3, Histone, Histone 3 Lysine 9 Tri-Methylation
H4K20me3, Histone, Histone 4 Lysine 20 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.6311
0.9621
(flanking)1.9391
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained215830.62mu: GATGGGGGAAATCAC TGGG|ggaa
distance from splice site 271
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      167IKEKFGDSTGWEKSLLNTKHEKIH
mutated  not conserved    167IKEKFGDSTGWGKSLLNTKHEKI
Ptroglodytes  all identical  ENSPTRG00000010898  168IKEKFGDSTGWEKSLLNTKHEKI
Mmulatta  all identical  ENSMMUG00000016449  168IKEKFGDSTGWEKSLLSTKHEKI
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000074220  198AMGKLGGSKEWEGSILTSKQEKT
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
70211REGIONRepresses transcription (By similarity).lost
212234ZN_FINGC2H2-type 1; degenerate.might get lost (downstream of altered splice site)
296318ZN_FINGC2H2-type 2.might get lost (downstream of altered splice site)
296550REGIONRequired for transcriptional repression activity; probably mediates sequence- specific DNA-binding (By similarity).might get lost (downstream of altered splice site)
324346ZN_FINGC2H2-type 3.might get lost (downstream of altered splice site)
352374ZN_FINGC2H2-type 4.might get lost (downstream of altered splice site)
380402ZN_FINGC2H2-type 5.might get lost (downstream of altered splice site)
408430ZN_FINGC2H2-type 6.might get lost (downstream of altered splice site)
436458ZN_FINGC2H2-type 7.might get lost (downstream of altered splice site)
464486ZN_FINGC2H2-type 8.might get lost (downstream of altered splice site)
492514ZN_FINGC2H2-type 9.might get lost (downstream of altered splice site)
520542ZN_FINGC2H2-type 10.might get lost (downstream of altered splice site)
547547CONFLICTT -> M (in Ref. 6; AAI32676).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1650 / 1650
position (AA) of stopcodon in wt / mu AA sequence 550 / 550
position of stopcodon in wt / mu cDNA 1725 / 1725
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 76 / 76
chromosome 19
strand 1
last intron/exon boundary 305
theoretical NMD boundary in CDS 179
length of CDS 1650
coding sequence (CDS) position 500
cDNA position
(for ins/del: last normal base / first normal base)		 575
gDNA position
(for ins/del: last normal base / first normal base)		 21584
chromosomal position
(for ins/del: last normal base / first normal base)		 37117302
original gDNA sequence snippet TGGTGACAGTACTGGATGGGAGAAATCACTCCTCAATACCA
altered gDNA sequence snippet TGGTGACAGTACTGGATGGGGGAAATCACTCCTCAATACCA
original cDNA sequence snippet TGGTGACAGTACTGGATGGGAGAAATCACTCCTCAATACCA
altered cDNA sequence snippet TGGTGACAGTACTGGATGGGGGAAATCACTCCTCAATACCA
wildtype AA sequence MSQGSVSFKD VTVDFTQEEW QQLDPAQKAL YRDVMLENYC HFVSVGFHMA KPDMIRKLEQ
GEELWTQRIF PSYSYLEEDG KTEDVLVKFK EYQDRHSRPL IFINHKKLIK ERSNIYGKTF
TLGKNRISKT ILCEYKPDGK VLKNISELVI RNISPIKEKF GDSTGWEKSL LNTKHEKIHP
AVNLHKQTER VLSGKQELIQ HQKVQAPEQP FDHNECEKSF LMKGMLFTHT RAHRGERTFE
YNKDGIAFIE KSSLSVHPSN LMEKKPSAYN KYGKFLCRKP VFIMPQRPQT EEKPFHCPYC
GNNFRRKSYL IEHQRIHTGE KPYVCNQCGK AFRQKTALTL HEKTHIEGKP FICIDCGKSF
RQKATLTRHH KTHTGEKAYE CPQCGSAFRK KSYLIDHQRT HTGEKPYQCN ECGKAFIQKT
TLTVHQRTHT GEKPYICNEC GKSFCQKTTL TLHQRIHTGE KPYICNECGK SFRQKAILTV
HHRIHTGEKS NGCPQCGKAF SRKSNLIRHQ KTHTGEKPYE CKQCGKFFSC KSNLIVHQKT
HKVETTGIQ*
mutated AA sequence MSQGSVSFKD VTVDFTQEEW QQLDPAQKAL YRDVMLENYC HFVSVGFHMA KPDMIRKLEQ
GEELWTQRIF PSYSYLEEDG KTEDVLVKFK EYQDRHSRPL IFINHKKLIK ERSNIYGKTF
TLGKNRISKT ILCEYKPDGK VLKNISELVI RNISPIKEKF GDSTGWGKSL LNTKHEKIHP
AVNLHKQTER VLSGKQELIQ HQKVQAPEQP FDHNECEKSF LMKGMLFTHT RAHRGERTFE
YNKDGIAFIE KSSLSVHPSN LMEKKPSAYN KYGKFLCRKP VFIMPQRPQT EEKPFHCPYC
GNNFRRKSYL IEHQRIHTGE KPYVCNQCGK AFRQKTALTL HEKTHIEGKP FICIDCGKSF
RQKATLTRHH KTHTGEKAYE CPQCGSAFRK KSYLIDHQRT HTGEKPYQCN ECGKAFIQKT
TLTVHQRTHT GEKPYICNEC GKSFCQKTTL TLHQRIHTGE KPYICNECGK SFRQKAILTV
HHRIHTGEKS NGCPQCGKAF SRKSNLIRHQ KTHTGEKPYE CKQCGKFFSC KSNLIVHQKT
HKVETTGIQ*
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: simple_aae, prob: 0.782779915077709 (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) chr19:37117302A>GN/A show variant in all transcripts   IGV
HGNC symbol ZNF382
Ensembl transcript ID ENST00000435416
Genbank transcript ID N/A
UniProt peptide Q96SR6
alteration type single base exchange
alteration region CDS
DNA changes c.500A>G
cDNA.1995A>G
g.21584A>G
AA changes E167G Score: 98 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 167
frameshift no
known variant Reference ID: rs3108171
databasehomozygous (G/G)heterozygousallele carriers
1000G117510502225
ExAC25280-177937487
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me3, Histone, Histone 3 Lysine 9 Tri-Methylation
H4K20me3, Histone, Histone 4 Lysine 20 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.6311
0.9621
(flanking)1.9391
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained215830.62mu: GATGGGGGAAATCAC TGGG|ggaa
distance from splice site 268
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      167IKEKFGDSTGWEKSLLNTKHEKIH
mutated  not conserved    167IKEKFGDSTGWGKSLLNTKHEKI
Ptroglodytes  all identical  ENSPTRG00000010898  168IKEKFGDSTGWEKSLLNTKHEKI
Mmulatta  all identical  ENSMMUG00000016449  168IKEKFGDSTGWEKSLLSTKHEKI
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000074220  197AMGKLGGSKEWEGSILTSKQEKT
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
70211REGIONRepresses transcription (By similarity).lost
212234ZN_FINGC2H2-type 1; degenerate.might get lost (downstream of altered splice site)
296318ZN_FINGC2H2-type 2.might get lost (downstream of altered splice site)
296550REGIONRequired for transcriptional repression activity; probably mediates sequence- specific DNA-binding (By similarity).might get lost (downstream of altered splice site)
324346ZN_FINGC2H2-type 3.might get lost (downstream of altered splice site)
352374ZN_FINGC2H2-type 4.might get lost (downstream of altered splice site)
380402ZN_FINGC2H2-type 5.might get lost (downstream of altered splice site)
408430ZN_FINGC2H2-type 6.might get lost (downstream of altered splice site)
436458ZN_FINGC2H2-type 7.might get lost (downstream of altered splice site)
464486ZN_FINGC2H2-type 8.might get lost (downstream of altered splice site)
492514ZN_FINGC2H2-type 9.might get lost (downstream of altered splice site)
520542ZN_FINGC2H2-type 10.might get lost (downstream of altered splice site)
547547CONFLICTT -> M (in Ref. 6; AAI32676).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1650 / 1650
position (AA) of stopcodon in wt / mu AA sequence 550 / 550
position of stopcodon in wt / mu cDNA 3145 / 3145
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 1496 / 1496
chromosome 19
strand 1
last intron/exon boundary 1728
theoretical NMD boundary in CDS 182
length of CDS 1650
coding sequence (CDS) position 500
cDNA position
(for ins/del: last normal base / first normal base)		 1995
gDNA position
(for ins/del: last normal base / first normal base)		 21584
chromosomal position
(for ins/del: last normal base / first normal base)		 37117302
original gDNA sequence snippet TGGTGACAGTACTGGATGGGAGAAATCACTCCTCAATACCA
altered gDNA sequence snippet TGGTGACAGTACTGGATGGGGGAAATCACTCCTCAATACCA
original cDNA sequence snippet TGGTGACAGTACTGGATGGGAGAAATCACTCCTCAATACCA
altered cDNA sequence snippet TGGTGACAGTACTGGATGGGGGAAATCACTCCTCAATACCA
wildtype AA sequence MPLQGSVSFK DVTVDFTQEE WQQLDPAQKA LYRDVMLENY CHFVSVGFHM AKPDMIRKLE
QGEELWTQRI FPSYSYLEDG KTEDVLVKFK EYQDRHSRPL IFINHKKLIK ERSNIYGKTF
TLGKNRISKT ILCEYKPDGK VLKNISELVI RNISPIKEKF GDSTGWEKSL LNTKHEKIHP
AVNLHKQTER VLSGKQELIQ HQKVQAPEQP FDHNECEKSF LMKGMLFTHT RAHRGERTFE
YNKDGIAFIE KSSLSVHPSN LMEKKPSAYN KYGKFLCRKP VFIMPQRPQT EEKPFHCPYC
GNNFRRKSYL IEHQRIHTGE KPYVCNQCGK AFRQKTALTL HEKTHIEGKP FICIDCGKSF
RQKATLTRHH KTHTGEKAYE CPQCGSAFRK KSYLIDHQRT HTGEKPYQCN ECGKAFIQKT
TLTVHQRTHT GEKPYICNEC GKSFCQKTTL TLHQRIHTGE KPYICNECGK SFRQKAILTV
HHRIHTGEKS NGCPQCGKAF SRKSNLIRHQ KTHTGEKPYE CKQCGKFFSC KSNLIVHQKT
HKVETTGIQ*
mutated AA sequence MPLQGSVSFK DVTVDFTQEE WQQLDPAQKA LYRDVMLENY CHFVSVGFHM AKPDMIRKLE
QGEELWTQRI FPSYSYLEDG KTEDVLVKFK EYQDRHSRPL IFINHKKLIK ERSNIYGKTF
TLGKNRISKT ILCEYKPDGK VLKNISELVI RNISPIKEKF GDSTGWGKSL LNTKHEKIHP
AVNLHKQTER VLSGKQELIQ HQKVQAPEQP FDHNECEKSF LMKGMLFTHT RAHRGERTFE
YNKDGIAFIE KSSLSVHPSN LMEKKPSAYN KYGKFLCRKP VFIMPQRPQT EEKPFHCPYC
GNNFRRKSYL IEHQRIHTGE KPYVCNQCGK AFRQKTALTL HEKTHIEGKP FICIDCGKSF
RQKATLTRHH KTHTGEKAYE CPQCGSAFRK KSYLIDHQRT HTGEKPYQCN ECGKAFIQKT
TLTVHQRTHT GEKPYICNEC GKSFCQKTTL TLHQRIHTGE KPYICNECGK SFRQKAILTV
HHRIHTGEKS NGCPQCGKAF SRKSNLIRHQ KTHTGEKPYE CKQCGKFFSC KSNLIVHQKT
HKVETTGIQ*
speed 0.60 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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Problems