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 3 transcript(s)...
Querying Taster for transcript #1: ENST00000328540
Querying Taster for transcript #2: ENST00000562360
Querying Taster for transcript #3: ENST00000566018
MT speed 3.66 s - this script 6.537667 s

Results


genesymbolpredictionprobabilitymodelprediction
problem
splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
BRICD5polymorphism_automatic1.00386032819699e-10simple_aaeV46Isingle base exchangers26857show file
BRICD5polymorphism_automatic1.00386032819699e-10simple_aaeV46Isingle base exchangers26857show file
BRICD5polymorphism_automatic1.00386032819699e-10simple_aaeV46Isingle base exchangers26857show file

Taster files

Yum, tasty mutations...

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999899614 (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
hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr16:2260567C>TN/A show variant in all transcripts   IGV
HGNC symbol BRICD5
Ensembl transcript ID ENST00000328540
Genbank transcript ID NM_182563
UniProt peptide Q6PL45
alteration type single base exchange
alteration region CDS
DNA changes c.136G>A
cDNA.1253G>A
g.1385G>A
AA changes V46I Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS
46
frameshift no
known variant Reference ID: rs26857
databasehomozygous (T/T)heterozygousallele carriers
1000G69711881885
ExAC15834109916933
regulatory features PolII, Polymerase, RNA Polymerase II
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H2BK5me1, Histone, Histone 2B Lysine 5 mono-methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.2910
0.1250
(flanking)-0.4510.001
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased1380wt: 0.2084 / mu: 0.2274 (marginal change - not scored)wt: GCTGCTGGTGCTGGCCGCTGTGGGGGTTGTGGCTGGAGGGC
mu: GCTGCTGGTGCTGGCCGCTGTGGGGATTGTGGCTGGAGGGC
 ctgt|GGGG
distance from splice site 45
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      46LLLLLVLAAVGVVAGGLLGSAQGP
mutated  all conserved    46LLLLLVLAAVGIVAGGLLGSAQG
Ptroglodytes  all identical  ENSPTRG00000007638  46LLLLLVLAAVGVVAGGLLGSAQG
Mmulatta  not conserved  ENSMMUG00000019233  46LLLLLALATAGAVAGGLLGFAQG
Fcatus  all identical  ENSFCAG00000007683  46LLL--ALAAAGVVAGGLLGFTHG
Mmusculus  no alignment  ENSMUSG00000045744  n/a
Ggallus  all conserved  ENSGALG00000005883  14LSIALLFAAVGISTGVILGFSHS
Trubripes  all identical  ENSTRUG00000016896  10LSLSVSLLLVITGIILTGHFG
Drerio  all identical  ENSDARG00000056247  53VMLLIVIIALGVTAH--LG-LQH
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no alignment  ENSXETG00000030772  n/a
protein features
start (aa)end (aa)featuredetails 
3252TRANSMEMHelical; (Potential).lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 687 / 687
position (AA) of stopcodon in wt / mu AA sequence 229 / 229
position of stopcodon in wt / mu cDNA 1804 / 1804
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 1118 / 1118
chromosome 16
strand -1
last intron/exon boundary 1710
theoretical NMD boundary in CDS 542
length of CDS 687
coding sequence (CDS) position 136
cDNA position
(for ins/del: last normal base / first normal base)
1253
gDNA position
(for ins/del: last normal base / first normal base)
1385
chromosomal position
(for ins/del: last normal base / first normal base)
2260567
original gDNA sequence snippet TGGTGCTGGCCGCTGTGGGGGTTGTGGCTGGAGGGCTTCTT
altered gDNA sequence snippet TGGTGCTGGCCGCTGTGGGGATTGTGGCTGGAGGGCTTCTT
original cDNA sequence snippet TGGTGCTGGCCGCTGTGGGGGTTGTGGCTGGAGGGCTTCTT
altered cDNA sequence snippet TGGTGCTGGCCGCTGTGGGGATTGTGGCTGGAGGGCTTCTT
wildtype AA sequence MEPASCCAER PKPGPTGVKT KPSCGGWRAV SLLLLLLLLV LAAVGVVAGG LLGSAQGPPK
PRLQTLRMTL PSPHMPRPNQ TILVDVARNA ATITVTPPQS NHSWAVLFDG QSGCICYRPE
EHQVCFLRLM EDSDRETLRL LVDTSKVQEA WVPSQDTHHT QELLAVQGSL EVDPAQAGAL
VQRLCMRTPI YWARRAEGPR RQRLIYLCID ICFPSNICVS VCFYYLPD*
mutated AA sequence MEPASCCAER PKPGPTGVKT KPSCGGWRAV SLLLLLLLLV LAAVGIVAGG LLGSAQGPPK
PRLQTLRMTL PSPHMPRPNQ TILVDVARNA ATITVTPPQS NHSWAVLFDG QSGCICYRPE
EHQVCFLRLM EDSDRETLRL LVDTSKVQEA WVPSQDTHHT QELLAVQGSL EVDPAQAGAL
VQRLCMRTPI YWARRAEGPR RQRLIYLCID ICFPSNICVS VCFYYLPD*
speed 1.19 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: 0.999999999899614 (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
hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr16:2260567C>TN/A show variant in all transcripts   IGV
HGNC symbol BRICD5
Ensembl transcript ID ENST00000566018
Genbank transcript ID N/A
UniProt peptide Q6PL45
alteration type single base exchange
alteration region CDS
DNA changes c.136G>A
cDNA.208G>A
g.1385G>A
AA changes V46I Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS
46
frameshift no
known variant Reference ID: rs26857
databasehomozygous (T/T)heterozygousallele carriers
1000G69711881885
ExAC15834109916933
regulatory features PolII, Polymerase, RNA Polymerase II
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H2BK5me1, Histone, Histone 2B Lysine 5 mono-methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.2910
0.1250
(flanking)-0.4510.001
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased1380wt: 0.2084 / mu: 0.2274 (marginal change - not scored)wt: GCTGCTGGTGCTGGCCGCTGTGGGGGTTGTGGCTGGAGGGC
mu: GCTGCTGGTGCTGGCCGCTGTGGGGATTGTGGCTGGAGGGC
 ctgt|GGGG
distance from splice site 45
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      46LLLLLVLAAVGVVAGGLLGSAQGP
mutated  all conserved    46LLLLLVLAAVGIVAGGLLGSAQG
Ptroglodytes  all identical  ENSPTRG00000007638  46LLLLLVLAAVGVVAGGLLGSAQG
Mmulatta  not conserved  ENSMMUG00000019233  46LLLLLALATAGAVAGGLLGFAQG
Fcatus  all identical  ENSFCAG00000007683  46LLL--ALAAAGVVAGGLLGFTHG
Mmusculus  no alignment  ENSMUSG00000045744  n/a
Ggallus  all conserved  ENSGALG00000005883  14LSIALLFAAVGISTGVILGFSHS
Trubripes  all identical  ENSTRUG00000016896  10LSLSVSLLLVITGIILTGHFG
Drerio  all identical  ENSDARG00000056247  53VMLLIVIIALGVTAH--LG-LQH
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no alignment  ENSXETG00000030772  n/a
protein features
start (aa)end (aa)featuredetails 
3252TRANSMEMHelical; (Potential).lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 462 / 462
position (AA) of stopcodon in wt / mu AA sequence 154 / 154
position of stopcodon in wt / mu cDNA 534 / 534
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 73 / 73
chromosome 16
strand -1
last intron/exon boundary 253
theoretical NMD boundary in CDS 130
length of CDS 462
coding sequence (CDS) position 136
cDNA position
(for ins/del: last normal base / first normal base)
208
gDNA position
(for ins/del: last normal base / first normal base)
1385
chromosomal position
(for ins/del: last normal base / first normal base)
2260567
original gDNA sequence snippet TGGTGCTGGCCGCTGTGGGGGTTGTGGCTGGAGGGCTTCTT
altered gDNA sequence snippet TGGTGCTGGCCGCTGTGGGGATTGTGGCTGGAGGGCTTCTT
original cDNA sequence snippet TGGTGCTGGCCGCTGTGGGGGTTGTGGCTGGAGGGCTTCTT
altered cDNA sequence snippet TGGTGCTGGCCGCTGTGGGGATTGTGGCTGGAGGGCTTCTT
wildtype AA sequence MEPASCCAER PKPGPTGVKT KPSCGGWRAV SLLLLLLLLV LAAVGVVAGG LLGSAQGPPK
PRLQTLRMTL PSPHMPRPNQ TILVDVARNA ATITVTPPQS NHSWAVLFDG QSVSGQGGVT
LAGVGLGGPA SPPCLPRAAS VTALRSTRSA SSA*
mutated AA sequence MEPASCCAER PKPGPTGVKT KPSCGGWRAV SLLLLLLLLV LAAVGIVAGG LLGSAQGPPK
PRLQTLRMTL PSPHMPRPNQ TILVDVARNA ATITVTPPQS NHSWAVLFDG QSVSGQGGVT
LAGVGLGGPA SPPCLPRAAS VTALRSTRSA SSA*
speed 1.17 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: 0.999999999899614 (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
hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr16:2260567C>TN/A show variant in all transcripts   IGV
HGNC symbol BRICD5
Ensembl transcript ID ENST00000562360
Genbank transcript ID N/A
UniProt peptide Q6PL45
alteration type single base exchange
alteration region CDS
DNA changes c.136G>A
cDNA.136G>A
g.1385G>A
AA changes V46I Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS
46
frameshift no
known variant Reference ID: rs26857
databasehomozygous (T/T)heterozygousallele carriers
1000G69711881885
ExAC15834109916933
regulatory features PolII, Polymerase, RNA Polymerase II
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H2BK5me1, Histone, Histone 2B Lysine 5 mono-methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.2910
0.1250
(flanking)-0.4510.001
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased1380wt: 0.2084 / mu: 0.2274 (marginal change - not scored)wt: GCTGCTGGTGCTGGCCGCTGTGGGGGTTGTGGCTGGAGGGC
mu: GCTGCTGGTGCTGGCCGCTGTGGGGATTGTGGCTGGAGGGC
 ctgt|GGGG
distance from splice site 45
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      46LLLLLVLAAVGVVAGGLLGSAQGP
mutated  all conserved    46LLLLLVLAAVGIVAGGLLGSAQG
Ptroglodytes  all identical  ENSPTRG00000007638  46LLLLLVLAAVGVVAGGLLGSAQG
Mmulatta  not conserved  ENSMMUG00000019233  46LLLLLALATAGAVAGGLLGFAQG
Fcatus  all identical  ENSFCAG00000007683  46LLL--ALAAAGVVAGGLLGFTHG
Mmusculus  no alignment  ENSMUSG00000045744  n/a
Ggallus  all conserved  ENSGALG00000005883  14LSIALLFAAVGISTGVILGFSHS
Trubripes  all identical  ENSTRUG00000016896  10LSLSVSLLLVITGIILTGHFG
Drerio  all identical  ENSDARG00000056247  53VMLLIVIIALGVTAH--LG-LQH
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no alignment  ENSXETG00000030772  n/a
protein features
start (aa)end (aa)featuredetails 
3252TRANSMEMHelical; (Potential).lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 783 / 783
position (AA) of stopcodon in wt / mu AA sequence 261 / 261
position of stopcodon in wt / mu cDNA 783 / 783
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 16
strand -1
last intron/exon boundary 439
theoretical NMD boundary in CDS 388
length of CDS 783
coding sequence (CDS) position 136
cDNA position
(for ins/del: last normal base / first normal base)
136
gDNA position
(for ins/del: last normal base / first normal base)
1385
chromosomal position
(for ins/del: last normal base / first normal base)
2260567
original gDNA sequence snippet TGGTGCTGGCCGCTGTGGGGGTTGTGGCTGGAGGGCTTCTT
altered gDNA sequence snippet TGGTGCTGGCCGCTGTGGGGATTGTGGCTGGAGGGCTTCTT
original cDNA sequence snippet TGGTGCTGGCCGCTGTGGGGGTTGTGGCTGGAGGGCTTCTT
altered cDNA sequence snippet TGGTGCTGGCCGCTGTGGGGATTGTGGCTGGAGGGCTTCTT
wildtype AA sequence MEPASCCAER PKPGPTGVKT KPSCGGWRAV SLLLLLLLLV LAAVGVVAGG LLGSAQGPPK
PRLQTLRMTL PSPHMPRPNQ TILVDVARNA ATITVTPPQS NHSWAVLFDG QSGCICYRPE
EHQVCFLRLM EDSDRETLRL LVDTSKVQEA WVPSQDTHHT QELLAVQGSL EVDPAQAGAL
VQRLCMRTPI YWARRAEGES GPLWGKARPS GWFEELGAEP LEIHGTLATG PRRQRLIYLC
IDICFPSNIC VSVCFYYLPD *
mutated AA sequence MEPASCCAER PKPGPTGVKT KPSCGGWRAV SLLLLLLLLV LAAVGIVAGG LLGSAQGPPK
PRLQTLRMTL PSPHMPRPNQ TILVDVARNA ATITVTPPQS NHSWAVLFDG QSGCICYRPE
EHQVCFLRLM EDSDRETLRL LVDTSKVQEA WVPSQDTHHT QELLAVQGSL EVDPAQAGAL
VQRLCMRTPI YWARRAEGES GPLWGKARPS GWFEELGAEP LEIHGTLATG PRRQRLIYLC
IDICFPSNIC VSVCFYYLPD *
speed 1.30 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

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