Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.99999999988176 (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) chr20:52675188G>TN/A show variant in all transcripts   IGV
HGNC symbol BCAS1
Ensembl transcript ID ENST00000371440
Genbank transcript ID N/A
UniProt peptide O75363
alteration type single base exchange
alteration region CDS
DNA changes c.70C>A
cDNA.408C>A
g.12117C>A
AA changes Q24K Score: 53 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 24
frameshift no
known variant Reference ID: rs394732
databasehomozygous (T/T)heterozygousallele carriers
1000G91110631974
ExAC14592358318175
regulatory features Promoter Associated, Regulatory Feature, Promoter like regulatory feature
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H2AZ, Histone, Histone 2A variant Z
DNase1, Open Chromatin, DNase1 Hypersensitive Site
phyloP / phastCons
PhyloPPhastCons
(flanking)2.6130.958
-0.2470.046
(flanking)0.0070.006
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites alteration within used splice site, likely to disturb normal splicing
effectgDNA positionscoredetection sequence  exon-intron border
Donor lost12119sequence motif lost- wt: CCAG|gtag
 mu: CAAG.gtag
Donor marginally increased12122wt: 0.9911 / mu: 0.9923 (marginal change - not scored)wt: CAGGTAGTGTAGTAA
mu: AAGGTAGTGTAGTAA		 GGTA|gtgt
Donor increased12111wt: 0.24 / mu: 0.31wt: CAGAGACTTACCAGG
mu: CAGAGACTTACAAGG		 GAGA|ctta
Donor marginally increased12114wt: 0.4592 / mu: 0.4900 (marginal change - not scored)wt: AGACTTACCAGGTAG
mu: AGACTTACAAGGTAG		 ACTT|acca
Donor marginally increased12117wt: 0.6190 / mu: 0.6387 (marginal change - not scored)wt: CTTACCAGGTAGTGT
mu: CTTACAAGGTAGTGT		 TACC|aggt
Donor gained121130.78mu: GAGACTTACAAGGTA GACT|taca
distance from splice site 3
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      24DQENEPEAETYQDNASALNGVPVV
mutated  all conserved    24DQENEPEAETYKDNASALNGVPV
Ptroglodytes  all conserved  ENSPTRG00000013638  24DQENEPEAETYKDNASALNGVPV
Mmulatta  all conserved  ENSMMUG00000020082  24DQENEPEAEIYKDNASAQNGVPV
Fcatus  not conserved  ENSFCAG00000002451  24DQENESEIDTNKAASESRCAQNGVPV
Mmusculus  not conserved  ENSMUSG00000013523  24DQEHDPGADTCKVTSDNECVQNGNPV
Ggallus  not conserved  ENSGALG00000007796  82DPAS--------DSSVGLVKLDV
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
361361CONFLICTG -> D (in Ref. 5; CAH18437).might get lost (downstream of altered splice site)
552552MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1845 / 1845
position (AA) of stopcodon in wt / mu AA sequence 615 / 615
position of stopcodon in wt / mu cDNA 2183 / 2183
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 339 / 339
chromosome 20
strand -1
last intron/exon boundary 2117
theoretical NMD boundary in CDS 1728
length of CDS 1845
coding sequence (CDS) position 70
cDNA position
(for ins/del: last normal base / first normal base)		 408
gDNA position
(for ins/del: last normal base / first normal base)		 12117
chromosomal position
(for ins/del: last normal base / first normal base)		 52675188
original gDNA sequence snippet AACCAGAAGCAGAGACTTACCAGGTAGTGTAGTAACCATTA
altered gDNA sequence snippet AACCAGAAGCAGAGACTTACAAGGTAGTGTAGTAACCATTA
original cDNA sequence snippet AACCAGAAGCAGAGACTTACCAGGACAACGCGTCTGCTCTG
altered cDNA sequence snippet AACCAGAAGCAGAGACTTACAAGGACAACGCGTCTGCTCTG
wildtype AA sequence MGNQMSVPQR VEDQENEPEA ETYQDNASAL NGVPVVVSTH TVQHLEEVDL GISVKTDNVA
TSSPETTEIS AVADANGKNL GKEAKPEAPA AKSRFFLMLS RPVPGRTGDQ AADSSLGSVK
LDVSSNKAPA NKDPSESWTL PVAAGPGQDT DKTPGHAPAQ DKVLSAARDP TLLPPETGGA
GGEAPSKPKD SSFFDKFFKL DKGQEKVPGD SQQEAKRAEH QDKVDEVPGL SGQSDDVPAG
KDIVDGKEKE GQELGTADCS VPGDPEGLET AKDDSQAAAI AENNNSIMSF FKTLVSPNKA
ETKKDPEDTA SKAESVCDGQ AGQKTSEIQA RGTKKKHLDS PRLGLAFRKF FRHKGAEKSP
TTSADLKSDK ANFTSQETQG AGKNSKGCNP SGHTQSVTTP EPAKEGTKEK SGPTSLPLGK
LFWKKVVCES PVEIIKSKEV ESALQTVDLN EGDAAPEPTE AKLKREESKP RTSLMAFLRQ
MTSDSTEKTI TPPEPEPTGA PQKGKEGSSK DKKSAAEMNK QKSNKQEAKE PAQCTEQATV
DTNSLQNGDK LQKRPEKRQQ SLGGFFKGLG PKRMLDAQVQ TDPVSIGPVG KSKYTGKCVF
SHVKKKWPFQ EWSY*
mutated AA sequence MGNQMSVPQR VEDQENEPEA ETYKDNASAL NGVPVVVSTH TVQHLEEVDL GISVKTDNVA
TSSPETTEIS AVADANGKNL GKEAKPEAPA AKSRFFLMLS RPVPGRTGDQ AADSSLGSVK
LDVSSNKAPA NKDPSESWTL PVAAGPGQDT DKTPGHAPAQ DKVLSAARDP TLLPPETGGA
GGEAPSKPKD SSFFDKFFKL DKGQEKVPGD SQQEAKRAEH QDKVDEVPGL SGQSDDVPAG
KDIVDGKEKE GQELGTADCS VPGDPEGLET AKDDSQAAAI AENNNSIMSF FKTLVSPNKA
ETKKDPEDTA SKAESVCDGQ AGQKTSEIQA RGTKKKHLDS PRLGLAFRKF FRHKGAEKSP
TTSADLKSDK ANFTSQETQG AGKNSKGCNP SGHTQSVTTP EPAKEGTKEK SGPTSLPLGK
LFWKKVVCES PVEIIKSKEV ESALQTVDLN EGDAAPEPTE AKLKREESKP RTSLMAFLRQ
MTSDSTEKTI TPPEPEPTGA PQKGKEGSSK DKKSAAEMNK QKSNKQEAKE PAQCTEQATV
DTNSLQNGDK LQKRPEKRQQ SLGGFFKGLG PKRMLDAQVQ TDPVSIGPVG KSKYTGKCVF
SHVKKKWPFQ EWSY*
speed 0.95 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