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 1 transcript(s)...
Querying Taster for transcript #1: ENST00000408964
MT speed 0 s - this script 2.866065 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
C2orf16polymorphism_automatic1.99840144432528e-15simple_aaeaffectedS1665Psingle base exchangers28381983show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999998 (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) chr2:27804432T>CN/A show variant in all transcripts   IGV
HGNC symbol C2orf16
Ensembl transcript ID ENST00000408964
Genbank transcript ID NM_032266
UniProt peptide Q68DN1
alteration type single base exchange
alteration region CDS
DNA changes c.4993T>C
cDNA.5044T>C
g.5044T>C
AA changes S1665P Score: 74 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1665
frameshift no
known variant Reference ID: rs28381983
databasehomozygous (C/C)heterozygousallele carriers
1000G12689422210
ExAC20756-874512011
regulatory features H2BK20ac, Histone, Histone 2B Lysine 20 Acetylation
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.2580
-0.7880
(flanking)1.20.001
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased5046wt: 0.36 / mu: 0.53wt: AGTTCCTCTGAGAGA
mu: AGTCCCTCTGAGAGA		 TTCC|tctg
Donor increased5036wt: 0.69 / mu: 0.89wt: AAGCCATCGCAGTTC
mu: AAGCCATCGCAGTCC		 GCCA|tcgc
distance from splice site 1157
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1665HRSPSERSHRSSSERRHRSPSQRS
mutated  not conserved    1665HRSPSERSHRSPSERRHRSPSQR
Ptroglodytes  not conserved  ENSPTRG00000042376  1657HRSPSERSHRSPSQRSHRGPSEG
Mmulatta  not conserved  ENSMMUG00000030890  1665HRSPSQRNHRGPSQRRYHSPSER
Fcatus  not conserved  ENSFCAG00000004722  1620HRSPSQRSHRSPSERSHRSP
Mmusculus  no homologue    
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 
15461934COMPBIASArg-rich.lost
15931935REGION27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.lost
16571664REPEAT6.might get lost (downstream of altered splice site)
16811688REPEAT7.might get lost (downstream of altered splice site)
16891696REPEAT8.might get lost (downstream of altered splice site)
16971704REPEAT9.might get lost (downstream of altered splice site)
17051712REPEAT10.might get lost (downstream of altered splice site)
17131720REPEAT11.might get lost (downstream of altered splice site)
17211728REPEAT12.might get lost (downstream of altered splice site)
17291736REPEAT13.might get lost (downstream of altered splice site)
17371744REPEAT14.might get lost (downstream of altered splice site)
17451752REPEAT15.might get lost (downstream of altered splice site)
17531760REPEAT16.might get lost (downstream of altered splice site)
17611768REPEAT17.might get lost (downstream of altered splice site)
17691776REPEAT18.might get lost (downstream of altered splice site)
17771784REPEAT19.might get lost (downstream of altered splice site)
17851792REPEAT20.might get lost (downstream of altered splice site)
17931800REPEAT21.might get lost (downstream of altered splice site)
18011808REPEAT22.might get lost (downstream of altered splice site)
18481855REPEAT23.might get lost (downstream of altered splice site)
18641871REPEAT24.might get lost (downstream of altered splice site)
18801887REPEAT25.might get lost (downstream of altered splice site)
19211928REPEAT26.might get lost (downstream of altered splice site)
19291935REPEAT27.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 5955 / 5955
position (AA) of stopcodon in wt / mu AA sequence 1985 / 1985
position of stopcodon in wt / mu cDNA 6006 / 6006
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 52 / 52
chromosome 2
strand 1
last intron/exon boundary 1
theoretical NMD boundary in CDS cannot be calculated, too little distance between start ATG and last intron/exon boundary
length of CDS 5955
coding sequence (CDS) position 4993
cDNA position
(for ins/del: last normal base / first normal base)		 5044
gDNA position
(for ins/del: last normal base / first normal base)		 5044
chromosomal position
(for ins/del: last normal base / first normal base)		 27804432
original gDNA sequence snippet CAGAGAGAAGCCATCGCAGTTCCTCTGAGAGAAGACATCGC
altered gDNA sequence snippet CAGAGAGAAGCCATCGCAGTCCCTCTGAGAGAAGACATCGC
original cDNA sequence snippet CAGAGAGAAGCCATCGCAGTTCCTCTGAGAGAAGACATCGC
altered cDNA sequence snippet CAGAGAGAAGCCATCGCAGTCCCTCTGAGAGAAGACATCGC
wildtype AA sequence MELTPGAQQQ GINYQELTSG WQDVKSMMLV PEPTRKFPSG PLLTSVRFSN LSPESQQQDV
KSLEFTVEPK LQSVKHVKLS SVSLQQTIKS VELAPGSLPQ RVKYGEQTPR TNYQIMESSE
LIPRPGHQFA KYAEMIPQPK YQIPKSANLI SIPIYHATES SEMAQGLAYK GIDTVEKSVG
LTPKLTGRAK ESLGMLLQPD LQVPKFVDLT PMVRDQGSKF LGLTPEKSYQ ILETMELLSQ
SRPRVKDVGE LYMKPLQQTV EYEGITPELK HYFTEAMGLT AEARIQANEF FGMTPKPTSQ
ATGFAERSPR LCPQNLECVE VISEKRLQGE ESVVLIPKSL HHVPDSASGM TPGLGHRVPE
SVELTSKSGV QVEKTLQLTP KPQHHVGSPG IISGLGHQVP ESVNLTCKQW LQMEESLEVP
LKQTSQVIGH EESVELTSEA RQHREVSMGL TKSKNQSMKS PGTTPGPLGR IVEFMRISPE
PLDQVTESAR TQLQVAQSEE VILIDVPKVV QSVKVTPGPP FQIVKSVTIP RPTPQMVEYI
ELTPKLQYVR PSEHHTGPCL QDVKSTKLIT KPKHQILETV ELTGFQIVKT MLIPGPSLQI
VKSEELAPGP IPQVVEPIGV ALESGIEAIN CVDLLPRPHL QELIVPAELT PSPCTQVKSA
ELTSPQTSPF EEHTILTHKQ GLQAVKSTVI KTEPPKVMET EDLNLGHVCQ NRDCQKLTSE
ELQVGTDFSR FLQSSSTTLI SSSVRTASEL GGLWDSGIQE VSRALDIKNP GTDILQPEET
YIDPTMIQSL TFPLALHNQS SDKTANIVEN PCPEILGVDV ISKETTKRKQ MEELENSLQR
HLPQSWRSRS RTFQAESGVQ KGLIKSFPGR QHNVWESHAW RQRLPRKYLS TMLMLGNILG
TTMERKLCSQ TSLAERATAD TCQSIQNLFG IPAELMEPSQ SLPEKGPVTI SQPSVVKNYI
QRHTFYHGHK KRMALRIWTR GSTSSIIQQY SGTRVRIKKT NSTFNGISQE VIQHMPVSCA
GGQLPVLVKS ESSLSIFYDR EDLVPMEESE DSQSDSQTRI SESQHSLKPN YLSQAKTDFS
EQFQLLEDLQ LKIAAKLLRS QIPPDVPPPL ASGLVLKYPI CLQCGRCSGL NCHHKLQTTS
GPYLLIYPQL HLVRTPEGHG EVRLHLGFRL RIGKRSQISK YRERDRPVIR RSPISPSQRK
AKIYTQASKS PTSTIDLQSG PSQSPAPVQV YIRRGQRSRP DLVEKTKTRA PGHYEFTQVH
NLPESDSEST QNEKRAKVRT KKTSDSKYPM KRITKRLRKH RKFYTNSRTT IESPSRELAA
HLRRKRIGAT QTSTASLKRQ PKKPSQPKFM QLLFQSLKRA FQTAHRVIAS VGRKPVDGTR
PDNLWASKNY YPKQNARDYC LPSSIKRDKR SADKLTPAGS TIKQEDILWG GTVQCRSAQQ
PRRAYSFQPR PLRLPKPTDS QSGIAFQTAS VGQPLRTVQK DSSSRSKKNF YRNETSSQES
KNLSTPGTRV QARGRILPGS PVKRTWHRHL KDKLTHKEHN HPSFYRERTP RGPSERTRHN
PSWRNHRSPS ERSQRSSLER RHHSPSQRSH CSPSRKNHSS PSERSWRSPS QRNHCSPPER
SCHSLSERGL HSPSQRSHRG PSQRRHHSPS ERSHRSPSER SHRSSSERRH RSPSQRSHRG
PSERSHCSPS ERRHRSPSQR SHRGPSERRH HSPSKRSHRS PARRSHRSPS ERSHHSPSER
SHHSPSERRH HSPSERSHCS PSERSHCSPS ERRHRSPSER RHHSPSEKSH HSPSERSHHS
PSERRRHSPL ERSRHSLLER SHRSPSERRS HRSFERSHRR ISERSHSPSE KSHLSPLERS
RCSPSERRGH SSSGKTCHSP SERSHRSPSG MRQGRTSERS HRSSCERTRH SPSEMRPGRP
SGRNHCSPSE RSRRSPLKEG LKYSFPGERP SHSLSRDFKN QTTLLGTTHK NPKAGQVWRP
EATR*
mutated AA sequence MELTPGAQQQ GINYQELTSG WQDVKSMMLV PEPTRKFPSG PLLTSVRFSN LSPESQQQDV
KSLEFTVEPK LQSVKHVKLS SVSLQQTIKS VELAPGSLPQ RVKYGEQTPR TNYQIMESSE
LIPRPGHQFA KYAEMIPQPK YQIPKSANLI SIPIYHATES SEMAQGLAYK GIDTVEKSVG
LTPKLTGRAK ESLGMLLQPD LQVPKFVDLT PMVRDQGSKF LGLTPEKSYQ ILETMELLSQ
SRPRVKDVGE LYMKPLQQTV EYEGITPELK HYFTEAMGLT AEARIQANEF FGMTPKPTSQ
ATGFAERSPR LCPQNLECVE VISEKRLQGE ESVVLIPKSL HHVPDSASGM TPGLGHRVPE
SVELTSKSGV QVEKTLQLTP KPQHHVGSPG IISGLGHQVP ESVNLTCKQW LQMEESLEVP
LKQTSQVIGH EESVELTSEA RQHREVSMGL TKSKNQSMKS PGTTPGPLGR IVEFMRISPE
PLDQVTESAR TQLQVAQSEE VILIDVPKVV QSVKVTPGPP FQIVKSVTIP RPTPQMVEYI
ELTPKLQYVR PSEHHTGPCL QDVKSTKLIT KPKHQILETV ELTGFQIVKT MLIPGPSLQI
VKSEELAPGP IPQVVEPIGV ALESGIEAIN CVDLLPRPHL QELIVPAELT PSPCTQVKSA
ELTSPQTSPF EEHTILTHKQ GLQAVKSTVI KTEPPKVMET EDLNLGHVCQ NRDCQKLTSE
ELQVGTDFSR FLQSSSTTLI SSSVRTASEL GGLWDSGIQE VSRALDIKNP GTDILQPEET
YIDPTMIQSL TFPLALHNQS SDKTANIVEN PCPEILGVDV ISKETTKRKQ MEELENSLQR
HLPQSWRSRS RTFQAESGVQ KGLIKSFPGR QHNVWESHAW RQRLPRKYLS TMLMLGNILG
TTMERKLCSQ TSLAERATAD TCQSIQNLFG IPAELMEPSQ SLPEKGPVTI SQPSVVKNYI
QRHTFYHGHK KRMALRIWTR GSTSSIIQQY SGTRVRIKKT NSTFNGISQE VIQHMPVSCA
GGQLPVLVKS ESSLSIFYDR EDLVPMEESE DSQSDSQTRI SESQHSLKPN YLSQAKTDFS
EQFQLLEDLQ LKIAAKLLRS QIPPDVPPPL ASGLVLKYPI CLQCGRCSGL NCHHKLQTTS
GPYLLIYPQL HLVRTPEGHG EVRLHLGFRL RIGKRSQISK YRERDRPVIR RSPISPSQRK
AKIYTQASKS PTSTIDLQSG PSQSPAPVQV YIRRGQRSRP DLVEKTKTRA PGHYEFTQVH
NLPESDSEST QNEKRAKVRT KKTSDSKYPM KRITKRLRKH RKFYTNSRTT IESPSRELAA
HLRRKRIGAT QTSTASLKRQ PKKPSQPKFM QLLFQSLKRA FQTAHRVIAS VGRKPVDGTR
PDNLWASKNY YPKQNARDYC LPSSIKRDKR SADKLTPAGS TIKQEDILWG GTVQCRSAQQ
PRRAYSFQPR PLRLPKPTDS QSGIAFQTAS VGQPLRTVQK DSSSRSKKNF YRNETSSQES
KNLSTPGTRV QARGRILPGS PVKRTWHRHL KDKLTHKEHN HPSFYRERTP RGPSERTRHN
PSWRNHRSPS ERSQRSSLER RHHSPSQRSH CSPSRKNHSS PSERSWRSPS QRNHCSPPER
SCHSLSERGL HSPSQRSHRG PSQRRHHSPS ERSHRSPSER SHRSPSERRH RSPSQRSHRG
PSERSHCSPS ERRHRSPSQR SHRGPSERRH HSPSKRSHRS PARRSHRSPS ERSHHSPSER
SHHSPSERRH HSPSERSHCS PSERSHCSPS ERRHRSPSER RHHSPSEKSH HSPSERSHHS
PSERRRHSPL ERSRHSLLER SHRSPSERRS HRSFERSHRR ISERSHSPSE KSHLSPLERS
RCSPSERRGH SSSGKTCHSP SERSHRSPSG MRQGRTSERS HRSSCERTRH SPSEMRPGRP
SGRNHCSPSE RSRRSPLKEG LKYSFPGERP SHSLSRDFKN QTTLLGTTHK NPKAGQVWRP
EATR*
speed 0.81 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

Problems