Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999995 (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) chr10:123970530T>CN/A show variant in all transcripts   IGV
HGNC symbol TACC2
Ensembl transcript ID ENST00000453444
Genbank transcript ID N/A
UniProt peptide O95359
alteration type single base exchange
alteration region CDS
DNA changes c.6602T>C
cDNA.6648T>C
g.221842T>C
AA changes V2201A Score: 64 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 2201
frameshift no
known variant Reference ID: rs2295873
databasehomozygous (C/C)heterozygousallele carriers
1000G4378801317
ExAC39461642420370
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.1560
0.6360
(flanking)-0.1780
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 increased221844wt: 0.4491 / mu: 0.4842 (marginal change - not scored)wt: CGCCCCTTGAGCCCGCTGTGGGGCCCAAAGCTGCCTGCCCT
mu: CGCCCCTTGAGCCCGCTGCGGGGCCCAAAGCTGCCTGCCCT		 gtgg|GGCC
Donor gained2218370.58mu: GAGCCCGCTGCGGGG GCCC|gctg
distance from splice site 619
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      2201ALLEETPLEPAVGPKAACPLDSES
mutated  not conserved    2201ALLEETPLEPAAGPKAACPLDSE
Ptroglodytes  not conserved  ENSPTRG00000003008  2180ALLEETPLEPAAGPKAACPLDSE
Mmulatta  not conserved  ENSMMUG00000013033  2179ALLEETPLEPAAGPKAACPLDSE
Fcatus  no alignment  ENSFCAG00000003650  n/a
Mmusculus  not conserved  ENSMUSG00000030852  2093TLSDDTPLESPAVPTATCPLTLE
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  all conserved  ENSDARG00000062790  584ASTVPDEESPILPSASYKWDPD
Dmelanogaster  no alignment  FBgn0026620  n/a
Celegans  no homologue    
Xtropicalis  all conserved  ENSXETG00000015587  265P-----KSDPDLEPQEISALQSS
protein features
start (aa)end (aa)featuredetails 
22262226MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
22462246MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
22562256MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
23152403DOMAINSPAZ.might get lost (downstream of altered splice site)
23172317MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
23212321MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
23592359MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
23892389MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
23902390MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
23922392MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
23942394MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
24032403MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
24202423COMPBIASPoly-Lys.might get lost (downstream of altered splice site)
25122512MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
26752703COILEDPotential.might get lost (downstream of altered splice site)
27462947COILEDPotential.might get lost (downstream of altered splice site)
28842884MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
28962896CONFLICTR -> Q (in Ref. 3; AAO62629/AAO62630).might get lost (downstream of altered splice site)
29092909CONFLICTS -> T (in Ref. 5; AAH39311).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 8628 / 8628
position (AA) of stopcodon in wt / mu AA sequence 2876 / 2876
position of stopcodon in wt / mu cDNA 8674 / 8674
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 47 / 47
chromosome 10
strand 1
last intron/exon boundary 8609
theoretical NMD boundary in CDS 8512
length of CDS 8628
coding sequence (CDS) position 6602
cDNA position
(for ins/del: last normal base / first normal base)		 6648
gDNA position
(for ins/del: last normal base / first normal base)		 221842
chromosomal position
(for ins/del: last normal base / first normal base)		 123970530
original gDNA sequence snippet GACGCCCCTTGAGCCCGCTGTGGGGCCCAAAGCTGCCTGCC
altered gDNA sequence snippet GACGCCCCTTGAGCCCGCTGCGGGGCCCAAAGCTGCCTGCC
original cDNA sequence snippet GACGCCCCTTGAGCCCGCTGTGGGGCCCAAAGCTGCCTGCC
altered cDNA sequence snippet GACGCCCCTTGAGCCCGCTGCGGGGCCCAAAGCTGCCTGCC
wildtype AA sequence MGNENSTSDN QRTLSAQTPR SAQPPGNSQN IKRKQQDTPG SPDHRDASSI GSVGLGGFCT
ASESSASLDP CLVSPEVTEP RKDPQGARGP EGSLLPSPPP SQEREHPSSS MPFAECPPEG
CLASPAAAPE DGPQTQSPRR EPAPNAPGDI AAAFPAERDS STPYQEIAAV PSAGRERQPK
EEGQKSSFSF SSGIDQSPGM SPVPLREPMK APLCGEGDQP GGFESQEKEA AGGFPPAESR
QGVASVQVTP EAPAAAQQGT ESSAVLEKSP LKPMAPIPQD PAPRASDRER GQGEAPPQYL
TDDLEFLRAC HLPRSNSGAA PEAEVNAASQ ESCQQPVGAY LPHAELPWGL PSPALVPEAG
GSGKEALDTI DVQGHPQTGM RGTKPNQVVC VAAGGQPEGG LPVSPEPSLL TPTEEAHPAS
SLASFPAAQI PIAVEEPGSS SRESVSKAGM PVSADAAKEV VDAGLVGLER QVSDLGSKGE
HPEGDPGEVP APSPQERGEH LNTEQSHEVQ PGVPPPPLPK EQSHEVQPGA PPPPLPKAPS
ESARGPPGPT DGAKVHEDST SPAVAKEGSR SPGDSPGGKE EAPEPPDGGD PGNLQGEDSQ
AFSSKRDPEV GKDELSKPSS DAESRDHPSS HSAQPPRKGG AGHTDGPHSQ TAEADASGLP
HKLGEEDPVL PPVPDGAGEP TVPEGAIWEG SGLQPKCPDT LQSREGLGRM ESFLTLESEK
SDFPPTPVAE VAPKAQEGES TLEIRKMGSC DGEGLLTSPD QPRGPACDAS RQEFHAGVPH
PPQGENLAAD LGLTALILDQ DQQGIPSCPG EGWIRGAASE WPLLSSEKHL QPSQAQPETS
IFDVLKEQAQ PPENGKETSP SHPGFKDQGA DSSQIHVPVE PQEDNNLPTH GGQEQALGSE
LQSQLPKGTL SDTPTSSPTD MVWESSLTEE SELSAPTRQK LPALGEKRPE GACGDGQSSR
VSPPAADVLK DFSLAGNFSR KETCCTGQGP NKSQQALADA LEEGSQHEEA CQRHPGASEA
ADGCSPLWGL SKREMASGNT GEAPPCQPDS VALLDAVPCL PALAPASPGV TPTQDAPETE
ACDETQEGRQ QPVPAPQQKM ECWATSDAES PKLLASFPSA GEQGGEAGAA ETGGSAGAGD
PGKQQAPEKP GEATLSCGLL QTEHCLTSGE EASTSALRES CQAEHPMASC QDALLPAREL
GGIPRSTMDF STHQAVPDPK ELLLSGPPEV AAPDTPYLHV DSAAQRGAED SGVKAVSSAD
PRAPGESPCP VGEPPLALEN AASLKLFAGS LAPLLQPGAA GGEIPAVQAS SGSPKARTTE
GPVDSMPCLD RMPLLAKGKQ ATGEEKAATA PGAGAKASGE GMAGDAAGET EGSMERMGEP
SQDPKQGTSG GVDTSSEQIA TLTGFPDFRE HIAKIFEKPV LGALATPGEK AGAGRSAVGK
DLTRPLGPEK LLDGPPGVDV TLLPAPPARL QVEKKQQLAG EAEISHLALQ DPASDKLLGP
AGLTWERNLP GAGVGKEMAG VPPTLREDER PEGPGAAWPG LEGQAYSQLE RSRQELASGL
PSPAATQELP VERAAAFQVA PHSHGEEAVA QDRIPSGKQH QETSACDSPH GEDGPGDFAH
TGVPGHVPRS TCAPSPQREV LTVPEANSEP WTLDTLGGER RPGVTAGILE MRNALGNQST
PAPPTGEVAD TPLEPGKVAG AAGEAEGDIT LSTAETQACA SGDLPEAGTT RTFSVVAGDL
VLPGSCQDPA CSDKAPGMEG TAALHGDSPA RPQQAKEQPG PERPIPAGDG KVCVSSPPEP
DETHDPKLQH LAPEELHTDR ESPRPGPSML PSVPKKDAPR VMDKVTSDET RGAEGTERSA
KDIGLWKAMM PSLDTDTLDV LERRVVLIQH EFLHKKEANG HSRFMYSSPV ADDIIQPAAP
ADLESPTLAA SSYHGDVVGQ VSTDLIAQRS SDSEEAFETP ESTTPVKAPP APPPPPPEVI
PEPEVSTQPP PEEPGCGSET VPVPDGPRSD SVEGSPFRPP SHSFSAVFDE DKPIASSGTY
NLDFDNIELV DTFQTLEPRA SDAKNQEGKV NTRRKSTDSV PISKSTLSRS LSLQASDFDG
ASSSGNPEAV ALAPDAYSTG SSSASSTLKR TKKPRPPSLK KKQTTKKPTE TPPVKETQQE
PDEESLVPSG ENLASETKTE SAKTEGPSPA LLEETPLEPA VGPKAACPLD SESAEGVVPP
ASGGGRVQNS PPVGRKTLPL TTAPEAGEVT PSDSGGQEDS PAKGLSVRLE FDYSEDKSSW
DNQQENPPPT KKIGKKPVAK MPLRRPKMKK TPEKLDNTPA SPPRSPAEPN DIPIAKGTYT
FDIDKWDDPN FNPFSSTSKM QESPKLPQQS YNFDPDTCDE SVDPFKTSSK TPSSPSKSPA
SFEIPASAME ANGVDGDGLN KPAKKKKTPL KTDTFRVKKS PKRSPLSDPP SQDPTPAATP
ETPPVISAVV HATDEEKLAV TNQKWTCMTV DLEADKQDYP QPSDLSTFVN ETKFSSPTEE
LDYRNSYEIE YMEKIGSSLP QDDDAPKKQA LYLMFDTSQE SPVKSSPVRM SESPTPCSGS
SFEETEALVN TAAKNQHPVP RGLAPNQESH LQVPEKSSQK ELEAMGLGTP SEAIEIREAA
HPTDVSISKT ALYSRIGTAE VEKPAGLLFQ QPDLDSALQI ARAEIITKER EVSEWKDKYE
ESRREVMEMR KIVAEYEKTI AQMIEDEQRE KSVSHQTVQQ LVLEKEQALA DLNSVEKSLA
DLFRRYEKMK EVLEGFRKNE EVLKRCAQEY LSRVKKEEQR YQALKVHAEE KLDRANAEIA
QVRGKAQQEQ AAHQASLRKE QLRVDALERT LEQKNKEIEE LTKICDELIA KMGKS*
mutated AA sequence MGNENSTSDN QRTLSAQTPR SAQPPGNSQN IKRKQQDTPG SPDHRDASSI GSVGLGGFCT
ASESSASLDP CLVSPEVTEP RKDPQGARGP EGSLLPSPPP SQEREHPSSS MPFAECPPEG
CLASPAAAPE DGPQTQSPRR EPAPNAPGDI AAAFPAERDS STPYQEIAAV PSAGRERQPK
EEGQKSSFSF SSGIDQSPGM SPVPLREPMK APLCGEGDQP GGFESQEKEA AGGFPPAESR
QGVASVQVTP EAPAAAQQGT ESSAVLEKSP LKPMAPIPQD PAPRASDRER GQGEAPPQYL
TDDLEFLRAC HLPRSNSGAA PEAEVNAASQ ESCQQPVGAY LPHAELPWGL PSPALVPEAG
GSGKEALDTI DVQGHPQTGM RGTKPNQVVC VAAGGQPEGG LPVSPEPSLL TPTEEAHPAS
SLASFPAAQI PIAVEEPGSS SRESVSKAGM PVSADAAKEV VDAGLVGLER QVSDLGSKGE
HPEGDPGEVP APSPQERGEH LNTEQSHEVQ PGVPPPPLPK EQSHEVQPGA PPPPLPKAPS
ESARGPPGPT DGAKVHEDST SPAVAKEGSR SPGDSPGGKE EAPEPPDGGD PGNLQGEDSQ
AFSSKRDPEV GKDELSKPSS DAESRDHPSS HSAQPPRKGG AGHTDGPHSQ TAEADASGLP
HKLGEEDPVL PPVPDGAGEP TVPEGAIWEG SGLQPKCPDT LQSREGLGRM ESFLTLESEK
SDFPPTPVAE VAPKAQEGES TLEIRKMGSC DGEGLLTSPD QPRGPACDAS RQEFHAGVPH
PPQGENLAAD LGLTALILDQ DQQGIPSCPG EGWIRGAASE WPLLSSEKHL QPSQAQPETS
IFDVLKEQAQ PPENGKETSP SHPGFKDQGA DSSQIHVPVE PQEDNNLPTH GGQEQALGSE
LQSQLPKGTL SDTPTSSPTD MVWESSLTEE SELSAPTRQK LPALGEKRPE GACGDGQSSR
VSPPAADVLK DFSLAGNFSR KETCCTGQGP NKSQQALADA LEEGSQHEEA CQRHPGASEA
ADGCSPLWGL SKREMASGNT GEAPPCQPDS VALLDAVPCL PALAPASPGV TPTQDAPETE
ACDETQEGRQ QPVPAPQQKM ECWATSDAES PKLLASFPSA GEQGGEAGAA ETGGSAGAGD
PGKQQAPEKP GEATLSCGLL QTEHCLTSGE EASTSALRES CQAEHPMASC QDALLPAREL
GGIPRSTMDF STHQAVPDPK ELLLSGPPEV AAPDTPYLHV DSAAQRGAED SGVKAVSSAD
PRAPGESPCP VGEPPLALEN AASLKLFAGS LAPLLQPGAA GGEIPAVQAS SGSPKARTTE
GPVDSMPCLD RMPLLAKGKQ ATGEEKAATA PGAGAKASGE GMAGDAAGET EGSMERMGEP
SQDPKQGTSG GVDTSSEQIA TLTGFPDFRE HIAKIFEKPV LGALATPGEK AGAGRSAVGK
DLTRPLGPEK LLDGPPGVDV TLLPAPPARL QVEKKQQLAG EAEISHLALQ DPASDKLLGP
AGLTWERNLP GAGVGKEMAG VPPTLREDER PEGPGAAWPG LEGQAYSQLE RSRQELASGL
PSPAATQELP VERAAAFQVA PHSHGEEAVA QDRIPSGKQH QETSACDSPH GEDGPGDFAH
TGVPGHVPRS TCAPSPQREV LTVPEANSEP WTLDTLGGER RPGVTAGILE MRNALGNQST
PAPPTGEVAD TPLEPGKVAG AAGEAEGDIT LSTAETQACA SGDLPEAGTT RTFSVVAGDL
VLPGSCQDPA CSDKAPGMEG TAALHGDSPA RPQQAKEQPG PERPIPAGDG KVCVSSPPEP
DETHDPKLQH LAPEELHTDR ESPRPGPSML PSVPKKDAPR VMDKVTSDET RGAEGTERSA
KDIGLWKAMM PSLDTDTLDV LERRVVLIQH EFLHKKEANG HSRFMYSSPV ADDIIQPAAP
ADLESPTLAA SSYHGDVVGQ VSTDLIAQRS SDSEEAFETP ESTTPVKAPP APPPPPPEVI
PEPEVSTQPP PEEPGCGSET VPVPDGPRSD SVEGSPFRPP SHSFSAVFDE DKPIASSGTY
NLDFDNIELV DTFQTLEPRA SDAKNQEGKV NTRRKSTDSV PISKSTLSRS LSLQASDFDG
ASSSGNPEAV ALAPDAYSTG SSSASSTLKR TKKPRPPSLK KKQTTKKPTE TPPVKETQQE
PDEESLVPSG ENLASETKTE SAKTEGPSPA LLEETPLEPA AGPKAACPLD SESAEGVVPP
ASGGGRVQNS PPVGRKTLPL TTAPEAGEVT PSDSGGQEDS PAKGLSVRLE FDYSEDKSSW
DNQQENPPPT KKIGKKPVAK MPLRRPKMKK TPEKLDNTPA SPPRSPAEPN DIPIAKGTYT
FDIDKWDDPN FNPFSSTSKM QESPKLPQQS YNFDPDTCDE SVDPFKTSSK TPSSPSKSPA
SFEIPASAME ANGVDGDGLN KPAKKKKTPL KTDTFRVKKS PKRSPLSDPP SQDPTPAATP
ETPPVISAVV HATDEEKLAV TNQKWTCMTV DLEADKQDYP QPSDLSTFVN ETKFSSPTEE
LDYRNSYEIE YMEKIGSSLP QDDDAPKKQA LYLMFDTSQE SPVKSSPVRM SESPTPCSGS
SFEETEALVN TAAKNQHPVP RGLAPNQESH LQVPEKSSQK ELEAMGLGTP SEAIEIREAA
HPTDVSISKT ALYSRIGTAE VEKPAGLLFQ QPDLDSALQI ARAEIITKER EVSEWKDKYE
ESRREVMEMR KIVAEYEKTI AQMIEDEQRE KSVSHQTVQQ LVLEKEQALA DLNSVEKSLA
DLFRRYEKMK EVLEGFRKNE EVLKRCAQEY LSRVKKEEQR YQALKVHAEE KLDRANAEIA
QVRGKAQQEQ AAHQASLRKE QLRVDALERT LEQKNKEIEE LTKICDELIA KMGKS*
speed 1.39 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