Yum, tasty mutations...

MutationTaster - study a chromosomal position

MTQE documentation
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input seems to be ok - now mapping the variant to the different transcripts...
found 1 transcript(s)...
Querying Taster for transcript #1: ENST00000366955
MT speed 0 s - this script 5.826152 s

Results


genesymbolpredictionprobabilitymodelprediction
problem
splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
CENPFpolymorphism_automatic1.059167469597e-05simple_aaeaffectedH494Qsingle base exchangers2070065show file

Taster files

Yum, tasty mutations...

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999989408325304 (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) chr1:214811244C>GN/A show variant in all transcripts   IGV
HGNC symbol CENPF
Ensembl transcript ID ENST00000366955
Genbank transcript ID NM_016343
UniProt peptide P49454
alteration type single base exchange
alteration region CDS
DNA changes c.1482C>G
cDNA.1650C>G
g.34707C>G
AA changes H494Q Score: 24 explain score(s)
position(s) of altered AA
if AA alteration in CDS
494
frameshift no
known variant Reference ID: rs2070065
databasehomozygous (G/G)heterozygousallele carriers
1000G3548041158
ExAC33641463117995
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
Gene Associated, Regulatory Feature, Gene associated regulatory feature
CTCF, Transcription Factor, CCCTC-binding factor
DNase1, Open Chromatin, DNase1 Hypersensitive Site
Rad21, Transcription Factor, Rad21 Transcription Factor Binding
phyloP / phastCons
PhyloPPhastCons
(flanking)4.391
1.020.996
(flanking)0.6890.988
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased34707wt: 0.36 / mu: 0.53wt: AGTCACTCTGAGCAA
mu: AGTCAGTCTGAGCAA
 TCAC|tctg
Donor marginally increased34712wt: 0.9889 / mu: 0.9920 (marginal change - not scored)wt: CTCTGAGCAAAAGGC
mu: GTCTGAGCAAAAGGC
 CTGA|gcaa
distance from splice site 36
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      494EMKKENNLLKSHSEQKAREVCHLE
mutated  not conserved    494EMKKENNLLKSQSEQKAREVCHL
Ptroglodytes  not conserved  ENSPTRG00000001977  494EMKKENNLLKSQSEQKAREVCHL
Mmulatta  not conserved  ENSMMUG00000015634  491EMKKENNLLKSQSEQKAREVCHL
Fcatus  not conserved  ENSFCAG00000000860  494EAKKENSLLKSQSEQRAREACHL
Mmusculus  not conserved  ENSMUSG00000026605  487EMKKENSLIRSQSEQRTREVCHL
Ggallus  no alignment  ENSGALG00000009690  n/a
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000055133  482EMQREKNTLNCQLDQGMKRVKQL
Dmelanogaster  no homologue    
Celegans  not conserved  C18C4.5  96ELQKAKNEIQDSIKDGDSEKDAM
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
273769COILEDPotential.lost
611611CONFLICTMissing (in Ref. 2; AAA82935).might get lost (downstream of altered splice site)
769769MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
821821MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
8231328COILEDPotential.might get lost (downstream of altered splice site)
834834MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
12481248MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
12551255MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
12821282MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
13151315MOD_RESPhosphotyrosine.might get lost (downstream of altered splice site)
13191319MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
13241324MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
14351530REPEAT1-1.might get lost (downstream of altered splice site)
14351626REGION2 X 96 AA approximate tandem repeats.might get lost (downstream of altered splice site)
15311626REPEAT1-2.might get lost (downstream of altered splice site)
15901590MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
16421746COILEDPotential.might get lost (downstream of altered splice site)
17471747MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
17481748MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
17501750MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
18111811CONFLICTV -> L (in Ref. 2; AAA82935).might get lost (downstream of altered splice site)
18622987COILEDPotential.might get lost (downstream of altered splice site)
19881988MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
21222447REGIONInteraction with NDE1 and NDEL1.might get lost (downstream of altered splice site)
22072386REPEAT2-1.might get lost (downstream of altered splice site)
22072568REGION2 X 177 AA tandem repeats.might get lost (downstream of altered splice site)
22422243CONFLICTER -> DG (in Ref. 4; AAA86889).might get lost (downstream of altered splice site)
23352335CONFLICTL -> Q (in Ref. 4; AAA86889).might get lost (downstream of altered splice site)
23892568REPEAT2-2.might get lost (downstream of altered splice site)
24882925REGIONSufficient for self-association.might get lost (downstream of altered splice site)
24883113REGIONSufficient for centromere localization.might get lost (downstream of altered splice site)
24922492CONFLICTN -> D (in Ref. 1; AAA82889 and 4; AAA86889).might get lost (downstream of altered splice site)
25122512MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
25132513MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
25452561CONFLICTELNERVAALHNDQEACK -> SSMREWQPCIMTKKPVS (in Ref. 4; AAA86889).might get lost (downstream of altered splice site)
26382638MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
28752875MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
29273113REGIONSufficient for nuclear localization.might get lost (downstream of altered splice site)
29962996MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
30073007MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
30153032MOTIFNuclear localization signal (Potential).might get lost (downstream of altered splice site)
30393039CONFLICTR -> G (in Ref. 1; AAA82889, 2; AAA82935 and 4; AAA86889).might get lost (downstream of altered splice site)
30943094MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
31193119MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
31223122MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
31503150MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
31753175MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
31793179MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
32073207MOD_RESCysteine methyl ester (Probable).might get lost (downstream of altered splice site)
32073207LIPIDS-farnesyl cysteine.might get lost (downstream of altered splice site)
32083210PROPEPRemoved in mature form (Probable). /FTId=PRO_0000396744.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 9345 / 9345
position (AA) of stopcodon in wt / mu AA sequence 3115 / 3115
position of stopcodon in wt / mu cDNA 9513 / 9513
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 169 / 169
chromosome 1
strand 1
last intron/exon boundary 9310
theoretical NMD boundary in CDS 9091
length of CDS 9345
coding sequence (CDS) position 1482
cDNA position
(for ins/del: last normal base / first normal base)
1650
gDNA position
(for ins/del: last normal base / first normal base)
34707
chromosomal position
(for ins/del: last normal base / first normal base)
214811244
original gDNA sequence snippet AACAACCTCCTTAAGAGTCACTCTGAGCAAAAGGCCAGAGA
altered gDNA sequence snippet AACAACCTCCTTAAGAGTCAGTCTGAGCAAAAGGCCAGAGA
original cDNA sequence snippet AACAACCTCCTTAAGAGTCACTCTGAGCAAAAGGCCAGAGA
altered cDNA sequence snippet AACAACCTCCTTAAGAGTCAGTCTGAGCAAAAGGCCAGAGA
wildtype AA sequence MSWALEEWKE GLPTRALQKI QELEGQLDKL KKEKQQRQFQ LDSLEAALQK QKQKVENEKT
EGTNLKRENQ RLMEICESLE KTKQKISHEL QVKESQVNFQ EGQLNSGKKQ IEKLEQELKR
CKSELERSQQ AAQSADVSLN PCNTPQKIFT TPLTPSQYYS GSKYEDLKEK YNKEVEERKR
LEAEVKALQA KKASQTLPQA TMNHRDIARH QASSSVFSWQ QEKTPSHLSS NSQRTPIRRD
FSASYFSGEQ EVTPSRSTLQ IGKRDANSSF FDNSSSPHLL DQLKAQNQEL RNKINELELR
LQGHEKEMKG QVNKFQELQL QLEKAKVELI EKEKVLNKCR DELVRTTAQY DQASTKYTAL
EQKLKKLTED LSCQRQNAES ARCSLEQKIK EKEKEFQEEL SRQQRSFQTL DQECIQMKAR
LTQELQQAKN MHNVLQAELD KLTSVKQQLE NNLEEFKQKL CRAEQAFQAS QIKENELRRS
MEEMKKENNL LKSHSEQKAR EVCHLEAELK NIKQCLNQSQ NFAEEMKAKN TSQETMLRDL
QEKINQQENS LTLEKLKLAV ADLEKQRDCS QDLLKKREHH IEQLNDKLSK TEKESKALLS
ALELKKKEYE ELKEEKTLFS CWKSENEKLL TQMESEKENL QSKINHLETC LKTQQIKSHE
YNERVRTLEM DRENLSVEIR NLHNVLDSKS VEVETQKLAY MELQQKAEFS DQKHQKEIEN
MCLKTSQLTG QVEDLEHKLQ LLSNEIMDKD RCYQDLHAEY ESLRDLLKSK DASLVTNEDH
QRSLLAFDQQ PAMHHSFANI IGEQGSMPSE RSECRLEADQ SPKNSAILQN RVDSLEFSLE
SQKQMNSDLQ KQCEELVQIK GEIEENLMKA EQMHQSFVAE TSQRISKLQE DTSAHQNVVA
ETLSALENKE KELQLLNDKV ETEQAEIQEL KKSNHLLEDS LKELQLLSET LSLEKKEMSS
IISLNKREIE ELTQENGTLK EINASLNQEK MNLIQKSESF ANYIDEREKS ISELSDQYKQ
EKLILLQRCE ETGNAYEDLS QKYKAAQEKN SKLECLLNEC TSLCENRKNE LEQLKEAFAK
EHQEFLTKLA FAEERNQNLM LELETVQQAL RSEMTDNQNN SKSEAGGLKQ EIMTLKEEQN
KMQKEVNDLL QENEQLMKVM KTKHECQNLE SEPIRNSVKE RESERNQCNF KPQMDLEVKE
ISLDSYNAQL VQLEAMLRNK ELKLQESEKE KECLQHELQT IRGDLETSNL QDMQSQEISG
LKDCEIDAEE KYISGPHELS TSQNDNAHLQ CSLQTTMNKL NELEKICEIL QAEKYELVTE
LNDSRSECIT ATRKMAEEVG KLLNEVKILN DDSGLLHGEL VEDIPGGEFG EQPNEQHPVS
LAPLDESNSY EHLTLSDKEV QMHFAELQEK FLSLQSEHKI LHDQHCQMSS KMSELQTYVD
SLKAENLVLS TNLRNFQGDL VKEMQLGLEE GLVPSLSSSC VPDSSSLSSL GDSSFYRALL
EQTGDMSLLS NLEGAVSANQ CSVDEVFCSS LQEENLTRKE TPSAPAKGVE ELESLCEVYR
QSLEKLEEKM ESQGIMKNKE IQELEQLLSS ERQELDCLRK QYLSENEQWQ QKLTSVTLEM
ESKLAAEKKQ TEQLSLELEV ARLQLQGLDL SSRSLLGIDT EDAIQGRNES CDISKEHTSE
TTERTPKHDV HQICDKDAQQ DLNLDIEKIT ETGAVKPTGE CSGEQSPDTN YEPPGEDKTQ
GSSECISELS FSGPNALVPM DFLGNQEDIH NLQLRVKETS NENLRLLHVI EDRDRKVESL
LNEMKELDSK LHLQEVQLMT KIEACIELEK IVGELKKENS DLSEKLEYFS CDHQELLQRV
ETSEGLNSDL EMHADKSSRE DIGDNVAKVN DSWKERFLDV ENELSRIRSE KASIEHEALY
LEADLEVVQT EKLCLEKDNE NKQKVIVCLE EELSVVTSER NQLRGELDTM SKKTTALDQL
SEKMKEKTQE LESHQSECLH CIQVAEAEVK EKTELLQTLS SDVSELLKDK THLQEKLQSL
EKDSQALSLT KCELENQIAQ LNKEKELLVK ESESLQARLS ESDYEKLNVS KALEAALVEK
GEFALRLSST QEEVHQLRRG IEKLRVRIEA DEKKQLHIAE KLKEREREND SLKDKVENLE
RELQMSEENQ ELVILDAENS KAEVETLKTQ IEEMARSLKV FELDLVTLRS EKENLTKQIQ
EKQGQLSELD KLLSSFKSLL EEKEQAEIQI KEESKTAVEM LQNQLKELNE AVAALCGDQE
IMKATEQSLD PPIEEEHQLR NSIEKLRARL EADEKKQLCV LQQLKESEHH ADLLKGRVEN
LERELEIART NQEHAALEAE NSKGEVETLK AKIEGMTQSL RGLELDVVTI RSEKENLTNE
LQKEQERISE LEIINSSFEN ILQEKEQEKV QMKEKSSTAM EMLQTQLKEL NERVAALHND
QEACKAKEQN LSSQVECLEL EKAQLLQGLD EAKNNYIVLQ SSVNGLIQEV EDGKQKLEKK
DEEISRLKNQ IQDQEQLVSK LSQVEGEHQL WKEQNLELRN LTVELEQKIQ VLQSKNASLQ
DTLEVLQSSY KNLENELELT KMDKMSFVEK VNKMTAKETE LQREMHEMAQ KTAELQEELS
GEKNRLAGEL QLLLEEIKSS KDQLKELTLE NSELKKSLDC MHKDQVEKEG KVREEIAEYQ
LRLHEAEKKH QALLLDTNKQ YEVEIQTYRE KLTSKEECLS SQKLEIDLLK SSKEELNNSL
KATTQILEEL KKTKMDNLKY VNQLKKENER AQGKMKLLIK SCKQLEEEKE ILQKELSQLQ
AAQEKQKTGT VMDTKVDELT TEIKELKETL EEKTKEADEY LDKYCSLLIS HEKLEKAKEM
LETQVAHLCS QQSKQDSRGS PLLGPVVPGP SPIPSVTEKR LSSGQNKASG KRQRSSGIWE
NGRGPTPATP ESFSKKSKKA VMSGIHPAED TEGTEFEPEG LPEVVKKGFA DIPTGKTSPY
ILRRTTMATR TSPRLAAQKL ALSPLSLGKE NLAESSKPTA GGSRSQKVKV AQRSPVDSGT
ILREPTTKSV PVNNLPERSP TDSPREGLRV KRGRLVPSPK AGLESNGSEN CKVQ*
mutated AA sequence MSWALEEWKE GLPTRALQKI QELEGQLDKL KKEKQQRQFQ LDSLEAALQK QKQKVENEKT
EGTNLKRENQ RLMEICESLE KTKQKISHEL QVKESQVNFQ EGQLNSGKKQ IEKLEQELKR
CKSELERSQQ AAQSADVSLN PCNTPQKIFT TPLTPSQYYS GSKYEDLKEK YNKEVEERKR
LEAEVKALQA KKASQTLPQA TMNHRDIARH QASSSVFSWQ QEKTPSHLSS NSQRTPIRRD
FSASYFSGEQ EVTPSRSTLQ IGKRDANSSF FDNSSSPHLL DQLKAQNQEL RNKINELELR
LQGHEKEMKG QVNKFQELQL QLEKAKVELI EKEKVLNKCR DELVRTTAQY DQASTKYTAL
EQKLKKLTED LSCQRQNAES ARCSLEQKIK EKEKEFQEEL SRQQRSFQTL DQECIQMKAR
LTQELQQAKN MHNVLQAELD KLTSVKQQLE NNLEEFKQKL CRAEQAFQAS QIKENELRRS
MEEMKKENNL LKSQSEQKAR EVCHLEAELK NIKQCLNQSQ NFAEEMKAKN TSQETMLRDL
QEKINQQENS LTLEKLKLAV ADLEKQRDCS QDLLKKREHH IEQLNDKLSK TEKESKALLS
ALELKKKEYE ELKEEKTLFS CWKSENEKLL TQMESEKENL QSKINHLETC LKTQQIKSHE
YNERVRTLEM DRENLSVEIR NLHNVLDSKS VEVETQKLAY MELQQKAEFS DQKHQKEIEN
MCLKTSQLTG QVEDLEHKLQ LLSNEIMDKD RCYQDLHAEY ESLRDLLKSK DASLVTNEDH
QRSLLAFDQQ PAMHHSFANI IGEQGSMPSE RSECRLEADQ SPKNSAILQN RVDSLEFSLE
SQKQMNSDLQ KQCEELVQIK GEIEENLMKA EQMHQSFVAE TSQRISKLQE DTSAHQNVVA
ETLSALENKE KELQLLNDKV ETEQAEIQEL KKSNHLLEDS LKELQLLSET LSLEKKEMSS
IISLNKREIE ELTQENGTLK EINASLNQEK MNLIQKSESF ANYIDEREKS ISELSDQYKQ
EKLILLQRCE ETGNAYEDLS QKYKAAQEKN SKLECLLNEC TSLCENRKNE LEQLKEAFAK
EHQEFLTKLA FAEERNQNLM LELETVQQAL RSEMTDNQNN SKSEAGGLKQ EIMTLKEEQN
KMQKEVNDLL QENEQLMKVM KTKHECQNLE SEPIRNSVKE RESERNQCNF KPQMDLEVKE
ISLDSYNAQL VQLEAMLRNK ELKLQESEKE KECLQHELQT IRGDLETSNL QDMQSQEISG
LKDCEIDAEE KYISGPHELS TSQNDNAHLQ CSLQTTMNKL NELEKICEIL QAEKYELVTE
LNDSRSECIT ATRKMAEEVG KLLNEVKILN DDSGLLHGEL VEDIPGGEFG EQPNEQHPVS
LAPLDESNSY EHLTLSDKEV QMHFAELQEK FLSLQSEHKI LHDQHCQMSS KMSELQTYVD
SLKAENLVLS TNLRNFQGDL VKEMQLGLEE GLVPSLSSSC VPDSSSLSSL GDSSFYRALL
EQTGDMSLLS NLEGAVSANQ CSVDEVFCSS LQEENLTRKE TPSAPAKGVE ELESLCEVYR
QSLEKLEEKM ESQGIMKNKE IQELEQLLSS ERQELDCLRK QYLSENEQWQ QKLTSVTLEM
ESKLAAEKKQ TEQLSLELEV ARLQLQGLDL SSRSLLGIDT EDAIQGRNES CDISKEHTSE
TTERTPKHDV HQICDKDAQQ DLNLDIEKIT ETGAVKPTGE CSGEQSPDTN YEPPGEDKTQ
GSSECISELS FSGPNALVPM DFLGNQEDIH NLQLRVKETS NENLRLLHVI EDRDRKVESL
LNEMKELDSK LHLQEVQLMT KIEACIELEK IVGELKKENS DLSEKLEYFS CDHQELLQRV
ETSEGLNSDL EMHADKSSRE DIGDNVAKVN DSWKERFLDV ENELSRIRSE KASIEHEALY
LEADLEVVQT EKLCLEKDNE NKQKVIVCLE EELSVVTSER NQLRGELDTM SKKTTALDQL
SEKMKEKTQE LESHQSECLH CIQVAEAEVK EKTELLQTLS SDVSELLKDK THLQEKLQSL
EKDSQALSLT KCELENQIAQ LNKEKELLVK ESESLQARLS ESDYEKLNVS KALEAALVEK
GEFALRLSST QEEVHQLRRG IEKLRVRIEA DEKKQLHIAE KLKEREREND SLKDKVENLE
RELQMSEENQ ELVILDAENS KAEVETLKTQ IEEMARSLKV FELDLVTLRS EKENLTKQIQ
EKQGQLSELD KLLSSFKSLL EEKEQAEIQI KEESKTAVEM LQNQLKELNE AVAALCGDQE
IMKATEQSLD PPIEEEHQLR NSIEKLRARL EADEKKQLCV LQQLKESEHH ADLLKGRVEN
LERELEIART NQEHAALEAE NSKGEVETLK AKIEGMTQSL RGLELDVVTI RSEKENLTNE
LQKEQERISE LEIINSSFEN ILQEKEQEKV QMKEKSSTAM EMLQTQLKEL NERVAALHND
QEACKAKEQN LSSQVECLEL EKAQLLQGLD EAKNNYIVLQ SSVNGLIQEV EDGKQKLEKK
DEEISRLKNQ IQDQEQLVSK LSQVEGEHQL WKEQNLELRN LTVELEQKIQ VLQSKNASLQ
DTLEVLQSSY KNLENELELT KMDKMSFVEK VNKMTAKETE LQREMHEMAQ KTAELQEELS
GEKNRLAGEL QLLLEEIKSS KDQLKELTLE NSELKKSLDC MHKDQVEKEG KVREEIAEYQ
LRLHEAEKKH QALLLDTNKQ YEVEIQTYRE KLTSKEECLS SQKLEIDLLK SSKEELNNSL
KATTQILEEL KKTKMDNLKY VNQLKKENER AQGKMKLLIK SCKQLEEEKE ILQKELSQLQ
AAQEKQKTGT VMDTKVDELT TEIKELKETL EEKTKEADEY LDKYCSLLIS HEKLEKAKEM
LETQVAHLCS QQSKQDSRGS PLLGPVVPGP SPIPSVTEKR LSSGQNKASG KRQRSSGIWE
NGRGPTPATP ESFSKKSKKA VMSGIHPAED TEGTEFEPEG LPEVVKKGFA DIPTGKTSPY
ILRRTTMATR TSPRLAAQKL ALSPLSLGKE NLAESSKPTA GGSRSQKVKV AQRSPVDSGT
ILREPTTKSV PVNNLPERSP TDSPREGLRV KRGRLVPSPK AGLESNGSEN CKVQ*
speed 1.69 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