| Transcript | Gene symbol | Prediction | Tree vote | Model | Prediction problem | Splice site change | Known ClinVar disease mutation | Potential ClinVar disease mutation | Amino acid changes | Variant type | dbSNP ID | Protein length | Features at a glance |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ENST00000366955(MANE Select) | CENPF | Benign | 0|200 | without_ | No | Deletion | N/A |
| |||||
| CENPF | Benign | 0|200 | without_ | No | Deletion | N/A |
|
| Analysed issue | Analysis result | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr1:214651947delT (GRCh38) | |||||||||||||
| Gene symbol | CENPF | |||||||||||||
| Gene constraints | LOEUF: 0.73, LOF (oe): 0.65, misssense (oe): 0.94, synonymous (oe): 0.94 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000366955.8 | |||||||||||||
| Genbank transcript ID | NM_016343 (exact from MANE) | |||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Deletion | |||||||||||||
| Gene region | intron | |||||||||||||
| DNA changes | c.8160+61delT g.48763delT | |||||||||||||
| AA changes | N/A | |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | N/A | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | N/A | |||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | N/A | |||||||||||||
| Kozak consensus sequence altered? | N/A | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | N/A | |||||||||||||
| Chromosome | 1 | |||||||||||||
| Strand | 1 | |||||||||||||
| Original gDNA sequence snippet | TATTTTGATCATGGTAAGGCTTTTTTTTTTTTCCAAAAAAA | |||||||||||||
| Altered gDNA sequence snippet | TATTTTGATCATGGTAAGGCTTTTTTTTTTTCCAAAAAAA | |||||||||||||
| Original cDNA sequence snippet | N/A | |||||||||||||
| Altered cDNA sequence snippet | N/A | |||||||||||||
| 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 | ||||||||||||||
| Position of stopcodon in wt / mu CDS | N/A | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | N/A | |||||||||||||
| Position of stopcodon in wt / mu cDNA | N/A | |||||||||||||
| Position of start ATG in wt / mu cDNA | 169 / 169 | |||||||||||||
| Last intron/exon boundary | 9309 | |||||||||||||
| Theoretical NMD boundary in CDS | 9090 | |||||||||||||
| Length of CDS | 9345 | |||||||||||||
| Coding sequence (CDS) position | N/A | |||||||||||||
| cDNA position | N/A | |||||||||||||
| gDNA position | 48762 / 48764 | |||||||||||||
| Chromosomal position | 214651946 / 214651948 | |||||||||||||
| Speed | 0.06 s | |||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
| Analysed issue | Analysis result | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr1:214651947delT (GRCh38) | |||||||||||||
| Gene symbol | CENPF | |||||||||||||
| Gene constraints | no data | |||||||||||||
| Ensembl transcript ID | ENST00000706765.1 | |||||||||||||
| Genbank transcript ID | ||||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Deletion | |||||||||||||
| Gene region | intron | |||||||||||||
| DNA changes | c.7984-881delT g.48763delT | |||||||||||||
| AA changes | N/A | |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | N/A | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | N/A | |||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | N/A | |||||||||||||
| Kozak consensus sequence altered? | N/A | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | N/A | |||||||||||||
| Chromosome | 1 | |||||||||||||
| Strand | 1 | |||||||||||||
| Original gDNA sequence snippet | TATTTTGATCATGGTAAGGCTTTTTTTTTTTTCCAAAAAAA | |||||||||||||
| Altered gDNA sequence snippet | TATTTTGATCATGGTAAGGCTTTTTTTTTTTCCAAAAAAA | |||||||||||||
| Original cDNA sequence snippet | N/A | |||||||||||||
| Altered cDNA sequence snippet | N/A | |||||||||||||
| 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 KYEVEIQTYR EKLTSKEECL SSQKLEIDLL KSSKEELNNS LKATTQILEE LKKTKMDNLK YVNQLKKENE RAQGKMKLLI KSCKQLEEEK EILQKELSQL QAAQEKQKTG TVMDTKVDEL TTEIKELKET LEEKTKEADE YLDKYCSLLI SHEKLEKAKE MLETQVAHLC SQQSKQDSRG SPLLGPVVPG PSPIPSVTEK RLSSGQNKAS GKRQRSSGIW ENGRGPTPAT PESFSKKSKK AVMSGIHPAE DTEGTEFEPE GLPEVVKKGF ADIPTGKTSP YILRRTTMAT RTSPRLAAQK LALSPLSLGK ENLAESSKPT AGGSRSQKVK VAQRSPVDSG TILREPTTKS VPVNNLPERS PTDSPREGLR VKRGRLVPSP KAGLESNGSE NCKVQ* | |||||||||||||
| Mutated AA sequence | ||||||||||||||
| Position of stopcodon in wt / mu CDS | N/A | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | N/A | |||||||||||||
| Position of stopcodon in wt / mu cDNA | N/A | |||||||||||||
| Position of start ATG in wt / mu cDNA | 169 / 169 | |||||||||||||
| Last intron/exon boundary | 9132 | |||||||||||||
| Theoretical NMD boundary in CDS | 8913 | |||||||||||||
| Length of CDS | 9168 | |||||||||||||
| Coding sequence (CDS) position | N/A | |||||||||||||
| cDNA position | N/A | |||||||||||||
| gDNA position | 48762 / 48764 | |||||||||||||
| Chromosomal position | 214651946 / 214651948 | |||||||||||||
| Speed | 0.02 s | |||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project