ExonSkipDB Logo

Home

Download

Statistics

Landscape

Help

Contact
Center for Computational Systems Medicine
leaf

Gene summary

leaf

Gene structures and expression levels

leaf

Exon skipping events with PSIs in TCGA

leaf

Exon skipping events with PSIs in GTEx

leaf

Open reading frame (ORF) annotation in the exon skipping event

leaf

Exon skipping events in the canonical protein sequence

leaf

SNVs in the skipped exons with depth of coverage

leaf

Splicing Quantitative Trait Loci (sQTLs) in the skipped exons

leaf

Splicing Quantitative Trait Methylation (sQTM) in the skipped exon

leaf

Related drugs with this gene

leaf

Related diseases with this gene

Gene summary for CENPF

check button Gene summary
Gene informationGene symbol

CENPF

Gene ID

1063

Gene namecentromere protein F
SynonymsCENF|CILD31|PRO1779|STROMS|hcp-1
Cytomap

1q41

Type of geneprotein-coding
Descriptioncentromere protein FAH antigenCENP-F kinetochore proteincell-cycle-dependent 350K nuclear proteincentromere protein F, 350/400kDakinetochore protein CENPFmitosin
Modification date20180522
UniProtAcc

P49454

ContextPubMed: CENPF [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract]
- Title (PMID)

check button Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez
GeneGO IDGO termPubMed ID
CENPF

GO:0015031

protein transport

12974617

CENPF

GO:0045892

negative regulation of transcription, DNA-templated

15677469

CENPF

GO:0051310

metaphase plate congression

15870278


Top

Exon skipping events across known transcript of Ensembl for CENPF from UCSC genome browser

check buttonSkipped exons in TCGA and GTEx based on Ensembl gene isoform structure.
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

Top

Gene isoform structures and expression levels for CENPF

check button Expression levels of gene isoforms across TCGA.
gencode gene structure

check button Expression levels of gene isoforms across GTEx.
gencode gene structure


Top

Exon skipping events with PSIs in TCGA for CENPF

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_179701214811208:214811344:214813263:214816667:214817899:214820743214813263:214816667ENSG00000117724.8ENST00000366955.3
exon_skip_179741214813263:214816667:214817899:214820743:214822017:214822170214817899:214820743ENSG00000117724.8ENST00000366955.3
exon_skip_179761214822017:214822170:214825052:214825229:214826170:214826332214825052:214825229ENSG00000117724.8ENST00000467765.1,ENST00000366955.3

check button PSI values of skipped exons in TCGA.
psi tcga

Top

Exon skipping events with PSIs in GTEx for CENPF

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_179701214811208:214811344:214813263:214816667:214817899:214820743214813263:214816667ENSG00000117724.8ENST00000366955.3
exon_skip_179741214813263:214816667:214817899:214820743:214822017:214822170214817899:214820743ENSG00000117724.8ENST00000366955.3
exon_skip_179761214822017:214822170:214825052:214825229:214826170:214826332214825052:214825229ENSG00000117724.8ENST00000366955.3,ENST00000467765.1

check button PSI values of skipped exons in GTEx.
psi gtex

* Skipped exon sequences.

Top

Open reading frame (ORF) annotation in the exon skipping event for CENPF

check button Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST00000366955214813263214816667Frame-shift
ENST00000366955214817899214820743In-frame
ENST00000366955214825052214825229In-frame

check button Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST00000366955214813263214816667Frame-shift
ENST00000366955214817899214820743In-frame
ENST00000366955214825052214825229In-frame

Top

Infer the effects of exon skipping event on protein functional features for CENPF

check button Exon skipping at the protein sequence level and followed lost functional features.
* Click on the image to enlarge it in a new window.
prot feature distribution

check button Loci of skipped exons in TCGA across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST000003669551032431142148178992148207435155799816622610
ENST000003669551032431142148250522148252298152832826612720

check button Loci of skipped exons in GTEx across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST000003669551032431142148178992148207435155799816622610
ENST000003669551032431142148250522148252298152832826612720

check button Lost protein functional features of individual exon skipping events in TCGA.
UniProt acc.Start of exon skipping (AA)End of exon skipping (AA)Protein feature start (AA)Protein feature end (AA)Category of protein featureDescription of feature
P494541662261013207ChainID=PRO_0000089477;Note=Centromere protein F
P494541662261016421746Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
P494541662261018622987Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
P494541662261017471747Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:16964243,ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:23186163;Dbxref=PMID:16964243,PMID:18669648,PMID:20068231,PMID
P494541662261017481748Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648
P494541662261017501750Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:16964243,ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:23186163;Dbxref=PMID:16964243,PMID:18669648,PMID:20068231,PMID
P494541662261018221822Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163
P494541662261019581958Modified residueNote=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163
P494541662261019641964Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163
P494541662261019881988Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:20068231;Dbxref=PMID:20068231
P494541662261025122512Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648
P494541662261025132513Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:20068231;Dbxref=PMID:18669648,PMID:20068231
P494541662261018641864Natural variantID=VAR_055638;Note=D->N;Dbxref=dbSNP:rs3748692
P494541662261020112011Natural variantID=VAR_034723;Note=E->A;Dbxref=dbSNP:rs3790647
P494541662261021222447RegionNote=Interaction with NDE1 and NDEL1;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17600710;Dbxref=PMID:17600710
P494541662261022072568RegionNote=2 X 177 AA tandem repeats
P494541662261024883113RegionNote=Sufficient for centromere localization
P494541662261024882925RegionNote=Sufficient for self-association
P494541662261022072386RepeatNote=2-1
P494541662261023892568RepeatNote=2-2
P494541662261018111811Sequence conflictNote=V->L;Ontology_term=ECO:0000305;evidence=ECO:0000305
P494541662261022422243Sequence conflictNote=ER->DG;Ontology_term=ECO:0000305;evidence=ECO:0000305
P494541662261023352335Sequence conflictNote=L->Q;Ontology_term=ECO:0000305;evidence=ECO:0000305
P494541662261024922492Sequence conflictNote=N->D;Ontology_term=ECO:0000305;evidence=ECO:0000305
P494541662261024922492Sequence conflictNote=N->D;Ontology_term=ECO:0000305;evidence=ECO:0000305
P494541662261025452561Sequence conflictNote=ELNERVAALHNDQEACK->SSMREWQPCIMTKKPVS;Ontology_term=ECO:0000305;evidence=ECO:0000305
P494542661272013207ChainID=PRO_0000089477;Note=Centromere protein F
P494542661272018622987Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
P494542661272024883113RegionNote=Sufficient for centromere localization
P494542661272024882925RegionNote=Sufficient for self-association


check button Lost protein functional features of individual exon skipping events in GTEx.
UniProt acc.Start of exon skipping (AA)End of exon skipping (AA)Protein feature start (AA)Protein feature end (AA)Category of protein featureDescription of feature
P494541662261013207ChainID=PRO_0000089477;Note=Centromere protein F
P494541662261016421746Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
P494541662261018622987Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
P494541662261017471747Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:16964243,ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:23186163;Dbxref=PMID:16964243,PMID:18669648,PMID:20068231,PMID
P494541662261017481748Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648
P494541662261017501750Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:16964243,ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:23186163;Dbxref=PMID:16964243,PMID:18669648,PMID:20068231,PMID
P494541662261018221822Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163
P494541662261019581958Modified residueNote=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163
P494541662261019641964Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163
P494541662261019881988Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:20068231;Dbxref=PMID:20068231
P494541662261025122512Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648
P494541662261025132513Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:20068231;Dbxref=PMID:18669648,PMID:20068231
P494541662261018641864Natural variantID=VAR_055638;Note=D->N;Dbxref=dbSNP:rs3748692
P494541662261020112011Natural variantID=VAR_034723;Note=E->A;Dbxref=dbSNP:rs3790647
P494541662261021222447RegionNote=Interaction with NDE1 and NDEL1;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17600710;Dbxref=PMID:17600710
P494541662261022072568RegionNote=2 X 177 AA tandem repeats
P494541662261024883113RegionNote=Sufficient for centromere localization
P494541662261024882925RegionNote=Sufficient for self-association
P494541662261022072386RepeatNote=2-1
P494541662261023892568RepeatNote=2-2
P494541662261018111811Sequence conflictNote=V->L;Ontology_term=ECO:0000305;evidence=ECO:0000305
P494541662261022422243Sequence conflictNote=ER->DG;Ontology_term=ECO:0000305;evidence=ECO:0000305
P494541662261023352335Sequence conflictNote=L->Q;Ontology_term=ECO:0000305;evidence=ECO:0000305
P494541662261024922492Sequence conflictNote=N->D;Ontology_term=ECO:0000305;evidence=ECO:0000305
P494541662261024922492Sequence conflictNote=N->D;Ontology_term=ECO:0000305;evidence=ECO:0000305
P494541662261025452561Sequence conflictNote=ELNERVAALHNDQEACK->SSMREWQPCIMTKKPVS;Ontology_term=ECO:0000305;evidence=ECO:0000305
P494542661272013207ChainID=PRO_0000089477;Note=Centromere protein F
P494542661272018622987Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
P494542661272024883113RegionNote=Sufficient for centromere localization
P494542661272024882925RegionNote=Sufficient for self-association


Top

SNVs in the skipped exons for CENPF

check button - Lollipop plot for presenting exon skipping associated SNVs.
* Click on the image to enlarge it in a new window.
lollipop

check button - Differential PSIs between mutated versus non-mutated samples.
CENPF_ESCA_exon_skip_17970_psi_boxplot.png
boxplot
CENPF_LIHC_exon_skip_17970_psi_boxplot.png
boxplot
CENPF_SKCM_exon_skip_17970_psi_boxplot.png
boxplot
CENPF_STAD_exon_skip_17970_psi_boxplot.png
boxplot

check button - Non-synonymous mutations located in the skipped exons in TCGA.
Cancer typeSampleESIDSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
LIHCTCGA-DD-A39Y-01exon_skip_17970
214813264214816667214813282214813282Frame_Shift_DelA-p.E534fs
LIHCTCGA-DD-A1EG-01exon_skip_17970
214813264214816667214813306214813306Frame_Shift_DelA-p.E542fs
LIHCTCGA-DD-A39Y-01exon_skip_17970
214813264214816667214813306214813306Frame_Shift_DelA-p.E542fs
LIHCTCGA-G3-A3CJ-01exon_skip_17970
214813264214816667214813306214813306Frame_Shift_DelA-p.E542fs
LIHCTCGA-DD-A3A0-01exon_skip_17970
214813264214816667214813561214813561Frame_Shift_DelA-p.E627fs
LIHCTCGA-DD-A3A0-01exon_skip_17970
214813264214816667214813635214813635Frame_Shift_DelA-p.K652fs
LIHCTCGA-DD-A1EG-01exon_skip_17970
214813264214816667214813982214813982Frame_Shift_DelA-p.L767fs
LIHCTCGA-DD-A3A0-01exon_skip_17970
214813264214816667214814126214814126Frame_Shift_DelT-p.R815fs
LIHCTCGA-DD-A1EG-01exon_skip_17970
214813264214816667214814471214814471Frame_Shift_DelA-p.L930fs
LIHCTCGA-DD-A3A0-01exon_skip_17970
214813264214816667214814471214814471Frame_Shift_DelA-p.L930fs
LIHCTCGA-G3-A3CJ-01exon_skip_17970
214813264214816667214814667214814667Frame_Shift_DelA-p.K996fs
BLCATCGA-XF-A9SK-01exon_skip_17970
214813264214816667214814820214814820Frame_Shift_DelC-p.Q1047fs
LIHCTCGA-DD-AACT-01exon_skip_17970
214813264214816667214815369214815370Frame_Shift_DelGA-p.1229_1230del
LIHCTCGA-DD-A1EG-01exon_skip_17970
214813264214816667214816105214816105Frame_Shift_DelC-p.S1475fs
LIHCTCGA-BC-A3KG-01exon_skip_17970
214813264214816667214816312214816312Frame_Shift_DelC-p.A1544fs
LIHCTCGA-DD-A39Y-01exon_skip_17970
214813264214816667214816551214816551Frame_Shift_DelT-p.L1624fs
LIHCTCGA-DD-A39Y-01214817900214820743214817935214817935Frame_Shift_DelA-p.S1674fs
LIHCTCGA-DD-A1EG-01214817900214820743214818035214818035Frame_Shift_DelA-p.K1708fs
LIHCTCGA-DD-A1EG-01214817900214820743214818125214818125Frame_Shift_DelA-p.K1738fs
LIHCTCGA-DD-A3A0-01214817900214820743214818202214818202Frame_Shift_DelG-p.L1763fs
LIHCTCGA-DD-A39Y-01214817900214820743214818340214818340Frame_Shift_DelA-p.S1809fs
LIHCTCGA-DD-A39Y-01214817900214820743214818793214818793Frame_Shift_DelA-p.R1960fs
LIHCTCGA-BC-A10S-01214817900214820743214818826214818826Frame_Shift_DelA-p.S1971fs
STADTCGA-CG-5721-01214817900214820743214818826214818826Frame_Shift_DelA-p.S1971X
LIHCTCGA-DD-A39Y-01214817900214820743214818858214818858Frame_Shift_DelA-p.E1982fs
LIHCTCGA-DD-A39Y-01214817900214820743214819474214819474Frame_Shift_DelA-p.L2187fs
STADTCGA-HU-A4GU-01214817900214820743214819474214819474Frame_Shift_DelA-p.L2187fs
LIHCTCGA-DD-A39Y-01214817900214820743214819512214819512Frame_Shift_DelT-p.V2200fs
LIHCTCGA-DD-AAVW-01214817900214820743214819555214819558Frame_Shift_DelTCTG-p.2214_2215del
KIRPTCGA-UN-AAZ9-01214817900214820743214819565214819565Frame_Shift_DelC-p.K2217fs
LIHCTCGA-DD-A3A0-01214817900214820743214819575214819575Frame_Shift_DelA-p.E2221fs
LIHCTCGA-DD-A39Y-01214817900214820743214819622214819622Frame_Shift_DelA-p.K2237fs
LIHCTCGA-DD-A1EG-01214817900214820743214820091214820091Frame_Shift_DelA-p.E2393fs
LIHCTCGA-DD-A1EG-01214817900214820743214820390214820390Frame_Shift_DelA-p.K2493fs
LIHCTCGA-DD-A39Y-01214817900214820743214820390214820390Frame_Shift_DelA-p.K2493fs
LIHCTCGA-DD-A39Y-01214817900214820743214820502214820502Frame_Shift_DelA-p.Q2530fs
LIHCTCGA-DD-A3A0-01214817900214820743214820531214820531Frame_Shift_DelA-p.K2540fs
UCECTCGA-BS-A0UM-01exon_skip_17976
214825053214825229214825218214825221Frame_Shift_DelACAA-p.K2719fs
UCECTCGA-BS-A0UM-01exon_skip_17976
214825053214825229214825218214825221Frame_Shift_DelACAA-p.T2717fs
LIHCTCGA-DD-A3A0-01exon_skip_17976
214825053214825229214825224214825224Frame_Shift_DelA-p.K2719fs
ACCTCGA-OR-A5KX-01exon_skip_17970
214813264214816667214814882214814883Frame_Shift_Ins-Ap.R1067fs
LIHCTCGA-BC-A112-01214817900214820743214818421214818422Frame_Shift_Ins-Ap.R1837fs
UCECTCGA-D1-A177-01214817900214820743214818825214818826Frame_Shift_Ins-Ap.S1971fs
STADTCGA-CD-A4MG-01214817900214820743214818826214818827Frame_Shift_Ins-Ap.S1971fs
STADTCGA-D7-A4YY-01214817900214820743214818826214818827Frame_Shift_Ins-Ap.S1971fs
LIHCTCGA-BC-A112-01214817900214820743214819819214819820Frame_Shift_Ins-Ap.S*2302fs
LIHCTCGA-BC-A112-01214817900214820743214819853214819854Frame_Shift_Ins-Ap.K2314fs
MESOTCGA-UD-AAC1-01214817900214820743214820025214820026Frame_Shift_Ins-Ap.E2371fs
KIRCTCGA-AK-3456-01214817900214820743214820278214820279Frame_Shift_Ins-Gp.A2455fs
BLCATCGA-DK-AA71-01exon_skip_17970
214813264214816667214813278214813278Nonsense_MutationCTp.Q533*
OVTCGA-13-0883-01exon_skip_17970
214813264214816667214813302214813302Nonsense_MutationCTp.Q541*
HNSCTCGA-QK-A6IJ-01exon_skip_17970
214813264214816667214813371214813371Nonsense_MutationGTp.E564*
KIRPTCGA-P4-A5E6-01exon_skip_17970
214813264214816667214813548214813548Nonsense_MutationATp.K623*
KIRPTCGA-P4-A5E6-01exon_skip_17970
214813264214816667214813548214813548Nonsense_MutationATp.K623X
ESCATCGA-LN-A9FP-01exon_skip_17970
214813264214816667214814241214814241Nonsense_MutationGTp.E854*
UCECTCGA-B5-A0JY-01exon_skip_17970
214813264214816667214814274214814274Nonsense_MutationGTp.E865*
UCSTCGA-ND-A4WC-01exon_skip_17970
214813264214816667214814274214814274Nonsense_MutationGTp.E865*
BLCATCGA-GV-A3QG-01exon_skip_17970
214813264214816667214814730214814730Nonsense_MutationCTp.Q1017*
ESCATCGA-L5-A8NH-01exon_skip_17970
214813264214816667214814805214814805Nonsense_MutationATp.K1042*
ESCATCGA-L5-A8NH-01exon_skip_17970
214813264214816667214814805214814805Nonsense_MutationATp.K1042X
COADTCGA-AA-3510-01exon_skip_17970
214813264214816667214814931214814931Nonsense_MutationGTp.E1084X
UCECTCGA-AP-A051-01exon_skip_17970
214813264214816667214815000214815000Nonsense_MutationCTp.Q1107*
KIRPTCGA-MH-A560-01exon_skip_17970
214813264214816667214815375214815375Nonsense_MutationGTp.E1232*
KIRPTCGA-MH-A560-01exon_skip_17970
214813264214816667214815375214815375Nonsense_MutationGTp.E1232X
LUADTCGA-50-5049-01exon_skip_17970
214813264214816667214815375214815375Nonsense_MutationGTp.E1232*
PAADTCGA-IB-7651-01exon_skip_17970
214813264214816667214815450214815450Nonsense_MutationGTp.E1257*
PAADTCGA-IB-7651-01exon_skip_17970
214813264214816667214815450214815450Nonsense_MutationGTp.E1257X
STADTCGA-D7-A4YU-01exon_skip_17970
214813264214816667214816265214816265Nonsense_MutationCAp.C1528*
STADTCGA-D7-A4YU-01exon_skip_17970
214813264214816667214816265214816265Nonsense_MutationCAp.C1528X
LUSCTCGA-46-3769-01exon_skip_17970
214813264214816667214816281214816281Nonsense_MutationGTp.E1534*
SKCMTCGA-RP-A693-06exon_skip_17970
214813264214816667214816611214816611Nonsense_MutationCTp.Q1644X
BLCATCGA-UY-A9PB-01214817900214820743214817934214817934Nonsense_MutationCGp.S1674*
LGGTCGA-FG-A87N-01214817900214820743214818125214818125Nonsense_MutationATp.K1738*
LUADTCGA-83-5908-01214817900214820743214818284214818284Nonsense_MutationGTp.E1791*
SKCMTCGA-Z2-A8RT-06214817900214820743214818312214818312Nonsense_MutationTAp.L1800*
UCECTCGA-BS-A0TC-01214817900214820743214818329214818329Nonsense_MutationGTp.E1806*
LUADTCGA-05-4418-01214817900214820743214818476214818476Nonsense_MutationGTp.E1855*
UCECTCGA-B5-A11E-01214817900214820743214818809214818809Nonsense_MutationGTp.E1966*
LUADTCGA-69-7979-01214817900214820743214819355214819355Nonsense_MutationGTp.E2148*
UCECTCGA-AP-A056-01214817900214820743214819670214819670Nonsense_MutationGTp.E2253*
PRADTCGA-HC-7077-01214817900214820743214819712214819712Nonsense_MutationGTp.E2267*

check button - Depth of coverage in the three exons composing exon skipping event
Depth of coverage in three exonsMutation description
CENPF_214811208_214811344_214813263_214816667_214817899_214820743_TCGA-L5-A8NH-01Sample: TCGA-L5-A8NH-01
Cancer type: ESCA
ESID: exon_skip_17970
Skipped exon start: 214813264
Skipped exon end: 214816667
Mutation start: 214814805
Mutation end: 214814805
Mutation type: Nonsense_Mutation
Reference seq: A
Mutation seq: T
AAchange: p.K1042X
CENPF_214811208_214811344_214813263_214816667_214817899_214820743_TCGA-L5-A8NH-01Sample: TCGA-L5-A8NH-01
Cancer type: ESCA
ESID: exon_skip_17970
Skipped exon start: 214813264
Skipped exon end: 214816667
Mutation start: 214814805
Mutation end: 214814805
Mutation type: Nonsense_Mutation
Reference seq: A
Mutation seq: T
AAchange: p.K1042*
exon_skip_17970_ESCA_TCGA-L5-A8NH-01.png
boxplot
exon_skip_313855_ESCA_TCGA-L5-A8NH-01.png
boxplot
exon_skip_37386_ESCA_TCGA-L5-A8NH-01.png
boxplot
exon_skip_37388_ESCA_TCGA-L5-A8NH-01.png
boxplot
exon_skip_455353_ESCA_TCGA-L5-A8NH-01.png
boxplot
exon_skip_464954_ESCA_TCGA-L5-A8NH-01.png
boxplot
CENPF_214811208_214811344_214813263_214816667_214817899_214820743_TCGA-D7-A4YU-01Sample: TCGA-D7-A4YU-01
Cancer type: STAD
ESID: exon_skip_17970
Skipped exon start: 214813264
Skipped exon end: 214816667
Mutation start: 214816265
Mutation end: 214816265
Mutation type: Nonsense_Mutation
Reference seq: C
Mutation seq: A
AAchange: p.C1528X
CENPF_214811208_214811344_214813263_214816667_214817899_214820743_TCGA-D7-A4YU-01Sample: TCGA-D7-A4YU-01
Cancer type: STAD
ESID: exon_skip_17970
Skipped exon start: 214813264
Skipped exon end: 214816667
Mutation start: 214816265
Mutation end: 214816265
Mutation type: Nonsense_Mutation
Reference seq: C
Mutation seq: A
AAchange: p.C1528*
exon_skip_17970_STAD_TCGA-D7-A4YU-01.png
boxplot

check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
GB1_CENTRAL_NERVOUS_SYSTEM214813264214816667214814968214814978Frame_Shift_DelATCAGAATCTG-p.NQNL1096fs
LUDLU1_LUNG214813264214816667214815471214815472Frame_Shift_DelTG-p.C1264fs
COLO668_LUNG214817900214820743214818202214818202Frame_Shift_DelG-p.L1763fs
COLO684_ENDOMETRIUM214817900214820743214818399214818399Frame_Shift_DelA-p.E1829fs
22RV1_PROSTATE214817900214820743214818826214818826Frame_Shift_DelA-p.S1971fs
HEC108_ENDOMETRIUM214817900214820743214818826214818826Frame_Shift_DelA-p.S1971fs
HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE214817900214820743214818826214818826Frame_Shift_DelA-p.S1971fs
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE214817900214820743214818858214818858Frame_Shift_DelA-p.E1982fs
HCC2108_LUNG214817900214820743214819497214819497Frame_Shift_DelC-p.A2195fs
SNU1040_LARGE_INTESTINE214813264214816667214813492214813493Frame_Shift_Ins-Ap.LK604fs
CL34_LARGE_INTESTINE214813264214816667214813566214813567Frame_Shift_Ins-Tp.L629fs
YT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE214813264214816667214813530214813530Missense_MutationACp.T617P
RH30_SOFT_TISSUE214813264214816667214813567214813567Missense_MutationTGp.L629R
SJRH30_SOFT_TISSUE214813264214816667214813567214813567Missense_MutationTGp.L629R
CW2_LARGE_INTESTINE214813264214816667214813598214813598Missense_MutationCAp.N639K
DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE214813264214816667214813619214813619Missense_MutationCAp.H646Q
WSUNHL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE214813264214816667214813647214813647Missense_MutationATp.I656L
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE214813264214816667214813713214813713Missense_MutationGCp.E678Q
SNU1040_LARGE_INTESTINE214813264214816667214813749214813749Missense_MutationTCp.S690P
NY_BONE214813264214816667214813786214813786Missense_MutationATp.E702V
HEC6_ENDOMETRIUM214813264214816667214813903214813903Missense_MutationTCp.L741S
SW1271_LUNG214813264214816667214813989214813989Missense_MutationAGp.K770E
JHUEM7_ENDOMETRIUM214813264214816667214814026214814026Missense_MutationGTp.R782I
MDAMB157_BREAST214813264214816667214814031214814031Missense_MutationCGp.L784V
CESS_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE214813264214816667214814100214814100Missense_MutationAGp.M807V
HEC265_ENDOMETRIUM214813264214816667214814102214814102Missense_MutationGAp.M807I
A253_SALIVARY_GLAND214813264214816667214814119214814119Missense_MutationACp.E813A
NCIH2342_LUNG214813264214816667214814161214814161Missense_MutationTGp.I827S
WM35_SKIN214813264214816667214814162214814162Missense_MutationCGp.I827M
HEC6_ENDOMETRIUM214813264214816667214814316214814316Missense_MutationGAp.A879T
SNU1040_LARGE_INTESTINE214813264214816667214814332214814332Missense_MutationGAp.R884H
OC316_OVARY214813264214816667214814817214814817Missense_MutationGAp.A1046T
OC314_OVARY214813264214816667214814817214814817Missense_MutationGAp.A1046T
HCC2998_LARGE_INTESTINE214813264214816667214814906214814906Missense_MutationGTp.K1075N
HEC251_ENDOMETRIUM214813264214816667214814930214814930Missense_MutationACp.Q1083H
ESS1_ENDOMETRIUM214813264214816667214814965214814965Missense_MutationGTp.R1095I
JHUEM7_ENDOMETRIUM214813264214816667214815271214815271Missense_MutationAGp.E1197G
GP5D_LARGE_INTESTINE214813264214816667214815394214815394Missense_MutationTCp.L1238S
L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE214813264214816667214815496214815496Missense_MutationAGp.Y1272C
SNUC2A_LARGE_INTESTINE214813264214816667214815508214815508Missense_MutationCAp.P1276H
SNUC2B_LARGE_INTESTINE214813264214816667214815508214815508Missense_MutationCAp.P1276H
OCILY7_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE214813264214816667214815574214815574Missense_MutationAGp.N1298S
NY_BONE214813264214816667214815642214815642Missense_MutationCAp.L1321M
NCIH1436_LUNG214813264214816667214815699214815699Missense_MutationGAp.G1340R
HCT15_LARGE_INTESTINE214813264214816667214815774214815774Missense_MutationCAp.P1365T
C10_LARGE_INTESTINE214813264214816667214815813214815813Missense_MutationCTp.P1378S
CORL311_LUNG214813264214816667214816062214816062Missense_MutationGTp.V1461L
SKMEL5_SKIN214813264214816667214816158214816158Missense_MutationTGp.S1493A
SKMEL5_SKIN214813264214816667214816158214816159Missense_MutationTCGAp.S1493D
SKMEL5_SKIN214813264214816667214816159214816159Missense_MutationCAp.S1493Y
SNU1079_BILIARY_TRACT214813264214816667214816198214816198Missense_MutationTGp.M1506R
IGR1_SKIN214813264214816667214816305214816305Missense_MutationCTp.P1542S
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE214813264214816667214816354214816354Missense_MutationTCp.V1558A
SCC4_UPPER_AERODIGESTIVE_TRACT214813264214816667214816391214816391Missense_MutationGAp.M1570I
SNU81_LARGE_INTESTINE214813264214816667214816414214816414Missense_MutationACp.N1578T
HEC251_ENDOMETRIUM214813264214816667214816420214816420Missense_MutationATp.E1580V
HCC515_LUNG214813264214816667214816471214816472Missense_MutationGCTTp.C1597F
HCC515_LUNG214813264214816667214816471214816471Missense_MutationGTp.C1597F
HEC108_ENDOMETRIUM214813264214816667214816486214816486Missense_MutationAGp.Y1602C
JHUEM1_ENDOMETRIUM214813264214816667214816558214816558Missense_MutationCTp.A1626V
MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE214817900214820743214817972214817972Missense_MutationACp.K1687Q
HLF_LIVER214817900214820743214817975214817975Missense_MutationCAp.H1688N
MDAMB468_BREAST214817900214820743214817976214817976Missense_MutationAGp.H1688R
BFTC905_URINARY_TRACT214817900214820743214818036214818036Missense_MutationACp.K1708T
AGS_STOMACH214817900214820743214818059214818059Missense_MutationAGp.K1716E
LCLC103H_LUNG214817900214820743214818083214818083Missense_MutationGCp.E1724Q
GEO_LARGE_INTESTINE214817900214820743214818126214818126Missense_MutationACp.K1738T
MEC1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE214817900214820743214818195214818195Missense_MutationAGp.D1761G
SNU1040_LARGE_INTESTINE214817900214820743214818387214818387Missense_MutationGAp.C1825Y
SNU1_STOMACH214817900214820743214818448214818448Missense_MutationACp.K1845N
LN464_CENTRAL_NERVOUS_SYSTEM214817900214820743214818530214818530Missense_MutationCTp.H1873Y
ACN_AUTONOMIC_GANGLIA214817900214820743214818530214818530Missense_MutationCTp.H1873Y
HOS_BONE214817900214820743214818588214818588Missense_MutationGTp.S1892I
CHLA266_SOFT_TISSUE214817900214820743214818629214818629Missense_MutationAGp.R1906G
JJN3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE214817900214820743214818656214818656Missense_MutationGCp.E1915Q
HEC1A_ENDOMETRIUM214817900214820743214818668214818668Missense_MutationCAp.L1919I
SNU1040_LARGE_INTESTINE214817900214820743214818824214818824Missense_MutationTCp.S1971P
ESS1_ENDOMETRIUM214817900214820743214818834214818834Missense_MutationCAp.T1974N
HEC59_ENDOMETRIUM214817900214820743214818932214818932Missense_MutationGAp.A2007T
LCLC103H_LUNG214817900214820743214818970214818970Missense_MutationGTp.L2019F
JHUEM7_ENDOMETRIUM214817900214820743214819019214819019Missense_MutationACp.K2036Q
YD38_UPPER_AERODIGESTIVE_TRACT214817900214820743214819068214819068Missense_MutationGAp.C2052Y
MZ7MEL_SKIN214817900214820743214819070214819070Missense_MutationGAp.E2053K
MOLP2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE214817900214820743214819084214819084Missense_MutationATp.Q2057H
SNU1040_LARGE_INTESTINE214817900214820743214819088214819088Missense_MutationGAp.A2059T
SUM149PT_BREAST214817900214820743214819281214819281Missense_MutationAGp.K2123R
MCC13_SKIN214817900214820743214819292214819292Missense_MutationCTp.R2127C
NCIH510_LUNG214817900214820743214819293214819293Missense_MutationGTp.R2127L
HEC251_ENDOMETRIUM214817900214820743214819361214819361Missense_MutationGTp.D2150Y
DG75_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE214817900214820743214819380214819380Missense_MutationTGp.V2156G
SKGIIIA_CERVIX214817900214820743214819472214819472Missense_MutationCGp.L2187V
JK1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE214817900214820743214819490214819490Missense_MutationGAp.E2193K
HCC2998_LARGE_INTESTINE214817900214820743214819552214819552Missense_MutationACp.E2213D
KMRC3_KIDNEY214817900214820743214819967214819967Missense_MutationCAp.Q2352K
TUHR14TKB_KIDNEY214817900214820743214819967214819967Missense_MutationCAp.Q2352K
JHUEM7_ENDOMETRIUM214817900214820743214819993214819993Missense_MutationGTp.E2360D
KON_UPPER_AERODIGESTIVE_TRACT214817900214820743214820081214820081Missense_MutationAGp.I2390V
CHLA258_BONE214817900214820743214820198214820198Missense_MutationAGp.K2429E
QGP1_PANCREAS214817900214820743214820261214820261Missense_MutationCTp.L2450F
DMS53_LUNG214817900214820743214820297214820297Missense_MutationGAp.E2462K
LS123_LARGE_INTESTINE214817900214820743214820297214820297Missense_MutationGAp.E2462K
NCIH716_LARGE_INTESTINE214817900214820743214820297214820297Missense_MutationGAp.E2462K
SNUC2B_LARGE_INTESTINE214817900214820743214820297214820297Missense_MutationGAp.E2462K
SW1463_LARGE_INTESTINE214817900214820743214820297214820297Missense_MutationGAp.E2462K
SNU1_STOMACH214817900214820743214820309214820309Missense_MutationGAp.A2466T
KIJK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE214817900214820743214820450214820450Missense_MutationGAp.G2513S
MDAMB361_BREAST214817900214820743214820529214820529Missense_MutationCTp.S2539F
MDAMB361_BREAST214817900214820743214820543214820543Missense_MutationGAp.V2544M
PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE214817900214820743214820593214820593Missense_MutationTAp.N2560K
MOLT3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE214817900214820743214820624214820624Missense_MutationGAp.V2571M
SNU81_LARGE_INTESTINE214817900214820743214820686214820686Missense_MutationGTp.K2591N
HEC251_ENDOMETRIUM214817900214820743214820695214820695Missense_MutationGTp.E2594D
DAOY_CENTRAL_NERVOUS_SYSTEM214813264214816667214813425214813425Nonsense_MutationGTp.E582*
HT115_LARGE_INTESTINE214813264214816667214813521214813521Nonsense_MutationGTp.E614*
JHUEM7_ENDOMETRIUM214813264214816667214813836214813836Nonsense_MutationGTp.E719*
T84_LARGE_INTESTINE214813264214816667214814022214814022Nonsense_MutationCTp.Q781*
NCIH2291_LUNG214813264214816667214814919214814919Nonsense_MutationATp.K1080*
GCT_SOFT_TISSUE214813264214816667214815132214815132Nonsense_MutationCTp.Q1151*
NCIH2087_LUNG214813264214816667214815658214815658Nonsense_MutationCGp.S1326*
NCIH2009_LUNG214813264214816667214816434214816434Nonsense_MutationGTp.E1585*
A673_BONE214813264214816667214816494214816494Nonsense_MutationGTp.E1605*
ZR7530_BREAST214817900214820743214818353214818353Nonsense_MutationCTp.Q1814*
BICR22_UPPER_AERODIGESTIVE_TRACT214817900214820743214818419214818419Nonsense_MutationATp.K1836*
HCC2998_LARGE_INTESTINE214817900214820743214818425214818425Nonsense_MutationGTp.E1838*
SISO_CERVIX214817900214820743214819091214819091Nonsense_MutationCTp.Q2060*
GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE214817900214820743214819091214819091Nonsense_MutationCTp.Q2060*
NCIH1930_LUNG214817900214820743214819307214819307Nonsense_MutationGTp.E2132*
HCC2998_LARGE_INTESTINE214817900214820743214820258214820258Nonsense_MutationGTp.E2449*

Top

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CENPF

check button sQTL information located at the skipped exons.
Exon skip IDChromosomeThree exonsSkippped exonENSTCancer typeSNP idLocationDNA change (ref/var)P-value

Top

Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CENPF


Top

Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CENPF


Top

RelatedDrugs for CENPF

check button Approved drugs targeting this gene.
(DrugBank Version 5.1.0 2018-04-02)
GeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

Top

RelatedDiseases for CENPF

check button Diseases associated with this gene.
(DisGeNet 4.0)
GeneDisease IDDisease name# pubmedsSource
CENPFC1458155Mammary Neoplasms1CTD_human