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 F9

check button Gene summary
Gene informationGene symbol

F9

Gene ID

2158

Gene namecoagulation factor IX
SynonymsF9 p22|FIX|HEMB|P19|PTC|THPH8
Cytomap

Xq27.1

Type of geneprotein-coding
Descriptioncoagulation factor IXChristmas factorfactor 9factor IX F9plasma thromboplastic componentplasma thromboplastin component
Modification date20180523
UniProtAcc

P00740

ContextPubMed: F9 [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
F9

GO:0006508

proteolysis

20121197

F9

GO:0007596

blood coagulation

2472424|20121197

F9

GO:0031638

zymogen activation

2592373


Top

Exon skipping events across known transcript of Ensembl for F9 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 F9

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 F9

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_512528X138619520:138619545:138623234:138623348:138630521:138630551138623234:138623348ENSG00000101981.6ENST00000218099.2
exon_skip_512530X138619520:138619545:138630521:138630650:138633220:138633406138630521:138630650ENSG00000101981.6ENST00000394090.2
exon_skip_512531X138623245:138623348:138630521:138630650:138633220:138633406138630521:138630650ENSG00000101981.6ENST00000218099.2

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

Top

Exon skipping events with PSIs in GTEx for F9

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_512528X138619520:138619545:138623234:138623348:138630521:138630551138623234:138623348ENSG00000101981.6ENST00000218099.2
exon_skip_512530X138619520:138619545:138630521:138630650:138633220:138633406138630521:138630650ENSG00000101981.6ENST00000394090.2
exon_skip_512531X138623245:138623348:138630521:138630650:138633220:138633406138630521:138630650ENSG00000101981.6ENST00000218099.2

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 F9

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
ENST00000218099138623234138623348In-frame
ENST00000218099138630521138630650In-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
ENST00000218099138623234138623348In-frame
ENST00000218099138630521138630650In-frame

Top

Infer the effects of exon skipping event on protein functional features for F9

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
ENST00000218099279746113862323413862334828539892130
ENST000002180992797461138630521138630650399527130173

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
ENST00000218099279746113862323413862334828539892130
ENST000002180992797461138630521138630650399527130173

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
P007409213093130Alternative sequenceID=VSP_047689;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.6
P0074092130102105Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4WMA
P0074092130107111Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1EDM
P0074092130114118Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1EDM
P007409213047461ChainID=PRO_0000027756;Note=Coagulation factor IX
P007409213047191ChainID=PRO_0000027757;Note=Coagulation factor IXa light chain
P007409213097108Disulfide bondOntology_term=ECO:0000244,ECO:0000244,ECO:0000269,ECO:0000269;evidence=ECO:0000244|PDB:1EDM,ECO:0000244|PDB:1IXA,ECO:0000269|PubMed:1304885,ECO:0000269|PubMed:7606779;Dbxref=PMID:1304885,PMID:7606779
P0074092130102117Disulfide bondOntology_term=ECO:0000244,ECO:0000244,ECO:0000269,ECO:0000269;evidence=ECO:0000244|PDB:1EDM,ECO:0000244|PDB:1IXA,ECO:0000269|PubMed:1304885,ECO:0000269|PubMed:7606779;Dbxref=PMID:1304885,PMID:7606779
P0074092130119128Disulfide bondOntology_term=ECO:0000244,ECO:0000244,ECO:0000269,ECO:0000269;evidence=ECO:0000244|PDB:1EDM,ECO:0000244|PDB:1IXA,ECO:0000269|PubMed:1304885,ECO:0000269|PubMed:7606779;Dbxref=PMID:1304885,PMID:7606779
P00740921304792DomainNote=Gla;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00463
P007409213093129DomainNote=EGF-like 1%3B calcium-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076
P0074092130130171DomainNote=EGF-like 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076
P00740921309999GlycosylationID=CAR_000009;Note=O-linked (Glc...) serine%3B alternate;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:2129367,ECO:0000269|PubMed:21949356,ECO:0000269|PubMed:2511201,ECO:0000269|PubMed:25456591;Dbxref=PMID:21293
P00740921309999GlycosylationNote=O-linked (Xyl...) serine%3B alternate;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:2129367,ECO:0000269|PubMed:21949356,ECO:0000269|PubMed:2511201;Dbxref=PMID:2129367,PMID:21949356,PMID:2511201
P0074092130107107GlycosylationID=CAR_000010;Note=O-linked (Fuc...) serine;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:1517205,ECO:0000269|PubMed:25456591;Dbxref=PMID:1517205,PMID:25456591
P00740921309393Metal bindingNote=Calcium 7;Ontology_term=ECO:0000244,ECO:0000269;evidence=ECO:0000244|PDB:1EDM,ECO:0000269|PubMed:7606779;Dbxref=PMID:7606779
P00740921309494Metal bindingNote=Calcium 7%3B via carbonyl oxygen;Ontology_term=ECO:0000244,ECO:0000269;evidence=ECO:0000244|PDB:1EDM,ECO:0000269|PubMed:7606779;Dbxref=PMID:7606779
P00740921309696Metal bindingNote=Calcium 7;Ontology_term=ECO:0000244,ECO:0000269;evidence=ECO:0000244|PDB:1EDM,ECO:0000269|PubMed:7606779;Dbxref=PMID:7606779
P0074092130110110Metal bindingNote=Calcium 7;Ontology_term=ECO:0000244,ECO:0000269;evidence=ECO:0000244|PDB:1EDM,ECO:0000269|PubMed:7606779;Dbxref=PMID:7606779
P0074092130111111Metal bindingNote=Calcium 7%3B via carbonyl oxygen;Ontology_term=ECO:0000244,ECO:0000269;evidence=ECO:0000244|PDB:1EDM,ECO:0000269|PubMed:7606779;Dbxref=PMID:7606779
P0074092130110110Modified residueNote=(3R)-3-hydroxyaspartate;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:6688526;Dbxref=PMID:6688526
P0074092130114114Modified residueNote=Phosphoserine;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.28
P00740921309393Natural variantID=VAR_006544;Note=In HEMB%3B moderate%3B Alabama. D->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:3790720;Dbxref=dbSNP:rs137852230,PMID:3790720
P00740921309696Natural variantID=VAR_006545;Note=In HEMB%3B severe%3B New London. Q->P;Dbxref=dbSNP:rs137852231
P00740921309797Natural variantID=VAR_006546;Note=In HEMB. C->S
P0074092130101101Natural variantID=VAR_006547;Note=In HEMB. P->R
P0074092130102102Natural variantID=VAR_006548;Note=In HEMB%3B severe%3B Basel. C->R
P0074092130106106Natural variantID=VAR_017346;Note=In HEMB. G->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12588353;Dbxref=PMID:12588353
P0074092130106106Natural variantID=VAR_006549;Note=In HEMB%3B mild%3B Durham. G->S;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:2472424,ECO:0000269|PubMed:9600455;Dbxref=dbSNP:rs137852233,PMID:2472424,PMID:9600455
P0074092130108108Natural variantID=VAR_006550;Note=In HEMB. C->S
P0074092130110110Natural variantID=VAR_006551;Note=In HEMB%3B severe%3B Oxford-D1. D->N;Dbxref=dbSNP:rs137852274
P0074092130112112Natural variantID=VAR_006552;Note=In HEMB. I->S
P0074092130113113Natural variantID=VAR_006553;Note=In HEMB%3B mild. N->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9222764;Dbxref=PMID:9222764
P0074092130115115Natural variantID=VAR_006554;Note=In HEMB%3B severe. Y->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9600455;Dbxref=PMID:9600455
P0074092130119119Natural variantID=VAR_006555;Note=In HEMB%3B severe. C->F
P0074092130119119Natural variantID=VAR_006556;Note=In HEMB%3B Iran. C->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9452115;Dbxref=PMID:9452115
P0074092130124124Natural variantID=VAR_017347;Note=In HEMB. E->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12588353;Dbxref=PMID:12588353
P0074092130125125Natural variantID=VAR_006557;Note=In HEMB. G->E
P0074092130125125Natural variantID=VAR_017348;Note=In HEMB. G->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12604421;Dbxref=PMID:12604421
P0074092130125125Natural variantID=VAR_006558;Note=In HEMB. G->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12604421;Dbxref=PMID:12604421
P0074092130129130Natural variantID=VAR_006559;Note=In HEMB. Missing
P00740921309699TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1EDM
P0074092130125128TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4WMA
P0074013017393130Alternative sequenceID=VSP_047689;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.6
P00740130173142148Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5JB9
P00740130173152156Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5JB9
P00740130173161163Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5JB9
P00740130173165168Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2WPI
P00740130173170172Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5JB9
P0074013017347461ChainID=PRO_0000027756;Note=Coagulation factor IX
P0074013017347191ChainID=PRO_0000027757;Note=Coagulation factor IXa light chain
P00740130173134145Disulfide bondOntology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000244|PDB:1RFN,ECO:0000244|PDB:2WPH,ECO:0000244|PDB:2WPI,E
P00740130173141155Disulfide bondOntology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000244|PDB:1RFN,ECO:0000244|PDB:2WPH,ECO:0000244|PDB:2WPI,E
P00740130173157170Disulfide bondOntology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000244|PDB:1RFN,ECO:0000244|PDB:2WPH,ECO:0000244|PDB:2WPI,E
P00740130173130171DomainNote=EGF-like 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076
P00740130173137140HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5JB9
P00740130173129130Natural variantID=VAR_006559;Note=In HEMB. Missing
P00740130173134134Natural variantID=VAR_017349;Note=In HEMB. C->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12588353;Dbxref=PMID:12588353
P00740130173136136Natural variantID=VAR_006560;Note=In HEMB%3B mild. I->T
P00740130173138138Natural variantID=VAR_073978;Note=In HEMB%3B unknown pathological significance%3B decreased protein abundance%3B decreased function in blood coagulation. N->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25251685;Dbxref=PMID:25251685
P00740130173139139Natural variantID=VAR_006561;Note=In HEMB%3B severe. G->D
P00740130173139139Natural variantID=VAR_006562;Note=In HEMB. G->S
P00740130173155155Natural variantID=VAR_006563;Note=In HEMB%3B severe. C->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9600455;Dbxref=dbSNP:rs1330705989,PMID:9600455
P00740130173160160Natural variantID=VAR_006564;Note=In HEMB%3B mild. G->E
P00740130173167167Natural variantID=VAR_006565;Note=In HEMB%3B mild. Q->H
P00740130173169169Natural variantID=VAR_017350;Note=In HEMB. S->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11122099;Dbxref=PMID:11122099
P00740130173170170Natural variantID=VAR_017351;Note=In HEMB. C->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12604421;Dbxref=PMID:12604421
P00740130173134136TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2WPH
P00740130173149151TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5JB9


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
P007409213093130Alternative sequenceID=VSP_047689;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.6
P0074092130102105Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4WMA
P0074092130107111Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1EDM
P0074092130114118Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1EDM
P007409213047461ChainID=PRO_0000027756;Note=Coagulation factor IX
P007409213047191ChainID=PRO_0000027757;Note=Coagulation factor IXa light chain
P007409213097108Disulfide bondOntology_term=ECO:0000244,ECO:0000244,ECO:0000269,ECO:0000269;evidence=ECO:0000244|PDB:1EDM,ECO:0000244|PDB:1IXA,ECO:0000269|PubMed:1304885,ECO:0000269|PubMed:7606779;Dbxref=PMID:1304885,PMID:7606779
P0074092130102117Disulfide bondOntology_term=ECO:0000244,ECO:0000244,ECO:0000269,ECO:0000269;evidence=ECO:0000244|PDB:1EDM,ECO:0000244|PDB:1IXA,ECO:0000269|PubMed:1304885,ECO:0000269|PubMed:7606779;Dbxref=PMID:1304885,PMID:7606779
P0074092130119128Disulfide bondOntology_term=ECO:0000244,ECO:0000244,ECO:0000269,ECO:0000269;evidence=ECO:0000244|PDB:1EDM,ECO:0000244|PDB:1IXA,ECO:0000269|PubMed:1304885,ECO:0000269|PubMed:7606779;Dbxref=PMID:1304885,PMID:7606779
P00740921304792DomainNote=Gla;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00463
P007409213093129DomainNote=EGF-like 1%3B calcium-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076
P0074092130130171DomainNote=EGF-like 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076
P00740921309999GlycosylationID=CAR_000009;Note=O-linked (Glc...) serine%3B alternate;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:2129367,ECO:0000269|PubMed:21949356,ECO:0000269|PubMed:2511201,ECO:0000269|PubMed:25456591;Dbxref=PMID:21293
P00740921309999GlycosylationNote=O-linked (Xyl...) serine%3B alternate;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:2129367,ECO:0000269|PubMed:21949356,ECO:0000269|PubMed:2511201;Dbxref=PMID:2129367,PMID:21949356,PMID:2511201
P0074092130107107GlycosylationID=CAR_000010;Note=O-linked (Fuc...) serine;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:1517205,ECO:0000269|PubMed:25456591;Dbxref=PMID:1517205,PMID:25456591
P00740921309393Metal bindingNote=Calcium 7;Ontology_term=ECO:0000244,ECO:0000269;evidence=ECO:0000244|PDB:1EDM,ECO:0000269|PubMed:7606779;Dbxref=PMID:7606779
P00740921309494Metal bindingNote=Calcium 7%3B via carbonyl oxygen;Ontology_term=ECO:0000244,ECO:0000269;evidence=ECO:0000244|PDB:1EDM,ECO:0000269|PubMed:7606779;Dbxref=PMID:7606779
P00740921309696Metal bindingNote=Calcium 7;Ontology_term=ECO:0000244,ECO:0000269;evidence=ECO:0000244|PDB:1EDM,ECO:0000269|PubMed:7606779;Dbxref=PMID:7606779
P0074092130110110Metal bindingNote=Calcium 7;Ontology_term=ECO:0000244,ECO:0000269;evidence=ECO:0000244|PDB:1EDM,ECO:0000269|PubMed:7606779;Dbxref=PMID:7606779
P0074092130111111Metal bindingNote=Calcium 7%3B via carbonyl oxygen;Ontology_term=ECO:0000244,ECO:0000269;evidence=ECO:0000244|PDB:1EDM,ECO:0000269|PubMed:7606779;Dbxref=PMID:7606779
P0074092130110110Modified residueNote=(3R)-3-hydroxyaspartate;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:6688526;Dbxref=PMID:6688526
P0074092130114114Modified residueNote=Phosphoserine;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.28
P00740921309393Natural variantID=VAR_006544;Note=In HEMB%3B moderate%3B Alabama. D->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:3790720;Dbxref=dbSNP:rs137852230,PMID:3790720
P00740921309696Natural variantID=VAR_006545;Note=In HEMB%3B severe%3B New London. Q->P;Dbxref=dbSNP:rs137852231
P00740921309797Natural variantID=VAR_006546;Note=In HEMB. C->S
P0074092130101101Natural variantID=VAR_006547;Note=In HEMB. P->R
P0074092130102102Natural variantID=VAR_006548;Note=In HEMB%3B severe%3B Basel. C->R
P0074092130106106Natural variantID=VAR_017346;Note=In HEMB. G->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12588353;Dbxref=PMID:12588353
P0074092130106106Natural variantID=VAR_006549;Note=In HEMB%3B mild%3B Durham. G->S;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:2472424,ECO:0000269|PubMed:9600455;Dbxref=dbSNP:rs137852233,PMID:2472424,PMID:9600455
P0074092130108108Natural variantID=VAR_006550;Note=In HEMB. C->S
P0074092130110110Natural variantID=VAR_006551;Note=In HEMB%3B severe%3B Oxford-D1. D->N;Dbxref=dbSNP:rs137852274
P0074092130112112Natural variantID=VAR_006552;Note=In HEMB. I->S
P0074092130113113Natural variantID=VAR_006553;Note=In HEMB%3B mild. N->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9222764;Dbxref=PMID:9222764
P0074092130115115Natural variantID=VAR_006554;Note=In HEMB%3B severe. Y->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9600455;Dbxref=PMID:9600455
P0074092130119119Natural variantID=VAR_006555;Note=In HEMB%3B severe. C->F
P0074092130119119Natural variantID=VAR_006556;Note=In HEMB%3B Iran. C->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9452115;Dbxref=PMID:9452115
P0074092130124124Natural variantID=VAR_017347;Note=In HEMB. E->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12588353;Dbxref=PMID:12588353
P0074092130125125Natural variantID=VAR_006557;Note=In HEMB. G->E
P0074092130125125Natural variantID=VAR_017348;Note=In HEMB. G->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12604421;Dbxref=PMID:12604421
P0074092130125125Natural variantID=VAR_006558;Note=In HEMB. G->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12604421;Dbxref=PMID:12604421
P0074092130129130Natural variantID=VAR_006559;Note=In HEMB. Missing
P00740921309699TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1EDM
P0074092130125128TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4WMA
P0074013017393130Alternative sequenceID=VSP_047689;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.6
P00740130173142148Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5JB9
P00740130173152156Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5JB9
P00740130173161163Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5JB9
P00740130173165168Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2WPI
P00740130173170172Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5JB9
P0074013017347461ChainID=PRO_0000027756;Note=Coagulation factor IX
P0074013017347191ChainID=PRO_0000027757;Note=Coagulation factor IXa light chain
P00740130173134145Disulfide bondOntology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000244|PDB:1RFN,ECO:0000244|PDB:2WPH,ECO:0000244|PDB:2WPI,E
P00740130173141155Disulfide bondOntology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000244|PDB:1RFN,ECO:0000244|PDB:2WPH,ECO:0000244|PDB:2WPI,E
P00740130173157170Disulfide bondOntology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000244|PDB:1RFN,ECO:0000244|PDB:2WPH,ECO:0000244|PDB:2WPI,E
P00740130173130171DomainNote=EGF-like 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076
P00740130173137140HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5JB9
P00740130173129130Natural variantID=VAR_006559;Note=In HEMB. Missing
P00740130173134134Natural variantID=VAR_017349;Note=In HEMB. C->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12588353;Dbxref=PMID:12588353
P00740130173136136Natural variantID=VAR_006560;Note=In HEMB%3B mild. I->T
P00740130173138138Natural variantID=VAR_073978;Note=In HEMB%3B unknown pathological significance%3B decreased protein abundance%3B decreased function in blood coagulation. N->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25251685;Dbxref=PMID:25251685
P00740130173139139Natural variantID=VAR_006561;Note=In HEMB%3B severe. G->D
P00740130173139139Natural variantID=VAR_006562;Note=In HEMB. G->S
P00740130173155155Natural variantID=VAR_006563;Note=In HEMB%3B severe. C->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9600455;Dbxref=dbSNP:rs1330705989,PMID:9600455
P00740130173160160Natural variantID=VAR_006564;Note=In HEMB%3B mild. G->E
P00740130173167167Natural variantID=VAR_006565;Note=In HEMB%3B mild. Q->H
P00740130173169169Natural variantID=VAR_017350;Note=In HEMB. S->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11122099;Dbxref=PMID:11122099
P00740130173170170Natural variantID=VAR_017351;Note=In HEMB. C->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12604421;Dbxref=PMID:12604421
P00740130173134136TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2WPH
P00740130173149151TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5JB9


Top

SNVs in the skipped exons for F9

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.

check button - Non-synonymous mutations located in the skipped exons in TCGA.
Cancer typeSampleESIDSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
LIHCTCGA-G3-A3CJ-01exon_skip_512531
exon_skip_512530
138630522138630650138630560138630560Frame_Shift_DelT-p.F144fs
LIHCTCGA-DD-A1EG-01exon_skip_512531
exon_skip_512530
138630522138630650138630566138630566Frame_Shift_DelA-p.K146fs
SKCMTCGA-EE-A3AH-06exon_skip_512531
exon_skip_512530
138630522138630650138630614138630614Nonsense_MutationCTp.R162*
SKCMTCGA-EE-A3AH-06exon_skip_512531
exon_skip_512530
138630522138630650138630614138630614Nonsense_MutationCTp.R162X
UCSTCGA-N9-A4Q7-01exon_skip_512531
exon_skip_512530
138630522138630650138630629138630629Nonsense_MutationCTp.Q167*
UCSTCGA-N9-A4Q7-01exon_skip_512531
exon_skip_512530
138630522138630650138630629138630629Nonsense_MutationCTp.Q167X

check button - Depth of coverage in the three exons composing exon skipping event
Depth of coverage in three exonsMutation description
F9_138619520_138619545_138630521_138630650_138633220_138633406_TCGA-DD-A1EG-01Sample: TCGA-DD-A1EG-01
Cancer type: LIHC
ESID: exon_skip_512530
Skipped exon start: 138630522
Skipped exon end: 138630650
Mutation start: 138630566
Mutation end: 138630566
Mutation type: Frame_Shift_Del
Reference seq: A
Mutation seq: -
AAchange: p.K146fs
exon_skip_103075_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_100809_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_101656_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_10700_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_109033_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_110000_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_110381_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_110545_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_11218_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_11256_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_11259_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_11263_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_115462_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_115587_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_116330_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_121002_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_123667_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_12440_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_125045_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_129202_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_129996_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_130099_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_13071_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_131505_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_131697_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_133542_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_133548_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_134792_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_135418_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_135741_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_135763_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_135820_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_13608_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_138255_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_138373_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_138947_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_140996_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_141914_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_143553_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_143841_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_143843_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_144075_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_144116_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_144125_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_146762_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_146776_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_146807_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_14772_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_148738_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_148740_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_14897_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_14899_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_15042_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_150985_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_153494_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_155021_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_16928_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_17317_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_17318_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_17943_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_18708_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_19048_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_1906_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_19372_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_19902_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_20061_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_22876_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_2523_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_26461_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_27038_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_27065_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_283878_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_284109_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_288112_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_290222_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_290223_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_29032_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_290_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_291361_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_291973_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_29487_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_295443_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_297892_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_299242_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_30164_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_30165_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_302094_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_302095_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_302097_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_302181_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_305812_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_305815_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_3064_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_307291_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_307292_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_30744_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_307494_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_307495_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_30789_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_30792_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_308209_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_308211_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_308911_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_309060_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_309486_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_309505_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_309539_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_311823_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_311841_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_312748_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_315763_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_315773_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_316803_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_31766_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_318224_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_318551_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_318554_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_318555_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_319623_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_319638_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_32002_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_320793_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_320801LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_320805_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_320820_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_320893_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_323233_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_324148_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_325050_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_325907_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_325909_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_326432_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_329221_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_329666_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_330008_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_331787_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_33329_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_33532_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_335990_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_33963_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_340419_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_340619_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_34100_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_34102_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_343034_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_343146_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_344918_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_346537_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_346953_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_347402_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_348700_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_349878_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_350522_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_350768_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_350771_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_352623_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_352668_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_354857_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_356483_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_357567_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_357575_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_357579_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_358435_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_359435_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_359489_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_361242_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_363472_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_364099_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_364103_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_364697_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_364943_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_368204_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_371454_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_371456_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_373849_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_37497_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_375393_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_376191_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_376308_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_376316_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_377238_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_378935_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_379213_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_380574_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_380826_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_380829_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_381100_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_382085_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_382430_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_383797_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_384120_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_384513_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_384562_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_385178_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_385335_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_386274_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_386965_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_387419_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_38855_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_390081_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_3924_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_40143_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_421134_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_421552_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_422397_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_422548_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_423021_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_426236_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_426699_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_427391_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_427930_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_429469_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_430601_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_430604_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_430616_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_431557_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_433436_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_433459_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_434665_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_435300_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_435301_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_435931_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_436646_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_436987_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_438105_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_438770_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_43999_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_440168_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_440170_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_441705_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_443104_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_443977_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_443978_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_444190_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_444765_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_445559_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_446492_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_446495_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_449536_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_449592_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_4499_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_450058_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_450540_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_451867_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_456736_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_457729_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_457730_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_457842_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_459148_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_462138_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_466984_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_467199_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_467371_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_467372_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_46817_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_471387_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_471458_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_472013_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_472955_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_473416_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_475734_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_476238_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_476392_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_476535_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_478361_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_47845_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_483792_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_483806_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_484511_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_486903_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_486908_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_487634_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_48914_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_489575_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_489706_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_490514_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_492073_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_494000_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_495598_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_495600_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_497719_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_498628_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_498631_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_499018_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_501551_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_503330_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_503777_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_504288_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_5044_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_506320_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_507513_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_508970_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_510119_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_512244_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_512530_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_513207_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_513240_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_514990_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_516934_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_517296_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_517308_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_52417_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_54123_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_54476_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_56470_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_57633_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_57892_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_57897_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_58035_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_5818_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_58444_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_58894_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_59424_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_59476_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_59654_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_60187_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_60189_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_62322_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_63747_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_66185_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_66376_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_66813_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_67402_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_67594_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_67918_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_68288_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_68407_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_68411_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_68522_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_68768_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_69056_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_70050_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_71400_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_77097_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_79815_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_81531_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_81532_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_822_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_82890_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_84090_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_86135_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_87721_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_87_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_93888_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_93891_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_94866_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_96939_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_9694_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_97667_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_98055_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_98056_LIHC_TCGA-DD-A1EG-01.png
boxplot
exon_skip_99140_LIHC_TCGA-DD-A1EG-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
SW684_SOFT_TISSUE138623235138623348138623330138623330Missense_MutationGAp.G125R
NCIH510_LUNG138630522138630650138630528138630528Missense_MutationCTp.T133I
BFTC909_KIDNEY138630522138630650138630541138630541Missense_MutationGCp.K137N
NCIH2126_LUNG138630522138630650138630596138630596Missense_MutationTAp.S156T
MCC13_SKIN138623235138623348138623243138623243Nonsense_MutationCTp.Q96*

Top

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for F9

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 F9


Top

Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for F9


Top

RelatedDrugs for F9

check button Approved drugs targeting this gene.
(DrugBank Version 5.1.0 2018-04-02)
GeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
P00740DB13192Antihemophilic factor humanCoagulation factor IX {ECO:0000303|PubMed:3857619}biotechapproved
P00740DB00025Antihemophilic factor, human recombinantCoagulation factor IX {ECO:0000303|PubMed:3857619}biotechapproved|investigational
P00740DB13923EmicizumabCoagulation factor IX {ECO:0000303|PubMed:3857619}biotechapproved|investigational
P00740DB00170MenadioneCoagulation factor IX {ECO:0000303|PubMed:3857619}small moleculeapproved|nutraceutical

Top

RelatedDiseases for F9

check button Diseases associated with this gene.
(DisGeNet 4.0)
GeneDisease IDDisease name# pubmedsSource
F9C0008533Hemophilia B37CTD_human;UNIPROT
F9C0005586Bipolar Disorder4PSYGENET
F9C0019069Hemophilia A1CTD_human
F9C0040053Thrombosis1CTD_human
F9C0345967Malignant mesothelioma1CTD_human
F9C2749016Thrombophilia, X-Linked, Due To Factor Ix Defect1CTD_human;UNIPROT