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Fusion gene ID: 18095 |
FusionGeneSummary for JUND_PHF5A |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: JUND_PHF5A | Fusion gene ID: 18095 | Hgene | Tgene | Gene symbol | JUND | PHF5A | Gene ID | 3727 | 84844 |
| Gene name | JunD proto-oncogene, AP-1 transcription factor subunit | PHD finger protein 5A | |
| Synonyms | AP-1 | INI|Rds3|SAP14b|SF3B7|SF3b14b|bK223H9.2 | |
| Cytomap | 19p13.11 | 22q13.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | transcription factor jun-DJunD-FL isoformactivator protein 1jun D proto-oncogene | PHD finger-like domain-containing protein 5APHD finger-like domain protein 5APHD-finger 5asplicing factor 3B associated 14 kDa proteinsplicing factor 3b, subunit 7 | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | P17535 | Q7RTV0 | |
| Ensembl transtripts involved in fusion gene | ENST00000252818, | ENST00000216252, ENST00000491254, | |
| Fusion gene scores | * DoF score | 4 X 4 X 1=16 | 2 X 2 X 2=8 |
| # samples | 5 | 2 | |
| ** MAII score | log2(5/16*10)=1.64385618977472 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(2/8*10)=1.32192809488736 | |
| Context | PubMed: JUND [Title/Abstract] AND PHF5A [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | |||
| * DoF score (Degree of Frequency) = # partners X # break points X # cancer types ** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10) |
| Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Partner | Gene | GO ID | GO term | PubMed ID |
| Hgene | JUND | GO:0045944 | positive regulation of transcription by RNA polymerase II | 10508860 |
| Tgene | PHF5A | GO:0000398 | mRNA splicing, via spliceosome | 12234937 |
| Fusion gene information from three resources (ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018)) * All genome coordinats were lifted-over on hg19. * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
| Data type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| ChiTaRS3.1 | AI494246 | JUND | chr19 | 18390825 | - | PHF5A | chr22 | 41855898 | - |
| * LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
| Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure. * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
| ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| intron-3UTR | ENST00000252818 | ENST00000216252 | JUND | chr19 | 18390825 | - | PHF5A | chr22 | 41855898 | - |
| intron-intron | ENST00000252818 | ENST00000491254 | JUND | chr19 | 18390825 | - | PHF5A | chr22 | 41855898 | - |
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FusionProtFeatures for JUND_PHF5A |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| JUND | PHF5A |
| Transcription factor binding AP-1 sites.{ECO:0000269|PubMed:9989505}. | Involved with the PAF1 complex (PAF1C) intranscriptional elongation by RNA polymerase II, and in regulationof development and maintenance of embryonic stem cell (ESC)pluripotency. Required for maintenance of ESCs self-renewal andcellular reprogramming of stem cells. Maintains pluripotency byrecruiting and stabilizing PAF1C on pluripotency genes loci, andby regulating the expression of the pluripotency genes. Regulatesthe deposition of elongation-associated histone modifications,including dimethylated histone H3 'Lys-79' (H3K79me2) andtrimethylated histone H3 'Lys-36' (H3K36me3), on PAF1C targets,self-renewal and pluripotency genes. Regulates RNA polymerase IIpromoter-proximal pause release of the PAF1C targets and self-renewal genes, and the levels of elongating ('Ser-2'phosphorylated) RNA polymerase II in their gene bodies. Regulatesmuscle specification in adult stem cells by stabilizing PAF1C inchromatin to promote myogenic differentiation (By similarity).Involved in pre-mRNA splicing as a component of the splicingfactor SF3B complex (PubMed:27720643, PubMed:28541300). SF3Bcomplex is required for 'A' complex assembly formed by the stablebinding of U2 snRNP to the branchpoint sequence (BPS) in pre-mRNA.Sequence independent binding of SF3A/SF3B complex upstream of thebranch site is essential, it may anchor U2 snRNP to the pre-mRNA(PubMed:12234937). Acts as a transcriptional regulator by bindingto the GJA1/Cx43 promoter and enhancing its up-regulation byESR1/ER-alpha (By similarity). {ECO:0000250|UniProtKB:P83870,ECO:0000250|UniProtKB:P83871, ECO:0000269|PubMed:12234937,ECO:0000269|PubMed:27720643, ECO:0000269|PubMed:28541300}. |
| Retention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at . * Minus value of BPloci means that the break pointn is located before the CDS. |
| - In-frame and retained protein feature among the 13 regional features. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
| - In-frame and not-retained protein feature among the 13 regional features. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for JUND_PHF5A |
| For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. (nt: nucleotides, aa: amino acids) |
| * Fusion amino acid sequences. |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| * Fusion transcript sequences (Full-length transcript). |
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FusionGenePPI for JUND_PHF5A |
| Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
| Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
| Hgene | Hgene's interactors | Tgene | Tgene's interactors |
| - Retained PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
| - Retained PPIs, but lost function due to frame-shift fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for JUND_PHF5A |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for JUND_PHF5A |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | JUND | C0017658 | Glomerulonephritis | 1 | CTD_human |
| Hgene | JUND | C0023890 | Liver Cirrhosis | 1 | CTD_human |
| Hgene | JUND | C0038220 | Status Epilepticus | 1 | CTD_human |
| Hgene | JUND | C0236736 | Cocaine-Related Disorders | 1 | CTD_human |
| Hgene | JUND | C1862939 | AMYOTROPHIC LATERAL SCLEROSIS 1 | 1 | CTD_human |
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