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Fusion gene ID: 35920 |
FusionGeneSummary for SRCIN1_PCGF2 |
Fusion gene summary |
Fusion gene information | Fusion gene name: SRCIN1_PCGF2 | Fusion gene ID: 35920 | Hgene | Tgene | Gene symbol | SRCIN1 | PCGF2 | Gene ID | 80725 | 7703 |
Gene name | SRC kinase signaling inhibitor 1 | polycomb group ring finger 2 | |
Synonyms | P140|SNIP | MEL-18|RNF110|ZNF144 | |
Cytomap | 17q12 | 17q12 | |
Type of gene | protein-coding | protein-coding | |
Description | SRC kinase signaling inhibitor 1P130Cas-associated proteinSNAP-25-interacting proteinSNAP25-interacting proteinp140Cap | polycomb group RING finger protein 2DNA-binding protein Mel-18ring finger protein 110zinc finger protein 144 | |
Modification date | 20180519 | 20180523 | |
UniProtAcc | Q9C0H9 | P35227 | |
Ensembl transtripts involved in fusion gene | ENST00000264659, ENST00000578925, ENST00000398579, | ENST00000360797, ENST00000580830, ENST00000581345, ENST00000579882, ENST00000585100, ENST00000578109, | |
Fusion gene scores | * DoF score | 8 X 7 X 5=280 | 3 X 3 X 2=18 |
# samples | 6 | 3 | |
** MAII score | log2(6/280*10)=-2.22239242133645 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
Context | PubMed: SRCIN1 [Title/Abstract] AND PCGF2 [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 | SRCIN1 | GO:0061098 | positive regulation of protein tyrosine kinase activity | 17525734 |
Hgene | SRCIN1 | GO:0061099 | negative regulation of protein tyrosine kinase activity | 17525734 |
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 |
TCGA | RV | UCEC | TCGA-SL-A6J9-01A | SRCIN1 | chr17 | 36707391 | - | PCGF2 | chr17 | 36896695 | - |
* 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 |
5CDS-5UTR | ENST00000264659 | ENST00000360797 | SRCIN1 | chr17 | 36707391 | - | PCGF2 | chr17 | 36896695 | - |
5CDS-5UTR | ENST00000264659 | ENST00000580830 | SRCIN1 | chr17 | 36707391 | - | PCGF2 | chr17 | 36896695 | - |
5CDS-5UTR | ENST00000264659 | ENST00000581345 | SRCIN1 | chr17 | 36707391 | - | PCGF2 | chr17 | 36896695 | - |
5CDS-5UTR | ENST00000264659 | ENST00000579882 | SRCIN1 | chr17 | 36707391 | - | PCGF2 | chr17 | 36896695 | - |
5CDS-5UTR | ENST00000264659 | ENST00000585100 | SRCIN1 | chr17 | 36707391 | - | PCGF2 | chr17 | 36896695 | - |
5CDS-intron | ENST00000264659 | ENST00000578109 | SRCIN1 | chr17 | 36707391 | - | PCGF2 | chr17 | 36896695 | - |
5CDS-5UTR | ENST00000578925 | ENST00000360797 | SRCIN1 | chr17 | 36707391 | - | PCGF2 | chr17 | 36896695 | - |
5CDS-5UTR | ENST00000578925 | ENST00000580830 | SRCIN1 | chr17 | 36707391 | - | PCGF2 | chr17 | 36896695 | - |
5CDS-5UTR | ENST00000578925 | ENST00000581345 | SRCIN1 | chr17 | 36707391 | - | PCGF2 | chr17 | 36896695 | - |
5CDS-5UTR | ENST00000578925 | ENST00000579882 | SRCIN1 | chr17 | 36707391 | - | PCGF2 | chr17 | 36896695 | - |
5CDS-5UTR | ENST00000578925 | ENST00000585100 | SRCIN1 | chr17 | 36707391 | - | PCGF2 | chr17 | 36896695 | - |
5CDS-intron | ENST00000578925 | ENST00000578109 | SRCIN1 | chr17 | 36707391 | - | PCGF2 | chr17 | 36896695 | - |
5UTR-5UTR | ENST00000398579 | ENST00000360797 | SRCIN1 | chr17 | 36707391 | - | PCGF2 | chr17 | 36896695 | - |
5UTR-5UTR | ENST00000398579 | ENST00000580830 | SRCIN1 | chr17 | 36707391 | - | PCGF2 | chr17 | 36896695 | - |
5UTR-5UTR | ENST00000398579 | ENST00000581345 | SRCIN1 | chr17 | 36707391 | - | PCGF2 | chr17 | 36896695 | - |
5UTR-5UTR | ENST00000398579 | ENST00000579882 | SRCIN1 | chr17 | 36707391 | - | PCGF2 | chr17 | 36896695 | - |
5UTR-5UTR | ENST00000398579 | ENST00000585100 | SRCIN1 | chr17 | 36707391 | - | PCGF2 | chr17 | 36896695 | - |
5UTR-intron | ENST00000398579 | ENST00000578109 | SRCIN1 | chr17 | 36707391 | - | PCGF2 | chr17 | 36896695 | - |
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FusionProtFeatures for SRCIN1_PCGF2 |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
SRCIN1 | PCGF2 |
Acts as a negative regulator of SRC by activating CSKwhich inhibits SRC activity and downstream signaling, leading toimpaired cell spreading and migration. Regulates dendritic spinemorphology. Involved in calcium-dependent exocytosis. May play arole in neurotransmitter release or synapse maintenance.{ECO:0000269|PubMed:14657239, ECO:0000269|PubMed:17525734,ECO:0000269|PubMed:19146815}. | Transcriptional repressor. Binds specifically to the DNAsequence 5'-GACTNGACT-3'. Has tumor suppressor activity. May playa role in control of cell proliferation and/or neural celldevelopment. Regulates proliferation of early T progenitor cellsby maintaining expression of HES1. Also plays a role in antero-posterior specification of the axial skeleton and negativeregulation of the self-renewal activity of hematopoietic stemcells (By similarity). Component of a Polycomb group (PcG)multiprotein PRC1-like complex, a complex class required tomaintain the transcriptionally repressive state of many genes,including Hox genes, throughout development. PcG PRC1 complex actsvia chromatin remodeling and modification of histones; it mediatesmonoubiquitination of histone H2A 'Lys-119', rendering chromatinheritably changed in its expressibility (PubMed:26151332). Withinthe PRC1-like complex, regulates RNF2 ubiquitin ligase activity(PubMed:26151332). {ECO:0000250|UniProtKB:P23798,ECO:0000269|PubMed:26151332}. |
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 SRCIN1_PCGF2 |
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 SRCIN1_PCGF2 |
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 |
SRCIN1 | BCAR1, CRK, SNAP25, SRC, CSK, SORBS3, SYP, NUFIP1, BCAS4, CKAP5, CDH1 | PCGF2 | RING1, CBX8, RNF2, UBE2E2, UBE2Q2, UBE2T, UBE2U, PHC1, PHC3, PHC2, CBX4, CBX2, CBX7, HOXC9, SPDEF, USP7, USP11, ELAVL1, RYBP, YAF2, SCMH1, SCML1, HSF2, HSF1, UBE2I, RANGAP1, LMNA, CCND2, LMNB1, TMPO, EMD, PCGF2, EGF, PCBP1, HIF1A, VHL, CBX6, YY1, RBCK1, CTNNAL1, CD247, GJB5, ABHD6, EED, UBE2D3, BCOR, NANOG, BMI1, BCORL1, KLHL25, TPM2, NFS1, GOPC, PDP1, LTV1, LANCL2, ENDOG |
- 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 SRCIN1_PCGF2 |
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 SRCIN1_PCGF2 |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |