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Fusion gene ID: 35944 |
FusionGeneSummary for SREBF2_CPSF3 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: SREBF2_CPSF3 | Fusion gene ID: 35944 | Hgene | Tgene | Gene symbol | SREBF2 | CPSF3 | Gene ID | 6721 | 51692 |
| Gene name | sterol regulatory element binding transcription factor 2 | cleavage and polyadenylation specific factor 3 | |
| Synonyms | SREBP-2|SREBP2|bHLHd2 | CPSF-73|CPSF73 | |
| Cytomap | 22q13.2 | 2p25.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | sterol regulatory element-binding protein 2class D basic helix-loop-helix protein 2 | cleavage and polyadenylation specificity factor subunit 3cleavage and polyadenylation specific factor 3, 73kDamRNA 3'-end-processing endonuclease CPSF-73 | |
| Modification date | 20180522 | 20180523 | |
| UniProtAcc | Q12772 | Q9UKF6 | |
| Ensembl transtripts involved in fusion gene | ENST00000361204, ENST00000491541, | ENST00000238112, ENST00000460593, ENST00000489403, | |
| Fusion gene scores | * DoF score | 19 X 18 X 5=1710 | 4 X 4 X 2=32 |
| # samples | 21 | 5 | |
| ** MAII score | log2(21/1710*10)=-3.02553509210714 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(5/32*10)=0.643856189774725 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: SREBF2 [Title/Abstract] AND CPSF3 [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 | SREBF2 | GO:0000122 | negative regulation of transcription by RNA polymerase II | 15358760|19098903 |
| Hgene | SREBF2 | GO:0010886 | positive regulation of cholesterol storage | 15358760 |
| Hgene | SREBF2 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 12242332|12446768 |
| Hgene | SREBF2 | GO:0072368 | regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter | 15358760 |
| Hgene | SREBF2 | GO:0090370 | negative regulation of cholesterol efflux | 15358760 |
| Tgene | CPSF3 | GO:0006398 | mRNA 3'-end processing by stem-loop binding and cleavage | 18688255 |
| 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 | BF312808 | SREBF2 | chr22 | 42298986 | - | CPSF3 | chr2 | 9608103 | - | ||
| ChiTaRS3.1 | BI196066 | SREBF2 | chr22 | 42298986 | - | CPSF3 | chr2 | 9608103 | - |
| * 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-intron | ENST00000361204 | ENST00000238112 | SREBF2 | chr22 | 42298986 | - | CPSF3 | chr2 | 9608103 | - |
| 5CDS-intron | ENST00000361204 | ENST00000460593 | SREBF2 | chr22 | 42298986 | - | CPSF3 | chr2 | 9608103 | - |
| 5CDS-intron | ENST00000361204 | ENST00000489403 | SREBF2 | chr22 | 42298986 | - | CPSF3 | chr2 | 9608103 | - |
| 3UTR-intron | ENST00000491541 | ENST00000238112 | SREBF2 | chr22 | 42298986 | - | CPSF3 | chr2 | 9608103 | - |
| 3UTR-intron | ENST00000491541 | ENST00000460593 | SREBF2 | chr22 | 42298986 | - | CPSF3 | chr2 | 9608103 | - |
| 3UTR-intron | ENST00000491541 | ENST00000489403 | SREBF2 | chr22 | 42298986 | - | CPSF3 | chr2 | 9608103 | - |
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FusionProtFeatures for SREBF2_CPSF3 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| SREBF2 | CPSF3 |
| Transcriptional activator required for lipidhomeostasis. Regulates transcription of the LDL receptor gene aswell as the cholesterol and to a lesser degree the fatty acidsynthesis pathway (By similarity). Binds the sterol regulatoryelement 1 (SRE-1) (5'-ATCACCCCAC-3') found in the flanking regionof the LDRL and HMG-CoA synthase genes. {ECO:0000250}. | Component of the cleavage and polyadenylationspecificity factor (CPSF) complex that play a key role in pre-mRNA3'-end formation, recognizing the AAUAAA signal sequence andinteracting with poly(A) polymerase and other factors to bringabout cleavage and poly(A) addition. Has endonuclease activity,and functions as mRNA 3'-end-processing endonuclease. Alsoinvolved in the histone 3'-end pre-mRNA processing. U7 snRNP-dependent protein that induces both the 3'-endoribonucleolyticcleavage of histone pre-mRNAs and acts as a 5' to 3' exonucleasefor degrading the subsequent downstream cleavage product (DCP) ofmature histone mRNAs. Cleavage occurs after the 5'-ACCCA-3'sequence in the histone pre-mRNA leaving a 3'hydroxyl group on theupstream fragment containing the stem loop (SL) and 5' phosphateon the downstream cleavage product (DCP) starting with CUnucleotides. The U7-dependent 5' to 3' exonuclease activity isprocessive and degrades the DCP RNA substrate even after completeremoval of the U7-binding site. Binds to the downstream cleavageproduct (DCP) of histone pre-mRNAs and the cleaved DCP RNAsubstrate in a U7 snRNP dependent manner.{ECO:0000269|PubMed:14749727, ECO:0000269|PubMed:15037765,ECO:0000269|PubMed:17128255, ECO:0000269|PubMed:18688255}. |
| 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 SREBF2_CPSF3 |
| 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 SREBF2_CPSF3 |
| 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 SREBF2_CPSF3 |
| 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 SREBF2_CPSF3 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | SREBF2 | C0021655 | Insulin Resistance | 1 | CTD_human |
| Hgene | SREBF2 | C0022661 | Kidney Failure, Chronic | 1 | CTD_human |
| Hgene | SREBF2 | C0036341 | Schizophrenia | 1 | PSYGENET |
| Hgene | SREBF2 | C0038356 | Stomach Neoplasms | 1 | CTD_human |
| Hgene | SREBF2 | C2239176 | Liver carcinoma | 1 | CTD_human |
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