|
||||||
|
 | |
| |
| |
| |
| |
|
Fusion gene ID: 12103 |
FusionGeneSummary for ESRP1_INTS8 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ESRP1_INTS8 | Fusion gene ID: 12103 | Hgene | Tgene | Gene symbol | ESRP1 | INTS8 | Gene ID | 54845 | 55656 |
| Gene name | epithelial splicing regulatory protein 1 | integrator complex subunit 8 | |
| Synonyms | RBM35A|RMB35A | C8orf52|INT8 | |
| Cytomap | 8q22.1 | 8q22.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | epithelial splicing regulatory protein 1RNA-binding motif protein 35ARNA-binding protein 35A | integrator complex subunit 8protein kaonashi-1 | |
| Modification date | 20180519 | 20180522 | |
| UniProtAcc | Q6NXG1 | Q75QN2 | |
| Ensembl transtripts involved in fusion gene | ENST00000423620, ENST00000433389, ENST00000358397, ENST00000454170, ENST00000523347, | ENST00000523731, ENST00000447247, ENST00000520845, | |
| Fusion gene scores | * DoF score | 3 X 3 X 2=18 | 3 X 3 X 3=27 |
| # samples | 3 | 3 | |
| ** MAII score | log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(3/27*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: ESRP1 [Title/Abstract] AND INTS8 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | Tumor suppressor gene involved fusion gene, in-frame but not retained their domain. Tumor suppressor gene involved fusion gene, retained protein feature but frameshift. DDR (DNA damage repair) gene involved fusion gene, in-frame but not retained their domain. | ||
| * 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 | ESRP1 | GO:0043484 | regulation of RNA splicing | 19285943 |
| Tgene | INTS8 | GO:0016180 | snRNA processing | 16239144 |
| 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 | LD | BRCA | TCGA-BH-A18V-01A | ESRP1 | chr8 | 95718262 | + | INTS8 | chr8 | 95862169 | + |
| * 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 |
| 3UTR-3CDS | ENST00000423620 | ENST00000523731 | ESRP1 | chr8 | 95718262 | + | INTS8 | chr8 | 95862169 | + |
| 3UTR-3CDS | ENST00000423620 | ENST00000447247 | ESRP1 | chr8 | 95718262 | + | INTS8 | chr8 | 95862169 | + |
| 3UTR-intron | ENST00000423620 | ENST00000520845 | ESRP1 | chr8 | 95718262 | + | INTS8 | chr8 | 95862169 | + |
| 3UTR-3CDS | ENST00000433389 | ENST00000523731 | ESRP1 | chr8 | 95718262 | + | INTS8 | chr8 | 95862169 | + |
| 3UTR-3CDS | ENST00000433389 | ENST00000447247 | ESRP1 | chr8 | 95718262 | + | INTS8 | chr8 | 95862169 | + |
| 3UTR-intron | ENST00000433389 | ENST00000520845 | ESRP1 | chr8 | 95718262 | + | INTS8 | chr8 | 95862169 | + |
| 3UTR-3CDS | ENST00000358397 | ENST00000523731 | ESRP1 | chr8 | 95718262 | + | INTS8 | chr8 | 95862169 | + |
| 3UTR-3CDS | ENST00000358397 | ENST00000447247 | ESRP1 | chr8 | 95718262 | + | INTS8 | chr8 | 95862169 | + |
| 3UTR-intron | ENST00000358397 | ENST00000520845 | ESRP1 | chr8 | 95718262 | + | INTS8 | chr8 | 95862169 | + |
| 3UTR-3CDS | ENST00000454170 | ENST00000523731 | ESRP1 | chr8 | 95718262 | + | INTS8 | chr8 | 95862169 | + |
| 3UTR-3CDS | ENST00000454170 | ENST00000447247 | ESRP1 | chr8 | 95718262 | + | INTS8 | chr8 | 95862169 | + |
| 3UTR-intron | ENST00000454170 | ENST00000520845 | ESRP1 | chr8 | 95718262 | + | INTS8 | chr8 | 95862169 | + |
| 3UTR-3CDS | ENST00000523347 | ENST00000523731 | ESRP1 | chr8 | 95718262 | + | INTS8 | chr8 | 95862169 | + |
| 3UTR-3CDS | ENST00000523347 | ENST00000447247 | ESRP1 | chr8 | 95718262 | + | INTS8 | chr8 | 95862169 | + |
| 3UTR-intron | ENST00000523347 | ENST00000520845 | ESRP1 | chr8 | 95718262 | + | INTS8 | chr8 | 95862169 | + |
Top |
FusionProtFeatures for ESRP1_INTS8 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ESRP1 | INTS8 |
| mRNA splicing factor that regulates the formation ofepithelial cell-specific isoforms. Specifically regulates theexpression of FGFR2-IIIb, an epithelial cell-specific isoform ofFGFR2. Also regulates the splicing of CD44, CTNND1, ENAH, 3transcripts that undergo changes in splicing during theepithelial-to-mesenchymal transition (EMT). Acts by directlybinding specific sequences in mRNAs. Binds the GU-rich sequencemotifs in the ISE/ISS-3, a cis-element regulatory region presentin the mRNA of FGFR2. {ECO:0000269|PubMed:19285943}. | Component of the Integrator complex, a complex involvedin the small nuclear RNAs (snRNA) U1 and U2 transcription and intheir 3'-box-dependent processing. The Integrator complex isassociated with the C-terminal domain (CTD) of RNA polymerase IIlargest subunit (POLR2A) and is recruited to the U1 and U2 snRNAsgenes. |
| 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 |
Top |
FusionGeneSequence for ESRP1_INTS8 |
| 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). |
Top |
FusionGenePPI for ESRP1_INTS8 |
| 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 |
| ESRP1 | ATXN1, RNF2, BMI1, RNF111, RGPD8, RGPD5, RBPMS, RGPD3, RBPMS2, ATXN2, THUMPD3, ZNF703, HELZ, ELAVL2, GPATCH8 | INTS8 | INTS1, INTS3, INTS5, INTS6, SHFM1, INTS10, CTDP1, INTS2, INTS7, C7orf26, CDC5L, LAMP3, C1orf85, VCAM1 |
| - 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 |
Top |
RelatedDrugs for ESRP1_INTS8 |
| 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 |
Top |
RelatedDiseases for ESRP1_INTS8 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|