|
||||||
|
 | |
| |
| |
| |
| |
|
Fusion gene ID: 33121 |
FusionGeneSummary for SEL1L_SERTAD2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: SEL1L_SERTAD2 | Fusion gene ID: 33121 | Hgene | Tgene | Gene symbol | SEL1L | SERTAD2 | Gene ID | 6400 | 9792 |
| Gene name | SEL1L, ERAD E3 ligase adaptor subunit | SERTA domain containing 2 | |
| Synonyms | PRO1063|SEL1-LIKE|SEL1L1 | Sei-2|TRIP-Br2|TRIPBR2 | |
| Cytomap | 14q31.1 | 2p14 | |
| Type of gene | protein-coding | protein-coding | |
| Description | protein sel-1 homolog 1Suppressor of lin 12 (sel-1), C. elegans, homolog ofsel-1 suppressor of lin-12-like 1suppressor of lin-12-like protein 1 | SERTA domain-containing protein 2transcriptional regulator interacting with the PHD-bromodomain 2transcriptional regulator interacting with the PHS-bromodomain 2 | |
| Modification date | 20180519 | 20180519 | |
| UniProtAcc | Q9UBV2 | Q14140 | |
| Ensembl transtripts involved in fusion gene | ENST00000336735, ENST00000555824, | ENST00000313349, ENST00000476805, | |
| Fusion gene scores | * DoF score | 6 X 6 X 5=180 | 4 X 1 X 4=16 |
| # samples | 6 | 4 | |
| ** MAII score | log2(6/180*10)=-1.58496250072116 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(4/16*10)=1.32192809488736 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: SEL1L [Title/Abstract] AND SERTAD2 [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 |
| Tgene | SERTAD2 | GO:0030308 | negative regulation of cell growth | 16098148 |
| 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 | LUAD | TCGA-67-6217-01A | SEL1L | chr14 | 81993077 | - | SERTAD2 | chr2 | 64864009 | - |
| * 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 | ENST00000336735 | ENST00000313349 | SEL1L | chr14 | 81993077 | - | SERTAD2 | chr2 | 64864009 | - |
| 5CDS-5UTR | ENST00000336735 | ENST00000476805 | SEL1L | chr14 | 81993077 | - | SERTAD2 | chr2 | 64864009 | - |
| 5CDS-5UTR | ENST00000555824 | ENST00000313349 | SEL1L | chr14 | 81993077 | - | SERTAD2 | chr2 | 64864009 | - |
| 5CDS-5UTR | ENST00000555824 | ENST00000476805 | SEL1L | chr14 | 81993077 | - | SERTAD2 | chr2 | 64864009 | - |
Top |
FusionProtFeatures for SEL1L_SERTAD2 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| SEL1L | SERTAD2 |
| Plays a role in the endoplasmic reticulum qualitycontrol (ERQC) system also called ER-associated degradation (ERAD)involved in ubiquitin-dependent degradation of misfoldedendoplasmic reticulum proteins (PubMed:16186509). Enhances SYVN1stability. Plays a role in LPL maturation and secretion. Requiredfor normal differentiation of the pancreas epithelium, and fornormal exocrine function and survival of pancreatic cells. Mayplay a role in Notch signaling. {ECO:0000250|UniProtKB:Q9Z2G6,ECO:0000269|PubMed:16186509}. | Acts at E2F-responsive promoters as coregulator tointegrate signals provided by PHD- and/or bromodomain-containingtranscription factors. May act as coactivator as well ascorepressor of E2F1-TFDP1 and E2F4-TFDP1 complexes on E2Fconsensus binding sites, which would activate or inhibit E2F-target genes expression. Modulates fat storage by down-regulatingthe expression of key genes involved in adipocyte lipolysis,thermogenesis and oxidative metabolism.{ECO:0000269|PubMed:11331592}. |
| 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 SEL1L_SERTAD2 |
| 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 SEL1L_SERTAD2 |
| 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 |
| SEL1L | IGHM, TRA, DERL2, SYVN1, DERL1, EDEM1, FOXRED2, RPN1, UNC93B1, FAM8A1, SARAF, OS9, AUP1, UBXN4, FAF2, UBE2J1, ERN1, ERLEC1, FLOT1, MYH9, SYNJ2BP, BSG, CLN5, EGFR, RPL6, FBXO6, USP19, HEY2, HEY1, SHH, ITGB1, ITGA5, ITGB4, TMEM129, HYOU1, NTRK1, TCTN1, HSP90B1, METTL3, AMFR, EDEM2, EDEM3, HSPA5, ACP5, AMIGO3, SLAMF1, TMEM5, CHST12, CPA5, TPSB2, SMPD1, PSG8, ZPBP2, PTPRE, PTPRO, TRIM25 | SERTAD2 | KAT2B, SUPT7L, TRIM28, XPO1, ELAVL1, TRIM25 |
| - 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 SEL1L_SERTAD2 |
| 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 SEL1L_SERTAD2 |
| 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)
|