|
||||||
|
 | |
| |
| |
| |
| |
|
Fusion gene ID: 16402 |
FusionGeneSummary for HLTF_TM4SF1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: HLTF_TM4SF1 | Fusion gene ID: 16402 | Hgene | Tgene | Gene symbol | HLTF | TM4SF1 | Gene ID | 6596 | 4071 |
| Gene name | helicase like transcription factor | transmembrane 4 L six family member 1 | |
| Synonyms | HIP116|HIP116A|HLTF1|RNF80|SMARCA3|SNF2L3|ZBU1 | H-L6|L6|M3S1|TAAL6 | |
| Cytomap | 3q24 | 3q25.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | helicase-like transcription factorDNA-binding protein/plasminogen activator inhibitor-1 regulatorRING finger protein 80RING-type E3 ubiquitin transferase HLTFSNF2-like 3SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfa | transmembrane 4 L6 family member 1membrane component, chromosome 3, surface marker 1transmembrane 4 superfamily member 1tumor-associated antigen L6 | |
| Modification date | 20180519 | 20180523 | |
| UniProtAcc | Q14527 | P30408 | |
| Ensembl transtripts involved in fusion gene | ENST00000465259, ENST00000310053, ENST00000392912, ENST00000494055, ENST00000481663, | ENST00000305366, ENST00000472441, | |
| Fusion gene scores | * DoF score | 2 X 2 X 2=8 | 7 X 5 X 4=140 |
| # samples | 2 | 7 | |
| ** MAII score | log2(2/8*10)=1.32192809488736 | log2(7/140*10)=-1 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: HLTF [Title/Abstract] AND TM4SF1 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | 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. DDR (DNA damage repair) gene involved fusion gene, retained protein feature but frameshift. | ||
| * 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 |
| 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 | STAD | TCGA-BR-8060-01A | HLTF | chr3 | 148759953 | - | TM4SF1 | chr3 | 149093556 | - |
| * 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 |
| Frame-shift | ENST00000465259 | ENST00000305366 | HLTF | chr3 | 148759953 | - | TM4SF1 | chr3 | 149093556 | - |
| 5CDS-intron | ENST00000465259 | ENST00000472441 | HLTF | chr3 | 148759953 | - | TM4SF1 | chr3 | 149093556 | - |
| Frame-shift | ENST00000310053 | ENST00000305366 | HLTF | chr3 | 148759953 | - | TM4SF1 | chr3 | 149093556 | - |
| 5CDS-intron | ENST00000310053 | ENST00000472441 | HLTF | chr3 | 148759953 | - | TM4SF1 | chr3 | 149093556 | - |
| Frame-shift | ENST00000392912 | ENST00000305366 | HLTF | chr3 | 148759953 | - | TM4SF1 | chr3 | 149093556 | - |
| 5CDS-intron | ENST00000392912 | ENST00000472441 | HLTF | chr3 | 148759953 | - | TM4SF1 | chr3 | 149093556 | - |
| Frame-shift | ENST00000494055 | ENST00000305366 | HLTF | chr3 | 148759953 | - | TM4SF1 | chr3 | 149093556 | - |
| 5CDS-intron | ENST00000494055 | ENST00000472441 | HLTF | chr3 | 148759953 | - | TM4SF1 | chr3 | 149093556 | - |
| intron-3CDS | ENST00000481663 | ENST00000305366 | HLTF | chr3 | 148759953 | - | TM4SF1 | chr3 | 149093556 | - |
| intron-intron | ENST00000481663 | ENST00000472441 | HLTF | chr3 | 148759953 | - | TM4SF1 | chr3 | 149093556 | - |
Top |
FusionProtFeatures for HLTF_TM4SF1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| HLTF | TM4SF1 |
| Has both helicase and E3 ubiquitin ligase activities.Possesses intrinsic ATP-dependent nucleosome-remodeling activity;This activity may be required for transcriptional activation orrepression of specific target promoters (By similarity). These mayinclude the SERPINE1 and HIV-1 promoters and the SV40 enhancer, towhich this protein can bind directly. Plays a role in error-freepostreplication repair (PRR) of damaged DNA and maintains genomicstability through acting as a ubiquitin ligase for 'Lys-63'-linkedpolyubiquitination of chromatin-bound PCNA. {ECO:0000250,ECO:0000269|PubMed:10391891, ECO:0000269|PubMed:18316726,ECO:0000269|PubMed:18719106, ECO:0000269|PubMed:7876228,ECO:0000269|PubMed:8672239, ECO:0000269|PubMed:9126292}. |
| 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 HLTF_TM4SF1 |
| 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 HLTF_TM4SF1 |
| 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 |
| HLTF | PCNA, UBE2N, UBE2V2, RAD18, USP7, RPAP1, UBE2Z, EWSR1, CHFR, SHPRH, RNF146, ELAVL1, SPRTN, SP1, SP3, NOTCH1, DTL, BRCA1, CDK9, HSPA8, SULT1C2, WBP4, RPA3, RPA2, RPA1, UBC, UBE2A, HLTF, DLD, RNF166, APLF, HIST1H2BA, S100A10, FBXW11, NTRK1, PDK3, SMC1A, EMC2, AP4S1, SYNPO, CERK, TCEAL4, SNW1, CDC5L, NANOG, POU5F1, NFATC1, NFATC2, PMPCA, CHD1L, FEN1, VPRBP | TM4SF1 | DNAJA1, HSPA8, DDR1, 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 HLTF_TM4SF1 |
| 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 HLTF_TM4SF1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | HLTF | C0022665 | Kidney Neoplasm | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|