|
||||||
|
 | |
| |
| |
| |
| |
|
Fusion gene ID: 3768 |
FusionGeneSummary for BABAM1_MALAT1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: BABAM1_MALAT1 | Fusion gene ID: 3768 | Hgene | Tgene | Gene symbol | BABAM1 | MALAT1 | Gene ID | 29086 | 378938 |
| Gene name | BRISC and BRCA1 A complex member 1 | metastasis associated lung adenocarcinoma transcript 1 | |
| Synonyms | C19orf62|HSPC142|MERIT40|NBA1 | HCN|LINC00047|NCRNA00047|NEAT2|PRO2853 | |
| Cytomap | 19p13.11 | 11q13.1 | |
| Type of gene | protein-coding | ncRNA | |
| Description | BRISC and BRCA1-A complex member 1BRCA1-A complex subunit MERIT40mediator of RAP80 interactions and targeting subunit of 40 kDamediator of Rap80 interactions and targeting 40 kDanew component of the BRCA1-A complexnew component of the BRCAA1 A comple | hepcarcinlong intergenic non-protein coding RNA 47metastasis associated lung adenocarcinoma transcript 1 (non-protein coding)nuclear enriched abundant transcript 2nuclear paraspeckle assembly transcript 2 (non-protein coding) | |
| Modification date | 20180522 | 20180527 | |
| UniProtAcc | Q9NWV8 | ||
| Ensembl transtripts involved in fusion gene | ENST00000598188, ENST00000359435, ENST00000447614, ENST00000601043, ENST00000448635, ENST00000595632, | ENST00000534336, | |
| Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 71 X 110 X 1=7810 |
| # samples | 3 | 126 | |
| ** MAII score | log2(3/1*10)=4.90689059560852 | log2(126/7810*10)=-2.63189881464206 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: BABAM1 [Title/Abstract] AND MALAT1 [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 |
| 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 | DW420833 | BABAM1 | chr19 | 17378339 | + | MALAT1 | chr11 | 65266978 | + | ||
| ChiTaRS3.1 | DW412002 | BABAM1 | chr19 | 17378339 | + | MALAT1 | chr11 | 65266978 | + | ||
| ChiTaRS3.1 | DW413863 | BABAM1 | chr19 | 17378339 | + | MALAT1 | chr11 | 65266978 | + |
| * 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 |
| 5UTR-3UTR | ENST00000598188 | ENST00000534336 | BABAM1 | chr19 | 17378339 | + | MALAT1 | chr11 | 65266978 | + |
| 5UTR-3UTR | ENST00000359435 | ENST00000534336 | BABAM1 | chr19 | 17378339 | + | MALAT1 | chr11 | 65266978 | + |
| 5UTR-3UTR | ENST00000447614 | ENST00000534336 | BABAM1 | chr19 | 17378339 | + | MALAT1 | chr11 | 65266978 | + |
| intron-3UTR | ENST00000601043 | ENST00000534336 | BABAM1 | chr19 | 17378339 | + | MALAT1 | chr11 | 65266978 | + |
| 3UTR-3UTR | ENST00000448635 | ENST00000534336 | BABAM1 | chr19 | 17378339 | + | MALAT1 | chr11 | 65266978 | + |
| 5UTR-3UTR | ENST00000595632 | ENST00000534336 | BABAM1 | chr19 | 17378339 | + | MALAT1 | chr11 | 65266978 | + |
Top |
FusionProtFeatures for BABAM1_MALAT1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| BABAM1 | MALAT1 |
| Component of the BRCA1-A complex, a complex thatspecifically recognizes 'Lys-63'-linked ubiquitinated histones H2Aand H2AX at DNA lesions sites, leading to target the BRCA1-BARD1heterodimer to sites of DNA damage at double-strand breaks (DSBs).The BRCA1-A complex also possesses deubiquitinase activity thatspecifically removes 'Lys-63'-linked ubiquitin on histones H2A andH2AX. In the BRCA1-A complex, it is required for the complexintegrity and its localization at DSBs. Component of the BRISCcomplex, a multiprotein complex that specifically cleaves 'Lys-63'-linked ubiquitin in various substrates (PubMed:24075985,PubMed:26195665). In these 2 complexes, it is probably required tomaintain the stability of BABAM2 and help the 'Lys-63'-linkeddeubiquitinase activity mediated by BRCC3/BRCC36 component. TheBRISC complex is required for normal mitotic spindle assembly andmicrotubule attachment to kinetochores via its role indeubiquitinating NUMA1 (PubMed:26195665). Plays a role ininterferon signaling via its role in the deubiquitination of theinterferon receptor IFNAR1; deubiquitination increases IFNAR1activity by enhancing its stability and cell surface expression(PubMed:24075985). Down-regulates the response to bacteriallipopolysaccharide (LPS) via its role in IFNAR1 deubiquitination(PubMed:24075985). {ECO:0000269|PubMed:19261746,ECO:0000269|PubMed:19261748, ECO:0000269|PubMed:19261749}. | Lectin that binds to various sugars: galactose > mannose= fucose > N-acetylglucosamine > N-acetylgalactosamine(PubMed:10224141). Acts as a chemoattractant, probably involved inthe regulation of cell migration (PubMed:28301481).{ECO:0000269|PubMed:10224141, ECO:0000269|PubMed:28301481}. |
| 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 BABAM1_MALAT1 |
| 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 BABAM1_MALAT1 |
| 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 |
Top |
RelatedDrugs for BABAM1_MALAT1 |
| 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 BABAM1_MALAT1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | BABAM1 | C0919267 | ovarian neoplasm | 1 | CTD_human |
| Tgene | MALAT1 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
| Tgene | MALAT1 | C0023903 | Liver neoplasms | 1 | CTD_human |
| Tgene | MALAT1 | C0027626 | Neoplasm Invasiveness | 1 | CTD_human |
| Tgene | MALAT1 | C0027627 | Neoplasm Metastasis | 1 | CTD_human |
| Tgene | MALAT1 | C0032460 | Polycystic Ovary Syndrome | 1 | CTD_human |
| Tgene | MALAT1 | C0236663 | Alcohol withdrawal syndrome | 1 | PSYGENET |
| Tgene | MALAT1 | C0279626 | Squamous cell carcinoma of esophagus | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|