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Fusion gene ID: 20687 |
FusionGeneSummary for MALT1_CYP19A1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: MALT1_CYP19A1 | Fusion gene ID: 20687 | Hgene | Tgene | Gene symbol | MALT1 | CYP19A1 | Gene ID | 10892 | 1588 |
| Gene name | MALT1 paracaspase | cytochrome P450 family 19 subfamily A member 1 | |
| Synonyms | IMD12|MLT|MLT1|PCASP1 | ARO|ARO1|CPV1|CYAR|CYP19|CYPXIX|P-450AROM | |
| Cytomap | 18q21.32 | 15q21.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | mucosa-associated lymphoid tissue lymphoma translocation protein 1MALT lymphoma-associated translocationMALT1 proteasecaspase-like proteinmucosa associated lymphoid tissue lymphoma translocation gene 1paracaspaseparacaspase-1 | aromatasecytochrome P-450AROMcytochrome P450 19A1cytochrome P450, family 19, subfamily A, polypeptide 1cytochrome P450, subfamily XIX (aromatization of androgens)estrogen synthaseestrogen synthetaseflavoprotein-linked monooxygenasemicrosomal monoo | |
| Modification date | 20180529 | 20180520 | |
| UniProtAcc | Q9UDY8 | P11511 | |
| Ensembl transtripts involved in fusion gene | ENST00000348428, ENST00000345724, | ENST00000396402, ENST00000260433, ENST00000396404, ENST00000559878, ENST00000405913, ENST00000557858, ENST00000492852, | |
| Fusion gene scores | * DoF score | 4 X 4 X 3=48 | 9 X 9 X 3=243 |
| # samples | 5 | 11 | |
| ** MAII score | log2(5/48*10)=0.0588936890535686 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(11/243*10)=-1.14345279008112 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: MALT1 [Title/Abstract] AND CYP19A1 [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 | MALT1 | GO:0006508 | proteolysis | 18223652 |
| Hgene | MALT1 | GO:0042981 | regulation of apoptotic process | 12819136 |
| Hgene | MALT1 | GO:0050852 | T cell receptor signaling pathway | 15125833 |
| Hgene | MALT1 | GO:0051168 | nuclear export | 16123224 |
| Hgene | MALT1 | GO:0051259 | protein complex oligomerization | 15125833 |
| Tgene | CYP19A1 | GO:0006710 | androgen catabolic process | 26482249 |
| Tgene | CYP19A1 | GO:2000866 | positive regulation of estradiol secretion | 26482249 |
| 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 | BF888866 | MALT1 | chr18 | 56368536 | + | CYP19A1 | chr15 | 51506489 | + | ||
| ChiTaRS3.1 | BF889014 | MALT1 | chr18 | 56368536 | + | CYP19A1 | chr15 | 51506489 | + |
| * 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 |
| intron-intron | ENST00000348428 | ENST00000396402 | MALT1 | chr18 | 56368536 | + | CYP19A1 | chr15 | 51506489 | + |
| intron-intron | ENST00000348428 | ENST00000260433 | MALT1 | chr18 | 56368536 | + | CYP19A1 | chr15 | 51506489 | + |
| intron-intron | ENST00000348428 | ENST00000396404 | MALT1 | chr18 | 56368536 | + | CYP19A1 | chr15 | 51506489 | + |
| intron-intron | ENST00000348428 | ENST00000559878 | MALT1 | chr18 | 56368536 | + | CYP19A1 | chr15 | 51506489 | + |
| intron-intron | ENST00000348428 | ENST00000405913 | MALT1 | chr18 | 56368536 | + | CYP19A1 | chr15 | 51506489 | + |
| intron-intron | ENST00000348428 | ENST00000557858 | MALT1 | chr18 | 56368536 | + | CYP19A1 | chr15 | 51506489 | + |
| intron-intron | ENST00000348428 | ENST00000492852 | MALT1 | chr18 | 56368536 | + | CYP19A1 | chr15 | 51506489 | + |
| intron-intron | ENST00000345724 | ENST00000396402 | MALT1 | chr18 | 56368536 | + | CYP19A1 | chr15 | 51506489 | + |
| intron-intron | ENST00000345724 | ENST00000260433 | MALT1 | chr18 | 56368536 | + | CYP19A1 | chr15 | 51506489 | + |
| intron-intron | ENST00000345724 | ENST00000396404 | MALT1 | chr18 | 56368536 | + | CYP19A1 | chr15 | 51506489 | + |
| intron-intron | ENST00000345724 | ENST00000559878 | MALT1 | chr18 | 56368536 | + | CYP19A1 | chr15 | 51506489 | + |
| intron-intron | ENST00000345724 | ENST00000405913 | MALT1 | chr18 | 56368536 | + | CYP19A1 | chr15 | 51506489 | + |
| intron-intron | ENST00000345724 | ENST00000557858 | MALT1 | chr18 | 56368536 | + | CYP19A1 | chr15 | 51506489 | + |
| intron-intron | ENST00000345724 | ENST00000492852 | MALT1 | chr18 | 56368536 | + | CYP19A1 | chr15 | 51506489 | + |
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FusionProtFeatures for MALT1_CYP19A1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| MALT1 | CYP19A1 |
| Enhances BCL10-induced activation of NF-kappa-B.Involved in nuclear export of BCL10. Binds to TRAF6, inducingTRAF6 oligomerization and activation of its ligase activity. Hasubiquitin ligase activity. MALT1-dependent BCL10 cleavage plays animportant role in T-cell antigen receptor-induced integrinadhesion. Involved in the induction of T helper 17 cells (Th17)differentiation. Cleaves RC3H1 and ZC3H12A in response to T-cellreceptor (TCR) stimulation which releases their cooperativelyrepressed targets to promote Th17 cell differentiation (Bysimilarity). {ECO:0000250|UniProtKB:Q2TBA3,ECO:0000269|PubMed:11262391, ECO:0000269|PubMed:14695475,ECO:0000269|PubMed:18264101}. | Catalyzes the formation of aromatic C18 estrogens fromC19 androgens. |
| 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 MALT1_CYP19A1 |
| 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 MALT1_CYP19A1 |
| 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 MALT1_CYP19A1 |
| 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 |
| Tgene | CYP19A1 | P11511 | DB00184 | Nicotine | Aromatase | small molecule | approved |
| Tgene | CYP19A1 | P11511 | DB00655 | Estrone | Aromatase | small molecule | approved |
| Tgene | CYP19A1 | P11511 | DB00357 | Aminoglutethimide | Aromatase | small molecule | approved|investigational |
| Tgene | CYP19A1 | P11511 | DB00990 | Exemestane | Aromatase | small molecule | approved|investigational |
| Tgene | CYP19A1 | P11511 | DB01006 | Letrozole | Aromatase | small molecule | approved|investigational |
| Tgene | CYP19A1 | P11511 | DB01026 | Ketoconazole | Aromatase | small molecule | approved|investigational |
| Tgene | CYP19A1 | P11511 | DB01217 | Anastrozole | Aromatase | small molecule | approved|investigational |
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RelatedDiseases for MALT1_CYP19A1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | MALT1 | C0079744 | Diffuse Large B-Cell Lymphoma | 1 | CTD_human |
| Hgene | MALT1 | C3809583 | IMMUNODEFICIENCY 12 | 1 | ORPHANET;UNIPROT |
| Tgene | CYP19A1 | C1960539 | Aromatase deficiency | 6 | CTD_human;ORPHANET;UNIPROT |
| Tgene | CYP19A1 | C0032460 | Polycystic Ovary Syndrome | 4 | CTD_human |
| Tgene | CYP19A1 | C1458155 | Mammary Neoplasms | 3 | CTD_human |
| Tgene | CYP19A1 | C0014175 | Endometriosis | 2 | CTD_human |
| Tgene | CYP19A1 | C0033578 | Prostatic Neoplasms | 2 | CTD_human |
| Tgene | CYP19A1 | C0001418 | Adenocarcinoma | 1 | CTD_human |
| Tgene | CYP19A1 | C0002453 | Amenorrhea | 1 | CTD_human |
| Tgene | CYP19A1 | C0004352 | Autistic Disorder | 1 | CTD_human |
| Tgene | CYP19A1 | C0005974 | Bone Resorption | 1 | CTD_human |
| Tgene | CYP19A1 | C0014859 | Esophageal Neoplasms | 1 | CTD_human |
| Tgene | CYP19A1 | C0015695 | Fatty Liver | 1 | CTD_human |
| Tgene | CYP19A1 | C0016059 | Fibrosis | 1 | CTD_human |
| Tgene | CYP19A1 | C0020619 | Hypogonadism | 1 | CTD_human |
| Tgene | CYP19A1 | C0020635 | Hypopituitarism | 1 | CTD_human |
| Tgene | CYP19A1 | C0021361 | Female infertility | 1 | CTD_human;HPO |
| Tgene | CYP19A1 | C0029456 | Osteoporosis | 1 | CTD_human;HPO |
| Tgene | CYP19A1 | C0029928 | Ovarian Diseases | 1 | CTD_human |
| Tgene | CYP19A1 | C0085207 | Gestational Diabetes | 1 | CTD_human |
| Tgene | CYP19A1 | C0086132 | Depressive Symptoms | 1 | PSYGENET |
| Tgene | CYP19A1 | C0236663 | Alcohol withdrawal syndrome | 1 | PSYGENET |
| Tgene | CYP19A1 | C0242341 | Sexual Infantilism | 1 | CTD_human |
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