|
||||||
|
 | |
| |
| |
| |
| |
|
Fusion gene ID: 37830 |
FusionGeneSummary for TFE3_CYP11A1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: TFE3_CYP11A1 | Fusion gene ID: 37830 | Hgene | Tgene | Gene symbol | TFE3 | CYP11A1 | Gene ID | 7030 | 1583 |
| Gene name | transcription factor binding to IGHM enhancer 3 | cytochrome P450 family 11 subfamily A member 1 | |
| Synonyms | RCCP2|RCCX1|TFEA|bHLHe33 | CYP11A|CYPXIA1|P450SCC | |
| Cytomap | Xp11.23 | 15q24.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | transcription factor E3class E basic helix-loop-helix protein 33transcription factor E family, member Atranscription factor for IgH enhancertranscription factor for immunoglobulin heavy-chain enhancer 3 | cholesterol side-chain cleavage enzyme, mitochondrialcholesterol 20-22 desmolasecholesterol monooxygenase (side-chain cleaving)cytochrome P450 11A1cytochrome P450 family 11 subfamily A polypeptide 1cytochrome P450(scc)cytochrome P450, subfamily XIA | |
| Modification date | 20180527 | 20180523 | |
| UniProtAcc | P19532 | P05108 | |
| Ensembl transtripts involved in fusion gene | ENST00000315869, ENST00000487451, | ENST00000358632, ENST00000268053, ENST00000419019, ENST00000541301, ENST00000467407, | |
| Fusion gene scores | * DoF score | 5 X 5 X 3=75 | 6 X 4 X 4=96 |
| # samples | 6 | 8 | |
| ** MAII score | log2(6/75*10)=-0.321928094887362 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(8/96*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: TFE3 [Title/Abstract] AND CYP11A1 [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 | CYP11A1 | GO:0006700 | C21-steroid hormone biosynthetic process | 11502818|18182448|21636783 |
| Tgene | CYP11A1 | GO:0008203 | cholesterol metabolic process | 21636783 |
| 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 | AA368421 | TFE3 | chrX | 48891263 | + | CYP11A1 | chr15 | 74637560 | + |
| * 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-5UTR | ENST00000315869 | ENST00000358632 | TFE3 | chrX | 48891263 | + | CYP11A1 | chr15 | 74637560 | + |
| intron-5UTR | ENST00000315869 | ENST00000268053 | TFE3 | chrX | 48891263 | + | CYP11A1 | chr15 | 74637560 | + |
| intron-5UTR | ENST00000315869 | ENST00000419019 | TFE3 | chrX | 48891263 | + | CYP11A1 | chr15 | 74637560 | + |
| intron-intron | ENST00000315869 | ENST00000541301 | TFE3 | chrX | 48891263 | + | CYP11A1 | chr15 | 74637560 | + |
| intron-intron | ENST00000315869 | ENST00000467407 | TFE3 | chrX | 48891263 | + | CYP11A1 | chr15 | 74637560 | + |
| intron-5UTR | ENST00000487451 | ENST00000358632 | TFE3 | chrX | 48891263 | + | CYP11A1 | chr15 | 74637560 | + |
| intron-5UTR | ENST00000487451 | ENST00000268053 | TFE3 | chrX | 48891263 | + | CYP11A1 | chr15 | 74637560 | + |
| intron-5UTR | ENST00000487451 | ENST00000419019 | TFE3 | chrX | 48891263 | + | CYP11A1 | chr15 | 74637560 | + |
| intron-intron | ENST00000487451 | ENST00000541301 | TFE3 | chrX | 48891263 | + | CYP11A1 | chr15 | 74637560 | + |
| intron-intron | ENST00000487451 | ENST00000467407 | TFE3 | chrX | 48891263 | + | CYP11A1 | chr15 | 74637560 | + |
Top |
FusionProtFeatures for TFE3_CYP11A1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| TFE3 | CYP11A1 |
| Transcription factor that specifically recognizes andbinds E-box sequences (5'-CANNTG-3'). Efficient DNA-bindingrequires dimerization with itself or with another MiT/TFE familymember such as TFEB or MITF. In association with TFEB, activatesthe expression of CD40L in T-cells, thereby playing a role in T-cell-dependent antibody responses in activated CD4(+) T-cells andthymus-dependent humoral immunity. Specifically recognizes theMUE3 box, a subset of E-boxes, present in the immunoglobulinenhancer. It also binds very well to a USF/MLTF site. | Catalyzes the side-chain cleavage reaction ofcholesterol to pregnenolone, the precursor of most steroidhormones. {ECO:0000269|PubMed:21636783}. |
| 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 TFE3_CYP11A1 |
| 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 TFE3_CYP11A1 |
| 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 TFE3_CYP11A1 |
| 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 | CYP11A1 | P05108 | DB00357 | Aminoglutethimide | Cholesterol side-chain cleavage enzyme, mitochondrial | small molecule | approved|investigational |
Top |
RelatedDiseases for TFE3_CYP11A1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | CYP11A1 | C3151055 | ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL, PARTIAL OR COMPLETE | 4 | ORPHANET;UNIPROT |
| Tgene | CYP11A1 | C0001623 | Adrenal gland hypofunction | 1 | CTD_human;HPO |
| Tgene | CYP11A1 | C0014170 | Endometrial Neoplasms | 1 | CTD_human |
| Tgene | CYP11A1 | C0036572 | Seizures | 1 | CTD_human |
| Tgene | CYP11A1 | C0342474 | Lipoid congenital adrenal hyperplasia | 1 | CTD_human |
| Tgene | CYP11A1 | C2751824 | 46, XY Disorders of Sex Development | 1 | CTD_human |
| Tgene | CYP11A1 | C3496069 | cocaine use | 1 | PSYGENET |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|