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Fusion gene ID: 37917 |
FusionGeneSummary for TGFBRAP1_CCDC146 |
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Fusion gene information | Fusion gene name: TGFBRAP1_CCDC146 | Fusion gene ID: 37917 | Hgene | Tgene | Gene symbol | TGFBRAP1 | CCDC146 | Gene ID | 9392 | 57639 |
Gene name | transforming growth factor beta receptor associated protein 1 | coiled-coil domain containing 146 | |
Synonyms | TRAP-1|TRAP1|VPS3 | - | |
Cytomap | 2q12.1-q12.2 | 7q11.23 | |
Type of gene | protein-coding | protein-coding | |
Description | transforming growth factor-beta receptor-associated protein 1TGF-beta receptor-associated protein 1VPS3 CORVET complex subunit | coiled-coil domain-containing protein 146 | |
Modification date | 20180523 | 20180519 | |
UniProtAcc | Q8WUH2 | Q8IYE0 | |
Ensembl transtripts involved in fusion gene | ENST00000393359, ENST00000258449, | ENST00000431197, ENST00000285871, ENST00000415740, | |
Fusion gene scores | * DoF score | 4 X 3 X 3=36 | 2 X 2 X 3=12 |
# samples | 4 | 3 | |
** MAII score | log2(4/36*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(3/12*10)=1.32192809488736 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
Context | PubMed: TGFBRAP1 [Title/Abstract] AND CCDC146 [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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | TGFBRAP1 | GO:0006355 | regulation of transcription, DNA-templated | 11278302 |
Hgene | TGFBRAP1 | GO:0007165 | signal transduction | 11278302 |
![]() (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 | HNSC | TCGA-CV-5431-01A | TGFBRAP1 | chr2 | 105912813 | - | CCDC146 | chr7 | 76866264 | + |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * 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 | ENST00000393359 | ENST00000431197 | TGFBRAP1 | chr2 | 105912813 | - | CCDC146 | chr7 | 76866264 | + |
5CDS-5UTR | ENST00000393359 | ENST00000285871 | TGFBRAP1 | chr2 | 105912813 | - | CCDC146 | chr7 | 76866264 | + |
5CDS-intron | ENST00000393359 | ENST00000415740 | TGFBRAP1 | chr2 | 105912813 | - | CCDC146 | chr7 | 76866264 | + |
5CDS-5UTR | ENST00000258449 | ENST00000431197 | TGFBRAP1 | chr2 | 105912813 | - | CCDC146 | chr7 | 76866264 | + |
5CDS-5UTR | ENST00000258449 | ENST00000285871 | TGFBRAP1 | chr2 | 105912813 | - | CCDC146 | chr7 | 76866264 | + |
5CDS-intron | ENST00000258449 | ENST00000415740 | TGFBRAP1 | chr2 | 105912813 | - | CCDC146 | chr7 | 76866264 | + |
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FusionProtFeatures for TGFBRAP1_CCDC146 |
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Hgene | Tgene |
TGFBRAP1 | CCDC146 |
Plays a role in the TGF-beta/activin signaling pathway.It associates with inactive heteromeric TGF-beta and activinreceptor complexes, mainly through the type II receptor, and isreleased upon activation of signaling. May recruit SMAD4 to thevicinity of the receptor complex and facilitate its interactionwith receptor-regulated Smads, such as SMAD2.{ECO:0000269|PubMed:11278302, ECO:0000269|PubMed:9545258}. Plays a role in vesicle-mediated protein trafficking ofthe endocytic membrane transport pathway. Believed to act as acomponent of the putative CORVET endosomal tethering complexeswhich is proposed to be involved in the Rab5-to-Rab7 endosomeconversion probably implicating MON1A/B, and via binding SNAREsand SNARE complexes to mediate tethering and docking events duringSNARE-mediated membrane fusion. The CORVET complex is proposed tofunction as a Rab5 effector to mediate early endosome fusionprobably in specific endosome subpopulations (PubMed:25266290).Functions predominantly in APPL1-containing endosomes and indegradative but not recycling trafficking of endocytosed cargo(PubMed:25266290). {ECO:0000269|PubMed:25266290,ECO:0000305|PubMed:25266290}. |
![]() * 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 TGFBRAP1_CCDC146 |
![]() (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 TGFBRAP1_CCDC146 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
TGFBRAP1 | ALOX5, SMAD4, UVRAG, VPS41, NRBF2, VPS11, ACVR1, TGFBR1, TGFBR2, VPS18, VPS16, VPS8, VPS33A, ISOC2, C15orf27, ARFGAP1, C7orf60, CROCC, TRIM25 | CCDC146 | CUL1, TRIM23, GOLGA2, KRT18, KRT19, MAGEA6, MAGEA11, PSMC6, VPS52, TNR, TPM3, TRAF1, KRT38, PNMA1, PDE4DIP, RNF40, NINL, MTUS2, CCNDBP1, NUP62, TFIP11, MED4, GMNN, NECAB2, RPGRIP1, TRIM54, RINT1, CCDC136, CEP44, TSC22D4, USHBP1, DTNBP1, KRT40, SPERT, CEP170P1, RAB3IP, EGFR |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for TGFBRAP1_CCDC146 |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for TGFBRAP1_CCDC146 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |