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Fusion gene ID: 39114 |
FusionGeneSummary for TOR1A_COG4 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: TOR1A_COG4 | Fusion gene ID: 39114 | Hgene | Tgene | Gene symbol | TOR1A | COG4 | Gene ID | 1861 | 25839 |
| Gene name | torsin family 1 member A | component of oligomeric golgi complex 4 | |
| Synonyms | DQ2|DYT1 | CDG2J|COD1 | |
| Cytomap | 9q34.11 | 16q22.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | torsin-1Adystonia 1 proteindystonia 1, torsion (autosomal dominant; torsin A)torsin Atorsin ATPase 1torsin ATPase-1A | conserved oligomeric Golgi complex subunit 4COG complex subunit 4complexed with Dor1pconserved oligomeric Golgi complex protein 4 | |
| Modification date | 20180519 | 20180523 | |
| UniProtAcc | O14656 | Q9H9E3 | |
| Ensembl transtripts involved in fusion gene | ENST00000351698, ENST00000473084, | ENST00000323786, ENST00000393612, ENST00000564653, | |
| Fusion gene scores | * DoF score | 3 X 3 X 3=27 | 8 X 7 X 8=448 |
| # samples | 4 | 12 | |
| ** MAII score | log2(4/27*10)=0.567040592723894 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(12/448*10)=-1.90046432644909 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: TOR1A [Title/Abstract] AND COG4 [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 | TOR1A | GO:0051260 | protein homooligomerization | 20015956 |
| Hgene | TOR1A | GO:0051584 | regulation of dopamine uptake involved in synaptic transmission | 15505207 |
| Hgene | TOR1A | GO:0061077 | chaperone-mediated protein folding | 20169475 |
| Hgene | TOR1A | GO:0072321 | chaperone-mediated protein transport | 15505207 |
| 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 | PRAD | TCGA-HC-7748-01A | TOR1A | chr9 | 132576362 | - | COG4 | chr16 | 70524295 | - |
| * 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-3CDS | ENST00000351698 | ENST00000323786 | TOR1A | chr9 | 132576362 | - | COG4 | chr16 | 70524295 | - |
| intron-intron | ENST00000351698 | ENST00000393612 | TOR1A | chr9 | 132576362 | - | COG4 | chr16 | 70524295 | - |
| intron-intron | ENST00000351698 | ENST00000564653 | TOR1A | chr9 | 132576362 | - | COG4 | chr16 | 70524295 | - |
| intron-3CDS | ENST00000473084 | ENST00000323786 | TOR1A | chr9 | 132576362 | - | COG4 | chr16 | 70524295 | - |
| intron-intron | ENST00000473084 | ENST00000393612 | TOR1A | chr9 | 132576362 | - | COG4 | chr16 | 70524295 | - |
| intron-intron | ENST00000473084 | ENST00000564653 | TOR1A | chr9 | 132576362 | - | COG4 | chr16 | 70524295 | - |
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FusionProtFeatures for TOR1A_COG4 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| TOR1A | COG4 |
| Protein with chaperone functions important for thecontrol of protein folding, processing, stability and localizationas well as for the reduction of misfolded protein aggregates.Involved in the regulation of synaptic vesicle recycling, controlsSTON2 protein stability in collaboration with the COP9 signalosomecomplex (CSN). In the nucleus, may link the cytoskeleton with thenuclear envelope, this mechanism seems to be crucial for thecontrol of nuclear polarity, cell movement and, specifically inneurons, nuclear envelope integrity. Participates in the cellulartrafficking and may regulate the subcellular location of multipassmembrane proteins such as the dopamine transporter SLC6A3, leadingto the modulation of dopamine neurotransmission. In theendoplasmic reticulum, plays a role in the quality control ofprotein folding by increasing clearance of misfolded proteins suchas SGCE variants or holding them in an intermediate state forproper refolding. May have a redundant function with TOR1B in non-neural tissues. {ECO:0000269|PubMed:15505207,ECO:0000269|PubMed:16361107, ECO:0000269|PubMed:17428918,ECO:0000269|PubMed:18167355, ECO:0000269|PubMed:18827015,ECO:0000269|PubMed:19339278, ECO:0000269|PubMed:20169475,ECO:0000269|PubMed:23569223}. | Required for normal Golgi function. Plays a role inSNARE-pin assembly and Golgi-to-ER retrograde transport via itsinteraction with SCFD1. {ECO:0000269|PubMed:19536132}. |
| 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 TOR1A_COG4 |
| 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 TOR1A_COG4 |
| 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 |
| TOR1A | DHCR7, DYNC1H1, CNIH4, TOR1B, SNCA, LMNA, H2AFX, ELAVL1, FBXO2, COPS4, SNAPIN, STON2, KLHL14, TOR1AIP1, TOR1AIP2, TOR3A, TOR1A, CANX, KRTAP10-7, CUL7, HSD11B1, ASPHD2, FAM20B, TOR2A, TEX29, TCTN1, SPPL2B, ATP2B2, CLEC3A, CLU, C1GALT1C1, APOD | COG4 | COG1, COG2, COG5, COG7, COG3, APC, SEPT2, CUL4B, COG8, RPS20, VCP, COG6, EGFR, BSG, CD274, VSIG2, CA14, TEKT4, SCN2B, NTRK1, HDAC1, PDK1, SMEK1, CCDC40, PSMC5, TMCO3, NUP54, CCDC59, COMMD8, VSIG1, OPRM1, SIGLECL1, RAB30, MTNR1B |
| - 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 TOR1A_COG4 |
| 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 |
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RelatedDiseases for TOR1A_COG4 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | TOR1A | C0013421 | Dystonia | 3 | CTD_human |
| Hgene | TOR1A | C1851945 | DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT | 2 | UNIPROT |
| Hgene | TOR1A | C0221480 | Recurrent depression | 1 | PSYGENET |
| Hgene | TOR1A | C0393593 | Dystonia Disorders | 1 | CTD_human |
| Tgene | COG4 | C0032927 | Precancerous Conditions | 1 | CTD_human |
| Tgene | COG4 | C3150736 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIj | 1 | CTD_human;ORPHANET;UNIPROT |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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