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Fusion gene ID: 38111 |
FusionGeneSummary for TIMM8A_TRPC5 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: TIMM8A_TRPC5 | Fusion gene ID: 38111 | Hgene | Tgene | Gene symbol | TIMM8A | TRPC5 | Gene ID | 1678 | 7224 |
| Gene name | translocase of inner mitochondrial membrane 8A | transient receptor potential cation channel subfamily C member 5 | |
| Synonyms | DDP|DDP1|DFN1|MTS|TIM8 | PPP1R159|TRP5 | |
| Cytomap | Xq22.1 | Xq23 | |
| Type of gene | protein-coding | protein-coding | |
| Description | mitochondrial import inner membrane translocase subunit Tim8 AX-linked deafness dystonia proteindeafness dystonia protein 1deafness/dystonia peptidetranslocase of inner mitochondrial membrane 8 homolog A | short transient receptor potential channel 5TRP-5hTRP5protein phosphatase 1, regulatory subunit 159transient receptor potential channel 5transient receptor protein 5 | |
| Modification date | 20180519 | 20180523 | |
| UniProtAcc | O60220 | Q9UL62 | |
| Ensembl transtripts involved in fusion gene | ENST00000372902, ENST00000480575, | ENST00000262839, | |
| Fusion gene scores | * DoF score | 2 X 1 X 2=4 | 2 X 2 X 2=8 |
| # samples | 2 | 2 | |
| ** MAII score | log2(2/4*10)=2.32192809488736 | log2(2/8*10)=1.32192809488736 | |
| Context | PubMed: TIMM8A [Title/Abstract] AND TRPC5 [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 |
| TCGA | LD | LUSC | TCGA-63-A5MI-01A | TIMM8A | chrX | 100603521 | - | TRPC5 | chrX | 111025366 | - |
| * 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 |
| In-frame | ENST00000372902 | ENST00000262839 | TIMM8A | chrX | 100603521 | - | TRPC5 | chrX | 111025366 | - |
| 5UTR-3CDS | ENST00000480575 | ENST00000262839 | TIMM8A | chrX | 100603521 | - | TRPC5 | chrX | 111025366 | - |
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FusionProtFeatures for TIMM8A_TRPC5 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| TIMM8A | TRPC5 |
| Mitochondrial intermembrane chaperone that participatesin the import and insertion of some multi-pass transmembraneproteins into the mitochondrial inner membrane. Also required forthe transfer of beta-barrel precursors from the TOM complex to thesorting and assembly machinery (SAM complex) of the outermembrane. Acts as a chaperone-like protein that protects thehydrophobic precursors from aggregation and guide them through themitochondrial intermembrane space. The TIMM8-TIMM13 complexmediates the import of proteins such as TIMM23, SLC25A12/ARALAR1and SLC25A13/ARALAR2, while the predominant TIMM9-TIMM10 70 kDacomplex mediates the import of much more proteins. Probablynecessary for normal neurologic development.{ECO:0000269|PubMed:11489896, ECO:0000269|PubMed:15254020}. | Thought to form a receptor-activated non-selectivecalcium permeant cation channel. Probably is operated by aphosphatidylinositol second messenger system activated by receptortyrosine kinases or G-protein coupled receptors. Has also beenshown to be calcium-selective (By similarity). May also beactivated by intracellular calcium store depletion. {ECO:0000250,ECO:0000269|PubMed:16284075}. |
| 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 |
| Tgene | >TRPC5 | chrX:100603521 | chrX:111025366 | ENST00000262839 | - | 6 | 11 | 971_973 | 632 | 974 | Region | Essential for binding to NHERF PDZ domain |
| - 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 |
| Tgene | TRPC5 | chrX:100603521 | chrX:111025366 | ENST00000262839 | - | 6 | 11 | 141_170 | 632 | 974 | Repeat | Note=ANK 4 |
| Tgene | TRPC5 | chrX:100603521 | chrX:111025366 | ENST00000262839 | - | 6 | 11 | 31_60 | 632 | 974 | Repeat | Note=ANK 1 |
| Tgene | TRPC5 | chrX:100603521 | chrX:111025366 | ENST00000262839 | - | 6 | 11 | 69_97 | 632 | 974 | Repeat | Note=ANK 2 |
| Tgene | TRPC5 | chrX:100603521 | chrX:111025366 | ENST00000262839 | - | 6 | 11 | 98_124 | 632 | 974 | Repeat | Note=ANK 3 |
| Tgene | TRPC5 | chrX:100603521 | chrX:111025366 | ENST00000262839 | - | 6 | 11 | 1_330 | 632 | 974 | Topological domain | Cytoplasmic |
| Tgene | TRPC5 | chrX:100603521 | chrX:111025366 | ENST00000262839 | - | 6 | 11 | 352_398 | 632 | 974 | Topological domain | Extracellular |
| Tgene | TRPC5 | chrX:100603521 | chrX:111025366 | ENST00000262839 | - | 6 | 11 | 420_437 | 632 | 974 | Topological domain | Cytoplasmic |
| Tgene | TRPC5 | chrX:100603521 | chrX:111025366 | ENST00000262839 | - | 6 | 11 | 459_470 | 632 | 974 | Topological domain | Extracellular |
| Tgene | TRPC5 | chrX:100603521 | chrX:111025366 | ENST00000262839 | - | 6 | 11 | 492_512 | 632 | 974 | Topological domain | Cytoplasmic |
| Tgene | TRPC5 | chrX:100603521 | chrX:111025366 | ENST00000262839 | - | 6 | 11 | 534_603 | 632 | 974 | Topological domain | Extracellular |
| Tgene | TRPC5 | chrX:100603521 | chrX:111025366 | ENST00000262839 | - | 6 | 11 | 625_973 | 632 | 974 | Topological domain | Cytoplasmic |
| Tgene | TRPC5 | chrX:100603521 | chrX:111025366 | ENST00000262839 | - | 6 | 11 | 331_351 | 632 | 974 | Transmembrane | Helical |
| Tgene | TRPC5 | chrX:100603521 | chrX:111025366 | ENST00000262839 | - | 6 | 11 | 399_419 | 632 | 974 | Transmembrane | Helical |
| Tgene | TRPC5 | chrX:100603521 | chrX:111025366 | ENST00000262839 | - | 6 | 11 | 438_458 | 632 | 974 | Transmembrane | Helical |
| Tgene | TRPC5 | chrX:100603521 | chrX:111025366 | ENST00000262839 | - | 6 | 11 | 471_491 | 632 | 974 | Transmembrane | Helical |
| Tgene | TRPC5 | chrX:100603521 | chrX:111025366 | ENST00000262839 | - | 6 | 11 | 513_533 | 632 | 974 | Transmembrane | Helical |
| Tgene | TRPC5 | chrX:100603521 | chrX:111025366 | ENST00000262839 | - | 6 | 11 | 604_624 | 632 | 974 | Transmembrane | Helical |
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FusionGeneSequence for TIMM8A_TRPC5 |
| 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. |
| >In-frame_TIMM8A_ENST00000372902_chrX_100603521_-_TRPC5_ENST00000262839_chrX_111025366_-_386aa MDSSSSSSAAGLGAVDPQLQHFIEVETQKQRFQQLVHQMTELCWDHADIEWKFARTKLWMSYFDEGGTLPPPFNIIPSPKSFLYLGNWFN NTFCPKRDPDGRRRRRNLRSFTERNADSLIQNQHYQEVIRNLVKRYVAAMIRNSKTHEGLTEENFKELKQDISSFRYEVLDLLGNRKHPR SFSTSSTELSQRDDNNDGSGGARAKSKSVSFNLGCKKKTCHGPPLIRTMPRSSGAQGKSKAESSSKRSFMGPSLKKLGLLFSKFNGHMSE PSSEPMYTISDGIVQQHCMWQDIRYSQMEKGKAEACSQSEINLSEVELGEVQGAAQSSECPLACSSSLHCASSICSSNSKLLDSSEDVFE |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| >In-frame_TIMM8A_ENST00000372902_chrX_100603521_-_TRPC5_ENST00000262839_chrX_111025366_-_1158nt ATGGATTCCTCCTCCTCTTCCTCCGCGGCGGGTTTGGGTGCAGTGGACCCGCAGTTGCAGCATTTCATCGAGGTAGAGACTCAAAAGCAG CGCTTCCAGCAGCTGGTGCACCAGATGACTGAACTTTGTTGGGATCATGCTGATATCGAGTGGAAGTTTGCAAGGACGAAGCTCTGGATG AGTTACTTTGATGAAGGTGGCACCTTGCCACCTCCTTTCAACATCATCCCCAGCCCCAAGTCATTTCTATACCTTGGTAACTGGTTCAAC AACACCTTCTGCCCCAAAAGAGACCCTGACGGTAGACGGAGAAGGCGCAACTTGAGAAGTTTCACAGAACGCAATGCTGACAGCCTGATA CAAAATCAACATTATCAGGAAGTTATCAGGAATTTAGTCAAAAGATATGTGGCTGCTATGATAAGAAATTCCAAAACACATGAGGGACTT ACAGAAGAAAATTTTAAGGAATTAAAGCAAGACATCTCCAGCTTTCGGTATGAAGTGCTTGACCTCTTGGGAAATAGAAAACATCCAAGG AGCTTTTCCACTAGCAGCACTGAACTGTCTCAGAGAGACGATAATAATGATGGCAGTGGTGGGGCTCGGGCCAAATCCAAGAGTGTCTCT TTTAATTTAGGCTGCAAGAAAAAGACTTGCCATGGGCCACCTCTCATCAGAACCATGCCAAGGTCCAGTGGTGCCCAAGGAAAGTCAAAA GCTGAGTCATCAAGCAAACGCTCCTTCATGGGTCCTTCTCTCAAGAAACTGGGTCTCCTATTCTCCAAATTTAATGGTCATATGTCTGAA CCCAGTTCAGAGCCAATGTACACAATTTCTGATGGAATTGTTCAGCAGCACTGTATGTGGCAGGACATCAGATATTCTCAGATGGAGAAA GGGAAAGCAGAGGCCTGTTCTCAAAGTGAAATTAACCTCAGTGAGGTAGAATTAGGTGAAGTCCAGGGCGCTGCTCAGAGCAGTGAATGC CCTCTAGCCTGTTCCAGCTCTCTTCACTGTGCATCCAGCATCTGCTCCTCAAATTCTAAACTTTTAGACTCCTCAGAGGATGTATTTGAA |
| * Fusion transcript sequences (Full-length transcript). |
| >In-frame_TIMM8A_ENST00000372902_chrX_100603521_-_TRPC5_ENST00000262839_chrX_111025366_-_3688nt TTCCCTACGTCGGGAGAGGAAAACTCCATCAAAAAACGAAAGCCAGGGGCCCAGGATAGCCAACTAATCGACCCAGTCAACTAACTGACC CAGTGCACAACTCTGGTAGCTCAGAAAACGCGGGCTAATTTGGAAGTGGACAGGGGCGGAGCTGTGGGGCCAGCACGGAATGGATCACGT GGTCTGAAGTAACTTCCTTTTCTCCTTTCTTTTCTTTTTGGAGTAACATCTCAACGGCACCTCGGCTCTGGGCTGTAAGCCCTGCGATCT CAAGGCGCAAGGCTGGGCGCAACGGCAGGGTTGCGGGGTTACGGGATTGCGGGGTCCGGGGAGTGGAACCCGCCGACTCCGGGAACGAAG CACCGGCGCCAAGGTGTGGGAGGCGGCGGGGTGGAGTTGGACGCCTGCCTCGCGCCGACGCAGTGCACTCACGGGGGCGGTCCCAGAGGC AGCTAGCTGTGGTTCCGGTTCCGTCGCGGAGACACGTGAAGGTCGGTGCGGAGTTCGTCTCTGCAAGCTTGGTCGCCCTGGGATGGATTC CTCCTCCTCTTCCTCCGCGGCGGGTTTGGGTGCAGTGGACCCGCAGTTGCAGCATTTCATCGAGGTAGAGACTCAAAAGCAGCGCTTCCA GCAGCTGGTGCACCAGATGACTGAACTTTGTTGGGATCATGCTGATATCGAGTGGAAGTTTGCAAGGACGAAGCTCTGGATGAGTTACTT TGATGAAGGTGGCACCTTGCCACCTCCTTTCAACATCATCCCCAGCCCCAAGTCATTTCTATACCTTGGTAACTGGTTCAACAACACCTT CTGCCCCAAAAGAGACCCTGACGGTAGACGGAGAAGGCGCAACTTGAGAAGTTTCACAGAACGCAATGCTGACAGCCTGATACAAAATCA ACATTATCAGGAAGTTATCAGGAATTTAGTCAAAAGATATGTGGCTGCTATGATAAGAAATTCCAAAACACATGAGGGACTTACAGAAGA AAATTTTAAGGAATTAAAGCAAGACATCTCCAGCTTTCGGTATGAAGTGCTTGACCTCTTGGGAAATAGAAAACATCCAAGGAGCTTTTC CACTAGCAGCACTGAACTGTCTCAGAGAGACGATAATAATGATGGCAGTGGTGGGGCTCGGGCCAAATCCAAGAGTGTCTCTTTTAATTT AGGCTGCAAGAAAAAGACTTGCCATGGGCCACCTCTCATCAGAACCATGCCAAGGTCCAGTGGTGCCCAAGGAAAGTCAAAAGCTGAGTC ATCAAGCAAACGCTCCTTCATGGGTCCTTCTCTCAAGAAACTGGGTCTCCTATTCTCCAAATTTAATGGTCATATGTCTGAACCCAGTTC AGAGCCAATGTACACAATTTCTGATGGAATTGTTCAGCAGCACTGTATGTGGCAGGACATCAGATATTCTCAGATGGAGAAAGGGAAAGC AGAGGCCTGTTCTCAAAGTGAAATTAACCTCAGTGAGGTAGAATTAGGTGAAGTCCAGGGCGCTGCTCAGAGCAGTGAATGCCCTCTAGC CTGTTCCAGCTCTCTTCACTGTGCATCCAGCATCTGCTCCTCAAATTCTAAACTTTTAGACTCCTCAGAGGATGTATTTGAAACTTGGGG AGAGGCTTGTGACTTGCTCATGCACAAATGGGGTGATGGACAGGAAGAACAAGTTACAACTCGCCTCTAAGTCAAGCCCTAATCATCTGT TCTGGAACTCAACAGAAATCTGTAATTTCCTTGCTCTCAGAGGTGACACAGAATATGATTCCCTCACTGCCCCTGCCCCCCAGAAAGGAG AGTGAAACTCTTATTTGCACCATCTTTTATAGCCACATTCTCCATTTTTGTTCTTGTTTTATTATTACTTTCATTATTATTTGCCTTTTT AATACCTATACACACTAAGTCCATCTTACAACCGACTGAAGGGGTGTTGCACCTAATCATCAGAGGTGCAGTTGGGTGCTTAACCTTTTT GCTTTGCTTTTCTCACCCATGCTTCCTTGAAGCCCCAGGTGCCACTTTGCTGGTCTTGTTGCCGCACAGATTCCTGACCATCCTCAGAAT CTCATGCCATTTTCCCGCAGAGCTGAGGGATGTGGTCAGCAGTCCCCACCAGCTATCAGATAAGGCAAACTACCCTGCCCATCTTTGTTG CCATTCAGTGCTACGCGCTGCCCATGCTGGGTCAATGAACAGCATCAAAGGGAGGCTGAAGAGATTTCAAAGAATTGTCAGCTTGTGGTT TCTGGGTATAAGTGGCTTGTTTCGTTCTTAAATACTACAACTTCTTATTGTGGGGGCTATTGAGTTTTCTTGTTTCTTAAAGATGTGTTA GTTTCCTAATGTGTGCCAATGAAATATTTACCCCATAGTATATGTCATATCTAATAAGTTAGGCGAATTATTTTTCTGTTTGTGTGTTTC AGTTAACTTACTACATTTGAAAATTTGATAGTATCAAAATTAGTATTTAGAATTTGTGCTATTTTTTAAAAACATCTACTACACTCTAAC CAATAGTCACTACATCTCATACATTGGCAAGATAAATAGTTGTCATATTTGTTGGGTCCTATTCTACTGTTGATAGTTTTAATTATCATT GCTATCAAATAATTTCTAAGATAAAAGCCTGAATTTGAAATATTTTTATCAGAAAAATGGCATATTGCTGAAGTGTCAAAATATGAGAAA AGAGCATCTTCATTTTAATTAACTGCTTTATAAAAATGGCAACTTTAGGTATAGATAACCTAATTCAGGTTGCAGTTTTAATATTCATTG GGGGCAGTGGAATTGCATGTGTAAATTATGTTAGATATATATCATAACAACCCTAGTGGATTCATGGAATTATAAACGTGATCCAAATTC TACTGTCTTCCAAGAAAGCTACATTTATACATCCAAACAAATTCTTTTCCACAGCTTAAGAGTACCTCATCAGAATACAGTGGTTCAAGT TAAAAAATAAAGTCCATAATGCATATGGTCATCATTCTAGACCTGATAACCACTGAGAACCTGCTGAGCAAGGACGGCTTTTACCAACAT TAGCACAAAGGTTTCCTCAGTTTAGACTCTAACATATGACCTGAAACAACTCTAGGTCTGAGTCCTAGAGATTACATAAATAGTGTGTAG CCCAGAAAAGTAAAATAGGTGTCACGCTGTTTTTTTTAATGTCAACACCAATAGGAATCCATTTAGATTAATGTATGTAATTTCTGATAA AAGTAAGAGAAATGAGGAACTTTCGAACTGCAAATATGCCTCCAAACTAGCTTTTGATAAGTGTGGTTTCTGTTATTTGAATGGATTCCC ATCTTTGTCTCTAGCCTGGAGAAGAGCAAAATGGAGGGGGAGGGGCCAGAAATAGGAGGAGGTTTTGAAGAATAAAGCCTCATATCCAGG AAAAAGTGATCAAGTGAAAAAGCTGCATCAAGACCCATTTGGCAAGAGGTTGTCCGAAAATAATTCCTTGATCATATCTGAAGTGGTTAT TTACTCAAATCAATTTCTCCCCTGCTTCGCTAAGACTGTCATAAAATGGCCTTGACATTTAATCACAGGTTACTTTCCAGAAAGGTTTCT |
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FusionGenePPI for TIMM8A_TRPC5 |
| 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 |
| TIMM8A | STAM, TIMM13, JOSD1, USP30, UBE2L6, KRT15, STAM2, TIMM10, CDA, TIMM9, TIMMDC1, XRCC3, CDT1, YBEY | TRPC5 | HOMER1, HOMER3, ITPR1, STMN3, STMN1, STMN2, STMN4, TRPC6, TRPC3, TRPC1, TRPC4, ITPR3, TERF1, TERF2, TRPC4AP, TNFRSF1A, TAF9, SEC24B |
| - 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 TIMM8A_TRPC5 |
| 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 TIMM8A_TRPC5 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | TIMM8A | C0796074 | MOHR-TRANEBJAERG SYNDROME | 2 | CTD_human;ORPHANET;UNIPROT |
| Hgene | TIMM8A | C1839564 | Jensen syndrome | 1 | CTD_human |
| Tgene | TRPC5 | C0020538 | Hypertensive disease | 1 | CTD_human |
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