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Fusion gene ID: 38110 |
FusionGeneSummary for TIMM8A_CAST |
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Fusion gene information | Fusion gene name: TIMM8A_CAST | Fusion gene ID: 38110 | Hgene | Tgene | Gene symbol | TIMM8A | CAST | Gene ID | 1678 | 26059 |
Gene name | translocase of inner mitochondrial membrane 8A | ELKS/RAB6-interacting/CAST family member 2 | |
Synonyms | DDP|DDP1|DFN1|MTS|TIM8 | CAST|CAST1|ELKSL|SPBC110|Spc110 | |
Cytomap | Xq22.1 | 3p14.3 | |
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 | ERC protein 2CAZ-associated structural proteincytomatrix protein p110 | |
Modification date | 20180519 | 20180519 | |
UniProtAcc | O60220 | P20810 | |
Ensembl transtripts involved in fusion gene | ENST00000372902, ENST00000480575, | ENST00000338252, ENST00000508830, ENST00000359176, ENST00000395812, ENST00000325674, ENST00000395813, ENST00000510756, ENST00000508608, ENST00000341926, ENST00000511049, ENST00000309190, ENST00000509903, ENST00000511782, ENST00000504465, ENST00000348386, ENST00000508579, ENST00000515663, | |
Fusion gene scores | * DoF score | 2 X 1 X 2=4 | 10 X 9 X 6=540 |
# samples | 2 | 12 | |
** MAII score | log2(2/4*10)=2.32192809488736 | log2(12/540*10)=-2.16992500144231 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: TIMM8A [Title/Abstract] AND CAST [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 |
![]() (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 | SARC | TCGA-KD-A5QU-01A | TIMM8A | chrX | 100603521 | - | CAST | chr5 | 96011243 | + |
* 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 | ENST00000372902 | ENST00000338252 | TIMM8A | chrX | 100603521 | - | CAST | chr5 | 96011243 | + |
5CDS-5UTR | ENST00000372902 | ENST00000508830 | TIMM8A | chrX | 100603521 | - | CAST | chr5 | 96011243 | + |
5CDS-5UTR | ENST00000372902 | ENST00000359176 | TIMM8A | chrX | 100603521 | - | CAST | chr5 | 96011243 | + |
5CDS-5UTR | ENST00000372902 | ENST00000395812 | TIMM8A | chrX | 100603521 | - | CAST | chr5 | 96011243 | + |
5CDS-5UTR | ENST00000372902 | ENST00000325674 | TIMM8A | chrX | 100603521 | - | CAST | chr5 | 96011243 | + |
5CDS-5UTR | ENST00000372902 | ENST00000395813 | TIMM8A | chrX | 100603521 | - | CAST | chr5 | 96011243 | + |
5CDS-5UTR | ENST00000372902 | ENST00000510756 | TIMM8A | chrX | 100603521 | - | CAST | chr5 | 96011243 | + |
5CDS-5UTR | ENST00000372902 | ENST00000508608 | TIMM8A | chrX | 100603521 | - | CAST | chr5 | 96011243 | + |
5CDS-intron | ENST00000372902 | ENST00000341926 | TIMM8A | chrX | 100603521 | - | CAST | chr5 | 96011243 | + |
5CDS-intron | ENST00000372902 | ENST00000511049 | TIMM8A | chrX | 100603521 | - | CAST | chr5 | 96011243 | + |
5CDS-intron | ENST00000372902 | ENST00000309190 | TIMM8A | chrX | 100603521 | - | CAST | chr5 | 96011243 | + |
5CDS-intron | ENST00000372902 | ENST00000509903 | TIMM8A | chrX | 100603521 | - | CAST | chr5 | 96011243 | + |
5CDS-intron | ENST00000372902 | ENST00000511782 | TIMM8A | chrX | 100603521 | - | CAST | chr5 | 96011243 | + |
5CDS-intron | ENST00000372902 | ENST00000504465 | TIMM8A | chrX | 100603521 | - | CAST | chr5 | 96011243 | + |
5CDS-intron | ENST00000372902 | ENST00000348386 | TIMM8A | chrX | 100603521 | - | CAST | chr5 | 96011243 | + |
5CDS-intron | ENST00000372902 | ENST00000508579 | TIMM8A | chrX | 100603521 | - | CAST | chr5 | 96011243 | + |
5CDS-intron | ENST00000372902 | ENST00000515663 | TIMM8A | chrX | 100603521 | - | CAST | chr5 | 96011243 | + |
5UTR-5UTR | ENST00000480575 | ENST00000338252 | TIMM8A | chrX | 100603521 | - | CAST | chr5 | 96011243 | + |
5UTR-5UTR | ENST00000480575 | ENST00000508830 | TIMM8A | chrX | 100603521 | - | CAST | chr5 | 96011243 | + |
5UTR-5UTR | ENST00000480575 | ENST00000359176 | TIMM8A | chrX | 100603521 | - | CAST | chr5 | 96011243 | + |
5UTR-5UTR | ENST00000480575 | ENST00000395812 | TIMM8A | chrX | 100603521 | - | CAST | chr5 | 96011243 | + |
5UTR-5UTR | ENST00000480575 | ENST00000325674 | TIMM8A | chrX | 100603521 | - | CAST | chr5 | 96011243 | + |
5UTR-5UTR | ENST00000480575 | ENST00000395813 | TIMM8A | chrX | 100603521 | - | CAST | chr5 | 96011243 | + |
5UTR-5UTR | ENST00000480575 | ENST00000510756 | TIMM8A | chrX | 100603521 | - | CAST | chr5 | 96011243 | + |
5UTR-5UTR | ENST00000480575 | ENST00000508608 | TIMM8A | chrX | 100603521 | - | CAST | chr5 | 96011243 | + |
5UTR-intron | ENST00000480575 | ENST00000341926 | TIMM8A | chrX | 100603521 | - | CAST | chr5 | 96011243 | + |
5UTR-intron | ENST00000480575 | ENST00000511049 | TIMM8A | chrX | 100603521 | - | CAST | chr5 | 96011243 | + |
5UTR-intron | ENST00000480575 | ENST00000309190 | TIMM8A | chrX | 100603521 | - | CAST | chr5 | 96011243 | + |
5UTR-intron | ENST00000480575 | ENST00000509903 | TIMM8A | chrX | 100603521 | - | CAST | chr5 | 96011243 | + |
5UTR-intron | ENST00000480575 | ENST00000511782 | TIMM8A | chrX | 100603521 | - | CAST | chr5 | 96011243 | + |
5UTR-intron | ENST00000480575 | ENST00000504465 | TIMM8A | chrX | 100603521 | - | CAST | chr5 | 96011243 | + |
5UTR-intron | ENST00000480575 | ENST00000348386 | TIMM8A | chrX | 100603521 | - | CAST | chr5 | 96011243 | + |
5UTR-intron | ENST00000480575 | ENST00000508579 | TIMM8A | chrX | 100603521 | - | CAST | chr5 | 96011243 | + |
5UTR-intron | ENST00000480575 | ENST00000515663 | TIMM8A | chrX | 100603521 | - | CAST | chr5 | 96011243 | + |
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FusionProtFeatures for TIMM8A_CAST |
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Hgene | Tgene |
TIMM8A | CAST |
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}. |
![]() * 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 TIMM8A_CAST |
![]() (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 TIMM8A_CAST |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
TIMM8A | STAM, TIMM13, JOSD1, USP30, UBE2L6, KRT15, STAM2, TIMM10, CDA, TIMM9, TIMMDC1, XRCC3, CDT1, YBEY | CAST | CAPN1, KIAA0101, ELAVL1, PSIP1, COPS4, COPS5, CUL4A, EPB41L1, KIF5B, LRBA, PSMA6, PSMB3, PSMB5, PSMB7, RPP38, SART3, SMEK1, PSMA5, FNTB, CAPNS2, NUDC, CKB, CRK, LZIC, PPME1, BAG6, CDH1, CAPN8, MTUS2 |
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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 TIMM8A_CAST |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Tgene | CAST | P20810 | DB11638 | Artenimol | Calpastatin | small molecule | approved|investigational |
Tgene | CAST | P20810 | DB01373 | Calcium | Calpastatin | small molecule | approved|nutraceutical |
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RelatedDiseases for TIMM8A_CAST |
![]() (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 | CAST | C0027540 | Necrosis | 1 | CTD_human |
Tgene | CAST | C0162557 | Liver Failure, Acute | 1 | CTD_human |