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Fusion gene ID: 38102 |
FusionGeneSummary for TIMM17B_SPINT1 |
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Fusion gene information | Fusion gene name: TIMM17B_SPINT1 | Fusion gene ID: 38102 | Hgene | Tgene | Gene symbol | TIMM17B | SPINT1 | Gene ID | 10245 | 6692 |
Gene name | translocase of inner mitochondrial membrane 17B | serine peptidase inhibitor, Kunitz type 1 | |
Synonyms | DXS9822|JM3|TIM17B | HAI|HAI1|MANSC2 | |
Cytomap | Xp11.23 | 15q15.1 | |
Type of gene | protein-coding | protein-coding | |
Description | mitochondrial import inner membrane translocase subunit Tim17-Binner mitochondrial membrane preprotein translocasetranslocase of inner mitochondrial membrane 17 homolog B | kunitz-type protease inhibitor 1HAI-1hepatocyte growth factor activator inhibitor type 1serine protease inhibitor, Kunitz type 1 | |
Modification date | 20180523 | 20180519 | |
UniProtAcc | O60830 | O43278 | |
Ensembl transtripts involved in fusion gene | ENST00000465150, ENST00000376582, ENST00000396779, ENST00000495490, ENST00000472645, | ENST00000562057, ENST00000344051, ENST00000431806, | |
Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 3 X 3 X 1=9 |
# samples | 3 | 5 | |
** MAII score | log2(3/1*10)=4.90689059560852 | log2(5/9*10)=2.47393118833241 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
Context | PubMed: TIMM17B [Title/Abstract] AND SPINT1 [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 |
ChiTaRS3.1 | BU676136 | TIMM17B | chrX | 48751045 | + | SPINT1 | chr15 | 41149567 | - | ||
ChiTaRS3.1 | CB250487 | TIMM17B | chrX | 48751045 | + | SPINT1 | chr15 | 41149567 | - | ||
ChiTaRS3.1 | BM968551 | TIMM17B | chrX | 48751045 | + | SPINT1 | chr15 | 41149567 | - |
* 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 |
intron-3UTR | ENST00000465150 | ENST00000562057 | TIMM17B | chrX | 48751045 | + | SPINT1 | chr15 | 41149567 | - |
intron-3UTR | ENST00000465150 | ENST00000344051 | TIMM17B | chrX | 48751045 | + | SPINT1 | chr15 | 41149567 | - |
intron-3UTR | ENST00000465150 | ENST00000431806 | TIMM17B | chrX | 48751045 | + | SPINT1 | chr15 | 41149567 | - |
intron-3UTR | ENST00000376582 | ENST00000562057 | TIMM17B | chrX | 48751045 | + | SPINT1 | chr15 | 41149567 | - |
intron-3UTR | ENST00000376582 | ENST00000344051 | TIMM17B | chrX | 48751045 | + | SPINT1 | chr15 | 41149567 | - |
intron-3UTR | ENST00000376582 | ENST00000431806 | TIMM17B | chrX | 48751045 | + | SPINT1 | chr15 | 41149567 | - |
intron-3UTR | ENST00000396779 | ENST00000562057 | TIMM17B | chrX | 48751045 | + | SPINT1 | chr15 | 41149567 | - |
intron-3UTR | ENST00000396779 | ENST00000344051 | TIMM17B | chrX | 48751045 | + | SPINT1 | chr15 | 41149567 | - |
intron-3UTR | ENST00000396779 | ENST00000431806 | TIMM17B | chrX | 48751045 | + | SPINT1 | chr15 | 41149567 | - |
intron-3UTR | ENST00000495490 | ENST00000562057 | TIMM17B | chrX | 48751045 | + | SPINT1 | chr15 | 41149567 | - |
intron-3UTR | ENST00000495490 | ENST00000344051 | TIMM17B | chrX | 48751045 | + | SPINT1 | chr15 | 41149567 | - |
intron-3UTR | ENST00000495490 | ENST00000431806 | TIMM17B | chrX | 48751045 | + | SPINT1 | chr15 | 41149567 | - |
intron-3UTR | ENST00000472645 | ENST00000562057 | TIMM17B | chrX | 48751045 | + | SPINT1 | chr15 | 41149567 | - |
intron-3UTR | ENST00000472645 | ENST00000344051 | TIMM17B | chrX | 48751045 | + | SPINT1 | chr15 | 41149567 | - |
intron-3UTR | ENST00000472645 | ENST00000431806 | TIMM17B | chrX | 48751045 | + | SPINT1 | chr15 | 41149567 | - |
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FusionProtFeatures for TIMM17B_SPINT1 |
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Hgene | Tgene |
TIMM17B | SPINT1 |
Essential component of the TIM23 complex, a complex thatmediates the translocation of transit peptide-containing proteinsacross the mitochondrial inner membrane. | Inhibitor of HGF activator. Also acts as an inhibitor ofmatriptase (ST14). |
![]() * 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 TIMM17B_SPINT1 |
![]() (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 TIMM17B_SPINT1 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
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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 TIMM17B_SPINT1 |
![]() (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 TIMM17B_SPINT1 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |