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Fusion gene ID: 40004 |
FusionGeneSummary for TTC7B_HTRA3 |
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Fusion gene information | Fusion gene name: TTC7B_HTRA3 | Fusion gene ID: 40004 | Hgene | Tgene | Gene symbol | TTC7B | HTRA3 | Gene ID | 145567 | 94031 |
Gene name | tetratricopeptide repeat domain 7B | HtrA serine peptidase 3 | |
Synonyms | TTC7L1|c14_5685 | Prsp|Tasp | |
Cytomap | 14q32.11 | 4p16.1 | |
Type of gene | protein-coding | protein-coding | |
Description | tetratricopeptide repeat protein 7BTPR repeat protein 7-like-1TPR repeat protein 7Btetratricopeptide repeat domain 7 like 1tetratricopeptide repeat protein 7-like-1 | serine protease HTRA3high-temperature requirement factor A3pregnancy-related serine proteaseprobable serine protease HTRA3 | |
Modification date | 20180523 | 20180519 | |
UniProtAcc | Q86TV6 | P83110 | |
Ensembl transtripts involved in fusion gene | ENST00000357056, ENST00000328459, ENST00000554654, | ENST00000307358, ENST00000382512, | |
Fusion gene scores | * DoF score | 9 X 9 X 7=567 | 2 X 2 X 3=12 |
# samples | 10 | 3 | |
** MAII score | log2(10/567*10)=-2.5033487351675 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). 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: TTC7B [Title/Abstract] AND HTRA3 [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 | TTC7B | GO:0046854 | phosphatidylinositol phosphorylation | 23229899|26571211 |
Hgene | TTC7B | GO:0072659 | protein localization to plasma membrane | 23229899|26571211 |
Tgene | HTRA3 | GO:0006508 | proteolysis | 18387192|22229724 |
![]() (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 | RV | UCS | TCGA-N5-A4RV-01A | TTC7B | chr14 | 91211136 | - | HTRA3 | chr4 | 8284164 | + |
* 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 |
Frame-shift | ENST00000357056 | ENST00000307358 | TTC7B | chr14 | 91211136 | - | HTRA3 | chr4 | 8284164 | + |
Frame-shift | ENST00000357056 | ENST00000382512 | TTC7B | chr14 | 91211136 | - | HTRA3 | chr4 | 8284164 | + |
Frame-shift | ENST00000328459 | ENST00000307358 | TTC7B | chr14 | 91211136 | - | HTRA3 | chr4 | 8284164 | + |
Frame-shift | ENST00000328459 | ENST00000382512 | TTC7B | chr14 | 91211136 | - | HTRA3 | chr4 | 8284164 | + |
intron-3CDS | ENST00000554654 | ENST00000307358 | TTC7B | chr14 | 91211136 | - | HTRA3 | chr4 | 8284164 | + |
intron-3CDS | ENST00000554654 | ENST00000382512 | TTC7B | chr14 | 91211136 | - | HTRA3 | chr4 | 8284164 | + |
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FusionProtFeatures for TTC7B_HTRA3 |
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Hgene | Tgene |
TTC7B | HTRA3 |
Component of a complex required to localizephosphatidylinositol 4-kinase (PI4K) to the plasma membrane. Thecomplex acts as a regulator of phosphatidylinositol 4-phosphate(PtdIns(4)P) synthesis. In the complex, plays a central role inbridging PI4KA to EFR3B and FAM126A, via direct interactions(PubMed:26571211). {ECO:0000269|PubMed:23229899,ECO:0000269|PubMed:26571211}. | Serine protease that cleaves beta-casein/CSN2 as well asseveral extracellular matrix (ECM) proteoglycans such asdecorin/DCN, biglycan/BGN and fibronectin/FN1. Inhibits signalingmediated by TGF-beta family proteins possibly indirectly bydegradation of these ECM proteoglycans (By similarity). May act asa tumor suppressor. Negatively regulates, in vitro, trophoblastinvasion during placental development and may be involved in thedevelopment of the placenta in vivo. May also have a role inovarian development, granulosa cell differentiation andluteinization (PubMed:21321049, PubMed:22229724).{ECO:0000250|UniProtKB:Q9D236, ECO:0000269|PubMed:21321049,ECO:0000269|PubMed:22229724}. |
![]() * 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 TTC7B_HTRA3 |
![]() (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 TTC7B_HTRA3 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
TTC7B | CUL3, CTDSPL, RGS20 | HTRA3 | TMEM25 |
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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 TTC7B_HTRA3 |
![]() (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 TTC7B_HTRA3 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |