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Fusion gene ID: 16942 |
FusionGeneSummary for HTRA1_ARMS2 |
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Fusion gene information | Fusion gene name: HTRA1_ARMS2 | Fusion gene ID: 16942 | Hgene | Tgene | Gene symbol | HTRA1 | ARMS2 | Gene ID | 5654 | 387715 |
Gene name | HtrA serine peptidase 1 | age-related maculopathy susceptibility 2 | |
Synonyms | ARMD7|CADASIL2|CARASIL|HtrA|L56|ORF480|PRSS11 | ARMD8 | |
Cytomap | 10q26.13 | 10q26.13 | |
Type of gene | protein-coding | protein-coding | |
Description | serine protease HTRA1IGFBP5-proteasehigh-temperature requirement A serine peptidase 1protease, serine, 11 (IGF binding) | age-related maculopathy susceptibility protein 2 | |
Modification date | 20180527 | 20180416 | |
UniProtAcc | Q92743 | P0C7Q2 | |
Ensembl transtripts involved in fusion gene | ENST00000368984, | ENST00000528446, | |
Fusion gene scores | * DoF score | 4 X 4 X 4=64 | 4 X 1 X 4=16 |
# samples | 4 | 4 | |
** MAII score | log2(4/64*10)=-0.678071905112638 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(4/16*10)=1.32192809488736 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
Context | PubMed: HTRA1 [Title/Abstract] AND ARMS2 [Title/Abstract] AND fusion [Title/Abstract] | ||
Functional or gene categories assigned by FusionGDB annotation | Tumor suppressor gene involved fusion gene, in-frame but not retained their domain. |
* 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 | LIHC | TCGA-XR-A8TG-01A | HTRA1 | chr10 | 124221640 | + | ARMS2 | chr10 | 124216423 | + |
* 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 |
In-frame | ENST00000368984 | ENST00000528446 | HTRA1 | chr10 | 124221640 | + | ARMS2 | chr10 | 124216423 | + |
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FusionProtFeatures for HTRA1_ARMS2 |
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Hgene | Tgene |
HTRA1 | ARMS2 |
Serine protease with a variety of targets, includingextracellular matrix proteins such as fibronectin. HTRA1-generatedfibronectin fragments further induce synovial cells to up-regulateMMP1 and MMP3 production. May also degrade proteoglycans, such asaggrecan, decorin and fibromodulin. Through cleavage ofproteoglycans, may release soluble FGF-glycosaminoglycan complexesthat promote the range and intensity of FGF signals in theextracellular space. Regulates the availability of insulin-likegrowth factors (IGFs) by cleaving IGF-binding proteins. Inhibitssignaling mediated by TGF-beta family members. This activityrequires the integrity of the catalytic site, although it isunclear whether TGF-beta proteins are themselves degraded. Byacting on TGF-beta signaling, may regulate many physiologicalprocesses, including retinal angiogenesis and neuronal survivaland maturation during development. Intracellularly, degrades TSC2,leading to the activation of TSC2 downstream targets.{ECO:0000269|PubMed:16377621, ECO:0000269|PubMed:20671064,ECO:0000269|PubMed:9852107}. |
![]() * 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 |
Hgene | HTRA1 | chr10:124221640 | chr10:124216423 | ENST00000368984 | + | 1 | 9 | 33_100 | 157 | 481 | Domain | IGFBP N-terminal |
Hgene | HTRA1 | chr10:124221640 | chr10:124216423 | ENST00000368984 | + | 1 | 9 | 98_157 | 157 | 481 | Domain | Kazal-like |
- 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 |
Hgene | >HTRA1 | chr10:124221640 | chr10:124216423 | ENST00000368984 | + | 1 | 9 | 365_467 | 157 | 481 | Domain | PDZ |
Hgene | >HTRA1 | chr10:124221640 | chr10:124216423 | ENST00000368984 | + | 1 | 9 | 204_364 | 157 | 481 | Region | Note=Serine protease |
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FusionGeneSequence for HTRA1_ARMS2 |
![]() (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 HTRA1_ARMS2 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
HTRA1 | XIAP, NOS3, APOE, FAM46A, CSNK2B, IMPDH1, TMEM25, GOLT1B, SPINK4, REG4, AVP, DEFB127, MGAT4C, C12orf49, DEFA5, FUT1, DKKL1, FAM107A | ARMS2 |
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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 HTRA1_ARMS2 |
![]() (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 HTRA1_ARMS2 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | HTRA1 | C1838577 | Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy | 1 | ORPHANET;UNIPROT |
Hgene | HTRA1 | C4225211 | CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 2 | 1 | UNIPROT |
Tgene | ARMS2 | C0242383 | Age related macular degeneration | 3 | CTD_human |