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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 16945

FusionGeneSummary for HTRA1_KIAA0040

check button Fusion gene summary
Fusion gene informationFusion gene name: HTRA1_KIAA0040
Fusion gene ID: 16945
HgeneTgene
Gene symbol

HTRA1

KIAA0040

Gene ID

5654

9674

Gene nameHtrA serine peptidase 1KIAA0040
SynonymsARMD7|CADASIL2|CARASIL|HtrA|L56|ORF480|PRSS11-
Cytomap

10q26.13

1q25.1

Type of geneprotein-codingprotein-coding
Descriptionserine protease HTRA1IGFBP5-proteasehigh-temperature requirement A serine peptidase 1protease, serine, 11 (IGF binding)uncharacterized protein KIAA0040
Modification date2018052720180519
UniProtAcc

Q92743

Ensembl transtripts involved in fusion geneENST00000368984, ENST00000423313, 
ENST00000444639, ENST00000545251, 
ENST00000567124, 
Fusion gene scores* DoF score4 X 4 X 4=642 X 2 X 2=8
# samples 42
** MAII scorelog2(4/64*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(2/8*10)=1.32192809488736
Context

PubMed: HTRA1 [Title/Abstract] AND KIAA0040 [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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID

check button 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 typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChiTaRS3.1BQ183447HTRA1chr10

124274255

-KIAA0040chr1

175127166

+
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button 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.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
3UTR-3UTRENST00000368984ENST00000423313HTRA1chr10

124274255

-KIAA0040chr1

175127166

+
3UTR-3UTRENST00000368984ENST00000444639HTRA1chr10

124274255

-KIAA0040chr1

175127166

+
3UTR-intronENST00000368984ENST00000545251HTRA1chr10

124274255

-KIAA0040chr1

175127166

+
3UTR-intronENST00000368984ENST00000567124HTRA1chr10

124274255

-KIAA0040chr1

175127166

+

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FusionProtFeatures for HTRA1_KIAA0040


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
HTRA1

Q92743

KIAA0040

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}. Lectin that binds to various sugars: galactose > mannose= fucose > N-acetylglucosamine > N-acetylgalactosamine(PubMed:10224141). Acts as a chemoattractant, probably involved inthe regulation of cell migration (PubMed:28301481).{ECO:0000269|PubMed:10224141, ECO:0000269|PubMed:28301481}.

check buttonRetention 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

download page

.

* 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.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for HTRA1_KIAA0040


check button 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.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for HTRA1_KIAA0040


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page

.

check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for HTRA1_KIAA0040


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for HTRA1_KIAA0040


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneHTRA1C1838577Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy1ORPHANET;UNIPROT
HgeneHTRA1C4225211CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 21UNIPROT
TgeneKIAA0040C0001973Alcoholic Intoxication, Chronic3PSYGENET