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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: 16924

FusionGeneSummary for HSPG2_MYBPHL

check button Fusion gene summary
Fusion gene informationFusion gene name: HSPG2_MYBPHL
Fusion gene ID: 16924
HgeneTgene
Gene symbol

HSPG2

MYBPHL

Gene ID

3339

343263

Gene nameheparan sulfate proteoglycan 2myosin binding protein H like
SynonymsHSPG|PLC|PRCAN|SJA|SJS|SJS1-
Cytomap

1p36.12

1p13.3

Type of geneprotein-codingprotein-coding
Descriptionbasement membrane-specific heparan sulfate proteoglycan core proteinendorepellin (domain V region)perlecan proteoglycanmyosin-binding protein H-like
Modification date2018052220180522
UniProtAcc

P98160

A2RUH7

Ensembl transtripts involved in fusion geneENST00000486901, ENST00000374695, 
ENST00000430507, 
ENST00000357155, 
ENST00000477962, 
Fusion gene scores* DoF score9 X 9 X 7=5673 X 2 X 3=18
# samples 103
** MAII scorelog2(10/567*10)=-2.5033487351675
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: HSPG2 [Title/Abstract] AND MYBPHL [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
TCGARVSTADTCGA-HU-A4HD-01AHSPG2chr1

22222415

-MYBPHLchr1

109836871

-
* 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
intron-3CDSENST00000486901ENST00000357155HSPG2chr1

22222415

-MYBPHLchr1

109836871

-
intron-5UTRENST00000486901ENST00000477962HSPG2chr1

22222415

-MYBPHLchr1

109836871

-
In-frameENST00000374695ENST00000357155HSPG2chr1

22222415

-MYBPHLchr1

109836871

-
5CDS-5UTRENST00000374695ENST00000477962HSPG2chr1

22222415

-MYBPHLchr1

109836871

-
intron-3CDSENST00000430507ENST00000357155HSPG2chr1

22222415

-MYBPHLchr1

109836871

-
intron-5UTRENST00000430507ENST00000477962HSPG2chr1

22222415

-MYBPHLchr1

109836871

-

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FusionProtFeatures for HSPG2_MYBPHL


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
HSPG2

P98160

MYBPHL

A2RUH7

Integral component of basement membranes. Component ofthe glomerular basement membrane (GBM), responsible for the fixednegative electrostatic membrane charge, and which provides abarrier which is both size- and charge-selective. It serves as anattachment substrate for cells. Plays essential roles invascularization. Critical for normal heart development and forregulating the vascular response to injury. Also required foravascular cartilage development. Endorepellin in an anti-angiogenic and anti-tumorpeptide that inhibits endothelial cell migration, collagen-inducedendothelial tube morphogenesis and blood vessel growth in thechorioallantoic membrane. Blocks endothelial cell adhesion tofibronectin and type I collagen. Anti-tumor agent inneovascularization. Interaction with its ligand, integrinalpha2/beta1, is required for the anti-angiogenic properties.Evokes a reduction in phosphorylation of receptor tyrosine kinasesvia alpha2/beta1 integrin-mediated activation of the tyrosinephosphatase, PTPN6. The LG3 peptide has anti-angiogenic properties thatrequire binding of calcium ions for full activity.

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 HSPG2_MYBPHL


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.
>In-frame_HSPG2_ENST00000374695_chr1_22222415_-_MYBPHL_ENST00000357155_chr1_109836871_-_85aa


* Fusion transcript sequences (only coding sequence (CDS) region).
>In-frame_HSPG2_ENST00000374695_chr1_22222415_-_MYBPHL_ENST00000357155_chr1_109836871_-_255nt
ATGGGGTGGCGGGCGGCGGGCGCGCTGCTGCTGGCGCTGCTGCTGCACGGGCGGCTGCTGGCGGTGACCCATGGGCTGAGGGCATACGAT
GGCTTGTCTCTGCCTGAGGACATAGAGACCGTCACAGCAAGCCAAATGCGCTGGACACATTCGTACCTTTCTGATGATGAGGACATGCTG


* Fusion transcript sequences (Full-length transcript).
>In-frame_HSPG2_ENST00000374695_chr1_22222415_-_MYBPHL_ENST00000357155_chr1_109836871_-_592nt
GGCCGGCGAGCGGGCGGCTGCGGGCGGCGCGGAGCGGGCGGCGCGGAGCGAGCGAGCGAGAGAGCGGCGCGGGCCGGGCCATGGGGTGGC
GGGCGGCGGGCGCGCTGCTGCTGGCGCTGCTGCTGCACGGGCGGCTGCTGGCGGTGACCCATGGGCTGAGGGCATACGATGGCTTGTCTC
TGCCTGAGGACATAGAGACCGTCACAGCAAGCCAAATGCGCTGGACACATTCGTACCTTTCTGATGATGAGGACATGCTGGCTGACAGCA
TCTCAGGAGACGACCTGGGCAGTGGGGACCTGGGCAGCGGGGACTTCCAGATGGTTCCTAATTGAGGACACCTAAGAAGGCATGGTACTC
TGACAAAGCCAGTGCCCAGCAATGAAGTGAATTCATGGCACAGGAGCCAGGGACCGTGACAACGGTGCCCTCAGCAGCCTGGTGTCCTCT
GGCCATTTGCTGTCATGGCTACAAAGTGCTCCCTCTTTTCAGTGCCTCCAGGAAGCCCGCCAGTGGTGAGACTGTGTCCTCAAGGAGCTT


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FusionGenePPI for HSPG2_MYBPHL


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
HSPG2FGF7, TTR, PRELP, FGFBP1, NID2, FN1, FBLN2, LAMA1, PDGFA, PDGFB, CACNA1A, ATN1, GFI1B, GRB2, FBXO6, TINAGL1, PSAT1, ADD1, TMPO, PTTG1, CCDC22, GAR1, KIF7, SKI, MCM2, ZNF408, UBC, TRIM25MYBPHLFHL3, ZDHHC17, GFPT2, TTC19, CASK, PLEKHA6, TENC1


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 HSPG2_MYBPHL


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneHSPG2P98160DB00039PaliferminBasement membrane-specific heparan sulfate proteoglycan core proteinbiotechapproved

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RelatedDiseases for HSPG2_MYBPHL


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneHSPG2C0029422Osteochondrodysplasias2CTD_human;HPO
HgeneHSPG2C0036391Schwartz-Jampel Syndrome1ORPHANET;UNIPROT
HgeneHSPG2C0376634Craniofacial Abnormalities1CTD_human
HgeneHSPG2C1857100Dyssegmental dysplasia1CTD_human;ORPHANET