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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: 16088

FusionGeneSummary for HEPHL1_GUCY1A2

check button Fusion gene summary
Fusion gene informationFusion gene name: HEPHL1_GUCY1A2
Fusion gene ID: 16088
HgeneTgene
Gene symbol

HEPHL1

GUCY1A2

Gene ID

341208

2977

Gene namehephaestin like 1guanylate cyclase 1 soluble subunit alpha 2
Synonyms-GC-SA2|GUC1A2
Cytomap

11q21

11q22.3

Type of geneprotein-codingprotein-coding
Descriptionhephaestin-like protein 1guanylate cyclase soluble subunit alpha-2GCS-alpha-2guanylate cyclase 1, soluble, alpha 2
Modification date2018052320180522
UniProtAcc

Q6MZM0

P33402

Ensembl transtripts involved in fusion geneENST00000315765, ENST00000526355, 
ENST00000282249, ENST00000347596, 
Fusion gene scores* DoF score2 X 2 X 2=84 X 2 X 3=24
# samples 24
** MAII scorelog2(2/8*10)=1.32192809488736log2(4/24*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: HEPHL1 [Title/Abstract] AND GUCY1A2 [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
TCGARVHNSCTCGA-P3-A6T5-01AHEPHL1chr11

93797676

+GUCY1A2chr11

106856857

-
* 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
Frame-shiftENST00000315765ENST00000526355HEPHL1chr11

93797676

+GUCY1A2chr11

106856857

-
Frame-shiftENST00000315765ENST00000282249HEPHL1chr11

93797676

+GUCY1A2chr11

106856857

-
Frame-shiftENST00000315765ENST00000347596HEPHL1chr11

93797676

+GUCY1A2chr11

106856857

-

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FusionProtFeatures for HEPHL1_GUCY1A2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
HEPHL1

Q6MZM0

GUCY1A2

P33402

May function as a ferroxidase and may be involved incopper transport and homeostasis. {ECO:0000250}. Has guanylyl cyclase on binding to the beta-1 subunit. Isoform 2 acts as a negative regulator of guanylylcyclase activity as it forms non-functional heterodimers with thebeta subunits.

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 HEPHL1_GUCY1A2


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 HEPHL1_GUCY1A2


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
HEPHL1TEX35, COASY, VTI1B, PMM1, RAB11B, OR51E2, TFG, DOLPP1, SGOL2, LACC1, APIP, PYHIN1, FBXL4, IL31RA, MRPL38, KIF3A, NSMAF, OAZ3, RPN2, ZMAT4, SEMG2, TBC1D14, CPLX3, SETDB2, GPBP1GUCY1A2GUCY1B3, DLG1, DLG2, DLG3, DLG4, STUB1, HSPA4, HSP90AA1, ERBB2IP, SNTA1, LIN7A, SCRIB


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 HEPHL1_GUCY1A2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneGUCY1A2P33402DB00435Nitric OxideGuanylate cyclase soluble subunit alpha-2small moleculeapproved
TgeneGUCY1A2P33402DB01020Isosorbide MononitrateGuanylate cyclase soluble subunit alpha-2small moleculeapproved
TgeneGUCY1A2P33402DB08931RiociguatGuanylate cyclase soluble subunit alpha-2small moleculeapproved
TgeneGUCY1A2P33402DB09241Methylene blueGuanylate cyclase soluble subunit alpha-2small moleculeapproved|investigational
TgeneGUCY1A2P33402DB09282MolsidomineGuanylate cyclase soluble subunit alpha-2small moleculeapproved|investigational

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RelatedDiseases for HEPHL1_GUCY1A2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneGUCY1A2C0009404Colorectal Neoplasms2CTD_human
TgeneGUCY1A2C1458155Mammary Neoplasms1CTD_human