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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: 25903

FusionGeneSummary for PANX1_HEPHL1

check button Fusion gene summary
Fusion gene informationFusion gene name: PANX1_HEPHL1
Fusion gene ID: 25903
HgeneTgene
Gene symbol

PANX1

HEPHL1

Gene ID

24145

341208

Gene namepannexin 1hephaestin like 1
SynonymsMRS1|PX1|UNQ2529-
Cytomap

11q21

11q21

Type of geneprotein-codingprotein-coding
Descriptionpannexin-1innexinhephaestin-like protein 1
Modification date2018052320180523
UniProtAcc

Q96RD7

Q6MZM0

Ensembl transtripts involved in fusion geneENST00000227638, ENST00000436171, 
ENST00000315765, 
Fusion gene scores* DoF score4 X 4 X 3=481 X 2 X 1=2
# samples 82
** MAII scorelog2(8/48*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(2/2*10)=3.32192809488736
Context

PubMed: PANX1 [Title/Abstract] AND HEPHL1 [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
HgenePANX1

GO:0006812

cation transport

17036048

HgenePANX1

GO:0034214

protein hexamerization

17715132

HgenePANX1

GO:0050718

positive regulation of interleukin-1 beta secretion

17036048


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-CV-7247-01APANX1chr11

93862659

+HEPHL1chr11

93826667

+
TCGARVHNSCTCGA-CQ-5332-01APANX1chr11

93862659

+HEPHL1chr11

93844703

+
* 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-shiftENST00000227638ENST00000315765PANX1chr11

93862659

+HEPHL1chr11

93826667

+
Frame-shiftENST00000436171ENST00000315765PANX1chr11

93862659

+HEPHL1chr11

93826667

+
In-frameENST00000227638ENST00000315765PANX1chr11

93862659

+HEPHL1chr11

93844703

+
In-frameENST00000436171ENST00000315765PANX1chr11

93862659

+HEPHL1chr11

93844703

+

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FusionProtFeatures for PANX1_HEPHL1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PANX1

Q96RD7

HEPHL1

Q6MZM0

Structural component of the gap junctions and thehemichannels. May play a role as a Ca(2+)-leak channel to regulateER Ca(2+) homeostasis. {ECO:0000269|PubMed:16908669,ECO:0000269|PubMed:20829356}. May function as a ferroxidase and may be involved incopper transport and homeostasis. {ECO:0000250}.

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
HgenePANX1chr11:93862659chr11:93844703ENST00000227638+151_4060427Topological domainCytoplasmic
HgenePANX1chr11:93862659chr11:93844703ENST00000436171+151_4060423Topological domainCytoplasmic
HgenePANX1chr11:93862659chr11:93844703ENST00000227638+1541_6160427TransmembraneHelical
HgenePANX1chr11:93862659chr11:93844703ENST00000436171+1541_6160423TransmembraneHelical
TgeneHEPHL1chr11:93862659chr11:93844703ENST00000315765+17201124_112710691160Compositional biasNote=Poly-Leu
TgeneHEPHL1chr11:93862659chr11:93844703ENST00000315765+17201136_115910691160Topological domainCytoplasmic
TgeneHEPHL1chr11:93862659chr11:93844703ENST00000315765+17201115_113510691160TransmembraneHelical

- In-frame and not-retained protein feature among the 13 regional features.
>>>>>>>>>>>>>>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgenePANX1chr11:93862659chr11:93844703ENST00000227638+15128_21760427Topological domainCytoplasmic
HgenePANX1chr11:93862659chr11:93844703ENST00000227638+15239_26660427Topological domainExtracellular
HgenePANX1chr11:93862659chr11:93844703ENST00000227638+15288_42660427Topological domainCytoplasmic
HgenePANX1chr11:93862659chr11:93844703ENST00000227638+1562_10660427Topological domainExtracellular
HgenePANX1chr11:93862659chr11:93844703ENST00000436171+15128_21760423Topological domainCytoplasmic
HgenePANX1chr11:93862659chr11:93844703ENST00000436171+15239_26660423Topological domainExtracellular
HgenePANX1chr11:93862659chr11:93844703ENST00000436171+15288_42660423Topological domainCytoplasmic
HgenePANX1chr11:93862659chr11:93844703ENST00000436171+1562_10660423Topological domainExtracellular
HgenePANX1chr11:93862659chr11:93844703ENST00000227638+15107_12760427TransmembraneHelical
HgenePANX1chr11:93862659chr11:93844703ENST00000227638+15218_23860427TransmembraneHelical
HgenePANX1chr11:93862659chr11:93844703ENST00000227638+15267_28760427TransmembraneHelical
HgenePANX1chr11:93862659chr11:93844703ENST00000436171+15107_12760423TransmembraneHelical
HgenePANX1chr11:93862659chr11:93844703ENST00000436171+15218_23860423TransmembraneHelical
HgenePANX1chr11:93862659chr11:93844703ENST00000436171+15267_28760423TransmembraneHelical
TgeneHEPHL1chr11:93862659chr11:93844703ENST00000315765+1720218_36610691160DomainNote=Plastocyanin-like 2
TgeneHEPHL1chr11:93862659chr11:93844703ENST00000315765+172025_20710691160DomainNote=Plastocyanin-like 1
TgeneHEPHL1chr11:93862659chr11:93844703ENST00000315765+1720379_56110691160DomainNote=Plastocyanin-like 3
TgeneHEPHL1chr11:93862659chr11:93844703ENST00000315765+1720571_71910691160DomainNote=Plastocyanin-like 4
TgeneHEPHL1chr11:93862659chr11:93844703ENST00000315765+1720731_90710691160DomainNote=Plastocyanin-like 5
TgeneHEPHL1chr11:93862659chr11:93844703ENST00000315765+1720915_109210691160DomainNote=Plastocyanin-like 6
TgeneHEPHL1chr11:93862659chr11:93844703ENST00000315765+172025_111410691160Topological domainExtracellular


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FusionGeneSequence for PANX1_HEPHL1


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 PANX1_HEPHL1


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
PANX1GNAS, C4orf3, TMEM17, BAG3, CDC37, FBXO7, NF2, HTR3A, GRPR, C5AR2HEPHL1TEX35, COASY, VTI1B, PMM1, RAB11B, OR51E2, TFG, DOLPP1, SGOL2, LACC1, APIP, PYHIN1, FBXL4, IL31RA, MRPL38, KIF3A, NSMAF, OAZ3, RPN2, ZMAT4, SEMG2, TBC1D14, CPLX3, SETDB2, GPBP1


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 PANX1_HEPHL1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgenePANX1Q96RD7DB01032ProbenecidPannexin-1small moleculeapproved|investigational

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RelatedDiseases for PANX1_HEPHL1


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