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Center for Computational Systems Medicine level1
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Fusion Gene Summary

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Fusion Gene Sample Information

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Fusion ORF Analysis

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Fusion Amino Acid Sequences

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Fusion Protein Functional Features

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Fusion Protein-Protein Interaction

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Related drugs with this fusion protein

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Related disease with this fusion protein

Fusion Protein:HCN1-SPEF2

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: HCN1-SPEF2
FusionPDB ID: 35780
FusionGDB2.0 ID: 35780
HgeneTgene
Gene symbol

HCN1

SPEF2

Gene ID

348980

79925

Gene namehyperpolarization activated cyclic nucleotide gated potassium channel 1sperm flagellar 2
SynonymsBCNG-1|BCNG1|EIEE24|GEFSP10|HAC-2CT122|KPL2|SPGF43
Cytomap

5p12

5p13.2

Type of geneprotein-codingprotein-coding
Descriptionpotassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 1brain cyclic nucleotide-gated channel 1sperm flagellar protein 2cancer/testis antigen 122testis tissue sperm-binding protein Li 47a
Modification date2020031320200313
UniProtAcc

O60741

.
Ensembl transtripts involved in fusion geneENST idsENST00000303230, ENST00000303129, 
ENST00000282469, ENST00000356031, 
ENST00000440995, ENST00000509059, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score2 X 2 X 2=88 X 10 X 12=960
# samples 216
** MAII scorelog2(2/8*10)=1.32192809488736log2(16/960*10)=-2.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: HCN1 [Title/Abstract] AND SPEF2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)HCN1(45645287)-SPEF2(35667174), # samples:2
Anticipated loss of major functional domain due to fusion event.HCN1-SPEF2 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
HCN1-SPEF2 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
HCN1-SPEF2 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
HCN1-SPEF2 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
* 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
HgeneHCN1

GO:0051289

protein homotetramerization

28086084

HgeneHCN1

GO:0071320

cellular response to cAMP

22748890


check buttonFusion gene breakpoints across HCN1 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check buttonFusion gene breakpoints across SPEF2 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure


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Fusion Gene Sample Information

check buttonFusion gene information from FusionGDB2.0.
check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4SKCMTCGA-D3-A1Q3-06AHCN1chr5

45645287

-SPEF2chr5

35667174

+


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Fusion ORF Analysis


check buttonFusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)
ENST00000303230HCN1chr545645287-ENST00000282469SPEF2chr535667174+2612907581284408
ENST00000303230HCN1chr545645287-ENST00000509059SPEF2chr535667174+4293907582571837
ENST00000303230HCN1chr545645287-ENST00000356031SPEF2chr535667174+52679075852081716
ENST00000303230HCN1chr545645287-ENST00000440995SPEF2chr535667174+57049075851961712

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score
ENST00000303230ENST00000282469HCN1chr545645287-SPEF2chr535667174+0.0002238720.9997762
ENST00000303230ENST00000509059HCN1chr545645287-SPEF2chr535667174+0.0007081080.9992919
ENST00000303230ENST00000356031HCN1chr545645287-SPEF2chr535667174+0.0004777830.9995222
ENST00000303230ENST00000440995HCN1chr545645287-SPEF2chr535667174+0.0005543140.9994456

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Fusion Amino Acid Sequences


check button For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

>35780_35780_1_HCN1-SPEF2_HCN1_chr5_45645287_ENST00000303230_SPEF2_chr5_35667174_ENST00000282469_length(amino acids)=408AA_BP=283
MEGGGKPNSSSNSRDDGNSVFPAKASATGAGPAAAEKRLGTPPGGGGAGAKEHGNSVCFKVDGGGGGGGGGGGGEEPAGGFEDAEGPRRQ
YGFMQRQFTSMLQPGVNKFSLRMFGSQKAVEKEQERVKTAGFWIIHPYSDFRFYWDLIMLIMMVGNLVIIPVGITFFTEQTTTPWIIFNV
ASDTVFLLDLIMNFRTGTVNEDSSEIILDPKVIKMNYLKSWFVVDFISSIPVDYIFLIVEKGMDSEVYKTARALRIVRFTKILSLLRLLR
LSRLIRYIHQWEEALAKQAKIDFEEQFLKEKRFHDQIAVERAQARYEKHYSVCAEILDQIVDLSTKVADYRMLTNNLIPYKLMHDWKELF

--------------------------------------------------------------

>35780_35780_2_HCN1-SPEF2_HCN1_chr5_45645287_ENST00000303230_SPEF2_chr5_35667174_ENST00000356031_length(amino acids)=1716AA_BP=283
MEGGGKPNSSSNSRDDGNSVFPAKASATGAGPAAAEKRLGTPPGGGGAGAKEHGNSVCFKVDGGGGGGGGGGGGEEPAGGFEDAEGPRRQ
YGFMQRQFTSMLQPGVNKFSLRMFGSQKAVEKEQERVKTAGFWIIHPYSDFRFYWDLIMLIMMVGNLVIIPVGITFFTEQTTTPWIIFNV
ASDTVFLLDLIMNFRTGTVNEDSSEIILDPKVIKMNYLKSWFVVDFISSIPVDYIFLIVEKGMDSEVYKTARALRIVRFTKILSLLRLLR
LSRLIRYIHQWEEALAKQAKIDFEEQFLKEKRFHDQIAVERAQARYEKHYSVCAEILDQIVDLSTKVADYRMLTNNLIPYKLMHDWKELF
FNAKPIYEQASVKTLPANPSREQLTELEKRDLLDTNDYEEYKNMVGEWALPEEMVDNLPPSNNCILGHILHRLAEKSLPPRAESTTPELP
SFAVKGCLLGKTLSGKTTILRSLQKDFPIQILSIDTLVQEAIQAFHDNEKVSEVLPIQKNDEEDALPVLQEEIKESQDPQHVFSAGPVSD
EVLPETEGETMLSANADKTPKAEEVKSSDSFLKLTTRAQLGAKSEQLLKKGKSIPDVLLVDIIVNAINEIPVNQDCILDGFPMTLNQAQL
LEEALTGCNRNLTEVERKKAQKSTLAIDPATSKEIPLPSPAFDFVILLDVSDTSSMSRMNDIIAEELSYKTAHEDISQRVAAENQDKDGD
QNLRDQIQHRIIGFLDNWPLLEQWFSEPENILIKINAEIDKESLCEKVKEILTTEIAKKKNKVEKKLEEKEAEKKAAASLAELPLPTPPP
APPPEPEKEKEIHQSHVASKTPTAKGKPQSEAPHGKQESLQEGKGKKGETALKRKGSPKGKSSGGKVPVKKSPADSTDTSPVAIVPQPPK
PGSEEWVYVNEPVPEEMPLFLVPYWELIENSYINTIKTVLRHLREDQHTVLAYLYEIRTSFQEFLKRPDHKQDFVAQWQADFNSLPDDLW
DDEETKAELHQRVNDLRDRLWDICDARKEEAEQERLDIINESWLQDTLGMTMNHFFSLMQAELNRFQDTKRLLQDYYWGMESKIPVEDNK
RFTRIPLVQLDSKDNSESQLRIPLVPRISISLETVTPKPKTKSVLKGKMDNSLENVESNFEADEKLVMDTWQQASLAVSHMVAAEIHQRL
MEEEKENQPADPKEKSPQMGANKKVKKEPPKKKQEDKKPKGKSPPMAEATPVIVTTEEIAEIKRKNELRVKIKEEHLAALQFEEIATQFR
LELIKTKALALLEDLVTKVVDVYKLMEKWLGERYLNEMASTEKLTDVARYHIETSTKIQNELYLSQEDFFINGNIKVFPDPPPSIRPPPV
EKEEDGTLTIEQLDSLRDQFLDMAPKGIIGNKAFTDILIDLVTLNLGTNNFPSNWMHLTQPELQELTSLLTVNSEFVDWRKFLLVTSMPW
PIPLEEELLETLQKFKAVDKEQLGTITFEQYMQAGLWFTGDEDIKIPENPLEPLPFNRQEHLIEFFFRLFADYEKDPPQLDYTQMLLYFA
CHPDTVEGVYRALSVAVGTHVFQQVKASIPSAEKTSSTDAGPAEEFPEPEENAAREERKLKDDTEKREQKDEEIPENANNEKMSMETLLK
VFKGGSEAQDSNRFASHLKIENIYAEGFIKTFQDLGAKNLEPIEVAVLLKHPFIQDLISNYSDYKFPDIKIILQRSEHVQGSDGERSPSR

--------------------------------------------------------------

>35780_35780_3_HCN1-SPEF2_HCN1_chr5_45645287_ENST00000303230_SPEF2_chr5_35667174_ENST00000440995_length(amino acids)=1712AA_BP=283
MEGGGKPNSSSNSRDDGNSVFPAKASATGAGPAAAEKRLGTPPGGGGAGAKEHGNSVCFKVDGGGGGGGGGGGGEEPAGGFEDAEGPRRQ
YGFMQRQFTSMLQPGVNKFSLRMFGSQKAVEKEQERVKTAGFWIIHPYSDFRFYWDLIMLIMMVGNLVIIPVGITFFTEQTTTPWIIFNV
ASDTVFLLDLIMNFRTGTVNEDSSEIILDPKVIKMNYLKSWFVVDFISSIPVDYIFLIVEKGMDSEVYKTARALRIVRFTKILSLLRLLR
LSRLIRYIHQWEEALAKQAKIDFEEQFLKEKRFHDQIAVERAQARYEKHYSVCAEILDQIVDLSTKVADYRMLTNNLIPYKLMHDWKELF
FNAKPIYEQASVKTLPANPSREQLTELEKRDLLDTNDYEEYKNMVGEWALPEEMVDNLPPSNNCILGHILHRLAEKSLPPRAESTTPELP
SFAVKGCLLGKTLSGKTTILRSLQKDFPIQILSIDTLVQEAIQAFHDNEKVSEVLPIQKNDEEDALPVLQEEIKESQDPQHVFSAGPVSD
EVLPETEGANADKTPKAEEVKSSDSFLKLTTRAQLGAKSEQLLKKGKSIPDVLLVDIIVNAINEIPVNQDCILDGFPMTLNQAQLLEEAL
TGCNRNLTEVERKKAQKSTLAIDPATSKEIPLPSPAFDFVILLDVSDTSSMSRMNDIIAEELSYKTAHEDISQRVAAENQDKDGDQNLRD
QIQHRIIGFLDNWPLLEQWFSEPENILIKINAEIDKESLCEKVKEILTTEIAKKKNKVEKKLEEKEAEKKAAASLAELPLPTPPPAPPPE
PEKEKEIHQSHVASKTPTAKGKPQSEAPHGKQESLQEGKGKKGETALKRKGSPKGKSSGGKVPVKKSPADSTDTSPVAIVPQPPKPGSEE
WVYVNEPVPEEMPLFLVPYWELIENSYINTIKTVLRHLREDQHTVLAYLYEIRTSFQEFLKRPDHKQDFVAQWQADFNSLPDDLWDDEET
KAELHQRVNDLRDRLWDICDARKEEAEQERLDIINESWLQDTLGMTMNHFFSLMQAELNRFQDTKRLLQDYYWGMESKIPVEDNKRFTRI
PLVQLDSKDNSESQLRIPLVPRISISLETVTPKPKTKSVLKGKMDNSLENVESNFEADEKLVMDTWQQASLAVSHMVAAEIHQRLMEEEK
ENQPADPKEKSPQMGANKKVKKEPPKKKQEDKKPKGKSPPMAEATPVIVTTEEIAEIKRKNELRVKIKEEHLAALQFEEIATQFRLELIK
TKALALLEDLVTKVVDVYKLMEKWLGERYLNEMASTEKLTDVARYHIETSTKIQNELYLSQEDFFINGNIKVFPDPPPSIRPPPVEKEED
GTLTIEQLDSLRDQFLDMAPKGIIGNKAFTDILIDLVTLNLGTNNFPSNWMHLTQPELQELTSLLTVNSEFVDWRKFLLVTSMPWPIPLE
EELLETLQKFKAVDKEQLGTITFEQYMQAGLWFTGDEDIKIPENPLEPLPFNRQEHLIEFFFRLFADYEKDPPQLDYTQMLLYFACHPDT
VEGVYRALSVAVGTHVFQQVKASIPSAEKTSSTDAGPAEEFPEPEENAAREERKLKDDTEKREQKDEEIPENANNEKMSMETLLKVFKGG
SEAQDSNRFASHLKIENIYAEGFIKTFQDLGAKNLEPIEVAVLLKHPFIQDLISNYSDYKFPVHIIYVVEMIVCAKGWAPLPSGKQCARW

--------------------------------------------------------------

>35780_35780_4_HCN1-SPEF2_HCN1_chr5_45645287_ENST00000303230_SPEF2_chr5_35667174_ENST00000509059_length(amino acids)=837AA_BP=283
MEGGGKPNSSSNSRDDGNSVFPAKASATGAGPAAAEKRLGTPPGGGGAGAKEHGNSVCFKVDGGGGGGGGGGGGEEPAGGFEDAEGPRRQ
YGFMQRQFTSMLQPGVNKFSLRMFGSQKAVEKEQERVKTAGFWIIHPYSDFRFYWDLIMLIMMVGNLVIIPVGITFFTEQTTTPWIIFNV
ASDTVFLLDLIMNFRTGTVNEDSSEIILDPKVIKMNYLKSWFVVDFISSIPVDYIFLIVEKGMDSEVYKTARALRIVRFTKILSLLRLLR
LSRLIRYIHQWEEALAKQAKIDFEEQFLKEKRFHDQIAVERAQARYEKHYSVCAEILDQIVDLSTKVADYRMLTNNLIPYKLMHDWKELF
FNAKPIYEQASVKTLPANPSREQLTELEKRDLLDTNDYEEYKNMVGEWALPEEMVDNLPPSNNCILGHILHRLAEKSLPPRAESTTPELP
SFAVKGCLLGKTLSGKTTILRSLQKDFPIQILSIDTLVQEAIQAFHDNEKVSEVLPIQKNDEEDALPVLQEEIKESQDPQHVFSAGPVSD
EVLPETEGANADKTPKAEEVKSSDSFLKLTTRAQLGAKSEQLLKKGKSIPDVLLVDIIVNAINEIPVNQDCILDGFPMTLNQAQLLEEAL
TGCNRNLTEVERKKAQKSTLAIDPATSKEIPLPSPAFDFVILLDVSDTSSMSRMNDIIAEELSYKTAHEDISQRVAAENQDKDGDQNLRD
QIQHRIIGFLDNWPLLEQWFSEPENILIKINAEIDKESLCEKVKEILTTEIAKKKNKVEKKLEEKEAEKKAAASLAELPLPTPPPAPPPE

--------------------------------------------------------------

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Fusion Protein Functional Features


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr5:45645287/chr5:35667174)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
HCN1

O60741

.
FUNCTION: Hyperpolarization-activated ion channel exhibiting weak selectivity for potassium over sodium ions (PubMed:28086084). Contributes to the native pacemaker currents in heart (If) and in neurons (Ih). May mediate responses to sour stimuli. {ECO:0000269|PubMed:15351778, ECO:0000269|PubMed:28086084, ECO:0000269|PubMed:29936235, ECO:0000269|PubMed:30351409}.FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.

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.
- Retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneHCN1chr5:45645287chr5:35667174ENST00000303230-281_80283.0891.0Compositional biasNote=Gly-rich
HgeneHCN1chr5:45645287chr5:35667174ENST00000303230-281_93283.0891.0RegionIntrinsically disordered
HgeneHCN1chr5:45645287chr5:35667174ENST00000303230-28165_173283.0891.0Topological domainExtracellular
HgeneHCN1chr5:45645287chr5:35667174ENST00000303230-28195_215283.0891.0Topological domainCytoplasmic
HgeneHCN1chr5:45645287chr5:35667174ENST00000303230-281_142283.0891.0Topological domainCytoplasmic
HgeneHCN1chr5:45645287chr5:35667174ENST00000303230-28237_260283.0891.0Topological domainExtracellular
HgeneHCN1chr5:45645287chr5:35667174ENST00000303230-28143_164283.0891.0TransmembraneHelical%3B Name%3DSegment S1
HgeneHCN1chr5:45645287chr5:35667174ENST00000303230-28174_194283.0891.0TransmembraneHelical%3B Name%3DSegment S2
HgeneHCN1chr5:45645287chr5:35667174ENST00000303230-28216_236283.0891.0TransmembraneHelical%3B Name%3DSegment S3
HgeneHCN1chr5:45645287chr5:35667174ENST00000303230-28261_281283.0891.0TransmembraneHelical%3B Voltage-sensor%3B Name%3DSegment S4
TgeneSPEF2chr5:45645287chr5:35667174ENST000002824697101686_1712389.0515.0Coiled coilOntology_term=ECO:0000255
TgeneSPEF2chr5:45645287chr5:35667174ENST00000282469710732_758389.0515.0Coiled coilOntology_term=ECO:0000255
TgeneSPEF2chr5:45645287chr5:35667174ENST00000282469710871_909389.0515.0Coiled coilOntology_term=ECO:0000255
TgeneSPEF2chr5:45645287chr5:35667174ENST000003031290131686_17120620.0Coiled coilOntology_term=ECO:0000255
TgeneSPEF2chr5:45645287chr5:35667174ENST00000303129013227_2600620.0Coiled coilOntology_term=ECO:0000255
TgeneSPEF2chr5:45645287chr5:35667174ENST00000303129013321_3960620.0Coiled coilOntology_term=ECO:0000255
TgeneSPEF2chr5:45645287chr5:35667174ENST00000303129013732_7580620.0Coiled coilOntology_term=ECO:0000255
TgeneSPEF2chr5:45645287chr5:35667174ENST00000303129013871_9090620.0Coiled coilOntology_term=ECO:0000255
TgeneSPEF2chr5:45645287chr5:35667174ENST000003560317371686_1712389.01823.0Coiled coilOntology_term=ECO:0000255
TgeneSPEF2chr5:45645287chr5:35667174ENST00000356031737732_758389.01823.0Coiled coilOntology_term=ECO:0000255
TgeneSPEF2chr5:45645287chr5:35667174ENST00000356031737871_909389.01823.0Coiled coilOntology_term=ECO:0000255
TgeneSPEF2chr5:45645287chr5:35667174ENST000004409957371686_1712389.01819.0Coiled coilOntology_term=ECO:0000255
TgeneSPEF2chr5:45645287chr5:35667174ENST00000440995737732_758389.01819.0Coiled coilOntology_term=ECO:0000255
TgeneSPEF2chr5:45645287chr5:35667174ENST00000440995737871_909389.01819.0Coiled coilOntology_term=ECO:0000255
TgeneSPEF2chr5:45645287chr5:35667174ENST000003031290131_1050620.0DomainCalponin-homology (CH)

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneHCN1chr5:45645287chr5:35667174ENST00000303230-28726_756283.0891.0Compositional biasNote=Gln-rich
HgeneHCN1chr5:45645287chr5:35667174ENST00000303230-28857_863283.0891.0Compositional biasNote=Poly-Pro
HgeneHCN1chr5:45645287chr5:35667174ENST00000303230-28345_366283.0891.0IntramembranePore-forming%3B Name%3DSegment H5
HgeneHCN1chr5:45645287chr5:35667174ENST00000303230-28358_362283.0891.0MotifSelectivity filter
HgeneHCN1chr5:45645287chr5:35667174ENST00000303230-28539_542283.0891.0Nucleotide bindingcAMP
HgeneHCN1chr5:45645287chr5:35667174ENST00000303230-28549_550283.0891.0Nucleotide bindingcAMP
HgeneHCN1chr5:45645287chr5:35667174ENST00000303230-28590_593283.0891.0Nucleotide bindingcAMP
HgeneHCN1chr5:45645287chr5:35667174ENST00000303230-28282_295283.0891.0Topological domainCytoplasmic
HgeneHCN1chr5:45645287chr5:35667174ENST00000303230-28319_344283.0891.0Topological domainExtracellular
HgeneHCN1chr5:45645287chr5:35667174ENST00000303230-28367_371283.0891.0Topological domainExtracellular
HgeneHCN1chr5:45645287chr5:35667174ENST00000303230-28393_890283.0891.0Topological domainCytoplasmic
HgeneHCN1chr5:45645287chr5:35667174ENST00000303230-28296_318283.0891.0TransmembraneHelical%3B Name%3DSegment S5
HgeneHCN1chr5:45645287chr5:35667174ENST00000303230-28372_392283.0891.0TransmembraneHelical%3B Name%3DSegment S6
TgeneSPEF2chr5:45645287chr5:35667174ENST00000282469710227_260389.0515.0Coiled coilOntology_term=ECO:0000255
TgeneSPEF2chr5:45645287chr5:35667174ENST00000282469710321_396389.0515.0Coiled coilOntology_term=ECO:0000255
TgeneSPEF2chr5:45645287chr5:35667174ENST00000356031737227_260389.01823.0Coiled coilOntology_term=ECO:0000255
TgeneSPEF2chr5:45645287chr5:35667174ENST00000356031737321_396389.01823.0Coiled coilOntology_term=ECO:0000255
TgeneSPEF2chr5:45645287chr5:35667174ENST00000440995737227_260389.01819.0Coiled coilOntology_term=ECO:0000255
TgeneSPEF2chr5:45645287chr5:35667174ENST00000440995737321_396389.01819.0Coiled coilOntology_term=ECO:0000255
TgeneSPEF2chr5:45645287chr5:35667174ENST000002824697101_105389.0515.0DomainCalponin-homology (CH)
TgeneSPEF2chr5:45645287chr5:35667174ENST000003560317371_105389.01823.0DomainCalponin-homology (CH)
TgeneSPEF2chr5:45645287chr5:35667174ENST000004409957371_105389.01819.0DomainCalponin-homology (CH)


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Fusion Protein-Protein Interaction


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 from validated records (BIOGRID-3.4.160)
GenePPI interactors


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
HCN1
SPEF2


check button - Retained interactions in fusion protein (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost interactions due to fusion (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs to HCN1-SPEF2


check button Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDrugSourcePMID

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Related Diseases to HCN1-SPEF2


check button Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDiseaseSourcePMID

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