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Center for Computational Systems Medicine level2
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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 Structure

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pLDDT scores

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Ramachandran Plot of Fusion Protein Structure

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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:GPHN-SLC8A3

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: GPHN-SLC8A3
FusionPDB ID: 34270
FusionGDB2.0 ID: 34270
HgeneTgene
Gene symbol

GPHN

SLC8A3

Gene ID

10243

6547

Gene namegephyrinsolute carrier family 8 member A3
SynonymsGEPH|GPH|GPHRYN|HKPX1|MOCODCNCX3
Cytomap

14q23.3-q24.1

14q24.2

Type of geneprotein-codingprotein-coding
Descriptiongephyrinsodium/calcium exchanger 3Na(+)/Ca(2+)-exchange protein 3sodium/calcium exchanger SLC8A3solute carrier family 8 (sodium/calcium exchanger), member 3
Modification date2020031320200313
UniProtAcc

Q9NQX3

.
Ensembl transtripts involved in fusion geneENST idsENST00000544752, ENST00000305960, 
ENST00000315266, ENST00000478722, 
ENST00000543237, ENST00000459628, 
ENST00000356921, ENST00000381269, 
ENST00000216568, ENST00000357887, 
ENST00000394330, ENST00000528359, 
ENST00000533541, ENST00000533899, 
ENST00000534137, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score38 X 33 X 10=125403 X 3 X 2=18
# samples 403
** MAII scorelog2(40/12540*10)=-4.97039353791468
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 (manual curation of fusion genes in FusionPDB)

PubMed: GPHN [Title/Abstract] AND SLC8A3 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)GPHN(67589094)-SLC8A3(70527656), # samples:3
Anticipated loss of major functional domain due to fusion event.GPHN-SLC8A3 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.
GPHN-SLC8A3 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.
GPHN-SLC8A3 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.
GPHN-SLC8A3 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
HgeneGPHN

GO:0032324

molybdopterin cofactor biosynthetic process

26613940

HgeneGPHN

GO:0097112

gamma-aminobutyric acid receptor clustering

26613940


check buttonFusion gene breakpoints across GPHN (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 SLC8A3 (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
ChimerDB4PRADTCGA-HC-7232-01AGPHNchr14

67589094

-SLC8A3chr14

70527656

-
ChimerDB4PRADTCGA-HC-7232-01AGPHNchr14

67589094

+SLC8A3chr14

70527656

-
ChimerDB4PRADTCGA-HC-7232GPHNchr14

67589094

+SLC8A3chr14

70527656

-


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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)
ENST00000315266GPHNchr1467589094+ENST00000381269SLC8A3chr1470527656-5500277010253769914
ENST00000315266GPHNchr1467589094+ENST00000356921SLC8A3chr1470527656-5482277010253751908
ENST00000478722GPHNchr1467589094+ENST00000381269SLC8A3chr1470527656-5599286910253868947
ENST00000478722GPHNchr1467589094+ENST00000356921SLC8A3chr1470527656-5581286910253850941
ENST00000543237GPHNchr1467589094+ENST00000381269SLC8A3chr1470527656-45411811152810931
ENST00000543237GPHNchr1467589094+ENST00000356921SLC8A3chr1470527656-45231811152792925
ENST00000305960GPHNchr1467589094+ENST00000381269SLC8A3chr1470527656-4301157162570854
ENST00000305960GPHNchr1467589094+ENST00000356921SLC8A3chr1470527656-4283157162552848

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
ENST00000315266ENST00000381269GPHNchr1467589094+SLC8A3chr1470527656-0.0008274860.9991725
ENST00000315266ENST00000356921GPHNchr1467589094+SLC8A3chr1470527656-0.0008510960.99914885
ENST00000478722ENST00000381269GPHNchr1467589094+SLC8A3chr1470527656-0.0012219640.99877805
ENST00000478722ENST00000356921GPHNchr1467589094+SLC8A3chr1470527656-0.0010955080.99890447
ENST00000543237ENST00000381269GPHNchr1467589094+SLC8A3chr1470527656-0.0004094390.9995906
ENST00000543237ENST00000356921GPHNchr1467589094+SLC8A3chr1470527656-0.0003791810.9996208
ENST00000305960ENST00000381269GPHNchr1467589094+SLC8A3chr1470527656-0.0004742160.9995258
ENST00000305960ENST00000356921GPHNchr1467589094+SLC8A3chr1470527656-0.0004576360.99954236

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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

>34270_34270_1_GPHN-SLC8A3_GPHN_chr14_67589094_ENST00000305960_SLC8A3_chr14_70527656_ENST00000356921_length(amino acids)=848AA_BP=522
MGNMATEGMILTNHDHQIRVGVLTVSDSCFRNLAEDRSGINLKDLVQDPSLLGGTISAYKIVPDEIEEIKATKEVIEREAPGMALAMLMG
SLNVTPLGMLSRPVCGIRGKTLIINLPGSKKGSQECFQFILPALPHAIDLLRDAIVKVKEVHDELEDLPSPPPPLSPPPTTSPHKQTEDK
GVQCEEEEEEKKDSGVASTEDSSSSHITAAAIAAKIPDSIISRGVQVLPRDTASLSTTPSESPRAQATSRLSTASCPTPKVQSRCSSKEN
ILRASHSAVDITKVARRHRMSPFPLTSMDKAFITVLEMTPVLGTEIINYRDGMGRVLAQDVYAKDNLPPFPASVKDGYAVRAADGPGDRF
IIGESQAGEQPTQTVMPGQVMRVTTGAPIPCGADAVVQVEDTELIRESDDGTEELEVRILVQARPGQDIRPIGHDIKRGECVLAKGTHMG
PSEIGLLATVGVTEVEVNKFPVVAVMSTGNELLNPEDDLLPGKIRDSNRSTLLATIQEHGYPTINLGIVGDKKTIRVKIVDEEEYERQEN
FFIALGEPKWMERGISDVTDRKLTMEEEEAKRIAEMGKPVLGEHPKLEVIIEESYEFKTTVDKLIKKTNLALVVGTHSWRDQFMEAITVS
AAGDEDEDESGEERLPSCFDYVMHFLTVFWKVLFACVPPTEYCHGWACFAVSILIIGMLTAIIGDLASHFGCTIGLKDSVTAVVFVAFGT
SVPDTFASKAAALQDVYADASIGNVTGSNAVNVFLGIGLAWSVAAIYWALQGQEFHVSAGTLAFSVTLFTIFAFVCISVLLYRRRPHLGG

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

>34270_34270_2_GPHN-SLC8A3_GPHN_chr14_67589094_ENST00000305960_SLC8A3_chr14_70527656_ENST00000381269_length(amino acids)=854AA_BP=522
MGNMATEGMILTNHDHQIRVGVLTVSDSCFRNLAEDRSGINLKDLVQDPSLLGGTISAYKIVPDEIEEIKATKEVIEREAPGMALAMLMG
SLNVTPLGMLSRPVCGIRGKTLIINLPGSKKGSQECFQFILPALPHAIDLLRDAIVKVKEVHDELEDLPSPPPPLSPPPTTSPHKQTEDK
GVQCEEEEEEKKDSGVASTEDSSSSHITAAAIAAKIPDSIISRGVQVLPRDTASLSTTPSESPRAQATSRLSTASCPTPKVQSRCSSKEN
ILRASHSAVDITKVARRHRMSPFPLTSMDKAFITVLEMTPVLGTEIINYRDGMGRVLAQDVYAKDNLPPFPASVKDGYAVRAADGPGDRF
IIGESQAGEQPTQTVMPGQVMRVTTGAPIPCGADAVVQVEDTELIRESDDGTEELEVRILVQARPGQDIRPIGHDIKRGECVLAKGTHMG
PSEIGLLATVGVTEVEVNKFPVVAVMSTGNELLNPEDDLLPGKIRDSNRSTLLATIQEHGYPTINLGIVGDKKTIRVKIVDEEEYERQEN
FFIALGEPKWMERGISALLLSPDVTDRKLTMEEEEAKRIAEMGKPVLGEHPKLEVIIEESYEFKTTVDKLIKKTNLALVVGTHSWRDQFM
EAITVSAAGDEDEDESGEERLPSCFDYVMHFLTVFWKVLFACVPPTEYCHGWACFAVSILIIGMLTAIIGDLASHFGCTIGLKDSVTAVV
FVAFGTSVPDTFASKAAALQDVYADASIGNVTGSNAVNVFLGIGLAWSVAAIYWALQGQEFHVSAGTLAFSVTLFTIFAFVCISVLLYRR

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

>34270_34270_3_GPHN-SLC8A3_GPHN_chr14_67589094_ENST00000315266_SLC8A3_chr14_70527656_ENST00000356921_length(amino acids)=908AA_BP=582
MSRSPRRARSRPARSGLRFLPAPVSAVTALGNMATEGMILTNHDHQIRVGVLTVSDSCFRNLAEDRSGINLKDLVQDPSLLGGTISAYKI
VPDEIEEIKETLIDWCDEKELNLILTTGGTGFAPRDVTPEATKEVIEREAPGMALAMLMGSLNVTPLGMLSRPVCGIRGKTLIINLPGSK
KGSQECFQFILPALPHAIDLLRDAIVKVKEVHDELEDLPSPPPPLSPPPTTSPHKQTEDKGVQCEEEEEEKKDSGVASTEDSSSSHITAA
AIAAKIPDSIISRGVQVLPRDTASLSTTPSESPRAQATSRLSTASCPTPKVQSRCSSKENILRASHSAVDITKVARRHRMSPFPLTSMDK
AFITVLEMTPVLGTEIINYRDGMGRVLAQDVYAKDNLPPFPASVKDGYAVRAADGPGDRFIIGESQAGEQPTQTVMPGQVMRVTTGAPIP
CGADAVVQVEDTELIRESDDGTEELEVRILVQARPGQDIRPIGHDIKRGECVLAKGTHMGPSEIGLLATVGVTEVEVNKFPVVAVMSTGN
ELLNPEDDLLPGKIRDSNRSTLLATIQEHGYPTINLGIVGDKKTIRVKIVDEEEYERQENFFIALGEPKWMERGISDVTDRKLTMEEEEA
KRIAEMGKPVLGEHPKLEVIIEESYEFKTTVDKLIKKTNLALVVGTHSWRDQFMEAITVSAAGDEDEDESGEERLPSCFDYVMHFLTVFW
KVLFACVPPTEYCHGWACFAVSILIIGMLTAIIGDLASHFGCTIGLKDSVTAVVFVAFGTSVPDTFASKAAALQDVYADASIGNVTGSNA
VNVFLGIGLAWSVAAIYWALQGQEFHVSAGTLAFSVTLFTIFAFVCISVLLYRRRPHLGGELGGPRGCKLATTWLFVSLWLLYILFATLE

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

>34270_34270_4_GPHN-SLC8A3_GPHN_chr14_67589094_ENST00000315266_SLC8A3_chr14_70527656_ENST00000381269_length(amino acids)=914AA_BP=582
MSRSPRRARSRPARSGLRFLPAPVSAVTALGNMATEGMILTNHDHQIRVGVLTVSDSCFRNLAEDRSGINLKDLVQDPSLLGGTISAYKI
VPDEIEEIKETLIDWCDEKELNLILTTGGTGFAPRDVTPEATKEVIEREAPGMALAMLMGSLNVTPLGMLSRPVCGIRGKTLIINLPGSK
KGSQECFQFILPALPHAIDLLRDAIVKVKEVHDELEDLPSPPPPLSPPPTTSPHKQTEDKGVQCEEEEEEKKDSGVASTEDSSSSHITAA
AIAAKIPDSIISRGVQVLPRDTASLSTTPSESPRAQATSRLSTASCPTPKVQSRCSSKENILRASHSAVDITKVARRHRMSPFPLTSMDK
AFITVLEMTPVLGTEIINYRDGMGRVLAQDVYAKDNLPPFPASVKDGYAVRAADGPGDRFIIGESQAGEQPTQTVMPGQVMRVTTGAPIP
CGADAVVQVEDTELIRESDDGTEELEVRILVQARPGQDIRPIGHDIKRGECVLAKGTHMGPSEIGLLATVGVTEVEVNKFPVVAVMSTGN
ELLNPEDDLLPGKIRDSNRSTLLATIQEHGYPTINLGIVGDKKTIRVKIVDEEEYERQENFFIALGEPKWMERGISALLLSPDVTDRKLT
MEEEEAKRIAEMGKPVLGEHPKLEVIIEESYEFKTTVDKLIKKTNLALVVGTHSWRDQFMEAITVSAAGDEDEDESGEERLPSCFDYVMH
FLTVFWKVLFACVPPTEYCHGWACFAVSILIIGMLTAIIGDLASHFGCTIGLKDSVTAVVFVAFGTSVPDTFASKAAALQDVYADASIGN
VTGSNAVNVFLGIGLAWSVAAIYWALQGQEFHVSAGTLAFSVTLFTIFAFVCISVLLYRRRPHLGGELGGPRGCKLATTWLFVSLWLLYI

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

>34270_34270_5_GPHN-SLC8A3_GPHN_chr14_67589094_ENST00000478722_SLC8A3_chr14_70527656_ENST00000356921_length(amino acids)=941AA_BP=615
MSRSPRRARSRPARSGLRFLPAPVSAVTALGNMATEGMILTNHDHQIRVGVLTVSDSCFRNLAEDRSGINLKDLVQDPSLLGGTISAYKI
VPDEIEEIKETLIDWCDEKELNLILTTGGTGFAPRDVTPEATKEVIEREAPGMALAMLMGSLNVTPLGMLSRPVCGIRGKTLIINLPGSK
KGSQECFQFILPALPHAIDLLRDAIVKVKEVHDELEDLPSPPPPLSPPPTTSPHKQTEDKGVQCEEEEEEKKDSGVASTEDSSSSHITAA
AIAAKKHPFYTSPAVVMAHGEQPIPGLINYSHHSTDERIPDSIISRGVQVLPRDTASLSTTPSESPRAQATSRLSTASCPTPKVQSRCSS
KENILRASHSAVDITKVARRHRMSPFPLTSMDKAFITVLEMTPVLGTEIINYRDGMGRVLAQDVYAKDNLPPFPASVKDGYAVRAADGPG
DRFIIGESQAGEQPTQTVMPGQVMRVTTGAPIPCGADAVVQVEDTELIRESDDGTEELEVRILVQARPGQDIRPIGHDIKRGECVLAKGT
HMGPSEIGLLATVGVTEVEVNKFPVVAVMSTGNELLNPEDDLLPGKIRDSNRSTLLATIQEHGYPTINLGIVGDKKTIRVKIVDEEEYER
QENFFIALGEPKWMERGISDVTDRKLTMEEEEAKRIAEMGKPVLGEHPKLEVIIEESYEFKTTVDKLIKKTNLALVVGTHSWRDQFMEAI
TVSAAGDEDEDESGEERLPSCFDYVMHFLTVFWKVLFACVPPTEYCHGWACFAVSILIIGMLTAIIGDLASHFGCTIGLKDSVTAVVFVA
FGTSVPDTFASKAAALQDVYADASIGNVTGSNAVNVFLGIGLAWSVAAIYWALQGQEFHVSAGTLAFSVTLFTIFAFVCISVLLYRRRPH

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

>34270_34270_6_GPHN-SLC8A3_GPHN_chr14_67589094_ENST00000478722_SLC8A3_chr14_70527656_ENST00000381269_length(amino acids)=947AA_BP=615
MSRSPRRARSRPARSGLRFLPAPVSAVTALGNMATEGMILTNHDHQIRVGVLTVSDSCFRNLAEDRSGINLKDLVQDPSLLGGTISAYKI
VPDEIEEIKETLIDWCDEKELNLILTTGGTGFAPRDVTPEATKEVIEREAPGMALAMLMGSLNVTPLGMLSRPVCGIRGKTLIINLPGSK
KGSQECFQFILPALPHAIDLLRDAIVKVKEVHDELEDLPSPPPPLSPPPTTSPHKQTEDKGVQCEEEEEEKKDSGVASTEDSSSSHITAA
AIAAKKHPFYTSPAVVMAHGEQPIPGLINYSHHSTDERIPDSIISRGVQVLPRDTASLSTTPSESPRAQATSRLSTASCPTPKVQSRCSS
KENILRASHSAVDITKVARRHRMSPFPLTSMDKAFITVLEMTPVLGTEIINYRDGMGRVLAQDVYAKDNLPPFPASVKDGYAVRAADGPG
DRFIIGESQAGEQPTQTVMPGQVMRVTTGAPIPCGADAVVQVEDTELIRESDDGTEELEVRILVQARPGQDIRPIGHDIKRGECVLAKGT
HMGPSEIGLLATVGVTEVEVNKFPVVAVMSTGNELLNPEDDLLPGKIRDSNRSTLLATIQEHGYPTINLGIVGDKKTIRVKIVDEEEYER
QENFFIALGEPKWMERGISALLLSPDVTDRKLTMEEEEAKRIAEMGKPVLGEHPKLEVIIEESYEFKTTVDKLIKKTNLALVVGTHSWRD
QFMEAITVSAAGDEDEDESGEERLPSCFDYVMHFLTVFWKVLFACVPPTEYCHGWACFAVSILIIGMLTAIIGDLASHFGCTIGLKDSVT
AVVFVAFGTSVPDTFASKAAALQDVYADASIGNVTGSNAVNVFLGIGLAWSVAAIYWALQGQEFHVSAGTLAFSVTLFTIFAFVCISVLL

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

>34270_34270_7_GPHN-SLC8A3_GPHN_chr14_67589094_ENST00000543237_SLC8A3_chr14_70527656_ENST00000356921_length(amino acids)=925AA_BP=599
MGNMATEGMILTNHDHQIRVGVLTVSDSCFRNLAEDRSGINLKDLVQDPSLLGGTISAYKIVPDEIEEIKETLIDWCDEKELNLILTTGG
TGFAPRDVTPEKFPTFPFCGLQKGATKEVIEREAPGMALAMLMGSLNVTPLGMLSRPVCGIRGKTLIINLPGSKKGSQECFQFILPALPH
AIDLLRDAIVKVKEVHDELEDLPSPPPPLSPPPTTSPHKQTEDKGVQCEEEEEEKKDSGVASTEDSSSSHITAAAIAAKIPDSIISRGVQ
VLPRDTASLSTTPSESPRAQATSRLSTASCPTPKQIRRPDESKGVASRVGSLKARLPSCSSTYSVSEVQSRCSSKENILRASHSAVDITK
VARRHRMSPFPLTSMDKAFITVLEMTPVLGTEIINYRDGMGRVLAQDVYAKDNLPPFPASVKDGYAVRAADGPGDRFIIGESQAGEQPTQ
TVMPGQVMRVTTGAPIPCGADAVVQVEDTELIRESDDGTEELEVRILVQARPGQDIRPIGHDIKRGECVLAKGTHMGPSEIGLLATVGVT
EVEVNKFPVVAVMSTGNELLNPEDDLLPGKIRDSNRSTLLATIQEHGYPTINLGIVGDKKTIRVKIVDEEEYERQENFFIALGEPKWMER
GISDVTDRKLTMEEEEAKRIAEMGKPVLGEHPKLEVIIEESYEFKTTVDKLIKKTNLALVVGTHSWRDQFMEAITVSAAGDEDEDESGEE
RLPSCFDYVMHFLTVFWKVLFACVPPTEYCHGWACFAVSILIIGMLTAIIGDLASHFGCTIGLKDSVTAVVFVAFGTSVPDTFASKAAAL
QDVYADASIGNVTGSNAVNVFLGIGLAWSVAAIYWALQGQEFHVSAGTLAFSVTLFTIFAFVCISVLLYRRRPHLGGELGGPRGCKLATT

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

>34270_34270_8_GPHN-SLC8A3_GPHN_chr14_67589094_ENST00000543237_SLC8A3_chr14_70527656_ENST00000381269_length(amino acids)=931AA_BP=599
MGNMATEGMILTNHDHQIRVGVLTVSDSCFRNLAEDRSGINLKDLVQDPSLLGGTISAYKIVPDEIEEIKETLIDWCDEKELNLILTTGG
TGFAPRDVTPEKFPTFPFCGLQKGATKEVIEREAPGMALAMLMGSLNVTPLGMLSRPVCGIRGKTLIINLPGSKKGSQECFQFILPALPH
AIDLLRDAIVKVKEVHDELEDLPSPPPPLSPPPTTSPHKQTEDKGVQCEEEEEEKKDSGVASTEDSSSSHITAAAIAAKIPDSIISRGVQ
VLPRDTASLSTTPSESPRAQATSRLSTASCPTPKQIRRPDESKGVASRVGSLKARLPSCSSTYSVSEVQSRCSSKENILRASHSAVDITK
VARRHRMSPFPLTSMDKAFITVLEMTPVLGTEIINYRDGMGRVLAQDVYAKDNLPPFPASVKDGYAVRAADGPGDRFIIGESQAGEQPTQ
TVMPGQVMRVTTGAPIPCGADAVVQVEDTELIRESDDGTEELEVRILVQARPGQDIRPIGHDIKRGECVLAKGTHMGPSEIGLLATVGVT
EVEVNKFPVVAVMSTGNELLNPEDDLLPGKIRDSNRSTLLATIQEHGYPTINLGIVGDKKTIRVKIVDEEEYERQENFFIALGEPKWMER
GISALLLSPDVTDRKLTMEEEEAKRIAEMGKPVLGEHPKLEVIIEESYEFKTTVDKLIKKTNLALVVGTHSWRDQFMEAITVSAAGDEDE
DESGEERLPSCFDYVMHFLTVFWKVLFACVPPTEYCHGWACFAVSILIIGMLTAIIGDLASHFGCTIGLKDSVTAVVFVAFGTSVPDTFA
SKAAALQDVYADASIGNVTGSNAVNVFLGIGLAWSVAAIYWALQGQEFHVSAGTLAFSVTLFTIFAFVCISVLLYRRRPHLGGELGGPRG

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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/chr14:67589094/chr14:70527656)
- 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
GPHN

Q9NQX3

.
FUNCTION: Microtubule-associated protein involved in membrane protein-cytoskeleton interactions. It is thought to anchor the inhibitory glycine receptor (GLYR) to subsynaptic microtubules (By similarity). Acts as a major instructive molecule at inhibitory synapses, where it also clusters GABA type A receptors (PubMed:25025157, PubMed:26613940). {ECO:0000250|UniProtKB:Q03555, ECO:0000269|PubMed:25025157, ECO:0000269|PubMed:26613940}.; FUNCTION: Has also a catalytic activity and catalyzes two steps in the biosynthesis of the molybdenum cofactor. In the first step, molybdopterin is adenylated. Subsequently, molybdate is inserted into adenylated molybdopterin and AMP is released. {ECO:0000269|PubMed:26613940}.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
HgeneGPHNchr14:67589094chr14:70527656ENST00000315266+162214_166549.6666666666666737.0RegionNote=MPT Mo-transferase
HgeneGPHNchr14:67589094chr14:70527656ENST00000478722+172314_166582.6666666666666770.0RegionNote=MPT Mo-transferase
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000021656806386_4850299.0DomainNote=Calx-beta 1
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000021656806519_6190299.0DomainNote=Calx-beta 2
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000035788708386_4850926.0DomainNote=Calx-beta 1
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000035788708519_6190926.0DomainNote=Calx-beta 2
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000039433005386_4850285.0DomainNote=Calx-beta 1
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000039433005519_6190285.0DomainNote=Calx-beta 2
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000052835907386_4850926.0DomainNote=Calx-beta 1
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000052835907519_6190926.0DomainNote=Calx-beta 2
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000021656806253_2720299.0RegionPutative calmodulin-binding region
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000035788708253_2720926.0RegionPutative calmodulin-binding region
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000039433005253_2720285.0RegionPutative calmodulin-binding region
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000052835907253_2720926.0RegionPutative calmodulin-binding region
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000021656806140_1800299.0RepeatNote=Alpha-1
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000021656806796_8320299.0RepeatNote=Alpha-2
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000035692117796_832594.6666666666666922.0RepeatNote=Alpha-2
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000035788708140_1800926.0RepeatNote=Alpha-1
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000035788708796_8320926.0RepeatNote=Alpha-2
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000038126918796_832594.6666666666666928.0RepeatNote=Alpha-2
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000039433005140_1800285.0RepeatNote=Alpha-1
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000039433005796_8320285.0RepeatNote=Alpha-2
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000052835907140_1800926.0RepeatNote=Alpha-1
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000052835907796_8320926.0RepeatNote=Alpha-2
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000053413707796_832594.6666666666666925.0RepeatNote=Alpha-2
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000021656806169_1690299.0Topological domainExtracellular
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000021656806191_2020299.0Topological domainCytoplasmic
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000021656806224_2300299.0Topological domainExtracellular
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000021656806252_7260299.0Topological domainCytoplasmic
TgeneSLC8A3chr14:67589094chr14:70527656ENST000002165680631_730299.0Topological domainExtracellular
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000021656806748_7540299.0Topological domainExtracellular
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000021656806776_7780299.0Topological domainCytoplasmic
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000021656806800_8280299.0Topological domainExtracellular
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000021656806850_8600299.0Topological domainCytoplasmic
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000021656806882_9030299.0Topological domainExtracellular
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000021656806925_9270299.0Topological domainCytoplasmic
TgeneSLC8A3chr14:67589094chr14:70527656ENST000002165680695_1470299.0Topological domainCytoplasmic
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000035692117748_754594.6666666666666922.0Topological domainExtracellular
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000035692117776_778594.6666666666666922.0Topological domainCytoplasmic
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000035692117800_828594.6666666666666922.0Topological domainExtracellular
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000035692117850_860594.6666666666666922.0Topological domainCytoplasmic
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000035692117882_903594.6666666666666922.0Topological domainExtracellular
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000035692117925_927594.6666666666666922.0Topological domainCytoplasmic
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000035788708169_1690926.0Topological domainExtracellular
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000035788708191_2020926.0Topological domainCytoplasmic
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000035788708224_2300926.0Topological domainExtracellular
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000035788708252_7260926.0Topological domainCytoplasmic
TgeneSLC8A3chr14:67589094chr14:70527656ENST000003578870831_730926.0Topological domainExtracellular
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000035788708748_7540926.0Topological domainExtracellular
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000035788708776_7780926.0Topological domainCytoplasmic
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000035788708800_8280926.0Topological domainExtracellular
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000035788708850_8600926.0Topological domainCytoplasmic
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000035788708882_9030926.0Topological domainExtracellular
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000035788708925_9270926.0Topological domainCytoplasmic
TgeneSLC8A3chr14:67589094chr14:70527656ENST000003578870895_1470926.0Topological domainCytoplasmic
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000038126918748_754594.6666666666666928.0Topological domainExtracellular
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000038126918776_778594.6666666666666928.0Topological domainCytoplasmic
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000038126918800_828594.6666666666666928.0Topological domainExtracellular
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000038126918850_860594.6666666666666928.0Topological domainCytoplasmic
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000038126918882_903594.6666666666666928.0Topological domainExtracellular
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000038126918925_927594.6666666666666928.0Topological domainCytoplasmic
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000039433005169_1690285.0Topological domainExtracellular
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000039433005191_2020285.0Topological domainCytoplasmic
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000039433005224_2300285.0Topological domainExtracellular
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000039433005252_7260285.0Topological domainCytoplasmic
TgeneSLC8A3chr14:67589094chr14:70527656ENST000003943300531_730285.0Topological domainExtracellular
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000039433005748_7540285.0Topological domainExtracellular
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000039433005776_7780285.0Topological domainCytoplasmic
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000039433005800_8280285.0Topological domainExtracellular
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000039433005850_8600285.0Topological domainCytoplasmic
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000039433005882_9030285.0Topological domainExtracellular
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000039433005925_9270285.0Topological domainCytoplasmic
TgeneSLC8A3chr14:67589094chr14:70527656ENST000003943300595_1470285.0Topological domainCytoplasmic
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000052835907169_1690926.0Topological domainExtracellular
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000052835907191_2020926.0Topological domainCytoplasmic
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000052835907224_2300926.0Topological domainExtracellular
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000052835907252_7260926.0Topological domainCytoplasmic
TgeneSLC8A3chr14:67589094chr14:70527656ENST000005283590731_730926.0Topological domainExtracellular
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000052835907748_7540926.0Topological domainExtracellular
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000052835907776_7780926.0Topological domainCytoplasmic
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000052835907800_8280926.0Topological domainExtracellular
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000052835907850_8600926.0Topological domainCytoplasmic
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000052835907882_9030926.0Topological domainExtracellular
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000052835907925_9270926.0Topological domainCytoplasmic
TgeneSLC8A3chr14:67589094chr14:70527656ENST000005283590795_1470926.0Topological domainCytoplasmic
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000053413707748_754594.6666666666666925.0Topological domainExtracellular
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000053413707776_778594.6666666666666925.0Topological domainCytoplasmic
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000053413707800_828594.6666666666666925.0Topological domainExtracellular
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000053413707850_860594.6666666666666925.0Topological domainCytoplasmic
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000053413707882_903594.6666666666666925.0Topological domainExtracellular
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000053413707925_927594.6666666666666925.0Topological domainCytoplasmic
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000021656806148_1680299.0TransmembraneHelical
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000021656806170_1900299.0TransmembraneHelical
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000021656806203_2230299.0TransmembraneHelical
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000021656806231_2510299.0TransmembraneHelical
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000021656806727_7470299.0TransmembraneHelical
TgeneSLC8A3chr14:67589094chr14:70527656ENST000002165680674_940299.0TransmembraneHelical
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000021656806755_7750299.0TransmembraneHelical
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000021656806779_7990299.0TransmembraneHelical
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000021656806829_8490299.0TransmembraneHelical
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000021656806861_8810299.0TransmembraneHelical
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000021656806904_9240299.0TransmembraneHelical
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000035692117727_747594.6666666666666922.0TransmembraneHelical
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000035692117755_775594.6666666666666922.0TransmembraneHelical
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000035692117779_799594.6666666666666922.0TransmembraneHelical
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000035692117829_849594.6666666666666922.0TransmembraneHelical
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000035692117861_881594.6666666666666922.0TransmembraneHelical
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000035692117904_924594.6666666666666922.0TransmembraneHelical
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000035788708148_1680926.0TransmembraneHelical
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000035788708170_1900926.0TransmembraneHelical
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000035788708203_2230926.0TransmembraneHelical
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000035788708231_2510926.0TransmembraneHelical
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000035788708727_7470926.0TransmembraneHelical
TgeneSLC8A3chr14:67589094chr14:70527656ENST000003578870874_940926.0TransmembraneHelical
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000035788708755_7750926.0TransmembraneHelical
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000035788708779_7990926.0TransmembraneHelical
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000035788708829_8490926.0TransmembraneHelical
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000035788708861_8810926.0TransmembraneHelical
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000035788708904_9240926.0TransmembraneHelical
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000038126918727_747594.6666666666666928.0TransmembraneHelical
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000038126918755_775594.6666666666666928.0TransmembraneHelical
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000038126918779_799594.6666666666666928.0TransmembraneHelical
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000038126918829_849594.6666666666666928.0TransmembraneHelical
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000038126918861_881594.6666666666666928.0TransmembraneHelical
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000038126918904_924594.6666666666666928.0TransmembraneHelical
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000039433005148_1680285.0TransmembraneHelical
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000039433005170_1900285.0TransmembraneHelical
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000039433005203_2230285.0TransmembraneHelical
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000039433005231_2510285.0TransmembraneHelical
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000039433005727_7470285.0TransmembraneHelical
TgeneSLC8A3chr14:67589094chr14:70527656ENST000003943300574_940285.0TransmembraneHelical
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000039433005755_7750285.0TransmembraneHelical
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000039433005779_7990285.0TransmembraneHelical
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000039433005829_8490285.0TransmembraneHelical
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000039433005861_8810285.0TransmembraneHelical
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000039433005904_9240285.0TransmembraneHelical
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000052835907148_1680926.0TransmembraneHelical
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000052835907170_1900926.0TransmembraneHelical
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000052835907203_2230926.0TransmembraneHelical
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000052835907231_2510926.0TransmembraneHelical
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000052835907727_7470926.0TransmembraneHelical
TgeneSLC8A3chr14:67589094chr14:70527656ENST000005283590774_940926.0TransmembraneHelical
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000052835907755_7750926.0TransmembraneHelical
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000052835907779_7990926.0TransmembraneHelical
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000052835907829_8490926.0TransmembraneHelical
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000052835907861_8810926.0TransmembraneHelical
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000052835907904_9240926.0TransmembraneHelical
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000053413707727_747594.6666666666666925.0TransmembraneHelical
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000053413707755_775594.6666666666666925.0TransmembraneHelical
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000053413707779_799594.6666666666666925.0TransmembraneHelical
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000053413707829_849594.6666666666666925.0TransmembraneHelical
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000053413707861_881594.6666666666666925.0TransmembraneHelical
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000053413707904_924594.6666666666666925.0TransmembraneHelical

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneGPHNchr14:67589094chr14:70527656ENST00000315266+1622326_736549.6666666666666737.0RegionNote=MPT adenylyltransferase
HgeneGPHNchr14:67589094chr14:70527656ENST00000478722+1723326_736582.6666666666666770.0RegionNote=MPT adenylyltransferase
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000035692117386_485594.6666666666666922.0DomainNote=Calx-beta 1
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000035692117519_619594.6666666666666922.0DomainNote=Calx-beta 2
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000038126918386_485594.6666666666666928.0DomainNote=Calx-beta 1
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000038126918519_619594.6666666666666928.0DomainNote=Calx-beta 2
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000053413707386_485594.6666666666666925.0DomainNote=Calx-beta 1
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000053413707519_619594.6666666666666925.0DomainNote=Calx-beta 2
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000035692117253_272594.6666666666666922.0RegionPutative calmodulin-binding region
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000038126918253_272594.6666666666666928.0RegionPutative calmodulin-binding region
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000053413707253_272594.6666666666666925.0RegionPutative calmodulin-binding region
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000035692117140_180594.6666666666666922.0RepeatNote=Alpha-1
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000038126918140_180594.6666666666666928.0RepeatNote=Alpha-1
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000053413707140_180594.6666666666666925.0RepeatNote=Alpha-1
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000035692117169_169594.6666666666666922.0Topological domainExtracellular
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000035692117191_202594.6666666666666922.0Topological domainCytoplasmic
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000035692117224_230594.6666666666666922.0Topological domainExtracellular
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000035692117252_726594.6666666666666922.0Topological domainCytoplasmic
TgeneSLC8A3chr14:67589094chr14:70527656ENST000003569211731_73594.6666666666666922.0Topological domainExtracellular
TgeneSLC8A3chr14:67589094chr14:70527656ENST000003569211795_147594.6666666666666922.0Topological domainCytoplasmic
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000038126918169_169594.6666666666666928.0Topological domainExtracellular
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000038126918191_202594.6666666666666928.0Topological domainCytoplasmic
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000038126918224_230594.6666666666666928.0Topological domainExtracellular
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000038126918252_726594.6666666666666928.0Topological domainCytoplasmic
TgeneSLC8A3chr14:67589094chr14:70527656ENST000003812691831_73594.6666666666666928.0Topological domainExtracellular
TgeneSLC8A3chr14:67589094chr14:70527656ENST000003812691895_147594.6666666666666928.0Topological domainCytoplasmic
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000053413707169_169594.6666666666666925.0Topological domainExtracellular
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000053413707191_202594.6666666666666925.0Topological domainCytoplasmic
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000053413707224_230594.6666666666666925.0Topological domainExtracellular
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000053413707252_726594.6666666666666925.0Topological domainCytoplasmic
TgeneSLC8A3chr14:67589094chr14:70527656ENST000005341370731_73594.6666666666666925.0Topological domainExtracellular
TgeneSLC8A3chr14:67589094chr14:70527656ENST000005341370795_147594.6666666666666925.0Topological domainCytoplasmic
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000035692117148_168594.6666666666666922.0TransmembraneHelical
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000035692117170_190594.6666666666666922.0TransmembraneHelical
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000035692117203_223594.6666666666666922.0TransmembraneHelical
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000035692117231_251594.6666666666666922.0TransmembraneHelical
TgeneSLC8A3chr14:67589094chr14:70527656ENST000003569211774_94594.6666666666666922.0TransmembraneHelical
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000038126918148_168594.6666666666666928.0TransmembraneHelical
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000038126918170_190594.6666666666666928.0TransmembraneHelical
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000038126918203_223594.6666666666666928.0TransmembraneHelical
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000038126918231_251594.6666666666666928.0TransmembraneHelical
TgeneSLC8A3chr14:67589094chr14:70527656ENST000003812691874_94594.6666666666666928.0TransmembraneHelical
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000053413707148_168594.6666666666666925.0TransmembraneHelical
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000053413707170_190594.6666666666666925.0TransmembraneHelical
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000053413707203_223594.6666666666666925.0TransmembraneHelical
TgeneSLC8A3chr14:67589094chr14:70527656ENST0000053413707231_251594.6666666666666925.0TransmembraneHelical
TgeneSLC8A3chr14:67589094chr14:70527656ENST000005341370774_94594.6666666666666925.0TransmembraneHelical


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Fusion Protein Structures

check button PDB and CIF files of the predicted fusion proteins
* Here we show the 3D structure of the fusion proteins using Mol*. AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100. Model confidence is shown from the pLDDT values per residue. pLDDT corresponds to the model’s prediction of its score on the local Distance Difference Test. It is a measure of local accuracy (from AlphfaFold website). To color code individual residues, we transformed individual PDB files into CIF format.
Fusion protein PDB link (fusion AA seq ID in FusionPDB)HgeneHchrHbpHstrandTgeneTchrTbpTstrandAA seqLen(AA seq)
PDB file >>>1743_GPHN_67589094_SLC8A3_70527656_ranked_0.pdbGPHN6758909467589094ENST00000356921SLC8A3chr1470527656-
MSRSPRRARSRPARSGLRFLPAPVSAVTALGNMATEGMILTNHDHQIRVGVLTVSDSCFRNLAEDRSGINLKDLVQDPSLLGGTISAYKI
VPDEIEEIKETLIDWCDEKELNLILTTGGTGFAPRDVTPEATKEVIEREAPGMALAMLMGSLNVTPLGMLSRPVCGIRGKTLIINLPGSK
KGSQECFQFILPALPHAIDLLRDAIVKVKEVHDELEDLPSPPPPLSPPPTTSPHKQTEDKGVQCEEEEEEKKDSGVASTEDSSSSHITAA
AIAAKKHPFYTSPAVVMAHGEQPIPGLINYSHHSTDERIPDSIISRGVQVLPRDTASLSTTPSESPRAQATSRLSTASCPTPKVQSRCSS
KENILRASHSAVDITKVARRHRMSPFPLTSMDKAFITVLEMTPVLGTEIINYRDGMGRVLAQDVYAKDNLPPFPASVKDGYAVRAADGPG
DRFIIGESQAGEQPTQTVMPGQVMRVTTGAPIPCGADAVVQVEDTELIRESDDGTEELEVRILVQARPGQDIRPIGHDIKRGECVLAKGT
HMGPSEIGLLATVGVTEVEVNKFPVVAVMSTGNELLNPEDDLLPGKIRDSNRSTLLATIQEHGYPTINLGIVGDKKTIRVKIVDEEEYER
QENFFIALGEPKWMERGISALLLSPDVTDRKLTMEEEEAKRIAEMGKPVLGEHPKLEVIIEESYEFKTTVDKLIKKTNLALVVGTHSWRD
QFMEAITVSAAGDEDEDESGEERLPSCFDYVMHFLTVFWKVLFACVPPTEYCHGWACFAVSILIIGMLTAIIGDLASHFGCTIGLKDSVT
AVVFVAFGTSVPDTFASKAAALQDVYADASIGNVTGSNAVNVFLGIGLAWSVAAIYWALQGQEFHVSAGTLAFSVTLFTIFAFVCISVLL
947


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pLDDT score distribution

check button pLDDT score distribution of the predicted wild-type structures of two partner proteins from AlphaFold2
* AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100.
GPHN_pLDDT.png
all structure
all structure
SLC8A3_pLDDT.png
all structure
all structure

check button pLDDT score distribution of the predicted fusion protein structures from AlphaFold2
* AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100.
all structure


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Ramachandran Plot of Fusion Protein Structure


check button Ramachandran plot of the torsional angles - phi (φ)and psi (ψ) - of the residues (amino acids) contained in this fusion protein peptide.
Fusion AA seq ID in FusionPDB and their Ramachandran plots

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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
GPHNall structure
SLC8A3


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 GPHN-SLC8A3


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 GPHN-SLC8A3


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
HgeneGPHNC1854990Molybdenum Cofactor Deficiency, Complementation Group C5CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneGPHNC0001956Alcohol Use Disorder1CTD_human
HgeneGPHNC0001973Alcoholic Intoxication, Chronic1CTD_human
HgeneGPHNC0009171Cocaine Abuse1CTD_human
HgeneGPHNC0085762Alcohol abuse1CTD_human
HgeneGPHNC0236736Cocaine-Related Disorders1CTD_human
HgeneGPHNC0543888Epileptic encephalopathy1GENOMICS_ENGLAND
HgeneGPHNC0600427Cocaine Dependence1CTD_human