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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:ENPEP-SLC9B2 (FusionGDB2 ID:26612)

Fusion Gene Summary for ENPEP-SLC9B2

check button Fusion gene summary
Fusion gene informationFusion gene name: ENPEP-SLC9B2
Fusion gene ID: 26612
HgeneTgene
Gene symbol

ENPEP

SLC9B2

Gene ID

2028

133308

Gene nameglutamyl aminopeptidasesolute carrier family 9 member B2
SynonymsAPA|CD249|gp160NHA2|NHE10|NHEDC2
Cytomap

4q25

4q24

Type of geneprotein-codingprotein-coding
Descriptionglutamyl aminopeptidaseAP-AEAPaminopeptidase Adifferentiation antigen gp160sodium/hydrogen exchanger 9B2NHE domain-containing protein 2Na(+)/H(+) exchanger NHA2Na(+)/H(+) exchanger-like domain-containing protein 2Na+/H+ exchanger domain containing 2mitochondrial Na(+)/H(+) exchanger NHA2mitochondrial sodium/hydrogen exchan
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000265162, ENST00000504100, 
ENST00000362026, ENST00000339611, 
ENST00000394785, ENST00000503103, 
ENST00000503230, ENST00000505838, 
Fusion gene scores* DoF score3 X 3 X 3=274 X 3 X 4=48
# samples 34
** MAII scorelog2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(4/48*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ENPEP [Title/Abstract] AND SLC9B2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointENPEP(111409838)-SLC9B2(103947748), # samples:2
Anticipated loss of major functional domain due to fusion event.
* 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
HgeneENPEP

GO:0003081

regulation of systemic arterial blood pressure by renin-angiotensin

19608358

HgeneENPEP

GO:0008283

cell proliferation

14998491

HgeneENPEP

GO:0016477

cell migration

14998491

TgeneSLC9B2

GO:0006814

sodium ion transport

18508966


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

check buttonFusion gene breakpoints across SLC9B2 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

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
ChimerDB4HNSCTCGA-CV-7429ENPEPchr4

111409838

+SLC9B2chr4

103947748

-
ChimerDB4HNSCTCGA-CV-7429ENPEPchr4

111409838

+SLC9B2chr4

103947748

-


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Fusion Gene ORF analysis for ENPEP-SLC9B2

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
In-frameENST00000265162ENST00000362026ENPEPchr4

111409838

+SLC9B2chr4

103947748

-
5CDS-intronENST00000265162ENST00000339611ENPEPchr4

111409838

+SLC9B2chr4

103947748

-
5CDS-intronENST00000265162ENST00000394785ENPEPchr4

111409838

+SLC9B2chr4

103947748

-
5CDS-intronENST00000265162ENST00000503103ENPEPchr4

111409838

+SLC9B2chr4

103947748

-
5CDS-intronENST00000265162ENST00000503230ENPEPchr4

111409838

+SLC9B2chr4

103947748

-
5CDS-intronENST00000265162ENST00000505838ENPEPchr4

111409838

+SLC9B2chr4

103947748

-
intron-3CDSENST00000504100ENST00000362026ENPEPchr4

111409838

+SLC9B2chr4

103947748

-
intron-intronENST00000504100ENST00000339611ENPEPchr4

111409838

+SLC9B2chr4

103947748

-
intron-intronENST00000504100ENST00000394785ENPEPchr4

111409838

+SLC9B2chr4

103947748

-
intron-intronENST00000504100ENST00000503103ENPEPchr4

111409838

+SLC9B2chr4

103947748

-
intron-intronENST00000504100ENST00000503230ENPEPchr4

111409838

+SLC9B2chr4

103947748

-
intron-intronENST00000504100ENST00000505838ENPEPchr4

111409838

+SLC9B2chr4

103947748

-

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)
ENST00000265162ENPEPchr4111409838+ENST00000362026SLC9B2chr4103947748-187411283241349341

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
ENST00000265162ENST00000362026ENPEPchr4111409838+SLC9B2chr4103947748-0.0010643780.99893564

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Fusion Genomic Features for ENPEP-SLC9B2


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

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Fusion Protein Features for ENPEP-SLC9B2


check button Go to

FGviewer for the breakpoints of chr4:111409838-chr4:103947748

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
..
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.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.
- In-frame and retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneENPEPchr4:111409838chr4:103947748ENST00000265162+2201_18262.0958.0Topological domainCytoplasmic
HgeneENPEPchr4:111409838chr4:103947748ENST00000265162+22019_39262.0958.0TransmembraneHelical%3B Signal-anchor for type II membrane protein
TgeneSLC9B2chr4:111409838chr4:103947748ENST00000339611011115_1350455.0TransmembraneHelical
TgeneSLC9B2chr4:111409838chr4:103947748ENST00000339611011136_1560455.0TransmembraneHelical
TgeneSLC9B2chr4:111409838chr4:103947748ENST00000339611011209_2290455.0TransmembraneHelical
TgeneSLC9B2chr4:111409838chr4:103947748ENST00000339611011235_2550455.0TransmembraneHelical
TgeneSLC9B2chr4:111409838chr4:103947748ENST00000339611011266_2860455.0TransmembraneHelical
TgeneSLC9B2chr4:111409838chr4:103947748ENST00000339611011307_3270455.0TransmembraneHelical
TgeneSLC9B2chr4:111409838chr4:103947748ENST00000339611011341_3610455.0TransmembraneHelical
TgeneSLC9B2chr4:111409838chr4:103947748ENST00000339611011363_3830455.0TransmembraneHelical
TgeneSLC9B2chr4:111409838chr4:103947748ENST00000339611011388_4080455.0TransmembraneHelical
TgeneSLC9B2chr4:111409838chr4:103947748ENST00000339611011425_4450455.0TransmembraneHelical
TgeneSLC9B2chr4:111409838chr4:103947748ENST00000339611011493_5130455.0TransmembraneHelical
TgeneSLC9B2chr4:111409838chr4:103947748ENST0000033961101187_1070455.0TransmembraneHelical
TgeneSLC9B2chr4:111409838chr4:103947748ENST000003620261013493_513464.0702.6666666666666TransmembraneHelical
TgeneSLC9B2chr4:111409838chr4:103947748ENST000003947851012493_513464.0538.0TransmembraneHelical

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneENPEPchr4:111409838chr4:103947748ENST00000265162+220357_361262.0958.0RegionSubstrate binding
HgeneENPEPchr4:111409838chr4:103947748ENST00000265162+22040_957262.0958.0Topological domainExtracellular
TgeneSLC9B2chr4:111409838chr4:103947748ENST000003620261013115_135464.0702.6666666666666TransmembraneHelical
TgeneSLC9B2chr4:111409838chr4:103947748ENST000003620261013136_156464.0702.6666666666666TransmembraneHelical
TgeneSLC9B2chr4:111409838chr4:103947748ENST000003620261013209_229464.0702.6666666666666TransmembraneHelical
TgeneSLC9B2chr4:111409838chr4:103947748ENST000003620261013235_255464.0702.6666666666666TransmembraneHelical
TgeneSLC9B2chr4:111409838chr4:103947748ENST000003620261013266_286464.0702.6666666666666TransmembraneHelical
TgeneSLC9B2chr4:111409838chr4:103947748ENST000003620261013307_327464.0702.6666666666666TransmembraneHelical
TgeneSLC9B2chr4:111409838chr4:103947748ENST000003620261013341_361464.0702.6666666666666TransmembraneHelical
TgeneSLC9B2chr4:111409838chr4:103947748ENST000003620261013363_383464.0702.6666666666666TransmembraneHelical
TgeneSLC9B2chr4:111409838chr4:103947748ENST000003620261013388_408464.0702.6666666666666TransmembraneHelical
TgeneSLC9B2chr4:111409838chr4:103947748ENST000003620261013425_445464.0702.6666666666666TransmembraneHelical
TgeneSLC9B2chr4:111409838chr4:103947748ENST00000362026101387_107464.0702.6666666666666TransmembraneHelical
TgeneSLC9B2chr4:111409838chr4:103947748ENST000003947851012115_135464.0538.0TransmembraneHelical
TgeneSLC9B2chr4:111409838chr4:103947748ENST000003947851012136_156464.0538.0TransmembraneHelical
TgeneSLC9B2chr4:111409838chr4:103947748ENST000003947851012209_229464.0538.0TransmembraneHelical
TgeneSLC9B2chr4:111409838chr4:103947748ENST000003947851012235_255464.0538.0TransmembraneHelical
TgeneSLC9B2chr4:111409838chr4:103947748ENST000003947851012266_286464.0538.0TransmembraneHelical
TgeneSLC9B2chr4:111409838chr4:103947748ENST000003947851012307_327464.0538.0TransmembraneHelical
TgeneSLC9B2chr4:111409838chr4:103947748ENST000003947851012341_361464.0538.0TransmembraneHelical
TgeneSLC9B2chr4:111409838chr4:103947748ENST000003947851012363_383464.0538.0TransmembraneHelical
TgeneSLC9B2chr4:111409838chr4:103947748ENST000003947851012388_408464.0538.0TransmembraneHelical
TgeneSLC9B2chr4:111409838chr4:103947748ENST000003947851012425_445464.0538.0TransmembraneHelical
TgeneSLC9B2chr4:111409838chr4:103947748ENST00000394785101287_107464.0538.0TransmembraneHelical


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Fusion Gene Sequence for ENPEP-SLC9B2


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>In-frame_ENST00000265162_ENST00000362026_TCGA-CV-7429_ENPEP_chr4_111409838_+_SLC9B2_chr4_103947748_length(transcript)=1874nt_BP=1128nt
GTTTTATATTTAACTCGCTGCAGTGCAGGAGGGGTAGGGGTGGAGATGCGTCGTTTATAAGGGGAGCTGTGACAATCTTCTTGCCAGCCC
TCTTCCTCCCACTCGGCTCCTCTTACGGAGTCCTCATTCCACCCCCCTTGTTTCCGCATTCATCCTGAGTGGCTGGTGGGAACGTGAAAA
GGGAGAGGAAAAGGCGCAAGAAGCCAGAGAGAGGGGTGTGGGAAAAGCGAAAACAGGCTGCCAAATCAGGGGATTCCTTCCAATTTAAAA
AGGAAGTCTGCTGACGTTAGTTAGTTAAATTTAACATCTTTTTATGTGTAACACTTGACTTTGGAAGCAAAAATGAACTTTGCGGAGAGA
GAGGGCTCTAAGAGATACTGCATTCAAACGAAACATGTGGCCATTCTCTGTGCGGTGGTGGTGGGTGTAGGATTAATAGTGGGACTTGCC
GTGGGCTTGACCAGATCGTGTGACTCCAGCGGGGACGGCGGGCCGGGCACTGCGCCAGCTCCTTCCCACCTGCCTTCTTCCACGGCCAGC
CCCTCAGGTCCTCCTGCCCAGGACCAGGACATCTGCCCGGCCAGTGAGGATGAGAGCGGACAGTGGAAAAACTTTCGACTGCCGGACTTC
GTCAACCCAGTCCACTACGACCTGCACGTGAAGCCCCTGTTGGAGGAGGACACCTACACGGGCACCGTGAGCATCTCCATCAACCTGAGC
GCTCCCACCCGGTACCTGTGGCTGCACCTCCGGGAGACCAGGATCACCCGGCTCCCGGAGCTGAAGAGGCCCTCTGGGGACCAGGTGCAA
GTCCGGAGGTGTTTCGAGTACAAAAAGCAGGAGTACGTGGTGGTCGAGGCGGAGGAAGAGCTTACCCCCAGCAGTGGAGATGGCCTGTAT
CTCCTGACCATGGAGTTCGCCGGCTGGCTGAACGGCTCCCTCGTGGGATTTTATAGAACCACCTACACGGAGAACGGACAAGTCAAGAGC
ATAGTGGCCACCGATCATGAACCAACAGATGCCAGGAAATCTTTTCCTTGTTTTGATGAGCCCAACAAAAAGGCAACTTATACAATATCT
ATCACCCATCCCAAAGAATACGGAGCACTTTCAAATATGCCAGTGGCGGCTGCAATAGGATCTGTGGCTTTGGACACAGCAAGGTCACAT
GGAGAGAAACAATTAGAAGACTATGGAATGGATGTGTTGACAGTGGCATTTTTGTCCATCCTCATCACAGCCCCAATTGGAAGTCTGCTT
ATTGGTTTACTGGGCCCCAGGCTTCTGCAGAAAGTTGAACATCAAAATAAAGATGAAGAAGTTCAAGGAGAGACTTCTGTGCAAGTTTAG
AGGAAGCGCGGATTCTATTACTGGAAACTTTGGGACTGAAAGGCCAAAGCTTCTGGGCCCACCATCAACGCAGCTCCGCTTTCATTTCTT
TCACATACAACTTTCCACATAAGATTTCATGCGGAAAAAAAAAAAAAACTCACAAAGGTTTTATACTGATAACAGTATATTAAGTGTTTA
CTTTGTACACAGCGTCTTTGTTCCAGACACTTGCCATGTCTCATTTATTCTCACACCACCACCACAGCGTCCTTTACAGATGAGAAGACA
ACCTCAGGGAGACGATGTATTTGCCTAGGTCCCATAGCTAGCAAGTGACAGCGCTGCAGTTTAAGCTCAGGCCGTCTTGGGGAGAGACCG
TGCTCTTCTACCATTGCACTTTAAGCTGACTTTAGGGGAAACACAATCTGAGTTTTGACAAGTTTACTTCTGGCACATGCAGTCCCGAGC

>In-frame_ENST00000265162_ENST00000362026_TCGA-CV-7429_ENPEP_chr4_111409838_+_SLC9B2_chr4_103947748_length(amino acids)=341AA_start in transcript=324_stop in transcript=1349
MTLEAKMNFAEREGSKRYCIQTKHVAILCAVVVGVGLIVGLAVGLTRSCDSSGDGGPGTAPAPSHLPSSTASPSGPPAQDQDICPASEDE
SGQWKNFRLPDFVNPVHYDLHVKPLLEEDTYTGTVSISINLSAPTRYLWLHLRETRITRLPELKRPSGDQVQVRRCFEYKKQEYVVVEAE
EELTPSSGDGLYLLTMEFAGWLNGSLVGFYRTTYTENGQVKSIVATDHEPTDARKSFPCFDEPNKKATYTISITHPKEYGALSNMPVAAA

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

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Fusion Gene PPI Analysis for ENPEP-SLC9B2


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


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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Related Drugs for ENPEP-SLC9B2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for ENPEP-SLC9B2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneENPEPC0023893Liver Cirrhosis, Experimental1CTD_human
HgeneENPEPC0041696Unipolar Depression1PSYGENET
HgeneENPEPC1269683Major Depressive Disorder1PSYGENET