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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: 34642

FusionGeneSummary for SLC9A3R1_VASH2

check button Fusion gene summary
Fusion gene informationFusion gene name: SLC9A3R1_VASH2
Fusion gene ID: 34642
HgeneTgene
Gene symbol

SLC9A3R1

VASH2

Gene ID

9368

79805

Gene nameSLC9A3 regulator 1vasohibin 2
SynonymsEBP50|NHERF|NHERF-1|NHERF1|NPHLOP2-
Cytomap

17q25.1

1q32.3

Type of geneprotein-codingprotein-coding
DescriptionNa(+)/H(+) exchange regulatory cofactor NHE-RF1Na+/H+ exchange regulatory co-factorezrin-radixin-moesin binding phosphoprotein-50regulatory cofactor of Na(+)/H(+) exchangersolute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulatory factovasohibin-2testicular tissue protein Li 222vasohibin-like protein
Modification date2018052220180523
UniProtAcc

O14745

Q86V25

Ensembl transtripts involved in fusion geneENST00000262613, ENST00000413388, 
ENST00000366966, ENST00000366964, 
ENST00000366968, ENST00000366965, 
ENST00000271776, ENST00000366967, 
ENST00000517399, 
Fusion gene scores* DoF score7 X 8 X 6=3363 X 3 X 2=18
# samples 93
** MAII scorelog2(9/336*10)=-1.90046432644909
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

PubMed: SLC9A3R1 [Title/Abstract] AND VASH2 [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
HgeneSLC9A3R1

GO:0008285

negative regulation of cell proliferation

20012548

HgeneSLC9A3R1

GO:0070373

negative regulation of ERK1 and ERK2 cascade

20012548

HgeneSLC9A3R1

GO:2001244

positive regulation of intrinsic apoptotic signaling pathway

20012548

TgeneVASH2

GO:0001938

positive regulation of endothelial cell proliferation

19204325

TgeneVASH2

GO:0045026

plasma membrane fusion

25184477

TgeneVASH2

GO:0045766

positive regulation of angiogenesis

19204325


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
ChiTaRS3.1BF746841SLC9A3R1chr17

72759504

-VASH2chr1

213151439

-
* 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
intron-intronENST00000262613ENST00000366966SLC9A3R1chr17

72759504

-VASH2chr1

213151439

-
intron-intronENST00000262613ENST00000366964SLC9A3R1chr17

72759504

-VASH2chr1

213151439

-
intron-intronENST00000262613ENST00000366968SLC9A3R1chr17

72759504

-VASH2chr1

213151439

-
intron-intronENST00000262613ENST00000366965SLC9A3R1chr17

72759504

-VASH2chr1

213151439

-
intron-intronENST00000262613ENST00000271776SLC9A3R1chr17

72759504

-VASH2chr1

213151439

-
intron-intronENST00000262613ENST00000366967SLC9A3R1chr17

72759504

-VASH2chr1

213151439

-
intron-intronENST00000262613ENST00000517399SLC9A3R1chr17

72759504

-VASH2chr1

213151439

-
intron-intronENST00000413388ENST00000366966SLC9A3R1chr17

72759504

-VASH2chr1

213151439

-
intron-intronENST00000413388ENST00000366964SLC9A3R1chr17

72759504

-VASH2chr1

213151439

-
intron-intronENST00000413388ENST00000366968SLC9A3R1chr17

72759504

-VASH2chr1

213151439

-
intron-intronENST00000413388ENST00000366965SLC9A3R1chr17

72759504

-VASH2chr1

213151439

-
intron-intronENST00000413388ENST00000271776SLC9A3R1chr17

72759504

-VASH2chr1

213151439

-
intron-intronENST00000413388ENST00000366967SLC9A3R1chr17

72759504

-VASH2chr1

213151439

-
intron-intronENST00000413388ENST00000517399SLC9A3R1chr17

72759504

-VASH2chr1

213151439

-

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FusionProtFeatures for SLC9A3R1_VASH2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SLC9A3R1

O14745

VASH2

Q86V25

Scaffold protein that connects plasma membrane proteinswith members of the ezrin/moesin/radixin family and thereby helpsto link them to the actin cytoskeleton and to regulate theirsurface expression. Necessary for recycling of internalized ADRB2.Was first known to play a role in the regulation of the activityand subcellular location of SLC9A3. Necessary for cAMP-mediatedphosphorylation and inhibition of SLC9A3. May enhance Wntsignaling. May participate in HTR4 targeting to microvilli (Bysimilarity). Involved in the regulation of phosphate reabsorptionin the renal proximal tubules. Involved in sperm capacitation. Mayparticipate in the regulation of the chloride and bicarbonatehomeostasis in spermatozoa. {ECO:0000250,ECO:0000269|PubMed:10499588, ECO:0000269|PubMed:18784102,ECO:0000269|PubMed:9096337, ECO:0000269|PubMed:9430655}. Angiogenesis inhibitor. Inhibits network formation byendothelial cells. {ECO:0000269|PubMed:16528006}.

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 SLC9A3R1_VASH2


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 SLC9A3R1_VASH2


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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RelatedDrugs for SLC9A3R1_VASH2


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

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RelatedDiseases for SLC9A3R1_VASH2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneSLC9A3R1C2676782Nephrolithiasis-Osteoporosis, Hypophosphatemic, 22CTD_human;UNIPROT