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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: 41586

FusionGeneSummary for VPS37A_SLC4A5

check button Fusion gene summary
Fusion gene informationFusion gene name: VPS37A_SLC4A5
Fusion gene ID: 41586
HgeneTgene
Gene symbol

VPS37A

SLC4A5

Gene ID

137492

57835

Gene nameVPS37A, ESCRT-I subunitsolute carrier family 4 member 5
SynonymsHCRP1|PQBP2|SPG53NBC4|NBCe2
Cytomap

8p22

2p13.1

Type of geneprotein-codingprotein-coding
Descriptionvacuolar protein sorting-associated protein 37AESCRT-I complex subunit VPS37Ahepatocellular carcinoma-related protein 1polyglutamine binding protein 2vacuolar protein sorting 37 homolog Aelectrogenic sodium bicarbonate cotransporter 4solute carrier family 4 (sodium bicarbonate cotransporter), member 5
Modification date2018052220180523
UniProtAcc

Q8NEZ2

Q9BY07

Ensembl transtripts involved in fusion geneENST00000324849, ENST00000324815, 
ENST00000521829, ENST00000521005, 
ENST00000521162, 		ENST00000483195, 
ENST00000394019, ENST00000423644, 
ENST00000346834, ENST00000359484, 
ENST00000357822, ENST00000358683, 
ENST00000377632, ENST00000377634, 
Fusion gene scores* DoF score4 X 4 X 2=327 X 8 X 2=112
# samples 48
** MAII scorelog2(4/32*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(8/112*10)=-0.485426827170242
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: VPS37A [Title/Abstract] AND SLC4A5 [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

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
ChiTaRS3.1BE162411VPS37Achr8

17111953

-SLC4A5chr2

74454220

-
* 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-5UTRENST00000324849ENST00000483195VPS37Achr8

17111953

-SLC4A5chr2

74454220

-
intron-5UTRENST00000324849ENST00000394019VPS37Achr8

17111953

-SLC4A5chr2

74454220

-
intron-5UTRENST00000324849ENST00000423644VPS37Achr8

17111953

-SLC4A5chr2

74454220

-
intron-intronENST00000324849ENST00000346834VPS37Achr8

17111953

-SLC4A5chr2

74454220

-
intron-intronENST00000324849ENST00000359484VPS37Achr8

17111953

-SLC4A5chr2

74454220

-
intron-intronENST00000324849ENST00000357822VPS37Achr8

17111953

-SLC4A5chr2

74454220

-
intron-intronENST00000324849ENST00000358683VPS37Achr8

17111953

-SLC4A5chr2

74454220

-
intron-intronENST00000324849ENST00000377632VPS37Achr8

17111953

-SLC4A5chr2

74454220

-
intron-intronENST00000324849ENST00000377634VPS37Achr8

17111953

-SLC4A5chr2

74454220

-
intron-5UTRENST00000324815ENST00000483195VPS37Achr8

17111953

-SLC4A5chr2

74454220

-
intron-5UTRENST00000324815ENST00000394019VPS37Achr8

17111953

-SLC4A5chr2

74454220

-
intron-5UTRENST00000324815ENST00000423644VPS37Achr8

17111953

-SLC4A5chr2

74454220

-
intron-intronENST00000324815ENST00000346834VPS37Achr8

17111953

-SLC4A5chr2

74454220

-
intron-intronENST00000324815ENST00000359484VPS37Achr8

17111953

-SLC4A5chr2

74454220

-
intron-intronENST00000324815ENST00000357822VPS37Achr8

17111953

-SLC4A5chr2

74454220

-
intron-intronENST00000324815ENST00000358683VPS37Achr8

17111953

-SLC4A5chr2

74454220

-
intron-intronENST00000324815ENST00000377632VPS37Achr8

17111953

-SLC4A5chr2

74454220

-
intron-intronENST00000324815ENST00000377634VPS37Achr8

17111953

-SLC4A5chr2

74454220

-
intron-5UTRENST00000521829ENST00000483195VPS37Achr8

17111953

-SLC4A5chr2

74454220

-
intron-5UTRENST00000521829ENST00000394019VPS37Achr8

17111953

-SLC4A5chr2

74454220

-
intron-5UTRENST00000521829ENST00000423644VPS37Achr8

17111953

-SLC4A5chr2

74454220

-
intron-intronENST00000521829ENST00000346834VPS37Achr8

17111953

-SLC4A5chr2

74454220

-
intron-intronENST00000521829ENST00000359484VPS37Achr8

17111953

-SLC4A5chr2

74454220

-
intron-intronENST00000521829ENST00000357822VPS37Achr8

17111953

-SLC4A5chr2

74454220

-
intron-intronENST00000521829ENST00000358683VPS37Achr8

17111953

-SLC4A5chr2

74454220

-
intron-intronENST00000521829ENST00000377632VPS37Achr8

17111953

-SLC4A5chr2

74454220

-
intron-intronENST00000521829ENST00000377634VPS37Achr8

17111953

-SLC4A5chr2

74454220

-
intron-5UTRENST00000521005ENST00000483195VPS37Achr8

17111953

-SLC4A5chr2

74454220

-
intron-5UTRENST00000521005ENST00000394019VPS37Achr8

17111953

-SLC4A5chr2

74454220

-
intron-5UTRENST00000521005ENST00000423644VPS37Achr8

17111953

-SLC4A5chr2

74454220

-
intron-intronENST00000521005ENST00000346834VPS37Achr8

17111953

-SLC4A5chr2

74454220

-
intron-intronENST00000521005ENST00000359484VPS37Achr8

17111953

-SLC4A5chr2

74454220

-
intron-intronENST00000521005ENST00000357822VPS37Achr8

17111953

-SLC4A5chr2

74454220

-
intron-intronENST00000521005ENST00000358683VPS37Achr8

17111953

-SLC4A5chr2

74454220

-
intron-intronENST00000521005ENST00000377632VPS37Achr8

17111953

-SLC4A5chr2

74454220

-
intron-intronENST00000521005ENST00000377634VPS37Achr8

17111953

-SLC4A5chr2

74454220

-
intron-5UTRENST00000521162ENST00000483195VPS37Achr8

17111953

-SLC4A5chr2

74454220

-
intron-5UTRENST00000521162ENST00000394019VPS37Achr8

17111953

-SLC4A5chr2

74454220

-
intron-5UTRENST00000521162ENST00000423644VPS37Achr8

17111953

-SLC4A5chr2

74454220

-
intron-intronENST00000521162ENST00000346834VPS37Achr8

17111953

-SLC4A5chr2

74454220

-
intron-intronENST00000521162ENST00000359484VPS37Achr8

17111953

-SLC4A5chr2

74454220

-
intron-intronENST00000521162ENST00000357822VPS37Achr8

17111953

-SLC4A5chr2

74454220

-
intron-intronENST00000521162ENST00000358683VPS37Achr8

17111953

-SLC4A5chr2

74454220

-
intron-intronENST00000521162ENST00000377632VPS37Achr8

17111953

-SLC4A5chr2

74454220

-
intron-intronENST00000521162ENST00000377634VPS37Achr8

17111953

-SLC4A5chr2

74454220

-

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FusionProtFeatures for VPS37A_SLC4A5


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
VPS37A

Q8NEZ2

SLC4A5

Q9BY07

Component of the ESCRT-I complex, a regulator ofvesicular trafficking process. Required for the sorting ofendocytic ubiquitinated cargos into multivesicular bodies. May beinvolved in cell growth and differentiation.{ECO:0000269|PubMed:15240819}. Mediates sodium- and bicarbonate-dependent electrogenicsodium bicarbonate cotransport, with a Na(+):HCO3(-) stoichiometryof 2:1. May have a housekeeping function in regulating the pH oftissues in which it is expressed. May play a role in mediatingNa(+):HCO3(-) cotransport in hepatocytes and intrahepaticcholangiocytes. Also may be important in protecting the renalparanchyma from alterations in urine pH.{ECO:0000250|UniProtKB:Q6RI88, ECO:0000269|PubMed:11788353,ECO:0000269|PubMed:11997242, ECO:0000269|PubMed:12388414}.

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 VPS37A_SLC4A5


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 VPS37A_SLC4A5


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 VPS37A_SLC4A5


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 VPS37A_SLC4A5


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneVPS37AC3539494SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE1ORPHANET;UNIPROT