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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: 15232

FusionGeneSummary for GPM6B_SLC26A2

check button Fusion gene summary
Fusion gene informationFusion gene name: GPM6B_SLC26A2
Fusion gene ID: 15232
HgeneTgene
Gene symbol

GPM6B

SLC26A2

Gene ID

2824

1836

Gene nameglycoprotein M6Bsolute carrier family 26 member 2
SynonymsM6BD5S1708|DTD|DTDST|EDM4|MST153|MSTP157
Cytomap

Xp22.2

5q32

Type of geneprotein-codingprotein-coding
Descriptionneuronal membrane glycoprotein M6-bprotolipid M6Bsulfate transporterdiastrophic dysplasia proteinsolute carrier family 26 (anion exchanger), member 2solute carrier family 26 (sulfate transporter), member 2sulfate anion transporter 1
Modification date2018052320180523
UniProtAcc

Q13491

P50443

Ensembl transtripts involved in fusion geneENST00000454189, ENST00000398361, 
ENST00000316715, ENST00000493677, 
ENST00000355135, ENST00000356942, 
ENST00000286298, 
Fusion gene scores* DoF score4 X 4 X 2=322 X 2 X 1=4
# samples 64
** MAII scorelog2(6/32*10)=0.906890595608518
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(4/4*10)=3.32192809488736
Context

PubMed: GPM6B [Title/Abstract] AND SLC26A2 [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
ChiTaRS3.1BE766380GPM6BchrX

13792309

-SLC26A2chr5

149366700

+
ChiTaRS3.1BE766381GPM6BchrX

13792309

-SLC26A2chr5

149366700

+
ChiTaRS3.1BF366551GPM6BchrX

13792309

-SLC26A2chr5

149366700

+
* 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-3UTRENST00000454189ENST00000286298GPM6BchrX

13792309

-SLC26A2chr5

149366700

+
intron-3UTRENST00000398361ENST00000286298GPM6BchrX

13792309

-SLC26A2chr5

149366700

+
intron-3UTRENST00000316715ENST00000286298GPM6BchrX

13792309

-SLC26A2chr5

149366700

+
intron-3UTRENST00000493677ENST00000286298GPM6BchrX

13792309

-SLC26A2chr5

149366700

+
intron-3UTRENST00000355135ENST00000286298GPM6BchrX

13792309

-SLC26A2chr5

149366700

+
intron-3UTRENST00000356942ENST00000286298GPM6BchrX

13792309

-SLC26A2chr5

149366700

+

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FusionProtFeatures for GPM6B_SLC26A2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
GPM6B

Q13491

SLC26A2

P50443

May be involved in neural development. Involved inregulation of osteoblast function and bone formation. Involved inmatrix vesicle release by osteoblasts; this function seems toinvolve maintenance of the actin cytoskeleton. May be involved incellular trafficking of SERT and thereby in regulation ofserotonin uptake. {ECO:0000269|PubMed:21638316}. Sulfate transporter. May play a role in endochondralbone formation. {ECO:0000269|PubMed:7923357}.

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 GPM6B_SLC26A2


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 GPM6B_SLC26A2


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 GPM6B_SLC26A2


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 GPM6B_SLC26A2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneSLC26A2C1847593EPIPHYSEAL DYSPLASIA, MULTIPLE, 42CTD_human;ORPHANET;UNIPROT
TgeneSLC26A2C1850554Atelosteogenesis type 22CTD_human;ORPHANET;UNIPROT
TgeneSLC26A2C0005941Bone Diseases, Developmental1CTD_human
TgeneSLC26A2C0013447Ear Diseases1CTD_human
TgeneSLC26A2C0022821Kyphosis deformity of spine1CTD_human;HPO
TgeneSLC26A2C0265274Achondrogenesis, type IB (disorder)1CTD_human;ORPHANET;UNIPROT
TgeneSLC26A2C0376634Craniofacial Abnormalities1CTD_human