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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: 1867

FusionGeneSummary for ANKRD50_ATP2B1

check button Fusion gene summary
Fusion gene informationFusion gene name: ANKRD50_ATP2B1
Fusion gene ID: 1867
HgeneTgene
Gene symbol

ANKRD50

ATP2B1

Gene ID

57182

490

Gene nameankyrin repeat domain 50ATPase plasma membrane Ca2+ transporting 1
Synonyms-PMCA1|PMCA1kb
Cytomap

4q28.1

12q21.33

Type of geneprotein-codingprotein-coding
Descriptionankyrin repeat domain-containing protein 50plasma membrane calcium-transporting ATPase 1ATPase, Ca++ transporting, plasma membrane 1plasma membrane calcium pump
Modification date2018052220180523
UniProtAcc

Q9ULJ7

P20020

Ensembl transtripts involved in fusion geneENST00000504087, ENST00000515641, 
ENST00000348959, ENST00000261173, 
ENST00000359142, ENST00000428670, 
ENST00000393164, 
Fusion gene scores* DoF score2 X 2 X 2=84 X 4 X 4=64
# samples 24
** MAII scorelog2(2/8*10)=1.32192809488736log2(4/64*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ANKRD50 [Title/Abstract] AND ATP2B1 [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
TgeneATP2B1

GO:0051480

regulation of cytosolic calcium ion concentration

18029012

TgeneATP2B1

GO:1990034

calcium ion export across plasma membrane

18029012


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
TCGALDBRCATCGA-E2-A14R-01AANKRD50chr4

125631155

-ATP2B1chr12

90029028

-
* 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
Frame-shiftENST00000504087ENST00000348959ANKRD50chr4

125631155

-ATP2B1chr12

90029028

-
Frame-shiftENST00000504087ENST00000261173ANKRD50chr4

125631155

-ATP2B1chr12

90029028

-
Frame-shiftENST00000504087ENST00000359142ANKRD50chr4

125631155

-ATP2B1chr12

90029028

-
Frame-shiftENST00000504087ENST00000428670ANKRD50chr4

125631155

-ATP2B1chr12

90029028

-
5CDS-intronENST00000504087ENST00000393164ANKRD50chr4

125631155

-ATP2B1chr12

90029028

-
intron-3CDSENST00000515641ENST00000348959ANKRD50chr4

125631155

-ATP2B1chr12

90029028

-
intron-3CDSENST00000515641ENST00000261173ANKRD50chr4

125631155

-ATP2B1chr12

90029028

-
intron-3CDSENST00000515641ENST00000359142ANKRD50chr4

125631155

-ATP2B1chr12

90029028

-
intron-3CDSENST00000515641ENST00000428670ANKRD50chr4

125631155

-ATP2B1chr12

90029028

-
intron-intronENST00000515641ENST00000393164ANKRD50chr4

125631155

-ATP2B1chr12

90029028

-

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FusionProtFeatures for ANKRD50_ATP2B1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ANKRD50

Q9ULJ7

ATP2B1

P20020

Involved in the endosome-to-plasma membrane traffickingand recycling of SNX27-retromer-dependent cargo proteins, such asGLUT1 (PubMed:25278552). This magnesium-dependent enzyme catalyzes the hydrolysisof ATP coupled with the transport of calcium out of the cell.

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 ANKRD50_ATP2B1


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 ANKRD50_ATP2B1


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
ANKRD50APP, ZDHHC17, ARL13B, CLNK, XPO1, SMURF1, ZNF414, DDX41, C4orf26, PTPN14ATP2B1TERF2, CSNK2A1, ERBB2IP, PARK2, LGR4, PTPLAD1, CCDC8, RNF2, EGFR, HSD17B6, UNK, ATP1A1, GNB2, HM13, IDH3A, CANX, CLGN, NTRK1, NPHP1, RPGRIP1L, TMEM17, CCND1, SRPR, RAB7A, TOMM40, ATL3, TMEM63B, CENPO, TUBA1C, ETS1, CDH1, CTDSPL, TRIM25, CALM1


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 ANKRD50_ATP2B1


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 ANKRD50_ATP2B1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneATP2B1C0020538Hypertensive disease1CTD_human
TgeneATP2B1C0086543Cataract1CTD_human
TgeneATP2B1C1956346Coronary Artery Disease1CTD_human