FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact

Center for Computational Systems Medicine
leaf

FusionGeneSummary

leaf

FusionProtFeature

leaf

FusionGeneSequence

leaf

FusionGenePPI

leaf

RelatedDrugs

leaf

RelatedDiseases

Fusion gene ID: 3350

FusionGeneSummary for ATP2B1_SHCBP1

check button Fusion gene summary
Fusion gene informationFusion gene name: ATP2B1_SHCBP1
Fusion gene ID: 3350
HgeneTgene
Gene symbol

ATP2B1

SHCBP1

Gene ID

490

79801

Gene nameATPase plasma membrane Ca2+ transporting 1SHC binding and spindle associated 1
SynonymsPMCA1|PMCA1kbPAL
Cytomap

12q21.33

16q11.2

Type of geneprotein-codingprotein-coding
Descriptionplasma membrane calcium-transporting ATPase 1ATPase, Ca++ transporting, plasma membrane 1plasma membrane calcium pumpSHC SH2 domain-binding protein 1Protein expressed in Activated Lymphocytes
Modification date2018052320180522
UniProtAcc

P20020

Q8NEM2

Ensembl transtripts involved in fusion geneENST00000348959, ENST00000261173, 
ENST00000359142, ENST00000428670, 
ENST00000393164, 
ENST00000303383, 
ENST00000564272, 
Fusion gene scores* DoF score13 X 9 X 6=7022 X 2 X 2=8
# samples 102
** MAII scorelog2(10/702*10)=-2.81147103052984
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(2/8*10)=1.32192809488736
Context

PubMed: ATP2B1 [Title/Abstract] AND SHCBP1 [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
HgeneATP2B1

GO:0051480

regulation of cytosolic calcium ion concentration

18029012

HgeneATP2B1

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
TCGALDBLCATCGA-FD-A3B6-01AATP2B1chr12

90049456

-SHCBP1chr16

46638373

-
* 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-shitENST00000348959ENST00000303383ATP2B1chr12

90049456

-SHCBP1chr16

46638373

-
5CDS-intronENST00000348959ENST00000564272ATP2B1chr12

90049456

-SHCBP1chr16

46638373

-
Frame-shitENST00000261173ENST00000303383ATP2B1chr12

90049456

-SHCBP1chr16

46638373

-
5CDS-intronENST00000261173ENST00000564272ATP2B1chr12

90049456

-SHCBP1chr16

46638373

-
Frame-shitENST00000359142ENST00000303383ATP2B1chr12

90049456

-SHCBP1chr16

46638373

-
5CDS-intronENST00000359142ENST00000564272ATP2B1chr12

90049456

-SHCBP1chr16

46638373

-
Frame-shitENST00000428670ENST00000303383ATP2B1chr12

90049456

-SHCBP1chr16

46638373

-
5CDS-intronENST00000428670ENST00000564272ATP2B1chr12

90049456

-SHCBP1chr16

46638373

-
intron-3CDSENST00000393164ENST00000303383ATP2B1chr12

90049456

-SHCBP1chr16

46638373

-
intron-intronENST00000393164ENST00000564272ATP2B1chr12

90049456

-SHCBP1chr16

46638373

-

Top

FusionProtFeatures for ATP2B1_SHCBP1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ATP2B1

P20020

SHCBP1

Q8NEM2

This magnesium-dependent enzyme catalyzes the hydrolysisof ATP coupled with the transport of calcium out of the cell. May play a role in signaling pathways governing cellularproliferation, cell growth and differentiation. May be a componentof a novel signaling pathway downstream of Shc. Acts as a positiveregulator of FGF signaling in neural progenitor cells.{ECO:0000250|UniProtKB:Q9Z179}.

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


Top

FusionGeneSequence for ATP2B1_SHCBP1


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).

Top

FusionGenePPI for ATP2B1_SHCBP1


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
ATP2B1TERF2, 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, CALM1SHCBP1ZUFSP, YWHAG, SFN, SHC1, USP49, CENPA, SH3KBP1, SRSF11, SOX2, NXF1, PRKCB, PSG9, KIF23, RACGAP1, KRBA1, ZNF563, ZNF574, ZNF408, PRKCA, GYPB, ZNF3, ZNF331, ZNF785, NOL9, ZNF414


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


Top

RelatedDrugs for ATP2B1_SHCBP1


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

Top

RelatedDiseases for ATP2B1_SHCBP1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneATP2B1C0020538Hypertensive disease1CTD_human
HgeneATP2B1C0086543Cataract1CTD_human
HgeneATP2B1C1956346Coronary Artery Disease1CTD_human
TgeneSHCBP1C0023893Liver Cirrhosis, Experimental1CTD_human