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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: 3324

FusionGeneSummary for ATP2A1_ATXN2L

check button Fusion gene summary
Fusion gene informationFusion gene name: ATP2A1_ATXN2L
Fusion gene ID: 3324
HgeneTgene
Gene symbol

ATP2A1

ATXN2L

Gene ID

487

11273

Gene nameATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1ataxin 2 like
SynonymsATP2A|SERCA1A2D|A2LG|A2LP|A2RP
Cytomap

16p11.2

16p11.2

Type of geneprotein-codingprotein-coding
Descriptionsarcoplasmic/endoplasmic reticulum calcium ATPase 1ATPase, Ca++ transporting, cardiac muscle, fast twitch 1SR Ca(2+)-ATPase 1calcium pump 1calcium-transporting ATPase sarcoplasmic reticulum type, fast twitch skeletal muscle isoformendoplasmic reticulataxin-2-like proteinataxin 2 related proteinataxin-2 domain protein
Modification date2018052320180523
UniProtAcc

O14983

Q8WWM7

Ensembl transtripts involved in fusion geneENST00000357084, ENST00000395503, 
ENST00000536376, ENST00000565042, 
ENST00000340394, ENST00000325215, 
ENST00000382686, ENST00000395547, 
ENST00000336783, ENST00000564304, 
ENST00000570200, ENST00000565845, 
Fusion gene scores* DoF score1 X 1 X 1=11 X 1 X 1=1
# samples 11
** MAII scorelog2(1/1*10)=3.32192809488736log2(1/1*10)=3.32192809488736
Context

PubMed: ATP2A1 [Title/Abstract] AND ATXN2L [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
HgeneATP2A1

GO:0031448

positive regulation of fast-twitch skeletal muscle fiber contraction

12479237

HgeneATP2A1

GO:0090076

relaxation of skeletal muscle

8841193

TgeneATXN2L

GO:0010603

regulation of cytoplasmic mRNA processing body assembly

23209657


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
TCGARVCESCTCGA-HM-A6W2-06AATP2A1chr16

28912237

+ATXN2Lchr16

28846379

+
* 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
In-frameENST00000357084ENST00000340394ATP2A1chr16

28912237

+ATXN2Lchr16

28846379

+
In-frameENST00000357084ENST00000325215ATP2A1chr16

28912237

+ATXN2Lchr16

28846379

+
In-frameENST00000357084ENST00000382686ATP2A1chr16

28912237

+ATXN2Lchr16

28846379

+
In-frameENST00000357084ENST00000395547ATP2A1chr16

28912237

+ATXN2Lchr16

28846379

+
In-frameENST00000357084ENST00000336783ATP2A1chr16

28912237

+ATXN2Lchr16

28846379

+
In-frameENST00000357084ENST00000564304ATP2A1chr16

28912237

+ATXN2Lchr16

28846379

+
In-frameENST00000357084ENST00000570200ATP2A1chr16

28912237

+ATXN2Lchr16

28846379

+
5CDS-3UTRENST00000357084ENST00000565845ATP2A1chr16

28912237

+ATXN2Lchr16

28846379

+
In-frameENST00000395503ENST00000340394ATP2A1chr16

28912237

+ATXN2Lchr16

28846379

+
In-frameENST00000395503ENST00000325215ATP2A1chr16

28912237

+ATXN2Lchr16

28846379

+
In-frameENST00000395503ENST00000382686ATP2A1chr16

28912237

+ATXN2Lchr16

28846379

+
In-frameENST00000395503ENST00000395547ATP2A1chr16

28912237

+ATXN2Lchr16

28846379

+
In-frameENST00000395503ENST00000336783ATP2A1chr16

28912237

+ATXN2Lchr16

28846379

+
In-frameENST00000395503ENST00000564304ATP2A1chr16

28912237

+ATXN2Lchr16

28846379

+
In-frameENST00000395503ENST00000570200ATP2A1chr16

28912237

+ATXN2Lchr16

28846379

+
5CDS-3UTRENST00000395503ENST00000565845ATP2A1chr16

28912237

+ATXN2Lchr16

28846379

+
In-frameENST00000536376ENST00000340394ATP2A1chr16

28912237

+ATXN2Lchr16

28846379

+
In-frameENST00000536376ENST00000325215ATP2A1chr16

28912237

+ATXN2Lchr16

28846379

+
In-frameENST00000536376ENST00000382686ATP2A1chr16

28912237

+ATXN2Lchr16

28846379

+
In-frameENST00000536376ENST00000395547ATP2A1chr16

28912237

+ATXN2Lchr16

28846379

+
In-frameENST00000536376ENST00000336783ATP2A1chr16

28912237

+ATXN2Lchr16

28846379

+
In-frameENST00000536376ENST00000564304ATP2A1chr16

28912237

+ATXN2Lchr16

28846379

+
In-frameENST00000536376ENST00000570200ATP2A1chr16

28912237

+ATXN2Lchr16

28846379

+
5CDS-3UTRENST00000536376ENST00000565845ATP2A1chr16

28912237

+ATXN2Lchr16

28846379

+
intron-3CDSENST00000565042ENST00000340394ATP2A1chr16

28912237

+ATXN2Lchr16

28846379

+
intron-3CDSENST00000565042ENST00000325215ATP2A1chr16

28912237

+ATXN2Lchr16

28846379

+
intron-3CDSENST00000565042ENST00000382686ATP2A1chr16

28912237

+ATXN2Lchr16

28846379

+
intron-3CDSENST00000565042ENST00000395547ATP2A1chr16

28912237

+ATXN2Lchr16

28846379

+
intron-3CDSENST00000565042ENST00000336783ATP2A1chr16

28912237

+ATXN2Lchr16

28846379

+
intron-3CDSENST00000565042ENST00000564304ATP2A1chr16

28912237

+ATXN2Lchr16

28846379

+
intron-3CDSENST00000565042ENST00000570200ATP2A1chr16

28912237

+ATXN2Lchr16

28846379

+
intron-3UTRENST00000565042ENST00000565845ATP2A1chr16

28912237

+ATXN2Lchr16

28846379

+

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FusionProtFeatures for ATP2A1_ATXN2L


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ATP2A1

O14983

ATXN2L

Q8WWM7

Key regulator of striated muscle performance by actingas the major Ca(2+) ATPase responsible for the reuptake ofcytosolic Ca(2+) into the sarcoplasmic reticulum. Catalyzes thehydrolysis of ATP coupled with the translocation of calcium fromthe cytosol to the sarcoplasmic reticulum lumen. Contributes tocalcium sequestration involved in muscular excitation/contraction.{ECO:0000250|UniProtKB:Q8R429}.

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
HgeneATP2A1chr16:28912237chr16:28846379ENST00000357084+1522111_2537001002Topological domainCytoplasmic
HgeneATP2A1chr16:28912237chr16:28846379ENST00000357084+15221_487001002Topological domainCytoplasmic
HgeneATP2A1chr16:28912237chr16:28846379ENST00000357084+1522274_2957001002Topological domainLumenal
HgeneATP2A1chr16:28912237chr16:28846379ENST00000357084+152270_897001002Topological domainLumenal
HgeneATP2A1chr16:28912237chr16:28846379ENST00000395503+1523111_2537001004Topological domainCytoplasmic
HgeneATP2A1chr16:28912237chr16:28846379ENST00000395503+15231_487001004Topological domainCytoplasmic
HgeneATP2A1chr16:28912237chr16:28846379ENST00000395503+1523274_2957001004Topological domainLumenal
HgeneATP2A1chr16:28912237chr16:28846379ENST00000395503+152370_897001004Topological domainLumenal
HgeneATP2A1chr16:28912237chr16:28846379ENST00000357084+1522254_2737001002TransmembraneHelical%3B Name%3D3
HgeneATP2A1chr16:28912237chr16:28846379ENST00000357084+1522296_3137001002TransmembraneHelical%3B Name%3D4
HgeneATP2A1chr16:28912237chr16:28846379ENST00000357084+152249_697001002TransmembraneHelical%3B Name%3D1
HgeneATP2A1chr16:28912237chr16:28846379ENST00000357084+152290_1107001002TransmembraneHelical%3B Name%3D2
HgeneATP2A1chr16:28912237chr16:28846379ENST00000395503+1523254_2737001004TransmembraneHelical%3B Name%3D3
HgeneATP2A1chr16:28912237chr16:28846379ENST00000395503+1523296_3137001004TransmembraneHelical%3B Name%3D4
HgeneATP2A1chr16:28912237chr16:28846379ENST00000395503+152349_697001004TransmembraneHelical%3B Name%3D1
HgeneATP2A1chr16:28912237chr16:28846379ENST00000395503+152390_1107001004TransmembraneHelical%3B Name%3D2

- In-frame and not-retained protein feature among the 13 regional features.
>>>>>>>>>>>>>>>>>>>>>>>>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneATP2A1chr16:28912237chr16:28846379ENST00000357084+1522314_7577001002Topological domainCytoplasmic
HgeneATP2A1chr16:28912237chr16:28846379ENST00000357084+1522778_7877001002Topological domainLumenal
HgeneATP2A1chr16:28912237chr16:28846379ENST00000357084+1522809_8287001002Topological domainCytoplasmic
HgeneATP2A1chr16:28912237chr16:28846379ENST00000357084+1522852_8977001002Topological domainLumenal
HgeneATP2A1chr16:28912237chr16:28846379ENST00000357084+1522918_9307001002Topological domainCytoplasmic
HgeneATP2A1chr16:28912237chr16:28846379ENST00000357084+1522950_9647001002Topological domainLumenal
HgeneATP2A1chr16:28912237chr16:28846379ENST00000357084+1522986_10017001002Topological domainCytoplasmic
HgeneATP2A1chr16:28912237chr16:28846379ENST00000395503+1523314_7577001004Topological domainCytoplasmic
HgeneATP2A1chr16:28912237chr16:28846379ENST00000395503+1523778_7877001004Topological domainLumenal
HgeneATP2A1chr16:28912237chr16:28846379ENST00000395503+1523809_8287001004Topological domainCytoplasmic
HgeneATP2A1chr16:28912237chr16:28846379ENST00000395503+1523852_8977001004Topological domainLumenal
HgeneATP2A1chr16:28912237chr16:28846379ENST00000395503+1523918_9307001004Topological domainCytoplasmic
HgeneATP2A1chr16:28912237chr16:28846379ENST00000395503+1523950_9647001004Topological domainLumenal
HgeneATP2A1chr16:28912237chr16:28846379ENST00000395503+1523986_10017001004Topological domainCytoplasmic
HgeneATP2A1chr16:28912237chr16:28846379ENST00000357084+1522758_7777001002TransmembraneHelical%3B Name%3D5
HgeneATP2A1chr16:28912237chr16:28846379ENST00000357084+1522829_8517001002TransmembraneHelical%3B Name%3D7
HgeneATP2A1chr16:28912237chr16:28846379ENST00000357084+1522898_9177001002TransmembraneHelical%3B Name%3D8
HgeneATP2A1chr16:28912237chr16:28846379ENST00000357084+1522931_9497001002TransmembraneHelical%3B Name%3D9
HgeneATP2A1chr16:28912237chr16:28846379ENST00000357084+1522965_9857001002TransmembraneHelical%3B Name%3D10
HgeneATP2A1chr16:28912237chr16:28846379ENST00000395503+1523758_7777001004TransmembraneHelical%3B Name%3D5
HgeneATP2A1chr16:28912237chr16:28846379ENST00000395503+1523829_8517001004TransmembraneHelical%3B Name%3D7
HgeneATP2A1chr16:28912237chr16:28846379ENST00000395503+1523898_9177001004TransmembraneHelical%3B Name%3D8
HgeneATP2A1chr16:28912237chr16:28846379ENST00000395503+1523931_9497001004TransmembraneHelical%3B Name%3D9
HgeneATP2A1chr16:28912237chr16:28846379ENST00000395503+1523965_9857001004TransmembraneHelical%3B Name%3D10
TgeneATXN2Lchr16:28912237chr16:28846379ENST00000325215+17234_848111063Compositional biasNote=Pro-rich
TgeneATXN2Lchr16:28912237chr16:28846379ENST00000336783+17224_848111076Compositional biasNote=Pro-rich
TgeneATXN2Lchr16:28912237chr16:28846379ENST00000340394+17234_848111045Compositional biasNote=Pro-rich
TgeneATXN2Lchr16:28912237chr16:28846379ENST00000382686+17234_848111045Compositional biasNote=Pro-rich
TgeneATXN2Lchr16:28912237chr16:28846379ENST00000395547+17244_848111112Compositional biasNote=Pro-rich
TgeneATXN2Lchr16:28912237chr16:28846379ENST00000570200+17234_848111063Compositional biasNote=Pro-rich


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FusionGeneSequence for ATP2A1_ATXN2L


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 ATP2A1_ATXN2L


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
ATP2A1SLN, PLN, PCK1, CUL3, ITPR3, CFTR, WWOX, LGR4, ROGDI, GCNT2, SETDB1, ATOH1, LRRCC1, VNN2, TLE3, HIST1H4A, HMGB1, GRTP1, COX15, DLST, PDHA1ATXN2LMPL, EPOR, G3BP1, G3BP2, POT1, PPP2R2D, PPP2R2B, SIRT7, ISG15, CUL3, ATXN1, SMAD3, VCAM1, ITGA4, CFTR, HADHA, TARDBP, AP2M1, DDX6, FUS, BMI1, ABCE1, KLHL20, ADA, DDX17, DDX5, GALNS, KHDRBS1, SLC9A3R2, LSM12, PABPC1, PABPC4, NTRK1, STK17B, TCEAL4, MEX3C, CDH1, NUFIP2, BRCA1


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with
HgeneATP2A1chr16:28912237chr16:28846379ENST00000357084+1522370_4007001002phospholamban 1
HgeneATP2A1chr16:28912237chr16:28846379ENST00000395503+1523370_4007001004phospholamban 1


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with
HgeneATP2A1chr16:28912237chr16:28846379ENST00000357084+1522788_8087001002phospholamban 2
HgeneATP2A1chr16:28912237chr16:28846379ENST00000395503+1523788_8087001004phospholamban 2
TgeneATXN2Lchr16:28912237chr16:28846379ENST00000325215+172398_1218111063MPL
TgeneATXN2Lchr16:28912237chr16:28846379ENST00000336783+172298_1218111076MPL
TgeneATXN2Lchr16:28912237chr16:28846379ENST00000340394+172398_1218111045MPL
TgeneATXN2Lchr16:28912237chr16:28846379ENST00000382686+172398_1218111045MPL
TgeneATXN2Lchr16:28912237chr16:28846379ENST00000395547+172498_1218111112MPL
TgeneATXN2Lchr16:28912237chr16:28846379ENST00000570200+172398_1218111063MPL


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for ATP2A1_ATXN2L


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 ATP2A1_ATXN2L


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneATP2A1C0018801Heart failure1CTD_human
HgeneATP2A1C1832918Brody myopathy1CTD_human;ORPHANET;UNIPROT