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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: 38143

FusionGeneSummary for TJP2_ATP2C1

check button Fusion gene summary
Fusion gene informationFusion gene name: TJP2_ATP2C1
Fusion gene ID: 38143
HgeneTgene
Gene symbol

TJP2

ATP2C1

Gene ID

9414

27032

Gene nametight junction protein 2ATPase secretory pathway Ca2+ transporting 1
SynonymsC9DUPq21.11|DFNA51|DUP9q21.11|PFIC4|X104|ZO2ATP2C1A|BCPM|HHD|PMR1|SPCA1|hSPCA1
Cytomap

9q21.11

3q22.1

Type of geneprotein-codingprotein-coding
Descriptiontight junction protein ZO-2Friedreich ataxia region gene X104 (tight junction protein ZO-2)zona occludens 2zonula occludens protein 2calcium-transporting ATPase type 2C member 1ATP-dependent Ca(2+) pump PMR1ATPase 2C1ATPase, Ca(2+)-sequesteringATPase, Ca++ transporting, type 2C, member 1HUSSY-28secretory pathway Ca2+/Mn2+ ATPase 1
Modification date2018052220180523
UniProtAcc

Q9UDY2

P98194

Ensembl transtripts involved in fusion geneENST00000453658, ENST00000377259, 
ENST00000377245, ENST00000348208, 
ENST00000265384, ENST00000535702, 
ENST00000539225, ENST00000498204, 
ENST00000505330, ENST00000504381, 
ENST00000507488, ENST00000393221, 
ENST00000533801, ENST00000510168, 
ENST00000508532, ENST00000504948, 
ENST00000513801, ENST00000328560, 
ENST00000428331, ENST00000359644, 
ENST00000422190, ENST00000509150, 
Fusion gene scores* DoF score5 X 4 X 7=1406 X 6 X 3=108
# samples 76
** MAII scorelog2(7/140*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(6/108*10)=-0.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: TJP2 [Title/Abstract] AND ATP2C1 [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
TgeneATP2C1

GO:0006816

calcium ion transport

12810057

TgeneATP2C1

GO:0006874

cellular calcium ion homeostasis

12810057


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
ChiTaRS3.1CV372064TJP2chr9

71851974

-ATP2C1chr3

130673881

-
* 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-shiftENST00000453658ENST00000505330TJP2chr9

71851974

-ATP2C1chr3

130673881

-
Frame-shiftENST00000453658ENST00000504381TJP2chr9

71851974

-ATP2C1chr3

130673881

-
Frame-shiftENST00000453658ENST00000507488TJP2chr9

71851974

-ATP2C1chr3

130673881

-
Frame-shiftENST00000453658ENST00000393221TJP2chr9

71851974

-ATP2C1chr3

130673881

-
Frame-shiftENST00000453658ENST00000533801TJP2chr9

71851974

-ATP2C1chr3

130673881

-
Frame-shiftENST00000453658ENST00000510168TJP2chr9

71851974

-ATP2C1chr3

130673881

-
Frame-shiftENST00000453658ENST00000508532TJP2chr9

71851974

-ATP2C1chr3

130673881

-
Frame-shiftENST00000453658ENST00000504948TJP2chr9

71851974

-ATP2C1chr3

130673881

-
Frame-shiftENST00000453658ENST00000513801TJP2chr9

71851974

-ATP2C1chr3

130673881

-
Frame-shiftENST00000453658ENST00000328560TJP2chr9

71851974

-ATP2C1chr3

130673881

-
Frame-shiftENST00000453658ENST00000428331TJP2chr9

71851974

-ATP2C1chr3

130673881

-
Frame-shiftENST00000453658ENST00000359644TJP2chr9

71851974

-ATP2C1chr3

130673881

-
Frame-shiftENST00000453658ENST00000422190TJP2chr9

71851974

-ATP2C1chr3

130673881

-
5CDS-intronENST00000453658ENST00000509150TJP2chr9

71851974

-ATP2C1chr3

130673881

-
intron-3CDSENST00000377259ENST00000505330TJP2chr9

71851974

-ATP2C1chr3

130673881

-
intron-3CDSENST00000377259ENST00000504381TJP2chr9

71851974

-ATP2C1chr3

130673881

-
intron-3CDSENST00000377259ENST00000507488TJP2chr9

71851974

-ATP2C1chr3

130673881

-
intron-3CDSENST00000377259ENST00000393221TJP2chr9

71851974

-ATP2C1chr3

130673881

-
intron-3CDSENST00000377259ENST00000533801TJP2chr9

71851974

-ATP2C1chr3

130673881

-
intron-3CDSENST00000377259ENST00000510168TJP2chr9

71851974

-ATP2C1chr3

130673881

-
intron-3CDSENST00000377259ENST00000508532TJP2chr9

71851974

-ATP2C1chr3

130673881

-
intron-3CDSENST00000377259ENST00000504948TJP2chr9

71851974

-ATP2C1chr3

130673881

-
intron-3CDSENST00000377259ENST00000513801TJP2chr9

71851974

-ATP2C1chr3

130673881

-
intron-3CDSENST00000377259ENST00000328560TJP2chr9

71851974

-ATP2C1chr3

130673881

-
intron-3CDSENST00000377259ENST00000428331TJP2chr9

71851974

-ATP2C1chr3

130673881

-
intron-3CDSENST00000377259ENST00000359644TJP2chr9

71851974

-ATP2C1chr3

130673881

-
intron-3CDSENST00000377259ENST00000422190TJP2chr9

71851974

-ATP2C1chr3

130673881

-
intron-intronENST00000377259ENST00000509150TJP2chr9

71851974

-ATP2C1chr3

130673881

-
Frame-shiftENST00000377245ENST00000505330TJP2chr9

71851974

-ATP2C1chr3

130673881

-
Frame-shiftENST00000377245ENST00000504381TJP2chr9

71851974

-ATP2C1chr3

130673881

-
Frame-shiftENST00000377245ENST00000507488TJP2chr9

71851974

-ATP2C1chr3

130673881

-
Frame-shiftENST00000377245ENST00000393221TJP2chr9

71851974

-ATP2C1chr3

130673881

-
Frame-shiftENST00000377245ENST00000533801TJP2chr9

71851974

-ATP2C1chr3

130673881

-
Frame-shiftENST00000377245ENST00000510168TJP2chr9

71851974

-ATP2C1chr3

130673881

-
Frame-shiftENST00000377245ENST00000508532TJP2chr9

71851974

-ATP2C1chr3

130673881

-
Frame-shiftENST00000377245ENST00000504948TJP2chr9

71851974

-ATP2C1chr3

130673881

-
Frame-shiftENST00000377245ENST00000513801TJP2chr9

71851974

-ATP2C1chr3

130673881

-
Frame-shiftENST00000377245ENST00000328560TJP2chr9

71851974

-ATP2C1chr3

130673881

-
Frame-shiftENST00000377245ENST00000428331TJP2chr9

71851974

-ATP2C1chr3

130673881

-
Frame-shiftENST00000377245ENST00000359644TJP2chr9

71851974

-ATP2C1chr3

130673881

-
Frame-shiftENST00000377245ENST00000422190TJP2chr9

71851974

-ATP2C1chr3

130673881

-
5CDS-intronENST00000377245ENST00000509150TJP2chr9

71851974

-ATP2C1chr3

130673881

-
Frame-shiftENST00000348208ENST00000505330TJP2chr9

71851974

-ATP2C1chr3

130673881

-
Frame-shiftENST00000348208ENST00000504381TJP2chr9

71851974

-ATP2C1chr3

130673881

-
Frame-shiftENST00000348208ENST00000507488TJP2chr9

71851974

-ATP2C1chr3

130673881

-
Frame-shiftENST00000348208ENST00000393221TJP2chr9

71851974

-ATP2C1chr3

130673881

-
Frame-shiftENST00000348208ENST00000533801TJP2chr9

71851974

-ATP2C1chr3

130673881

-
Frame-shiftENST00000348208ENST00000510168TJP2chr9

71851974

-ATP2C1chr3

130673881

-
Frame-shiftENST00000348208ENST00000508532TJP2chr9

71851974

-ATP2C1chr3

130673881

-
Frame-shiftENST00000348208ENST00000504948TJP2chr9

71851974

-ATP2C1chr3

130673881

-
Frame-shiftENST00000348208ENST00000513801TJP2chr9

71851974

-ATP2C1chr3

130673881

-
Frame-shiftENST00000348208ENST00000328560TJP2chr9

71851974

-ATP2C1chr3

130673881

-
Frame-shiftENST00000348208ENST00000428331TJP2chr9

71851974

-ATP2C1chr3

130673881

-
Frame-shiftENST00000348208ENST00000359644TJP2chr9

71851974

-ATP2C1chr3

130673881

-
Frame-shiftENST00000348208ENST00000422190TJP2chr9

71851974

-ATP2C1chr3

130673881

-
5CDS-intronENST00000348208ENST00000509150TJP2chr9

71851974

-ATP2C1chr3

130673881

-
Frame-shiftENST00000265384ENST00000505330TJP2chr9

71851974

-ATP2C1chr3

130673881

-
Frame-shiftENST00000265384ENST00000504381TJP2chr9

71851974

-ATP2C1chr3

130673881

-
Frame-shiftENST00000265384ENST00000507488TJP2chr9

71851974

-ATP2C1chr3

130673881

-
Frame-shiftENST00000265384ENST00000393221TJP2chr9

71851974

-ATP2C1chr3

130673881

-
Frame-shiftENST00000265384ENST00000533801TJP2chr9

71851974

-ATP2C1chr3

130673881

-
Frame-shiftENST00000265384ENST00000510168TJP2chr9

71851974

-ATP2C1chr3

130673881

-
Frame-shiftENST00000265384ENST00000508532TJP2chr9

71851974

-ATP2C1chr3

130673881

-
Frame-shiftENST00000265384ENST00000504948TJP2chr9

71851974

-ATP2C1chr3

130673881

-
Frame-shiftENST00000265384ENST00000513801TJP2chr9

71851974

-ATP2C1chr3

130673881

-
Frame-shiftENST00000265384ENST00000328560TJP2chr9

71851974

-ATP2C1chr3

130673881

-
Frame-shiftENST00000265384ENST00000428331TJP2chr9

71851974

-ATP2C1chr3

130673881

-
Frame-shiftENST00000265384ENST00000359644TJP2chr9

71851974

-ATP2C1chr3

130673881

-
Frame-shiftENST00000265384ENST00000422190TJP2chr9

71851974

-ATP2C1chr3

130673881

-
5CDS-intronENST00000265384ENST00000509150TJP2chr9

71851974

-ATP2C1chr3

130673881

-
Frame-shiftENST00000535702ENST00000505330TJP2chr9

71851974

-ATP2C1chr3

130673881

-
Frame-shiftENST00000535702ENST00000504381TJP2chr9

71851974

-ATP2C1chr3

130673881

-
Frame-shiftENST00000535702ENST00000507488TJP2chr9

71851974

-ATP2C1chr3

130673881

-
Frame-shiftENST00000535702ENST00000393221TJP2chr9

71851974

-ATP2C1chr3

130673881

-
Frame-shiftENST00000535702ENST00000533801TJP2chr9

71851974

-ATP2C1chr3

130673881

-
Frame-shiftENST00000535702ENST00000510168TJP2chr9

71851974

-ATP2C1chr3

130673881

-
Frame-shiftENST00000535702ENST00000508532TJP2chr9

71851974

-ATP2C1chr3

130673881

-
Frame-shiftENST00000535702ENST00000504948TJP2chr9

71851974

-ATP2C1chr3

130673881

-
Frame-shiftENST00000535702ENST00000513801TJP2chr9

71851974

-ATP2C1chr3

130673881

-
Frame-shiftENST00000535702ENST00000328560TJP2chr9

71851974

-ATP2C1chr3

130673881

-
Frame-shiftENST00000535702ENST00000428331TJP2chr9

71851974

-ATP2C1chr3

130673881

-
Frame-shiftENST00000535702ENST00000359644TJP2chr9

71851974

-ATP2C1chr3

130673881

-
Frame-shiftENST00000535702ENST00000422190TJP2chr9

71851974

-ATP2C1chr3

130673881

-
5CDS-intronENST00000535702ENST00000509150TJP2chr9

71851974

-ATP2C1chr3

130673881

-
Frame-shiftENST00000539225ENST00000505330TJP2chr9

71851974

-ATP2C1chr3

130673881

-
Frame-shiftENST00000539225ENST00000504381TJP2chr9

71851974

-ATP2C1chr3

130673881

-
Frame-shiftENST00000539225ENST00000507488TJP2chr9

71851974

-ATP2C1chr3

130673881

-
Frame-shiftENST00000539225ENST00000393221TJP2chr9

71851974

-ATP2C1chr3

130673881

-
Frame-shiftENST00000539225ENST00000533801TJP2chr9

71851974

-ATP2C1chr3

130673881

-
Frame-shiftENST00000539225ENST00000510168TJP2chr9

71851974

-ATP2C1chr3

130673881

-
Frame-shiftENST00000539225ENST00000508532TJP2chr9

71851974

-ATP2C1chr3

130673881

-
Frame-shiftENST00000539225ENST00000504948TJP2chr9

71851974

-ATP2C1chr3

130673881

-
Frame-shiftENST00000539225ENST00000513801TJP2chr9

71851974

-ATP2C1chr3

130673881

-
Frame-shiftENST00000539225ENST00000328560TJP2chr9

71851974

-ATP2C1chr3

130673881

-
Frame-shiftENST00000539225ENST00000428331TJP2chr9

71851974

-ATP2C1chr3

130673881

-
Frame-shiftENST00000539225ENST00000359644TJP2chr9

71851974

-ATP2C1chr3

130673881

-
Frame-shiftENST00000539225ENST00000422190TJP2chr9

71851974

-ATP2C1chr3

130673881

-
5CDS-intronENST00000539225ENST00000509150TJP2chr9

71851974

-ATP2C1chr3

130673881

-
intron-3CDSENST00000498204ENST00000505330TJP2chr9

71851974

-ATP2C1chr3

130673881

-
intron-3CDSENST00000498204ENST00000504381TJP2chr9

71851974

-ATP2C1chr3

130673881

-
intron-3CDSENST00000498204ENST00000507488TJP2chr9

71851974

-ATP2C1chr3

130673881

-
intron-3CDSENST00000498204ENST00000393221TJP2chr9

71851974

-ATP2C1chr3

130673881

-
intron-3CDSENST00000498204ENST00000533801TJP2chr9

71851974

-ATP2C1chr3

130673881

-
intron-3CDSENST00000498204ENST00000510168TJP2chr9

71851974

-ATP2C1chr3

130673881

-
intron-3CDSENST00000498204ENST00000508532TJP2chr9

71851974

-ATP2C1chr3

130673881

-
intron-3CDSENST00000498204ENST00000504948TJP2chr9

71851974

-ATP2C1chr3

130673881

-
intron-3CDSENST00000498204ENST00000513801TJP2chr9

71851974

-ATP2C1chr3

130673881

-
intron-3CDSENST00000498204ENST00000328560TJP2chr9

71851974

-ATP2C1chr3

130673881

-
intron-3CDSENST00000498204ENST00000428331TJP2chr9

71851974

-ATP2C1chr3

130673881

-
intron-3CDSENST00000498204ENST00000359644TJP2chr9

71851974

-ATP2C1chr3

130673881

-
intron-3CDSENST00000498204ENST00000422190TJP2chr9

71851974

-ATP2C1chr3

130673881

-
intron-intronENST00000498204ENST00000509150TJP2chr9

71851974

-ATP2C1chr3

130673881

-

Top

FusionProtFeatures for TJP2_ATP2C1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
TJP2

Q9UDY2

ATP2C1

P98194


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 TJP2_ATP2C1


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 TJP2_ATP2C1


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
TJP2YWHAG, YWHAQ, YWHAB, YWHAZ, TRAF6, SFN, OCLN, SH3KBP1, CTNNA1, TJP1, CGN, EPB41, CLDN1, HGS, RAE1, KBTBD7, SRRM2, SSTR3, SIRT7, CLDN2, UBN1, THOC5, ZMYM3, CDK6, SRPK2, SRPK1, LATS1, LATS2, KIAA1671, KIF14, PGAM5, PLOD1, YAP1, KCMF1, SNAI2, OBSL1, LUZP4, SNAI3, MAGIX, DCAF15, NUDT12, IFI30, HSPB1, LRRC47, EIF1B, MCM3, PUS7, CLK1, CEP128, CEP135, CNTRL, FBF1, ODF2, XPO1, MYO1C, MAPK8, IQGAP1, EXOSC5, MYO19, MYO18A, FBXW7, CDH1, JPH4, CDK15, CAPN13, UBE2AATP2C1ELAVL1, RNF2, HLA-DPA1, TMEM231, OGFOD3, TMEFF1, VSIG4, NTRK1, TMEM17, RAB5C, GOLT1B, FAF2, TMEM165, GTF2IRD1


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 TJP2_ATP2C1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneATP2C1P98194DB01189DesfluraneCalcium-transporting ATPase type 2C member 1small moleculeapproved
TgeneATP2C1P98194DB00228EnfluraneCalcium-transporting ATPase type 2C member 1small moleculeapproved|investigational|vet_approved
TgeneATP2C1P98194DB01028MethoxyfluraneCalcium-transporting ATPase type 2C member 1small moleculeapproved|investigational|vet_approved
TgeneATP2C1P98194DB01373CalciumCalcium-transporting ATPase type 2C member 1small moleculeapproved|nutraceutical
TgeneATP2C1P98194DB00753IsofluraneCalcium-transporting ATPase type 2C member 1small moleculeapproved|vet_approved
TgeneATP2C1P98194DB01159HalothaneCalcium-transporting ATPase type 2C member 1small moleculeapproved|vet_approved
TgeneATP2C1P98194DB01236SevofluraneCalcium-transporting ATPase type 2C member 1small moleculeapproved|vet_approved

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RelatedDiseases for TJP2_ATP2C1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneTJP2C0008372Intrahepatic Cholestasis1CTD_human;HPO
HgeneTJP2C1384666hearing impairment1CTD_human
HgeneTJP2C1843139Hypercholanemia, Familial1CTD_human;ORPHANET;UNIPROT
TgeneATP2C1C0085106Familial benign pemphigus7CTD_human;ORPHANET;UNIPROT