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: 3318

FusionGeneSummary for ATP1B1_THSD4

check button Fusion gene summary
Fusion gene informationFusion gene name: ATP1B1_THSD4
Fusion gene ID: 3318
HgeneTgene
Gene symbol

ATP1B1

THSD4

Gene ID

481

79875

Gene nameATPase Na+/K+ transporting subunit beta 1thrombospondin type 1 domain containing 4
SynonymsATP1BADAMTSL-6|ADAMTSL6|FVSY9334|PRO34005
Cytomap

1q24.2

15q23

Type of geneprotein-codingprotein-coding
Descriptionsodium/potassium-transporting ATPase subunit beta-1ATPase, Na+/K+ transporting, beta 1 polypeptideBeta 1-subunit of Na(+),K(+)-ATPaseNa, K-ATPase beta-1 polypeptideadenosinetriphosphatasesodium pump subunit beta-1sodium-potassium ATPase subunit betathrombospondin type-1 domain-containing protein 4A disintegrin and metalloproteinase with thrombospondin motifs-like protein 6ADAMTS-like protein 6thrombospondin, type I, domain containing 4
Modification date2018052320180519
UniProtAcc

P05026

Q6ZMP0

Ensembl transtripts involved in fusion geneENST00000367816, ENST00000367815, 
ENST00000499679, ENST00000367813, 
ENST00000355327, ENST00000261862, 
ENST00000357769, ENST00000567838, 
Fusion gene scores* DoF score9 X 8 X 6=43222 X 7 X 13=2002
# samples 1222
** MAII scorelog2(12/432*10)=-1.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(22/2002*10)=-3.18586654531133
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ATP1B1 [Title/Abstract] AND THSD4 [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
HgeneATP1B1

GO:0006883

cellular sodium ion homeostasis

10636900|19542013

HgeneATP1B1

GO:0010107

potassium ion import

10636900|19542013

HgeneATP1B1

GO:0030007

cellular potassium ion homeostasis

10636900|19542013

HgeneATP1B1

GO:0032781

positive regulation of ATPase activity

10636900

HgeneATP1B1

GO:0036376

sodium ion export across plasma membrane

10636900|19542013

HgeneATP1B1

GO:0046034

ATP metabolic process

23954377

HgeneATP1B1

GO:0050821

protein stabilization

10636900

HgeneATP1B1

GO:0072659

protein localization to plasma membrane

18522992

HgeneATP1B1

GO:0086009

membrane repolarization

19542013

HgeneATP1B1

GO:1901018

positive regulation of potassium ion transmembrane transporter activity

10636900

HgeneATP1B1

GO:1903278

positive regulation of sodium ion export across plasma membrane

10636900

HgeneATP1B1

GO:1903288

positive regulation of potassium ion import

10636900


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
TCGARVLIHCTCGA-DD-A4NA-01AATP1B1chr1

169101960

+THSD4chr15

72072881

+
* 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
5CDS-3UTRENST00000367816ENST00000355327ATP1B1chr1

169101960

+THSD4chr15

72072881

+
5CDS-3UTRENST00000367816ENST00000261862ATP1B1chr1

169101960

+THSD4chr15

72072881

+
5CDS-intronENST00000367816ENST00000357769ATP1B1chr1

169101960

+THSD4chr15

72072881

+
5CDS-intronENST00000367816ENST00000567838ATP1B1chr1

169101960

+THSD4chr15

72072881

+
intron-3UTRENST00000367815ENST00000355327ATP1B1chr1

169101960

+THSD4chr15

72072881

+
intron-3UTRENST00000367815ENST00000261862ATP1B1chr1

169101960

+THSD4chr15

72072881

+
intron-intronENST00000367815ENST00000357769ATP1B1chr1

169101960

+THSD4chr15

72072881

+
intron-intronENST00000367815ENST00000567838ATP1B1chr1

169101960

+THSD4chr15

72072881

+
intron-3UTRENST00000499679ENST00000355327ATP1B1chr1

169101960

+THSD4chr15

72072881

+
intron-3UTRENST00000499679ENST00000261862ATP1B1chr1

169101960

+THSD4chr15

72072881

+
intron-intronENST00000499679ENST00000357769ATP1B1chr1

169101960

+THSD4chr15

72072881

+
intron-intronENST00000499679ENST00000567838ATP1B1chr1

169101960

+THSD4chr15

72072881

+
intron-3UTRENST00000367813ENST00000355327ATP1B1chr1

169101960

+THSD4chr15

72072881

+
intron-3UTRENST00000367813ENST00000261862ATP1B1chr1

169101960

+THSD4chr15

72072881

+
intron-intronENST00000367813ENST00000357769ATP1B1chr1

169101960

+THSD4chr15

72072881

+
intron-intronENST00000367813ENST00000567838ATP1B1chr1

169101960

+THSD4chr15

72072881

+

Top

FusionProtFeatures for ATP1B1_THSD4


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ATP1B1

P05026

THSD4

Q6ZMP0

This is the non-catalytic component of the activeenzyme, which catalyzes the hydrolysis of ATP coupled with theexchange of Na(+) and K(+) ions across the plasma membrane. Thebeta subunit regulates, through assembly of alpha/betaheterodimers, the number of sodium pumps transported to the plasmamembrane. {ECO:0000269|PubMed:19694409}. Involved in cell adhesion and establishing epithelialcell polarity. {ECO:0000269|PubMed:19694409}. Promotes FBN1 matrix assembly. Attenuates TGFBsignaling, possibly by accelerating the sequestration of largelatent complexes of TGFB or active TGFB by FBN1 microfibrilassembly, thereby negatively regulating the expression of TGFBregulatory targets, such as POSTN (By similarity). {ECO:0000250}.

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 ATP1B1_THSD4


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 ATP1B1_THSD4


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
ATP1B1FXYD1, LRIF1, NDRG2, HLA-DRA, HLA-DRB1, HLA-DRB3, HLA-DRB4, HLA-DRB5, KMT2B, TRMT2A, DDAH2, PSME1, CRIP2, EZH2, ELAVL1, NEDD4L, USP4, GCH1, BARD1, BRCA1, PAXIP1, ATP4A, EGFR, CCDC8, ACAA2, ACAT1, ATP1A1, ACO2, ATP6V1E1, DLD, HADHA, HADHB, HNRNPA2B1, HNRNPA3, HSD17B10, ILVBL, LMAN1, MRPS35, PDHA1, RAB1A, RTN4, SDHA, ATP2A2, ATP5F1, ATP5L, CANX, COX6B1, CPT2, CTSD, CYC1, DLAT, EIF4H, FUBP1, HSD17B12, MTCH1, MTCH2, NDUFA12, NDUFA2, NDUFS1, NDUFS3, NDUFV1, PSMD6, RAB1B, RPL26, RPS19, TOMM40, UQCRB, UQCRFS1, UQCRQ, VDAC1, NTRK1, TSC22D2, PDCD5, TRIM25THSD4ZNF195, ALMS1, KRBA1, CEP164, GLI3, ZNF609, FOXG1, APPBP2, HSPA8, USP54, OFD1, RIPK1, ARID5B, MLF1, NUFIP2, HELZ, KANK2, VSIG8, HSPA2


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 ATP1B1_THSD4


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 ATP1B1_THSD4


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneATP1B1C0023467Leukemia, Myelocytic, Acute1CTD_human
HgeneATP1B1C0236969Substance-Related Disorders1CTD_human
TgeneTHSD4C0236969Substance-Related Disorders1CTD_human