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: 1894

FusionGeneSummary for ANKS1B_PTPRQ

check button Fusion gene summary
Fusion gene informationFusion gene name: ANKS1B_PTPRQ
Fusion gene ID: 1894
HgeneTgene
Gene symbol

ANKS1B

PTPRQ

Gene ID

56899

374462

Gene nameankyrin repeat and sterile alpha motif domain containing 1Bprotein tyrosine phosphatase, receptor type Q
SynonymsAIDA|AIDA-1|ANKS2|EB-1|EB1|cajalin-2DFNA73|DFNB84|DFNB84A|PTPGMC1|R-PTP-Q
Cytomap

12q23.1

12q21.31

Type of geneprotein-codingprotein-coding
Descriptionankyrin repeat and sterile alpha motif domain-containing protein 1BE2a-Pbx1-associated proteinamyloid-beta precursor protein intracellular domain associated protein 1cajalin 2phosphatidylinositol phosphatase PTPRQphosphotidylinositol phosphatase PTPRQprotein-tyrosine phosphatase, receptor-type, expressed by glomerular mesangial cells
Modification date2018051920180519
UniProtAcc

Q7Z6G8

Q9UMZ3

Ensembl transtripts involved in fusion geneENST00000547776, ENST00000329257, 
ENST00000547010, ENST00000341752, 
ENST00000549558, ENST00000550693, 
ENST00000549025, ENST00000549493, 
ENST00000547446, ENST00000333732, 
ENST00000546568, ENST00000332712, 
ENST00000546960, ENST00000550833, 
ENST00000266688, ENST00000547485, 
Fusion gene scores* DoF score11 X 9 X 5=4958 X 6 X 4=192
# samples 116
** MAII scorelog2(11/495*10)=-2.16992500144231
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(6/192*10)=-1.67807190511264
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ANKS1B [Title/Abstract] AND PTPRQ [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
TgenePTPRQ

GO:0045598

regulation of fat cell differentiation

19351528


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
TCGARVMESOTCGA-UD-AAC4-01AANKS1Bchr12

100377882

-PTPRQchr12

80981908

+
* 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-shiftENST00000547776ENST00000266688ANKS1Bchr12

100377882

-PTPRQchr12

80981908

+
5CDS-intronENST00000547776ENST00000547485ANKS1Bchr12

100377882

-PTPRQchr12

80981908

+
Frame-shiftENST00000329257ENST00000266688ANKS1Bchr12

100377882

-PTPRQchr12

80981908

+
5CDS-intronENST00000329257ENST00000547485ANKS1Bchr12

100377882

-PTPRQchr12

80981908

+
5UTR-3CDSENST00000547010ENST00000266688ANKS1Bchr12

100377882

-PTPRQchr12

80981908

+
5UTR-intronENST00000547010ENST00000547485ANKS1Bchr12

100377882

-PTPRQchr12

80981908

+
intron-3CDSENST00000341752ENST00000266688ANKS1Bchr12

100377882

-PTPRQchr12

80981908

+
intron-intronENST00000341752ENST00000547485ANKS1Bchr12

100377882

-PTPRQchr12

80981908

+
intron-3CDSENST00000549558ENST00000266688ANKS1Bchr12

100377882

-PTPRQchr12

80981908

+
intron-intronENST00000549558ENST00000547485ANKS1Bchr12

100377882

-PTPRQchr12

80981908

+
intron-3CDSENST00000550693ENST00000266688ANKS1Bchr12

100377882

-PTPRQchr12

80981908

+
intron-intronENST00000550693ENST00000547485ANKS1Bchr12

100377882

-PTPRQchr12

80981908

+
intron-3CDSENST00000549025ENST00000266688ANKS1Bchr12

100377882

-PTPRQchr12

80981908

+
intron-intronENST00000549025ENST00000547485ANKS1Bchr12

100377882

-PTPRQchr12

80981908

+
intron-3CDSENST00000549493ENST00000266688ANKS1Bchr12

100377882

-PTPRQchr12

80981908

+
intron-intronENST00000549493ENST00000547485ANKS1Bchr12

100377882

-PTPRQchr12

80981908

+
intron-3CDSENST00000547446ENST00000266688ANKS1Bchr12

100377882

-PTPRQchr12

80981908

+
intron-intronENST00000547446ENST00000547485ANKS1Bchr12

100377882

-PTPRQchr12

80981908

+
intron-3CDSENST00000333732ENST00000266688ANKS1Bchr12

100377882

-PTPRQchr12

80981908

+
intron-intronENST00000333732ENST00000547485ANKS1Bchr12

100377882

-PTPRQchr12

80981908

+
intron-3CDSENST00000546568ENST00000266688ANKS1Bchr12

100377882

-PTPRQchr12

80981908

+
intron-intronENST00000546568ENST00000547485ANKS1Bchr12

100377882

-PTPRQchr12

80981908

+
intron-3CDSENST00000332712ENST00000266688ANKS1Bchr12

100377882

-PTPRQchr12

80981908

+
intron-intronENST00000332712ENST00000547485ANKS1Bchr12

100377882

-PTPRQchr12

80981908

+
intron-3CDSENST00000546960ENST00000266688ANKS1Bchr12

100377882

-PTPRQchr12

80981908

+
intron-intronENST00000546960ENST00000547485ANKS1Bchr12

100377882

-PTPRQchr12

80981908

+
intron-3CDSENST00000550833ENST00000266688ANKS1Bchr12

100377882

-PTPRQchr12

80981908

+
intron-intronENST00000550833ENST00000547485ANKS1Bchr12

100377882

-PTPRQchr12

80981908

+

Top

FusionProtFeatures for ANKS1B_PTPRQ


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ANKS1B

Q7Z6G8

PTPRQ

Q9UMZ3

Phosphatidylinositol phosphatase required for auditoryfunction. May act by regulating the level of phosphatidylinositol4,5-bisphosphate (PIP2) level in the basal region of hair bundles.Can dephosphorylate a broad range of phosphatidylinositolphosphates, including phosphatidylinositol 3,4,5-trisphosphate andmost phosphatidylinositol monophosphates and diphosphates.Phosphate can be hydrolyzed from the D3 and D5 positions in theinositol ring. Has low tyrosine-protein phosphatase activity;however, the relevance of such activity in vivo is unclear. Playsan important role in adipogenesis of mesenchymal stem cells(MSCs). Regulates the phosphorylation state of AKT1 by suppressingthe phosphatidylinositol 3,4,5-trisphosphate (PIP3) level in MSCsand preadipocyte cells. {ECO:0000269|PubMed:19351528}.

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 ANKS1B_PTPRQ


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 ANKS1B_PTPRQ


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
ANKS1BLRP2, UBC, LRP1, APP, EGFR, ERBB2, ERBB4, EPHA8, RIN1PTPRQEEA1, PIBF1, SNX27, SLC9A3R1, AHI1, ATP2B2, SLC9A3R2, EZR


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 ANKS1B_PTPRQ


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 ANKS1B_PTPRQ


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneANKS1BC0019202Hepatolenticular Degeneration1CTD_human
TgenePTPRQC3150654DEAFNESS, AUTOSOMAL RECESSIVE 84A1CTD_human;UNIPROT