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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: 40286

FusionGeneSummary for UACA_PTPN6

check button Fusion gene summary
Fusion gene informationFusion gene name: UACA_PTPN6
Fusion gene ID: 40286
HgeneTgene
Gene symbol

UACA

PTPN6

Gene ID

55075

5777

Gene nameuveal autoantigen with coiled-coil domains and ankyrin repeatsprotein tyrosine phosphatase, non-receptor type 6
SynonymsNUCLINGHCP|HCPH|HPTP1C|PTP-1C|SH-PTP1|SHP-1|SHP-1L|SHP1
Cytomap

15q23

12p13.31

Type of geneprotein-codingprotein-coding
Descriptionuveal autoantigen with coiled-coil domains and ankyrin repeatsnuclear membrane binding proteintyrosine-protein phosphatase non-receptor type 6hematopoietic cell phosphatasehematopoietic cell protein-tyrosine phosphataseprotein-tyrosine phosphatase 1Cprotein-tyrosine phosphatase SHP-1
Modification date2018051920180527
UniProtAcc

Q9BZF9

P29350

Ensembl transtripts involved in fusion geneENST00000322954, ENST00000539319, 
ENST00000379983, ENST00000560441, 
ENST00000559183, 		ENST00000399448, 
ENST00000447931, ENST00000318974, 
ENST00000456013, ENST00000539029, 
Fusion gene scores* DoF score6 X 4 X 6=1444 X 4 X 3=48
# samples 64
** MAII scorelog2(6/144*10)=-1.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(4/48*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: UACA [Title/Abstract] AND PTPN6 [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
TgenePTPN6

GO:0006470

protein dephosphorylation

11266449

TgenePTPN6

GO:0008283

cell proliferation

11266449

TgenePTPN6

GO:0018108

peptidyl-tyrosine phosphorylation

9285411|18802077

TgenePTPN6

GO:0030154

cell differentiation

11266449

TgenePTPN6

GO:0070372

regulation of ERK1 and ERK2 cascade

11266449


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-2Y-A9H0-01AUACAchr15

70987356

-PTPN6chr12

7069090

+
* 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-shiftENST00000322954ENST00000399448UACAchr15

70987356

-PTPN6chr12

7069090

+
Frame-shiftENST00000322954ENST00000447931UACAchr15

70987356

-PTPN6chr12

7069090

+
Frame-shiftENST00000322954ENST00000318974UACAchr15

70987356

-PTPN6chr12

7069090

+
Frame-shiftENST00000322954ENST00000456013UACAchr15

70987356

-PTPN6chr12

7069090

+
5CDS-3UTRENST00000322954ENST00000539029UACAchr15

70987356

-PTPN6chr12

7069090

+
Frame-shiftENST00000539319ENST00000399448UACAchr15

70987356

-PTPN6chr12

7069090

+
Frame-shiftENST00000539319ENST00000447931UACAchr15

70987356

-PTPN6chr12

7069090

+
Frame-shiftENST00000539319ENST00000318974UACAchr15

70987356

-PTPN6chr12

7069090

+
Frame-shiftENST00000539319ENST00000456013UACAchr15

70987356

-PTPN6chr12

7069090

+
5CDS-3UTRENST00000539319ENST00000539029UACAchr15

70987356

-PTPN6chr12

7069090

+
Frame-shiftENST00000379983ENST00000399448UACAchr15

70987356

-PTPN6chr12

7069090

+
Frame-shiftENST00000379983ENST00000447931UACAchr15

70987356

-PTPN6chr12

7069090

+
Frame-shiftENST00000379983ENST00000318974UACAchr15

70987356

-PTPN6chr12

7069090

+
Frame-shiftENST00000379983ENST00000456013UACAchr15

70987356

-PTPN6chr12

7069090

+
5CDS-3UTRENST00000379983ENST00000539029UACAchr15

70987356

-PTPN6chr12

7069090

+
Frame-shiftENST00000560441ENST00000399448UACAchr15

70987356

-PTPN6chr12

7069090

+
Frame-shiftENST00000560441ENST00000447931UACAchr15

70987356

-PTPN6chr12

7069090

+
Frame-shiftENST00000560441ENST00000318974UACAchr15

70987356

-PTPN6chr12

7069090

+
Frame-shiftENST00000560441ENST00000456013UACAchr15

70987356

-PTPN6chr12

7069090

+
5CDS-3UTRENST00000560441ENST00000539029UACAchr15

70987356

-PTPN6chr12

7069090

+
intron-3CDSENST00000559183ENST00000399448UACAchr15

70987356

-PTPN6chr12

7069090

+
intron-3CDSENST00000559183ENST00000447931UACAchr15

70987356

-PTPN6chr12

7069090

+
intron-3CDSENST00000559183ENST00000318974UACAchr15

70987356

-PTPN6chr12

7069090

+
intron-3CDSENST00000559183ENST00000456013UACAchr15

70987356

-PTPN6chr12

7069090

+
intron-3UTRENST00000559183ENST00000539029UACAchr15

70987356

-PTPN6chr12

7069090

+

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FusionProtFeatures for UACA_PTPN6


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

Q9BZF9

PTPN6

P29350

Regulates APAF1 expression and plays an important rolein the regulation of stress-induced apoptosis. Promotes apoptosisby regulating three pathways, apoptosome up-regulation,LGALS3/galectin-3 down-regulation and NF-kappa-B inactivation.Regulates the redistribution of APAF1 into the nucleus afterproapoptotic stress. Down-regulates the expression of LGALS3 byinhibiting NFKB1 (By similarity). {ECO:0000250}. Modulates isoactin dynamics to regulate themorphological alterations required for cell growth and motility.Interaction with ARF6 may modulate cell shape and motility afterinjury. May be involved in multiple neurite formation (Bysimilarity). {ECO:0000250|UniProtKB:Q8CGB3,ECO:0000250|UniProtKB:Q8HYY4}. Modulates signaling by tyrosine phosphorylated cellsurface receptors such as KIT and the EGF receptor/EGFR. The SH2regions may interact with other cellular components to modulateits own phosphatase activity against interacting substrates.Together with MTUS1, induces UBE2V2 expression upon angiotensin IIstimulation. Plays a key role in hematopoiesis.{ECO:0000269|PubMed:11266449}.

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


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FusionGeneSequence for UACA_PTPN6


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 UACA_PTPN6


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
UACAMED14, NRD1, FBXO25, STAMBP, RABEP1, USP48, TP63, PAN2, HIF1AN, FUS, KRT40, RNF2, TIGD7, C17orf59, PICK1, IFI16, HIF1A, MYH9, PPP1CB, SORT1, SYNCRIP, ANLN, L1TD1, WIZ, BAG6, WWP2, CDH1, RGS3, VTN, JPH4, CORO6, PNMA5, GUCY1B3, SYNC, MIS18A, CCDC102BPTPN6BCR, ABL1, CD72, CSF2RB, CD22, PTK2B, SYK, GRB2, LYN, CXCR4, ROS1, LCP2, LCK, CBL, INSR, IL4R, TREML1, JAK2, LAIR1, PIK3R1, EPOR, NOS1, GAB2, PAG1, CAV1, EGFR, CD33, C6orf25, HOXA10, TYK2, JAK1, CD5, SSTR2, PILRA, VAV1, SOS1, KIT, PECAM1, SLAMF6, SIGLEC11, SIRPA, ZAP70, CTNND1, PRKCD, BLNK, FCRL3, IL6ST, LIFR, STAT5B, LILRB1, LILRB2, TXN, SMAD3, SAMD4B, PANK4, FHL3, NSUN7, AIMP1, DARS, PTPN2, PFKP, TRIP6, VARS, OLIG1, PTK2, LAT, PLCG1, PLCG2, ERBB4, ERBB2, FGFR2, FGFR4, IGF1R, KDR, DUSP18, PTPN12, PTPN11, PTPN6, NUDT16, NMNAT1, MACROD1, RPL7L1, RPS19BP1, RPL37A, BRIX1, SRP14, RPL36AL, GADD45GIP1, RPL30, EBNA1BP2, H1FX-AS1, DIMT1, RPF2, RRS1, RPS10P5, C8orf33, RPL35A, SRSF5, CLTCL1, PA2G4, RPL18A, RPL22L1, RPP30, LMTK2, AATK, ERBB3, ROR1, ROR2, PTK7, SIGLEC7, SIGLEC9, SRC, CDK1


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


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RelatedDrugs for UACA_PTPN6


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 UACA_PTPN6


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgenePTPN6C0006663Calcinosis1CTD_human
TgenePTPN6C0018824Heart valve disease1CTD_human
TgenePTPN6C0035228Respiratory Hypersensitivity1CTD_human
TgenePTPN6C0036341Schizophrenia1PSYGENET