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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: 15554

FusionGeneSummary for GSKIP_CLDN6

check button Fusion gene summary
Fusion gene informationFusion gene name: GSKIP_CLDN6
Fusion gene ID: 15554
HgeneTgene
Gene symbol

GSKIP

CLDN6

Gene ID

51527

9074

Gene nameGSK3B interacting proteinclaudin 6
SynonymsC14orf129|HSPC210-
Cytomap

14q32.2

16p13.3

Type of geneprotein-codingprotein-coding
DescriptionGSK3B-interacting proteinGSK3-beta interaction proteinclaudin-6skullin
Modification date2018052220180519
UniProtAcc

Q9P0R6

P56747

Ensembl transtripts involved in fusion geneENST00000555181, ENST00000554182, 
ENST00000556095, ENST00000438650, 
ENST00000396925, ENST00000328796, 
ENST00000572154, 
Fusion gene scores* DoF score1 X 1 X 1=12 X 3 X 3=18
# samples 13
** MAII scorelog2(1/1*10)=3.32192809488736log2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: GSKIP [Title/Abstract] AND CLDN6 [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
HgeneGSKIP

GO:0090263

positive regulation of canonical Wnt signaling pathway

27484798


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
TCGALDPRADTCGA-VP-A875-01AGSKIPchr14

96846125

+CLDN6chr16

3065182

-
* 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
5UTR-3UTRENST00000555181ENST00000396925GSKIPchr14

96846125

+CLDN6chr16

3065182

-
5UTR-3UTRENST00000555181ENST00000328796GSKIPchr14

96846125

+CLDN6chr16

3065182

-
5UTR-3UTRENST00000555181ENST00000572154GSKIPchr14

96846125

+CLDN6chr16

3065182

-
intron-3UTRENST00000554182ENST00000396925GSKIPchr14

96846125

+CLDN6chr16

3065182

-
intron-3UTRENST00000554182ENST00000328796GSKIPchr14

96846125

+CLDN6chr16

3065182

-
intron-3UTRENST00000554182ENST00000572154GSKIPchr14

96846125

+CLDN6chr16

3065182

-
5UTR-3UTRENST00000556095ENST00000396925GSKIPchr14

96846125

+CLDN6chr16

3065182

-
5UTR-3UTRENST00000556095ENST00000328796GSKIPchr14

96846125

+CLDN6chr16

3065182

-
5UTR-3UTRENST00000556095ENST00000572154GSKIPchr14

96846125

+CLDN6chr16

3065182

-
5UTR-3UTRENST00000438650ENST00000396925GSKIPchr14

96846125

+CLDN6chr16

3065182

-
5UTR-3UTRENST00000438650ENST00000328796GSKIPchr14

96846125

+CLDN6chr16

3065182

-
5UTR-3UTRENST00000438650ENST00000572154GSKIPchr14

96846125

+CLDN6chr16

3065182

-

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FusionProtFeatures for GSKIP_CLDN6


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

Q9P0R6

CLDN6

P56747

A-kinase anchoring protein for GSK3B and PKA thatregulates or facilitates their kinase activity towards theirtargets (PubMed:27484798, PubMed:25920809, PubMed:16981698). Theternary complex enhances Wnt-induced signaling by facilitating theGSK3B- and PKA-induced phosphorylation of beta-catenin leading tobeta-catenin degradation and stabilization respectively(PubMed:27484798, PubMed:16981698). Upon cAMP activation, theternary complex contributes to neuroprotection against oxidativestress-induced apoptosis by facilitating the PKA-inducedphosphorylation of DML1 and PKA-induced inactivation of GSK3B(PubMed:25920809). During neurite outgrowth promotes neuronproliferation; while increases beta-catenin-inducedtranscriptional activity through GSK3B kinase activity inhibition,reduces N-cadherin level to promote cell cycle progression(PubMed:19830702). {ECO:0000269|PubMed:16981698,ECO:0000269|PubMed:19830702, ECO:0000269|PubMed:25920809,ECO:0000269|PubMed:27484798}. Plays a major role in tight junction-specificobliteration of the intercellular space. {ECO:0000250}. (Microbial infection) Acts as a receptor for hepatitis Cvirus (HCV) entry into hepatic cells.{ECO:0000269|PubMed:17804490, ECO:0000269|PubMed:20375010}.

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 GSKIP_CLDN6


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 GSKIP_CLDN6


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
GSKIPGSK3B, GSK3A, BAG3, PEX19, EXT2, TRIM25CLDN6TJP1


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 GSKIP_CLDN6


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 GSKIP_CLDN6


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneGSKIPC0023470Myeloid Leukemia1CTD_human
HgeneGSKIPC0027022Myeloproliferative disease1CTD_human