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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: 7779

FusionGeneSummary for CNTNAP2_GSTK1

check button Fusion gene summary
Fusion gene informationFusion gene name: CNTNAP2_GSTK1
Fusion gene ID: 7779
HgeneTgene
Gene symbol

CNTNAP2

GSTK1

Gene ID

26047

373156

Gene namecontactin associated protein like 2glutathione S-transferase kappa 1
SynonymsAUTS15|CASPR2|CDFE|NRXN4|PTHSL1GST|GST 13-13|GST13|GST13-13|GSTK1-1|hGSTK1
Cytomap

7q35-q36.1

7q34

Type of geneprotein-codingprotein-coding
Descriptioncontactin-associated protein-like 2cell recognition molecule Caspr2homolog of Drosophila neurexin IVglutathione S-transferase kappa 1GST class-kappaglutathione S-transferase k1glutathione S-transferase subunit 13 homolog
Modification date2018051920180523
UniProtAcc

Q9UHC6

Q9Y2Q3

Ensembl transtripts involved in fusion geneENST00000361727, ENST00000538075, 
ENST00000463592, 
ENST00000409500, 
ENST00000443571, ENST00000358406, 
ENST00000479303, ENST00000494735, 
Fusion gene scores* DoF score2 X 2 X 2=82 X 2 X 2=8
# samples 22
** MAII scorelog2(2/8*10)=1.32192809488736log2(2/8*10)=1.32192809488736
Context

PubMed: CNTNAP2 [Title/Abstract] AND GSTK1 [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

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
TCGARVPRADTCGA-YJ-A8SW-01ACNTNAP2chr7

146536996

+GSTK1chr7

142960241

+
* 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-intronENST00000361727ENST00000409500CNTNAP2chr7

146536996

+GSTK1chr7

142960241

+
5CDS-intronENST00000361727ENST00000443571CNTNAP2chr7

146536996

+GSTK1chr7

142960241

+
5CDS-intronENST00000361727ENST00000358406CNTNAP2chr7

146536996

+GSTK1chr7

142960241

+
5CDS-intronENST00000361727ENST00000479303CNTNAP2chr7

146536996

+GSTK1chr7

142960241

+
5CDS-intronENST00000361727ENST00000494735CNTNAP2chr7

146536996

+GSTK1chr7

142960241

+
intron-intronENST00000538075ENST00000409500CNTNAP2chr7

146536996

+GSTK1chr7

142960241

+
intron-intronENST00000538075ENST00000443571CNTNAP2chr7

146536996

+GSTK1chr7

142960241

+
intron-intronENST00000538075ENST00000358406CNTNAP2chr7

146536996

+GSTK1chr7

142960241

+
intron-intronENST00000538075ENST00000479303CNTNAP2chr7

146536996

+GSTK1chr7

142960241

+
intron-intronENST00000538075ENST00000494735CNTNAP2chr7

146536996

+GSTK1chr7

142960241

+
intron-intronENST00000463592ENST00000409500CNTNAP2chr7

146536996

+GSTK1chr7

142960241

+
intron-intronENST00000463592ENST00000443571CNTNAP2chr7

146536996

+GSTK1chr7

142960241

+
intron-intronENST00000463592ENST00000358406CNTNAP2chr7

146536996

+GSTK1chr7

142960241

+
intron-intronENST00000463592ENST00000479303CNTNAP2chr7

146536996

+GSTK1chr7

142960241

+
intron-intronENST00000463592ENST00000494735CNTNAP2chr7

146536996

+GSTK1chr7

142960241

+

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FusionProtFeatures for CNTNAP2_GSTK1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CNTNAP2

Q9UHC6

GSTK1

Q9Y2Q3

Required, with CNTNAP1, for radial and longitudinalorganization of myelinated axons. Plays a role in the formation offunctional distinct domains critical for saltatory conduction ofnerve impulses in myelinated nerve fibers. Demarcates thejuxtaparanodal region of the axo-glial junction.{ECO:0000250|UniProtKB:Q9CPW0}. Significant glutathione conjugating activity is foundonly with the model substrate, 1-chloro-2,4-dinitrobenzene (CDNB).

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 CNTNAP2_GSTK1


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 CNTNAP2_GSTK1


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
CNTNAP2CNTN2, EPB41L3, CASK, CTR9, ZMIZ1, MACF1, IQCB1, MEOX2GSTK1LRPPRC, DNAAF5, XPO5, TSC22D1, IPO4, PDCD6IP, EPPK1, HNRNPM, SEC63, DCTN1, CYCS, RPN2, IARS, HRNR, RPN1, HTR1B, EFTUD2, DDOST, KIAA1279, CCAR2, ZW10, FANCI, MCM7, MATR3, ATXN10, SLC3A2, MINOS1, GRB2, PEX5, FN1, ITGA4, PIP4K2A, PRPF19, CCNDBP1, FAM9B, GSTK1, EGFR, L3HYPDH, CYP1A1, ALDH6A1, ME1, PPIF, TCTN3, COQ9, CISD3, TK2, PPP2R2D, LIMA1, PAG1, DCAF8, HSPD1, SOD1


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 CNTNAP2_GSTK1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneGSTK1Q9Y2Q3DB00143GlutathioneGlutathione S-transferase kappa 1small moleculeapproved|investigational|nutraceutical

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RelatedDiseases for CNTNAP2_GSTK1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCNTNAP2C0004352Autistic Disorder4CTD_human
HgeneCNTNAP2C1510586Autism Spectrum Disorders4CTD_human
HgeneCNTNAP2C0023014Language Development Disorders3CTD_human
HgeneCNTNAP2C0014544Epilepsy2CTD_human;HPO
HgeneCNTNAP2C0001973Alcoholic Intoxication, Chronic1PSYGENET
HgeneCNTNAP2C0005586Bipolar Disorder1PSYGENET
HgeneCNTNAP2C0036341Schizophrenia1CTD_human
HgeneCNTNAP2C0038506Stuttering1CTD_human
HgeneCNTNAP2C0041696Unipolar Depression1PSYGENET
HgeneCNTNAP2C0149925Small cell carcinoma of lung1CTD_human
HgeneCNTNAP2C0424295Hyperactive behavior1CTD_human;HPO
HgeneCNTNAP2C1269683Major Depressive Disorder1PSYGENET
HgeneCNTNAP2C1970431PITT-HOPKINS SYNDROME1CTD_human
TgeneGSTK1C0029408Degenerative polyarthritis1CTD_human
TgeneGSTK1C0033578Prostatic Neoplasms1CTD_human