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Fusion gene ID: 7779 |
FusionGeneSummary for CNTNAP2_GSTK1 |
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Fusion gene information | Fusion gene name: CNTNAP2_GSTK1 | Fusion gene ID: 7779 | Hgene | Tgene | Gene symbol | CNTNAP2 | GSTK1 | Gene ID | 26047 | 373156 |
Gene name | contactin associated protein like 2 | glutathione S-transferase kappa 1 | |
Synonyms | AUTS15|CASPR2|CDFE|NRXN4|PTHSL1 | GST|GST 13-13|GST13|GST13-13|GSTK1-1|hGSTK1 | |
Cytomap | 7q35-q36.1 | 7q34 | |
Type of gene | protein-coding | protein-coding | |
Description | contactin-associated protein-like 2cell recognition molecule Caspr2homolog of Drosophila neurexin IV | glutathione S-transferase kappa 1GST class-kappaglutathione S-transferase k1glutathione S-transferase subunit 13 homolog | |
Modification date | 20180519 | 20180523 | |
UniProtAcc | Q9UHC6 | Q9Y2Q3 | |
Ensembl transtripts involved in fusion gene | ENST00000361727, ENST00000538075, ENST00000463592, | ENST00000409500, ENST00000443571, ENST00000358406, ENST00000479303, ENST00000494735, | |
Fusion gene scores | * DoF score | 2 X 2 X 2=8 | 2 X 2 X 2=8 |
# samples | 2 | 2 | |
** MAII score | log2(2/8*10)=1.32192809488736 | log2(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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
![]() (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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
TCGA | RV | PRAD | TCGA-YJ-A8SW-01A | CNTNAP2 | chr7 | 146536996 | + | GSTK1 | chr7 | 142960241 | + |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
5CDS-intron | ENST00000361727 | ENST00000409500 | CNTNAP2 | chr7 | 146536996 | + | GSTK1 | chr7 | 142960241 | + |
5CDS-intron | ENST00000361727 | ENST00000443571 | CNTNAP2 | chr7 | 146536996 | + | GSTK1 | chr7 | 142960241 | + |
5CDS-intron | ENST00000361727 | ENST00000358406 | CNTNAP2 | chr7 | 146536996 | + | GSTK1 | chr7 | 142960241 | + |
5CDS-intron | ENST00000361727 | ENST00000479303 | CNTNAP2 | chr7 | 146536996 | + | GSTK1 | chr7 | 142960241 | + |
5CDS-intron | ENST00000361727 | ENST00000494735 | CNTNAP2 | chr7 | 146536996 | + | GSTK1 | chr7 | 142960241 | + |
intron-intron | ENST00000538075 | ENST00000409500 | CNTNAP2 | chr7 | 146536996 | + | GSTK1 | chr7 | 142960241 | + |
intron-intron | ENST00000538075 | ENST00000443571 | CNTNAP2 | chr7 | 146536996 | + | GSTK1 | chr7 | 142960241 | + |
intron-intron | ENST00000538075 | ENST00000358406 | CNTNAP2 | chr7 | 146536996 | + | GSTK1 | chr7 | 142960241 | + |
intron-intron | ENST00000538075 | ENST00000479303 | CNTNAP2 | chr7 | 146536996 | + | GSTK1 | chr7 | 142960241 | + |
intron-intron | ENST00000538075 | ENST00000494735 | CNTNAP2 | chr7 | 146536996 | + | GSTK1 | chr7 | 142960241 | + |
intron-intron | ENST00000463592 | ENST00000409500 | CNTNAP2 | chr7 | 146536996 | + | GSTK1 | chr7 | 142960241 | + |
intron-intron | ENST00000463592 | ENST00000443571 | CNTNAP2 | chr7 | 146536996 | + | GSTK1 | chr7 | 142960241 | + |
intron-intron | ENST00000463592 | ENST00000358406 | CNTNAP2 | chr7 | 146536996 | + | GSTK1 | chr7 | 142960241 | + |
intron-intron | ENST00000463592 | ENST00000479303 | CNTNAP2 | chr7 | 146536996 | + | GSTK1 | chr7 | 142960241 | + |
intron-intron | ENST00000463592 | ENST00000494735 | CNTNAP2 | chr7 | 146536996 | + | GSTK1 | chr7 | 142960241 | + |
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FusionProtFeatures for CNTNAP2_GSTK1 |
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Hgene | Tgene |
CNTNAP2 | GSTK1 |
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). |
![]() * 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. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for CNTNAP2_GSTK1 |
![]() (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 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
CNTNAP2 | CNTN2, EPB41L3, CASK, CTR9, ZMIZ1, MACF1, IQCB1, MEOX2 | GSTK1 | LRPPRC, 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 |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for CNTNAP2_GSTK1 |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Tgene | GSTK1 | Q9Y2Q3 | DB00143 | Glutathione | Glutathione S-transferase kappa 1 | small molecule | approved|investigational|nutraceutical |
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RelatedDiseases for CNTNAP2_GSTK1 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | CNTNAP2 | C0004352 | Autistic Disorder | 4 | CTD_human |
Hgene | CNTNAP2 | C1510586 | Autism Spectrum Disorders | 4 | CTD_human |
Hgene | CNTNAP2 | C0023014 | Language Development Disorders | 3 | CTD_human |
Hgene | CNTNAP2 | C0014544 | Epilepsy | 2 | CTD_human;HPO |
Hgene | CNTNAP2 | C0001973 | Alcoholic Intoxication, Chronic | 1 | PSYGENET |
Hgene | CNTNAP2 | C0005586 | Bipolar Disorder | 1 | PSYGENET |
Hgene | CNTNAP2 | C0036341 | Schizophrenia | 1 | CTD_human |
Hgene | CNTNAP2 | C0038506 | Stuttering | 1 | CTD_human |
Hgene | CNTNAP2 | C0041696 | Unipolar Depression | 1 | PSYGENET |
Hgene | CNTNAP2 | C0149925 | Small cell carcinoma of lung | 1 | CTD_human |
Hgene | CNTNAP2 | C0424295 | Hyperactive behavior | 1 | CTD_human;HPO |
Hgene | CNTNAP2 | C1269683 | Major Depressive Disorder | 1 | PSYGENET |
Hgene | CNTNAP2 | C1970431 | PITT-HOPKINS SYNDROME | 1 | CTD_human |
Tgene | GSTK1 | C0029408 | Degenerative polyarthritis | 1 | CTD_human |
Tgene | GSTK1 | C0033578 | Prostatic Neoplasms | 1 | CTD_human |