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Fusion gene ID: 8263 |
FusionGeneSummary for CPNE1_GNAS |
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Fusion gene information | Fusion gene name: CPNE1_GNAS | Fusion gene ID: 8263 | Hgene | Tgene | Gene symbol | CPNE1 | GNAS | Gene ID | 8904 | 2778 |
Gene name | copine 1 | GNAS complex locus | |
Synonyms | COPN1|CPN1 | AHO|C20orf45|GNAS1|GPSA|GSA|GSP|NESP|PITA3|POH|SCG6|SgVI | |
Cytomap | 20q11.22 | 20q13.32 | |
Type of gene | protein-coding | protein-coding | |
Description | copine-1chromobindin 17copine I | protein ALEXprotein GNASprotein SCG6 (secretogranin VI)G protein subunit alpha Sadenylate cyclase-stimulating G alpha proteinalternative gene product encoded by XL-exonextra large alphas proteinguanine nucleotide binding protein (G protein), alpha | |
Modification date | 20180523 | 20180523 | |
UniProtAcc | Q99829 | Q5JWF2 | |
Ensembl transtripts involved in fusion gene | ENST00000352393, ENST00000317677, ENST00000397445, ENST00000317619, ENST00000397443, ENST00000397446, ENST00000397442, ENST00000475146, | ENST00000313949, ENST00000371098, ENST00000371075, ENST00000371100, ENST00000371099, ENST00000371102, ENST00000464624, ENST00000306120, ENST00000371095, ENST00000371085, ENST00000354359, ENST00000265620, ENST00000306090, ENST00000371081, | |
Fusion gene scores | * DoF score | 9 X 7 X 6=378 | 33 X 25 X 8=6600 |
# samples | 9 | 35 | |
** MAII score | log2(9/378*10)=-2.0703893278914 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(35/6600*10)=-4.23703919730085 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: CPNE1 [Title/Abstract] AND GNAS [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 |
Hgene | CPNE1 | GO:0043392 | negative regulation of DNA binding | 18212740 |
Hgene | CPNE1 | GO:0045666 | positive regulation of neuron differentiation | 23263657 |
Hgene | CPNE1 | GO:0051897 | positive regulation of protein kinase B signaling | 23263657 |
Hgene | CPNE1 | GO:1990138 | neuron projection extension | 23263657 |
![]() (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 | LD | LUAD | TCGA-55-8206-01A | CPNE1 | chr20 | 34252682 | - | GNAS | chr20 | 57478586 | + |
* 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 |
5UTR-3UTR | ENST00000352393 | ENST00000313949 | CPNE1 | chr20 | 34252682 | - | GNAS | chr20 | 57478586 | + |
5UTR-intron | ENST00000352393 | ENST00000371098 | CPNE1 | chr20 | 34252682 | - | GNAS | chr20 | 57478586 | + |
5UTR-3UTR | ENST00000352393 | ENST00000371075 | CPNE1 | chr20 | 34252682 | - | GNAS | chr20 | 57478586 | + |
5UTR-3UTR | ENST00000352393 | ENST00000371100 | CPNE1 | chr20 | 34252682 | - | GNAS | chr20 | 57478586 | + |
5UTR-intron | ENST00000352393 | ENST00000371099 | CPNE1 | chr20 | 34252682 | - | GNAS | chr20 | 57478586 | + |
5UTR-intron | ENST00000352393 | ENST00000371102 | CPNE1 | chr20 | 34252682 | - | GNAS | chr20 | 57478586 | + |
5UTR-3UTR | ENST00000352393 | ENST00000464624 | CPNE1 | chr20 | 34252682 | - | GNAS | chr20 | 57478586 | + |
5UTR-intron | ENST00000352393 | ENST00000306120 | CPNE1 | chr20 | 34252682 | - | GNAS | chr20 | 57478586 | + |
5UTR-intron | ENST00000352393 | ENST00000371095 | CPNE1 | chr20 | 34252682 | - | GNAS | chr20 | 57478586 | + |
5UTR-intron | ENST00000352393 | ENST00000371085 | CPNE1 | chr20 | 34252682 | - | GNAS | chr20 | 57478586 | + |
5UTR-intron | ENST00000352393 | ENST00000354359 | CPNE1 | chr20 | 34252682 | - | GNAS | chr20 | 57478586 | + |
5UTR-intron | ENST00000352393 | ENST00000265620 | CPNE1 | chr20 | 34252682 | - | GNAS | chr20 | 57478586 | + |
5UTR-intron | ENST00000352393 | ENST00000306090 | CPNE1 | chr20 | 34252682 | - | GNAS | chr20 | 57478586 | + |
5UTR-intron | ENST00000352393 | ENST00000371081 | CPNE1 | chr20 | 34252682 | - | GNAS | chr20 | 57478586 | + |
intron-3UTR | ENST00000317677 | ENST00000313949 | CPNE1 | chr20 | 34252682 | - | GNAS | chr20 | 57478586 | + |
intron-intron | ENST00000317677 | ENST00000371098 | CPNE1 | chr20 | 34252682 | - | GNAS | chr20 | 57478586 | + |
intron-3UTR | ENST00000317677 | ENST00000371075 | CPNE1 | chr20 | 34252682 | - | GNAS | chr20 | 57478586 | + |
intron-3UTR | ENST00000317677 | ENST00000371100 | CPNE1 | chr20 | 34252682 | - | GNAS | chr20 | 57478586 | + |
intron-intron | ENST00000317677 | ENST00000371099 | CPNE1 | chr20 | 34252682 | - | GNAS | chr20 | 57478586 | + |
intron-intron | ENST00000317677 | ENST00000371102 | CPNE1 | chr20 | 34252682 | - | GNAS | chr20 | 57478586 | + |
intron-3UTR | ENST00000317677 | ENST00000464624 | CPNE1 | chr20 | 34252682 | - | GNAS | chr20 | 57478586 | + |
intron-intron | ENST00000317677 | ENST00000306120 | CPNE1 | chr20 | 34252682 | - | GNAS | chr20 | 57478586 | + |
intron-intron | ENST00000317677 | ENST00000371095 | CPNE1 | chr20 | 34252682 | - | GNAS | chr20 | 57478586 | + |
intron-intron | ENST00000317677 | ENST00000371085 | CPNE1 | chr20 | 34252682 | - | GNAS | chr20 | 57478586 | + |
intron-intron | ENST00000317677 | ENST00000354359 | CPNE1 | chr20 | 34252682 | - | GNAS | chr20 | 57478586 | + |
intron-intron | ENST00000317677 | ENST00000265620 | CPNE1 | chr20 | 34252682 | - | GNAS | chr20 | 57478586 | + |
intron-intron | ENST00000317677 | ENST00000306090 | CPNE1 | chr20 | 34252682 | - | GNAS | chr20 | 57478586 | + |
intron-intron | ENST00000317677 | ENST00000371081 | CPNE1 | chr20 | 34252682 | - | GNAS | chr20 | 57478586 | + |
5UTR-3UTR | ENST00000397445 | ENST00000313949 | CPNE1 | chr20 | 34252682 | - | GNAS | chr20 | 57478586 | + |
5UTR-intron | ENST00000397445 | ENST00000371098 | CPNE1 | chr20 | 34252682 | - | GNAS | chr20 | 57478586 | + |
5UTR-3UTR | ENST00000397445 | ENST00000371075 | CPNE1 | chr20 | 34252682 | - | GNAS | chr20 | 57478586 | + |
5UTR-3UTR | ENST00000397445 | ENST00000371100 | CPNE1 | chr20 | 34252682 | - | GNAS | chr20 | 57478586 | + |
5UTR-intron | ENST00000397445 | ENST00000371099 | CPNE1 | chr20 | 34252682 | - | GNAS | chr20 | 57478586 | + |
5UTR-intron | ENST00000397445 | ENST00000371102 | CPNE1 | chr20 | 34252682 | - | GNAS | chr20 | 57478586 | + |
5UTR-3UTR | ENST00000397445 | ENST00000464624 | CPNE1 | chr20 | 34252682 | - | GNAS | chr20 | 57478586 | + |
5UTR-intron | ENST00000397445 | ENST00000306120 | CPNE1 | chr20 | 34252682 | - | GNAS | chr20 | 57478586 | + |
5UTR-intron | ENST00000397445 | ENST00000371095 | CPNE1 | chr20 | 34252682 | - | GNAS | chr20 | 57478586 | + |
5UTR-intron | ENST00000397445 | ENST00000371085 | CPNE1 | chr20 | 34252682 | - | GNAS | chr20 | 57478586 | + |
5UTR-intron | ENST00000397445 | ENST00000354359 | CPNE1 | chr20 | 34252682 | - | GNAS | chr20 | 57478586 | + |
5UTR-intron | ENST00000397445 | ENST00000265620 | CPNE1 | chr20 | 34252682 | - | GNAS | chr20 | 57478586 | + |
5UTR-intron | ENST00000397445 | ENST00000306090 | CPNE1 | chr20 | 34252682 | - | GNAS | chr20 | 57478586 | + |
5UTR-intron | ENST00000397445 | ENST00000371081 | CPNE1 | chr20 | 34252682 | - | GNAS | chr20 | 57478586 | + |
5UTR-3UTR | ENST00000317619 | ENST00000313949 | CPNE1 | chr20 | 34252682 | - | GNAS | chr20 | 57478586 | + |
5UTR-intron | ENST00000317619 | ENST00000371098 | CPNE1 | chr20 | 34252682 | - | GNAS | chr20 | 57478586 | + |
5UTR-3UTR | ENST00000317619 | ENST00000371075 | CPNE1 | chr20 | 34252682 | - | GNAS | chr20 | 57478586 | + |
5UTR-3UTR | ENST00000317619 | ENST00000371100 | CPNE1 | chr20 | 34252682 | - | GNAS | chr20 | 57478586 | + |
5UTR-intron | ENST00000317619 | ENST00000371099 | CPNE1 | chr20 | 34252682 | - | GNAS | chr20 | 57478586 | + |
5UTR-intron | ENST00000317619 | ENST00000371102 | CPNE1 | chr20 | 34252682 | - | GNAS | chr20 | 57478586 | + |
5UTR-3UTR | ENST00000317619 | ENST00000464624 | CPNE1 | chr20 | 34252682 | - | GNAS | chr20 | 57478586 | + |
5UTR-intron | ENST00000317619 | ENST00000306120 | CPNE1 | chr20 | 34252682 | - | GNAS | chr20 | 57478586 | + |
5UTR-intron | ENST00000317619 | ENST00000371095 | CPNE1 | chr20 | 34252682 | - | GNAS | chr20 | 57478586 | + |
5UTR-intron | ENST00000317619 | ENST00000371085 | CPNE1 | chr20 | 34252682 | - | GNAS | chr20 | 57478586 | + |
5UTR-intron | ENST00000317619 | ENST00000354359 | CPNE1 | chr20 | 34252682 | - | GNAS | chr20 | 57478586 | + |
5UTR-intron | ENST00000317619 | ENST00000265620 | CPNE1 | chr20 | 34252682 | - | GNAS | chr20 | 57478586 | + |
5UTR-intron | ENST00000317619 | ENST00000306090 | CPNE1 | chr20 | 34252682 | - | GNAS | chr20 | 57478586 | + |
5UTR-intron | ENST00000317619 | ENST00000371081 | CPNE1 | chr20 | 34252682 | - | GNAS | chr20 | 57478586 | + |
5UTR-3UTR | ENST00000397443 | ENST00000313949 | CPNE1 | chr20 | 34252682 | - | GNAS | chr20 | 57478586 | + |
5UTR-intron | ENST00000397443 | ENST00000371098 | CPNE1 | chr20 | 34252682 | - | GNAS | chr20 | 57478586 | + |
5UTR-3UTR | ENST00000397443 | ENST00000371075 | CPNE1 | chr20 | 34252682 | - | GNAS | chr20 | 57478586 | + |
5UTR-3UTR | ENST00000397443 | ENST00000371100 | CPNE1 | chr20 | 34252682 | - | GNAS | chr20 | 57478586 | + |
5UTR-intron | ENST00000397443 | ENST00000371099 | CPNE1 | chr20 | 34252682 | - | GNAS | chr20 | 57478586 | + |
5UTR-intron | ENST00000397443 | ENST00000371102 | CPNE1 | chr20 | 34252682 | - | GNAS | chr20 | 57478586 | + |
5UTR-3UTR | ENST00000397443 | ENST00000464624 | CPNE1 | chr20 | 34252682 | - | GNAS | chr20 | 57478586 | + |
5UTR-intron | ENST00000397443 | ENST00000306120 | CPNE1 | chr20 | 34252682 | - | GNAS | chr20 | 57478586 | + |
5UTR-intron | ENST00000397443 | ENST00000371095 | CPNE1 | chr20 | 34252682 | - | GNAS | chr20 | 57478586 | + |
5UTR-intron | ENST00000397443 | ENST00000371085 | CPNE1 | chr20 | 34252682 | - | GNAS | chr20 | 57478586 | + |
5UTR-intron | ENST00000397443 | ENST00000354359 | CPNE1 | chr20 | 34252682 | - | GNAS | chr20 | 57478586 | + |
5UTR-intron | ENST00000397443 | ENST00000265620 | CPNE1 | chr20 | 34252682 | - | GNAS | chr20 | 57478586 | + |
5UTR-intron | ENST00000397443 | ENST00000306090 | CPNE1 | chr20 | 34252682 | - | GNAS | chr20 | 57478586 | + |
5UTR-intron | ENST00000397443 | ENST00000371081 | CPNE1 | chr20 | 34252682 | - | GNAS | chr20 | 57478586 | + |
intron-3UTR | ENST00000397446 | ENST00000313949 | CPNE1 | chr20 | 34252682 | - | GNAS | chr20 | 57478586 | + |
intron-intron | ENST00000397446 | ENST00000371098 | CPNE1 | chr20 | 34252682 | - | GNAS | chr20 | 57478586 | + |
intron-3UTR | ENST00000397446 | ENST00000371075 | CPNE1 | chr20 | 34252682 | - | GNAS | chr20 | 57478586 | + |
intron-3UTR | ENST00000397446 | ENST00000371100 | CPNE1 | chr20 | 34252682 | - | GNAS | chr20 | 57478586 | + |
intron-intron | ENST00000397446 | ENST00000371099 | CPNE1 | chr20 | 34252682 | - | GNAS | chr20 | 57478586 | + |
intron-intron | ENST00000397446 | ENST00000371102 | CPNE1 | chr20 | 34252682 | - | GNAS | chr20 | 57478586 | + |
intron-3UTR | ENST00000397446 | ENST00000464624 | CPNE1 | chr20 | 34252682 | - | GNAS | chr20 | 57478586 | + |
intron-intron | ENST00000397446 | ENST00000306120 | CPNE1 | chr20 | 34252682 | - | GNAS | chr20 | 57478586 | + |
intron-intron | ENST00000397446 | ENST00000371095 | CPNE1 | chr20 | 34252682 | - | GNAS | chr20 | 57478586 | + |
intron-intron | ENST00000397446 | ENST00000371085 | CPNE1 | chr20 | 34252682 | - | GNAS | chr20 | 57478586 | + |
intron-intron | ENST00000397446 | ENST00000354359 | CPNE1 | chr20 | 34252682 | - | GNAS | chr20 | 57478586 | + |
intron-intron | ENST00000397446 | ENST00000265620 | CPNE1 | chr20 | 34252682 | - | GNAS | chr20 | 57478586 | + |
intron-intron | ENST00000397446 | ENST00000306090 | CPNE1 | chr20 | 34252682 | - | GNAS | chr20 | 57478586 | + |
intron-intron | ENST00000397446 | ENST00000371081 | CPNE1 | chr20 | 34252682 | - | GNAS | chr20 | 57478586 | + |
intron-3UTR | ENST00000397442 | ENST00000313949 | CPNE1 | chr20 | 34252682 | - | GNAS | chr20 | 57478586 | + |
intron-intron | ENST00000397442 | ENST00000371098 | CPNE1 | chr20 | 34252682 | - | GNAS | chr20 | 57478586 | + |
intron-3UTR | ENST00000397442 | ENST00000371075 | CPNE1 | chr20 | 34252682 | - | GNAS | chr20 | 57478586 | + |
intron-3UTR | ENST00000397442 | ENST00000371100 | CPNE1 | chr20 | 34252682 | - | GNAS | chr20 | 57478586 | + |
intron-intron | ENST00000397442 | ENST00000371099 | CPNE1 | chr20 | 34252682 | - | GNAS | chr20 | 57478586 | + |
intron-intron | ENST00000397442 | ENST00000371102 | CPNE1 | chr20 | 34252682 | - | GNAS | chr20 | 57478586 | + |
intron-3UTR | ENST00000397442 | ENST00000464624 | CPNE1 | chr20 | 34252682 | - | GNAS | chr20 | 57478586 | + |
intron-intron | ENST00000397442 | ENST00000306120 | CPNE1 | chr20 | 34252682 | - | GNAS | chr20 | 57478586 | + |
intron-intron | ENST00000397442 | ENST00000371095 | CPNE1 | chr20 | 34252682 | - | GNAS | chr20 | 57478586 | + |
intron-intron | ENST00000397442 | ENST00000371085 | CPNE1 | chr20 | 34252682 | - | GNAS | chr20 | 57478586 | + |
intron-intron | ENST00000397442 | ENST00000354359 | CPNE1 | chr20 | 34252682 | - | GNAS | chr20 | 57478586 | + |
intron-intron | ENST00000397442 | ENST00000265620 | CPNE1 | chr20 | 34252682 | - | GNAS | chr20 | 57478586 | + |
intron-intron | ENST00000397442 | ENST00000306090 | CPNE1 | chr20 | 34252682 | - | GNAS | chr20 | 57478586 | + |
intron-intron | ENST00000397442 | ENST00000371081 | CPNE1 | chr20 | 34252682 | - | GNAS | chr20 | 57478586 | + |
intron-3UTR | ENST00000475146 | ENST00000313949 | CPNE1 | chr20 | 34252682 | - | GNAS | chr20 | 57478586 | + |
intron-intron | ENST00000475146 | ENST00000371098 | CPNE1 | chr20 | 34252682 | - | GNAS | chr20 | 57478586 | + |
intron-3UTR | ENST00000475146 | ENST00000371075 | CPNE1 | chr20 | 34252682 | - | GNAS | chr20 | 57478586 | + |
intron-3UTR | ENST00000475146 | ENST00000371100 | CPNE1 | chr20 | 34252682 | - | GNAS | chr20 | 57478586 | + |
intron-intron | ENST00000475146 | ENST00000371099 | CPNE1 | chr20 | 34252682 | - | GNAS | chr20 | 57478586 | + |
intron-intron | ENST00000475146 | ENST00000371102 | CPNE1 | chr20 | 34252682 | - | GNAS | chr20 | 57478586 | + |
intron-3UTR | ENST00000475146 | ENST00000464624 | CPNE1 | chr20 | 34252682 | - | GNAS | chr20 | 57478586 | + |
intron-intron | ENST00000475146 | ENST00000306120 | CPNE1 | chr20 | 34252682 | - | GNAS | chr20 | 57478586 | + |
intron-intron | ENST00000475146 | ENST00000371095 | CPNE1 | chr20 | 34252682 | - | GNAS | chr20 | 57478586 | + |
intron-intron | ENST00000475146 | ENST00000371085 | CPNE1 | chr20 | 34252682 | - | GNAS | chr20 | 57478586 | + |
intron-intron | ENST00000475146 | ENST00000354359 | CPNE1 | chr20 | 34252682 | - | GNAS | chr20 | 57478586 | + |
intron-intron | ENST00000475146 | ENST00000265620 | CPNE1 | chr20 | 34252682 | - | GNAS | chr20 | 57478586 | + |
intron-intron | ENST00000475146 | ENST00000306090 | CPNE1 | chr20 | 34252682 | - | GNAS | chr20 | 57478586 | + |
intron-intron | ENST00000475146 | ENST00000371081 | CPNE1 | chr20 | 34252682 | - | GNAS | chr20 | 57478586 | + |
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FusionProtFeatures for CPNE1_GNAS |
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Hgene | Tgene |
CPNE1 | GNAS |
Calcium-dependent phospholipid-binding protein thatplays a role in calcium-mediated intracellular processes(PubMed:14674885). Involved in the TNF-alpha receptor signalingpathway in a calcium-dependent manner (PubMed:14674885). Exhibitscalcium-dependent phospholipid binding properties (PubMed:9430674,PubMed:19539605). Plays a role in neuronal progenitor celldifferentiation; induces neurite outgrowth via a AKT-dependentsignaling cascade and calcium-independent manner (PubMed:23263657,PubMed:25450385). May recruit target proteins to the cell membranein a calcium-dependent manner (PubMed:12522145). May function inmembrane trafficking (PubMed:9430674). Involved in TNF-alpha-induced NF-kappa-B transcriptional repression by inducingendoprotease processing of the transcription factor NF-kappa-Bp65/RELA subunit (PubMed:18212740). Also induces endoproteaseprocessing of NF-kappa-B p50/NFKB1, p52/NFKB2, RELB and REL(PubMed:18212740). {ECO:0000269|PubMed:12522145,ECO:0000269|PubMed:14674885, ECO:0000269|PubMed:18212740,ECO:0000269|PubMed:19539605, ECO:0000269|PubMed:23263657,ECO:0000269|PubMed:25450385, ECO:0000269|PubMed:9430674}. | Guanine nucleotide-binding proteins (G proteins)function as transducers in numerous signaling pathways controlledby G protein-coupled receptors (GPCRs). Signaling involves theactivation of adenylyl cyclases, resulting in increased levels ofthe signaling molecule cAMP. GNAS functions downstream of severalGPCRs, including beta-adrenergic receptors. XLas isoforms interactwith the same set of receptors as GNAS isoforms (By similarity).{ECO:0000250|UniProtKB:Q6R0H7}. |
![]() * 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 CPNE1_GNAS |
![]() (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 CPNE1_GNAS |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
CPNE1 | UIMC1, HNRNPH1, ARRB2, TIMM13, ST13, TTLL12, PYGB, LIG4, FN1, BAG3, STK3, BUB3, KLK5, CDA, SDHA, NTRK1, TRIM25 | GNAS | FSCN1, PAICS, RUVBL1, SHMT2, TTC1, ADCY6, CRHR1, RGS2, SNX13, VIPR1, GNAS, MDM2, CALM1, GNG2, PCK1, ADRB2, AVPR2, TBXA2R, GNB1, GNAQ, GNA11, SLC25A12, LAMTOR1, NUCB1, NUCB2, HLA-A, OPTN, PTGIR, FUS, AXIN1, PANX1, CCDC8, EGFR, JAK3, GNAL, GNG4, TRO, MAGED2, GNB2, GNB4, C1QBP, METAP2, CPT2, YBEY, GNG10, OCIAD1, GNA12, ARMCX3, GNG5, EIF4H, EML2, GIPC1, DIS3, PFAS, NTRK1, RIC8B, CHEK2, HERC2, XPO1, CAT, DBN1, FLNA, MYH9, DNAJC7, SYNPO, THOC2, ELMSAN1, ADCY2, CDC5L, CD47, GLP1R, NAP1L1, MTNR1B, TRIM25 |
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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 CPNE1_GNAS |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Hgene | CPNE1 | Q99829 | DB00277 | Theophylline | Copine-1 {ECO:0000305} | small molecule | approved |
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RelatedDiseases for CPNE1_GNAS |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | GNAS | C3494506 | Pseudohypoparathyroidism, Type Ia | 13 | CTD_human;ORPHANET;UNIPROT |
Tgene | GNAS | C0242292 | McCune-Albright Syndrome | 5 | ORPHANET;UNIPROT |
Tgene | GNAS | C2931404 | Albright's hereditary osteodystrophy | 4 | CTD_human |
Tgene | GNAS | C0016065 | Polyostotic fibrous dysplasia | 3 | CTD_human;HPO;ORPHANET |
Tgene | GNAS | C0033806 | Pseudohypoparathyroidism | 3 | CTD_human;HPO |
Tgene | GNAS | C1857451 | Acth-Independent Macronodular Adrenal Hyperplasia | 3 | ORPHANET;UNIPROT |
Tgene | GNAS | C0014130 | Endocrine System Diseases | 2 | CTD_human |
Tgene | GNAS | C0034013 | Precocious Puberty | 2 | CTD_human;HPO |
Tgene | GNAS | C0221263 | Cafe-au-Lait Spots | 2 | CTD_human |
Tgene | GNAS | C0001206 | Acromegaly | 1 | CTD_human;HPO |
Tgene | GNAS | C0001624 | Adrenal Gland Neoplasms | 1 | CTD_human |
Tgene | GNAS | C0011573 | Endogenous depression | 1 | PSYGENET |
Tgene | GNAS | C0019087 | Hemorrhagic Disorders | 1 | CTD_human |
Tgene | GNAS | C0020538 | Hypertensive disease | 1 | CTD_human;HPO |
Tgene | GNAS | C0021655 | Insulin Resistance | 1 | CTD_human |
Tgene | GNAS | C0023897 | Liver Diseases, Parasitic | 1 | CTD_human |
Tgene | GNAS | C0027819 | Neuroblastoma | 1 | CTD_human |
Tgene | GNAS | C0028754 | Obesity | 1 | CTD_human;HPO |
Tgene | GNAS | C0029396 | Heterotopic Ossification | 1 | CTD_human;HPO |
Tgene | GNAS | C0032460 | Polycystic Ovary Syndrome | 1 | CTD_human |
Tgene | GNAS | C0033835 | Pseudopseudohypoparathyroidism | 1 | CTD_human;ORPHANET |
Tgene | GNAS | C0035204 | Respiration Disorders | 1 | CTD_human |
Tgene | GNAS | C0036341 | Schizophrenia | 1 | PSYGENET |
Tgene | GNAS | C0038587 | Substance Withdrawal Syndrome | 1 | CTD_human |
Tgene | GNAS | C0039231 | Tachycardia | 1 | CTD_human |
Tgene | GNAS | C0206698 | Cholangiocarcinoma | 1 | CTD_human |
Tgene | GNAS | C0221357 | Brachydactyly | 1 | CTD_human;HPO |
Tgene | GNAS | C0242184 | Hypoxia | 1 | CTD_human |
Tgene | GNAS | C0242216 | Biliary calculi | 1 | CTD_human |
Tgene | GNAS | C0334041 | Osteoma cutis | 1 | CTD_human;ORPHANET;UNIPROT |
Tgene | GNAS | C0346302 | Growth Hormone-Secreting Pituitary Adenoma | 1 | CTD_human |
Tgene | GNAS | C2932715 | Pseudohypoparathyroidism Type 1B | 1 | CTD_human;ORPHANET |
Tgene | GNAS | C2932716 | Pseudohypoparathyroidism Type 1C | 1 | ORPHANET;UNIPROT |
Tgene | GNAS | C3714756 | Intellectual Disability | 1 | CTD_human;HPO |