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![]() | Fusion Gene Summary |
![]() | Fusion Gene ORF analysis |
![]() | Fusion Genomic Features |
![]() | Fusion Protein Features |
![]() | Fusion Gene Sequence |
![]() | Fusion Gene PPI analysis |
![]() | Related Drugs |
![]() | Related Diseases |
Fusion gene:MTAP-CDKN2A (FusionGDB2 ID:HG4507TG1029) |
Fusion Gene Summary for MTAP-CDKN2A |
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Fusion gene information | Fusion gene name: MTAP-CDKN2A | Fusion gene ID: hg4507tg1029 | Hgene | Tgene | Gene symbol | MTAP | CDKN2A | Gene ID | 4507 | 1029 |
Gene name | methylthioadenosine phosphorylase | cyclin dependent kinase inhibitor 2A | |
Synonyms | BDMF|DMSFH|DMSMFH|HEL-249|LGMBF|MSAP|c86fus | ARF|CDK4I|CDKN2|CMM2|INK4|INK4A|MLM|MTS-1|MTS1|P14|P14ARF|P16|P16-INK4A|P16INK4|P16INK4A|P19|P19ARF|TP16 | |
Cytomap | ('MTAP')('CDKN2A') 9p21.3 | 9p21.3 | |
Type of gene | protein-coding | protein-coding | |
Description | S-methyl-5'-thioadenosine phosphorylase5'-methylthioadenosine phosphorylaseMTA phosphorylaseMTAPaseMeSAdo phosphorylaseepididymis luminal protein 249epididymis secretory sperm binding protein | cyclin-dependent kinase inhibitor 2ACDK4 inhibitor p16-INK4alternative reading framecell cycle negative regulator betacyclin-dependent kinase 4 inhibitor Acyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)multiple tumor suppressor 1 | |
Modification date | 20200313 | 20200329 | |
UniProtAcc | . | . | |
Ensembl transtripts involved in fusion gene | ENST00000427788, ENST00000380172, ENST00000460874, ENST00000580900, | ENST00000427788, ENST00000380172, ENST00000460874, ENST00000580900, | |
Fusion gene scores | * DoF score | 13 X 9 X 9=1053 | 13 X 5 X 10=650 |
# samples | 17 | 16 | |
** MAII score | log2(17/1053*10)=-2.63089878488802 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(16/650*10)=-2.02236781302845 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: MTAP [Title/Abstract] AND CDKN2A [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | MTAP(21818201)-CDKN2A(21971207), # samples:2 MTAP(21815518)-CDKN2A(21968241), # samples:2 | ||
Anticipated loss of major functional domain due to fusion event. | CDKN2A-MTAP seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. CDKN2A-MTAP seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. MTAP-CDKN2A seems lost the major protein functional domain in Hgene partner, which is a cell metabolism gene due to the frame-shifted ORF. MTAP-CDKN2A seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF. MTAP-CDKN2A seems lost the major protein functional domain in Hgene partner, which is a tumor suppressor due to the frame-shifted ORF. MTAP-CDKN2A seems lost the major protein functional domain in Tgene partner, which is a CGC due to the frame-shifted ORF. MTAP-CDKN2A seems lost the major protein functional domain in Tgene partner, which is a tumor suppressor due to the frame-shifted ORF. |
* 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 | MTAP | GO:0006738 | nicotinamide riboside catabolic process | 19001417 |
Tgene | CDKN2A | GO:0000082 | G1/S transition of mitotic cell cycle | 10208428 |
Tgene | CDKN2A | GO:0007050 | cell cycle arrest | 15149599 |
Tgene | CDKN2A | GO:0008285 | negative regulation of cell proliferation | 15149599 |
Tgene | CDKN2A | GO:0030308 | negative regulation of cell growth | 10208428 |
Tgene | CDKN2A | GO:0032088 | negative regulation of NF-kappaB transcription factor activity | 10353611 |
Tgene | CDKN2A | GO:0042326 | negative regulation of phosphorylation | 8259215|10208428 |
Tgene | CDKN2A | GO:0045736 | negative regulation of cyclin-dependent protein serine/threonine kinase activity | 7739547|8259215 |
![]() * 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. |
Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
ChimerDB4 | BRCA | TCGA-A2-A04Q-01A | MTAP | chr9 | 21818201 | - | CDKN2A | chr9 | 21971207 | - |
ChimerDB4 | BRCA | TCGA-A2-A04Q-01A | MTAP | chr9 | 21818201 | + | CDKN2A | chr9 | 21971207 | - |
ChimerDB4 | MESO | TCGA-3H-AB3M-01A | MTAP | chr9 | 21815518 | - | CDKN2A | chr9 | 21968241 | - |
ChimerDB4 | MESO | TCGA-3H-AB3M | MTAP | chr9 | 21815518 | + | CDKN2A | chr9 | 21968241 | - |
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Fusion Gene ORF analysis for MTAP-CDKN2A |
![]() * 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 |
3UTR-3CDS | ENST00000427788 | ENST00000304494 | MTAP | chr9 | 21818201 | + | CDKN2A | chr9 | 21971207 | - |
3UTR-3CDS | ENST00000427788 | ENST00000361570 | MTAP | chr9 | 21818201 | + | CDKN2A | chr9 | 21971207 | - |
3UTR-3CDS | ENST00000427788 | ENST00000579122 | MTAP | chr9 | 21818201 | + | CDKN2A | chr9 | 21971207 | - |
3UTR-3CDS | ENST00000427788 | ENST00000579755 | MTAP | chr9 | 21818201 | + | CDKN2A | chr9 | 21971207 | - |
3UTR-3UTR | ENST00000427788 | ENST00000304494 | MTAP | chr9 | 21815518 | + | CDKN2A | chr9 | 21968241 | - |
3UTR-3UTR | ENST00000427788 | ENST00000361570 | MTAP | chr9 | 21815518 | + | CDKN2A | chr9 | 21968241 | - |
3UTR-3UTR | ENST00000427788 | ENST00000494262 | MTAP | chr9 | 21815518 | + | CDKN2A | chr9 | 21968241 | - |
3UTR-3UTR | ENST00000427788 | ENST00000498124 | MTAP | chr9 | 21815518 | + | CDKN2A | chr9 | 21968241 | - |
3UTR-3UTR | ENST00000427788 | ENST00000498628 | MTAP | chr9 | 21815518 | + | CDKN2A | chr9 | 21968241 | - |
3UTR-3UTR | ENST00000427788 | ENST00000530628 | MTAP | chr9 | 21815518 | + | CDKN2A | chr9 | 21968241 | - |
3UTR-3UTR | ENST00000427788 | ENST00000578845 | MTAP | chr9 | 21815518 | + | CDKN2A | chr9 | 21968241 | - |
3UTR-3UTR | ENST00000427788 | ENST00000579122 | MTAP | chr9 | 21815518 | + | CDKN2A | chr9 | 21968241 | - |
3UTR-3UTR | ENST00000427788 | ENST00000579755 | MTAP | chr9 | 21815518 | + | CDKN2A | chr9 | 21968241 | - |
3UTR-5UTR | ENST00000427788 | ENST00000446177 | MTAP | chr9 | 21818201 | + | CDKN2A | chr9 | 21971207 | - |
3UTR-5UTR | ENST00000427788 | ENST00000479692 | MTAP | chr9 | 21818201 | + | CDKN2A | chr9 | 21971207 | - |
3UTR-5UTR | ENST00000427788 | ENST00000494262 | MTAP | chr9 | 21818201 | + | CDKN2A | chr9 | 21971207 | - |
3UTR-5UTR | ENST00000427788 | ENST00000497750 | MTAP | chr9 | 21818201 | + | CDKN2A | chr9 | 21971207 | - |
3UTR-5UTR | ENST00000427788 | ENST00000498124 | MTAP | chr9 | 21818201 | + | CDKN2A | chr9 | 21971207 | - |
3UTR-5UTR | ENST00000427788 | ENST00000498628 | MTAP | chr9 | 21818201 | + | CDKN2A | chr9 | 21971207 | - |
3UTR-5UTR | ENST00000427788 | ENST00000530628 | MTAP | chr9 | 21818201 | + | CDKN2A | chr9 | 21971207 | - |
3UTR-5UTR | ENST00000427788 | ENST00000578845 | MTAP | chr9 | 21818201 | + | CDKN2A | chr9 | 21971207 | - |
3UTR-intron | ENST00000427788 | ENST00000446177 | MTAP | chr9 | 21815518 | + | CDKN2A | chr9 | 21968241 | - |
3UTR-intron | ENST00000427788 | ENST00000470819 | MTAP | chr9 | 21818201 | + | CDKN2A | chr9 | 21971207 | - |
3UTR-intron | ENST00000427788 | ENST00000470819 | MTAP | chr9 | 21815518 | + | CDKN2A | chr9 | 21968241 | - |
3UTR-intron | ENST00000427788 | ENST00000479692 | MTAP | chr9 | 21815518 | + | CDKN2A | chr9 | 21968241 | - |
3UTR-intron | ENST00000427788 | ENST00000497750 | MTAP | chr9 | 21815518 | + | CDKN2A | chr9 | 21968241 | - |
5CDS-3UTR | ENST00000380172 | ENST00000304494 | MTAP | chr9 | 21815518 | + | CDKN2A | chr9 | 21968241 | - |
5CDS-3UTR | ENST00000380172 | ENST00000361570 | MTAP | chr9 | 21815518 | + | CDKN2A | chr9 | 21968241 | - |
5CDS-3UTR | ENST00000380172 | ENST00000494262 | MTAP | chr9 | 21815518 | + | CDKN2A | chr9 | 21968241 | - |
5CDS-3UTR | ENST00000380172 | ENST00000498124 | MTAP | chr9 | 21815518 | + | CDKN2A | chr9 | 21968241 | - |
5CDS-3UTR | ENST00000380172 | ENST00000498628 | MTAP | chr9 | 21815518 | + | CDKN2A | chr9 | 21968241 | - |
5CDS-3UTR | ENST00000380172 | ENST00000530628 | MTAP | chr9 | 21815518 | + | CDKN2A | chr9 | 21968241 | - |
5CDS-3UTR | ENST00000380172 | ENST00000578845 | MTAP | chr9 | 21815518 | + | CDKN2A | chr9 | 21968241 | - |
5CDS-3UTR | ENST00000380172 | ENST00000579122 | MTAP | chr9 | 21815518 | + | CDKN2A | chr9 | 21968241 | - |
5CDS-3UTR | ENST00000380172 | ENST00000579755 | MTAP | chr9 | 21815518 | + | CDKN2A | chr9 | 21968241 | - |
5CDS-3UTR | ENST00000460874 | ENST00000304494 | MTAP | chr9 | 21815518 | + | CDKN2A | chr9 | 21968241 | - |
5CDS-3UTR | ENST00000460874 | ENST00000361570 | MTAP | chr9 | 21815518 | + | CDKN2A | chr9 | 21968241 | - |
5CDS-3UTR | ENST00000460874 | ENST00000494262 | MTAP | chr9 | 21815518 | + | CDKN2A | chr9 | 21968241 | - |
5CDS-3UTR | ENST00000460874 | ENST00000498124 | MTAP | chr9 | 21815518 | + | CDKN2A | chr9 | 21968241 | - |
5CDS-3UTR | ENST00000460874 | ENST00000498628 | MTAP | chr9 | 21815518 | + | CDKN2A | chr9 | 21968241 | - |
5CDS-3UTR | ENST00000460874 | ENST00000530628 | MTAP | chr9 | 21815518 | + | CDKN2A | chr9 | 21968241 | - |
5CDS-3UTR | ENST00000460874 | ENST00000578845 | MTAP | chr9 | 21815518 | + | CDKN2A | chr9 | 21968241 | - |
5CDS-3UTR | ENST00000460874 | ENST00000579122 | MTAP | chr9 | 21815518 | + | CDKN2A | chr9 | 21968241 | - |
5CDS-3UTR | ENST00000460874 | ENST00000579755 | MTAP | chr9 | 21815518 | + | CDKN2A | chr9 | 21968241 | - |
5CDS-3UTR | ENST00000580900 | ENST00000304494 | MTAP | chr9 | 21815518 | + | CDKN2A | chr9 | 21968241 | - |
5CDS-3UTR | ENST00000580900 | ENST00000361570 | MTAP | chr9 | 21815518 | + | CDKN2A | chr9 | 21968241 | - |
5CDS-3UTR | ENST00000580900 | ENST00000494262 | MTAP | chr9 | 21815518 | + | CDKN2A | chr9 | 21968241 | - |
5CDS-3UTR | ENST00000580900 | ENST00000498124 | MTAP | chr9 | 21815518 | + | CDKN2A | chr9 | 21968241 | - |
5CDS-3UTR | ENST00000580900 | ENST00000498628 | MTAP | chr9 | 21815518 | + | CDKN2A | chr9 | 21968241 | - |
5CDS-3UTR | ENST00000580900 | ENST00000530628 | MTAP | chr9 | 21815518 | + | CDKN2A | chr9 | 21968241 | - |
5CDS-3UTR | ENST00000580900 | ENST00000578845 | MTAP | chr9 | 21815518 | + | CDKN2A | chr9 | 21968241 | - |
5CDS-3UTR | ENST00000580900 | ENST00000579122 | MTAP | chr9 | 21815518 | + | CDKN2A | chr9 | 21968241 | - |
5CDS-3UTR | ENST00000580900 | ENST00000579755 | MTAP | chr9 | 21815518 | + | CDKN2A | chr9 | 21968241 | - |
5CDS-5UTR | ENST00000380172 | ENST00000446177 | MTAP | chr9 | 21818201 | + | CDKN2A | chr9 | 21971207 | - |
5CDS-5UTR | ENST00000380172 | ENST00000479692 | MTAP | chr9 | 21818201 | + | CDKN2A | chr9 | 21971207 | - |
5CDS-5UTR | ENST00000380172 | ENST00000494262 | MTAP | chr9 | 21818201 | + | CDKN2A | chr9 | 21971207 | - |
5CDS-5UTR | ENST00000380172 | ENST00000497750 | MTAP | chr9 | 21818201 | + | CDKN2A | chr9 | 21971207 | - |
5CDS-5UTR | ENST00000380172 | ENST00000498124 | MTAP | chr9 | 21818201 | + | CDKN2A | chr9 | 21971207 | - |
5CDS-5UTR | ENST00000380172 | ENST00000498628 | MTAP | chr9 | 21818201 | + | CDKN2A | chr9 | 21971207 | - |
5CDS-5UTR | ENST00000380172 | ENST00000530628 | MTAP | chr9 | 21818201 | + | CDKN2A | chr9 | 21971207 | - |
5CDS-5UTR | ENST00000380172 | ENST00000578845 | MTAP | chr9 | 21818201 | + | CDKN2A | chr9 | 21971207 | - |
5CDS-5UTR | ENST00000460874 | ENST00000446177 | MTAP | chr9 | 21818201 | + | CDKN2A | chr9 | 21971207 | - |
5CDS-5UTR | ENST00000460874 | ENST00000479692 | MTAP | chr9 | 21818201 | + | CDKN2A | chr9 | 21971207 | - |
5CDS-5UTR | ENST00000460874 | ENST00000494262 | MTAP | chr9 | 21818201 | + | CDKN2A | chr9 | 21971207 | - |
5CDS-5UTR | ENST00000460874 | ENST00000497750 | MTAP | chr9 | 21818201 | + | CDKN2A | chr9 | 21971207 | - |
5CDS-5UTR | ENST00000460874 | ENST00000498124 | MTAP | chr9 | 21818201 | + | CDKN2A | chr9 | 21971207 | - |
5CDS-5UTR | ENST00000460874 | ENST00000498628 | MTAP | chr9 | 21818201 | + | CDKN2A | chr9 | 21971207 | - |
5CDS-5UTR | ENST00000460874 | ENST00000530628 | MTAP | chr9 | 21818201 | + | CDKN2A | chr9 | 21971207 | - |
5CDS-5UTR | ENST00000460874 | ENST00000578845 | MTAP | chr9 | 21818201 | + | CDKN2A | chr9 | 21971207 | - |
5CDS-5UTR | ENST00000580900 | ENST00000446177 | MTAP | chr9 | 21818201 | + | CDKN2A | chr9 | 21971207 | - |
5CDS-5UTR | ENST00000580900 | ENST00000479692 | MTAP | chr9 | 21818201 | + | CDKN2A | chr9 | 21971207 | - |
5CDS-5UTR | ENST00000580900 | ENST00000494262 | MTAP | chr9 | 21818201 | + | CDKN2A | chr9 | 21971207 | - |
5CDS-5UTR | ENST00000580900 | ENST00000497750 | MTAP | chr9 | 21818201 | + | CDKN2A | chr9 | 21971207 | - |
5CDS-5UTR | ENST00000580900 | ENST00000498124 | MTAP | chr9 | 21818201 | + | CDKN2A | chr9 | 21971207 | - |
5CDS-5UTR | ENST00000580900 | ENST00000498628 | MTAP | chr9 | 21818201 | + | CDKN2A | chr9 | 21971207 | - |
5CDS-5UTR | ENST00000580900 | ENST00000530628 | MTAP | chr9 | 21818201 | + | CDKN2A | chr9 | 21971207 | - |
5CDS-5UTR | ENST00000580900 | ENST00000578845 | MTAP | chr9 | 21818201 | + | CDKN2A | chr9 | 21971207 | - |
5CDS-intron | ENST00000380172 | ENST00000446177 | MTAP | chr9 | 21815518 | + | CDKN2A | chr9 | 21968241 | - |
5CDS-intron | ENST00000380172 | ENST00000470819 | MTAP | chr9 | 21818201 | + | CDKN2A | chr9 | 21971207 | - |
5CDS-intron | ENST00000380172 | ENST00000470819 | MTAP | chr9 | 21815518 | + | CDKN2A | chr9 | 21968241 | - |
5CDS-intron | ENST00000380172 | ENST00000479692 | MTAP | chr9 | 21815518 | + | CDKN2A | chr9 | 21968241 | - |
5CDS-intron | ENST00000380172 | ENST00000497750 | MTAP | chr9 | 21815518 | + | CDKN2A | chr9 | 21968241 | - |
5CDS-intron | ENST00000460874 | ENST00000446177 | MTAP | chr9 | 21815518 | + | CDKN2A | chr9 | 21968241 | - |
5CDS-intron | ENST00000460874 | ENST00000470819 | MTAP | chr9 | 21818201 | + | CDKN2A | chr9 | 21971207 | - |
5CDS-intron | ENST00000460874 | ENST00000470819 | MTAP | chr9 | 21815518 | + | CDKN2A | chr9 | 21968241 | - |
5CDS-intron | ENST00000460874 | ENST00000479692 | MTAP | chr9 | 21815518 | + | CDKN2A | chr9 | 21968241 | - |
5CDS-intron | ENST00000460874 | ENST00000497750 | MTAP | chr9 | 21815518 | + | CDKN2A | chr9 | 21968241 | - |
5CDS-intron | ENST00000580900 | ENST00000446177 | MTAP | chr9 | 21815518 | + | CDKN2A | chr9 | 21968241 | - |
5CDS-intron | ENST00000580900 | ENST00000470819 | MTAP | chr9 | 21818201 | + | CDKN2A | chr9 | 21971207 | - |
5CDS-intron | ENST00000580900 | ENST00000470819 | MTAP | chr9 | 21815518 | + | CDKN2A | chr9 | 21968241 | - |
5CDS-intron | ENST00000580900 | ENST00000479692 | MTAP | chr9 | 21815518 | + | CDKN2A | chr9 | 21968241 | - |
5CDS-intron | ENST00000580900 | ENST00000497750 | MTAP | chr9 | 21815518 | + | CDKN2A | chr9 | 21968241 | - |
Frame-shift | ENST00000380172 | ENST00000304494 | MTAP | chr9 | 21818201 | + | CDKN2A | chr9 | 21971207 | - |
Frame-shift | ENST00000380172 | ENST00000361570 | MTAP | chr9 | 21818201 | + | CDKN2A | chr9 | 21971207 | - |
Frame-shift | ENST00000380172 | ENST00000579122 | MTAP | chr9 | 21818201 | + | CDKN2A | chr9 | 21971207 | - |
Frame-shift | ENST00000380172 | ENST00000579755 | MTAP | chr9 | 21818201 | + | CDKN2A | chr9 | 21971207 | - |
Frame-shift | ENST00000460874 | ENST00000304494 | MTAP | chr9 | 21818201 | + | CDKN2A | chr9 | 21971207 | - |
Frame-shift | ENST00000460874 | ENST00000361570 | MTAP | chr9 | 21818201 | + | CDKN2A | chr9 | 21971207 | - |
Frame-shift | ENST00000460874 | ENST00000579122 | MTAP | chr9 | 21818201 | + | CDKN2A | chr9 | 21971207 | - |
Frame-shift | ENST00000460874 | ENST00000579755 | MTAP | chr9 | 21818201 | + | CDKN2A | chr9 | 21971207 | - |
Frame-shift | ENST00000580900 | ENST00000304494 | MTAP | chr9 | 21818201 | + | CDKN2A | chr9 | 21971207 | - |
Frame-shift | ENST00000580900 | ENST00000361570 | MTAP | chr9 | 21818201 | + | CDKN2A | chr9 | 21971207 | - |
Frame-shift | ENST00000580900 | ENST00000579122 | MTAP | chr9 | 21818201 | + | CDKN2A | chr9 | 21971207 | - |
Frame-shift | ENST00000580900 | ENST00000579755 | MTAP | chr9 | 21818201 | + | CDKN2A | chr9 | 21971207 | - |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
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Fusion Genomic Features for MTAP-CDKN2A |
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Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
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Fusion Protein Features for MTAP-CDKN2A |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:21818201/:21971207) - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. - How to search 1. Put your fusion gene symbol. 2. Press the tab key until there will be shown the breakpoint information filled. 4. Go down and press 'Search' tab twice. 4. Go down to have the hyperlink of the search result. 5. Click the hyperlink. 6. See the FGviewer result for your fusion gene. |
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Hgene | Tgene |
. | . |
FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}. | FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}. |
![]() * 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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Fusion Gene Sequence for MTAP-CDKN2A |
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Fusion Gene PPI Analysis for MTAP-CDKN2A |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
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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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Related Drugs for MTAP-CDKN2A |
![]() (DrugBank Version 5.1.8 2021-05-08) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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Related Diseases for MTAP-CDKN2A |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | MTAP | C0025202 | melanoma | 1 | CTD_human |
Hgene | MTAP | C0027960 | Nevus | 1 | CTD_human |
Hgene | MTAP | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
Hgene | MTAP | C0376358 | Malignant neoplasm of prostate | 1 | CTD_human |
Hgene | MTAP | C1862177 | Diaphyseal medullary stenosis with malignant fibrous histiocytoma | 1 | CTD_human;GENOMICS_ENGLAND;ORPHANET |
Tgene | C1835044 | MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 | 13 | CTD_human;GENOMICS_ENGLAND;UNIPROT | |
Tgene | C1838547 | MELANOMA-PANCREATIC CANCER SYNDROME | 10 | CLINGEN;CTD_human | |
Tgene | C0024121 | Lung Neoplasms | 4 | CTD_human;UNIPROT | |
Tgene | C0242379 | Malignant neoplasm of lung | 4 | CTD_human | |
Tgene | C0011570 | Mental Depression | 3 | PSYGENET | |
Tgene | C0011581 | Depressive disorder | 3 | PSYGENET | |
Tgene | C0023903 | Liver neoplasms | 3 | CTD_human | |
Tgene | C0345904 | Malignant neoplasm of liver | 3 | CTD_human | |
Tgene | C0345967 | Malignant mesothelioma | 3 | CTD_human | |
Tgene | C1168401 | Squamous cell carcinoma of the head and neck | 3 | CTD_human | |
Tgene | C0005684 | Malignant neoplasm of urinary bladder | 2 | CTD_human | |
Tgene | C0005695 | Bladder Neoplasm | 2 | CTD_human;UNIPROT | |
Tgene | C0006118 | Brain Neoplasms | 2 | CTD_human | |
Tgene | C0006826 | Malignant Neoplasms | 2 | CGI;CTD_human | |
Tgene | C0007131 | Non-Small Cell Lung Carcinoma | 2 | CTD_human;UNIPROT | |
Tgene | C0017638 | Glioma | 2 | CGI;CTD_human | |
Tgene | C0023452 | Childhood Acute Lymphoblastic Leukemia | 2 | CTD_human;GENOMICS_ENGLAND | |
Tgene | C0025202 | melanoma | 2 | CGI;CTD_human;GENOMICS_ENGLAND;UNIPROT | |
Tgene | C0027651 | Neoplasms | 2 | CTD_human | |
Tgene | C0030297 | Pancreatic Neoplasm | 2 | CGI;CTD_human;UNIPROT | |
Tgene | C0040715 | Chromosomal translocation | 2 | CTD_human | |
Tgene | C0041696 | Unipolar Depression | 2 | PSYGENET | |
Tgene | C0085390 | Li-Fraumeni Syndrome | 2 | ORPHANET | |
Tgene | C0086692 | Benign Neoplasm | 2 | CTD_human | |
Tgene | C0153633 | Malignant neoplasm of brain | 2 | CTD_human | |
Tgene | C0259783 | mixed gliomas | 2 | CTD_human | |
Tgene | C0346647 | Malignant neoplasm of pancreas | 2 | CGI;CTD_human | |
Tgene | C0496899 | Benign neoplasm of brain, unspecified | 2 | CTD_human | |
Tgene | C0555198 | Malignant Glioma | 2 | CTD_human | |
Tgene | C0750974 | Brain Tumor, Primary | 2 | CTD_human | |
Tgene | C0750977 | Recurrent Brain Neoplasm | 2 | CTD_human | |
Tgene | C0750979 | Primary malignant neoplasm of brain | 2 | CTD_human | |
Tgene | C1269683 | Major Depressive Disorder | 2 | PSYGENET | |
Tgene | C1527390 | Neoplasms, Intracranial | 2 | CTD_human | |
Tgene | C2239176 | Liver carcinoma | 2 | CTD_human | |
Tgene | C0001418 | Adenocarcinoma | 1 | CTD_human | |
Tgene | C0001624 | Adrenal Gland Neoplasms | 1 | CTD_human | |
Tgene | C0005940 | Bone Diseases | 1 | CTD_human | |
Tgene | C0006142 | Malignant neoplasm of breast | 1 | CTD_human | |
Tgene | C0006413 | Burkitt Lymphoma | 1 | ORPHANET | |
Tgene | C0007137 | Squamous cell carcinoma | 1 | CTD_human;UNIPROT | |
Tgene | C0008628 | Chromosome Deletion | 1 | CTD_human | |
Tgene | C0014859 | Esophageal Neoplasms | 1 | CTD_human;UNIPROT | |
Tgene | C0016325 | Fluoride Poisoning | 1 | CTD_human | |
Tgene | C0017601 | Glaucoma | 1 | CTD_human | |
Tgene | C0022783 | Vulvar Lichen Sclerosus | 1 | CTD_human | |
Tgene | C0023449 | Acute lymphocytic leukemia | 1 | GENOMICS_ENGLAND | |
Tgene | C0023453 | L2 Acute Lymphoblastic Leukemia | 1 | CTD_human | |
Tgene | C0024232 | Lymphatic Metastasis | 1 | CTD_human | |
Tgene | C0024299 | Lymphoma | 1 | CTD_human | |
Tgene | C0024623 | Malignant neoplasm of stomach | 1 | CTD_human | |
Tgene | C0025500 | Mesothelioma | 1 | CTD_human | |
Tgene | C0026640 | Mouth Neoplasms | 1 | CTD_human | |
Tgene | C0026764 | Multiple Myeloma | 1 | CTD_human | |
Tgene | C0027626 | Neoplasm Invasiveness | 1 | CTD_human | |
Tgene | C0027819 | Neuroblastoma | 1 | CTD_human | |
Tgene | C0032927 | Precancerous Conditions | 1 | CTD_human | |
Tgene | C0036920 | Sezary Syndrome | 1 | CTD_human | |
Tgene | C0038356 | Stomach Neoplasms | 1 | CTD_human | |
Tgene | C0040100 | Thymoma | 1 | CTD_human | |
Tgene | C0041107 | Trisomy | 1 | CTD_human | |
Tgene | C0042065 | Genitourinary Neoplasms | 1 | CTD_human | |
Tgene | C0079744 | Diffuse Large B-Cell Lymphoma | 1 | CTD_human | |
Tgene | C0079773 | Lymphoma, T-Cell, Cutaneous | 1 | CTD_human | |
Tgene | C0151779 | Cutaneous Melanoma | 1 | CGI;CTD_human | |
Tgene | C0153381 | Malignant neoplasm of mouth | 1 | CTD_human | |
Tgene | C0205641 | Adenocarcinoma, Basal Cell | 1 | CTD_human | |
Tgene | C0205642 | Adenocarcinoma, Oxyphilic | 1 | CTD_human | |
Tgene | C0205643 | Carcinoma, Cribriform | 1 | CTD_human | |
Tgene | C0205644 | Carcinoma, Granular Cell | 1 | CTD_human | |
Tgene | C0205645 | Adenocarcinoma, Tubular | 1 | CTD_human | |
Tgene | C0205969 | Thymic Carcinoma | 1 | CTD_human | |
Tgene | C0206686 | Adrenocortical carcinoma | 1 | CTD_human | |
Tgene | C0206727 | Nerve Sheath Tumors | 1 | CTD_human | |
Tgene | C0279626 | Squamous cell carcinoma of esophagus | 1 | CTD_human | |
Tgene | C0279628 | Adenocarcinoma Of Esophagus | 1 | CTD_human | |
Tgene | C0282313 | Condition, Preneoplastic | 1 | CTD_human | |
Tgene | C0376407 | Granulomatous Slack Skin | 1 | CTD_human | |
Tgene | C0546837 | Malignant neoplasm of esophagus | 1 | CTD_human | |
Tgene | C0596263 | Carcinogenesis | 1 | CTD_human | |
Tgene | C0677866 | Brain Stem Neoplasms | 1 | CTD_human | |
Tgene | C0678222 | Breast Carcinoma | 1 | CTD_human | |
Tgene | C0750887 | Adrenal Cancer | 1 | CTD_human | |
Tgene | C0751569 | Genitourinary Cancer | 1 | CTD_human | |
Tgene | C0751606 | Adult Acute Lymphocytic Leukemia | 1 | GENOMICS_ENGLAND | |
Tgene | C0751689 | Peripheral Nerve Sheath Neoplasm | 1 | CTD_human | |
Tgene | C0751691 | Perineurioma | 1 | CTD_human | |
Tgene | C0751886 | Brain Stem Neoplasms, Primary | 1 | CTD_human | |
Tgene | C0751887 | Medullary Neoplasms | 1 | CTD_human | |
Tgene | C0751888 | Mesencephalic Neoplasms | 1 | CTD_human | |
Tgene | C0751889 | Pontine Tumors | 1 | CTD_human | |
Tgene | C0887833 | Carcinoma, Pancreatic Ductal | 1 | CTD_human | |
Tgene | C1257931 | Mammary Neoplasms, Human | 1 | CTD_human | |
Tgene | C1292769 | Precursor B-cell lymphoblastic leukemia | 1 | ORPHANET | |
Tgene | C1297882 | Partial Trisomy | 1 | CTD_human | |
Tgene | C1449861 | Micronuclei, Chromosome-Defective | 1 | CTD_human | |
Tgene | C1449862 | Micronuclei, Genotoxicant-Induced | 1 | CTD_human | |
Tgene | C1458155 | Mammary Neoplasms | 1 | CTD_human | |
Tgene | C1708349 | Hereditary Diffuse Gastric Cancer | 1 | CTD_human | |
Tgene | C1835042 | Melanoma astrocytoma syndrome | 1 | CTD_human;ORPHANET | |
Tgene | C1961099 | Precursor T-Cell Lymphoblastic Leukemia-Lymphoma | 1 | ORPHANET | |
Tgene | C1961102 | Precursor Cell Lymphoblastic Leukemia Lymphoma | 1 | CTD_human | |
Tgene | C2314896 | Familial Atypical Mole Melanoma Syndrome | 1 | ORPHANET | |
Tgene | C2930745 | Partial Monosomy | 1 | CTD_human | |
Tgene | C2931038 | Pancreatic carcinoma, familial | 1 | ORPHANET | |
Tgene | C2931822 | Nasopharyngeal carcinoma | 1 | CTD_human | |
Tgene | C4283859 | Cutaneous Malignant Melanoma 2 | 1 | GENOMICS_ENGLAND | |
Tgene | C4704874 | Mammary Carcinoma, Human | 1 | CTD_human | |
Tgene | C4721453 | Peripheral Nervous System Diseases | 1 | CTD_human |