Fusion partner gene information | Fusion gene name: ATAD5-NF1 |
FusionPDB ID: 7377 | FusionGDB2.0 ID: 7377 | | Hgene | Tgene | Gene symbol | ATAD5 | NF1 | Gene ID | 79915 | 4763 | Gene name | ATPase family AAA domain containing 5 | neurofibromin 1 |
Synonyms | C17orf41|ELG1|FRAG1 | NFNS|VRNF|WSS |
Cytomap | 17q11.2 | 17q11.2 |
Type of gene | protein-coding | protein-coding |
Description | ATPase family AAA domain-containing protein 5chromosome fragility associated gene 1chromosome fragility-associated gene 1 proteinenhanced level of genomic instability 1 homolog | neurofibrominneurofibromatosis 1neurofibromatosis-related protein NF-1truncated neurofibromin 1 |
Modification date | 20200313 | 20200322 |
UniProtAcc | Q96QE3 Main function of 5'-partner protein: FUNCTION: Involved in DNA damage response. Involved in a RAD9A-related damage checkpoint, a pathway that is important in determining whether DNA damage is compatible with cell survival or whether it requires cell elimination by apoptosis. Modulates the RAD9A interaction with BCL2 and thereby induces DNA damages-induced apoptosis. {ECO:0000269|PubMed:15983387}. | P21359 Main function of 5'-partner protein: FUNCTION: Stimulates the GTPase activity of Ras. NF1 shows greater affinity for Ras GAP, but lower specific activity. May be a regulator of Ras activity. {ECO:0000269|PubMed:2121371, ECO:0000269|PubMed:8417346}. |
Ensembl transtripts involved in fusion gene | ENST ids | ENST00000321990, | ENST00000417592, ENST00000444181, ENST00000581113, ENST00000356175, ENST00000358273, ENST00000431387, |
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0) | * DoF score | 10 X 11 X 6=660 | 28 X 30 X 15=12600 |
# samples | 11 | 33 |
** MAII score | log2(11/660*10)=-2.58496250072116 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(33/12600*10)=-5.25481389902883 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 |
Fusion gene context | PubMed: ATAD5 [Title/Abstract] AND NF1 [Title/Abstract] AND fusion [Title/Abstract] |
Fusion neoantigen context | PubMed: ATAD5 [Title/Abstract] AND NF1 [Title/Abstract] AND neoantigen [Title/Abstract] |
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | ATAD5(29159431)-NF1(29483000), # samples:2 NF1(29497015)-ATAD5(29192722), # samples:2
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Anticipated loss of major functional domain due to fusion event. | ATAD5-NF1 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. ATAD5-NF1 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. ATAD5-NF1 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. ATAD5-NF1 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. NF1-ATAD5 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. NF1-ATAD5 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. NF1-ATAD5 seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF. NF1-ATAD5 seems lost the major protein functional domain in Hgene partner, which is a tumor suppressor due to the frame-shifted ORF. NF1-ATAD5 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF.
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Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | NF1 | C0027831 | Neurofibromatosis 1 | 44 | CTD_human;GENOMICS_ENGLAND;UNIPROT |
Tgene | NF1 | C1708353 | Hereditary Paraganglioma-Pheochromocytoma Syndrome | 10 | CLINGEN |
Tgene | NF1 | C0349639 | Juvenile Myelomonocytic Leukemia | 7 | CTD_human;GENOMICS_ENGLAND;ORPHANET |
Tgene | NF1 | C2931482 | Neurofibromatosis-Noonan syndrome | 6 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
Tgene | NF1 | C0553586 | Cafe-au-lait macules with pulmonary stenosis | 5 | CTD_human;GENOMICS_ENGLAND;ORPHANET |
Tgene | NF1 | C0162678 | Neurofibromatoses | 3 | CGI;CTD_human;GENOMICS_ENGLAND |
Tgene | NF1 | C0004114 | Astrocytoma | 2 | CTD_human |
Tgene | NF1 | C0023467 | Leukemia, Myelocytic, Acute | 2 | CTD_human |
Tgene | NF1 | C0025202 | melanoma | 2 | CGI;CTD_human |
Tgene | NF1 | C0026998 | Acute Myeloid Leukemia, M1 | 2 | CTD_human |
Tgene | NF1 | C0205768 | Subependymal Giant Cell Astrocytoma | 2 | CTD_human |
Tgene | NF1 | C0206727 | Nerve Sheath Tumors | 2 | CTD_human |
Tgene | NF1 | C0280783 | Juvenile Pilocytic Astrocytoma | 2 | CTD_human |
Tgene | NF1 | C0280785 | Diffuse Astrocytoma | 2 | CTD_human |
Tgene | NF1 | C0334579 | Anaplastic astrocytoma | 2 | CTD_human |
Tgene | NF1 | C0334580 | Protoplasmic astrocytoma | 2 | CTD_human |
Tgene | NF1 | C0334581 | Gemistocytic astrocytoma | 2 | CTD_human |
Tgene | NF1 | C0334582 | Fibrillary Astrocytoma | 2 | CTD_human |
Tgene | NF1 | C0334583 | Pilocytic Astrocytoma | 2 | CTD_human |
Tgene | NF1 | C0338070 | Childhood Cerebral Astrocytoma | 2 | CTD_human |
Tgene | NF1 | C0547065 | Mixed oligoastrocytoma | 2 | CTD_human |
Tgene | NF1 | C0750935 | Cerebral Astrocytoma | 2 | CTD_human |
Tgene | NF1 | C0750936 | Intracranial Astrocytoma | 2 | CTD_human |
Tgene | NF1 | C0751689 | Peripheral Nerve Sheath Neoplasm | 2 | CTD_human |
Tgene | NF1 | C0751691 | Perineurioma | 2 | CTD_human |
Tgene | NF1 | C1704230 | Grade I Astrocytoma | 2 | CTD_human |
Tgene | NF1 | C1834235 | NEUROFIBROMATOSIS, FAMILIAL SPINAL | 2 | CTD_human;GENOMICS_ENGLAND;UNIPROT |
Tgene | NF1 | C1879321 | Acute Myeloid Leukemia (AML-M2) | 2 | CTD_human |
Tgene | NF1 | C0001430 | Adenoma | 1 | CTD_human |
Tgene | NF1 | C0004352 | Autistic Disorder | 1 | CTD_human |
Tgene | NF1 | C0016057 | Fibrosarcoma | 1 | CTD_human |
Tgene | NF1 | C0017636 | Glioblastoma | 1 | CTD_human |
Tgene | NF1 | C0017638 | Glioma | 1 | CGI;CTD_human |
Tgene | NF1 | C0020796 | Profound Mental Retardation | 1 | CTD_human |
Tgene | NF1 | C0023186 | Learning Disorders | 1 | CTD_human |
Tgene | NF1 | C0023827 | liposarcoma | 1 | CTD_human |
Tgene | NF1 | C0025363 | Mental Retardation, Psychosocial | 1 | CTD_human |
Tgene | NF1 | C0026654 | Moyamoya Disease | 1 | GENOMICS_ENGLAND |
Tgene | NF1 | C0027809 | Neurilemmoma | 1 | CTD_human |
Tgene | NF1 | C0027830 | neurofibroma | 1 | CTD_human |
Tgene | NF1 | C0027962 | Melanocytic nevus | 1 | CTD_human |
Tgene | NF1 | C0028326 | Noonan Syndrome | 1 | GENOMICS_ENGLAND |
Tgene | NF1 | C0031511 | Pheochromocytoma | 1 | CTD_human |
Tgene | NF1 | C0035320 | Retinal Neovascularization | 1 | CTD_human |
Tgene | NF1 | C0205646 | Adenoma, Basal Cell | 1 | CTD_human |
Tgene | NF1 | C0205647 | Follicular adenoma | 1 | CTD_human |
Tgene | NF1 | C0205648 | Adenoma, Microcystic | 1 | CTD_human |
Tgene | NF1 | C0205649 | Adenoma, Monomorphic | 1 | CTD_human |
Tgene | NF1 | C0205650 | Papillary adenoma | 1 | CTD_human |
Tgene | NF1 | C0205651 | Adenoma, Trabecular | 1 | CTD_human |
Tgene | NF1 | C0205824 | Liposarcoma, Dedifferentiated | 1 | CTD_human |
Tgene | NF1 | C0205825 | Liposarcoma, Pleomorphic | 1 | CTD_human |
Tgene | NF1 | C0205944 | Sarcoma, Epithelioid | 1 | CTD_human |
Tgene | NF1 | C0205945 | Sarcoma, Spindle Cell | 1 | CTD_human |
Tgene | NF1 | C0259783 | mixed gliomas | 1 | CTD_human |
Tgene | NF1 | C0334588 | Giant Cell Glioblastoma | 1 | CTD_human |
Tgene | NF1 | C0555198 | Malignant Glioma | 1 | CTD_human |
Tgene | NF1 | C0751262 | Adult Learning Disorders | 1 | CTD_human |
Tgene | NF1 | C0751263 | Learning Disturbance | 1 | CTD_human |
Tgene | NF1 | C0751265 | Learning Disabilities | 1 | CTD_human |
Tgene | NF1 | C0751374 | Schwannomatosis, Plexiform | 1 | CTD_human |
Tgene | NF1 | C0917816 | Mental deficiency | 1 | CTD_human |
Tgene | NF1 | C0917817 | Neurofibromatosis 3 | 1 | CTD_human |
Tgene | NF1 | C1257877 | Pheochromocytoma, Extra-Adrenal | 1 | CTD_human |
Tgene | NF1 | C1261473 | Sarcoma | 1 | CTD_human |
Tgene | NF1 | C1330966 | Developmental Academic Disorder | 1 | CTD_human |
Tgene | NF1 | C1370889 | Liposarcoma, well differentiated | 1 | CTD_human |
Tgene | NF1 | C1621958 | Glioblastoma Multiforme | 1 | CTD_human |
Tgene | NF1 | C3150928 | NF1 Microdeletion Syndrome | 1 | ORPHANET |
Tgene | NF1 | C3714756 | Intellectual Disability | 1 | CTD_human |