Fusion partner gene information | Fusion gene name: RAB11FIP4-NF1 |
FusionPDB ID: 71165 | FusionGDB2.0 ID: 71165 | | Hgene | Tgene | Gene symbol | RAB11FIP4 | NF1 | Gene ID | 84440 | 4763 | Gene name | RAB11 family interacting protein 4 | neurofibromin 1 |
Synonyms | FIP4-Rab11|RAB11-FIP4 | NFNS|VRNF|WSS |
Cytomap | 17q11.2 | 17q11.2 |
Type of gene | protein-coding | protein-coding |
Description | rab11 family-interacting protein 4RAB11 family interacting protein 4 (class II)arfophilin-2 | neurofibrominneurofibromatosis 1neurofibromatosis-related protein NF-1truncated neurofibromin 1 |
Modification date | 20200313 | 20200322 |
UniProtAcc | . | 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 | ENST00000394744, ENST00000325874, ENST00000581280, | ENST00000417592, ENST00000431387, ENST00000444181, ENST00000581113, ENST00000356175, ENST00000358273, |
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0) | * DoF score | 7 X 5 X 6=210 | 28 X 30 X 15=12600 |
# samples | 8 | 33 |
** MAII score | log2(8/210*10)=-1.39231742277876 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: RAB11FIP4 [Title/Abstract] AND NF1 [Title/Abstract] AND fusion [Title/Abstract] |
Fusion neoantigen context | PubMed: RAB11FIP4 [Title/Abstract] AND NF1 [Title/Abstract] AND neoantigen [Title/Abstract] |
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | NF1(29592357)-RAB11FIP4(29844669), # samples:4 NF1(29422387)-RAB11FIP4(29758831), # samples:4 RAB11FIP4(29815290)-NF1(29701031), # samples:1
|
Anticipated loss of major functional domain due to fusion event. | NF1-RAB11FIP4 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-RAB11FIP4 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. RAB11FIP4-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. RAB11FIP4-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. RAB11FIP4-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. RAB11FIP4-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-RAB11FIP4 seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF. NF1-RAB11FIP4 seems lost the major protein functional domain in Hgene partner, which is a tumor suppressor due to the frame-shifted ORF. NF1-RAB11FIP4 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF.
|
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 |