Fusion gene information | Fusion gene name: IFT88-TNFRSF1A |
Fusion gene ID: hg8100tg7132 | | Hgene | Tgene | Gene symbol | IFT88 | TNFRSF1A | Gene ID | 8100 | 7132 | Gene name | intraflagellar transport 88 | TNF receptor superfamily member 1A |
Synonyms | D13S1056E|DAF19|TG737|TTC10|hTg737 | CD120a|FPF|TBP1|TNF-R|TNF-R-I|TNF-R55|TNFAR|TNFR1|TNFR55|TNFR60|p55|p55-R|p60 |
Cytomap | ('IFT88')('TNFRSF1A') 13q12.11 | 12p13.31 |
Type of gene | protein-coding | protein-coding |
Description | intraflagellar transport protein 88 homologTPR repeat protein 10intraflagellar transport 88 homologpolaris homologprobe hTg737 (polycystic kidney disease, autosomal recessive)recessive polycystic kidney disease protein Tg737 homologtesticular tissue | tumor necrosis factor receptor superfamily member 1ATNF-R1TNF-RITNFR-Itumor necrosis factor binding protein 1tumor necrosis factor receptor 1A isoform betatumor necrosis factor receptor type 1tumor necrosis factor-alpha receptor |
Modification date | 20200313 | 20200322 |
UniProtAcc | . | . |
Ensembl transtripts involved in fusion gene | ENST00000319980, ENST00000351808, ENST00000382778, ENST00000461115, ENST00000537103, | |
Fusion gene scores | * DoF score | 5 X 5 X 3=75 | 13 X 13 X 3=507 |
# samples | 6 | 15 |
** MAII score | log2(6/75*10)=-0.321928094887362 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(15/507*10)=-1.75702324650746 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 |
Context | PubMed: IFT88 [Title/Abstract] AND TNFRSF1A [Title/Abstract] AND fusion [Title/Abstract] |
Most frequent breakpoint | IFT88(21195197)-TNFRSF1A(6437937), # samples:1
|
Anticipated loss of major functional domain due to fusion event. | |
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}. |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | IFT88 | C0085548 | Autosomal Recessive Polycystic Kidney Disease | 2 | CTD_human |
Hgene | IFT88 | C0023903 | Liver neoplasms | 1 | CTD_human |
Hgene | IFT88 | C0032927 | Precancerous Conditions | 1 | CTD_human |
Hgene | IFT88 | C0035334 | Retinitis Pigmentosa | 1 | ORPHANET |
Hgene | IFT88 | C0152427 | Polydactyly | 1 | CTD_human |
Hgene | IFT88 | C0238198 | Gastrointestinal Stromal Tumors | 1 | CTD_human |
Hgene | IFT88 | C0282313 | Condition, Preneoplastic | 1 | CTD_human |
Hgene | IFT88 | C0345904 | Malignant neoplasm of liver | 1 | CTD_human |
Hgene | IFT88 | C3179349 | Gastrointestinal Stromal Sarcoma | 1 | CTD_human |
Tgene | | C1275126 | TNF receptor-associated periodic fever syndrome (TRAPS) | 7 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
Tgene | | C0011570 | Mental Depression | 5 | PSYGENET |
Tgene | | C0011581 | Depressive disorder | 5 | PSYGENET |
Tgene | | C0026769 | Multiple Sclerosis | 2 | CTD_human |
Tgene | | C0751324 | Multiple Sclerosis, Acute Fulminating | 2 | CTD_human |
Tgene | | C0002152 | Alloxan Diabetes | 1 | CTD_human |
Tgene | | C0003123 | Anorexia | 1 | CTD_human |
Tgene | | C0004364 | Autoimmune Diseases | 1 | CTD_human |
Tgene | | C0006625 | Cachexia | 1 | CTD_human |
Tgene | | C0007786 | Brain Ischemia | 1 | CTD_human |
Tgene | | C0008312 | Primary biliary cirrhosis | 1 | CTD_human |
Tgene | | C0010674 | Cystic Fibrosis | 1 | CTD_human |
Tgene | | C0011853 | Diabetes Mellitus, Experimental | 1 | CTD_human |
Tgene | | C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | 1 | CTD_human |
Tgene | | C0015967 | Fever | 1 | CTD_human |
Tgene | | C0018801 | Heart failure | 1 | CTD_human |
Tgene | | C0018802 | Congestive heart failure | 1 | CTD_human |
Tgene | | C0020517 | Hypersensitivity | 1 | CTD_human |
Tgene | | C0023212 | Left-Sided Heart Failure | 1 | CTD_human |
Tgene | | C0023892 | Biliary cirrhosis | 1 | CTD_human |
Tgene | | C0032285 | Pneumonia | 1 | CTD_human |
Tgene | | C0032300 | Lobar Pneumonia | 1 | CTD_human |
Tgene | | C0036341 | Schizophrenia | 1 | PSYGENET |
Tgene | | C0038433 | Streptozotocin Diabetes | 1 | CTD_human |
Tgene | | C0149910 | Intermittent joint effusion | 1 | ORPHANET |
Tgene | | C0235527 | Heart Failure, Right-Sided | 1 | CTD_human |
Tgene | | C0238065 | Secondary Biliary Cholangitis | 1 | CTD_human |
Tgene | | C0242706 | Hyperoxia | 1 | CTD_human |
Tgene | | C0273115 | Lung Injury | 1 | CTD_human |
Tgene | | C0392164 | Pulmonary Cystic Fibrosis | 1 | CTD_human |
Tgene | | C0751422 | Hereditary Autoinflammatory Diseases | 1 | GENOMICS_ENGLAND |
Tgene | | C0887898 | Experimental Lung Inflammation | 1 | CTD_human |
Tgene | | C0917798 | Cerebral Ischemia | 1 | CTD_human |
Tgene | | C1527304 | Allergic Reaction | 1 | CTD_human |
Tgene | | C1527396 | Fibrocystic Disease of Pancreas | 1 | CTD_human |
Tgene | | C1959583 | Myocardial Failure | 1 | CTD_human |
Tgene | | C1961112 | Heart Decompensation | 1 | CTD_human |
Tgene | | C2350344 | Chronic Lung Injury | 1 | CTD_human |
Tgene | | C3714636 | Pneumonitis | 1 | CTD_human |
Tgene | | C3860213 | Autoinflammatory disorder | 1 | GENOMICS_ENGLAND |
Tgene | | C4551595 | Biliary Cirrhosis, Primary, 1 | 1 | CTD_human |