Fusion gene information | Fusion gene name: MDH1-CTNNA1 |
Fusion gene ID: hg4190tg1495 | | Hgene | Tgene | Gene symbol | MDH1 | CTNNA1 | Gene ID | 4190 | 1495 | Gene name | malate dehydrogenase 1 | catenin alpha 1 |
Synonyms | HEL-S-32|MDH-s|MDHA|MGC:1375|MOR2 | CAP102|MDPT2 |
Cytomap | ('MDH1')('CTNNA1') 2p15 | 5q31.2 |
Type of gene | protein-coding | protein-coding |
Description | malate dehydrogenase, cytoplasmicmalate dehydrogenase, peroxisomalcytosolic malate dehydrogenasediiodophenylpyruvate reductaseepididymis secretory protein Li 32malate dehydrogenase 1, NAD (soluble)soluble malate dehydrogenase | catenin alpha-1alpha-E-catenincatenin (cadherin-associated protein), alpha 1, 102kDaepididymis secretory sperm binding proteinrenal carcinoma antigen NY-REN-13 |
Modification date | 20200313 | 20200313 |
UniProtAcc | . | P35221 |
Ensembl transtripts involved in fusion gene | ENST00000462944, ENST00000233114, ENST00000409476, ENST00000409908, ENST00000394423, ENST00000539945, ENST00000544381, | |
Fusion gene scores | * DoF score | 5 X 7 X 3=105 | 16 X 20 X 7=2240 |
# samples | 7 | 22 |
** MAII score | log2(7/105*10)=-0.584962500721156 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(22/2240*10)=-3.34792330342031 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 |
Context | PubMed: MDH1 [Title/Abstract] AND CTNNA1 [Title/Abstract] AND fusion [Title/Abstract] |
Most frequent breakpoint | MDH1(63816146)-CTNNA1(138269887), # samples:1
|
Anticipated loss of major functional domain due to fusion event. | |
Hgene | Tgene |
. | CTNNA1
P35221 |
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: Associates with the cytoplasmic domain of a variety of cadherins. The association of catenins to cadherins produces a complex which is linked to the actin filament network, and which seems to be of primary importance for cadherins cell-adhesion properties. Can associate with both E- and N-cadherins. Originally believed to be a stable component of E-cadherin/catenin adhesion complexes and to mediate the linkage of cadherins to the actin cytoskeleton at adherens junctions. In contrast, cortical actin was found to be much more dynamic than E-cadherin/catenin complexes and CTNNA1 was shown not to bind to F-actin when assembled in the complex suggesting a different linkage between actin and adherens junctions components. The homodimeric form may regulate actin filament assembly and inhibit actin branching by competing with the Arp2/3 complex for binding to actin filaments. Involved in the regulation of WWTR1/TAZ, YAP1 and TGFB1-dependent SMAD2 and SMAD3 nuclear accumulation (By similarity). May play a crucial role in cell differentiation. {ECO:0000250|UniProtKB:P26231, ECO:0000269|PubMed:25653389}. |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | MDH1 | C0019193 | Hepatitis, Toxic | 1 | CTD_human |
Hgene | MDH1 | C0020538 | Hypertensive disease | 1 | CTD_human |
Hgene | MDH1 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
Hgene | MDH1 | C0035222 | Respiratory Distress Syndrome, Adult | 1 | CTD_human |
Hgene | MDH1 | C0036341 | Schizophrenia | 1 | PSYGENET |
Hgene | MDH1 | C0860207 | Drug-Induced Liver Disease | 1 | CTD_human |
Hgene | MDH1 | C1262760 | Hepatitis, Drug-Induced | 1 | CTD_human |
Hgene | MDH1 | C3658290 | Drug-Induced Acute Liver Injury | 1 | CTD_human |
Hgene | MDH1 | C4277682 | Chemical and Drug Induced Liver Injury | 1 | CTD_human |
Hgene | MDH1 | C4279912 | Chemically-Induced Liver Toxicity | 1 | CTD_human |
Tgene | | C1708349 | Hereditary Diffuse Gastric Cancer | 3 | ORPHANET |
Tgene | | C0023467 | Leukemia, Myelocytic, Acute | 1 | CTD_human |
Tgene | | C0026998 | Acute Myeloid Leukemia, M1 | 1 | CTD_human |
Tgene | | C0238198 | Gastrointestinal Stromal Tumors | 1 | CTD_human |
Tgene | | C1837029 | Macular Dystrophy, Butterfly-Shaped Pigmentary, 2 | 1 | CTD_human;UNIPROT |
Tgene | | C1868569 | Patterned dystrophy of retinal pigment epithelium | 1 | CTD_human |
Tgene | | C1879321 | Acute Myeloid Leukemia (AML-M2) | 1 | CTD_human |
Tgene | | C2713368 | Hematopoetic Myelodysplasia | 1 | CTD_human |
Tgene | | C3179349 | Gastrointestinal Stromal Sarcoma | 1 | CTD_human |
Tgene | | C3463824 | MYELODYSPLASTIC SYNDROME | 1 | CTD_human |
Tgene | | C4511237 | Butterfly-shaped pigmentary macular dystrophy | 1 | ORPHANET |