Fusion gene information | Fusion gene name: COL5A2-VIM |
Fusion gene ID: hg1290tg7431 | | Hgene | Tgene | Gene symbol | COL5A2 | VIM | Gene ID | 1290 | 7431 | Gene name | collagen type V alpha 2 chain | vimentin |
Synonyms | EDSC|EDSCL2 | - |
Cytomap | ('COL5A2')('VIM') 2q32.2 | 10p13 |
Type of gene | protein-coding | protein-coding |
Description | collagen alpha-2(V) chainAB collagencollagen, fetal membrane, A polypeptidetype V preprocollagen alpha 2 chain | vimentinepididymis secretory sperm binding protein |
Modification date | 20200313 | 20200327 |
UniProtAcc | P05997 | . |
Ensembl transtripts involved in fusion gene | ENST00000374866, | |
Fusion gene scores | * DoF score | 12 X 11 X 5=660 | 42 X 25 X 11=11550 |
# samples | 12 | 41 |
** MAII score | log2(12/660*10)=-2.4594316186373 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(41/11550*10)=-4.81612513168534 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 |
Context | PubMed: COL5A2 [Title/Abstract] AND VIM [Title/Abstract] AND fusion [Title/Abstract] |
Most frequent breakpoint | COL5A2(189897473)-VIM(17277284), # samples:1
|
Anticipated loss of major functional domain due to fusion event. | |
Hgene | Tgene |
COL5A2
P05997 | . |
FUNCTION: Type V collagen is a member of group I collagen (fibrillar forming collagen). It is a minor connective tissue component of nearly ubiquitous distribution. Type V collagen binds to DNA, heparan sulfate, thrombospondin, heparin, and insulin. Type V collagen is a key determinant in the assembly of tissue-specific matrices (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 | COL5A2 | C4538407 | EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2 | 4 | GENOMICS_ENGLAND;UNIPROT |
Hgene | COL5A2 | C4552122 | EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 | 3 | GENOMICS_ENGLAND |
Hgene | COL5A2 | C0220679 | Ehlers-Danlos Syndrome, Autosomal Dominant, Type Unspecified | 2 | ORPHANET |
Hgene | COL5A2 | C3151201 | MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME | 2 | GENOMICS_ENGLAND |
Hgene | COL5A2 | C0000786 | Spontaneous abortion | 1 | CTD_human |
Hgene | COL5A2 | C0000822 | Abortion, Tubal | 1 | CTD_human |
Hgene | COL5A2 | C0005779 | Blood Coagulation Disorders | 1 | GENOMICS_ENGLAND |
Hgene | COL5A2 | C0023890 | Liver Cirrhosis | 1 | CTD_human |
Hgene | COL5A2 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
Hgene | COL5A2 | C0239946 | Fibrosis, Liver | 1 | CTD_human |
Hgene | COL5A2 | C0268335 | Ehlers-Danlos syndrome type 1 | 1 | GENOMICS_ENGLAND |
Hgene | COL5A2 | C0268336 | Ehlers-Danlos syndrome type 2 | 1 | GENOMICS_ENGLAND |
Hgene | COL5A2 | C1458140 | Bleeding tendency | 1 | GENOMICS_ENGLAND |
Hgene | COL5A2 | C1846545 | Autoimmune Lymphoproliferative Syndrome Type 2B | 1 | GENOMICS_ENGLAND |
Hgene | COL5A2 | C3830362 | Early Pregnancy Loss | 1 | CTD_human |
Hgene | COL5A2 | C4225429 | Ehlers-Danlos syndrome classic type | 1 | GENOMICS_ENGLAND |
Hgene | COL5A2 | C4552766 | Miscarriage | 1 | CTD_human |
Tgene | | C0006142 | Malignant neoplasm of breast | 4 | CTD_human |
Tgene | | C0678222 | Breast Carcinoma | 4 | CTD_human |
Tgene | | C1257931 | Mammary Neoplasms, Human | 4 | CTD_human |
Tgene | | C1458155 | Mammary Neoplasms | 4 | CTD_human |
Tgene | | C3805411 | CATARACT 30 | 4 | GENOMICS_ENGLAND;UNIPROT |
Tgene | | C4704874 | Mammary Carcinoma, Human | 4 | CTD_human |
Tgene | | C0023890 | Liver Cirrhosis | 2 | CTD_human |
Tgene | | C0029408 | Degenerative polyarthritis | 2 | CTD_human |
Tgene | | C0033578 | Prostatic Neoplasms | 2 | CTD_human |
Tgene | | C0086743 | Osteoarthrosis Deformans | 2 | CTD_human |
Tgene | | C0239946 | Fibrosis, Liver | 2 | CTD_human |
Tgene | | C0376358 | Malignant neoplasm of prostate | 2 | CTD_human |
Tgene | | C0007140 | Carcinosarcoma | 1 | CTD_human |
Tgene | | C0007621 | Neoplastic Cell Transformation | 1 | CTD_human |
Tgene | | C0019193 | Hepatitis, Toxic | 1 | CTD_human |
Tgene | | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
Tgene | | C0027626 | Neoplasm Invasiveness | 1 | CTD_human |
Tgene | | C0027627 | Neoplasm Metastasis | 1 | CTD_human |
Tgene | | C0027720 | Nephrosis | 1 | CTD_human |
Tgene | | C0031149 | Peritoneal Neoplasms | 1 | CTD_human |
Tgene | | C0035126 | Reperfusion Injury | 1 | CTD_human |
Tgene | | C0035309 | Retinal Diseases | 1 | CTD_human |
Tgene | | C0039101 | synovial sarcoma | 1 | CTD_human |
Tgene | | C0043094 | Weight Gain | 1 | CTD_human |
Tgene | | C0085084 | Motor Neuron Disease | 1 | CTD_human |
Tgene | | C0086543 | Cataract | 1 | CTD_human |
Tgene | | C0154681 | Anterior Horn Cell Disease | 1 | CTD_human |
Tgene | | C0154682 | Lateral Sclerosis | 1 | CTD_human |
Tgene | | C0270715 | Degenerative Diseases, Central Nervous System | 1 | CTD_human |
Tgene | | C0270763 | Familial Motor Neuron Disease | 1 | CTD_human |
Tgene | | C0270764 | Motor Neuron Disease, Lower | 1 | CTD_human |
Tgene | | C0345967 | Malignant mesothelioma | 1 | CTD_human |
Tgene | | C0346990 | Carcinomatosis of peritoneal cavity | 1 | CTD_human |
Tgene | | C0521659 | Motor Neuron Disease, Upper | 1 | CTD_human |
Tgene | | C0524524 | Pseudoaphakia | 1 | CTD_human |
Tgene | | C0524851 | Neurodegenerative Disorders | 1 | CTD_human |
Tgene | | C0543858 | Motor Neuron Disease, Secondary | 1 | CTD_human |
Tgene | | C0751733 | Degenerative Diseases, Spinal Cord | 1 | CTD_human |
Tgene | | C0860207 | Drug-Induced Liver Disease | 1 | CTD_human |
Tgene | | C0948089 | Acute Coronary Syndrome | 1 | CTD_human |
Tgene | | C1262760 | Hepatitis, Drug-Induced | 1 | CTD_human |
Tgene | | C1510497 | Lens Opacities | 1 | CTD_human |
Tgene | | C1833118 | Cataract, Pulverulent | 1 | ORPHANET |
Tgene | | C1852438 | CATARACT, COPPOCK-LIKE | 1 | ORPHANET |
Tgene | | C1862939 | AMYOTROPHIC LATERAL SCLEROSIS 1 | 1 | CTD_human |
Tgene | | C1862941 | Amyotrophic Lateral Sclerosis, Sporadic | 1 | CTD_human |
Tgene | | C3658290 | Drug-Induced Acute Liver Injury | 1 | CTD_human |
Tgene | | C4277682 | Chemical and Drug Induced Liver Injury | 1 | CTD_human |
Tgene | | C4279912 | Chemically-Induced Liver Toxicity | 1 | CTD_human |
Tgene | | C4551993 | Amyotrophic Lateral Sclerosis, Familial | 1 | CTD_human |