Fusion gene information | Fusion gene name: CAPNS1-TPI1 |
Fusion gene ID: hg826tg7167 | | Hgene | Tgene | Gene symbol | CAPNS1 | TPI1 | Gene ID | 826 | 7167 | Gene name | calpain small subunit 1 | triosephosphate isomerase 1 |
Synonyms | CALPAIN4|CANP|CANPS|CAPN4|CDPS|CSS1 | HEL-S-49|TIM|TPI|TPID |
Cytomap | ('CAPNS1')('TPI1') 19q13.12 | 12p13.31 |
Type of gene | protein-coding | protein-coding |
Description | calpain small subunit 1CANP small subunitcalcium-activated neutral proteinase small subunitcalcium-dependent protease small subunit 1calcium-dependent protease, small subunitcalpain 4, small subunit (30K)calpain regulatory subunitcalpain, small pol | triosephosphate isomeraseepididymis secretory protein Li 49methylglyoxal synthasetriose-phosphate isomerase |
Modification date | 20200313 | 20200313 |
UniProtAcc | . | . |
Ensembl transtripts involved in fusion gene | ENST00000246533, ENST00000587718, ENST00000588815, ENST00000588780, ENST00000589146, ENST00000590874,
| |
Fusion gene scores | * DoF score | 29 X 25 X 9=6525 | 7 X 7 X 3=147 |
# samples | 31 | 7 |
** MAII score | log2(31/6525*10)=-4.39563778107037 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(7/147*10)=-1.0703893278914 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 |
Context | PubMed: CAPNS1 [Title/Abstract] AND TPI1 [Title/Abstract] AND fusion [Title/Abstract] |
Most frequent breakpoint | CAPNS1(36641020)-TPI1(6979864), # 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 | CAPNS1 | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
Hgene | CAPNS1 | C0376358 | Malignant neoplasm of prostate | 1 | CTD_human |
Tgene | | C1860808 | Triosephosphate Isomerase Deficiency | 6 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
Tgene | | C0025521 | Inborn Errors of Metabolism | 2 | CTD_human |
Tgene | | C0520572 | Enzymopathy | 2 | GENOMICS_ENGLAND |
Tgene | | C0752251 | Muscle Disease Manifestations | 2 | CTD_human |
Tgene | | C0752252 | Neuromuscular Manifestations | 2 | CTD_human |
Tgene | | C0001787 | Osteoporosis, Age-Related | 1 | CTD_human |
Tgene | | C0002395 | Alzheimer's Disease | 1 | CTD_human |
Tgene | | C0002735 | Oppenheim's Disease | 1 | CTD_human |
Tgene | | C0002878 | Anemia, Hemolytic | 1 | CTD_human |
Tgene | | C0002879 | Anemia, Hemolytic, Acquired | 1 | CTD_human |
Tgene | | C0002882 | Anemia, Hemolytic, Congenital Nonspherocytic | 1 | CTD_human |
Tgene | | C0002889 | Anemia, Microangiopathic | 1 | CTD_human |
Tgene | | C0007137 | Squamous cell carcinoma | 1 | CTD_human |
Tgene | | C0011265 | Presenile dementia | 1 | CTD_human |
Tgene | | C0026640 | Mouth Neoplasms | 1 | CTD_human |
Tgene | | C0027868 | Neuromuscular Diseases | 1 | CTD_human |
Tgene | | C0029456 | Osteoporosis | 1 | CTD_human |
Tgene | | C0029459 | Osteoporosis, Senile | 1 | CTD_human |
Tgene | | C0036341 | Schizophrenia | 1 | PSYGENET |
Tgene | | C0152013 | Adenocarcinoma of lung (disorder) | 1 | CTD_human |
Tgene | | C0153381 | Malignant neoplasm of mouth | 1 | CTD_human |
Tgene | | C0221021 | Microangiopathic hemolytic anemia | 1 | CTD_human |
Tgene | | C0276496 | Familial Alzheimer Disease (FAD) | 1 | CTD_human |
Tgene | | C0279626 | Squamous cell carcinoma of esophagus | 1 | CTD_human |
Tgene | | C0494463 | Alzheimer Disease, Late Onset | 1 | CTD_human |
Tgene | | C0546126 | Acute Confusional Senile Dementia | 1 | CTD_human |
Tgene | | C0750900 | Alzheimer's Disease, Focal Onset | 1 | CTD_human |
Tgene | | C0750901 | Alzheimer Disease, Early Onset | 1 | CTD_human |
Tgene | | C0751381 | Foley-Denny-Brown Syndrome | 1 | CTD_human |
Tgene | | C0751406 | Post-Traumatic Osteoporosis | 1 | CTD_human |
Tgene | | C0857501 | Acute schizophrenia | 1 | PSYGENET |