Fusion gene information | Fusion gene name: ABCC9-SRRM2 |
Fusion gene ID: hg10060tg23524 | | Hgene | Tgene | Gene symbol | ABCC9 | SRRM2 | Gene ID | 10060 | 23524 | Gene name | ATP binding cassette subfamily C member 9 | serine/arginine repetitive matrix 2 |
Synonyms | ABC37|ATFB12|CANTU|CMD1O|SUR2 | 300-KD|CWF21|Cwc21|HSPC075|SRL300|SRm300 |
Cytomap | ('ABCC9')('SRRM2') 12p12.1 | 16p13.3 |
Type of gene | protein-coding | protein-coding |
Description | ATP-binding cassette sub-family C member 9ATP-binding cassette transporter sub-family C member 9ATP-binding cassette, sub-family C (CFTR/MRP), member 9sulfonylurea receptor 2 | serine/arginine repetitive matrix protein 2300 kDa nuclear matrix antigenRNA binding proteinSR-related nuclear matrix protein of 300 kDaser/Arg-related nuclear matrix protein of 300 kDaserine/arginine-rich splicing factor-related nuclear matrix prote |
Modification date | 20200313 | 20200313 |
UniProtAcc | . | . |
Ensembl transtripts involved in fusion gene | ENST00000261200, ENST00000261201, ENST00000326684, ENST00000345162, ENST00000538350, | |
Fusion gene scores | * DoF score | 3 X 4 X 3=36 | 20 X 27 X 9=4860 |
# samples | 4 | 28 |
** MAII score | log2(4/36*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(28/4860*10)=-4.11745758154818 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 |
Context | PubMed: ABCC9 [Title/Abstract] AND SRRM2 [Title/Abstract] AND fusion [Title/Abstract] |
Most frequent breakpoint | ABCC9(21994418)-SRRM2(2801250), # 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 | ABCC9 | C0795905 | Cantu syndrome | 7 | CLINGEN;CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
Hgene | ABCC9 | C3279695 | ATRIAL FIBRILLATION, FAMILIAL, 12 | 5 | CTD_human;GENOMICS_ENGLAND;UNIPROT |
Hgene | ABCC9 | C1837839 | CARDIOMYOPATHY, DILATED, 1O | 4 | CTD_human;GENOMICS_ENGLAND;UNIPROT |
Hgene | ABCC9 | C0004238 | Atrial Fibrillation | 1 | GENOMICS_ENGLAND |
Hgene | ABCC9 | C0007193 | Cardiomyopathy, Dilated | 1 | GENOMICS_ENGLAND |
Hgene | ABCC9 | C0014170 | Endometrial Neoplasms | 1 | CTD_human |
Hgene | ABCC9 | C0014175 | Endometriosis | 1 | CTD_human |
Hgene | ABCC9 | C0042514 | Tachycardia, Ventricular | 1 | GENOMICS_ENGLAND |
Hgene | ABCC9 | C0086132 | Depressive Symptoms | 1 | PSYGENET |
Hgene | ABCC9 | C0151879 | Shortened QT interval | 1 | GENOMICS_ENGLAND |
Hgene | ABCC9 | C0269102 | Endometrioma | 1 | CTD_human |
Hgene | ABCC9 | C0340427 | Familial dilated cardiomyopathy | 1 | ORPHANET |
Hgene | ABCC9 | C0476089 | Endometrial Carcinoma | 1 | CTD_human |
Hgene | ABCC9 | C0796280 | Acromegaloid facial appearance syndrome | 1 | ORPHANET |
Hgene | ABCC9 | C1142166 | Brugada Syndrome (disorder) | 1 | GENOMICS_ENGLAND;ORPHANET |
Hgene | ABCC9 | C1843687 | ATRIAL FIBRILLATION, FAMILIAL, 1 (disorder) | 1 | ORPHANET |