Fusion gene information | Fusion gene name: BMPR2-CACUL1 |
Fusion gene ID: hg659tg143384 | | Hgene | Tgene | Gene symbol | BMPR2 | CACUL1 | Gene ID | 659 | 143384 | Gene name | bone morphogenetic protein receptor type 2 | CDK2 associated cullin domain 1 |
Synonyms | BMPR-II|BMPR3|BMR2|BRK-3|POVD1|PPH1|T-ALK | C10orf46|CAC1 |
Cytomap | ('BMPR2')('CACUL1') 2q33.1-q33.2 | 10q26.11 |
Type of gene | protein-coding | protein-coding |
Description | bone morphogenetic protein receptor type-2BMP type II receptorBMP type-2 receptorbone morphogenetic protein receptor type IIbone morphogenetic protein receptor, type II (serine/threonine kinase)type II activin receptor-like kinasetype II receptor fo | CDK2-associated and cullin domain-containing protein 1Cdk-Associated Cullin1cullin |
Modification date | 20200313 | 20200313 |
UniProtAcc | . | . |
Ensembl transtripts involved in fusion gene | ENST00000374574, ENST00000374580, ENST00000479069, | |
Fusion gene scores | * DoF score | 20 X 12 X 9=2160 | 6 X 8 X 3=144 |
# samples | 21 | 8 |
** MAII score | log2(21/2160*10)=-3.36257007938471 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(8/144*10)=-0.84799690655495 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 |
Context | PubMed: BMPR2 [Title/Abstract] AND CACUL1 [Title/Abstract] AND fusion [Title/Abstract] |
Most frequent breakpoint | BMPR2(203374153)-CACUL1(120513298), # samples:1
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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 | BMPR2 | C4552070 | Pulmonary Hypertension, Primary, 1 | 12 | CTD_human;GENOMICS_ENGLAND;UNIPROT |
Hgene | BMPR2 | C0020542 | Pulmonary Hypertension | 9 | CTD_human |
Hgene | BMPR2 | C0340543 | Familial primary pulmonary hypertension | 4 | CTD_human;GENOMICS_ENGLAND;ORPHANET |
Hgene | BMPR2 | C0034091 | Pulmonary Veno-Occlusive Disease (disorder) | 3 | CTD_human;GENOMICS_ENGLAND;ORPHANET |
Hgene | BMPR2 | C1701939 | Familial pulmonary arterial hypertension | 2 | ORPHANET |
Hgene | BMPR2 | C3203102 | Idiopathic pulmonary arterial hypertension | 2 | CTD_human;GENOMICS_ENGLAND |
Hgene | BMPR2 | C0006142 | Malignant neoplasm of breast | 1 | CTD_human |
Hgene | BMPR2 | C0152171 | Idiopathic pulmonary hypertension | 1 | GENOMICS_ENGLAND |
Hgene | BMPR2 | C0206081 | Hyperandrogenism | 1 | CTD_human |
Hgene | BMPR2 | C0340544 | Pulmonary arterial hypertension induced by drug | 1 | ORPHANET |
Hgene | BMPR2 | C0678222 | Breast Carcinoma | 1 | CTD_human |
Hgene | BMPR2 | C1150929 | 2-oxo-hept-3-ene-1,7-dioate hydratase activity | 1 | GENOMICS_ENGLAND |
Hgene | BMPR2 | C1257931 | Mammary Neoplasms, Human | 1 | CTD_human |
Hgene | BMPR2 | C1458155 | Mammary Neoplasms | 1 | CTD_human |
Hgene | BMPR2 | C1969342 | PULMONARY HYPERTENSION, PRIMARY, DEXFENFLURAMINE-ASSOCIATED | 1 | CTD_human |
Hgene | BMPR2 | C1969343 | Pulmonary Hypertension, Primary, Fenfluramine-Associated | 1 | CTD_human |
Hgene | BMPR2 | C2973725 | Pulmonary arterial hypertension | 1 | GENOMICS_ENGLAND |
Hgene | BMPR2 | C3714844 | Pulmonary Hypertension, Primary, 1, With Hereditary Hemorrhagic Telangiectasia | 1 | CTD_human |
Hgene | BMPR2 | C3887658 | PULMONARY VENOOCCLUSIVE DISEASE 1, AUTOSOMAL DOMINANT | 1 | GENOMICS_ENGLAND |
Hgene | BMPR2 | C4704874 | Mammary Carcinoma, Human | 1 | CTD_human |
Tgene | | C0009402 | Colorectal Carcinoma | 1 | CTD_human |
Tgene | | C0009404 | Colorectal Neoplasms | 1 | CTD_human |