Fusion gene information | Fusion gene name: SETDB1-ACTG1 |
Fusion gene ID: hg9869tg71 | | Hgene | Tgene | Gene symbol | SETDB1 | ACTG1 | Gene ID | 9869 | 71 | Gene name | SET domain bifurcated histone lysine methyltransferase 1 | actin gamma 1 |
Synonyms | ESET|H3-K9-HMTase4|KG1T|KMT1E|TDRD21 | ACT|ACTG|DFNA20|DFNA26|HEL-176 |
Cytomap | ('SETDB1')('ACTG1') 1q21.3 | 17q25.3 |
Type of gene | protein-coding | protein-coding |
Description | histone-lysine N-methyltransferase SETDB1ERG-associated protein with a SET domain, ESETSET domain bifurcated 1histone H3-K9 methyltransferase 4histone-lysine N-methyltransferase, H3lysine-9 specific 4lysine N-methyltransferase 1Etudor domain contain | actin, cytoplasmic 2cytoskeletal gamma-actinepididymis luminal protein 176 |
Modification date | 20200313 | 20200327 |
UniProtAcc | . | P63261 |
Ensembl transtripts involved in fusion gene | ENST00000271640, ENST00000368969, ENST00000368962, ENST00000368963, ENST00000459773, | |
Fusion gene scores | * DoF score | 8 X 7 X 6=336 | 40 X 34 X 12=16320 |
# samples | 8 | 47 |
** MAII score | log2(8/336*10)=-2.0703893278914 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(47/16320*10)=-5.11783649029386 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 |
Context | PubMed: SETDB1 [Title/Abstract] AND ACTG1 [Title/Abstract] AND fusion [Title/Abstract] |
Most frequent breakpoint | SETDB1(150935592)-ACTG1(79477861), # samples:1
|
Anticipated loss of major functional domain due to fusion event. | SETDB1-ACTG1 seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF. SETDB1-ACTG1 seems lost the major protein functional domain in Hgene partner, which is a epigenetic factor due to the frame-shifted ORF. SETDB1-ACTG1 seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF. SETDB1-ACTG1 seems lost the major protein functional domain in Hgene partner, which is a transcription factor due to the frame-shifted ORF. SETDB1-ACTG1 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF.
|
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | SETDB1 | C0025202 | melanoma | 1 | CTD_human |
Hgene | SETDB1 | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
Hgene | SETDB1 | C0036341 | Schizophrenia | 1 | PSYGENET |
Hgene | SETDB1 | C0178417 | Anhedonia | 1 | PSYGENET |
Hgene | SETDB1 | C0345967 | Malignant mesothelioma | 1 | CTD_human |
Hgene | SETDB1 | C0376358 | Malignant neoplasm of prostate | 1 | CTD_human |
Tgene | | C3711374 | Nonsyndromic Deafness | 18 | CLINGEN |
Tgene | | C1858172 | Deafness, Autosomal Dominant 20 | 8 | CTD_human;GENOMICS_ENGLAND;UNIPROT |
Tgene | | C3281235 | BARAITSER-WINTER SYNDROME 2 | 4 | CLINGEN;CTD_human;GENOMICS_ENGLAND;UNIPROT |
Tgene | | C0001787 | Osteoporosis, Age-Related | 1 | CTD_human |
Tgene | | C0005745 | Blepharoptosis | 1 | GENOMICS_ENGLAND |
Tgene | | C0007097 | Carcinoma | 1 | CTD_human |
Tgene | | C0007621 | Neoplastic Cell Transformation | 1 | CTD_human |
Tgene | | C0009363 | Congenital ocular coloboma (disorder) | 1 | CTD_human |
Tgene | | C0014544 | Epilepsy | 1 | GENOMICS_ENGLAND |
Tgene | | C0024433 | Macrostomia | 1 | GENOMICS_ENGLAND |
Tgene | | C0024667 | Animal Mammary Neoplasms | 1 | CTD_human |
Tgene | | C0024668 | Mammary Neoplasms, Experimental | 1 | CTD_human |
Tgene | | C0029456 | Osteoporosis | 1 | CTD_human |
Tgene | | C0029459 | Osteoporosis, Senile | 1 | CTD_human |
Tgene | | C0033377 | Ptosis | 1 | GENOMICS_ENGLAND |
Tgene | | C0205696 | Anaplastic carcinoma | 1 | CTD_human |
Tgene | | C0205697 | Carcinoma, Spindle-Cell | 1 | CTD_human |
Tgene | | C0205698 | Undifferentiated carcinoma | 1 | CTD_human |
Tgene | | C0205699 | Carcinomatosis | 1 | CTD_human |
Tgene | | C0240583 | Short upturned nose | 1 | GENOMICS_ENGLAND |
Tgene | | C0265541 | Cranioschisis | 1 | CTD_human |
Tgene | | C0266551 | Congenital coloboma of iris | 1 | ORPHANET |
Tgene | | C0376634 | Craniofacial Abnormalities | 1 | CTD_human |
Tgene | | C0497552 | Congenital neurologic anomalies | 1 | CTD_human |
Tgene | | C0751406 | Post-Traumatic Osteoporosis | 1 | CTD_human |
Tgene | | C0857379 | Abnormality of the pinna | 1 | GENOMICS_ENGLAND |
Tgene | | C0948089 | Acute Coronary Syndrome | 1 | CTD_human |
Tgene | | C1257925 | Mammary Carcinoma, Animal | 1 | CTD_human |
Tgene | | C1384666 | hearing impairment | 1 | GENOMICS_ENGLAND |
Tgene | | C1843156 | Progressive sensorineural hearing impairment | 1 | GENOMICS_ENGLAND |
Tgene | | C1844505 | Pointed chin | 1 | GENOMICS_ENGLAND |
Tgene | | C1849340 | Long palpebral fissure | 1 | GENOMICS_ENGLAND |
Tgene | | C1855722 | Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation | 1 | ORPHANET |
Tgene | | C1865014 | Long philtrum | 1 | GENOMICS_ENGLAND |
Tgene | | C1865017 | Thin upper lip vermilion | 1 | GENOMICS_ENGLAND |
Tgene | | C1868571 | Highly arched eyebrow | 1 | GENOMICS_ENGLAND |
Tgene | | C1970280 | Hearing loss begins with loss of high frequencies | 1 | GENOMICS_ENGLAND |
Tgene | | C1970281 | Audiogram shows sloping configuration | 1 | GENOMICS_ENGLAND |
Tgene | | C1970282 | Deafness, profound, by 6th decade | 1 | GENOMICS_ENGLAND |
Tgene | | C3279369 | Microphthalmia (in some patients) | 1 | GENOMICS_ENGLAND |
Tgene | | C3549665 | Deafness (in some patients) | 1 | GENOMICS_ENGLAND |
Tgene | | C3808883 | Short neck (in some patients) | 1 | GENOMICS_ENGLAND |
Tgene | | C4012410 | Enlarged ventricles (in some patients) | 1 | GENOMICS_ENGLAND |
Tgene | | C4229649 | Heart defect (in some patients) | 1 | GENOMICS_ENGLAND |
Tgene | | C4229650 | Pterygium colli (in some patients) | 1 | GENOMICS_ENGLAND |
Tgene | | C4229651 | Hypertelorism/telecanthus | 1 | GENOMICS_ENGLAND |
Tgene | | C4229652 | Eye coloboma (in some patients) | 1 | GENOMICS_ENGLAND |
Tgene | | C4229653 | Trigonocephaly/metopic ridge | 1 | GENOMICS_ENGLAND |
Tgene | | C4231117 | Pectus (in some patients) | 1 | GENOMICS_ENGLAND |
Tgene | | C4231118 | Kyphosis/scoliosis (in some patients) | 1 | GENOMICS_ENGLAND |
Tgene | | C4231120 | Prominent nasal root on profile | 1 | GENOMICS_ENGLAND |
Tgene | | C4231121 | Large, squared nose tip | 1 | GENOMICS_ENGLAND |
Tgene | | C4231123 | Retrognathia (in some patients) | 1 | GENOMICS_ENGLAND |
Tgene | | C4231124 | Prominent/full/wide cheeks | 1 | GENOMICS_ENGLAND |
Tgene | | C4554007 | Uveoretinal Coloboma | 1 | CTD_human |
Tgene | | C4708599 | Coloboma of choroid and retina | 1 | ORPHANET |