Fusion gene information | Fusion gene name: ACTG1-COL5A1 |
Fusion gene ID: hg71tg1289 | | Hgene | Tgene | Gene symbol | ACTG1 | COL5A1 | Gene ID | 71 | 1289 | Gene name | actin gamma 1 | collagen type V alpha 1 chain |
Synonyms | ACT|ACTG|DFNA20|DFNA26|HEL-176 | EDSC|EDSCL1 |
Cytomap | ('ACTG1')('COL5A1') 17q25.3 | 9q34.3 |
Type of gene | protein-coding | protein-coding |
Description | actin, cytoplasmic 2cytoskeletal gamma-actinepididymis luminal protein 176 | collagen alpha-1(V) chaincollagen, type V, alpha 1 |
Modification date | 20200327 | 20200313 |
UniProtAcc | P63261 | P20908 |
Ensembl transtripts involved in fusion gene | ENST00000331925, ENST00000573283, ENST00000575087, ENST00000575842,
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Fusion gene scores | * DoF score | 51 X 36 X 13=23868 | 10 X 10 X 7=700 |
# samples | 58 | 12 |
** MAII score | log2(58/23868*10)=-5.36288097153997 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(12/700*10)=-2.54432051622381 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 |
Context | PubMed: ACTG1 [Title/Abstract] AND COL5A1 [Title/Abstract] AND fusion [Title/Abstract] |
Most frequent breakpoint | ACTG1(79477326)-COL5A1(137736335), # samples:1
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Anticipated loss of major functional domain due to fusion event. | |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | ACTG1 | C3711374 | Nonsyndromic Deafness | 18 | CLINGEN |
Hgene | ACTG1 | C1858172 | Deafness, Autosomal Dominant 20 | 8 | CTD_human;GENOMICS_ENGLAND;UNIPROT |
Hgene | ACTG1 | C3281235 | BARAITSER-WINTER SYNDROME 2 | 4 | CLINGEN;CTD_human;GENOMICS_ENGLAND;UNIPROT |
Hgene | ACTG1 | C0001787 | Osteoporosis, Age-Related | 1 | CTD_human |
Hgene | ACTG1 | C0005745 | Blepharoptosis | 1 | GENOMICS_ENGLAND |
Hgene | ACTG1 | C0007097 | Carcinoma | 1 | CTD_human |
Hgene | ACTG1 | C0007621 | Neoplastic Cell Transformation | 1 | CTD_human |
Hgene | ACTG1 | C0009363 | Congenital ocular coloboma (disorder) | 1 | CTD_human |
Hgene | ACTG1 | C0014544 | Epilepsy | 1 | GENOMICS_ENGLAND |
Hgene | ACTG1 | C0024433 | Macrostomia | 1 | GENOMICS_ENGLAND |
Hgene | ACTG1 | C0024667 | Animal Mammary Neoplasms | 1 | CTD_human |
Hgene | ACTG1 | C0024668 | Mammary Neoplasms, Experimental | 1 | CTD_human |
Hgene | ACTG1 | C0029456 | Osteoporosis | 1 | CTD_human |
Hgene | ACTG1 | C0029459 | Osteoporosis, Senile | 1 | CTD_human |
Hgene | ACTG1 | C0033377 | Ptosis | 1 | GENOMICS_ENGLAND |
Hgene | ACTG1 | C0205696 | Anaplastic carcinoma | 1 | CTD_human |
Hgene | ACTG1 | C0205697 | Carcinoma, Spindle-Cell | 1 | CTD_human |
Hgene | ACTG1 | C0205698 | Undifferentiated carcinoma | 1 | CTD_human |
Hgene | ACTG1 | C0205699 | Carcinomatosis | 1 | CTD_human |
Hgene | ACTG1 | C0240583 | Short upturned nose | 1 | GENOMICS_ENGLAND |
Hgene | ACTG1 | C0265541 | Cranioschisis | 1 | CTD_human |
Hgene | ACTG1 | C0266551 | Congenital coloboma of iris | 1 | ORPHANET |
Hgene | ACTG1 | C0376634 | Craniofacial Abnormalities | 1 | CTD_human |
Hgene | ACTG1 | C0497552 | Congenital neurologic anomalies | 1 | CTD_human |
Hgene | ACTG1 | C0751406 | Post-Traumatic Osteoporosis | 1 | CTD_human |
Hgene | ACTG1 | C0857379 | Abnormality of the pinna | 1 | GENOMICS_ENGLAND |
Hgene | ACTG1 | C0948089 | Acute Coronary Syndrome | 1 | CTD_human |
Hgene | ACTG1 | C1257925 | Mammary Carcinoma, Animal | 1 | CTD_human |
Hgene | ACTG1 | C1384666 | hearing impairment | 1 | GENOMICS_ENGLAND |
Hgene | ACTG1 | C1843156 | Progressive sensorineural hearing impairment | 1 | GENOMICS_ENGLAND |
Hgene | ACTG1 | C1844505 | Pointed chin | 1 | GENOMICS_ENGLAND |
Hgene | ACTG1 | C1849340 | Long palpebral fissure | 1 | GENOMICS_ENGLAND |
Hgene | ACTG1 | C1855722 | Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation | 1 | ORPHANET |
Hgene | ACTG1 | C1865014 | Long philtrum | 1 | GENOMICS_ENGLAND |
Hgene | ACTG1 | C1865017 | Thin upper lip vermilion | 1 | GENOMICS_ENGLAND |
Hgene | ACTG1 | C1868571 | Highly arched eyebrow | 1 | GENOMICS_ENGLAND |
Hgene | ACTG1 | C1970280 | Hearing loss begins with loss of high frequencies | 1 | GENOMICS_ENGLAND |
Hgene | ACTG1 | C1970281 | Audiogram shows sloping configuration | 1 | GENOMICS_ENGLAND |
Hgene | ACTG1 | C1970282 | Deafness, profound, by 6th decade | 1 | GENOMICS_ENGLAND |
Hgene | ACTG1 | C3279369 | Microphthalmia (in some patients) | 1 | GENOMICS_ENGLAND |
Hgene | ACTG1 | C3549665 | Deafness (in some patients) | 1 | GENOMICS_ENGLAND |
Hgene | ACTG1 | C3808883 | Short neck (in some patients) | 1 | GENOMICS_ENGLAND |
Hgene | ACTG1 | C4012410 | Enlarged ventricles (in some patients) | 1 | GENOMICS_ENGLAND |
Hgene | ACTG1 | C4229649 | Heart defect (in some patients) | 1 | GENOMICS_ENGLAND |
Hgene | ACTG1 | C4229650 | Pterygium colli (in some patients) | 1 | GENOMICS_ENGLAND |
Hgene | ACTG1 | C4229651 | Hypertelorism/telecanthus | 1 | GENOMICS_ENGLAND |
Hgene | ACTG1 | C4229652 | Eye coloboma (in some patients) | 1 | GENOMICS_ENGLAND |
Hgene | ACTG1 | C4229653 | Trigonocephaly/metopic ridge | 1 | GENOMICS_ENGLAND |
Hgene | ACTG1 | C4231117 | Pectus (in some patients) | 1 | GENOMICS_ENGLAND |
Hgene | ACTG1 | C4231118 | Kyphosis/scoliosis (in some patients) | 1 | GENOMICS_ENGLAND |
Hgene | ACTG1 | C4231120 | Prominent nasal root on profile | 1 | GENOMICS_ENGLAND |
Hgene | ACTG1 | C4231121 | Large, squared nose tip | 1 | GENOMICS_ENGLAND |
Hgene | ACTG1 | C4231123 | Retrognathia (in some patients) | 1 | GENOMICS_ENGLAND |
Hgene | ACTG1 | C4231124 | Prominent/full/wide cheeks | 1 | GENOMICS_ENGLAND |
Hgene | ACTG1 | C4554007 | Uveoretinal Coloboma | 1 | CTD_human |
Hgene | ACTG1 | C4708599 | Coloboma of choroid and retina | 1 | ORPHANET |
Tgene | | C4552122 | EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 | 7 | GENOMICS_ENGLAND;UNIPROT |
Tgene | | C0268335 | Ehlers-Danlos syndrome type 1 | 3 | CTD_human;GENOMICS_ENGLAND |
Tgene | | C0220679 | Ehlers-Danlos Syndrome, Autosomal Dominant, Type Unspecified | 2 | ORPHANET |
Tgene | | C0268336 | Ehlers-Danlos syndrome type 2 | 2 | CTD_human;GENOMICS_ENGLAND |
Tgene | | C0000786 | Spontaneous abortion | 1 | CTD_human |
Tgene | | C0000822 | Abortion, Tubal | 1 | CTD_human |
Tgene | | C0005779 | Blood Coagulation Disorders | 1 | GENOMICS_ENGLAND |
Tgene | | C0007097 | Carcinoma | 1 | CTD_human |
Tgene | | C0022548 | Keloid | 1 | CTD_human |
Tgene | | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
Tgene | | C0024667 | Animal Mammary Neoplasms | 1 | CTD_human |
Tgene | | C0024668 | Mammary Neoplasms, Experimental | 1 | CTD_human |
Tgene | | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
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 | | C0376358 | Malignant neoplasm of prostate | 1 | CTD_human |
Tgene | | C1257925 | Mammary Carcinoma, Animal | 1 | CTD_human |
Tgene | | C1458140 | Bleeding tendency | 1 | GENOMICS_ENGLAND |
Tgene | | C1846545 | Autoimmune Lymphoproliferative Syndrome Type 2B | 1 | GENOMICS_ENGLAND |
Tgene | | C3830362 | Early Pregnancy Loss | 1 | CTD_human |
Tgene | | C4225429 | Ehlers-Danlos syndrome classic type | 1 | GENOMICS_ENGLAND |
Tgene | | C4552766 | Miscarriage | 1 | CTD_human |