Fusion gene information | Fusion gene name: SYN2-ACTG1 |
Fusion gene ID: hg6854tg71 | | Hgene | Tgene | Gene symbol | SYN2 | ACTG1 | Gene ID | 6854 | 71 | Gene name | synapsin II | actin gamma 1 |
Synonyms | SYNII | ACT|ACTG|DFNA20|DFNA26|HEL-176 |
Cytomap | ('SYN2')('ACTG1') 3p25.2 | 17q25.3 |
Type of gene | protein-coding | protein-coding |
Description | synapsin-2 | actin, cytoplasmic 2cytoskeletal gamma-actinepididymis luminal protein 176 |
Modification date | 20200313 | 20200327 |
UniProtAcc | . | P63261 |
Ensembl transtripts involved in fusion gene | ENST00000432424, | |
Fusion gene scores | * DoF score | 3 X 3 X 4=36 | 40 X 34 X 12=16320 |
# samples | 5 | 47 |
** MAII score | log2(5/36*10)=0.473931188332412 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). 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: SYN2 [Title/Abstract] AND ACTG1 [Title/Abstract] AND fusion [Title/Abstract] |
Most frequent breakpoint | SYN2(12113491)-ACTG1(79477008), # samples:1 SYN2(12113491)-ACTG1(79477014), # 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 | SYN2 | C0020429 | Hyperalgesia | 1 | CTD_human |
Hgene | SYN2 | C0022333 | Jacksonian Seizure | 1 | CTD_human |
Hgene | SYN2 | C0036572 | Seizures | 1 | CTD_human |
Hgene | SYN2 | C0149958 | Complex partial seizures | 1 | CTD_human |
Hgene | SYN2 | C0234533 | Generalized seizures | 1 | CTD_human |
Hgene | SYN2 | C0234535 | Clonic Seizures | 1 | CTD_human |
Hgene | SYN2 | C0270824 | Visual seizure | 1 | CTD_human |
Hgene | SYN2 | C0270844 | Tonic Seizures | 1 | CTD_human |
Hgene | SYN2 | C0270846 | Epileptic drop attack | 1 | CTD_human |
Hgene | SYN2 | C0422850 | Seizures, Somatosensory | 1 | CTD_human |
Hgene | SYN2 | C0422852 | Seizures, Auditory | 1 | CTD_human |
Hgene | SYN2 | C0422853 | Olfactory seizure | 1 | CTD_human |
Hgene | SYN2 | C0422854 | Gustatory seizure | 1 | CTD_human |
Hgene | SYN2 | C0422855 | Vertiginous seizure | 1 | CTD_human |
Hgene | SYN2 | C0458247 | Allodynia | 1 | CTD_human |
Hgene | SYN2 | C0494475 | Tonic - clonic seizures | 1 | CTD_human |
Hgene | SYN2 | C0751056 | Non-epileptic convulsion | 1 | CTD_human |
Hgene | SYN2 | C0751110 | Single Seizure | 1 | CTD_human |
Hgene | SYN2 | C0751123 | Atonic Absence Seizures | 1 | CTD_human |
Hgene | SYN2 | C0751211 | Hyperalgesia, Primary | 1 | CTD_human |
Hgene | SYN2 | C0751212 | Hyperalgesia, Secondary | 1 | CTD_human |
Hgene | SYN2 | C0751213 | Tactile Allodynia | 1 | CTD_human |
Hgene | SYN2 | C0751214 | Hyperalgesia, Thermal | 1 | CTD_human |
Hgene | SYN2 | C0751494 | Convulsive Seizures | 1 | CTD_human |
Hgene | SYN2 | C0751495 | Seizures, Focal | 1 | CTD_human |
Hgene | SYN2 | C0751496 | Seizures, Sensory | 1 | CTD_human |
Hgene | SYN2 | C2936719 | Mechanical Allodynia | 1 | CTD_human |
Hgene | SYN2 | C3495874 | Nonepileptic Seizures | 1 | CTD_human |
Hgene | SYN2 | C4048158 | Convulsions | 1 | CTD_human |
Hgene | SYN2 | C4316903 | Absence Seizures | 1 | CTD_human |
Hgene | SYN2 | C4317109 | Epileptic Seizures | 1 | CTD_human |
Hgene | SYN2 | C4317123 | Myoclonic Seizures | 1 | CTD_human |
Hgene | SYN2 | C4505436 | Generalized Absence Seizures | 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 |