Fusion gene information | Fusion gene name: ARVCF-COMT |
Fusion gene ID: hg421tg1312 | | Hgene | Tgene | Gene symbol | ARVCF | COMT | Gene ID | 421 | 1312 | Gene name | ARVCF delta catenin family member | catechol-O-methyltransferase |
Synonyms | - | HEL-S-98n |
Cytomap | ('ARVCF')('COMT') 22q11.21 | 22q11.21 |
Type of gene | protein-coding | protein-coding |
Description | armadillo repeat protein deleted in velo-cardio-facial syndromearmadillo repeat gene deleted in velocardiofacial syndrome | catechol O-methyltransferasecatechol-O-methyltransferase isoformepididymis secretory sperm binding protein Li 98ntesticular tissue protein Li 42 |
Modification date | 20200320 | 20200329 |
UniProtAcc | O00192 | P21964 |
Ensembl transtripts involved in fusion gene | ENST00000263207, ENST00000344269, ENST00000401994, ENST00000406259, ENST00000406522, ENST00000487793,
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Fusion gene scores | * DoF score | 6 X 6 X 2=72 | 6 X 12 X 4=288 |
# samples | 10 | 14 |
** MAII score | log2(10/72*10)=0.473931188332412 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(14/288*10)=-1.04064198449735 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 |
Context | PubMed: ARVCF [Title/Abstract] AND COMT [Title/Abstract] AND fusion [Title/Abstract] Haplotypic association spanning the 22q11.21 genes COMT and ARVCF with schizophrenia (pmid: 15340358)
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Most frequent breakpoint | ARVCF(19956059)-COMT(19956269), # samples:4
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Anticipated loss of major functional domain due to fusion event. | |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | ARVCF | C0036341 | Schizophrenia | 4 | PSYGENET |
Hgene | ARVCF | C0809983 | Schizophrenia and related disorders | 1 | PSYGENET |
Hgene | ARVCF | C3888239 | HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1 | 1 | GENOMICS_ENGLAND |
Tgene | | C0005586 | Bipolar Disorder | 6 | CTD_human;PSYGENET |
Tgene | | C0001723 | Affective Disorders, Psychotic | 5 | PSYGENET |
Tgene | | C0011570 | Mental Depression | 5 | PSYGENET |
Tgene | | C0011581 | Depressive disorder | 5 | PSYGENET |
Tgene | | C0041696 | Unipolar Depression | 5 | PSYGENET |
Tgene | | C0525045 | Mood Disorders | 5 | PSYGENET |
Tgene | | C1269683 | Major Depressive Disorder | 5 | PSYGENET |
Tgene | | C0036341 | Schizophrenia | 4 | CTD_human |
Tgene | | C0005587 | Depression, Bipolar | 3 | CTD_human;PSYGENET |
Tgene | | C0006142 | Malignant neoplasm of breast | 3 | CTD_human |
Tgene | | C0024809 | Marijuana Abuse | 3 | PSYGENET |
Tgene | | C0600427 | Cocaine Dependence | 3 | CTD_human;PSYGENET |
Tgene | | C0678222 | Breast Carcinoma | 3 | CTD_human |
Tgene | | C1257931 | Mammary Neoplasms, Human | 3 | CTD_human |
Tgene | | C1458155 | Mammary Neoplasms | 3 | CTD_human |
Tgene | | C4704874 | Mammary Carcinoma, Human | 3 | CTD_human |
Tgene | | C0233477 | Dysphoric mood | 2 | PSYGENET |
Tgene | | C3160814 | Cannabis use | 2 | PSYGENET |
Tgene | | C0001956 | Alcohol Use Disorder | 1 | CTD_human |
Tgene | | C0001973 | Alcoholic Intoxication, Chronic | 1 | CTD_human |
Tgene | | C0004352 | Autistic Disorder | 1 | CTD_human |
Tgene | | C0004930 | Behavior Disorders | 1 | CTD_human |
Tgene | | C0004936 | Mental disorders | 1 | CTD_human |
Tgene | | C0009171 | Cocaine Abuse | 1 | CTD_human |
Tgene | | C0009241 | Cognition Disorders | 1 | CTD_human |
Tgene | | C0012236 | DiGeorge Syndrome | 1 | CTD_human;ORPHANET |
Tgene | | C0015934 | Fetal Growth Retardation | 1 | CTD_human |
Tgene | | C0020429 | Hyperalgesia | 1 | CTD_human |
Tgene | | C0024667 | Animal Mammary Neoplasms | 1 | CTD_human |
Tgene | | C0024713 | Manic Disorder | 1 | CTD_human |
Tgene | | C0025261 | Memory Disorders | 1 | CTD_human |
Tgene | | C0026858 | Musculoskeletal Pain | 1 | CTD_human |
Tgene | | C0030193 | Pain | 1 | CTD_human |
Tgene | | C0031511 | Pheochromocytoma | 1 | CTD_human |
Tgene | | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
Tgene | | C0039494 | Temporomandibular Joint Disorders | 1 | CTD_human |
Tgene | | C0041671 | Attention Deficit Disorder | 1 | CTD_human |
Tgene | | C0085762 | Alcohol abuse | 1 | CTD_human |
Tgene | | C0086133 | Depressive Syndrome | 1 | PSYGENET |
Tgene | | C0178417 | Anhedonia | 1 | PSYGENET |
Tgene | | C0220704 | Shprintzen syndrome | 1 | CTD_human;ORPHANET |
Tgene | | C0233794 | Memory impairment | 1 | CTD_human |
Tgene | | C0234230 | Pain, Burning | 1 | CTD_human |
Tgene | | C0234238 | Ache | 1 | CTD_human |
Tgene | | C0234254 | Radiating pain | 1 | CTD_human |
Tgene | | C0236733 | Amphetamine-Related Disorders | 1 | CTD_human |
Tgene | | C0236736 | Cocaine-Related Disorders | 1 | CTD_human |
Tgene | | C0236804 | Amphetamine Addiction | 1 | CTD_human |
Tgene | | C0236807 | Amphetamine Abuse | 1 | CTD_human |
Tgene | | C0338831 | Manic | 1 | CTD_human |
Tgene | | C0376338 | Diagnosis, Psychiatric | 1 | CTD_human |
Tgene | | C0376358 | Malignant neoplasm of prostate | 1 | CTD_human |
Tgene | | C0458247 | Allodynia | 1 | CTD_human |
Tgene | | C0458257 | Pain, Splitting | 1 | CTD_human |
Tgene | | C0458259 | Pain, Crushing | 1 | CTD_human |
Tgene | | C0525046 | Schizophrenia Spectrum and Other Psychotic Disorders | 1 | CTD_human |
Tgene | | C0751211 | Hyperalgesia, Primary | 1 | CTD_human |
Tgene | | C0751212 | Hyperalgesia, Secondary | 1 | CTD_human |
Tgene | | C0751213 | Tactile Allodynia | 1 | CTD_human |
Tgene | | C0751214 | Hyperalgesia, Thermal | 1 | CTD_human |
Tgene | | C0751292 | Age-Related Memory Disorders | 1 | CTD_human |
Tgene | | C0751293 | Memory Disorder, Semantic | 1 | CTD_human |
Tgene | | C0751294 | Memory Disorder, Spatial | 1 | CTD_human |
Tgene | | C0751295 | Memory Loss | 1 | CTD_human |
Tgene | | C0751407 | Pain, Migratory | 1 | CTD_human |
Tgene | | C0751408 | Suffering, Physical | 1 | CTD_human |
Tgene | | C0795907 | CONOTRUNCAL ANOMALY FACE SYNDROME | 1 | CTD_human;ORPHANET |
Tgene | | C1257877 | Pheochromocytoma, Extra-Adrenal | 1 | CTD_human |
Tgene | | C1257925 | Mammary Carcinoma, Animal | 1 | CTD_human |
Tgene | | C1263846 | Attention deficit hyperactivity disorder | 1 | CTD_human |
Tgene | | C1306067 | Drug-induced paranoid state | 1 | PSYGENET |
Tgene | | C1321905 | Minimal Brain Dysfunction | 1 | CTD_human |
Tgene | | C2239176 | Liver carcinoma | 1 | CTD_human |
Tgene | | C2750088 | HEARING LOSS, CISPLATIN-INDUCED, SUSCEPTIBILITY TO | 1 | CTD_human |
Tgene | | C2936719 | Mechanical Allodynia | 1 | CTD_human |
Tgene | | C3888239 | HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1 | 1 | GENOMICS_ENGLAND |
Tgene | | C4046029 | Mental Disorders, Severe | 1 | CTD_human |