Fusion gene information | Fusion gene name: ATIC-SCN9A |
Fusion gene ID: hg471tg6335 | | Hgene | Tgene | Gene symbol | ATIC | SCN9A | Gene ID | 471 | 6335 | Gene name | 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase | sodium voltage-gated channel alpha subunit 9 |
Synonyms | AICAR|AICARFT|HEL-S-70p|IMPCHASE|PURH | ETHA|FEB3B|GEFSP7|HSAN2D|NE-NA|NENA|Nav1.7|PN1|SFNP |
Cytomap | ('ATIC')('SCN9A') 2q35 | 2q24.3 |
Type of gene | protein-coding | protein-coding |
Description | bifunctional purine biosynthesis protein PURH5-aminoimidazole-4-carboxamide-1-beta-D-ribonucleotide transformylase/inosinicaseAICAR formyltransferase/IMP cyclohydrolase bifunctional enzymeAICARFT/IMPCHASEepididymis secretory sperm binding protein Li 7 | sodium channel protein type 9 subunit alphahNE-Naneuroendocrine sodium channelperipheral sodium channel 1sodium channel protein type IX subunit alphasodium channel, voltage-gated, type IX, alpha polypeptidesodium channel, voltage-gated, type IX, alp |
Modification date | 20200313 | 20200313 |
UniProtAcc | P31939 | . |
Ensembl transtripts involved in fusion gene | ENST00000236959, ENST00000435675, ENST00000540518, | |
Fusion gene scores | * DoF score | 9 X 9 X 4=324 | 5 X 4 X 4=80 |
# samples | 9 | 5 |
** MAII score | log2(9/324*10)=-1.84799690655495 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(5/80*10)=-0.678071905112638 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 |
Context | PubMed: ATIC [Title/Abstract] AND SCN9A [Title/Abstract] AND fusion [Title/Abstract] |
Most frequent breakpoint | ATIC(216214479)-SCN9A(167076420), # samples:1
|
Anticipated loss of major functional domain due to fusion event. | |
Hgene | Tgene |
ATIC
P31939 | . |
FUNCTION: Bifunctional enzyme that catalyzes the last two steps of purine biosynthesis (PubMed:11948179, PubMed:14756554). Acts as a transformylase that incorporates a formyl group to the AMP analog AICAR (5-amino-1-(5-phospho-beta-D-ribosyl)imidazole-4-carboxamide) to produce the intermediate formyl-AICAR (FAICAR) (PubMed:9378707, PubMed:11948179, PubMed:10985775). Can use both 10-formyldihydrofolate and 10-formyltetrahydrofolate as the formyl donor in this reaction (PubMed:10985775). Also catalyzes the cyclization of FAICAR to IMP (PubMed:11948179, PubMed:14756554). Is able to convert thio-AICAR to 6-mercaptopurine ribonucleotide, an inhibitor of purine biosynthesis used in the treatment of human leukemias (PubMed:10985775). Promotes insulin receptor/INSR autophosphorylation and is involved in INSR internalization (PubMed:25687571). {ECO:0000269|PubMed:10985775, ECO:0000269|PubMed:11948179, ECO:0000269|PubMed:14756554, ECO:0000269|PubMed:25687571, ECO:0000269|PubMed:9378707}. | 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 | ATIC | C0001787 | Osteoporosis, Age-Related | 1 | CTD_human |
Hgene | ATIC | C0003873 | Rheumatoid Arthritis | 1 | CTD_human |
Hgene | ATIC | C0013221 | Drug toxicity | 1 | CTD_human |
Hgene | ATIC | C0029456 | Osteoporosis | 1 | CTD_human |
Hgene | ATIC | C0029459 | Osteoporosis, Senile | 1 | CTD_human |
Hgene | ATIC | C0041755 | Adverse reaction to drug | 1 | CTD_human |
Hgene | ATIC | C0155003 | Blindness, Transient | 1 | CTD_human |
Hgene | ATIC | C0221473 | Blindness, Hysterical | 1 | CTD_human |
Hgene | ATIC | C0271215 | Blindness, Legal | 1 | CTD_human |
Hgene | ATIC | C0339730 | Blindness, Acquired | 1 | CTD_human |
Hgene | ATIC | C0376288 | Amaurosis | 1 | CTD_human |
Hgene | ATIC | C0456909 | Blindness | 1 | CTD_human |
Hgene | ATIC | C0750958 | Blindness, Monocular | 1 | CTD_human |
Hgene | ATIC | C0751406 | Post-Traumatic Osteoporosis | 1 | CTD_human |
Hgene | ATIC | C1837530 | AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency | 1 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
Hgene | ATIC | C1879328 | Blindness both eyes NOS (disorder) | 1 | CTD_human |
Hgene | ATIC | C3714756 | Intellectual Disability | 1 | GENOMICS_ENGLAND |
Tgene | | C0014805 | Primary Erythermalgia | 15 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
Tgene | | C0014544 | Epilepsy | 6 | CLINGEN |
Tgene | | C1833661 | PAROXYSMAL EXTREME PAIN DISORDER | 5 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
Tgene | | C0751122 | Infantile Severe Myoclonic Epilepsy | 4 | CTD_human;ORPHANET |
Tgene | | C1855739 | Indifference to Pain, Congenital, Autosomal Recessive | 4 | CTD_human;GENOMICS_ENGLAND;UNIPROT |
Tgene | | C0014804 | Erythromelalgia | 3 | CTD_human |
Tgene | | C2751778 | Generalized Epilepsy With Febrile Seizures Plus, 7 | 3 | CTD_human;GENOMICS_ENGLAND;UNIPROT |
Tgene | | C0002768 | Congenital Pain Insensitivity | 2 | GENOMICS_ENGLAND;ORPHANET |
Tgene | | C0019372 | Herpesviridae Infections | 1 | CTD_human |
Tgene | | C0020072 | Hereditary Sensory Autonomic Neuropathy, Type 2 | 1 | ORPHANET |
Tgene | | C0020075 | Hereditary Sensory Autonomic Neuropathy, Type 5 | 1 | ORPHANET |
Tgene | | C0027796 | Neuralgia | 1 | CTD_human |
Tgene | | C0032768 | Postherpetic neuralgia | 1 | CTD_human |
Tgene | | C0033774 | Pruritus | 1 | CTD_human |
Tgene | | C0037140 | B Virus Infection | 1 | CTD_human |
Tgene | | C0038870 | Neuralgia, Supraorbital | 1 | CTD_human |
Tgene | | C0042656 | Neuralgia, Vidian | 1 | CTD_human |
Tgene | | C0150055 | Chronic pain | 1 | CTD_human |
Tgene | | C0234247 | Neuralgia, Atypical | 1 | CTD_human |
Tgene | | C0234249 | Neuralgia, Stump | 1 | CTD_human |
Tgene | | C0270914 | Hereditary Motor and Sensory-Neuropathy Type II | 1 | ORPHANET |
Tgene | | C0423711 | Neuralgia, Perineal | 1 | CTD_human |
Tgene | | C0423712 | Neuralgia, Iliohypogastric Nerve | 1 | CTD_human |
Tgene | | C0432262 | Dysosteosclerosis | 1 | GENOMICS_ENGLAND |
Tgene | | C0598589 | Inherited neuropathies | 1 | GENOMICS_ENGLAND |
Tgene | | C0699739 | Sensory Neuropathy, Hereditary | 1 | GENOMICS_ENGLAND |
Tgene | | C0751371 | Neuralgia, Ilioinguinal | 1 | CTD_human |
Tgene | | C0751372 | Nerve Pain | 1 | CTD_human |
Tgene | | C0751373 | Paroxysmal Nerve Pain | 1 | CTD_human |
Tgene | | C3178789 | Widespread Chronic Pain | 1 | CTD_human |
Tgene | | C4551549 | Early Infantile Epileptic Encephalopathy 6 | 1 | GENOMICS_ENGLAND |