Details for Gene SETX

GENE NAME SETX
CHROMOSOME 9
ENSEMBL ID None
ENTREZ ID ENSG00000107290
UNIPROT ACCESSION NUMBER Q7Z333
GO MOLECULAR FUNCTION ['DNA binding', 'hydrolase activity', 'protein binding', 'RNA binding', 'DNA helicase activity', 'transcription termination site sequence-specific DNA binding', 'identical protein binding', 'ATP binding']
ESSENTIAL IN MOUSE None
PATHWAYS hsa05014
27 combinations linked to SETX OLI635; OLI970; OLI282; OLI281; OLI435; OLI944; OLI1703; OLI785; OLI655; OLI270; OLI277; OLI786; OLI1702; OLI950; OLI1637; OLI945; OLI1633; OLI273; OLI283; OLI663; OLI664; OLI431; OLI659; OLI1246; OLI276; OLI661; OLI666
23 variants linked to SETX SETX:c.7640T>C, p.Ile2547Thr; SETX:c.968G>A, p.Ser323Asn; SETX:c.820A>G, p.Met274Val; SETX:c.41C>T, p.Thr14Ile; SETX:c.4660T>G, p.Cys1554Gly; SETX:c.7957A>G, p.Thr2653Ala; SETX:c.7114C>T, p.Asp2372Asn; SETX:c.2975A>G, p.Lys992Arg; SETX:p.Thr2521Ile; SETX:c.3229G>A, p.Asp1077Asn; SETX:c.472T>G, p.Leu158Val; SETX:p.Gln2588His; SETX:p.Ile591Val; SETX:c.992T>C, p.Ile331Thr; SETX:c.1304A>G, p.His435Arg; SETX:c.6457T>G, p.Cys2153Gly; SETX:c.*849G>T, ; SETX:c.59G>A, p.Arg20His; SETX:c.2385_2387delAAA, p.Ile795_Lys796delinsMet; SETX:c.8C>T, p.Thr3Ile; SETX:c.5322G>T, p.Gln1774His; SETX:p.Ile1304Trp; SETX:p.Ile1520Thr
3 diseases linked to SETX Amyotrophic lateral sclerosis; Progressive non-fluent aphasia; Corticobasal syndrome
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