GENE NAME | SCRIB |
CHROMOSOME | 8 |
ENSEMBL ID | ENSG00000180900 |
ENTREZ ID | 23513 |
UNIPROT ACCESSION NUMBER | Q14160 |
GO MOLECULAR FUNCTION | |
ESSENTIAL IN MOUSE | Essential |
PATHWAYS | hsa05203; R-HSA-4086400; hsa04390; hsa05165; R-HSA-3858494; hsa04530; R-HSA-4608870; hsa05165; hsa04390; hsa04390; hsa05165; hsa05203; hsa04530; R-HSA-195721; R-HSA-162582; hsa04530; R-HSA-195721; R-HSA-162582; hsa05165; hsa04390; hsa05203; R-HSA-4086400; hsa04530; R-HSA-4608870; R-HSA-3858494; hsa05203 |
10 combinations linked to SCRIB | OLI510; OLI722; OLI703; OLI506; OLI723; OLI505; OLI509; OLI758; OLI730; OLI507 |
9 variants linked to SCRIB | SCRIB:c.3323G>A, p.Gly1108Glu; SCRIB:c.1853A>G, p.Lys618Arg; SCRIB:c.3131G>A, p.Arg1044Gln; SCRIB:c.1931G>T, p.Gly644Val; SCRIB:c.4896A>T, p.Glu1632Asp; SCRIB:c.2524G>A, p.Gly842Arg; SCRIB:c.2407G>A, p.Ala803Thr; SCRIB:c.1904A>G, p.Asp635Gly; SCRIB:c.3979G>A, p.Val1327Met |
2 diseases linked to SCRIB | Isolated anencephaly; Isolated spina bifida |