AutismKB 2.0

Evidence Details for UBAC1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:UBAC1 ( GBDR1,RP11-432J22.3,UBADC1 )
Gene Full Name: UBA domain containing 1
Band: 9q34.3
Quick LinksEntrez ID:10422; OMIM: 608129; Uniprot ID:UBAC1_HUMAN; ENSEMBL ID: ENSG00000130560; HGNC ID: 30221
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>UBAC1|10422|nucleotide
ATGTTCGTGCAGGAGGAGAAGATCTTCGCGGGCAAGGTGCTGCGGCTGCACATCTGCGCGTCCGACGGCGCCGAGTGGCTGGAGGAGGCCACCGAGGACACCTCG
GTGGAGAAGCTCAAGGAGCGCTGCCTCAAGCACTGTGCTCATGGGAGCTTAGAAGATCCCAAAAGTATAACCCATCATAAATTAATCCACGCTGCCTCAGAGAGG
GTGCTGAGTGATGCCAGGACCATCCTGGAAGAGAACATCCAGGACCAAGATGTCCTATTATTGATAAAAAAGCGTGCTCCATCACCACTTCCCAAGATGGCTGAT
GTCTCAGCAGAAGAAAAGAAAAAACAAGACCAGAAAGCTCCAGATAAAGAGGCCATACTGCGGGCCACCGCCAACCTGCCCTCCTACAACATGGACCGGGCCGCG
GTCCAGACCAACATGAGAGACTTCCAGACAGAACTCCGGAAGATACTGGTGTCTCTCATCGAGGTGGCGCAGAAGCTGTTAGCGCTGAACCCAGATGCGGTGGAA
TTGTTTAAGAAGGCGAATGCAATGCTGGACGAGGACGAGGATGAGCGTGTGGACGAGGCTGCCCTGCGGCAGCTCACGGAGATGGGCTTTCCGGAGAACAGAGCC
ACCAAGGCCCTTCAGCTGAACCACATGTCGGTGCCTCAGGCCATGGAGTGGCTAATTGAACACGCAGAAGACCCGACCATAGACACGCCTCTTCCTGGCCAAGCT
CCCCCAGAGGCCGAGGGGGCCACAGCAGCTGCCTCCGAGGCTGCCGCGGGAGCCAGCGCCACCGATGAGGAGGCCAGAGATGAGCTGACGGAAATCTTCAAGAAG
ATCCGGAGGAAAAGGGAGTTTCGGGCTGATGCTCGGGCCGTCATTTCCCTGATGGAGATGGGGTTCGACGAGAAAGAGGTGATAGATGCCCTCAGAGTGAACAAC
AACCAGCAGAATGCCGCGTGCGAGTGGCTGCTGGGGGACCGGAAGCCCTCTCCGGAGGAGCTGGACAAGGGCATCGACCCCGACAGTCCTCTCTTTCAGGCCATC
CTGGATAACCCGGTGGTGCAGCTGGGCCTGACCAACCCGAAAACATTGCTAGCATTTGAAGACATGCTGGAGAACCCACTGAACAGCACCCAGTGGATGAATGAT
Show »

>UBAC1|10422|protein
MFVQEEKIFAGKVLRLHICASDGAEWLEEATEDTSVEKLKERCLKHCAHGSLEDPKSITHHKLIHAASERVLSDARTILEENIQDQDVLLLIKKRAPSPLPKMAD
VSAEEKKKQDQKAPDKEAILRATANLPSYNMDRAAVQTNMRDFQTELRKILVSLIEVAQKLLALNPDAVELFKKANAMLDEDEDERVDEAALRQLTEMGFPENRA
TKALQLNHMSVPQAMEWLIEHAEDPTIDTPLPGQAPPEAEGATAAASEAAAGASATDEEARDELTEIFKKIRRKREFRADARAVISLMEMGFDEKEVIDALRVNN
NQQNAACEWLLGDRKPSPEELDKGIDPDSPLFQAILDNPVVQLGLTNPKTLLAFEDMLENPLNSTQWMNDPETGPVMLQISRIFQTLNRT

Show »

Evidence summary Top

Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
Evidences Syndromic Gene GWAS CNV Linkage Association Expression NGS de novo NGS Mosaic NGS Other Low-Scale Gene Studies Total
Score (No. of Studies) No 0 (0) 0 (1) 1 (3) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (5)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Gregory, 2009 USA aCGHASD - - - - 119 54 173
Linkage Studies Top