AutismKB 2.0

Evidence Details for UBA7


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Basic Information Top
Gene Symbol:UBA7 ( D8,MGC12713,UBA1B,UBE1L,UBE2 )
Gene Full Name: ubiquitin-like modifier activating enzyme 7
Band: 3p21.31
Quick LinksEntrez ID:7318; OMIM: 191325; Uniprot ID:UBA7_HUMAN; ENSEMBL ID: ENSG00000182179; HGNC ID: 12471
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>UBA7|7318|nucleotide
ATGGATGCCCTGGACGCTTCGAAGCTACTGGATGAGGAGCTGTATTCAAGACAGCTGTATGTGCTGGGCTCACCTGCCATGCAGAGGATTCAGGGAGCCAGGGTC
CTGGTGTCAGGCCTGCAGGGCCTGGGGGCCGAGGTGGCCAAGAACTTGGTTCTGATGGGTGTGGGCAGCCTCACTCTGCATGATCCCCACCCCACCTGCTGGTCC
GACCTGGCTGCCCAGTTTCTCCTCTCAGAGCAGGACTTGGAAAGGAGCAGAGCCGAGGCCTCTCAAGAGCTCTTGGCTCAGCTCAACAGAGCTGTCCAGGTCGTC
GTGCACACGGGTGACATCACTGAGGACCTGCTGTTGGACTTCCAGGTGGTGGTGCTGACTGCTGCAAAGCTGGAGGAGCAGCTGAAGGTGGGCACCTTGTGTCAT
AAGCATGGAGTTTGCTTTCTGGCGGCTGACACCCGGGGCCTCGTGGGGCAGTTGTTCTGTGACTTTGGTGAGGACTTCACTGTGCAGGACCCCACAGAGGCAGAA
CCCCTGACAGCTGCCATCCAGCACATCTCCCAGGGCTCCCCTGGCATTCTCACTCTGAGGAAAGGGGCCAATACCCACTACTTCCGTGATGGAGACTTGGTGACT
TTCTCGGGAATTGAGGGAATGGTTGAGCTCAACGACTGTGATCCCCGGTCTATCCACGTGCGGGAGGATGGGTCCCTGGAGATTGGAGACACAACAACTTTCTCT
CGGTACTTGCGTGGTGGGGCTATCACTGAAGTCAAGAGACCCAAGACTGTGAGACATAAGTCCCTGGACACAGCCCTGCTCCAGCCCCATGTGGTGGCCCAGAGC
TCCCAGGAAGTTCACCATGCCCACTGCCTGCATCAGGCCTTCTGTGCACTGCACAAGTTCCAGCACCTCCATGGCCGGCCACCCCAGCCCTGGGATCCTGTTGAT
GCAGAGACTGTGGTGGGCCTGGCCCGGGACCTGGAACCACTGAAGCGGACAGAGGAAGAGCCACTGGAAGAGCCACTGGATGAGGCCCTAGTGCGGACAGTCGCC
CTAAGCAGTGCAGGTGTCTTGAGCCCTATGGTGGCCATGCTGGGTGCAGTAGCTGCCCAGGAAGTGCTGAAGGCAATCTCCAGGAAGTTCATGCCTCTGGACCAG
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>UBA7|7318|protein
MDALDASKLLDEELYSRQLYVLGSPAMQRIQGARVLVSGLQGLGAEVAKNLVLMGVGSLTLHDPHPTCWSDLAAQFLLSEQDLERSRAEASQELLAQLNRAVQVV
VHTGDITEDLLLDFQVVVLTAAKLEEQLKVGTLCHKHGVCFLAADTRGLVGQLFCDFGEDFTVQDPTEAEPLTAAIQHISQGSPGILTLRKGANTHYFRDGDLVT
FSGIEGMVELNDCDPRSIHVREDGSLEIGDTTTFSRYLRGGAITEVKRPKTVRHKSLDTALLQPHVVAQSSQEVHHAHCLHQAFCALHKFQHLHGRPPQPWDPVD
AETVVGLARDLEPLKRTEEEPLEEPLDEALVRTVALSSAGVLSPMVAMLGAVAAQEVLKAISRKFMPLDQWLYFDALDCLPEDGELLPSPEDCALRGSRYDGQIA
VFGAGFQEKLRRQHYLLVGAGAIGCELLKVFALVGLGAGNSGGLTVVDMDHIERSNLSRQFLFRSQDVGRPKAEVAAAAARGLNPDLQVIPLTYPLDPTTEHIYG
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Evidence summary Top

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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) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (2)
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