AutismKB 2.0

Evidence Details for UAP1L1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:UAP1L1 ( RP11-229P13.18 )
Gene Full Name: UDP-N-acteylglucosamine pyrophosphorylase 1-like 1
Band: 9q34.3
Quick LinksEntrez ID:91373; OMIM: NA; Uniprot ID:UAP1L_HUMAN; ENSEMBL ID: ENSG00000197355; HGNC ID: 28082
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>UAP1L1|91373|nucleotide
ATGGCTTCGGAGCAGGACGTGCGCGCCCGGCTGCAGCGCGCTGGCCAGGAGCACCTCCTGCGCTTCTGGGCCGAGCTGGCGCCGGAGCCACGAGCCGCGCTGCTG
GCGGAGCTGGCGCTGCTGGAGCCCGAGGCGCTGCGCGAGCACTGCCGGCGGGCGGCGGAGGCCTGCGCGCGCCCCCACGGCCCGCCGCCCGACTTGGCCGCGCGC
CTGCGGCCCCTGCCCCCAGAGCGCGTGGGCAGGGCCAGCCGCAGCGACCCCGAGACACGGCGGCGCTGGGAGGAGGAAGGTTTCCGTCAGATTTCTCTGAACAAG
GTGGCCGTCCTGCTGCTGGCTGGGGGGCAGGGCACTCGCCTGGGCGTGACCTACCCCAAGGGTATGTACCGTGTGGGGCTGCCCAGCCGGAAGACCCTGTACCAG
CTGCAGGCGGAGCGGATTCGGCGGGTGGAGCAGCTGGCCGGTGAGCGCCACGGGACCCGCTGCACCGTCCCCTGGTACGTCATGACCAGCGAGTTCACTCTGGGG
CCCACGGCCGAGTTCTTCAGGGAGCACAACTTCTTCCACCTGGACCCCGCCAACGTGGTCATGTTTGAGCAGCGCCTGCTGCCTGCTGTGACCTTTGATGGCAAG
GTTATCCTGGAGCGGAAAGACAAAGTTGCCATGGCCCCAGACGGCAACGGGGGCCTCTACTGCGCGCTGGAGGACCACAAGATCCTGGAGGACATGGAGCGCCGG
GGAGTGGAGTTTGTGCACGTGTACTGTGTGGACAACATCCTGGTGCGGCTGGCGGACCCTGTCTTCATCGGCTTCTGTGTGTTGCAGGGCGCAGACTGTGGCGCC
AAGGTGGTGGAAAAGGCATACCCCGAGGAGCCCGTGGGCGTGGTGTGCCAGGTGGACGGTGTCCCCCAGGTGGTGGAGTACAGCGAGATCAGTCCTGAGACCGCA
CAGCTACGTGCCTCCGACGGGAGCCTGCTGTACAATGCAGGCAACATCTGCAACCACTTCTTCACCCGAGGCTTCCTTAAGGCGGTCACCAGGGAGTTTGAGCCT
TTGCTGAAGCCACACGTGGCTGTGAAGAAGGTCCCGTATGTGGATGAGGAGGGGAATCTGGTAAAGCCGCTAAAACCGAACGGGATAAAGATGGAGAAGTTTGTG
Show »

>UAP1L1|91373|protein
MASEQDVRARLQRAGQEHLLRFWAELAPEPRAALLAELALLEPEALREHCRRAAEACARPHGPPPDLAARLRPLPPERVGRASRSDPETRRRWEEEGFRQISLNK
VAVLLLAGGQGTRLGVTYPKGMYRVGLPSRKTLYQLQAERIRRVEQLAGERHGTRCTVPWYVMTSEFTLGPTAEFFREHNFFHLDPANVVMFEQRLLPAVTFDGK
VILERKDKVAMAPDGNGGLYCALEDHKILEDMERRGVEFVHVYCVDNILVRLADPVFIGFCVLQGADCGAKVVEKAYPEEPVGVVCQVDGVPQVVEYSEISPETA
QLRASDGSLLYNAGNICNHFFTRGFLKAVTREFEPLLKPHVAVKKVPYVDEEGNLVKPLKPNGIKMEKFVFDVFRFAKNFAALEVLREEEFSPLKNAEPADRDSP
RTARQALLTQHYRWALRAGARFLDAHGAWLPELPSLPPNGDPPAICEISPLVSYSGEGLEVYLQGREFQSPLILDEDQAREPQLQES
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 (2) 1 (3) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (6)
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
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Linkage Studies Top