AutismKB 2.0

Evidence Details for UPK3A


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Basic Information Top
Gene Symbol:UPK3A ( MGC119178,UP3A,UPIII,UPIIIA,UPK3 )
Gene Full Name: uroplakin 3A
Band: 22q13.31
Quick LinksEntrez ID:7380; OMIM: 611559; Uniprot ID:UPK3A_HUMAN; ENSEMBL ID: ENSG00000100373; HGNC ID: 12580
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>UPK3A|7380|nucleotide
ATGCCTCCGCTCTGGGCCCTGCTGGCCCTCGGCTGCCTGCGGTTCGGCTCGGCTGTGAACCTGCAGCCCCAACTGGCCAGTGTGACTTTCGCCACCAACAACCCC
ACACTTACCACTGTGGCCTTGGAAAAGCCTCTCTGCATGTTTGACAGCAAAGAGGCCCTCACTGGCACCCACGAGGTCTACCTGTATGTCCTGGTCGACTCAGTC
ACCCCATACTCGACGATCGACACGTGGCCAGGCCGGCGGAGCGGAGGCATGATCGTCATCACTTCCATCCTGGGCTCCCTGCCCTTCTTTCTACTTGTGGGTTTT
GCTGGCGCCATTGCCCTCAGCCTCGTGGACATGGGGAGTTCTGATGGGGAAACGACTCACGACTCCCAAATCACTCAGGAGGCTGTTCCCAAGTCGCTGGGGGCC
TCGGAGTCTTCCTACACGTCCGTGAACCGGGGGCCGCCACTGGACAGGGCTGAGGTGTATTCCAGCAAGCTCCAAGACTGA






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>UPK3A|7380|protein
MPPLWALLALGCLRFGSAVNLQPQLASVTFATNNPTLTTVALEKPLCMFDSKEALTGTHEVYLYVLVDSVTPYSTIDTWPGRRSGGMIVITSILGSLPFFLLVGF
AGAIALSLVDMGSSDGETTHDSQITQEAVPKSLGASESSYTSVNRGPPLDRAEVYSSKLQD



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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) 1 (4) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 2 (4)
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
Prasad, 2000 - FISHautism - - - - 1 - 1
Goizet, 2000 - FISHautism - - - - 1 - 1
Wassink, 2001 USA Chromosomal analysis of G-bandautism - - - - 278 - 278
Chen, 2011 - FISH, aCGH--autism - - - - 1 - 1
Linkage Studies Top