AutismKB 2.0

Evidence Details for UCP3


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Basic Information Top
Gene Symbol:UCP3 ( SLC25A9 )
Gene Full Name: uncoupling protein 3 (mitochondrial, proton carrier)
Band: 11q13.4
Quick LinksEntrez ID:7352; OMIM: 602044; Uniprot ID:UCP3_HUMAN; ENSEMBL ID: ENSG00000175564; HGNC ID: 12519
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>UCP3|7352|nucleotide
ATGGTTGGACTGAAGCCTTCAGACGTGCCTCCCACCATGGCTGTGAAGTTCCTGGGGGCAGGCACAGCAGCCTGTTTTGCTGACCTCGTTACCTTTCCACTGGAC
ACAGCCAAGGTCCGCCTGCAGATCCAGGGGGAGAACCAGGCGGTCCAGACGGCCCGGCTCGTGCAGTACCGTGGCGTGCTGGGCACCATCCTGACCATGGTGCGG
ACTGAGGGTCCCTGCAGCCCCTACAATGGGCTGGTGGCCGGCCTGCAGCGCCAGATGAGCTTCGCCTCCATCCGCATCGGCCTCTATGACTCCGTCAAGCAGGTG
TACACCCCCAAAGGCGCGGACAACTCCAGCCTCACTACCCGGATTTTGGCCGGCTGCACCACAGGAGCCATGGCGGTGACCTGTGCCCAGCCCACAGATGTGGTG
AAGGTCCGATTTCAGGCCAGCATACACCTCGGGCCATCCAGGAGCGACAGAAAATACAGCGGGACTATGGACGCCTACAGAACCATCGCCAGGGAGGAAGGAGTC
AGGGGCCTGTGGAAAGGAACTTTGCCCAACATCATGAGGAATGCTATCGTCAACTGTGCTGAGGTGGTGACCTACGACATCCTCAAGGAGAAGCTGCTGGACTAC
CACCTGCTCACTGACAACTTCCCCTGCCACTTTGTCTCTGCCTTTGGAGCCGGCTTCTGTGCCACAGTGGTGGCCTCCCCGGTGGACGTGGTGAAGACCCGGTAT
ATGAACTCACCTCCAGGCCAGTACTTCAGCCCCCTCGACTGTATGATAAAGATGGTGGCCCAGGAGGGCCCCACAGCCTTCTACAAGGGATTTACACCCTCCTTT
TTGCGTTTGGGATCCTGGAACGTGGTGATGTTCGTAACCTATGAGCAGCTGAAACGGGCCCTGATGAAAGTCCAGATGTTACGGGAATCACCGTTTTGA


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>UCP3|7352|protein
MVGLKPSDVPPTMAVKFLGAGTAACFADLVTFPLDTAKVRLQIQGENQAVQTARLVQYRGVLGTILTMVRTEGPCSPYNGLVAGLQRQMSFASIRIGLYDSVKQV
YTPKGADNSSLTTRILAGCTTGAMAVTCAQPTDVVKVRFQASIHLGPSRSDRKYSGTMDAYRTIAREEGVRGLWKGTLPNIMRNAIVNCAEVVTYDILKEKLLDY
HLLTDNFPCHFVSAFGAGFCATVVASPVDVVKTRYMNSPPGQYFSPLDCMIKMVAQEGPTAFYKGFTPSFLRLGSWNVVMFVTYEQLKRALMKVQMLRESPF


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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 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 2 (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
Berkel, 2010 Canada SNP microarrayASD - - - - 396 5023 5419
Linkage Studies Top