AutismKB 2.0

Evidence Details for UNC5C


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Basic Information Top
Gene Symbol:UNC5C ( UNC5H3 )
Gene Full Name: unc-5 homolog C (C. elegans)
Band: 4q22.3
Quick LinksEntrez ID:8633; OMIM: 603610; Uniprot ID:UNC5C_HUMAN; ENSEMBL ID: ENSG00000182168; HGNC ID: 12569
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>UNC5C|8633|nucleotide
ATGAGGAAAGGTCTGCGGGCGACAGCGGCCCGCTGCGGACTGGGACTGGGATACTTGCTGCAAATGCTCGTGCTACCTGCCCTGGCCCTGCTCAGCGCCAGCGGC
ACTGGCTCCGCCGCCCAAGATGATGACTTTTTTCATGAACTCCCAGAAACTTTTCCTTCTGATCCACCTGAGCCTCTGCCACATTTCCTTATTGAGCCTGAAGAA
GCTTATATTGTGAAGAATAAGCCTGTGAACCTGTACTGTAAAGCAAGCCCTGCCACCCAGATCTATTTCAAGTGTAATAGTGAATGGGTTCATCAGAAGGACCAC
ATAGTAGATGAAAGAGTAGATGAAACTTCCGGTCTCATTGTCCGGGAAGTGAGCATTGAGATTTCGCGCCAGCAAGTGGAAGAACTCTTTGGACCTGAAGATTAC
TGGTGCCAGTGTGTGGCCTGGAGCTCCGCGGGTACCACAAAGAGCCGGAAGGCGTATGTGCGCATTGCATATCTACGGAAGACATTTGAGCAGGAACCCCTAGGA
AAGGAAGTGTCTTTGGAACAGGAAGTCTTACTCCAGTGTCGACCACCTGAAGGGATCCCAGTGGCTGAGGTGGAATGGTTGAAAAATGAAGACATAATTGATCCC
GTTGAAGATCGGAATTTTTATATTACTATTGATCACAACCTCATCATAAAGCAGGCCCGACTCTCTGATACTGCAAATTACACCTGTGTTGCCAAAAACATTGTT
GCCAAGAGGAAAAGTACAACTGCCACTGTCATAGTCTATGTCAACGGTGGCTGGTCCACCTGGACGGAGTGGTCTGTGTGTAACAGCCGCTGTGGACGAGGGTAT
CAGAAACGTACAAGGACTTGTACCAACCCGGCACCACTCAATGGGGGTGCCTTCTGTGAAGGGCAGAGTGTGCAGAAAATAGCCTGTACTACGTTATGCCCAGTG
GATGGCAGGTGGACGCCATGGAGCAAGTGGTCTACTTGTGGAACTGAGTGCACCCACTGGCGCAGGAGGGAGTGCACGGCGCCAGCCCCCAAGAATGGAGGCAAG
GACTGCGACGGCCTCGTCTTGCAATCCAAGAACTGCACTGATGGGCTTTGCATGCAGACTGCTCCTGATTCAGATGATGTTGCTCTCTATGTTGGGATTGTGATA
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>UNC5C|8633|protein
MRKGLRATAARCGLGLGYLLQMLVLPALALLSASGTGSAAQDDDFFHELPETFPSDPPEPLPHFLIEPEEAYIVKNKPVNLYCKASPATQIYFKCNSEWVHQKDH
IVDERVDETSGLIVREVSIEISRQQVEELFGPEDYWCQCVAWSSAGTTKSRKAYVRIAYLRKTFEQEPLGKEVSLEQEVLLQCRPPEGIPVAEVEWLKNEDIIDP
VEDRNFYITIDHNLIIKQARLSDTANYTCVAKNIVAKRKSTTATVIVYVNGGWSTWTEWSVCNSRCGRGYQKRTRTCTNPAPLNGGAFCEGQSVQKIACTTLCPV
DGRWTPWSKWSTCGTECTHWRRRECTAPAPKNGGKDCDGLVLQSKNCTDGLCMQTAPDSDDVALYVGIVIAVIVCLAISVVVALFVYRKNHRDFESDIIDSSALN
GGFQPVNIKAARQDLLAVPPDLTSAAAMYRGPVYALHDVSDKIPMTNSPILDPLPNLKIKVYNTSGAVTPQDDLSEFTSKLSPQMTQSLLENEALSLKNQSLARQ
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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 (2) 1 (1) 0 (0) 0 (0) 0 (1) 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
Jacquemont, 2006 France aCGHASD - - - - 29 - 29
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Linkage Studies Top