AutismKB 2.0

Evidence Details for UNC13C


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Basic Information Top
Gene Symbol:UNC13C ( DKFZp547H074 )
Gene Full Name: unc-13 homolog C (C. elegans)
Band: 15q21.3
Quick LinksEntrez ID:440279; OMIM: NA; Uniprot ID:UN13C_HUMAN; ENSEMBL ID: ENSG00000137766; HGNC ID: 23149
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>UNC13C|440279|nucleotide
ATGGTGGCTAATTTTTTCAAGAGCTTGATTTTACCTTACATTCATAAGCTTTGCAAAGGAATGTTTACAAAGAAATTGGGAAATACAAACAAAAACAAAGAGTAT
CGTCAGCAGAAAAAGGATCAAGACTTCCCCACTGCTGGCCAGACCAAATCCCCCAAATTTTCTTACACTTTTAAAAGCACTGTAAAGAAGATTGCAAAGTGTTCA
TCCACTCACAACTTATCCACTGAGGAAGACGAGGCCAGTAAAGAGTTTTCCCTCTCACCAACATTCAGTTACCGAGTAGCTATTGCCAATGGCCTACAAAAGAAT
GCTAAAGTAACCAACAGTGATAATGAGGATCTGCTTCAAGAGCTCTCTTCAATCGAGAGTTCCTACTCAGAATCATTAAATGAACTAAGGAGTAGCACAGAAAAC
CAGGCACAATCAACACACACAATGCCAGTTAGACGCAACAGAAAGAGTTCAAGCAGCCTTGCACCCTCTGAGGGCAGCTCTGACGGGGAGCGTACTCTACATGGC
TTAAAACTGGGAGCTTTACGAAAACTGAGAAAATGGAAAAAGAGTCAAGAATGTGTCTCCTCAGACTCAGAGTTAAGCACCATGAAAAAATCCTGGGGAATAAGA
AGTAAGTCTTTGGACAGAACTGTCCGAAACCCAAAGACAAATGCCCTGGAGCCAGGGTTCAGTTCCTCTGGCTGCATTAGCCAAACACATGATGTCATGGAAATG
ATCTTTAAGGAACTTCAGGGAATAAGTCAGATTGAAACAGAACTTTCTGAACTACGAGGGCACGTCAATGCTCTCAAGCACTCCATCGATGAGATCTCCAGCAGT
GTGGAGGTTGTACAAAGTGAAATTGAGCAGTTGCGCACAGGGTTTGTCCAGTCTCGGAGGGAAACTAGAGACATCCATGATTATATTAAGCACTTAGGTCATATG
GGTAGCAAGGCAAGCCTGAGATTTTTAAATGTGACTGAAGAAAGATTTGAATATGTTGAAAGCGTGGTGTACCAAATTCTAATAGATAAAATGGGTTTTTCAGAT
GCACCAAATGCTATTAAAATTGAATTTGCTCAGAGGATAGGACACCAGAGAGACTGCCCAAATGCAAAGCCTCGACCCATACTTGTGTACTTTGAAACCCCTCAA
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>UNC13C|440279|protein
MVANFFKSLILPYIHKLCKGMFTKKLGNTNKNKEYRQQKKDQDFPTAGQTKSPKFSYTFKSTVKKIAKCSSTHNLSTEEDEASKEFSLSPTFSYRVAIANGLQKN
AKVTNSDNEDLLQELSSIESSYSESLNELRSSTENQAQSTHTMPVRRNRKSSSSLAPSEGSSDGERTLHGLKLGALRKLRKWKKSQECVSSDSELSTMKKSWGIR
SKSLDRTVRNPKTNALEPGFSSSGCISQTHDVMEMIFKELQGISQIETELSELRGHVNALKHSIDEISSSVEVVQSEIEQLRTGFVQSRRETRDIHDYIKHLGHM
GSKASLRFLNVTEERFEYVESVVYQILIDKMGFSDAPNAIKIEFAQRIGHQRDCPNAKPRPILVYFETPQQRDSVLKKSYKLKGTGIGISTDILTHDIRERKEKG
IPSSQTYESMAIKLSTPEPKIKKNNWQSPDDSDEDLESDLNRNSYAVLSKSELLTKGSTSKPSSKSHSARSKNKTANSSRISNKSDYDKISSQLPESDILEKQTT
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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) 1 (2) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 4 (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
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Berkel, 2010 Canada SNP microarrayASD - - - - 396 5023 5419
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Egger G, 2014 Austria Microarray--ASD 73 - - - 245 2357 -
Linkage Studies Top