AutismKB 2.0

Evidence Details for UNC13A


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Basic Information Top
Gene Symbol:UNC13A ( KIAA1032,Munc13-1 )
Gene Full Name: unc-13 homolog A (C. elegans)
Band: 19p13.11
Quick LinksEntrez ID:23025; OMIM: 609894; Uniprot ID:UN13A_HUMAN; ENSEMBL ID: ENSG00000130477; HGNC ID: 23150
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>UNC13A|23025|nucleotide
ATGTCTCTGCTTTGCGTTGGAGTCAAAAAAGCCAAGTTTGATGGTGCCCAAGAGAAATTCAACACGTACGTGACCCTGAAAGTGCAGAATGTCAAGAGCACGACC
ATCGCGGTGCGGGGCAGCCAGCCCAGCTGGGAGCAGGATTTCATGTTCGAGATTAACCGTCTGGATTTGGGACTGACGGTGGAGGTGTGGAATAAGGGTCTCATC
TGGGACACAATGGTGGGCACTGTGTGGATCCCACTGAGGACCATCCGCCAGTCCAATGAGGAGGGCCCTGGAGAGTGGCTGACGCTGGACTCCCAGGTCATCATG
GCAGACAGTGAGATCTGTGGCACCAAGGACCCCACCTTCCACCGCATCCTCCTGGACACGCGCTTTGAGCTACCCTTAGACATTCCTGAAGAGGAGGCTCGCTAC
TGGGCCAAGAAGCTGGAGCAGCTCAATGCTATGCGGGACCAGGATGAATATTCGTTCCAAGATGAGCAAGACAAGCCTCTGCCTGTCCCCAGCAACCAGTGCTGC
AACTGGAATTATTTTGGCTGGGGTGAGCAGCACAACGATGACCCCGACAGTGCAGTGGATGATCGTGACAGTGACTACCGCAGTGAAACGAGCAACAGCATCCCG
CCGCCCTATTATACTACGTCACAACCCAACGCCTCAGTCCACCAATATTCTGTTCGCCCACCACCCCTGGGCTCCCGGGAGTCCTACAGTGACTCCATGCACAGT
TACGAGGAGTTCTCTGAGCCACAAGCCCTCAGCCCCACGGGTAGCAGCCGCTATGCCTCTTCCGGGGAGCTGAGCCAGGGAAGCTCTCAGCTGAGCGAGGACTTC
GACCCTGACGAGCACAGCCTGCAGGGCTCCGACATGGAGGATGAGCGGGACCGGGACTCCTACCACTCCTGCCACAGCTCGGTCAGCTACCACAAAGACTCGCCT
CGCTGGGACCAGGATGAGGAAGAGCTGGAGGAGGACCTGGAGGACTTCCTGGAGGAGGAGGAGCTGCCTGAAGATGAGGAGGAGCTGGAGGAGGAGGAGGAGGAG
GTGCCTGACGATTTGGGCAGCTATGCCCAGCGTGAAGACGTAGCTGTGGCTGAGCCCAAAGACTTCAAACGCATCAGCCTCCCGCCAGCTGCCCCAGGGAAGGAG
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>UNC13A|23025|protein
MSLLCVGVKKAKFDGAQEKFNTYVTLKVQNVKSTTIAVRGSQPSWEQDFMFEINRLDLGLTVEVWNKGLIWDTMVGTVWIPLRTIRQSNEEGPGEWLTLDSQVIM
ADSEICGTKDPTFHRILLDTRFELPLDIPEEEARYWAKKLEQLNAMRDQDEYSFQDEQDKPLPVPSNQCCNWNYFGWGEQHNDDPDSAVDDRDSDYRSETSNSIP
PPYYTTSQPNASVHQYSVRPPPLGSRESYSDSMHSYEEFSEPQALSPTGSSRYASSGELSQGSSQLSEDFDPDEHSLQGSDMEDERDRDSYHSCHSSVSYHKDSP
RWDQDEEELEEDLEDFLEEEELPEDEEELEEEEEEVPDDLGSYAQREDVAVAEPKDFKRISLPPAAPGKEDKAPVAPTEAPDMAKVAPKPATPDKVPAAEQIPEA
EPPKDEESFRPREDEEGQEGQDSMSRAKANWLRAFNKVRMQLQEARGEGEMSKSLWFKGGPGGGLIIIDSMPDIRKRKPIPLVSDLAMSLVQSRKAGITSALASS
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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 (1) 1 (1) 0 (0) 0 (0) 0 (1) 0 (1) 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
Gai, 2011 AGRE SNP microarray--autism - - - - 1224 3801 5025
Linkage Studies Top