AutismKB 2.0

Evidence Details for ESYT1


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Basic Information Top
Gene Symbol:ESYT1 ( FAM62A,KIAA0747,MBC2 )
Gene Full Name: extended synaptotagmin-like protein 1
Band: 12q13.2
Quick LinksEntrez ID:23344; OMIM: NA; Uniprot ID:ESYT1_HUMAN; ENSEMBL ID: ENSG00000139641; HGNC ID: 29534
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ESYT1|23344|nucleotide
ATGGAGCGATCTCCAGGAGAGGGCCCCAGCCCCAGCCCCATGGACCAGCCCTCTGCTCCCTCCGACCCCACTGACCAGCCCCCCGCTGCTCACGCAAAGCCAGAC
CCAGGTTCTGGGGGCCAACCTGCTGGCCCTGGCGCGGCGGGTGAGGCCCTGGCGGTGCTGACTTCATTCGGGAGGCGGTTGCTGGTGCTGATACCTGTGTATTTG
GCCGGGGCAGTGGGACTCAGCGTGGGTTTCGTGCTCTTCGGCCTCGCCCTCTACCTGGGCTGGCGCCGGGTCCGCGACGAGAAAGAACGGAGCCTTCGAGCAGCG
AGGCAGCTACTGGACGACGAGGAGCAGCTCACTGCGAAAACTCTCTATATGAGTCATCGAGAGCTACCTGCCTGGGTCAGCTTCCCAGACGTGGAAAAGGCTGAA
TGGCTCAATAAGATTGTGGCCCAGGTCTGGCCCTTCCTGGGCCAGTATATGGAGAAGCTTCTGGCTGAAACTGTGGCTCCGGCTGTTAGGGGATCTAACCCCCAT
CTGCAAACATTTACATTTACACGAGTGGAACTGGGTGAAAAGCCATTGCGCATCATTGGAGTCAAGGTTCACCCAGGTCAGAGAAAAGAGCAGATCCTGCTGGAC
TTGAACATCAGCTATGTAGGTGATGTGCAGATTGATGTGGAAGTGAAGAAATATTTTTGCAAAGCAGGAGTCAAGGGCATGCAGCTACATGGCGTTTTGCGGGTG
ATACTGGAGCCACTCATTGGGGACCTTCCCTTCGTGGGGGCTGTGTCAATGTTCTTCATCCGACGCCCGACCCTAGACATCAACTGGACAGGGATGACCAACCTG
CTGGATATCCCAGGACTTAGCTCACTCTCTGACACCATGATCATGGACTCCATTGCTGCCTTCCTCGTGTTGCCCAACCGATTACTGGTGCCCCTTGTGCCTGAC
CTTCAAGATGTGGCTCAGTTGCGTTCCCCTCTGCCCAGGGGCATTATTCGAATTCACCTGCTGGCTGCTCGAGGGCTGAGTTCCAAGGACAAATATGTGAAGGGC
CTGATTGAGGGCAAGTCAGACCCATATGCACTTGTGCGTTTGGGTACCCAGACATTCTGCAGTCGTGTCATTGATGAAGAACTCAACCCACAGTGGGGAGAGACT
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>ESYT1|23344|protein
MERSPGEGPSPSPMDQPSAPSDPTDQPPAAHAKPDPGSGGQPAGPGAAGEALAVLTSFGRRLLVLIPVYLAGAVGLSVGFVLFGLALYLGWRRVRDEKERSLRAA
RQLLDDEEQLTAKTLYMSHRELPAWVSFPDVEKAEWLNKIVAQVWPFLGQYMEKLLAETVAPAVRGSNPHLQTFTFTRVELGEKPLRIIGVKVHPGQRKEQILLD
LNISYVGDVQIDVEVKKYFCKAGVKGMQLHGVLRVILEPLIGDLPFVGAVSMFFIRRPTLDINWTGMTNLLDIPGLSSLSDTMIMDSIAAFLVLPNRLLVPLVPD
LQDVAQLRSPLPRGIIRIHLLAARGLSSKDKYVKGLIEGKSDPYALVRLGTQTFCSRVIDEELNPQWGETYEVMVHEVPGQEIEVEVFDKDPDKDDFLGRMKLDV
GKVLQASVLDDWFPLQGGQGQVHLRLEWLSLLSDAEKLEQVLQWNWGVSSRPDPPSAAILVVYLDRAQDLPMVTSELYPPQLKKGNKEPNPMVQLSIQDVTQESK
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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 (3) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (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
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top