AutismKB 2.0

Evidence Details for SAC3D1


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Basic Information Top
Gene Symbol:SAC3D1 ( HSU79266,SHD1 )
Gene Full Name: SAC3 domain containing 1
Band: 11q13.1
Quick LinksEntrez ID:29901; OMIM: NA; Uniprot ID:F8WC89_HUMAN; ENSEMBL ID: ENSG00000168061; HGNC ID: 30179
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SAC3D1|29901|nucleotide
ATGCCCGGCTGCGAGCTGCCCGTGGGCACCTGCCCGGACATGTGCCCGGCCGCCGAGCGCGCCCAGCGCGAAAGGGAGCACCGCCTGCACCGCTTGGAGGTGGTG
CCGGGTTGCCGCCAGGACCCGCCCCGCGCGGATCCGCAGCGCGCGGTGAAGGAGTACAGCCGACCCGCCGCCGGCAAGCCCCGGCCCCCGCCCAGCCAGTTGCGT
CCGCCCTCCGTGCTGCTGGCCACCGTGCGCTACCTGGCCGGTGAGGTGGCGGAGAGCGCCGACATCGCCCGCGCCGAGGTGGCCAGCTTCGTGGCAGACCGCTTG
CGAGCTGTGCTCCTGGACCTGGCGCTGCAGGGAGCGGGCGACGCCGAGGCAGCTGTGGTGCTGGAGGCGGCGCTGGCCACGCTGCTGACCGTAGTGGCGCGGCTC
GGGCCCGACGCGGCGCGGGGACCCGCGGACCCGGTGCTGCTGCAGGCCCAGGTGCAGGAGGGCTTCGGCTCGCTGCGGCGCTGCTACGCGCGGGGCGCCGGGCCG
CACCCCCGCCAACCCGCCTTCCAGGGCCTCTTTCTGCTCTATAACCTGGGCTCGGTGGAAGCCCTGCATGAGGTTCTACAGCTGCCTGCTGCCCTGCGCGCCTGC
CCGCCCCTCCGCAAGGCCTTGGCGGTAGATGCTGCCTTCCGAGAGGGCAATGCTGCCCGCCTGTTCCGTCTGCTCCAGACCCTGCCCTACCTGCCAAGTTGCGCT
GTGCAGTGCCATGTGGGCCATGCCCGCCGGGAAGCCCTGGCCCGCTTCGCTCGTGCCTTTAGCACCCCCAAGGGCCAGACCTTGCCTCTGGGCTTCATGGTCAAC
CTCTTGGCCCTGGATGGACTCAGGGAAGCACGGGACCTGTGCCAGGCCCACGGGCTGCCCTTGGACGGAGAGGAGAGAGTTGTGTTCCTGAGGGGTCGCTACGTG
GAGGAAGGGCTACCGCCTGCCAGTACGTGCAAGGTGTTAGTGGAGAGCAAACTTCGAGGACGTACCCTGGAGGAGGTGGTCATGGCAGAGGAGGAAGATGAGGGC
ACGGACAGACCTGGGTCCCCAGCCTGA
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>SAC3D1|29901|protein
MPGCELPVGTCPDMCPAAERAQREREHRLHRLEVVPGCRQDPPRADPQRAVKEYSRPAAGKPRPPPSQLRPPSVLLATVRYLAGEVAESADIARAEVASFVADRL
RAVLLDLALQGAGDAEAAVVLEAALATLLTVVARLGPDAARGPADPVLLQAQVQEGFGSLRRCYARGAGPHPRQPAFQGLFLLYNLGSVEALHEVLQLPAALRAC
PPLRKALAVDAAFREGNAARLFRLLQTLPYLPSCAVQCHVGHARREALARFARAFSTPKGQTLPLGFMVNLLALDGLREARDLCQAHGLPLDGEERVVFLRGRYV
EEGLPPASTCKVLVESKLRGRTLEEVVMAEEEDEGTDRPGSPA

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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 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (1)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top