AutismKB 2.0

Evidence Details for ZNF813


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Basic Information Top
Gene Symbol:ZNF813 ( FLJ16542,FLJ34141 )
Gene Full Name: zinc finger protein 813
Band: 19q13.42
Quick LinksEntrez ID:126017; OMIM: NA; Uniprot ID:ZN813_HUMAN; ENSEMBL ID: ENSG00000198346; HGNC ID: 33257
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ZNF813|126017|nucleotide
ATGGCTCTTCCTCAGGGTCTATTGACATTCAGGGATGTGGCCATAGAATTCTCTCAGGAGGAGTGGAAATGCCTGGACCCTGCTCAGAGGACTCTATACAGGGAC
GTGATGCTGGAGAATTATAGGAACCTGGTCTCCCTGGATATCTCTTCCAAATGCATGATGAAGGAGTTCTCATCAACAGCACAAGGCAATAGAGAAGTGATCCAC
ACAGGGACATTGCAAAGACATGAAAGTCATCACACTGGAGACTTTCGCTTTCAGGAAATTGATAAAGATATTCATAACTTAGAGTTTCAGTGGCAAGAAGATGAA
AGAAATAGCCATGAAGCACCCATGACAGAAATCAAAAAGTTGACTGGTAGTGCAGACCGATATGATCAAAGGCATGCTGGAAACAAGCCTATTAAAGATCAGCTT
GGATCAAGCTTTCATTCGCATCTGCCTGAACTCCACATGTTTCAGACCCAAGGGAAAATTGGTAATCAAGTGGAGAAGTCTATCAACGATGCTTCCTCAATTTCA
ACATCCCAAAGAATTTCTTGTAGGCCCAAAACCCATATTTCTAATAACTATGGGAATAATTTCCGGAATTCTTCGTTACTCACACAAAAACAGGAGGTACACATG
AGAGAAAAGTCTTTCCAATGTAATGAGAGTGGCAAAGCCTTTAATTATAGCTCACTCTTAAGGAAACATCAAATAATCCATTTAGGAGAGAAACAATATAAATGT
GATGTATGTGGCAAGGTCTTTAATCGGAAGCGAAACCTAGTGTGCCATCGTAGATGTCACACTGGGGAGAAACCTTACAGGTGTAATGAGTGTGGCAAGACTTTC
AGTCAGACGTATTCCCTTACATGCCATCGTAGACTTCATACTGGAGAGAAACCTTACAAATGTGAAGAATGTGACAAAGCTTTCAGTTTCAAATCAAACCTTAAA
AGACATAGGAGAATTCATGCTGGAGAAAAACCATACAAGTGTAATGAATGTGGCAAGACCTTTAGTCAGACGTCATCCCTTACATGCCATCGTAGACTTCATACT
GGAGAGAAACCTTTCAAGTGTAATGAGTGTGGCAAGACCTTTAGTCGGAAGTCATCCCTTACATGCCATCATAGACTTCATACGGGAGAGAAACCTTATAAGTGT
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>ZNF813|126017|protein
MALPQGLLTFRDVAIEFSQEEWKCLDPAQRTLYRDVMLENYRNLVSLDISSKCMMKEFSSTAQGNREVIHTGTLQRHESHHTGDFRFQEIDKDIHNLEFQWQEDE
RNSHEAPMTEIKKLTGSADRYDQRHAGNKPIKDQLGSSFHSHLPELHMFQTQGKIGNQVEKSINDASSISTSQRISCRPKTHISNNYGNNFRNSSLLTQKQEVHM
REKSFQCNESGKAFNYSSLLRKHQIIHLGEKQYKCDVCGKVFNRKRNLVCHRRCHTGEKPYRCNECGKTFSQTYSLTCHRRLHTGEKPYKCEECDKAFSFKSNLK
RHRRIHAGEKPYKCNECGKTFSQTSSLTCHRRLHTGEKPFKCNECGKTFSRKSSLTCHHRLHTGEKPYKCNECGKTFSQELTLKCHRRLHTGEKPYKCNECGKVF
NKKANLARHHRLHSGEKPYKCTECVKTFSRNSALVIHKAIHIGEKRYKCNECGKTFSRISALVIHTAIHTGEKPYKCNECGKGFNRKTHLACHHRLHTGEKPYKC
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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 (2) 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
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Linkage Studies Top