AutismKB 2.0

Evidence Details for ZNF516


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Basic Information Top
Gene Symbol:ZNF516 ( HsT287 )
Gene Full Name: zinc finger protein 516
Band: 18q23
Quick LinksEntrez ID:9658; OMIM: NA; Uniprot ID:ZN516_HUMAN; ENSEMBL ID: ENSG00000101493; HGNC ID: 28990
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ZNF516|9658|nucleotide
ATGGATCGCAACAGAGAGGCCGAGATGGAGCTGAGGCGAGGCCCCAGCCCCACCAGGGCCGGCCGGGGCCACGAGGTGGATGGGGACAAGGCTACCTGCCACACC
TGCTGCATCTGCGGCAAGAGCTTCCCCTTCCAGAGCTCGCTTTCGCAGCACATGCGCAAGCACACGGGCGAGAAGCCCTACAAGTGTCCCTACTGCGACCACCGG
GCTTCCCAGAAGGGCAACCTGAAGATTCACATCCGGAGCCACCGCACGGGGACTCTGATTCAGGGACACGAGCCGGAGGCGGGCGAGGCGCCGCTGGGTGAGATG
CGCGCCTCCGAGGGCCTGGACGCCTGCGCCAGCCCCACCAAGAGCGCCTCGGCCTGCAACCGGCTGCTGAACGGGGCCTCGCAGGCCGACGGCGCCAGGGTCCTG
AACGGGGCCTCGCAGGCCGACAGCGGCAGAGTCCTGCTGCGGAGCAGCAAGAAGGGGGCAGAGGGGTCCGCATGCGCCCCGGGGGAGGCCAAGGCAGCGGTCCAG
TGCTCCTTCTGCAAGAGCCAGTTCGAGCGTAAGAAGGACCTGGAGCTGCACGTGCACCAGGCGCACAAGCCGTTCAAGTGCAGGCTGTGCAGCTACGCGACGCTG
CGGGAGGAGTCGCTGCTGAGCCACATCGAGAGGGACCACATCACCGCGCAGGGGCCCGGCAGCGGCGAGGCCTGCGTGGAGAACGGCAAGCCCGAGCTGAGCCCC
GGGGAGTTCCCGTGCGAGGTGTGTGGCCAGGCCTTCAGCCAGACCTGGTTCCTGAAGGCGCACATGAAGAAGCACCGGGGCTCCTTCGACCACGGCTGCCACATC
TGCGGCCGTAGGTTCAAGGAGCCCTGGTTCCTCAAGAACCACATGAAGGCGCACGGCCCCAAGACGGGCAGCAAGAACAGGCCCAAGAGTGAGCTGGACCCCATC
GCCACCATCAACAACGTGGTCCAGGAGGAGGTGATCGTCGCCGGCCTGAGCCTCTACGAGGTCTGCGCCAAGTGCGGGAACCTGTTTACAAACCTGGACAGCTTG
AACGCCCACAATGCCATCCACCGCAGAGTCGAGGCCAGCCGCACGCGCGCCCCGGCCGAGGAGGGGGCGGAGGGGCCCTCGGACACCAAGCAGTTCTTCCTCCAG
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>ZNF516|9658|protein
MDRNREAEMELRRGPSPTRAGRGHEVDGDKATCHTCCICGKSFPFQSSLSQHMRKHTGEKPYKCPYCDHRASQKGNLKIHIRSHRTGTLIQGHEPEAGEAPLGEM
RASEGLDACASPTKSASACNRLLNGASQADGARVLNGASQADSGRVLLRSSKKGAEGSACAPGEAKAAVQCSFCKSQFERKKDLELHVHQAHKPFKCRLCSYATL
REESLLSHIERDHITAQGPGSGEACVENGKPELSPGEFPCEVCGQAFSQTWFLKAHMKKHRGSFDHGCHICGRRFKEPWFLKNHMKAHGPKTGSKNRPKSELDPI
ATINNVVQEEVIVAGLSLYEVCAKCGNLFTNLDSLNAHNAIHRRVEASRTRAPAEEGAEGPSDTKQFFLQCLNLRPSAAGDSCPGTQAGRRVAELDPVNSYQAWQ
LATRGKVAEPAEYLKYGAWDEALAGDVAFDKDRREYVLVSQEKRKREQDAPAAQGPPRKRASGPGDPAPAGHLDPRSAARPNRRAAATTGQGKSSECFECGKIFR
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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 (1) 0 (3) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (5)
Syndromic Autism Gene Top
Genome-Wide Association Studies (By Ethnic Group) Top
Family Based Association Studies: 1
Reference Stage Platform #Families Affecteds Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ
(range)
CAUCASIAN
Hussman, 2011_1 Discovery Illumina Infinium Human 1 M beadship 597 -
(-)
ASD -
-
-
-
Case Control Based Association Studies: 0
Reference Stage Platform ASD Cases Normal Controls Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
No Evidence.
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Marshall, 2008 - SNP microarrayASD 427 238 189 - 427 500 927
Bremer, 2011 - aCGHASD - - - - 223 - 223
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top