AutismKB 2.0

Evidence Details for ZNF311


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Basic Information Top
Gene Symbol:ZNF311 ( zf31 )
Gene Full Name: zinc finger protein 311
Band: 6p22.1
Quick LinksEntrez ID:282890; OMIM: NA; Uniprot ID:ZN311_HUMAN; ENSEMBL ID: ENSG00000197935; HGNC ID: 13847
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ZNF311|282890|nucleotide
ATGCAGGAGGTTGTGCTGTTGGATGAGAGTTCAGGACCACCAAGCCAGCTGCTTTGGACCCGCCAGGATACCCAGCTCCCTCAGGAAAGCGCTCTATTACCTGCT
CCATATCCTGCCTTCACTAAAGATGGAAGCCAAGGAAACCTGCCGCAAGCAGATATCACACTAATGAGCCAGGCCCAAGAGTCAGTGACATTTGAGGATGTAGCT
GTGAACTTCACTAACAGGGAGTGGCAGTGTCTGACCTACGCTCAAAGGCATCTCTATAAGGATGTGATGTTGGAAAATTATGGGAACATGGTATCACTTGGATTT
CCATTTCCTAAACCTCCTTTAATCTCTCATCTGGAGCGAGAAGTAGACCCCTGTGTGCAGGATCCACAGGACAGGGAGTCCCTAAGCTGCTCCTACCCAGTGTCA
GCTGACAAGATGTGGCCTGAGAATGAAAAGGCAAGTTCACAACAAGAGATTTTTGAAAATGGAGAAGCCTACTGGATGAAATTTAACAGTCTCCTAAAAGTTGAT
TCCCGGGATCCTAAGGTTAGAGAAGTTTGTGTTCAGGATGTCAAATTAGAGAATCAATGGGAAACATCTATAAGGGAGAAACTGAGAGAAGAGAAAGAAGGCTCT
GAGGAAGTGACCTGCAAAAAAGGAAAGAACCAGAAAGTGCTTAGTAAAAACTTGAATCCAAACTCAAAACATAGTCAATGTAATAAAGTTCTTATAGCACAGAAA
CTCCATGAATGTGCCAGGTGTGGCAAAAACTTCAGTTGGCACTCAGATCTAATTCTCCATGAGCAAATTCATTCTGGTGAGAAACCCCATGTGTGTAATGAGTGT
GGGAAAGCATTCAAGACCAGAAATCAGCTTTCTATGCACCGGATAATCCACACAGGGGAGAAACCTTTTAATTGCACCCAGTGTGGGAAGGCTTTCAACAGTAGA
TCAGCTCTTTGCCGACATAAAAAAACCCACAGTGGGGAGAAGCCTCACGAGTGCAGGGACTGTGGGAAGGCCTTCAAGACCAGGAACCGTCTCTGTATGCATCAG
CTTATCCACACCGGGGAGAAGCCTTACAAATGTAACTGCTGTGGGAAGGCCTTCCAGTTTAAGCATTCCCTTACCATCCATGGCAGAATCCACACTGGGGAGAAG
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>ZNF311|282890|protein
MQEVVLLDESSGPPSQLLWTRQDTQLPQESALLPAPYPAFTKDGSQGNLPQADITLMSQAQESVTFEDVAVNFTNREWQCLTYAQRHLYKDVMLENYGNMVSLGF
PFPKPPLISHLEREVDPCVQDPQDRESLSCSYPVSADKMWPENEKASSQQEIFENGEAYWMKFNSLLKVDSRDPKVREVCVQDVKLENQWETSIREKLREEKEGS
EEVTCKKGKNQKVLSKNLNPNSKHSQCNKVLIAQKLHECARCGKNFSWHSDLILHEQIHSGEKPHVCNECGKAFKTRNQLSMHRIIHTGEKPFNCTQCGKAFNSR
SALCRHKKTHSGEKPHECRDCGKAFKTRNRLCMHQLIHTGEKPYKCNCCGKAFQFKHSLTIHGRIHTGEKPYECEECGKAFSGSSDLTKHIRIHTGERPYECSKC
GRAFSRSSDLSKHKRIHTREKHYGCPQCGKDFSIKAELTKHRRIHTEEKRYRCEECGKAFRHNCKRRAHEREHTGEKPYQCRDCGKTFQDKHCLTIHQRIHTGEK
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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) 1 (1) 0 (0) 0 (0) 0 (2) 0 (0) 0 (1) 0 (0) 2 (4)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Guerini, 2010 Italy microsatellite-based genomic screen, SNP-based genomic screenASD 61 61 - - 61 149 210
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
Reference Case Number Family Number de novo Number Title
Neale BM, 2012 175 175 173 Patterns and rates of exonic de novo mutations in autism spectrum disorders.
De Rubeis S, 2014 2270 - 1702 Synaptic, transcriptional and chromatin genes disrupted in autism
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Reference Source Platform ADI-R ADOS Diagnosis Family Affected Validation Method
Total Simplex Multiplex
Toma C, 2014 - Illumina HiSeq 2000--ASD 10 - - 21 -
Low Scale Gene Studies Top

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  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018