AutismKB 2.0

Evidence Details for ZNF385A


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Basic Information Top
Gene Symbol:ZNF385A ( DKFZp586G1122,HZF,RZF,ZFP385,ZNF385 )
Gene Full Name: zinc finger protein 385A
Band: 12q13.13
Quick LinksEntrez ID:25946; OMIM: 609124; Uniprot ID:Z385A_HUMAN; ENSEMBL ID: ENSG00000161642; HGNC ID: 17521
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ZNF385A|25946|nucleotide
ATGATCCTCGGCAGCCTGAGCCGGGCAGGGCCCCTGCCTCTGCTACGGCAGCCCCCGATCATGCAGCCCCCACTGGACCTCAAGCAGATCCTGCCCTTCCCACTC
GAGCCAGCCCCTACCCTTGGCCTCTTCAGCAACTACAGCACCATGGACCCTGTGCAGAAGGCTGTGCTCTCCCACACTTTTGGGGGACCCTTGCTCAAGACCAAG
CGGCCCGTCATTTCCTGTAATATCTGTCAAATCCGCTTCAATTCTCAGAGCCAGGCTGAGGCGCACTACAAAGGTAATCGCCACGCCCGACGAGTCAAAGGCATT
GAGGCTGCCAAGACCAGAGGCAGGGAGCCTGGCGTCCGAGAACCTGGAGACCCAGCTCCCCCAGGCAGCACCCCAACAAATGGGGATGGTGTAGCACCCCGTCCA
GTTTCCATGGAGAATGGACTGGGGCCAGCCCCAGGATCCCCAGAGAAACAGCCTGGCTCCCCATCCCCTCCCAGCATTCCGGAGACTGGTCAGGGTGTAACCAAG
GGTGAAGGGGGGACTCCAGCCCCGGCTTCCTTGCCTGGGGGTAGCAAGGAAGAGGAGGAGAAAGCCAAGCGGCTGCTCTACTGTGCTCTGTGCAAGGTGGCTGTG
AACTCCCTGTCCCAGCTTGAGGCACATAACAAAGGTACTAAGCACAAGACAATTCTGGAGGCCCGAAGTGGGCTCGGGCCCATCAAAGCTTACCCTCGGCTGGGG
CCTCCCACCCCGGGGGAACCAGAGGCTCCTGCCCAGGACCGAACTTTCCACTGTGAGATCTGCAATGTCAAGGTCAACTCGGAGGTCCAACTGAAACAGCACATC
TCCAGCCGGCGGCACCGAGACGGCGTGGCCGGGAAGCCCAACCCACTACTGAGCCGTCACAAGAAGTCTAGGGGCGCCGGGGAGCTGGCGGGCACGCTGACTTTC
TCCAAGGAGCTGCCCAAGTCCCTGGCGGGCGGCCTGCTCCCCAGCCCCCTGGCGGTGGCTGCAGTGATGGCAGCGGCAGCAGGCTCGCCGCTGTCCCTGCGCCCG
GCTCCAGCCGCACCTCTTCTCCAGGGACCGCCGATCACTCACCCTCTGCTTCACCCGGCCCCCGGACCCATCCGAACTGCGCACGGACCCATCCTCTTCTCCCCG
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>ZNF385A|25946|protein
MILGSLSRAGPLPLLRQPPIMQPPLDLKQILPFPLEPAPTLGLFSNYSTMDPVQKAVLSHTFGGPLLKTKRPVISCNICQIRFNSQSQAEAHYKGNRHARRVKGI
EAAKTRGREPGVREPGDPAPPGSTPTNGDGVAPRPVSMENGLGPAPGSPEKQPGSPSPPSIPETGQGVTKGEGGTPAPASLPGGSKEEEEKAKRLLYCALCKVAV
NSLSQLEAHNKGTKHKTILEARSGLGPIKAYPRLGPPTPGEPEAPAQDRTFHCEICNVKVNSEVQLKQHISSRRHRDGVAGKPNPLLSRHKKSRGAGELAGTLTF
SKELPKSLAGGLLPSPLAVAAVMAAAAGSPLSLRPAPAAPLLQGPPITHPLLHPAPGPIRTAHGPILFSPY

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Evidence summary Top

Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
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) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 3 (3)
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
Linkage Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Spence, 2006 USA microsatellite-based genomic screenASD 133 - 133 - 280 - -
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
Microarray Studies: 1
Reference Source Tissue #Subjects
(% Women)
ADI-R ADOS Endo- pheno Diagnosis Normal Controls
(% Women)
Fold Change Up/ Down P/Q value
Voineagu, 2011_1 Unknown 16 frontal cortex(BA9) and 13 temporal cortex(BA41 16
(25.00%)
-autism 16
(6.25%)
1.06443 Up 40.9452
  • Platform: Illumina Ref8 v3 microarrays
  • ProbeSet: ILMN_1786722
  • RefSeq_ID/ EST: -
  • GEO_ID: GSE28521
  • Statistic Method: SAM package and unless otherwise specified the significance threshold was FDR,0.05 and fold changes.1.3.
Proteomics Studies:0
Reference Source Tissue Platform #Subjects
(% Women)
ADI-R ADOS Diagnosis Normal Controls(% Women)
No Evidence.
NGS de novo Mutation Studies Top
NGS Mosaic SNV Studies Top
NGS Other Studies Top
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