AutismKB 2.0

Evidence Details for ZNF215


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Basic Information Top
Gene Symbol:ZNF215 ( BAZ-2,BAZ2,ZKSCAN11 )
Gene Full Name: zinc finger protein 215
Band: 11p15.4
Quick LinksEntrez ID:7762; OMIM: 605016; Uniprot ID:ZN215_HUMAN; ENSEMBL ID: ENSG00000149054; HGNC ID: 13007
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ZNF215|7762|nucleotide
ATGCAGCCTCTGAGCAAGTTGATGGCTATCTCAAAACCTCGAAACCTGTCTCTACGTGAACAAAGAGAGGTTCTGAGAGCAGATATGTCTTGGCAGCAGGAAACC
AACCCCGTCGTGGAGACACATGACTCTGAGGCATCTCGTCAAAAGTTCAGACATTTCCAGTATTTGAAAGTGTCTGGGCCCCATGAAGCCCTGAGCCAACTCTGG
GAGCTCTGTCTTCAATGGCTGAGACCAGAGATTCATACAAAGAAGCAGATTATAGAACTGTTGGTGCTGGAACAATTCCTGGCAATCCTGCCTGAAGAAGTCAGG
ACTTGGGTGAATTTACAACATCCAAACAACAGTAAAGATATGGTGACCCTCATAGAAGATGTGATTGAAATGCTTGAAGATGAAGATATGCCCTGCAAGGACTCT
GCCCTGCAGATGGGGAGCATCAAGGAGAAAATGAAAGCTGGCTCACGAACAGGCAAACCACAGGAACCAGTGACATTCAAAGATGTGGTTGTGGAATTCAGCAAG
GAAGAGTGGGGGCAACTGGACTCTGCTGTAAAGAACCTGTACAGGAATGTGATGCTGGAAAACTTTAGGAACCTGAATTCATTGCGTAAAGCACATCTACTTTCC
AAACCATTTGAGAGCCTTAAGTTGGAGAGTAAGAAAAAAAGATGGATAATGGAGAAAGAAATACCAAGGAAGACTATTTTTGACATGAAGAGTATTTCTGGAGAA
GAATCATCCCATGGAGTGATTATGACAAGGCTTACCGAAAGTGGACACCCTTCTTCAGATGCCTGGAAAGGTGAGAATTGGTTATATAGGAACCAGAAAAAATGG
GACATAAATTTGCCACAAGAGGCTTTCATTCCTGAGACAATTTACACTGAGGAGGAAGATTTTGAATGTAGTGAAAATAAGAAAAGCTTTGATATTAATTCAGTT
AGCTCAATTTGTGCTATACAAGTGGGAATTCCTTCAAGAAAGGGGTCTCCAAAATGTGATAAGTTTAAAACTTACTTCAAATTTAATTTAGACTCAGTAGGTAAG
CAACATTCAGAATATGAATATGGGAATGACTTGAGTTTGAGTACAGATATTCGACACCAAAAAAGTCATACTACAATGAATTCCTATGAATGTTATCAATGTGGG
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>ZNF215|7762|protein
MQPLSKLMAISKPRNLSLREQREVLRADMSWQQETNPVVETHDSEASRQKFRHFQYLKVSGPHEALSQLWELCLQWLRPEIHTKKQIIELLVLEQFLAILPEEVR
TWVNLQHPNNSKDMVTLIEDVIEMLEDEDMPCKDSALQMGSIKEKMKAGSRTGKPQEPVTFKDVVVEFSKEEWGQLDSAVKNLYRNVMLENFRNLNSLRKAHLLS
KPFESLKLESKKKRWIMEKEIPRKTIFDMKSISGEESSHGVIMTRLTESGHPSSDAWKGENWLYRNQKKWDINLPQEAFIPETIYTEEEDFECSENKKSFDINSV
SSICAIQVGIPSRKGSPKCDKFKTYFKFNLDSVGKQHSEYEYGNDLSLSTDIRHQKSHTTMNSYECYQCGKAFCRSSSLIRHQIIHTGEKPYKCSECGRFFNRRT
NLTKHQKLHAEAKACTSNKCGKAFSKSEDSNNPTLHFGNNFYQCVNCGKSFNRSSSLIRHQMIHTGEKPFKCKECSKAFNRSSNLVKHQKLHTRDKS
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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) 0 (0) 0 (0) 0 (0) 0 (3) 0 (0) 0 (0) 0 (0) 0 (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
Nord, 2011 US aCGH--ASD - - - - 41 367 408
Linkage Studies Top
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
De Rubeis S, 2014 2270 - 1702 Synaptic, transcriptional and chromatin genes disrupted in autism
Geisheker MR, 2017 - - 36 Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains.
Fromer M, 2014 - - 94 De novo mutations in schizophrenia implicate synaptic networks.
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