AutismKB 2.0

Evidence Details for ZNF417


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Basic Information Top
Gene Symbol:ZNF417 ( MGC34079 )
Gene Full Name: zinc finger protein 417
Band: 19q13.43
Quick LinksEntrez ID:147687; OMIM: NA; Uniprot ID:ZN417_HUMAN; ENSEMBL ID: ENSG00000173480; HGNC ID: 20646
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ZNF417|147687|nucleotide
ATGGCAGCGGCTGCGCCGAGGCGCCCGACTCAGCAGGGCACTGTGACCTTTGAAGATGTGGCTGTGAACTTTTCCCAGGAGGAGTGGTGTCTTCTTAGTGAGGCT
CAGAGGTGCTTGTACCGTGATGTGATGCTAGAGAACCTGGCTCTCATATCCTCGCTGGGTTGTTGGTGTGGATCAAAAGATGAGGAGGCACCTTGTAAGCAGAGA
ATTTCTGTACAAAGAGAGTCTCAGAGCAGGACTCCTAGGGCAGGTGTTTCTCCTAAGAAGGCTCACCCCTGTGAAATGTGTGGCCTCATCTTGGAGGATGTTTTT
CACTTTGCTGACCACCAGGAAACTCATCACAAGCAGAAGCTGAACAGGAGTGGAGCATGTGGAAAAAACTTGGATGACACTGCATACCTTCATCAGCACCAGAAG
CAGCATATTGGAGAGAAATTCTACAGAAAGAGTGTCAGAGAAGCATCGTTTGTAAAGAAACGTAAGCTCAGGGTGTCACAGGAGCCATTTGTCTTCCGCGAGTTT
GGGAAGGACGTTCTGCCCAGTTCAGGATTGTGCCAAGAAGCAGCTGCTGTAGAGAAGACAGACAGTGAAACTATGCATGGCCCACCCTTTCAGGAGGGAAAAACT
AATTACAGTTGTGGAAAACGCACAAAAGCCTTCAGCACCAAACACTCAGTTATTCCACACCAGAAACTTTTCACTAGAGATGGATGTTATGTGTGCAGTGATTGT
GGAAAATCCTTTAGCAGATATGTCAGCTTCAGTAATCATCAGCGAGATCACACTGCAAAAGGACCTTATGATTGTGGAGAGTGTGGGAAATCTTATAGTCGAAAG
AGCAGCCTTATTCAACATCAGCGAGTCCACACTGGAAAGACAGCTTATCCCTGTGAGGAGTGCGGGAAATCTTTTAGTCAGAAGGGCAGCCTTATTAGCCATCAG
CGTGTTCACACTGGAGAAAGGCCTTATGAGTGTAGAGAATATGGGAAATCTTTTGGTCAAAAGGGTAACCTCATTCAACATCAGCAAGGTCACACTGGAGAGAGA
GCTTATCACTGTGGGGAATGTGGGAAATCTTTTCGTCAGAAGTTCTGCTTTATTAACCATCAGCGTGTTCACACTGGAGAAAGGCCTTACAAGTGTGGAGAATGT
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>ZNF417|147687|protein
MAAAAPRRPTQQGTVTFEDVAVNFSQEEWCLLSEAQRCLYRDVMLENLALISSLGCWCGSKDEEAPCKQRISVQRESQSRTPRAGVSPKKAHPCEMCGLILEDVF
HFADHQETHHKQKLNRSGACGKNLDDTAYLHQHQKQHIGEKFYRKSVREASFVKKRKLRVSQEPFVFREFGKDVLPSSGLCQEAAAVEKTDSETMHGPPFQEGKT
NYSCGKRTKAFSTKHSVIPHQKLFTRDGCYVCSDCGKSFSRYVSFSNHQRDHTAKGPYDCGECGKSYSRKSSLIQHQRVHTGKTAYPCEECGKSFSQKGSLISHQ
RVHTGERPYECREYGKSFGQKGNLIQHQQGHTGERAYHCGECGKSFRQKFCFINHQRVHTGERPYKCGECGKSFGQKGNLVQHQRGHTGERPYECKECGKSFRYR
SHLTEHQRLHTGERPYNCRECGKLFNRKYHLLVHERVHTGERPYACEVCGKLFGNKNCVTIHQRIHTGERPYECNECGKSFLSSSALHVHKRVHSGQKPYKCSEC
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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) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (1)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
NGS Mosaic SNV Studies Top
Reference Case Number Family Number Mosaic Number Title
Lim ET, 2017 - 5947 376 Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder
NGS Other Studies Top
Low Scale Gene Studies Top

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Simple Query:


  (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