AutismKB 2.0

Evidence Details for ANKS3


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Basic Information Top
Gene Symbol:ANKS3 ( FLJ32345,FLJ32767,KIAA1977 )
Gene Full Name: ankyrin repeat and sterile alpha motif domain containing 3
Band: 16p13.3
Quick LinksEntrez ID:124401; OMIM: NA; Uniprot ID:ANKS3_HUMAN; ENSEMBL ID: ENSG00000168096; HGNC ID: 29422
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ANKS3|124401|nucleotide
ATGTCCGAGCTCAGCGATGAAGCCAGCGAGCCGGAACTCCTGAACCGCAGCTTGTCCATGTGGCACGGGCTCGGGACACAGGTCAGCGGGGAGGAGCTGGATGTC
CCCCTGGATCTTCACACAGCTGCTTCCATTGGCCAGTATGAAGTGGTGAAGGAGTGTGTGCAGCGGAGAGAGTTAGATTTGAATAAGAAGAATGGTGGTGGCTGG
ACCCCGCTGATGTATGCCTCCTACATTGGCCACGACACAATCGTGCACCTGCTGCTTGAGGCGGGGGTGAGTGTGAATGTGCCGACCCCAGAAGGGCAGACTCCA
CTGATGCTGGCCTCCAGCTGTGGCAACGAGAGCATCGCCTACTTTCTTCTCCAGCAAGGTGCAGAGCTAGAAATGAAAGACATCCAGGGCTGGACAGCCCTCTTC
CACTGTACCAGCGCCGGGCACCAGCACATGGTCAGGTTCCTCTTGGACAGTGGAGCCAATGCCAACGTGAGGGAGCCGATATGTGGATTTACTCCCTTGATGGAA
GCAGCTGCTGCTGGCCATGAGATAATCGTGCAGTATTTTCTGAATCACGGAGTCAAGGTGGACGCGAGAGACCACAGTGGAGCCACAGCCCGGATGCTGGCCAAG
CAGTACGGACACATGAAGATCGTGGCCTTGATGGACACTTACTCGCCCTCTCTGCCCAAGAGCCTCTATCGGAGCCCAGAAAAGTACGAAGATCTGAGCTCTTCT
GACGAGTCCTGCCCTGCTCCTCAGAGACAGAGGCCTTGCCGGAAGAAGGGTGTCAGCATCCACGAGGGACCGCGAGCCCTGGCCAGGATCACAGGCATTGGCCTG
GGCGGCAGAGCCCCACGGCCTCGCTATGAGCAGGCTCCTCCCCGTGGCTATGTCACCTTCAACAGCAGTGGCGAGAACCCCCTGGAAGAAGAGGGCCTCTGCTGC
CGGGATGTCACCTCCCCCATCAATGAGCGGGATGTGGAGAGCAGCAGCAGCAGCAGCAGTCGGGAGGAACATGCTTTCTGTGCCAACCTGGGGCCCGTCCAGAGC
AGCAGCAGCAGCGAGGGCCTGGCCAGAGCCCAGGGGCTCAGCAGCGAAGCTTCTGTGGAGAGCAACGAGGACTCGGATCATGCCTGTAAAAGCTCAGCTCGCAAA
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>ANKS3|124401|protein
MSELSDEASEPELLNRSLSMWHGLGTQVSGEELDVPLDLHTAASIGQYEVVKECVQRRELDLNKKNGGGWTPLMYASYIGHDTIVHLLLEAGVSVNVPTPEGQTP
LMLASSCGNESIAYFLLQQGAELEMKDIQGWTALFHCTSAGHQHMVRFLLDSGANANVREPICGFTPLMEAAAAGHEIIVQYFLNHGVKVDARDHSGATARMLAK
QYGHMKIVALMDTYSPSLPKSLYRSPEKYEDLSSSDESCPAPQRQRPCRKKGVSIHEGPRALARITGIGLGGRAPRPRYEQAPPRGYVTFNSSGENPLEEEGLCC
RDVTSPINERDVESSSSSSSREEHAFCANLGPVQSSSSSEGLARAQGLSSEASVESNEDSDHACKSSARKQAKSYMKTKNPDSQWPPRAATDREGFLAESSPQTQ
RAPYSGPQDLAALLEQIGCLKYLQVFEEQDVDLRIFLTLTESDLKEIGITLFGPKRKMTSAIARWHSSARPPGDALELAYADRLEAEMQELAIQLHKRCEEVEAT
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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) 1 (2) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 2 (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
Bremer, 2011 - aCGHASD - - - - 223 - 223
Linkage Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Buxbaum, 2004 USA microsatellite-based genomic screenautism 115 - 115 - - - -
Lauritsen, 2006 Faroe Islands microsatellite-based genomic screenautism - - - - 12 44 56
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Reference Source Platform ADI-R ADOS Diagnosis Family Affected Validation Method
Total Simplex Multiplex
Bi C, 2012 China GAII- - - - 67 -
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