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