AutismKB 2.0

Evidence Details for ASB16


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Basic Information Top
Gene Symbol:ASB16 ( FLJ30165,MGC141876,MGC141877 )
Gene Full Name: ankyrin repeat and SOCS box-containing 16
Band: 17q21.31
Quick LinksEntrez ID:92591; OMIM: NA; Uniprot ID:ASB16_HUMAN; ENSEMBL ID: ENSG00000161664; HGNC ID: 19768
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ASB16|92591|nucleotide
ATGGCAAGAGAGACCTTCCCCTTCACCTCCTCCATGCTGCGCTCTCTCCGCCTGCAGCAGGAGTGGCTGGAATGGGAGGACCGGCGGCGGGCGGCTGCCCAGCAG
TGCCGGAGCCGCAGGTGCCCGTCAAGTCCCCGGGCCCGACTCACTAGGCCTCACCGTTCCTGCCGAGACCCAGCTGTCCACCAAGCCCTCTTCTCCGGCAACCTG
CAGCAGGTCCAAGCCCTGTTCCAAGATGAAGAGGCCGCCAACATGATTGTGGAGACTGTGAGCAACCAGCTGGCCTGGTCGGCTGAACAGGGGTTCTGGGTGCTG
ACCCCCAAGACCAAGCAGACGGCACCCCTCGCCATCGCTACAGCCCGAGGCTACACAGACTGTGCTCGACACCTGATCCGGCAGGGAGCTGAGCTGGATGCCCGT
GTCGGGGGTCGCGCTGCCTTGCATGAGGCCTGTGCCCGAGCCCAGTTTGACTGTGTGCGGCTGCTGCTGACCTTCGGAGCCAAGGCTAATGTGCTGACTGAGGAG
GGCACGACTCCTTTGCACCTCTGCACGATCCCCGAGTCCTTGCAGTGCGCCAAGTTGCTGCTGGAAGCAGGAGCGACGGTGAACCTGGCAGCAGGCGAGAGCCAG
GAGACGCCCCTGCACGTGGCGGCGGCGCGCGGCCTGGAGCAACATGTGGCTCTGTACCTGGAGCATGGCGCCGACGTGGGCCTGCGCACCAGCCAGGGCGAGACT
GCGCTGAACACGGCGTGCGCTGGGGCCGAGGGCCCAGGTAGCTGCAGGCGACACCAGGCTGCGGCGCGCCGGCTCCTGGAGGCTGGAGCTGATGCCCGGGCGGCC
GGGCGCAAGCGCCACACGCCGCTGCACAACGCTTGTGCCAACGGCTGCGGGGGCCTGGCCGAGCTGCTGCTGCGTTACGGGGCCCGCGCTGAGGTCCCCAATGGG
GCGGGCCACACGCCCATGGACTGTGCGCTGCAGGCCGTCCAGGACTCCCCCAACTGGGAGCCTGAAGTCCTTTTCGCCGCACTGCTGGACTACGGGGCGCAGCCA
GTGCGCCCTGAGATGCTGAAACACTGCGCCAACTTCCCTCGGGCCCTGGAAGTCCTGCTTAATGCCTATCCTTGTGTCCCATCCTGTGAGACCTGGGTGGAGGCG
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>ASB16|92591|protein
MARETFPFTSSMLRSLRLQQEWLEWEDRRRAAAQQCRSRRCPSSPRARLTRPHRSCRDPAVHQALFSGNLQQVQALFQDEEAANMIVETVSNQLAWSAEQGFWVL
TPKTKQTAPLAIATARGYTDCARHLIRQGAELDARVGGRAALHEACARAQFDCVRLLLTFGAKANVLTEEGTTPLHLCTIPESLQCAKLLLEAGATVNLAAGESQ
ETPLHVAAARGLEQHVALYLEHGADVGLRTSQGETALNTACAGAEGPGSCRRHQAAARRLLEAGADARAAGRKRHTPLHNACANGCGGLAELLLRYGARAEVPNG
AGHTPMDCALQAVQDSPNWEPEVLFAALLDYGAQPVRPEMLKHCANFPRALEVLLNAYPCVPSCETWVEAVLPELWKEHEAFYSSALCMVNQPRQLQHLARLAVR
ARLGSRCRQGATRLPLPPLLRDYLLLRVEGCIQ
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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) 1 (2) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (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
Berkel, 2010 Canada SNP microarrayASD - - - - 396 5023 5419
Egger G, 2014 Austria Microarray--ASD 73 - - - 245 2357 -
Linkage Studies Top