AutismKB 2.0

Evidence Details for KIAA2022


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Basic Information Top
Gene Symbol:KIAA2022 ( - )
Gene Full Name: KIAA2022
Band: Xq13.3
Quick LinksEntrez ID:340533; OMIM: 300524; Uniprot ID:K2022_HUMAN; ENSEMBL ID: ENSG00000050030; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>KIAA2022|340533|nucleotide
ATGGATAACCAACAAGATAAGGCTATTGTTGCCTCAGCCAACGGAGAAAACACTCTGATTAATGGGGTCAAAGAAAATGACTCAGAGGACCAGGATGTGGCAATG
AAGTCATTTGCAGCTCTAGAAGCTGCTGCACCTATCCAGCCTACACCGGTGGCACAAAAAGAGACCCTGATGTATCCCAGAGGTCTCCTGCCTCTACCCTCTAAG
AAGCCCTGTATGCAGAGCCCGCCCTCTCCTTTGGGCCTGATTGAAGCACCCGAACATGCTGCTAATAGTGCTTCTGTGAATGCCATCTCCCTCACATCTGGCATT
GCAAAAGGCCTGAACACATGGTCACTTCCCAATGAATGTGAGAAAGCTCCATTTGCCATAATGGAGCCTGCAGGCATGTCAGCTCTGAATGGGGACTGTCTCATG
CAGCCAAGTCGGACTTGCTTAGGCTGCTTCATGGAATCCAAGGATGCAGTAGATCCTGAGCCAGGGATCAGTCTGAAAGTTGGTGATCTAAATAGGGATTATGAA
ACGTGTGCAGTCTCTGATATAGGGATTCAGTGTATTAATGCTGGAGAAAATATGAAATATGGAGAGCAGCTGCTCTCAGACCAGCTCCTAGGCTTCCCCCTGCAT
AAGTCAAGGGCAGGAGACAGACGAGAAACTGAGAAACCTGACATTGACTTGGAGGATCCGGCTCAGAAAAGCTATTATGAGGCATTACTGTTAGACAAGTGCAAT
ACAGAAGAAGCTTTGCTTGCAAATTCCAATCAGGATTGGGGTTACTTCGAGACTTTTATTAGTGAAAGTAAGATTGAACTGCTTGACCTCTGTTCCAAAAATGAG
CTGTCTGTCAACCTATTCTCTGAAGAAGATGTGGATAACTACATGTTTGATGATGATGAATCAACACTAGGCAGTGATGTCTGCTCCCTGAAAATTCGATATGAA
TCCTTTCAGGACAATGTTCGAGACAAGACTACTCTTTTGATGCAGGAAGATGCCCAATTCAACTTTTTTCCCAGCGTCTTTACTACCTGCCCCAAGCGAGAGTCT
AAGAGTGGGGCCCTGAAGCAGAGCAGTGATTTTTCCCAATTCAAGGTCCCTGATGTGAGCATCATCTGGGGGGAGGAAGATAAAAACTTGGACAAGAAGAAAGGC
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>KIAA2022|340533|protein
MDNQQDKAIVASANGENTLINGVKENDSEDQDVAMKSFAALEAAAPIQPTPVAQKETLMYPRGLLPLPSKKPCMQSPPSPLGLIEAPEHAANSASVNAISLTSGI
AKGLNTWSLPNECEKAPFAIMEPAGMSALNGDCLMQPSRTCLGCFMESKDAVDPEPGISLKVGDLNRDYETCAVSDIGIQCINAGENMKYGEQLLSDQLLGFPLH
KSRAGDRRETEKPDIDLEDPAQKSYYEALLLDKCNTEEALLANSNQDWGYFETFISESKIELLDLCSKNELSVNLFSEEDVDNYMFDDDESTLGSDVCSLKIRYE
SFQDNVRDKTTLLMQEDAQFNFFPSVFTTCPKRESKSGALKQSSDFSQFKVPDVSIIWGEEDKNLDKKKGKEEGQEDKGVEKKDGKDNGEKPALNKPCSGTEVEQ
LKNPKQGHLANSLETSGSFSDDSSFIEISYDAMGEIKDCSRYMARDTNSGSSSSQQNYGLRAKRKVRYSEDYLYDVDSLEGEKVNERKEWLPVGSKEEDDDEWCP
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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) Yes 0 (0) 1 (3) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 2 (2) 22 (5)
Syndromic Autism Gene Top
Abbreviations: AD, autosomal dominant; AR, autosomal recessive; ASD, autism spectrum disorder; ID, intellectual disability; XL, X linked.
InheritanceXL
OMIMMental retardation, nonsyndromic, X-linked (300524)
DescriptionX-linked ID, progressive quadriparesia, and autism
Reference(s)15466006;
LevelLevel 2: The gene has been reported in a single family with 2-3 males with ASD/autistic features. Additional evidences are needed.
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
Charzewska A, 2015 Polish aCGH;FISH--autism 1 - 1 - 5 - 5
Siu WK, 2016 Hong Kong aCGHASD - - - - 66 100 166
C Yuen RK, 2017 - WGSASD - - - - 1745 - -
Linkage Studies Top