AutismKB 2.0

Evidence Details for KIAA0232


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Basic Information Top
Gene Symbol:KIAA0232 ( - )
Gene Full Name: KIAA0232
Band: 4p16.1
Quick LinksEntrez ID:9778; OMIM: NA; Uniprot ID:K0232_HUMAN; ENSEMBL ID: ENSG00000170871; HGNC ID: 28992
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>KIAA0232|9778|nucleotide
ATGTACCCTATCTGTACAGTTGTTGTGGATGGTTTGCCATCTGAAAGCTCCTCAAGTTCTTATCCAGGCCCTGTGTCTGTTTCTGAAATGTCTCTGCTTCATGCT
TTGGGTCCAGTGCAGACCTGGCTGGGACAAGAGCTCGAGAAATGTGGCATTGATGCCATGATTTACACTCGGTATGTCCTCAGTCTTCTGCTGCATGACAGCTAT
GACTACGACCTGCAGGAACAGGAGAATGACATCTTCCTGGGCTGGGAAAAAGGAGCTTATAAGAAATGGGGAAAGAGTAAGAAAAAATGTTCAGATCTAACTCTA
GAAGAAATGAAAAAACAGGCTGCTGTCCAGTGTCTTCGATCTGCTTCTGATGAAAGCTCTGGTATCGAGACTTTAGTGGAGGAGCTCTGCTCCAGACTGAAAGAC
CTTCAGAGTAAGCAAGAAGAGAAGATTCACAAAAAGTTAGAGGGGTCTCCCTCTCCAGAGGCAGAATTATCCCCTCCAGCAAAGGATCAAGTGGAAATGTACTAT
GAAGCATTTCCACCACTTTCTGAGAAACCAGTTTGCCTGCAAGAAATCATGACTGTGTGGAACAAGTCTAAAGTCTGTTCTTACTCTAGCTCTTCTTCATCATCC
ACAGCCCCACCAGCTAGCACAGATACTTCCTCTCCTAAGGACTGCAACAGTGAAAGTGAAGTCACCAAGGAAAGAAGCAGTGAAGTACCCACCACTGTGCATGAG
AAAACCCAGAGCAAAAGCAAAAACGAGAAGGAAAACAAATTTAGTAATGGCACAATTGAAGAAAAGCCTGCTTTGTACAAAAAGCAAATCCGACATAAACCTGAA
GGAAAGATTCGCCCTCGCTCGTGGTCTTCTGGCTCCAGTGAAGCAGGCTCAAGTTCCAGTGGGAATCAGGGAGAATTAAAAGCATCCATGAAGTATGTTAAAGTA
AGACACAAGGCACGAGAGATTCGAAACAAAAAAGGGCGGAATGGGCAAAGCAGGCTTTCTTTGAAGCACGGTGAAAAGGCTGAAAGGAACATTCATACTGGAAGT
AGTAGCAGTAGCAGCAGTGGTTCTGTCAAACAGCTGTGCAAGCGGGGTAAGAGACCTTTAAAAGAAATAGGGAGAAAAGATCCTGGGAGCACTGAAGGAAAAGAC
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>KIAA0232|9778|protein
MYPICTVVVDGLPSESSSSSYPGPVSVSEMSLLHALGPVQTWLGQELEKCGIDAMIYTRYVLSLLLHDSYDYDLQEQENDIFLGWEKGAYKKWGKSKKKCSDLTL
EEMKKQAAVQCLRSASDESSGIETLVEELCSRLKDLQSKQEEKIHKKLEGSPSPEAELSPPAKDQVEMYYEAFPPLSEKPVCLQEIMTVWNKSKVCSYSSSSSSS
TAPPASTDTSSPKDCNSESEVTKERSSEVPTTVHEKTQSKSKNEKENKFSNGTIEEKPALYKKQIRHKPEGKIRPRSWSSGSSEAGSSSSGNQGELKASMKYVKV
RHKAREIRNKKGRNGQSRLSLKHGEKAERNIHTGSSSSSSSGSVKQLCKRGKRPLKEIGRKDPGSTEGKDLYMENRKDTEYKEEPLWYTEPIAEYFVPLSRKSKL
ETTYRNRQDTSDLTSEAVEELSESVHGLCISNNNLHKTYLAAGTFIDGHFVEMPAVINEDIDLTGTSLCSLPEDNKYLDDIHLSELTHFYEVDIDQSMLDPGASE
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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) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (2)
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
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Linkage Studies Top