AutismKB 2.0

Evidence Details for KIAA0649


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Basic Information Top
Gene Symbol:KIAA0649 ( - )
Gene Full Name: KIAA0649
Band: 9q34.3
Quick LinksEntrez ID:9858; OMIM: NA; Uniprot ID:K0649_HUMAN; ENSEMBL ID: ENSG00000196422; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>KIAA0649|9858|nucleotide
ATGTTTCTCATGAACGCTTCTCCAGTGGTTGCTCTCCAGTCCAAATGGGAGGCCTTTGGCCCGCCAGGGAGCTGTAGGTTCCCCAGGTGCTTCTCGGAGGCTGAC
GAGGGCGTGGAGAGCGCGTCGGTGAGCGCCCGGGTGCAGATGCTTATCAGCACTCTGCAGCGCGACGGGGCTGCTCGGGGCACCAGCGATGAGCGCGCCGCACAG
AGGGGCCACAGGGCAGAGGGATGCCACGACGCCAGGCCGGCTGCCAAGCCCACCGTGCACAAGGAGCCACCCGCGTTGGCTGTCTGTGGTCTCGTTGCTGACTTT
GACCCCATGGGGGAGGAGGAAACTACAGACTTTGGCCCGTTGGTGCTAGATTCAGACAGTGATGATTCCGTGGACAGGGACATTGAGGAGGCCATCCAGGAGTAC
CTGAAGGCAAAGAGTGGAGCCGCACAGCCCGGGGCCGGCGGGGCCCAGCCAGGTGCAGCCCAGCCTTCCAGGGCCGCAGGCGGAGGCAGTAGATGTAAGCCGGAA
CCGGCTCACGGCAGTGCCCCGACTGCCCTGTGTCCCCCAAAACTTGTACCTGGATCAGGTGGTGGCCCCGGCAGCCAGGTGGGATCCAGCAAGGACCAGGGCTCC
GCCTCCCCGGTCAGTGTGAGCAGCGATGACTCCTTCGAGCAGAGCATCAGGGCGGAAATAGAACAGTTTCTGAATGAGAAGAGACAGCATGAGACCCAAAAATGT
GATGGGTCAGTGGAGAAGAAACCAGACACAAATGAAAATTCCGCCAAGTCACTCTTGAAATCCCACCAAGAGCCGCCTACAAAGGTGGTGCATCGGCAGGGCCTG
CTGGGCGTCCAGAAGGAGTTTGCCTTCCGCAAACCTCCCCGGTTAGCGAAGATGAACGTCCAGCCCAGAAGCCTCAGGTCCAAGGTCACAACCACGCAGGAGAAC
GAGGGCAGCACGAAGCCGGCAACCCCCTGCCGCCCTTCAGAAGCAGCACAGAATAAAGGTGGGATCAAAAGGAGCGCCAGCGCTGCAAGGAGGGGAAAGCGAGTC
ATGAGTGCGGCACAGGCGTCCGAGGCGTCCGACTCCAGCAGCGACGATGGCATTGAGGAGGCCATCCAGCTGTACCAGCTGCAGAAAACACGCAAGGAGGCCGAC
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>KIAA0649|9858|protein
MFLMNASPVVALQSKWEAFGPPGSCRFPRCFSEADEGVESASVSARVQMLISTLQRDGAARGTSDERAAQRGHRAEGCHDARPAAKPTVHKEPPALAVCGLVADF
DPMGEEETTDFGPLVLDSDSDDSVDRDIEEAIQEYLKAKSGAAQPGAGGAQPGAAQPSRAAGGGSRCKPEPAHGSAPTALCPPKLVPGSGGGPGSQVGSSKDQGS
ASPVSVSSDDSFEQSIRAEIEQFLNEKRQHETQKCDGSVEKKPDTNENSAKSLLKSHQEPPTKVVHRQGLLGVQKEFAFRKPPRLAKMNVQPRSLRSKVTTTQEN
EGSTKPATPCRPSEAAQNKGGIKRSASAARRGKRVMSAAQASEASDSSSDDGIEEAIQLYQLQKTRKEADGDLPQRVQLREERAPDPPAHSTSSATKSALPETHR
KTPSKKKLVATKTMDPGPGGLDTDHAPKLLKETKAPPPASPASRSEFVERSSCRADTSAELMCAEAILDISKTILPAPVEGSDGSLSASPLFYSPNVPSRSDGDS
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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 (3) 0 (0) 2 (2) 0 (0) 0 (0) 0 (0) 0 (0) 4 (6)
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
Gregory, 2009 USA aCGHASD - - - - 119 54 173
Linkage Studies Top