AutismKB 2.0

Evidence Details for KIAA0195


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Basic Information Top
Gene Symbol:KIAA0195 ( DKFZp781M1056,FLJ37545,TMEM94 )
Gene Full Name: KIAA0195
Band: 17q25.1
Quick LinksEntrez ID:9772; OMIM: NA; Uniprot ID:K0195_HUMAN; ENSEMBL ID: ENSG00000177728; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>KIAA0195|9772|nucleotide
ATGGACCTGAAGGAGAAGCACCTGGGCGAGCCTCCCTCAGCCCTGGGCCTGTCCACGCGGAAGGCCCTCAGCGTCCTGAAGGAGCAGCTGGAGGCAGTGCTGGAA
GGACATCTCAGGGAGCGGAAGAAGTGTCTGACGTGGAAGGAGGTGTGGAGAAGCAGCTTCCTCCACCACAGTAACCGCTGCTCCTGCTTCCACTGGCCGGGGGCC
TCACTCATGCTACTGGCCGTGCTGCTGCTGCTGGGCTGCTGCGGGGGACAGCCAGCCGGGAGCCGTGGGGTGGGGCTGGTGAATGCCTCGGCCTTGTTCCTGTTA
CTGCTTCTCAACCTTGTGCTCATCGGGCGGCAAGACCGGCTGAAGCGTCGGGAGGTAGAGCGGAGGCTGCGAGGGATCATTGACCAAATCCAAGATGCCCTCAGG
GATGGCAGGGAGATCCAGTGGCCCAGTGCCATGTATCCAGACCTCCACATGCCTTTTGCGCCATCCTGGTCCTTGCACTGGGCCTACAGAGACGGACACCTGGTC
AACCTGCCAGTCAGCCTGCTGGTTGAAGGAGACATCATAGCTTTGAGGCCTGGCCAGGAATCGTTTGCTTCTCTGAGGGGGATCAAGGATGACGAGCACATCGTC
CTGGAGCCGGGAGACCTCTTCCCCCCCTTCTCCCCTCCACCCTCACCCCGGGGAGAAGTGGAGAGAGGGCCACAGAGCCCCCAGCAGCACCGGCTTTTCCGTGTC
CTTGAGACCCCTGTGATTGACAACATCAGATGGTGCCTGGACATGGCCCTGTCCCGACCAGTCACTGCCCTGGACAATGAGCGGTTCACAGTGCAGTCGGTGATG
CTACACTATGCTGTGCCCGTGGTCCTGGCCGGCTTCCTCATCACCAATGCCCTGCGCTTCATCTTCAGTGCCCCGGGGGTCACTTCCTGGCAGTACACCCTCCTC
CAGCTCCAGGTGAATGGCGTCCTGCCCATCCTCCCCCTGCTCTTTCCAGTCCTCTGGGTTCTGGCAACTGCCTGTGGAGAGGCCCGTGTCCTGGCCCAGATGAGC
AAGGCCTCACCCAGCTCCCTGCTGGCTAAGTTCTCAGAGGATACTCTCAGCAGCTATACGGAGGCTGTCTCCTCTCAGGAAATGCTGCGCTGCATTTGGGGCCAC
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>KIAA0195|9772|protein
MDLKEKHLGEPPSALGLSTRKALSVLKEQLEAVLEGHLRERKKCLTWKEVWRSSFLHHSNRCSCFHWPGASLMLLAVLLLLGCCGGQPAGSRGVGLVNASALFLL
LLLNLVLIGRQDRLKRREVERRLRGIIDQIQDALRDGREIQWPSAMYPDLHMPFAPSWSLHWAYRDGHLVNLPVSLLVEGDIIALRPGQESFASLRGIKDDEHIV
LEPGDLFPPFSPPPSPRGEVERGPQSPQQHRLFRVLETPVIDNIRWCLDMALSRPVTALDNERFTVQSVMLHYAVPVVLAGFLITNALRFIFSAPGVTSWQYTLL
QLQVNGVLPILPLLFPVLWVLATACGEARVLAQMSKASPSSLLAKFSEDTLSSYTEAVSSQEMLRCIWGHFLRVLGGTSPTLSHSSSLLHSLGSVTVLCCVDKQG
ILSWPNPSPETVLFFSGKVEPPHSSHEDLTDGLSTRSFCHPEPHERDALLAGSLNNTLHLSNEQERGDWPGEAPKPPEPYSHHKAHGRSKHPSGSNVSFSRDTEG
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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 (1) 1 (1) 0 (0) 0 (0) 0 (2) 0 (0) 0 (0) 0 (0) 4 (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
Bucan, 2009 USA SNP microarrayautism, ASD 912 - 912 - - 1488 1488
Linkage Studies Top