AutismKB 2.0

Evidence Details for KIAA0528


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Basic Information Top
Gene Symbol:KIAA0528 ( DKFZp779N2044 )
Gene Full Name: KIAA0528
Band: 12p12.1
Quick LinksEntrez ID:9847; OMIM: NA; Uniprot ID:K0528_HUMAN; ENSEMBL ID: ENSG00000111731; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>KIAA0528|9847|nucleotide
ATGCCAGGGAAGCTGAAGGTGAAAATCGTGGCCGGGCGCCATTTGCCAGTGATGGACCGTGCTAGTGACCTGACTGATGCCTTCGTGGAGGTAAAATTTGGTAAT
ACCACCTTTAAAACAGATGTGTACCTTAAGTCACTCAACCCTCAGTGGAACTCGGAGTGGTTTAAATTTGAGGTGGATGATGAAGACTTACAAGATGAACCTTTA
CAGATCACAGTTCTTGACCATGATACTTACAGTGCAAATGATGCCATTGGTAAAGTGTACATTGATATTGATCCTTTACTGTATAGTGAAGCTGCAACAGTCATC
TCAGGATGGTTTCCAATTTATGACACCATACATGGTATCCGTGGGGAAATCAATGTAGTTGTCAAAGTAGACCTCTTCAATGATTTAAATCGATTTAGGCAGTCA
TCATGTGGAGTCAAATTCTTTTGCACAACGTCTATTCCAAAATGCTATAGAGCTGTGATAATTCATGGATTTGTAGAAGAACTTGTGGTCAATGAAGACCCAGAA
TATCAGTGGATTGATCGAATTCGCACACCAAGGGCATCAAATGAGGCCAGACAGAGACTCATTTCGTTAATGTCAGGTGAGCTGCAGAGGAAGATTGGCTTGAAA
GTACTTGAAATGAGAGGAAATGCAGTTGTGGGGTACTTACAGTGTTTCGATCTGGAGGGCGAGTCTGGGTTAGTGGTGCGAGCCATAGGAACGGCGTGTACTCTG
GATAAATTAAGTAGCCCAGCAGCATTCCTTCCTGCATGTAATTCCCCATCCAAAGAAATGAAGGAGATTCCCTTCAATGAAGATCCCAATCCCAATACTCACTCA
TCAGGACCCTCAACCCCTCTGAAAAACCAAACTTATTCCTTTTCACCTTCCAAGTCCTACAGTCGACAGTCCTCTTCTTCTGACACAGATTTGAGTTTGACACCC
AAAACTGGAATGGGAAGTGGTAGTGCTGGAAAAGAAGGGGGGCCCTTTAAAGCTCTTTTAAGACAACAGACTCAATCAGCGTTGGAACAGAGGGAATTTCCATTT
TTTACCTTGACGGCATTTCCTCCTGGATTCCTTGTACACGTTGGGGGTGTAGTTAGTGCACGTTCTGTGAAGCTTTTGGATCGTATCCACAATCCTGATGAACCA
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>KIAA0528|9847|protein
MPGKLKVKIVAGRHLPVMDRASDLTDAFVEVKFGNTTFKTDVYLKSLNPQWNSEWFKFEVDDEDLQDEPLQITVLDHDTYSANDAIGKVYIDIDPLLYSEAATVI
SGWFPIYDTIHGIRGEINVVVKVDLFNDLNRFRQSSCGVKFFCTTSIPKCYRAVIIHGFVEELVVNEDPEYQWIDRIRTPRASNEARQRLISLMSGELQRKIGLK
VLEMRGNAVVGYLQCFDLEGESGLVVRAIGTACTLDKLSSPAAFLPACNSPSKEMKEIPFNEDPNPNTHSSGPSTPLKNQTYSFSPSKSYSRQSSSSDTDLSLTP
KTGMGSGSAGKEGGPFKALLRQQTQSALEQREFPFFTLTAFPPGFLVHVGGVVSARSVKLLDRIHNPDEPETRDAWWAEIRQEIKSHAKALGCHAVVGYSESTSI
CEEVCILSASGTAAVLNPRFLQDGTVEGCLEQRLEENLPTRCGFCHIPYDELNMPFPAHLTYCYNCRKQKVPDVLFTTIDLPTDATVIGKGCLIQARLCRLKKKA
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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 (3) 1 (1) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 5 (5)
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
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top