AutismKB 2.0

Evidence Details for KIAA0753


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Basic Information Top
Gene Symbol:KIAA0753 ( MGC130040,MGC130041 )
Gene Full Name: KIAA0753
Band: 17p13.1
Quick LinksEntrez ID:9851; OMIM: NA; Uniprot ID:K0753_HUMAN; ENSEMBL ID: ENSG00000198920; HGNC ID: 29110
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>KIAA0753|9851|nucleotide
ATGGGACCAGGCCAGCCAGCTTCAACCTGTGTTCATCTAGCACCTAGGACCCAACTTGATGGGAGGAGCGACCCCAAAGTACTTCAGACCCAGAACCAGCTGCAG
TTTAATAGGAATGTTCCTACACATTCAAGCAACTTGGCGATCCGATATTCTTGCCCACATGCCATTAGAATTGAAAAACTGAAGCACTCATACAATGAATCATAC
CATTGTAAAGATGCAGATTGTAGAGTTGGTCCTGACCTGGGCAGTTCTGTTTCATTTTCCGTCATATCCCAAGAGAGACTTAGCTATGCTGTCCACCTAGCCAGA
AGAGATGTGAAACGAAGACAATTTGAAAAACATATAAAAGAACATCATCTCAGAAGTCAGCCTCAAAGCTCTCAGAAGTGTGGACATACTAAGTATAAAATACCC
GACCACAGGGTGGAAAGGAAGGAATCAAAGAGTCAAGCAGCCTGTCAGTGTAGCCACCAGCCATCCAAAGTAGAAATCTCCAGCTCTGGTGCCAAAGTATACCTT
TACTCATCTCATCCAGGCCAGTCAGATCTTACTGTGCCAAATTCGCCACCCACCCATGATCCGGGACTTCAGCCTCATCCCAGGATAGGTGACCACAAAAACATA
AGTGAACAGAAAAGCCTGCTAGAAGTCCAGCGACTCCAGAAAGAACTGAGCAGTTGTATCCACAAAATTGAAGAGGTAACTAAAAAAGATAGACTAGAAGAAGCT
TTGGATCCAGATGAAGAACGTCGAATCCGTATCAGGAGACAGGAGCAAGCTGCTCGCTCTGCCCGAATGCTCTACGTCCTCCAGCAGCAGGTAAAAGAAATCCAG
GAAGAATTGGATAAATTGAGTCCACATAAAATTAAACACACTAAGAAGTCATGGGCAATGTCTAAGCTGGCGGCTGCCCATCGAGGAGCCATTCGGGCCTTACAG
ATGTTTGTCACTCAGTTTACTGACCGAGGGGAGCATCCACTTCCTGCTCGGTGTAAGGAACTGGGCAGCCTTATTCGCCAGCTTTCACTTTGTTCTGTCAAGCTG
GATGCAGACCCTTCTGTTCCTGATGTGGTTATAGATATTCTGCAACAAATTGAGGCTTTGGAATCTCTCCTGGAAAAGAAACTGTCACCAAAAAAGGTGAAAAAA
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>KIAA0753|9851|protein
MGPGQPASTCVHLAPRTQLDGRSDPKVLQTQNQLQFNRNVPTHSSNLAIRYSCPHAIRIEKLKHSYNESYHCKDADCRVGPDLGSSVSFSVISQERLSYAVHLAR
RDVKRRQFEKHIKEHHLRSQPQSSQKCGHTKYKIPDHRVERKESKSQAACQCSHQPSKVEISSSGAKVYLYSSHPGQSDLTVPNSPPTHDPGLQPHPRIGDHKNI
SEQKSLLEVQRLQKELSSCIHKIEEVTKKDRLEEALDPDEERRIRIRRQEQAARSARMLYVLQQQVKEIQEELDKLSPHKIKHTKKSWAMSKLAAAHRGAIRALQ
MFVTQFTDRGEHPLPARCKELGSLIRQLSLCSVKLDADPSVPDVVIDILQQIEALESLLEKKLSPKKVKKCFSEIRSRFPIGSQKALERWPSTSPKGERRPLTAK
DTFPQETSRPSVAKQLLADKYQPDTELPETQRLQSELDVLDADIVLEEGPFILDQSASFKDEVLAVAKTKAGKKKPVTENVPFRKKDTLAPARQQGLRKAERGRQ
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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 (3) 1 (1) 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 12 (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
Bremer, 2011 - aCGHASD - - - - 223 - 223
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top