AutismKB 2.0

Evidence Details for KDM6A


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Basic Information Top
Gene Symbol:KDM6A ( DKFZp686A03225,MGC141941,UTX,bA386N14.2 )
Gene Full Name: lysine (K)-specific demethylase 6A
Band: Xp11.3
Quick LinksEntrez ID:7403; OMIM: 300128; Uniprot ID:KDM6A_HUMAN; ENSEMBL ID: ENSG00000147050; HGNC ID: 12637
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>KDM6A|7403|nucleotide
ATGAAATCCTGCGGAGTGTCGCTCGCTACCGCCGCCGCTGCCGCCGCCGCTTTCGGTGATGAGGAAAAGAAAATGGCGGCGGGAAAAGCGAGCGGCGAGAGCGAG
GAGGCGTCCCCCAGCCTGACAGCCGAGGAGAGGGAGGCGCTCGGCGGACTGGACAGCCGCCTCTTTGGGTTCGTGAGATTTCATGAAGATGGCGCCAGGACGAAG
GCCCTACTGGGCAAGGCTGTTCGCTGCTATGAATCTCTAATCTTAAAAGCTGAAGGAAAAGTGGAGTCTGATTTCTTTTGTCAATTAGGTCACTTCAACCTCTTA
TTGGAAGATTATCCAAAAGCATTATCTGCATACCAGAGGTACTACAGTTTACAGTCTGACTACTGGAAGAATGCTGCCTTTTTATATGGTCTTGGTTTGGTCTAC
TTCCATTATAATGCATTTCAGTGGGCAATTAAAGCATTTCAGGAGGTGCTTTATGTTGATCCCAGCTTTTGTCGAGCCAAGGAAATTCATTTACGACTTGGGCTT
ATGTTCAAAGTGAACACAGACTATGAGTCTAGTTTAAAGCATTTTCAGTTAGCTTTGGTTGACTGTAATCCCTGCACTTTGTCCAATGCTGAAATTCAATTTCAC
ATTGCCCACTTATATGAAACCCAGAGGAAATATCATTCTGCAAAAGAAGCTTATGAACAACTTTTGCAGACAGAGAATCTTTCTGCACAAGTAAAAGCAACTGTC
TTACAACAGTTAGGTTGGATGCATCACACTGTAGATCTCCTGGGAGATAAAGCCACCAAGGAAAGCTATGCTATTCAGTATCTCCAAAAGTCCTTGGAAGCAGAT
CCTAATTCTGGCCAGTCCTGGTATTTCCTCGGAAGGTGCTATTCAAGTATTGGGAAAGTTCAGGATGCCTTTATATCTTACAGGCAGTCTATTGATAAATCAGAA
GCAAGTGCAGATACATGGTGTTCAATAGGTGTGCTATATCAGCAGCAAAATCAGCCCATGGATGCTTTACAGGCCTATATTTGTGCTGTACAATTGGACCATGGC
CATGCTGCAGCCTGGATGGACCTAGGCACTCTCTATGAATCCTGCAACCAGCCTCAGGATGCCATTAAATGCTACTTAAATGCAACTAGAAGCAAAAGTTGTAGT
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>KDM6A|7403|protein
MKSCGVSLATAAAAAAAFGDEEKKMAAGKASGESEEASPSLTAEEREALGGLDSRLFGFVRFHEDGARTKALLGKAVRCYESLILKAEGKVESDFFCQLGHFNLL
LEDYPKALSAYQRYYSLQSDYWKNAAFLYGLGLVYFHYNAFQWAIKAFQEVLYVDPSFCRAKEIHLRLGLMFKVNTDYESSLKHFQLALVDCNPCTLSNAEIQFH
IAHLYETQRKYHSAKEAYEQLLQTENLSAQVKATVLQQLGWMHHTVDLLGDKATKESYAIQYLQKSLEADPNSGQSWYFLGRCYSSIGKVQDAFISYRQSIDKSE
ASADTWCSIGVLYQQQNQPMDALQAYICAVQLDHGHAAAWMDLGTLYESCNQPQDAIKCYLNATRSKSCSNTSALAARIKYLQAQLCNLPQGSLQNKTKLLPSIE
EAWSLPIPAELTSRQGAMNTAQQNTSDNWSGGHAVSHPPVQQQAHSWCLTPQKLQHLEQLRANRNNLNPAQKLMLEQLESQFVLMQQHQMRPTGVAQVRSTGIPN
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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 (2) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (3)
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
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Edens, 2011 Honduras aCGHautism - - - - 1 - 1
Edens, 2011 Austria FISH, aCGHautism - - - - 1 - 1
Linkage Studies Top