Evidence Details for KDM6A
Basic Information Top
Gene Symbol: | KDM6A ( DKFZp686A03225,MGC141941,UTX,bA386N14.2 ) |
---|---|
Gene Full Name: | lysine (K)-specific demethylase 6A |
Band: | Xp11.3 |
Quick Links | Entrez 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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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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MKSCGVSLATAAAAAAAFGDEEKKMAAGKASGESEEASPSLTAEEREALGGLDSRLFGFVRFHEDGARTKALLGKAVRCYESLILKAEGKVESDFFCQLGHFNLL
LEDYPKALSAYQRYYSLQSDYWKNAAFLYGLGLVYFHYNAFQWAIKAFQEVLYVDPSFCRAKEIHLRLGLMFKVNTDYESSLKHFQLALVDCNPCTLSNAEIQFH
IAHLYETQRKYHSAKEAYEQLLQTENLSAQVKATVLQQLGWMHHTVDLLGDKATKESYAIQYLQKSLEADPNSGQSWYFLGRCYSSIGKVQDAFISYRQSIDKSE
ASADTWCSIGVLYQQQNQPMDALQAYICAVQLDHGHAAAWMDLGTLYESCNQPQDAIKCYLNATRSKSCSNTSALAARIKYLQAQLCNLPQGSLQNKTKLLPSIE
EAWSLPIPAELTSRQGAMNTAQQNTSDNWSGGHAVSHPPVQQQAHSWCLTPQKLQHLEQLRANRNNLNPAQKLMLEQLESQFVLMQQHQMRPTGVAQVRSTGIPN
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Evidence summary Top
Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
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, qPCR | ASD | - | - | - | - | 996 | 1287 | 2283 | ||
Edens, 2011 | Austria | FISH, aCGH | autism | - | - | - | - | 1 | - | 1 | ||
Edens, 2011 | Honduras | aCGH | autism | - | - | - | - | 1 | - | 1 |
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
Reference | Case Number | Family Number | de novo Number | Title |
---|---|---|---|---|
C Yuen RK, 2017 | 1625 | - | 237 | Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder. |
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top
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