AutismKB 2.0

Evidence Details for KDM5D


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Basic Information Top
Gene Symbol:KDM5D ( HY,HYA,JARID1D,KIAA0234,SMCY )
Gene Full Name: lysine (K)-specific demethylase 5D
Band: Yq11.223
Quick LinksEntrez ID:8284; OMIM: 426000; Uniprot ID:KDM5D_HUMAN; ENSEMBL ID: ENSG00000012817; HGNC ID: 11115
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>KDM5D|8284|nucleotide
ATGGAACCGGGGTGTGACGAGTTCCTGCCGCCACCGGAGTGCCCGGTTTTTGAGCCTAGCTGGGCTGAATTCCAAGACCCGCTTGGCTACATTGCGAAAATAAGG
CCCATAGCAGAGAAGTCTGGCATCTGCAAAATCCGCCCACCCGCGGATTGGCAGCCTCCTTTTGCAGTAGAAGTTGACAATTTCAGATTTACTCCTCGCGTCCAA
AGGCTAAATGAACTGGAGGCCCAAACTAGAGTGAAATTGAACTATTTGGATCAGATTGCAAAATTCTGGGAAATTCAAGGCTCCTCTTTAAAGATTCCCAATGTG
GAGCGGAAGATCTTGGACCTCTACAGCCTTAGTAAGATTGTGATTGAGGAAGGTGGCTATGAAGCCATCTGCAAGGATCGTCGGTGGGCTCGAGTTGCCCAGCGT
CTCCACTACCCACCAGGCAAAAACATTGGCTCCCTGCTACGATCACATTACGAACGCATTATTTACCCCTATGAAATGTTTCAGTCTGGAGCCAACCATGTGCAA
TGTAACACACACCCGTTTGACAATGAGGTAAAAGATAAGGAATACAAGCCCCACAGCATCCCCCTTAGACAGTCTGTGCAGCCTTCAAAGTTCAGCAGCTACAGT
CGACGGGCAAAAAGGCTACAGCCTGATCCAGAGCCTACAGAGGAGGACATTGAGAAGCATCCAGAGCTAAAGAAGTTACAGATATATGGGCCAGGTCCCAAAATG
ATGGGCTTGGGCCTTATGGCTAAGGATAAGGATAAGACTGTGCATAAGAAAGTCACATGCCCCCCAACTGTTACGGTGAAGGATGAGCAAAGTGGAGGTGGGAAC
GTGTCATCAACATTGCTCAAGCAGCACTTGAGCCTAGAGCCCTGCACTAAGACAACCATGCAACTTCGAAAGAATCACAGCAGTGCCCAGTTTATTGACTCATAT
ATTTGCCAAGTATGCTCCCGTGGGGATGAAGATGATAAGCTTCTTTTCTGTGATGGCTGTGATGACAATTACCACATCTTCTGCTTGTTACCACCCCTTCCTGAA
ATCCCCAGAGGCATCTGGAGGTGCCCAAAATGTATCTTGGCGGAGTGTAAACAGCCTCCTGAAGCTTTTGGATTTGAACAGGCTACCCAGGAGTACAGTTTGCAG
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>KDM5D|8284|protein
MEPGCDEFLPPPECPVFEPSWAEFQDPLGYIAKIRPIAEKSGICKIRPPADWQPPFAVEVDNFRFTPRVQRLNELEAQTRVKLNYLDQIAKFWEIQGSSLKIPNV
ERKILDLYSLSKIVIEEGGYEAICKDRRWARVAQRLHYPPGKNIGSLLRSHYERIIYPYEMFQSGANHVQCNTHPFDNEVKDKEYKPHSIPLRQSVQPSKFSSYS
RRAKRLQPDPEPTEEDIEKHPELKKLQIYGPGPKMMGLGLMAKDKDKTVHKKVTCPPTVTVKDEQSGGGNVSSTLLKQHLSLEPCTKTTMQLRKNHSSAQFIDSY
ICQVCSRGDEDDKLLFCDGCDDNYHIFCLLPPLPEIPRGIWRCPKCILAECKQPPEAFGFEQATQEYSLQSFGEMADSFKSDYFNMPVHMVPTELVEKEFWRLVS
SIEEDVTVEYGADIHSKEFGSGFPVSNSKQNLSPEEKRQSLTVLTRLISSFWAQAVLPPWPPKVLGLQEYATSGWNLNVMPVLDQSVLCHINADISGMKVPWLYV
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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 (0) 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 1 (1)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top