AutismKB 2.0

Evidence Details for KDM1B


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Basic Information Top
Gene Symbol:KDM1B ( AOF1,C6orf193,DKFZp686I0412,FLJ33898,FLJ34109,FLJ43328,LSD2,bA204B7.3,dJ298J15.2 )
Gene Full Name: lysine (K)-specific demethylase 1B
Band: 6p22.3
Quick LinksEntrez ID:221656; OMIM: 613081; Uniprot ID:KDM1B_HUMAN; ENSEMBL ID: ENSG00000165097; HGNC ID: 21577
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>KDM1B|221656|nucleotide
ATGGCAACTCCACGGGGGAGGACAAAGAAAAAAGCATCTTTTGATCATTCTCCGGATAGCCTTCCTTTGAGGAGCTCCGGTAGGCAGGCGAAGAAGAAAGCAACA
GAGACAACAGATGAGGATGAAGATGGTGGCTCAGAGAAGAAGTACAGGAAATGTGAAAAGGCAGGCTGTACGGCAACATGTCCTGTGTGCTTTGCAAGTGCTTCT
GAAAGATGTGCCAAAAATGGCTACACCTCCCGATGGTATCATCTCTCCTGTGGGGAACATTTCTGTAATGAATGCTTTGACCATTACTACAGAAGCCATAAGGAT
GGATATGACAAATATACTACATGGAAAAAAATATGGACTAGCAATGGCAAAACCGAACCTAGTCCCAAAGCTTTCATGGCAGACCAGCAACTCCCCTACTGGGTT
CAGTGTACAAAACCTGAGTGTAGAAAATGGAGGCAGCTTACCAAGGAAATCCAGCTTACTCCACAGATAGCCAAGACTTATCGATGCGGTATGAAACCAAATACT
GCTATTAAGCCTGAGACCTCAGATCATTGTTCCCTCCCAGAGGATCTAGAAGCTCTTACTCCTCAGAAATGTATTCCTCACATCATCGTCCGGGGTCTCGTGCGT
ATTCGATGCGTTCAGGAAGTGGAGAGAATACTGTATTTTATGACCAGAAAAGGTCTCATCAACACTGGAGTTCTCAGCGTGGGAGCCGACCAGTATCTTCTCCCT
AAGGACTACCACAATAAATCAGTCATCATTATCGGGGCTGGTCCAGCAGGATTAGCAGCTGCTAGGCAACTGCATAACTTTGGAATTAAGGTGACTGTCCTGGAA
GCCAAAGACAGAATTGGAGGCCGAGTCTGGGATGATAAATCTTTTAAAGGCGTCACAGTGGGAAGAGGAGCTCAGATTGTCAATGGGTGTATTAACAACCCAGTA
GCATTAATGTGTGAACAAGTATCTGCTCGCTCGTGGGACCACAATGAATTCTTTGCCCAGTTTGCTGGTGACCACACTCTGCTAACTCCCGGGTACTCGGTGATA
ATTGAAAAACTGGCAGAAGGGCTTGACATTCAACTCAAATCTCCAGTGCAGTGTATTGATTATTCTGGAGATGAAGTGCAGGTTACCACTACAGATGGCACAGGG
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>KDM1B|221656|protein
MATPRGRTKKKASFDHSPDSLPLRSSGRQAKKKATETTDEDEDGGSEKKYRKCEKAGCTATCPVCFASASERCAKNGYTSRWYHLSCGEHFCNECFDHYYRSHKD
GYDKYTTWKKIWTSNGKTEPSPKAFMADQQLPYWVQCTKPECRKWRQLTKEIQLTPQIAKTYRCGMKPNTAIKPETSDHCSLPEDLEALTPQKCIPHIIVRGLVR
IRCVQEVERILYFMTRKGLINTGVLSVGADQYLLPKDYHNKSVIIIGAGPAGLAAARQLHNFGIKVTVLEAKDRIGGRVWDDKSFKGVTVGRGAQIVNGCINNPV
ALMCEQVSARSWDHNEFFAQFAGDHTLLTPGYSVIIEKLAEGLDIQLKSPVQCIDYSGDEVQVTTTDGTGYSAQKVLVTVPLALLQKGAIQFNPPLSEKKMKAIN
SLGAGIIEKIALQFPYRFWDSKVQGADFFGHVPPSASKRGLFAVFYDMDPQKKHSVLMSVIAGEAVASVRTLDDKQVLQQCMATLRELFKEQEVPDPTKYFVTRW
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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 (1) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (2)
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
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Linkage Studies Top