AutismKB 2.0

Evidence Details for SETDB2


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Basic Information Top
Gene Symbol:SETDB2 ( C13orf4,CLLD8,CLLL8,DKFZp586I0123,DKFZp761J1217,KMT1F )
Gene Full Name: SET domain, bifurcated 2
Band: 13q14.2
Quick LinksEntrez ID:83852; OMIM: 607865; Uniprot ID:SETB2_HUMAN; ENSEMBL ID: ENSG00000136169; HGNC ID: 20263
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SETDB2|83852|nucleotide
ATGGGAGAAAAAAATGGCGATGCAAAAACTTTCTGGATGGAGCTAGAAGATGATGGAAAAGTGGACTTCATTTTTGAACAAGTACAAAATGTGCTGCAGTCACTG
AAACAAAAGATCAAAGATGGGTCTGCCACCAATAAAGAATACATCCAAGCAATGATTCTAGTGAATGAAGCAACTATAATTAACAGTTCAACATCAATAAAGGAT
CCTATGCCTGTGACTCAGAAGGAACAGGAAAACAAATCCAATGCATTTCCCTCTACATCATGTGAAAACTCCTTTCCAGAAGACTGTACATTTCTAACAACAGAA
AATAAGGAAATTCTCTCTCTTGAAGATAAAGTTGTAGACTTTAGAGAAAAAGACTCATCTTCGAATTTATCTTACCAAAGTCATGACTGCTCTGGTGCTTGTCTG
ATGAAAATGCCACTGAACTTGAAGGGAGAAAACCCTCTGCAGCTGCCAATCAAATGTCACTTCCAAAGACGACATGCAAAGACAAACTCTCATTCTTCAGCACTC
CACGTGAGTTATAAAACCCCTTGTGGAAGGAGTCTACGAAACGTGGAGGAAGTTTTTCGTTACCTGCTTGAGACAGAGTGTAACTTTTTATTTACAGATAACTTT
TCTTTCAATACCTATGTTCAGTTGGCTCGGAATTACCCAAAGCAAAAAGAAGTTGTTTCTGATGTGGATATTAGCAATGGAGTGGAATCAGTGCCCATTTCTTTC
TGTAATGAAATTGACAGTAGAAAGCTCCCACAGTTTAAGTACAGAAAGACTGTGTGGCCTCGAGCATATAATCTAACCAACTTTTCCAGCATGTTTACTGATTCC
TGTGACTGCTCTGAGGGCTGCATAGACATAACAAAATGTGCATGTCTTCAACTGACAGCAAGGAATGCCAAAACTTCCCCCTTGTCAAGTGACAAAATAACCACT
GGATATAAATATAAAAGACTACAGAGACAGATTCCTACTGGCATTTATGAATGCAGCCTTTTGTGCAAATGTAATCGACAATTGTGTCAAAACCGAGTTGTCCAA
CATGGTCCTCAAGTGAGGTTACAGGTGTTCAAAACTGAGCAGAAGGGATGGGGTGTACGCTGTCTAGATGACATTGACAGAGGGACATTTGTTTGCATTTATTCA
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>SETDB2|83852|protein
MGEKNGDAKTFWMELEDDGKVDFIFEQVQNVLQSLKQKIKDGSATNKEYIQAMILVNEATIINSSTSIKDPMPVTQKEQENKSNAFPSTSCENSFPEDCTFLTTE
NKEILSLEDKVVDFREKDSSSNLSYQSHDCSGACLMKMPLNLKGENPLQLPIKCHFQRRHAKTNSHSSALHVSYKTPCGRSLRNVEEVFRYLLETECNFLFTDNF
SFNTYVQLARNYPKQKEVVSDVDISNGVESVPISFCNEIDSRKLPQFKYRKTVWPRAYNLTNFSSMFTDSCDCSEGCIDITKCACLQLTARNAKTSPLSSDKITT
GYKYKRLQRQIPTGIYECSLLCKCNRQLCQNRVVQHGPQVRLQVFKTEQKGWGVRCLDDIDRGTFVCIYSGRLLSRANTEKSYGIDENGRDENTMKNIFSKKRKL
EVACSDCEVEVLPLGLETHPRTAKTEKCPPKFSNNPKELTVETKYDNISRIQYHSVIRDPESKTAIFQHNGKKMEFVSSESVTPEDNDGFKPPREHLNSKTKGAQ
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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 (1) 0 (0) 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 12 (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
Steele, 2001 - Chromosomal analysis of G-bandautism - - - - 1 - 1
Linkage Studies Top