AutismKB 2.0

Evidence Details for BRD1


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Basic Information Top
Gene Symbol:BRD1 ( BRL,BRPF1,BRPF2,DKFZp686F0325 )
Gene Full Name: bromodomain containing 1
Band: 22q13.33
Quick LinksEntrez ID:23774; OMIM: 604589; Uniprot ID:BRD1_HUMAN; ENSEMBL ID: ENSG00000100425; HGNC ID: 1102
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>BRD1|23774|nucleotide
ATGAGGAGGAAAGGACGATGTCATCGAGGCTCTGCAGCGAGGCATCCTTCTTCCCCATGCAGTGTTAAACACTCCCCTACGCGAGAAACGCTGACCTACGCTCAA
GCTCAAAGGATGGTAGAGATAGAAATTGAAGGGCGCTTGCACAGGATCAGTATTTTTGATCCCCTGGAGATCATATTGGAAGATGACCTCACTGCTCAAGAGATG
AGTGAGTGCAACAGCAACAAGGAAAACAGCGAGCGGCCTCCTGTCTGCTTAAGAACTAAGCGTCACAAAAACAACAGAGTCAAAAAGAAAAACGAGGCCCTCCCC
AGCGCCCACGGCACGCCGGCCTCGGCCAGTGCCCTCCCGGAGCCCAAGGTGCGCATCGTGGAGTACAGCCCTCCGTCCGCCCCCAGGAGGCCTCCTGTGTACTAC
AAGTTCATCGAGAAGTCGGCCGAGGAACTGGACAACGAGGTGGAGTATGACATGGACGAGGAGGACTATGCCTGGCTGGAGATCGTCAATGAGAAGCGCAAGGGC
GACTGCGTCCCCGCCGTGTCGCAGAGCATGTTTGAGTTCCTGATGGACCGCTTCGAGAAGGAGTCGCACTGCGAGAACCAGAAGCAGGGCGAGCAGCAGTCTCTG
ATCGACGAGGACGCCGTGTGCTGCATCTGCATGGACGGGGAGTGTCAGAACAGCAACGTGATCCTCTTCTGCGACATGTGCAACCTGGCCGTGCACCAGGAGTGC
TACGGGGTGCCCTACATCCCCGAGGGCCAGTGGCTCTGCCGCCACTGCCTGCAGTCGCGGGCCCGGCCCGCCGACTGTGTGCTGTGCCCCAACAAGGGTGGTGCC
TTCAAAAAGACAGATGACGACCGCTGGGGTCACGTGGTGTGTGCCCTGTGGATCCCAGAGGTCGGCTTTGCCAACACGGTGTTCATCGAGCCCATCGATGGGGTG
AGGAACATCCCTCCAGCCCGGTGGAAACTGACATGCTACCTCTGTAAGCAGAAGGGCGTGGGTGCCTGCATCCAGTGCCACAAAGCAAACTGCTACACAGCATTC
CATGTGACGTGTGCCCAGAAGGCTGGCCTGTACATGAAAATGGAGCCCGTGAAGGAACTGACTGGCGGTGGCACCACCTTCTCCGTCAGAAAGACCGCTTACTGT
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>BRD1|23774|protein
MRRKGRCHRGSAARHPSSPCSVKHSPTRETLTYAQAQRMVEIEIEGRLHRISIFDPLEIILEDDLTAQEMSECNSNKENSERPPVCLRTKRHKNNRVKKKNEALP
SAHGTPASASALPEPKVRIVEYSPPSAPRRPPVYYKFIEKSAEELDNEVEYDMDEEDYAWLEIVNEKRKGDCVPAVSQSMFEFLMDRFEKESHCENQKQGEQQSL
IDEDAVCCICMDGECQNSNVILFCDMCNLAVHQECYGVPYIPEGQWLCRHCLQSRARPADCVLCPNKGGAFKKTDDDRWGHVVCALWIPEVGFANTVFIEPIDGV
RNIPPARWKLTCYLCKQKGVGACIQCHKANCYTAFHVTCAQKAGLYMKMEPVKELTGGGTTFSVRKTAYCDVHTPPGCTRRPLNIYGDVEMKNGVCRKESSVKTV
RSTSKVRKKAKKAKKALAEPCAVLPTVCAPYIPPQRLNRIANQVAIQRKKQFVERAHSYWLLKRLSRNGAPLLRRLQSSLQSQRSSQQRENDEEMKAAKEKLKYW
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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) 2 (10) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 4 (11)
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
Prasad, 2000 - FISHautism - - - - 1 - 1
Goizet, 2000 - FISHautism - - - - 1 - 1
Wassink, 2001 USA Chromosomal analysis of G-bandautism - - - - 278 - 278
Sebat, 2007 USA aCGHautism 165 118 47 99 195 196 391
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Marshall, 2008 - SNP microarrayASD 427 238 189 - 427 500 927
Zwaag, 2009 - SNP microarrayautism - - - - 105 267 372
Chen, 2011 - FISH, aCGH--autism - - - - 1 - 1
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Yuen RK, 2016 - WGSASD 200 - - - 200 - -
Linkage Studies Top