AutismKB 2.0

Evidence Details for BRPF1


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Basic Information Top
Gene Symbol:BRPF1 ( BR140 )
Gene Full Name: bromodomain and PHD finger containing, 1
Band: 3p25.3
Quick LinksEntrez ID:7862; OMIM: 602410; Uniprot ID:BRPF1_HUMAN; ENSEMBL ID: ENSG00000156983; HGNC ID: 14255
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>BRPF1|7862|nucleotide
ATGGGGGTGGACTTTGATGTGAAGACTTTCTGCCACAACTTGCGGGCGACTAAGCCACCATACGAGTGCCCGGTGGAGACCTGCCGAAAGGTCTACAAGAGTTAC
AGTGGTATTGAGTACCACCTGTACCACTATGACCACGACAACCCACCACCCCCACAACAAACTCCACTCCGCAAGCACAAGAAAAAGGGGCGCCAGTCACGCCCA
GCCAACAAGCAGTCACCCAGCCCCTCAGAGGTCTCACAGTCACCAGGCCGTGAGGTGATGAGCTATGCACAGGCCCAGCGCATGGTGGAGGTGGACTTGCATGGC
CGCGTCCACCGCATCAGCATCTTTGACAACCTGGATGTGGTGTCAGAGGATGAGGAAGCCCCCGAGGAGGCCCCTGAGAATGGCAGCAACAAGGAGAACACTGAG
ACACCAGCTGCTACTCCCAAGTCAGGCAAACATAAGAACAAGGAGAAGCGCAAGGACTCCAACCATCACCACCACCACAATGTTTCTGCGAGCACCACTCCCAAG
CTGCCAGAGGTGGTCTATCGGGAGCTGGAACAGGACACCCCTGATGCCCCACCCCGGCCAACTTCCTATTACCGGTACATCGAGAAGTCTGCAGAGGAGCTGGAC
GAGGAAGTAGAGTATGACATGGACGAGGAGGACTACATCTGGCTGGATATCATGAATGAGCGTCGGAAGACAGAGGGTGTAAGTCCCATCCCGCAGGAGATCTTT
GAGTACCTAATGGACCGACTGGAGAAGGAGTCGTACTTTGAGAGTCATAATAAAGGCGACCCTAATGCGCTAGTGGACGAGGATGCTGTTTGCTGTATCTGCAAT
GATGGTGAGTGCCAGAACAGCAATGTCATCCTCTTCTGTGACATGTGCAACCTGGCCGTGCACCAGGAGTGCTACGGTGTCCCCTATATCCCTGAGGGCCAGTGG
CTGTGCCGCCGTTGCCTGCAGTCACCCTCTCGTGCTGTGGATTGTGCCCTGTGCCCCAACAAGGGCGGTGCCTTCAAGCAGACAGATGACGGGCGCTGGGCCCAT
GTGGTGTGTGCCTTGTGGATCCCTGAGGTCTGCTTCGCCAACACGGTCTTCCTAGAGCCTATTGACAGCATTGAGCACATCCCACCAGCTCGCTGGAAGCTCACC
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>BRPF1|7862|protein
MGVDFDVKTFCHNLRATKPPYECPVETCRKVYKSYSGIEYHLYHYDHDNPPPPQQTPLRKHKKKGRQSRPANKQSPSPSEVSQSPGREVMSYAQAQRMVEVDLHG
RVHRISIFDNLDVVSEDEEAPEEAPENGSNKENTETPAATPKSGKHKNKEKRKDSNHHHHHNVSASTTPKLPEVVYRELEQDTPDAPPRPTSYYRYIEKSAEELD
EEVEYDMDEEDYIWLDIMNERRKTEGVSPIPQEIFEYLMDRLEKESYFESHNKGDPNALVDEDAVCCICNDGECQNSNVILFCDMCNLAVHQECYGVPYIPEGQW
LCRRCLQSPSRAVDCALCPNKGGAFKQTDDGRWAHVVCALWIPEVCFANTVFLEPIDSIEHIPPARWKLTCYICKQRGSGACIQCHKANCYTAFHVTCAQQAGLY
MKMEPVRETGANGTSFSVRKTAYCDIHTPPGSARRLPALSHSEGEEDEDEEEDEGKGWSSEKVKKAKAKSRIKMKKARKILAEKRAAAPVVSVPCIPPHRLSKIT
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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) 1 (3) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 3 (5)
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
Bremer, 2011 - aCGHASD - - - - 223 - 223
Linkage Studies Top