AutismKB 2.0

Evidence Details for DBP


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Basic Information Top
Gene Symbol:DBP ( DABP )
Gene Full Name: D site of albumin promoter (albumin D-box) binding protein
Band: 19q13.33
Quick LinksEntrez ID:1628; OMIM: 124097; Uniprot ID:DBP_HUMAN; ENSEMBL ID: ENSG00000105516; HGNC ID: 2697
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>DBP|1628|nucleotide
ATGGCGCGGCCTGTGAGCGACAGGACCCCGGCCCCTCTGCTGCTGGGCGGCCCGGCCGGGACACCCCCTGGCGGGGGAGCGCTGCTTGGGTTGCGGAGCCTTCTG
CAGGGGACCAGCAAGCCCAAAGAGCCGGCCAGCTGTCTCCTGAAGGAAAAGGAGCGCAAGGCGGCCCTGCCTGCAGCCACAACCCCTGGGCCAGGCCTGGAGACT
GCGGGCCCGGCGGATGCCCCGGCTGGGGCAGTGGTGGGCGGAGGGTCCCCGCGGGGGCGCCCGGGGCCGGTGCCCGCCCCGGGTCTGTTGGCGCCACTGCTGTGG
GAGCGCACGCTGCCGTTCGGCGATGTGGAGTACGTAGACCTGGACGCCTTCCTGCTGGAGCACGGGCTCCCGCCCAGCCCGCCGCCCCCCGGTGGCCCGTCGCCG
GAGCCGTCGCCCGCGCGGACGCCCGCACCCTCCCCAGGGCCGGGTTCGTGCGGCTCGGCTTCCCCCCGCTCCTCTCCTGGGCACGCCCCCGCCCGGGCTGCCCTC
GGGACCGCCAGCGGCCACCGCGCAGGCCTGACCTCTCGGGACACACCCAGCCCTGTGGACCCAGACACCGTGGAGGTGTTGATGACCTTTGAACCCGACCCAGCT
GATCTTGCCCTATCAAGCATTCCTGGCCACGAGACCTTTGACCCTCGAAGACATCGCTTCTCAGAAGAGGAACTTAAGCCCCAGCCAATCATGAAGAAGGCAAGA
AAAATCCAGGTGCCGGAGGAGCAGAAGGATGAGAAATACTGGAGCCGGCGGTACAAGAACAACGAGGCAGCCAAGCGGTCCCGTGACGCCCGGCGGCTCAAGGAG
AACCAGATATCGGTGCGGGCGGCCTTCCTGGAGAAGGAGAACGCCCTGCTGCGGCAGGAAGTTGTGGCCGTGCGCCAGGAGCTGTCCCACTACCGCGCCGTGCTG
TCCCGATACCAGGCCCAGCACGGGGCCCTGTGA

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>DBP|1628|protein
MARPVSDRTPAPLLLGGPAGTPPGGGALLGLRSLLQGTSKPKEPASCLLKEKERKAALPAATTPGPGLETAGPADAPAGAVVGGGSPRGRPGPVPAPGLLAPLLW
ERTLPFGDVEYVDLDAFLLEHGLPPSPPPPGGPSPEPSPARTPAPSPGPGSCGSASPRSSPGHAPARAALGTASGHRAGLTSRDTPSPVDPDTVEVLMTFEPDPA
DLALSSIPGHETFDPRRHRFSEEELKPQPIMKKARKIQVPEEQKDEKYWSRRYKNNEAAKRSRDARRLKENQISVRAAFLEKENALLRQEVVAVRQELSHYRAVL
SRYQAQHGAL

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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) 1 (1) 0 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 2 (2)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Spence, 2006 USA microsatellite-based genomic screenASD 133 - 133 - 280 - -
Low Scale Association Studies (by Ethnic Group) Top
Family Based Association Studies: 1
Case Control Based Association Studies: 0
Reference Source Platfrom ASD Cases Normal Controls Result
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
No Evidence.
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

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  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018