AutismKB 2.0

Evidence Details for DRD3


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Basic Information Top
Gene Symbol:DRD3 ( D3DR,ETM1,FET1,MGC149204,MGC149205 )
Gene Full Name: dopamine receptor D3
Band: 3q13.31
Quick LinksEntrez ID:1814; OMIM: 126451; Uniprot ID:DRD3_HUMAN; ENSEMBL ID: ENSG00000151577; HGNC ID: 3024
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>DRD3|1814|nucleotide
ATGGCATCTCTGAGCCAGCTGAGTGGCCACCTGAACTACACCTGTGGGGCAGAGAACTCCACAGGTGCCAGCCAGGCCCGCCCACATGCCTACTATGCCCTCTCC
TACTGCGCGCTCATCCTGGCCATCGTCTTCGGCAATGGCCTGGTGTGCATGGCTGTGCTGAAGGAGCGGGCCCTGCAGACTACCACCAACTACTTAGTAGTGAGC
CTGGCTGTGGCAGACTTGCTGGTGGCCACCTTGGTGATGCCCTGGGTGGTATACCTGGAGGTGACAGGTGGAGTCTGGAATTTCAGCCGCATTTGCTGTGATGTT
TTTGTCACCCTGGATGTCATGATGTGTACAGCCAGCATCCTTAATCTCTGTGCCATCAGCATAGACAGGTACACTGCAGTGGTCATGCCCGTTCACTACCAGCAT
GGCACGGGACAGAGCTCCTGTCGGCGCGTGGCCCTCATGATCACGGCCGTCTGGGTACTGGCCTTTGCTGTGTCCTGCCCTCTTCTGTTTGGCTTTAATACCACA
GGGGACCCCACTGTCTGCTCCATCTCCAACCCTGATTTTGTCATCTACTCTTCAGTGGTGTCCTTCTACCTGCCCTTTGGAGTGACTGTCCTTGTCTATGCCAGA
ATCTATGTGGTGCTGAAACAAAGGAGACGGAAAAGGATCCTCACTCGACAGAACAGTCAGTGCAACAGTGTCAGGCCTGGCTTCCCCCAGCAAACCCTCTCTCCT
GACCCGGCACATCTGGAGCTGAAGCGTTACTACAGCATCTGCCAGGACACTGCCTTGGGTGGACCAGGCTTCCAAGAAAGAGGAGGAGAGTTGAAAAGAGAGGAG
AAGACTCGGAATTCCCTGAGTCCCACCATAGCGCCCAAGCTCAGCTTAGAAGTTCGAAAACTCAGCAATGGCAGATTATCGACATCTTTGAAGCTGGGGCCCCTG
CAACCTCGGGGAGTGCCACTTCGGGAGAAGAAGGCAACCCAAATGGTGGCCATTGTGCTTGGGGCCTTCATTGTCTGCTGGCTGCCCTTCTTCTTGACCCATGTT
CTCAATACCCACTGCCAGACATGCCACGTGTCCCCAGAGCTTTACAGTGCCACGACATGGCTGGGCTACGTGAATAGCGCCCTCAACCCTGTGATCTATACCACC
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>DRD3|1814|protein
MASLSQLSGHLNYTCGAENSTGASQARPHAYYALSYCALILAIVFGNGLVCMAVLKERALQTTTNYLVVSLAVADLLVATLVMPWVVYLEVTGGVWNFSRICCDV
FVTLDVMMCTASILNLCAISIDRYTAVVMPVHYQHGTGQSSCRRVALMITAVWVLAFAVSCPLLFGFNTTGDPTVCSISNPDFVIYSSVVSFYLPFGVTVLVYAR
IYVVLKQRRRKRILTRQNSQCNSVRPGFPQQTLSPDPAHLELKRYYSICQDTALGGPGFQERGGELKREEKTRNSLSPTIAPKLSLEVRKLSNGRLSTSLKLGPL
QPRGVPLREKKATQMVAIVLGAFIVCWLPFFLTHVLNTHCQTCHVSPELYSATTWLGYVNSALNPVIYTTFNIEFRKAFLKILSC

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Evidence summary Top

Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
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 2 (2) 1 (2) 1 (1) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 1 (1) 24 (7)
Syndromic Autism Gene Top
Genome-Wide Association Studies (By Ethnic Group) Top
Family Based Association Studies: 0
Reference Stage Platform #Families Affecteds Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ
(range)
No Evidence.
Case Control Based Association Studies: 2
Reference Stage Platform ASD Cases Normal Controls Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
CAUCASIAN
de Krom, 2008_1 Discovery the 1536 Golden Gate bead array of Illumina (Illumina, San Diego, California). 144
(17.36%)
ASD -
(4-18)
- 404
(-)
-
-
de Krom, 2008_2 Replication Illumina 96 Golden Gate bead array 128
(14.06%)
ASD -
(4-18)
- 273
(-)
-
-
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Shuvarikov A, 2013 - aCGH;FISH--autism - - - - 9 - 9
Fan Y, 2016 China CMA--autism - - - - 3 - 3
Linkage Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Allen-Brady, 2008 - SNP-based genomic screenASD 1 - 1 - 7 22 29
Low Scale Association Studies (by Ethnic Group) Top
Family Based Association Studies: 0
Case Control Based Association Studies: 1
Reference Source Platfrom ASD Cases Normal Controls Result
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
CAUCASIAN
Toma, 2012_1 Spanish SNPlex ASD 17
-
- 350
(16.86%)
-
-
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

Contact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.

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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