AutismKB 2.0

Evidence Details for DHRS4L1


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Basic Information Top
Gene Symbol:DHRS4L1 ( SDR25C4 )
Gene Full Name: dehydrogenase/reductase (SDR family) member 4 like 1
Band: 14q11.2
Quick LinksEntrez ID:728635; OMIM: NA; Uniprot ID:DR4L1_HUMAN; ENSEMBL ID: ; HGNC ID: 19732
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>DHRS4L1|728635|nucleotide
ATGCACAAGGCGCGGCTACGAGGCCACTGTGCCCGGGCAGGGAAGTCGGTGCGGTTGGCCAGCTCCGGGATGACCCGCCGGGACCCGCTCACAAATAAGGTGGCC
CTGGTAACGGCCTCCACCGACTGGATCGGCTTCGCCGTCGCCCAGCGTCTGGCCCAAGACGGGGCCCACGTGGTAGTCAGCCGCCGGAAGCAGCAGAATGTGGAC
CAGGCAGTGGCCACGCTGCAGGGGGAGGGGCTGAGCATGACGGGCACTGTGTGCCATGTGGGGAAGATGAAGGACTGGGAGCGGCTGGTGGCCACAGCTATGAAG
CTTCATGGAGTTATTGATATCCTATCACTATCGATAACAAACTCCAAAAGAGGGTTGTTTTGGTTTACACTTCTGCAGACTGCAGAAGAAGCATGGGATAGAAAT
CTGGACATTAATGGGAAGGCCCTAGCCCTAATGATAAAGGCAGTGGTGCCAGAAATGGAGAAACGAGGGGGTGGTTCAGTGGGGTTCCTGGCCTCTGTAGCAGCC
TTCAGGCCACTTCCTGGCTTCAGTCCTTACAATGTCAGTAAAACAGCCTTGCTGGGCCTCAACAAGACCTTGGCCATAGAGCTGGCCCCAAGGAACATTAGGGTG
AACTGCCTAGCACCTGGACTTATCAAGACTAGCTTCAGCAGGATGCTCTGGATGGACAAGGAAAAAGAGGAAAGCATGAAAGAAACCCTGCGGATAAGAAGGTTA
GGCGAGCCAGAGGATTCTCTTGGCATCGTGTCTTTCCTGTGCTCTGAAGATGCCAGCTACCTCACTGGGGAAACAGTGATGGTGGGTGGAGGAACCCCGTCCCGC
CTCTGA


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>DHRS4L1|728635|protein
MHKARLRGHCARAGKSVRLASSGMTRRDPLTNKVALVTASTDWIGFAVAQRLAQDGAHVVVSRRKQQNVDQAVATLQGEGLSMTGTVCHVGKMKDWERLVATAMK
LHGVIDILSLSITNSKRGLFWFTLLQTAEEAWDRNLDINGKALALMIKAVVPEMEKRGGGSVGFLASVAAFRPLPGFSPYNVSKTALLGLNKTLAIELAPRNIRV
NCLAPGLIKTSFSRMLWMDKEKEESMKETLRIRRLGEPEDSLGIVSFLCSEDASYLTGETVMVGGGTPSRL


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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 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (1) 0 (0) 0 (3)
Syndromic Autism Gene Top
Genome-Wide Association Studies (By Ethnic Group) Top
Family Based Association Studies: 1
Reference Stage Platform #Families Affecteds Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ
(range)
CAUCASIAN
Hussman, 2011_1 Discovery Illumina Infinium Human 1 M beadship 597 -
(-)
ASD -
-
-
-
Case Control Based Association Studies: 0
Reference Stage Platform ASD Cases Normal Controls Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
No Evidence.
CNV Studies Top
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
Reference Case Number Family Number de novo Number Title
O'Roak BJ, 2012 1703 209 242 Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Reference Source Platform ADI-R ADOS Diagnosis Family Affected Validation Method
Total Simplex Multiplex
Doan RN, 2016 - ---ASD - - - - -
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