AutismKB 2.0

Evidence Details for SQRDL


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:SQRDL ( - )
Gene Full Name: sulfide quinone reductase-like (yeast)
Band: 15q15
Quick LinksEntrez ID:58472; OMIM: NA; Uniprot ID:SQRD_HUMAN; ENSEMBL ID: ENSG00000137767; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SQRDL|58472|nucleotide
ATGGTGCCACTGGTGGCTGTGGTATCAGGGCCCCGTGCCCAGCTCTTTGCCTGCCTGCTCAGGCTGGGCACTCAGCAGGTCGGCCCCCTTCAGCTGCACACCGGG
GCCAGCCATGCGGCCAGGAACCATTATGAGGTGCTGGTGCTGGGTGGGGGCAGTGGCGGAATCACCATGGCTGCCCGCATGAAGAGGAAAGTGGGTGCAGAGAAT
GTGGCCATTGTTGAGCCCAGTGAGAGACATTTCTACCAGCCAATCTGGACACTGGTGGGTGCTGGTGCCAAACAATTGTCCTCATCTGGTCGTCCCACGGCAAGT
GTGATTCCATCTGGTGTAGAATGGATCAAAGCTAGAGTGACTGAGTTGAACCCAGACAAGAACTGCATTCACACAGATGACGACGAGAAGATCTCCTACCGATAT
CTTATTATTGCTCTCGGAATCCAGCTGGACTATGAGAAGATTAAAGGCCTACCTGAAGGTTTCGCTCATCCCAAAATAGGGTCGAATTATTCAGTTAAGACTGTA
GAGAAGACATGGAAAGCTCTGCAGGACTTCAAAGAGGGCAATGCCATCTTCACCTTCCCAAATACTCCAGTGAAGTGTGCTGGAGCCCCTCAGAAGATCATGTAC
TTATCAGAAGCCTACTTCAGGAAGACAGGGAAGCGATCCAAGGCCAATATCATTTTCAACACTTCTCTTGGAGCCATTTTCGGGGTTAAGAAGTATGCAGATGCC
CTGCAGGAGATCATCCAGGAGCGGAACCTCACTGTTAACTACAAGAAAAACCTCATTGAAGTCCGAGCCGATAAACAAGAGGCTGTATTTGAGAACCTGGACAAA
CCAGGAGAGACCCAAGTGATTTCATATGAAATGCTTCATGTCACACCTCCAATGAGCCCACCAGATGTCCTCAAGACCAGTCCTGTGGCTGATGCTGCTGGTTGG
GTGGATGTGGATAAAGAAACTCTGCAACACAGGAGGTACCCAAATGTGTTTGGGATTGGGGACTGCACCAACCTTCCTACGTCAAAGACCGCTGCTGCAGTAGCT
GCCCAGTCAGGAATACTTGATAGGACAATTTCTGTAATTATGAAGAATCAAACACCAACAAAGAAGTATGATGGCTACACATCATGTCCACTGGTGACCGGCTAC
Show »

>SQRDL|58472|protein
MVPLVAVVSGPRAQLFACLLRLGTQQVGPLQLHTGASHAARNHYEVLVLGGGSGGITMAARMKRKVGAENVAIVEPSERHFYQPIWTLVGAGAKQLSSSGRPTAS
VIPSGVEWIKARVTELNPDKNCIHTDDDEKISYRYLIIALGIQLDYEKIKGLPEGFAHPKIGSNYSVKTVEKTWKALQDFKEGNAIFTFPNTPVKCAGAPQKIMY
LSEAYFRKTGKRSKANIIFNTSLGAIFGVKKYADALQEIIQERNLTVNYKKNLIEVRADKQEAVFENLDKPGETQVISYEMLHVTPPMSPPDVLKTSPVADAAGW
VDVDKETLQHRRYPNVFGIGDCTNLPTSKTAAAVAAQSGILDRTISVIMKNQTPTKKYDGYTSCPLVTGYNRVILAEFDYKAEPLETFPFDQSKERLSMYLMKAD
LMPFLYWNMMLRGYWGGPAFLRKLFHLGMS
Show »

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 0 (1) 1 (2) 1 (1) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 5 (5)
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
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Zwaag, 2009 - SNP microarrayautism - - - - 105 267 372
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Linkage Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Allen-Brady, 2010 USA SNP-based genomic screenASD 40 - 40 - 192 461 653
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
Microarray Studies: 1
Reference Source Tissue #Subjects
(% Women)
ADI-R ADOS Endo- pheno Diagnosis Normal Controls
(% Women)
Fold Change Up/ Down P/Q value
Garbett, 2008_1 Unknown superior temporal gyrus (STG) 6
(33.33%)
---autism 6
(33.33%)
1.36396 Up 0.030606
  • Platform: Affymetrix Human Genome 133 plus 2 microarrays
  • ProbeSet: 217995_at
  • RefSeq_ID/ EST: -
  • GEO_ID: -
  • Statistic Method: pairwise/groupwise two-tailed t-test between the RMA intensities of AUT and CONT samples
Proteomics Studies:0
Reference Source Tissue Platform #Subjects
(% Women)
ADI-R ADOS Diagnosis Normal Controls(% Women)
No Evidence.
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.

Simple Query:


  (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