AutismKB

Evidence Detail for LDOC1L


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Basic Information Top
Gene Symbol:LDOC1L ( DKFZp761O17121,Mar6,Mart6,dJ1033E15.2 )
Gene Full Name: leucine zipper, down-regulated in cancer 1-like
Band: 22q13.31
Quick LinksEntrez ID:84247; OMIM: ; Uniprot ID:LDOCL_HUMAN; ENSEMBL ID: ENSG00000188636
Sequences Top
>LDOC1L|84247|nucleotide
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>LDOC1L|84247|protein
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Evidence Statistic Top

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Evidences Syndromic Gene GWAS Expression CNV Linkage Low Scale Association Other Studies Total
Score (No. of Studies) No 0 (1) 0 (0) 1 (4) 0 (0) 0 (0) 0 (0) 2 (1)
Syndromic Autism Gene Top
Low Scale Association Studies (by Ethnic Group) Top
Genome-Wide Association Studies(By Ethnic Group) Top
Family Based Association Studies: 1
Reference Stage #SNPs/ #VNTRs #Families Affecteds Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ
(range)
CAUCASIAN
Hussman, 2011_1 Discovery 1 (detail) 597 -
(-)
ASD -
-
-
-
Case Control Based Association Studies: 0
Reference Stage #SNPs/ #VNTRs ASD Cases Normal Controls Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
No Evidence.
Other Low Scale Gene Studies Top
Large Scale Expression Studies Top
CNV Studies Top
CNV Name Chr Band Gain/Loss Number of CNVs Evidence Type Reference
Case Control
AutCNV0000277 22 22q13 gain 1 - CNVs Only Present In Patients; Wassink, 2001
AutCNV0000282 22 22q13 loss 1 - Denovo CNVs; Prasad, 2000
AutCNV0000296 22 22q13.3 loss 1 - Denovo CNVs; Goizet, 2000
AutCNV0000710 22 22q13.2-qter loss 1 - CNVs Only Present In Patients; Chen, 2011
Linkage Studies Top

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  (e.g. NLGN4X)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 616
  • Genes: 3,075
  • SNPs/VNTRs: 3,386
  • CNVs: 4,617
  • Linkage Regions: 158
  • Last Update: 05/25/2012
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