AutismKB

Evidence Detail for RELN


View Evidences View Annotations
Basic Information Top
Gene Symbol:RELN ( PRO1598,RL )
Gene Full Name: reelin
Band: 7q22
Quick LinksEntrez ID:5649; OMIM: 600514; Uniprot ID:RELN_HUMAN; ENSEMBL ID: ENSG00000189056
Sequences Top
>RELN|5649|nucleotide
Show »

>RELN|5649|protein
Show »

Evidence Statistic 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 Expression CNV Linkage Low Scale Association Other Studies Total
Score (No. of Studies) No 2 (3) 0 (0) 0 (0) 1 (1) 3 (14) 3 (3) 43 (23)
Syndromic Autism Gene Top
Low Scale Association Studies (by Ethnic Group) Top
Family Based Association Studies: 12
Case Control Based Association Studies: 2
Reference Population #SNPs/ #VNTRs ASD Cases Normal Controls Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
CAUCASIAN
Zhang, 2002_1 Canada, AGRE 1 (detail) 126
(-)
ASD -
-
- 347
(48.99%)
-
-
ASIAN
Li, 2008_1 China 8 (detail) 213
(15.02%)
ASD 5.3
-
- 160
(15.63%)
6.7
-
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
Maestrini, 2009_2 Discovery 1 (detail) 127 127
(-)
ASD -
-
-
-
Case Control Based Association Studies: 2
Reference Stage #SNPs/ #VNTRs ASD Cases Normal Controls Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
CAUCASIAN
de Krom, 2008_2 Replication 2 (detail) 128
(14.06%)
ASD -
(4-18)
- 273
(-)
-
-
de Krom, 2008_1 Discovery 2 (detail) 144
(17.36%)
ASD -
(4-18)
- 404
(-)
-
-
Other Low Scale Gene Studies Top
Reference Orangnism Tissue ADI-R ADOS Diagnosis Evidence Level Result
Fatemi, 2001_1 human blood--AD protein expression
  • Subjects: -
  • Normal Controls: -
  • Methods: Western blot
  • Evidence Details: Quantification of Reelin bands showed 43%, 44%, and 44% reductions in autistic cerebellum (mean optical density +/- SD per 30 microg protein 4.05 +/- 4.0, 1.98 +/- 2.0, 13.88 +/- 11.9 for 410 kDa, 330 kDa, and 180 kDa bands, respectively; N = 5) compared with controls (mean optical density +/- SD per 30 microg protein, 7.1 +/- 1.6, 3.5 +/- 1.0, 24.7 +/- 5.0; N = 8, p < 0.0402 for 180 kDa band).
Bonora, 2003_1 human bloodASD genetics: mutation screen
  • Subjects: 500 (406 male, 94 female)
  • Normal Controls: 389 (197 male, 192 female)
  • Methods: PCR, sequence
  • Evidence Details: Five novel missense variants absent in a large control group were identified in exons 10, 25, 35, 44 and 51.
Persico, 2006_1 human two neuronal cell lines, SN56 (Lee et al., 1990) and Neuroblastoma N2A (ATCC, Manassas, VA), and the non-neuronal CHO-K1 (ATCC, Manassas, VA) cell line--- genotype-phenotype interaction
  • Subjects: -
  • Normal Controls: -
  • Methods: Transient transfections, Luciferase assays
  • Evidence Details: RELN "long" GGC alleles significantly blunt gene expression
Neale, 2012_1 human bloodASD Mutation screen
  • Subjects: 175 simplex pedigrees
  • Normal Controls: -
  • Methods: direct sequencing
  • Evidence Details: De novo functional mutation was found in this gene locus
Large Scale Expression Studies Top
CNV Studies Top
CNV Name Chr Band Gain/Loss Number of CNVs Evidence Type Reference
Case Control
AutCNV0004554 7 7q22.1 Gain 1 - Denovo CNVs; Patircia, 2011
Linkage Studies Top
Linkage Name Band Chr Marker LOD NPL P_Value Reference
AutLD0000031 7q22.1 7 D7S477 3.2 - - Monaco, 2001

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.

Quick Search:


  (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
  • Click to Download Data

Registered with NIF