AutismKB 2.0

Evidence Details for RELN


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Basic Information Top
Gene Symbol:RELN ( PRO1598,RL )
Gene Full Name: reelin
Band: 7q22.1
Quick LinksEntrez ID:5649; OMIM: 600514; Uniprot ID:RELN_HUMAN; ENSEMBL ID: ENSG00000189056; HGNC ID: 9957
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>RELN|5649|nucleotide
ATGGAGCGCAGTGGCTGGGCCCGGCAGACTTTCCTCCTAGCGCTGTTGCTGGGGGCGACGCTGAGGGCGCGCGCGGCGGCTGGCTATTACCCCCGCTTTTCGCCC
TTCTTTTTCCTGTGCACCCACCACGGGGAGCTGGAAGGGGATGGGGAGCAGGGCGAGGTGCTCATTTCCCTGCATATTGCGGGCAACCCCACCTACTACGTTCCG
GGACAAGAATACCATGTGACAATTTCAACAAGCACCTTTTTTGACGGCTTGCTGGTGACAGGACTATACACATCTACAAGTGTTCAGGCATCACAGAGCATTGGA
GGTTCCAGTGCTTTCGGATTTGGGATCATGTCTGACCACCAGTTTGGTAACCAGTTTATGTGCAGTGTGGTAGCCTCTCACGTGAGTCACCTGCCCACAACCAAC
CTCAGTTTCATCTGGATTGCTCCACCTGCGGGCACAGGCTGTGTGAATTTCATGGCTACAGCAACACACCGGGGCCAGGTTATTTTCAAAGATGCTTTAGCCCAG
CAGTTGTGTGAACAAGGAGCTCCAACAGATGTCACTGTGCACCCACATCTAGCTGAAATACATAGTGACAGCATTATCCTGAGAGATGACTTTGACTCCTACCAC
CAACTGCAATTAAATCCAAATATATGGGTTGAATGTAACAACTGTGAGACTGGAGAACAGTGTGGCGCGATTATGCATGGCAATGCCGTCACCTTCTGTGAACCA
TATGGCCCACGAGAACTGATTACCACAGGCCTTAATACAACAACAGCTTCTGTCCTCCAATTTTCCATTGGGTCAGGTTCATGTCGCTTTAGTTATTCAGACCCC
AGCATCATCGTGTTATATGCCAAGAATAACTCTGCGGACTGGATTCAGCTAGAGAAAATTAGAGCCCCTTCCAATGTCAGCACAATCATCCATATCCTCTACCTT
CCTGAGGACGCCAAAGGGGAGAATGTCCAATTTCAGTGGAAGCAGGAAAATCTTCGTGTAGGTGAAGTGTATGAAGCCTGCTGGGCCTTAGATAACATCTTGATC
ATCAATTCAGCTCACAGACAAGTCGTTTTAGAAGATAGTCTCGACCCAGTGGACACAGGCAACTGGCTTTTCTTCCCAGGAGCTACAGTTAAGCATAGCTGTCAG
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>RELN|5649|protein
MERSGWARQTFLLALLLGATLRARAAAGYYPRFSPFFFLCTHHGELEGDGEQGEVLISLHIAGNPTYYVPGQEYHVTISTSTFFDGLLVTGLYTSTSVQASQSIG
GSSAFGFGIMSDHQFGNQFMCSVVASHVSHLPTTNLSFIWIAPPAGTGCVNFMATATHRGQVIFKDALAQQLCEQGAPTDVTVHPHLAEIHSDSIILRDDFDSYH
QLQLNPNIWVECNNCETGEQCGAIMHGNAVTFCEPYGPRELITTGLNTTTASVLQFSIGSGSCRFSYSDPSIIVLYAKNNSADWIQLEKIRAPSNVSTIIHILYL
PEDAKGENVQFQWKQENLRVGEVYEACWALDNILIINSAHRQVVLEDSLDPVDTGNWLFFPGATVKHSCQSDGNSIYFHGNEGSEFNFATTRDVDLSTEDIQEQW
SEEFESQPTGWDVLGAVIGTECGTIESGLSMVFLKDGERKLCTPSMDTTGYGNLRFYFVMGGICDPGNSHENDIILYAKIEGRKEHITLDTLSYSSYKVPSLVSV
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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 (3) 0 (0) 1 (1) 3 (18) 0 (0) 2 (5) 1 (1) 0 (2) 3 (3) 67 (33)
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
Maestrini, 2009_2 Discovery GoldenGate assay (Illumina, San Diego, CA, USA) 127 127
(-)		ASD -
-		 -
-
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
Linkage Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Monaco, 2001 - microsatellite-based genomic screenPDD 152 - 152 - - - -
Low Scale Association Studies (by Ethnic Group) Top
Family Based Association Studies: 14
Case Control Based Association Studies: 4
Reference Source Platfrom ASD Cases Normal Controls Result
ADI-R ADOS Diagnosis Age
(range)		 IQ #Subjects
(% Women)		 Age
(range)
CAUCASIAN
Zhang, 2002_1 Canada, AGRE -ASD -
-		 - 347
(48.99%)		 -
-
ASIAN
Li, 2008_1 China SNPstream technologyASD 5.3
-		 - 160
(15.63%)		 6.7
-
MIXED/OTHERS
Wang Z, 2014_1 Unknown ---ASD -
-		 - -
(-)		 -
-		-
Wang Z, 2014_1 Unknown ---ASD -
-		 - -
(-)		 -
-
Shen Y, 2016_1 China Illumina HumanHap CNV370K BeadChipautistic 5.08
-		 - 1074
(-)		 -
-
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
Reference Case Number Family Number de novo Number Title
Neale BM, 2012 175 175 173 Patterns and rates of exonic de novo mutations in autism spectrum disorders.
De Rubeis S, 2014 2270 - 1702 Synaptic, transcriptional and chromatin genes disrupted in autism
Stessman HA, 2017 6342 - 74 Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and development
NGS Mosaic SNV Studies Top
Reference Case Number Family Number Mosaic Number Title
Krupp DR, 2017 - 2264 247 Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder
NGS Other Studies Top
Reference Source Platform ADI-R ADOS Diagnosis Family Affected Validation Method
Total Simplex Multiplex
Cukier HN, 2014 - Illumina HiSeq 2000ASD 40 - - 100 HumanExome BeadChip or Sanger sequencing
Alvarez-Mora MI, 2016 - Illumina MiSeqASD - - - 44 Sanger sequencing
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


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