AutismKB 2.0

Evidence Details for LAMA1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:LAMA1 ( LAMA )
Gene Full Name: laminin, alpha 1
Band: 18p11.31
Quick LinksEntrez ID:284217; OMIM: 150320; Uniprot ID:LAMA1_HUMAN; ENSEMBL ID: ENSG00000101680; HGNC ID: 6481
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>LAMA1|284217|nucleotide
ATGCGCGGGGGCGTGCTCCTGGTCTTGCTGCTGTGTGTCGCCGCGCAGTGCCGGCAGAGAGGCCTGTTTCCTGCCATTCTCAATCTTGCCAGCAATGCTCACATC
AGCACCAATGCCACCTGTGGCGAGAAGGGGCCGGAGATGTTCTGCAAACTTGTGGAGCATGTGCCAGGTCGGCCCGTCCGAAACCCACAGTGCCGGATCTGTGAT
GGCAACAGCGCAAACCCCAGAGAACGCCATCCAATATCACATGCCATAGATGGCACCAATAACTGGTGGCAAAGTCCCAGCATTCAGAATGGGAGAGAATATCAC
TGGGTCACAATCACTCTGGACTTAAGACAGGTCTTTCAAGTTGCATATGTCATCATTAAAGCTGCCAATGCCCCTCGACCTGGAAACTGGATTTTGGAGCGTTCT
CTGGATGGCACCACGTTCAGCCCCTGGCAGTATTATGCAGTCAGCGACTCAGAGTGTTTGTCTCGTTACAATATAACTCCAAGACGAGGGCCACCCACCTACAGG
GCTGATGATGAAGTGATCTGCACCTCCTATTATTCCAGATTGGTGCCACTTGAGCATGGAGAGATTCATACATCACTCATCAATGGCAGACCAAGCGCTGACGAT
CTTTCACCCAAGTTGTTGGAATTCACTTCTGCACGATATATTCGCCTTCGCTTGCAACGCATTAGAACGCTCAATGCAGATCTCATGACCCTTAGCCACCGGGAA
CCTAAAGAACTGGATCCTATTGTTACCAGACGCTATTATTATTCAATAAAGGACATTTCTGTTGGAGGCATGTGTATCTGCTATGGCCATGCTAGTAGCTGCCCA
TGGGATGAAACTACAAAGAAACTGCAGTGTCAATGTGAGCATAATACTTGCGGGGAGAGCTGTAACAGGTGCTGTCCTGGGTACCATCAGCAGCCCTGGAGGCCG
GGAACCGTGTCCTCCGGCAATACATGTGAAGCATGTAATTGTCACAATAAAGCCAAAGACTGTTACTATGATGAAAGTGTTGCAAAGCAGAAGAAAAGTTTGAAT
ACTGCTGGACAGTTCAGAGGAGGAGGGGTTTGCATAAATTGCTTGCAGAACACCATGGGAATCAACTGTGAAACCTGTATTGATGGATATTATAGACCACACAAA
Show »

>LAMA1|284217|protein
MRGGVLLVLLLCVAAQCRQRGLFPAILNLASNAHISTNATCGEKGPEMFCKLVEHVPGRPVRNPQCRICDGNSANPRERHPISHAIDGTNNWWQSPSIQNGREYH
WVTITLDLRQVFQVAYVIIKAANAPRPGNWILERSLDGTTFSPWQYYAVSDSECLSRYNITPRRGPPTYRADDEVICTSYYSRLVPLEHGEIHTSLINGRPSADD
LSPKLLEFTSARYIRLRLQRIRTLNADLMTLSHREPKELDPIVTRRYYYSIKDISVGGMCICYGHASSCPWDETTKKLQCQCEHNTCGESCNRCCPGYHQQPWRP
GTVSSGNTCEACNCHNKAKDCYYDESVAKQKKSLNTAGQFRGGGVCINCLQNTMGINCETCIDGYYRPHKVSPYEDEPCRPCNCDPVGSLSSVCIKDDLHSDLHN
GKQPGQCPCKEGYTGEKCDRCQLGYKDYPTCVSCGCNPVGSASDEPCTGPCVCKENVEGKACDRCKPGFYNLKEKNPRGCSECFCFGVSDVCSSLSWPVGQVNSM
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 1 (1) 0 (0) 1 (1) 0 (0) 0 (0) 0 (2) 0 (0) 0 (0) 0 (0) 6 (4)
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)
MIXED/OTHERS
Anney R, 2012_2 - Illumina Infinium 1M-single SNP microarray; Illumina 1M-duo microarray 2705 -
(-)
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
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Shao, 2002 USA microsatellite-based genomic screenautism 52 - 52 - 112 - -
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
De Rubeis S, 2014 2270 - 1702 Synaptic, transcriptional and chromatin genes disrupted in autism
Iossifov I, 2014 2508 - 1194 The contribution of de novo coding mutations to autism spectrum disorder.
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