AutismKB 2.0

Evidence Details for LRP4


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Basic Information Top
Gene Symbol:LRP4 ( CLSS,KIAA0816,LRP-4,LRP10,MEGF7 )
Gene Full Name: low density lipoprotein receptor-related protein 4
Band: 11p11.2
Quick LinksEntrez ID:4038; OMIM: 604270; Uniprot ID:LRP4_HUMAN; ENSEMBL ID: ENSG00000134569; HGNC ID: 6696
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>LRP4|4038|nucleotide
ATGAGGCGGCAGTGGGGCGCGCTGCTGCTTGGCGCCCTGCTCTGCGCACACGGCCTGGCCAGCAGCCCCGAGTGTGCTTGTGGTCGGAGCCACTTCACATGTGCA
GTGAGTGCTCTTGGAGAGTGTACCTGCATCCCTGCCCAGTGGCAGTGTGATGGAGACAATGACTGCGGGGACCACAGCGATGAGGATGGATGTATACTACCTACC
TGTTCCCCTCTTGACTTTCACTGTGACAATGGCAAGTGCATCCGCCGCTCCTGGGTGTGTGACGGGGACAACGACTGTGAGGATGACTCGGATGAGCAGGACTGT
CCCCCCCGGGAGTGTGAGGAGGACGAGTTTCCCTGCCAGAATGGCTACTGCATCCGGAGTCTGTGGCACTGCGATGGTGACAATGACTGTGGCGACAACAGCGAT
GAGCAGTGTGACATGCGCAAGTGCTCCGACAAGGAGTTCCGCTGTAGTGACGGAAGCTGCATTGCTGAGCATTGGTACTGCGACGGTGACACCGACTGCAAAGAT
GGCTCCGATGAGGAGAACTGTCCCTCAGCAGTGCCAGCGCCCCCCTGCAACCTGGAGGAGTTCCAGTGTGCCTATGGACGCTGCATCCTCGACATCTACCACTGC
GATGGCGACGATGACTGTGGAGACTGGTCAGACGAGTCTGACTGCTCCTCCCACCAGCCCTGCCGCTCTGGGGAGTTCATGTGTGACAGTGGCCTGTGCATCAAT
GCAGGCTGGCGCTGCGATGGTGACGCGGACTGTGATGACCAGTCTGATGAGCGCAACTGCACCACCTCCATGTGTACGGCAGAACAGTTCCGCTGTCACTCAGGC
CGCTGTGTCCGCCTGTCCTGGCGCTGTGATGGGGAGGACGACTGTGCAGACAACAGCGATGAAGAGAACTGTGAGAATACAGGAAGCCCCCAATGTGCCTTGGAC
CAGTTCCTGTGTTGGAATGGGCGCTGCATTGGGCAGAGGAAGCTGTGCAACGGGGTCAACGACTGTGGTGACAACAGCGACGAAAGCCCACAGCAGAATTGCCGG
CCCCGGACGGGTGAGGAGAACTGCAATGTTAACAACGGTGGCTGTGCCCAGAAGTGCCAGATGGTGCGGGGGGCAGTGCAGTGTACCTGCCACACAGGCTACCGG
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>LRP4|4038|protein
MRRQWGALLLGALLCAHGLASSPECACGRSHFTCAVSALGECTCIPAQWQCDGDNDCGDHSDEDGCILPTCSPLDFHCDNGKCIRRSWVCDGDNDCEDDSDEQDC
PPRECEEDEFPCQNGYCIRSLWHCDGDNDCGDNSDEQCDMRKCSDKEFRCSDGSCIAEHWYCDGDTDCKDGSDEENCPSAVPAPPCNLEEFQCAYGRCILDIYHC
DGDDDCGDWSDESDCSSHQPCRSGEFMCDSGLCINAGWRCDGDADCDDQSDERNCTTSMCTAEQFRCHSGRCVRLSWRCDGEDDCADNSDEENCENTGSPQCALD
QFLCWNGRCIGQRKLCNGVNDCGDNSDESPQQNCRPRTGEENCNVNNGGCAQKCQMVRGAVQCTCHTGYRLTEDGHTCQDVNECAEEGYCSQGCTNSEGAFQCWC
ETGYELRPDRRSCKALGPEPVLLFANRIDIRQVLPHRSEYTLLLNNLENAIALDFHHRRELVFWSDVTLDRILRANLNGSNVEEVVSTGLESPGGLAVDWVHDKL
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Evidence summary Top

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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 (0) 0 (0) 1 (2) 0 (0) 1 (1) 0 (1) 0 (0) 0 (0) 0 (0) 3 (4)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Yonan, 2003 USA microsatellite-based genomic screenPDD 345 - 345 - - - -
Spence, 2006 USA microsatellite-based genomic screenASD 133 - 133 - 280 - -
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
Voineagu, 2011_1 Unknown 16 frontal cortex(BA9) and 13 temporal cortex(BA41 16
(25.00%)
-autism 16
(6.25%)
1.33002 Up 1.50544
  • Platform: Illumina Ref8 v3 microarrays
  • ProbeSet: ILMN_1675268
  • RefSeq_ID/ EST: -
  • GEO_ID: GSE28521
  • Statistic Method: SAM package and unless otherwise specified the significance threshold was FDR,0.05 and fold changes.1.3.
Proteomics Studies:0
Reference Source Tissue Platform #Subjects
(% Women)
ADI-R ADOS Diagnosis Normal Controls(% Women)
No Evidence.
NGS de novo Mutation Studies Top
Reference Case Number Family Number de novo Number Title
C Yuen RK, 2017 1625 - 237 Whole genome sequencing resource identifies 18 new candidate genes for 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.

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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