AutismKB 2.0

Evidence Details for LRP2


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Basic Information Top
Gene Symbol:LRP2 ( DBS,GP330 )
Gene Full Name: low density lipoprotein receptor-related protein 2
Band: 2q31.1
Quick LinksEntrez ID:4036; OMIM: 600073; Uniprot ID:LRP2_HUMAN; ENSEMBL ID: ENSG00000081479; HGNC ID: 6694
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>LRP2|4036|nucleotide
ATGGATCGCGGGCCGGCAGCAGTGGCGTGCACGCTGCTCCTGGCTCTCGTCGCCTGCCTAGCGCCGGCCAGTGGCCAAGAATGTGACAGTGCGCATTTTCGCTGT
GGAAGTGGGCATTGCATCCCTGCAGACTGGAGGTGTGATGGGACCAAAGACTGTTCAGATGACGCGGATGAAATTGGCTGCGCTGTTGTGACCTGCCAGCAGGGC
TATTTCAAGTGCCAGAGTGAGGGACAATGCATCCCCAACTCCTGGGTGTGTGACCAAGATCAAGACTGTGATGATGGCTCAGATGAACGTCAAGATTGCTCACAA
AGTACATGCTCAAGTCATCAGATAACATGCTCCAATGGTCAGTGTATCCCAAGTGAATACAGGTGCGACCACGTCAGAGACTGCCCCGATGGAGCTGATGAGAAT
GACTGCCAGTACCCAACATGTGAGCAGCTTACTTGTGACAATGGGGCCTGCTATAACACCAGTCAGAAGTGTGATTGGAAAGTTGATTGCAGGGACTCCTCAGAT
GAAATCAACTGCACTGAGATATGCTTGCACAATGAGTTTTCATGTGGCAATGGAGAGTGTATCCCTCGTGCTTATGTCTGTGACCATGACAATGATTGCCAAGAC
GGCAGTGACGAACATGCTTGCAACTATCCGACCTGCGGTGGTTACCAGTTCACTTGCCCCAGTGGCCGATGCATTTATCAAAACTGGGTTTGTGATGGAGAAGAT
GACTGTAAAGATAATGGAGATGAAGATGGATGTGAAAGCGGTCCTCATGATGTTCATAAATGTTCCCCAAGAGAATGGTCTTGCCCAGAGTCGGGACGATGCATC
TCCATTTATAAAGTTTGTGATGGGATTTTAGATTGCCCAGGAAGAGAAGATGAAAACAACACTAGTACCGGAAAATACTGTAGTATGACTCTGTGCTCTGCCTTG
AACTGCCAGTACCAGTGCCATGAGACGCCGTATGGAGGAGCGTGTTTTTGTCCCCCAGGTTATATCATCAACCACAATGACAGCCGTACCTGTGTTGAGTTTGAT
GATTGCCAGATATGGGGAATTTGTGACCAGAAGTGTGAAAGCCGACCTGGCCGTCACCTGTGCCACTGTGAAGAAGGGTATATCTTGGAGCGTGGACAGTATTGC
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>LRP2|4036|protein
MDRGPAAVACTLLLALVACLAPASGQECDSAHFRCGSGHCIPADWRCDGTKDCSDDADEIGCAVVTCQQGYFKCQSEGQCIPNSWVCDQDQDCDDGSDERQDCSQ
STCSSHQITCSNGQCIPSEYRCDHVRDCPDGADENDCQYPTCEQLTCDNGACYNTSQKCDWKVDCRDSSDEINCTEICLHNEFSCGNGECIPRAYVCDHDNDCQD
GSDEHACNYPTCGGYQFTCPSGRCIYQNWVCDGEDDCKDNGDEDGCESGPHDVHKCSPREWSCPESGRCISIYKVCDGILDCPGREDENNTSTGKYCSMTLCSAL
NCQYQCHETPYGGACFCPPGYIINHNDSRTCVEFDDCQIWGICDQKCESRPGRHLCHCEEGYILERGQYCKANDSFGEASIIFSNGRDLLIGDIHGRSFRILVES
QNRGVAVGVAFHYHLQRVFWTDTVQNKVFSVDINGLNIQEVLNVSVETPENLAVDWVNNKIYLVETKVNRIDMVNLDGSYRVTLITENLGHPRGIAVDPTVGYLF
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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 1 (1) 0 (0) 2 (4) 0 (0) 0 (0) 2 (3) 0 (0) 0 (0) 0 (0) 28 (8)
Syndromic Autism Gene Top
Genome-Wide Association Studies (By Ethnic Group) Top
Family Based Association Studies: 0
Reference Stage Platform #Families Affecteds Result
#Subjects
(% Women)		 ADI-R ADOS Diagnosis Age
(range)		 IQ
(range)
No Evidence.
Case Control Based Association Studies: 1
Reference Stage Platform ASD Cases Normal Controls Result
#Subjects
(% Women)		 ADI-R ADOS Diagnosis Age
(range)		 IQ #Subjects
(% Women)		 Age
(range)
MIXED/OTHERS
Kuo PH, 2015_1 Discovery Affymetrix SNP array 6.0 597
(-)		ASD -
-		 - 1595
(-)		 -
-
CNV Studies Top
Linkage Studies Top