AutismKB 2.0

Evidence Details for LRP1B


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Basic Information Top
Gene Symbol:LRP1B ( LRP-DIT,LRPDIT )
Gene Full Name: low density lipoprotein receptor-related protein 1B
Band: 2q22.1-q22.2
Quick LinksEntrez ID:53353; OMIM: 608766; Uniprot ID:LRP1B_HUMAN; ENSEMBL ID: ENSG00000168702; HGNC ID: 6693
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>LRP1B|53353|nucleotide
ATGTCCGAGTTTCTCCTCGCCTTACTCACTCTCTCGGGATTATTGCCGATTGCCAGGGTGCTGACCGTGGGAGCCGACCGAGATCAGCAGTTGTGTGATCCTGGT
GAATTTCTTTGCCACGATCACGTGACTTGTGTCTCCCAGAGCTGGCTGTGTGATGGGGACCCTGACTGCCCTGATGATTCAGACGAGTCTTTAGATACCTGTCCC
GAGGAGGTAGAAATCAAGTGCCCCTTGAATCACATTGCTTGCCTTGGTACCAACAAATGTGTTCATTTATCCCAGCTGTGCAATGGTGTCTTGGACTGCCCAGAT
GGGTATGACGAAGGAGTACATTGTCAGGAACTGTTATCCAATTGCCAACAGCTGAATTGTCAGTATAAATGTACAATGGTCAGAAATAGTACAAGATGTTACTGT
GAGGATGGATTCGAAATAACAGAAGATGGGAGAAGCTGTAAAGATCAAGATGAATGTGCTGTTTATGGTACATGCAGCCAGACCTGCAGAAACACACATGGATCC
TACACTTGCAGTTGTGTGGAAGGCTACCTAATGCAGCCAGACAACAGATCTTGCAAGGCTAAAATTGAACCTACAGATAGACCACCTATACTATTAATTGCAAAT
TTTGAAACAATTGAGGTTTTCTATCTTAATGGAAGTAAAATGGCAACTCTAAGCTCAGTCAATGGAAATGAAATTCATACTCTGGATTTTATTTATAATGAAGAT
ATGATTTGTTGGATTGAATCAAGAGAATCTTCAAATCAACTCAAATGTATCCAGATAACAAAAGCAGGAGGATTAACAGATGAATGGACAATCAATATTCTTCAA
TCCTTCCACAATGTGCAACAAATGGCGATTGACTGGCTCACTCGAAATCTCTATTTTGTGGACCATGTCGGTGACCGGATCTTTGTTTGTAATTCCAACGGTTCT
GTATGTGTCACCCTGATTGATCTGGAGCTTCACAATCCTAAAGCAATAGCAGTAGATCCAATAGCAGGAAAACTTTTCTTTACTGACTACGGGAATGTCGCCAAA
GTGGAGAGATGTGACATGGATGGGATGAACCGAACAAGGATAATTGATTCAAAGACAGAGCAGCCAGCTGCACTGGCACTAGACCTAGTCAACAAATTGGTTTAC
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>LRP1B|53353|protein
MSEFLLALLTLSGLLPIARVLTVGADRDQQLCDPGEFLCHDHVTCVSQSWLCDGDPDCPDDSDESLDTCPEEVEIKCPLNHIACLGTNKCVHLSQLCNGVLDCPD
GYDEGVHCQELLSNCQQLNCQYKCTMVRNSTRCYCEDGFEITEDGRSCKDQDECAVYGTCSQTCRNTHGSYTCSCVEGYLMQPDNRSCKAKIEPTDRPPILLIAN
FETIEVFYLNGSKMATLSSVNGNEIHTLDFIYNEDMICWIESRESSNQLKCIQITKAGGLTDEWTINILQSFHNVQQMAIDWLTRNLYFVDHVGDRIFVCNSNGS
VCVTLIDLELHNPKAIAVDPIAGKLFFTDYGNVAKVERCDMDGMNRTRIIDSKTEQPAALALDLVNKLVYWVDLYLDYVGVVDYQGKNRHTVIQGRQVRHLYGIT
VFEDYLYATNSDNYNIVRINRFNGTDIHSLIKIENAWGIRIYQKRTQPTVRSHACEVDPYGMPGGCSHICLLSSSYKTRTCRCRTGFNLGSDGRSCKRPKNELFL
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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 (1) 0 (0) 0 (0) 1 (1) 0 (1) 0 (1) 0 (0) 0 (0) 1 (4)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Linkage Studies Top