AutismKB 2.0

Evidence Details for VLDLR


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Basic Information Top
Gene Symbol:VLDLR ( CARMQ1,CHRMQ1,FLJ35024,VLDLRCH )
Gene Full Name: very low density lipoprotein receptor
Band: 9p24.2
Quick LinksEntrez ID:7436; OMIM: 192977; Uniprot ID:VLDLR_HUMAN; ENSEMBL ID: ENSG00000147852; HGNC ID: 12698
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>VLDLR|7436|nucleotide
ATGGGCACGTCCGCGCTCTGGGCGCTCTGGCTGCTGCTCGCGCTGTGCTGGGCGCCCCGGGAGAGCGGCGCCACCGGAACCGGGAGAAAAGCCAAATGTGAACCC
TCCCAATTCCAGTGCACAAATGGTCGCTGTATTACGCTGTTGTGGAAATGTGATGGGGATGAAGACTGTGTTGACGGCAGTGATGAAAAGAACTGTGTAAAGAAG
ACGTGTGCTGAATCTGACTTCGTGTGCAACAATGGCCAGTGTGTTCCCAGCCGATGGAAGTGTGATGGAGATCCTGACTGCGAAGATGGTTCAGATGAAAGCCCA
GAACAGTGCCATATGAGAACATGCCGCATACATGAAATCAGCTGTGGCGCCCATTCTACTCAGTGTATCCCAGTGTCCTGGAGATGTGATGGTGAAAATGATTGT
GACAGTGGAGAAGATGAAGAAAACTGTGGCAATATAACATGTAGTCCCGACGAGTTCACCTGCTCCAGTGGCCGCTGCATCTCCAGGAACTTTGTATGCAATGGC
CAGGATGACTGCAGCGATGGCAGTGATGAGCTGGACTGTGCCCCGCCAACCTGTGGCGCCCATGAGTTCCAGTGCAGCACCTCCTCCTGCATCCCCATCAGCTGG
GTATGCGACGATGATGCAGACTGCTCCGACCAATCTGATGAGTCCCTGGAGCAGTGTGGCCGTCAGCCAGTCATACACACCAAGTGTCCAGCCAGCGAAATCCAG
TGCGGCTCTGGCGAGTGCATCCATAAGAAGTGGCGATGTGATGGGGACCCTGACTGCAAGGATGGCAGTGATGAGGTCAACTGTCCCTCTCGAACTTGCCGACCT
GACCAATTTGAATGTGAGGATGGCAGCTGCATCCATGGCAGCAGGCAGTGTAATGGTATCCGAGACTGTGTCGATGGTTCCGATGAAGTCAACTGCAAAAATGTC
AATCAGTGCTTGGGCCCTGGAAAATTCAAGTGCAGAAGTGGAGAATGCATAGATATCAGCAAAGTATGTAACCAGGAGCAGGACTGCAGGGACTGGAGTGATGAG
CCCCTGAAAGAGTGTCATATAAACGAATGCTTGGTAAATAATGGTGGATGTTCTCATATCTGCAAAGACCTAGTTATAGGCTACGAGTGTGACTGTGCAGCTGGG
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>VLDLR|7436|protein
MGTSALWALWLLLALCWAPRESGATGTGRKAKCEPSQFQCTNGRCITLLWKCDGDEDCVDGSDEKNCVKKTCAESDFVCNNGQCVPSRWKCDGDPDCEDGSDESP
EQCHMRTCRIHEISCGAHSTQCIPVSWRCDGENDCDSGEDEENCGNITCSPDEFTCSSGRCISRNFVCNGQDDCSDGSDELDCAPPTCGAHEFQCSTSSCIPISW
VCDDDADCSDQSDESLEQCGRQPVIHTKCPASEIQCGSGECIHKKWRCDGDPDCKDGSDEVNCPSRTCRPDQFECEDGSCIHGSRQCNGIRDCVDGSDEVNCKNV
NQCLGPGKFKCRSGECIDISKVCNQEQDCRDWSDEPLKECHINECLVNNGGCSHICKDLVIGYECDCAAGFELIDRKTCGDIDECQNPGICSQICINLKGGYKCE
CSRGYQMDLATGVCKAVGKEPSLIFTNRRDIRKIGLERKEYIQLVEQLRNTVALDADIAAQKLFWADLSQKAIFSASIDDKVGRHVKMIDNVYNPAAIAVDWVYK
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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 (4) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (5)
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
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Linkage Studies Top