AutismKB 2.0

Evidence Details for LRRC48


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Basic Information Top
Gene Symbol:LRRC48 ( DKFZp586M1120 )
Gene Full Name: leucine rich repeat containing 48
Band: 17p11.2
Quick LinksEntrez ID:83450; OMIM: NA; Uniprot ID:LRC48_HUMAN; ENSEMBL ID: ENSG00000171962; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>LRRC48|83450|nucleotide
ATGAACCAGCCGTGCAACTCGATGGAGCCGAGGGTGATGGACGATGACATGCTCAAGCTGGCCGTCGGGGACCAGGGCCCCCAGGAGGAGGCCGGGCAGCTGGCC
AAGCAGGAGGGCATCCTCTTCAAGGATGTCCTGTCCCTGCAGCTGGACTTTCGGAACATCCTCCGCATAGACAACCTCTGGCAGTTTGAGAACTTGAGGAAGCTG
CAGCTGGACAATAACATCATTGAGAAGATCGAGGGCCTGGAGAACCTCGCACACCTGGTCTGGCTGGATCTGTCTTTCAACAACATTGAGACCATCGAGGGGCTG
GACACACTGGTGAACCTGGAGGACCTGAGCTTGTTCAACAACCGGATCTCCAAGATCGACTCCCTGGACGCCCTCGTCAAGCTGCAGGTGTTGTCGCTGGGCAAC
AACCGGATTGACAACATGATGAACATCATCTACCTCCGGCGGTTCAAGTGCCTGCGGACGCTCAGCCTCTCTAGGAACCCTATCTCTGAGGCAGAGGATTACAAG
ATGTTCATCTGTGCCTACCTTCCTGACCTCATGTACCTGGACTACCGGCGCATTGATGACCACACAAAAAAGCTTGCGGAGGCTAAGCACCAGTACAGCATCGAC
GAGCTGAAGCACCAGGAGAACCTGATGCAGGCCCAGCTGGAGGACGAGCAGGCGCAGCGGGAGGAGCTAGAGAAGCACAAGACTGCGTTTGTGGAACACCTGAAT
GGCTCCTTCCTGTTTGACAGCATGTACGCTGAGGACTCAGAGGGCAACAATCTGTCCTACCTGCCTGGTGTCGGTGAGCTCCTTGAGACCTACAAGGACAAGTTT
GTCATCATCTGCGTGAATATTTTTGAGTATGGCCTGAAACAGCAGGAGAAGCGGAAAACAGAGCTTGACACCTTCAGTGAATGTGTCCGTGAGGCCATCCAGGAA
AACCAGGAGCAGGGCAAACGCAAGATTGCCAAATTCGAGGAGAAGCACTTGTCGAGTTTAAGTGCCATTCGAGAGGAGTTGGAACTGCCCAACATTGAGAAGATG
ATCCTAGAATGCAGTGCTGACATCAGTGAGTTGTTCGATGCGCTCATGACGCTGGAGATGCAGCTGGTGGAGCAGCTGGAGGAGACTATAAACATGTTTGAAAGG
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>LRRC48|83450|protein
MNQPCNSMEPRVMDDDMLKLAVGDQGPQEEAGQLAKQEGILFKDVLSLQLDFRNILRIDNLWQFENLRKLQLDNNIIEKIEGLENLAHLVWLDLSFNNIETIEGL
DTLVNLEDLSLFNNRISKIDSLDALVKLQVLSLGNNRIDNMMNIIYLRRFKCLRTLSLSRNPISEAEDYKMFICAYLPDLMYLDYRRIDDHTKKLAEAKHQYSID
ELKHQENLMQAQLEDEQAQREELEKHKTAFVEHLNGSFLFDSMYAEDSEGNNLSYLPGVGELLETYKDKFVIICVNIFEYGLKQQEKRKTELDTFSECVREAIQE
NQEQGKRKIAKFEEKHLSSLSAIREELELPNIEKMILECSADISELFDALMTLEMQLVEQLEETINMFERNIVDMVGLFIENVQSLMAQCRDLENHHHEKLLEIS
ISTLEKIVEGDLDEDLPNDLRALFVDKDTIVNAVGASHDIHLLKIDNREDELVTRINSWCTRLIDRIHKDEIMRNRKRVKEINQYIDHMQSELDNLECGDILD
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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) 1 (4) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (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
Potocki, 2007 - aCGHautism - - - - 1 - 1
Nakamine, 2008 Costa Rica SNP microarrayautsim - - - - 1 - 1
Zwaag, 2009 - SNP microarrayautism - - - - 105 267 372
Bremer, 2011 - aCGHASD - - - - 223 - 223
Linkage Studies Top