AutismKB 2.0

Evidence Details for LRRC56


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Basic Information Top
Gene Symbol:LRRC56 ( DKFZp761L1518,FLJ00101 )
Gene Full Name: leucine rich repeat containing 56
Band: 11p15.5
Quick LinksEntrez ID:115399; OMIM: NA; Uniprot ID:LRC56_HUMAN; ENSEMBL ID: ENSG00000161328; HGNC ID: 25430
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>LRRC56|115399|nucleotide
ATGGATCTGGGCTGGGACAGATCCCGTGGGCCTCGGCGGAGCACCTCCAGCGTCCGGGTGCGGGAGCTGAGCTGGCAAGGCCTGCACAACCCCTGCCCACAGAGC
AAGGGCCCTGGCAGTCAGAGGGACAGACTTGGAGAGCAGCTGGTGGAAGAGTACCTGTCCCCTGCCCGGCTGCAGGCCCTGGCCCGGGTGGATGACCTTCGGCTG
GTGAGGACGCTGGAGATGTGTGTGGACACTCGTGAGGGCAGCCTGGGGAACTTTGGGGTGCACCTGCCCAACCTGGACCAACTGAAGCTGAACGGCAGCCACCTG
GGCTCCCTGAGGGACTTGGGCACGTCTCTGGGCCACCTGCAGGTGCTGTGGCTGGCTCGCTGTGGCCTCGCTGACCTGGATGGCATCGCCTCTTTGCCAGCACTT
AAGGAACTCTACGCCTCCTACAACAACATCTCGGACCTGAGCCCACTGTGCCTGCTGGAACAATTGGAGGTGCTGGACCTGGAGGGCAACAGCGTGGAGGACCTG
GGGCAGGTGCGCTACTTGCAGCTGTGCCCACGCCTGGCCATGCTCACCCTGGAGGGCAACCTGGTGTGCCTACAGCCGGCCCCTGGCCCCACCAACAAGGTGCCC
AGGGGCTACAACTACAGGGCAGAGGTGAGGAAGCTCATTCCCCAGCTGCAGGTCCTGGACGAAGTGCCGGCCGCACACACAGGCCCACCGGCCCCCCCGCGGCTG
AGCCAGGACTGGCTTGCGGTGAAGGAGGCCATCAAGAAGGGCAACGGCCTTCCCCCGCTGGACTGTCCCCGTGGAGCCCCCATCCGGAGACTTGACCCCGAGCTG
TCCCTGCCTGAGACGCAGTCCCGGGCCTCCAGGCCCTGGCCCTTCTCCCTGCTGGTCCGTGGGGGCCCCCTGCCTGAAGGCCTGCTTTCTGAGGACCTGGCCCCA
GAAGATAACACCAGCAGCCTCACCCATGGTGCTGGCCAAGTCCTCTGTGGGAACCCCACCAAGGGCCTGCGGGAGCGTAGGCACCAGTGCCAGGCCAGGGAGCCC
CCCGAGCAGCTGCCCCAACACAGGCCAGGAGATCCGGCCGCCAGCACTTCCACCCCAGAGCCTGACCCTGCAGACAGCTCTGACTTCCTGGCCTTGGCTGGGCTC
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>LRRC56|115399|protein
MDLGWDRSRGPRRSTSSVRVRELSWQGLHNPCPQSKGPGSQRDRLGEQLVEEYLSPARLQALARVDDLRLVRTLEMCVDTREGSLGNFGVHLPNLDQLKLNGSHL
GSLRDLGTSLGHLQVLWLARCGLADLDGIASLPALKELYASYNNISDLSPLCLLEQLEVLDLEGNSVEDLGQVRYLQLCPRLAMLTLEGNLVCLQPAPGPTNKVP
RGYNYRAEVRKLIPQLQVLDEVPAAHTGPPAPPRLSQDWLAVKEAIKKGNGLPPLDCPRGAPIRRLDPELSLPETQSRASRPWPFSLLVRGGPLPEGLLSEDLAP
EDNTSSLTHGAGQVLCGNPTKGLRERRHQCQAREPPEQLPQHRPGDPAASTSTPEPDPADSSDFLALAGLRAWREHGVRPLPYRHPESQQEGAVAPWGPRRVPEE
QVHQAEPKTPSSPPSLASEPSGTSSQHLVPSPPKHPRPRDSGSSSPRWSTDLQSRGRRLRVLGSWGPGLGDGVAAVPVLRALEVASRLSPRAQGCPGPKPAPDAA
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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) 0 (0) 0 (0) 0 (2) 0 (0) 0 (0) 0 (3)
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
Gregory, 2009 USA aCGHASD - - - - 119 54 173
Linkage Studies Top