AutismKB 2.0

Evidence Details for LRCH3


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Basic Information Top
Gene Symbol:LRCH3 ( FLJ20994,FLJ43245,FLJ44976,MGC4126 )
Gene Full Name: leucine-rich repeats and calponin homology (CH) domain containing 3
Band: 3q29
Quick LinksEntrez ID:84859; OMIM: NA; Uniprot ID:LRCH3_HUMAN; ENSEMBL ID: ENSG00000186001; HGNC ID: 28637
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>LRCH3|84859|nucleotide
ATGGCGGCCGCGGGCTTGGTCGCTGTGGCAGCGGCTGCCGAGTACTCTGGCACGGTAGCGTCGGGAGGTAACCTCCCTGGTGTTCACTGCGGCCCAAGCTCCGGG
GCAGGCCCTGGTTTTGGCCCGGGCTCGTGGAGCCGCTCTCTCGATCGAGCCCTGGAGGAGGCGGCGGTCACTGGGGTGCTGAGCCTGAGCGGCCGGAAACTGAGG
GAGTTTCCCCGGGGAGCGGCCAACCACGACCTGACGGACACCACCCGGGCGGACCTGTCGCGAAATCGCCTTTCAGAAATTCCTATAGAAGCATGTCACTTTGTT
TCTCTGGAAAATCTCAACTTGTACCAAAATTGTATTCGTTATATTCCAGAGGCAATTTTAAACCTACAAGCTCTAACATTCTTAAATATTAGTCGGAACCAACTG
TCAACATTGCCGGTACACTTGTGTAATTTGCCATTGAAAGTCTTAATTGCTAGTAATAACAAATTGGTGTCACTTCCAGAAGAAATTGGACACCTTAGACATTTG
ATGGAACTTGATGTGAGCTGCAATGAAATTCAAACTATACCTTCCCAAATTGGTAACCTGGAGGCCTTGAGAGACCTTAATGTAAGAAGAAATCACCTAGTACAT
TTGCCTGAAGAGCTGGCGGAGTTGCCTTTGATACGGTTAGACTTCTCATGCAATAAAATTACCACAATCCCTGTTTGTTATCGGAACCTCAGGCACCTACAGACG
ATCACCCTAGATAACAATCCACTACAATCACCTCCTGCACAGATATGTATAAAAGGCAAAGTCCACATATTTAAATACCTGAACATACAAGCTTGTAAGATTGCT
CCAGATCTGCCGGATTATGATAGGAGACCGTTGGGTTTTGGCTCCTGCCATGAAGAACTGTACTCAAGTCGCCCTTATGGAGCCCTTGATTCAGGCTTCAATAGT
GTGGACAGTGGTGATAAGAGATGGTCAGGGAATGAACCTACAGATGAATTTTCAGATCTGCCTCTTCGAGTAGCAGAGATTACTAAAGAACAAAGACTACGAAGA
GAAAGCCAGTACCAAGAGAACCGCGGCAGTTTGGTAGTAACAAACGGCGGAGTGGAACATGATCTGGATCAGATTGACTACATAGACAGCTGCACCGCAGAGGAA
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>LRCH3|84859|protein
MAAAGLVAVAAAAEYSGTVASGGNLPGVHCGPSSGAGPGFGPGSWSRSLDRALEEAAVTGVLSLSGRKLREFPRGAANHDLTDTTRADLSRNRLSEIPIEACHFV
SLENLNLYQNCIRYIPEAILNLQALTFLNISRNQLSTLPVHLCNLPLKVLIASNNKLVSLPEEIGHLRHLMELDVSCNEIQTIPSQIGNLEALRDLNVRRNHLVH
LPEELAELPLIRLDFSCNKITTIPVCYRNLRHLQTITLDNNPLQSPPAQICIKGKVHIFKYLNIQACKIAPDLPDYDRRPLGFGSCHEELYSSRPYGALDSGFNS
VDSGDKRWSGNEPTDEFSDLPLRVAEITKEQRLRRESQYQENRGSLVVTNGGVEHDLDQIDYIDSCTAEEEEAEVRQPKGPDPDSLSSQFMAYIEQRRISHEGSP
VKPVAIREFQKTEDMRRYLHQNRVPAEPSSLLSLSASHNQLSHTDLELHQRREQLVERTRREAQLAALQYEEEKIRTKQIQRDAVLDFVKQKASQSPQKQHPLLD
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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 (2) 1 (1) 0 (0) 0 (0) 0 (1) 1 (1) 0 (0) 0 (0) 3 (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
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Linkage Studies Top