AutismKB 2.0

Evidence Details for LRRC8E


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Basic Information Top
Gene Symbol:LRRC8E ( FLJ23420 )
Gene Full Name: leucine rich repeat containing 8 family, member E
Band: 19p13.2
Quick LinksEntrez ID:80131; OMIM: 612891; Uniprot ID:LRC8E_HUMAN; ENSEMBL ID: ENSG00000171017; HGNC ID: 26272
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>LRRC8E|80131|nucleotide
ATGATCCCAGTGGCCGAGTTCAAGCAGTTCACGGAACAGCAGCCTGCGTTCAAGGTGCTCAAACCCTGGTGGGACGTGCTGGCCGAGTACCTCACCGTGGCCATG
CTCATGATTGGGGTCTTTGGCTGCACCCTCCAGGTGACACAGGACAAGATCATCTGTCTACCCAATCATGAGCTCCAGGAGAACTTATCAGAGGCCCCGTGCCAG
CAATTGCTGCCTCGGGGGATCCCTGAGCAGATTGGGGCCCTGCAGGAGGTTAAAGGCCTTAAGAACAATTTGGACCTGCAGCAATACAGCTTTATTAACCAGCTG
TGTTATGAGACGGCCCTGCACTGGTATGCCAAGTACTTCCCTTACCTCGTGGTCATTCACACACTCATCTTCATGGTCTGCACCAGTTTCTGGTTCAAGTTCCCT
GGCACCAGCTCCAAGATTGAACACTTCATCTCCATCCTGGGCAAGTGTTTCGACTCTCCATGGACCACCAGGGCCCTATCCGAGGTCTCCGGGGAGAACCAGAAG
GGCCCAGCAGCCACCGAACGGGCTGCGGCCACCATAGTGGCCATGGCAGGGACCGGGCCGGGGAAGGCAGGGGAGGGTGAGAAGGAGAAAGTGCTGGCGGAACCG
GAGAAGGTGGTGACCGAGCCTCCAGTTGTCACCCTGTTGGACAAGAAGGAGGGTGAGCAAGCCAAAGCCCTGTTTGAGAAGGTGAAGAAGTTCCGCATGCACGTG
GAAGAGGGCGACATCCTGTACACCATGTACATCCGACAGACGGTGCTGAAAGTGTGTAAGTTCCTGGCCATCCTGGTCTACAACCTGGTCTATGTGGAGAAGATC
AGTTTCCTGGTGGCCTGTAGGGTGGAGACGTCAGAGGTCACGGGCTACGCCAGCTTCTGCTGCAACCACACCAAGGCCCACCTCTTCTCCAAGCTGGCCTTCTGT
TACATCTCCTTTGTGTGCATCTACGGACTTACCTGCATCTACACGCTCTACTGGCTCTTCCACCGGCCCCTCAAGGAGTACTCCTTCCGTTCCGTGCGGGAGGAG
ACTGGCATGGGGGACATTCCTGACGTCAAGAATGACTTCGCCTTCATGCTGCACCTCATCGATCAGTACGACTCCCTCTACTCCAAGCGCTTCGCCGTCTTCCTG
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>LRRC8E|80131|protein
MIPVAEFKQFTEQQPAFKVLKPWWDVLAEYLTVAMLMIGVFGCTLQVTQDKIICLPNHELQENLSEAPCQQLLPRGIPEQIGALQEVKGLKNNLDLQQYSFINQL
CYETALHWYAKYFPYLVVIHTLIFMVCTSFWFKFPGTSSKIEHFISILGKCFDSPWTTRALSEVSGENQKGPAATERAAATIVAMAGTGPGKAGEGEKEKVLAEP
EKVVTEPPVVTLLDKKEGEQAKALFEKVKKFRMHVEEGDILYTMYIRQTVLKVCKFLAILVYNLVYVEKISFLVACRVETSEVTGYASFCCNHTKAHLFSKLAFC
YISFVCIYGLTCIYTLYWLFHRPLKEYSFRSVREETGMGDIPDVKNDFAFMLHLIDQYDSLYSKRFAVFLSEVSESRLKQLNLNHEWTPEKLRQKLQRNAAGRLE
LALCMLPGLPDTVFELSEVESLRLEAICDITFPPGLSQLVHLQELSLLHSPARLPFSLQVFLRDHLKVMRVKCEELREVPLWVFGLRGLEELHLEGLFPQELARA
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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 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (2) 0 (0) 0 (2)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top