AutismKB 2.0

Evidence Details for LRRC8D


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Basic Information Top
Gene Symbol:LRRC8D ( FLJ10470,FLJ20403,LRRC5 )
Gene Full Name: leucine rich repeat containing 8 family, member D
Band: 1p22.2
Quick LinksEntrez ID:55144; OMIM: 612890; Uniprot ID:LRC8D_HUMAN; ENSEMBL ID: ENSG00000171492; HGNC ID: 16992
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>LRRC8D|55144|nucleotide
ATGTTTACCCTTGCGGAAGTTGCATCACTTAATGACATTCAGCCAACTTACCGAATCCTGAAACCATGGTGGGATGTGTTTATGGATTACCTAGCTGTTGTTATG
TTAATGGTAGCCATCTTTGCAGGAACCATGCAACTTACCAAAGATCAGGTGGTCTGTTTGCCAGTATTGCCATCTCCTGTAAATTCAAAGGCACATACACCACCA
GGAAATGCCGAGGTCACCACCAACATCCCAAAGATGGAAGCAGCCACCAACCAAGACCAAGATGGGCGGACAACAAACGACATTTCCTTTGGGACATCTGCTGTG
ACACCTGACATACCTCTCAGAGCCACATATCCTCGCACAGATTTCGCACTTCCAAATCAGGAGGCAAAGAAAGAGAAGAAAGATCCAACAGGTCGAAAAACAAAC
TTGGATTTTCAGCAATATGTATTTATTAATCAAATGTGTTACCATCTGGCCCTTCCGTGGTATTCTAAGTACTTTCCATACCTAGCTCTTATACATACTATTATT
CTCATGGTCAGTAGCAACTTTTGGTTCAAATATCCCAAAACATGCTCAAAAGTAGAACATTTTGTTTCAATATTAGGAAAGTGCTTTGAATCCCCTTGGACGACA
AAAGCGTTGTCTGAGACAGCATGCGAAGACTCAGAGGAAAACAAGCAGAGAATAACAGGTGCCCAGACTCTACCAAAGCATGTTTCTACCAGCAGTGATGAAGGG
AGCCCCAGTGCCAGTACACCAATGATCAATAAAACTGGCTTTAAATTTTCAGCTGAGAAGCCTGTGATTGAAGTTCCCAGCATGACAATCCTGGATAAAAAGGAT
GGAGAGCAGGCCAAAGCCCTGTTTGAGAAAGTGAGGAAGTTCCGTGCCCATGTGGAAGATAGTGACTTGATCTATAAACTCTATGTGGTCCAAACAGTTATCAAA
ACAGCCAAGTTCATTTTTATTCTCTGCTATACAGCGAACTTTGTCAACGCAATCAGCTTTGAACACGTCTGCAAGCCCAAAGTTGAGCATCTGATTGGTTATGAG
GTATTTGAGTGCACCCACAATATGGCTTACATGTTGAAAAAGCTTCTCATCAGTTACATATCCATTATTTGTGTTTATGGCTTTATCTGCCTCTACACTCTCTTC
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>LRRC8D|55144|protein
MFTLAEVASLNDIQPTYRILKPWWDVFMDYLAVVMLMVAIFAGTMQLTKDQVVCLPVLPSPVNSKAHTPPGNAEVTTNIPKMEAATNQDQDGRTTNDISFGTSAV
TPDIPLRATYPRTDFALPNQEAKKEKKDPTGRKTNLDFQQYVFINQMCYHLALPWYSKYFPYLALIHTIILMVSSNFWFKYPKTCSKVEHFVSILGKCFESPWTT
KALSETACEDSEENKQRITGAQTLPKHVSTSSDEGSPSASTPMINKTGFKFSAEKPVIEVPSMTILDKKDGEQAKALFEKVRKFRAHVEDSDLIYKLYVVQTVIK
TAKFIFILCYTANFVNAISFEHVCKPKVEHLIGYEVFECTHNMAYMLKKLLISYISIICVYGFICLYTLFWLFRIPLKEYSFEKVREESSFSDIPDVKNDFAFLL
HMVDQYDQLYSKRFGVFLSEVSENKLREISLNHEWTFEKLRQHISRNAQDKQELHLFMLSGVPDAVFDLTDLDVLKLELIPEAKIPAKISQMTNLQELHLCHCPA
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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) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 1 (1)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top