AutismKB 2.0

Evidence Details for LRRC8B


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Basic Information Top
Gene Symbol:LRRC8B ( KIAA0231,MGC42220,TA-LRRP,TALRRP )
Gene Full Name: leucine rich repeat containing 8 family, member B
Band: 1p22.2
Quick LinksEntrez ID:23507; OMIM: 612888; Uniprot ID:LRC8B_HUMAN; ENSEMBL ID: ENSG00000197147; HGNC ID: 30692
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>LRRC8B|23507|nucleotide
ATGATTACACTAACTGAGCTAAAATGCTTAGCAGATGCCCAGTCATCTTATCACATCTTAAAACCATGGTGGGACGTCTTCTGGTATTACATCACACTGATCATG
CTGCTGGTGGCCGTGCTGGCCGGAGCTCTCCAGCTGACGCAGAGCAGGGTTCTGTGCTGTCTTCCATGCAAAGTGGAATTTGACAATCACTGTGCCGTGCCTTGG
GACATCCTGAAAGCCAGCATGAACACATCCTCTAATCCTGGGACACCGCTTCCGCTCCCCCTCCGAATTCAGAATGACCTCCACCGACAGCAGTACTCCTATATT
GATGCCGTCTGTTACGAGAAACAGCTCCATTGGTTTGCAAAGTTTTTCCCCTATCTGGTGCTCTTGCACACGCTCATCTTTGCAGCCTGCAGCAACTTTTGGCTT
CACTACCCCAGTACCAGTTCCAGGCTCGAGCATTTTGTGGCCATCCTTCACAAGTGCTTCGATTCTCCATGGACCACCCGCGCCCTTTCAGAAACAGTGGCTGAG
CAGTCAGTGAGGCCTCTGAAACTCTCCAAGTCCAAGATTTTGCTTTCGTCCTCAGGGTGTTCAGCTGACATAGATTCCGGCAAACAGTCATTGCCCTACCCACAG
CCAGGTTTGGAGTCAGCTGGCATAGAAAGCCCAACTTCCAGTGTCCTGGACAAGAAGGAGGGTGAACAGGCCAAAGCCATCTTTGAAAAAGTGAAAAGATTCCGC
ATGCATGTGGAGCAGAAGGACATCATTTATAGAGTATATCTGAAACAGATAATAGTCAAAGTCATTTTGTTTGTGCTCATCATAACTTATGTTCCATATTTTTTA
ACCCACATCACTCTTGAAATCGACTGTTCAGTTGATGTGCAGGCTTTTACAGGATATAAGCGCTACCAGTGTGTCTATTCCTTGGCAGAAATCTTTAAGGTCCTG
GCTTCATTTTATGTCATTTTGGTTATACTTTATGGTCTGACCTCTTCCTACAGCCTGTGGTGGATGCTGAGGAGTTCCCTGAAGCAATATTCCTTTGAGGCGTTA
AGAGAAAAAAGCAACTACAGTGACATCCCTGATGTCAAGAATGACTTTGCCTTCATCCTTCATCTGGCTGATCAGTATGATCCTCTTTATTCCAAACGCTTCTCC
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>LRRC8B|23507|protein
MITLTELKCLADAQSSYHILKPWWDVFWYYITLIMLLVAVLAGALQLTQSRVLCCLPCKVEFDNHCAVPWDILKASMNTSSNPGTPLPLPLRIQNDLHRQQYSYI
DAVCYEKQLHWFAKFFPYLVLLHTLIFAACSNFWLHYPSTSSRLEHFVAILHKCFDSPWTTRALSETVAEQSVRPLKLSKSKILLSSSGCSADIDSGKQSLPYPQ
PGLESAGIESPTSSVLDKKEGEQAKAIFEKVKRFRMHVEQKDIIYRVYLKQIIVKVILFVLIITYVPYFLTHITLEIDCSVDVQAFTGYKRYQCVYSLAEIFKVL
ASFYVILVILYGLTSSYSLWWMLRSSLKQYSFEALREKSNYSDIPDVKNDFAFILHLADQYDPLYSKRFSIFLSEVSENKLKQINLNNEWTVEKLKSKLVKNAQD
KIELHLFMLNGLPDNVFELTEMEVLSLELIPEVKLPSAVSQLVNLKELRVYHSSLVVDHPALAFLEENLKILRLKFTEMGKIPRWVFHLKNLKELYLSGCVLPEQ
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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 (1) 0 (0) 0 (0) 0 (0) 0 (1)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top