AutismKB 2.0

Evidence Details for LRBA


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Basic Information Top
Gene Symbol:LRBA ( BGL,CDC4L,DKFZp686A09128,DKFZp686K03100,DKFZp686P2258,FLJ16600,FLJ25686,LAB300,LBA,MGC72098 )
Gene Full Name: LPS-responsive vesicle trafficking, beach and anchor containing
Band: 4q31.3
Quick LinksEntrez ID:987; OMIM: 606453; Uniprot ID:LRBA_HUMAN; ENSEMBL ID: ENSG00000198589; HGNC ID: 1742
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>LRBA|987|nucleotide
ATGGCTAGCGAAGACAATCGTGTCCCTTCCCCGCCACCAACAGGTGATGACGGGGGAGGTGGAGGGAGAGAAGAAACCCCTACTGAAGGGGGTGCATTGTCTCTG
AAACCAGGGCTCCCCATCAGGGGCATCAGAATGAAATTTGCCGTGTTGACCGGTTTGGTTGAAGTTGGAGAAGTATCCAATAGGGATATTGTAGAAACTGTCTTT
AACCTGTTGGTAGGAGGACAGTTTGATCTGGAAATGAATTTCATTATCCAAGAAGGTGAGAGTATTAACTGCATGGTGGACCTACTGGAAAAATGTGACATTACG
TGCCAAGCAGAAGTCTGGAGCATGTTTACAGCCATTCTGAAGAAAAGCATACGGAATCTTCAAGTCTGCACTGAAGTAGGCCTTGTTGAAAAAGTGCTTGGGAAA
ATTGAAAAAGTTGACAATATGATAGCAGATCTTTTGGTTGACATGTTGGGAGTGCTGGCTAGCTATAATTTGACAGTTCGCGAGCTAAAGCTTTTCTTCAGTAAA
CTTCAAGGAGATAAAGGACGATGGCCTCCACATGCTGGGAAGTTGCTGTCTGTGTTAAAGCATATGCCTCAGAAGTATGGTCCTGATGCCTTTTTTAACTTTCCA
GGAAAGAGTGCTGCAGCTATTGCATTACCTCCTATAGCCAAATGGCCATACCAGAATGGTTTTACATTTCATACATGGCTTAGAATGGATCCTGTAAATAACATC
AATGTAGATAAGGATAAACCATATTTGTATTGTTTCAGAACCAGCAAAGGTCTTGGCTATTCTGCTCATTTTGTTGGAGGCTGTTTGATTGTAACATCAATAAAG
TCAAAAGGAAAAGGCTTTCAACACTGTGTGAAATTTGATTTCAAGCCACAAAAGTGGTATATGGTTACCATAGTACACATCTATAACCGATGGAAGAATAGTGAA
CTTCGATGTTATGTGAATGGTGAGCTGGCTTCCTATGGAGAGATAACATGGTTTGTCAACACTAGCGATACCTTTGACAAATGTTTCCTGGGCTCATCAGAAACA
GCAGATGCTAATAGAGTATTCTGTGGTCAGATGACTGCAGTTTACCTTTTCAGTGAAGCTCTAAATGCAGCTCAGATATTTGCTATTTATCAGTTGGGCCTGGGA
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>LRBA|987|protein
MASEDNRVPSPPPTGDDGGGGGREETPTEGGALSLKPGLPIRGIRMKFAVLTGLVEVGEVSNRDIVETVFNLLVGGQFDLEMNFIIQEGESINCMVDLLEKCDIT
CQAEVWSMFTAILKKSIRNLQVCTEVGLVEKVLGKIEKVDNMIADLLVDMLGVLASYNLTVRELKLFFSKLQGDKGRWPPHAGKLLSVLKHMPQKYGPDAFFNFP
GKSAAAIALPPIAKWPYQNGFTFHTWLRMDPVNNINVDKDKPYLYCFRTSKGLGYSAHFVGGCLIVTSIKSKGKGFQHCVKFDFKPQKWYMVTIVHIYNRWKNSE
LRCYVNGELASYGEITWFVNTSDTFDKCFLGSSETADANRVFCGQMTAVYLFSEALNAAQIFAIYQLGLGYKGTFKFKAESDLFLAEHHKLLLYDGKLSSAIAFT
YNPRATDAQLCLESSPKDNPSIFVHSPHALMLQDVKAVLTHSIQSAMHSIGGVQVLFPLFAQLDYRQYLSDEIDLTICSTLLAFIMELLKNSIAMQEQMLACKGF
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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) 1 (2) 0 (0) 0 (0) 1 (1) 0 (0) 0 (1) 0 (0) 0 (0) 3 (4)
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
Bucan, 2009 USA SNP microarrayautism, ASD 912 - 912 - - 1488 1488
Gai, 2011 AGRE SNP microarray--autism - - - - 1224 3801 5025
Linkage Studies Top