AutismKB 2.0

Evidence Details for RABL2A


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Basic Information Top
Gene Symbol:RABL2A ( FLJ78724,MGC117180 )
Gene Full Name: RAB, member of RAS oncogene family-like 2A
Band: 2q14.1
Quick LinksEntrez ID:11159; OMIM: 605412; Uniprot ID:RBL2A_HUMAN; ENSEMBL ID: ENSG00000144134; HGNC ID: 9799
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>RABL2A|11159|nucleotide
ATGGCAGAAGACAAAACCAAACCGAGTGAGTTGGACCAAGGGAAGTATGATGCTGATGACAACGTGAAGATCATCTGCCTGGGAGACAGCGCAGTGGGCAAATCC
AAACTCATGGAGAGATTTCTCATGGATGGCTTTCAGCCACAGCAGCTGTCCACGTACGCCCTGACCCTGTACAAGCACACAGCCACGGTAGATGGCAAGACCATC
CTTGTGGACTTTTGGGACACGGCAGGCCAGGAGCGGTTCCAGAGCATGCATGCCTCCTACTACCACAAGGCCCATGCCTGCATCATGGTGTTTGATATACAGAGG
AAAGTCACCTATAGGAACCTGAGCACCTGGTATACAGAGCTTCGGGAGTTCAGGCCAGAGATCCCATGCATCGTGGTGGCCAATAAAATTGATGACATAAACGTG
ACCCAAAAAAGCTTCAATTTTGCCAAGAAGTTCTCCCTGCCCCTGTATTTCGTCTCGGCTGCTGATGGTACCAATGTTGTGAAGCTCTTCAATGATGCAATTCGA
TTAGCTGTGTCTTACAAACAGAACTCCCAGGACTTCATGGATGAGATTTTTCAGGAGCTCGAGAACTTCAGCTTGGAGCAGGAAGAGGAGGACGTGCCAGACCAG
GAACAGAGCAGCAGCATCGAGACCCCATCAGAGGAGGTGGCCTCTCCCCACAGCTGA




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>RABL2A|11159|protein
MAEDKTKPSELDQGKYDADDNVKIICLGDSAVGKSKLMERFLMDGFQPQQLSTYALTLYKHTATVDGKTILVDFWDTAGQERFQSMHASYYHKAHACIMVFDIQR
KVTYRNLSTWYTELREFRPEIPCIVVANKIDDINVTQKSFNFAKKFSLPLYFVSAADGTNVVKLFNDAIRLAVSYKQNSQDFMDEIFQELENFSLEQEEEDVPDQ
EQSSSIETPSEEVASPHS


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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 (1) 0 (0) 0 (1)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top