AutismKB 2.0

Evidence Details for RAB2B


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Basic Information Top
Gene Symbol:RAB2B ( FLJ14824 )
Gene Full Name: RAB2B, member RAS oncogene family
Band: 14q11.2
Quick LinksEntrez ID:84932; OMIM: 607466; Uniprot ID:RAB2B_HUMAN; ENSEMBL ID: ENSG00000129472; HGNC ID: 20246
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>RAB2B|84932|nucleotide
ATGGTCAACATTGATGGAAAACAAATCAAACTGCAAATCTGGGATACGGCTGGGCAAGAATCCTTCCGTTCTATCACCCGTTCCTACTACAGGGGAGCAGCTGGA
GCACTGCTGGTGTACGACATTACAAGGCGTGAAACCTTCAACCACCTGACCTCATGGTTAGAGGATGCCCGGCAGCACTCTAGTTCCAACATGGTTATCATGCTC
ATTGGGAATAAGAGTGACCTAGAGTCCCGCAGGGATGTGAAGAGAGAAGAAGGAGAGGCCTTTGCTAGGGAGCATGGACTTATATTCATGGAAACTTCAGCCAAA
ACAGCCTGCAATGTTGAAGAGGCCTTCATTAACACAGCCAAAGAAATATATAGGAAGATCCAGCAGGGTTTATTTGATGTCCACAATGAGGCAAATGGCATCAAG
ATTGGGCCCCAACAGTCAATTTCAACATCAGTGGGACCCAGTGCCTCCCAGCGGAACTCTCGTGACATAGGGTCCAACTCTGGCTGCTGCTGA






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>RAB2B|84932|protein
MVNIDGKQIKLQIWDTAGQESFRSITRSYYRGAAGALLVYDITRRETFNHLTSWLEDARQHSSSNMVIMLIGNKSDLESRRDVKREEGEAFAREHGLIFMETSAK
TACNVEEAFINTAKEIYRKIQQGLFDVHNEANGIKIGPQQSISTSVGPSASQRNSRDIGSNSGCC



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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 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 2 (2)
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
Prontera P, 2014 - aCGHASD - - - - 1 - 1
Linkage Studies Top