AutismKB 2.0

Evidence Details for RABEP1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:RABEP1 ( RAB5EP,RABPT5 )
Gene Full Name: rabaptin, RAB GTPase binding effector protein 1
Band: 17p13.2
Quick LinksEntrez ID:9135; OMIM: 603616; Uniprot ID:RABE1_HUMAN; ENSEMBL ID: ENSG00000029725; HGNC ID: 17677
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>RABEP1|9135|nucleotide
ATGGCGCAGCCGGGCCCGGCTTCCCAGCCTGACGTTTCTCTTCAGCAACGGGTAGCAGAATTGGAAAAAATTAATGCAGAATTTTTACGTGCACAACAGCAGCTT
GAACAAGAATTTAATCAAAAGAGAGCAAAATTTAAGGAGTTATATTTGGCTAAAGAGGAGGATCTGAAGAGGCAAAATGCAGTATTACAAGCTGCACAAGATGAT
TTGGGACACCTTCGAACCCAGCTGTGGGAAGCTCAAGCAGAGATGGAGAATATTAAGGCGATTGCCACAGTCTCTGAGAACACCAAGCAAGAAGCTATAGATGAA
GTGAAAAGACAGTGGAGAGAAGAAGTTGCTTCACTTCAGGCTGTTATGAAAGAAACAGTTCGTGACTATGAGCACCAGTTCCACCTTAGGCTGGAGCAGGAGCGA
ACACAGTGGGCACAGTATAGAGAATCCGCAGAGAGGGAAATAGCTGATTTAAGAAGAAGGCTGTCTGAAGGTCAAGAGGAGGAAAATTTAGAAAATGAAATGAAA
AAGGCCCAAGAGGATGCTGAGAAACTTCGGTCCGTTGTGATGCCAATGGAAAAGGAAATTGCAGCTTTGAAGGATAAACTGACAGAGGCTGAAGACAAAATTAAA
GAGCTGGAGGCCTCAAAGGTTAAAGAACTGAATCATTATCTGGAAGCTGAGAAATCTTGTAGGACTGATCTAGAGATGTATGTAGCTGTTTTGAATACTCAGAAA
TCTGTTCTACAGGAAGATGCTGAGAAACTGCGGAAAGAATTGCATGAAGTTTGCCATCTCTTGGAGCAAGAGCGACAACAACACAACCAGTTAAAACATACGTGG
CAGAAGGCCAATGACCAGTTTCTGGAATCTCAGCGTTTACTGATGAGAGACATGCAGCGAATGGAGATTGTGCTAACTTCAGAACAGCTCCGACAAGTTGAAGAA
CTGAAGAAGAAAGATCAGGAGGATGATGAACAACAAAGACTCAATAAGAGAAAGGATCACAAAAAAGCAGATGTTGAGGAAGAAATAAAAATACCAGTAGTGTGT
GCTTTAACTCAAGAAGAATCTTCAGCCCAGTTATCAAATGAAGAGGAGCATTTAGACAGCACCCGTGGCTCAGTTCATTCCTTAGATGCAGGCTTGCTGTTGCCA
Show »

>RABEP1|9135|protein
MAQPGPASQPDVSLQQRVAELEKINAEFLRAQQQLEQEFNQKRAKFKELYLAKEEDLKRQNAVLQAAQDDLGHLRTQLWEAQAEMENIKAIATVSENTKQEAIDE
VKRQWREEVASLQAVMKETVRDYEHQFHLRLEQERTQWAQYRESAEREIADLRRRLSEGQEEENLENEMKKAQEDAEKLRSVVMPMEKEIAALKDKLTEAEDKIK
ELEASKVKELNHYLEAEKSCRTDLEMYVAVLNTQKSVLQEDAEKLRKELHEVCHLLEQERQQHNQLKHTWQKANDQFLESQRLLMRDMQRMEIVLTSEQLRQVEE
LKKKDQEDDEQQRLNKRKDHKKADVEEEIKIPVVCALTQEESSAQLSNEEEHLDSTRGSVHSLDAGLLLPSGDPFSKSDNDMFKDGLRRAQSTDSLGTSGSLQSK
ALGYNYKAKSAGNLDESDFGPLVGADSVSENFDTASLGSLQMPSGFMLTKDQERAIKAMTPEQEETASLLSSVTQGMESAYVSPSGYRLVSETEWNLLQKEVHNA
Show »

Evidence summary Top

Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
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 (1) 1 (1) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (3)
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
Bremer, 2011 - aCGHASD - - - - 223 - 223
Linkage Studies Top