AutismKB 2.0

Evidence Details for RABGEF1


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Basic Information Top
Gene Symbol:RABGEF1 ( FLJ32302,RABEX5,rabex-5 )
Gene Full Name: RAB guanine nucleotide exchange factor (GEF) 1
Band: 7q11.21
Quick LinksEntrez ID:27342; OMIM: 609700; Uniprot ID:RABX5_HUMAN; ENSEMBL ID: ENSG00000154710,ENSG00000243335; HGNC ID: 17676
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>RABGEF1|27342|nucleotide
ATGAGCCTTAAGTCTGAACGCCGAGGAATTCATGTGGATCAATCGGATCTCCTGTGCAAGAAAGGATGTGGTTACTACGGCAACCCTGCCTGGCAGGGTTTCTGC
TCCAAGTGCTGGAGGGAAGAGTACCACAAAGCCAGGCAGAAGCAGATTCAGGAGGACTGGGAGCTGGCGGAGCGACTCCAGCGGGAGGAAGAAGAGGCCTTTGCC
AGCAGTCAGAGCAGCCAAGGGGCCCAATCCCTCACATTCTCCAAGTTTGAAGAAAAGAAAACCAACGAGAAGACCCGCAAGGTTACCACAGTGAAGAAATTCTTC
AGTGCATCTTCCAGGGTCGGATCAAAGAAGGAAATTCAGGAAGCAAAAGCTCCCAGTCCTTCCATAAACCGGCAAACCAGCATTGAAACGGATAGAGTGTCTAAG
GAGTTCATAGAATTTCTCAAGACCTTCCACAAGACAGGCCAAGAAATCTATAAACAGACCAAGCTGTTTTTGGAAGGAATGCATTACAAAAGGGATCTAAGCATT
GAAGAACAGTCAGAGTGTGCTCAGGATTTCTACCACAATGTGGCCGAAAGGATGCAAACTCGTGGGAAAGTGCCTCCAGAAAGAGTCGAGAAGATAATGGATCAG
ATTGAAAAGTACATCATGACTCGTCTCTATAAATATGTATTCTGTCCAGAAACTACTGATGATGAGAAGAAAGATCTTGCCATTCAAAAGAGAATCAGAGCCCTG
CGCTGGGTTACGCCTCAGATGCTGTGTGTCCCTGTTAATGAAGACATCCCAGAAGTGTCTGATATGGTGGTGAAGGCGATCACAGATATCATTGAAATGGATTCC
AAGCGTGTGCCTCGAGACAAGCTGGCCTGCATCACCAAGTGCAGCAAGCACATCTTCAATGCCATCAAGATCACCAAGAATGAGCCGGCGTCAGCGGATGACTTC
CTCCCCACCCTCATCTACATTGTTTTGAAGGGCAACCCCCCACGCCTTCAGTCTAATATCCAGTATATCACGCGCTTCTGCAATCCAAGCCGACTGATGACTGGA
GAGGATGGCTACTATTTCACCAATCTGTGCTGTGCTGTGGCTTTCATTGAGAAGCTAGACGCCCAGTCTTTGAATCTAAGTCAGGAGGATTTTGATCGCTACATG
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>RABGEF1|27342|protein
MSLKSERRGIHVDQSDLLCKKGCGYYGNPAWQGFCSKCWREEYHKARQKQIQEDWELAERLQREEEEAFASSQSSQGAQSLTFSKFEEKKTNEKTRKVTTVKKFF
SASSRVGSKKEIQEAKAPSPSINRQTSIETDRVSKEFIEFLKTFHKTGQEIYKQTKLFLEGMHYKRDLSIEEQSECAQDFYHNVAERMQTRGKVPPERVEKIMDQ
IEKYIMTRLYKYVFCPETTDDEKKDLAIQKRIRALRWVTPQMLCVPVNEDIPEVSDMVVKAITDIIEMDSKRVPRDKLACITKCSKHIFNAIKITKNEPASADDF
LPTLIYIVLKGNPPRLQSNIQYITRFCNPSRLMTGEDGYYFTNLCCAVAFIEKLDAQSLNLSQEDFDRYMSGQTSPRKQEAESWSPDACLGVKQMYKNLDLLSQL
NERQERIMNEAKKLEKDLIDWTDGIAREVQDIVEKYPLEIKPPNQPLAAIDSENVENDKLPPPLQPQVYAG
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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 (1) 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 1 (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
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Linkage Studies Top