AutismKB 2.0

Evidence Details for GBF1


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Basic Information Top
Gene Symbol:GBF1 ( ARF1GEF,FLJ21263,FLJ21500,KIAA0248,MGC134877,MGC134878 )
Gene Full Name: golgi brefeldin A resistant guanine nucleotide exchange factor 1
Band: 10q24.32
Quick LinksEntrez ID:8729; OMIM: 603698; Uniprot ID:GBF1_HUMAN; ENSEMBL ID: ENSG00000107862; HGNC ID: 4181
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>GBF1|8729|nucleotide
ATGGTGGATAAGAATATTTACATCATTCAAGGGGAGATTAACATTGTGGTTGGGGCCATCAAACGAAATGCCCGATGGAGCACCCATACACCACTGGATGAAGAA
CGGGATCCTCTGCTGCATAGTTTCGGTCATCTAAAGGAGGTTTTAAACAGTATAACAGAACTCTCAGAAATTGAGCCCAATGTATTCCTTCGACCTTTTCTGGAA
GTGATTCGCTCTGAAGATACCACTGGCCCTATCACTGGACTGGCACTCACCTCTGTCAACAAGTTCCTGTCCTATGCACTCATAGATCCCACCCATGAGGGCACA
GCAGAGGGCATGGAGAACATGGCAGATGCTGTCACCCATGCTCGTTTTGTGGGCACGGATCCTGCCAGTGATGAAGTTGTCCTGATGAAAATCCTTCAGGTTCTA
CGGACTCTGCTGCTAACCCCAGTGGGTGCCCACCTAACCAATGAATCTGTGTGTGAGATTATGCAGTCTTGCTTCCGGATCTGCTTTGAAATGAGGCTCAGTGAG
TTATTGAGAAAATCCGCAGAGCACACTCTCGTAGACATGGTGCAGCTGCTCTTCACAAGGTTACCTCAGTTTAAAGAAGAACCCAAGAACTATGTGGGGACCAAC
ATGAAGAAGCTGAAAATGAGAGCCGGAGGCATGAGTGATTCATCCAAATGGAAGAAACAGAAGAGATCCCCTCGGCCCCCACGCCATATGACCAAAGTCACACCA
GGTTCAGAGCTGCCCACTCCCAATGGAACCACCTTATCATCTAACCTCACTGGTGGCATGCCCTTCATTGATGTGCCCACTCCCATCTCCTCTGCAAGTTCAGAA
GCTGCCTCAGCAGTGGTCAGTCCCTCTACAGACAGTGGCCTGGAATTCTCCTCCCAAACCACTTCCAAGGAAGACCTTACTGATCTAGAGCAACCTGGCTCTCCA
GGGTACAGCACAGCTACAGAGCCTGGAAGCAGTGAGCTAGGTGTTCCCGAGCAGCCTGACCTCCAGCAGGAAGGGACCCATGTGGAAAAGTCCCAGTCAGCATCT
GTGGAGTCCATCCCTGAAGTGTTAGAGGAGTGCACGTCCCCTGCCGACCACTCTGACTCTGCCTCTGTCCATGACATGGATTACGTCAATCCCCGGGGCGTGCGC
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>GBF1|8729|protein
MVDKNIYIIQGEINIVVGAIKRNARWSTHTPLDEERDPLLHSFGHLKEVLNSITELSEIEPNVFLRPFLEVIRSEDTTGPITGLALTSVNKFLSYALIDPTHEGT
AEGMENMADAVTHARFVGTDPASDEVVLMKILQVLRTLLLTPVGAHLTNESVCEIMQSCFRICFEMRLSELLRKSAEHTLVDMVQLLFTRLPQFKEEPKNYVGTN
MKKLKMRAGGMSDSSKWKKQKRSPRPPRHMTKVTPGSELPTPNGTTLSSNLTGGMPFIDVPTPISSASSEAASAVVSPSTDSGLEFSSQTTSKEDLTDLEQPGSP
GYSTATEPGSSELGVPEQPDLQQEGTHVEKSQSASVESIPEVLEECTSPADHSDSASVHDMDYVNPRGVRFTQSSQKEGTALVPYGLPCIRELFRFLISLTNPHD
RHNSEVMIHMGLHLLTVALESAPVAQCQTLLGLIKDEMCRHLFQLLSIERLNLYAASLRVCFLLFESMREHLKFQMEMYIKKLMEIITVENPKMPYEMKEMALEA
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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 (0) 0 (0) (0)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top