AutismKB 2.0

Evidence Details for FGD3


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Basic Information Top
Gene Symbol:FGD3 ( FLJ00004,MGC117260,ZFYVE5 )
Gene Full Name: FYVE, RhoGEF and PH domain containing 3
Band: 9q22.31
Quick LinksEntrez ID:89846; OMIM: NA; Uniprot ID:FGD3_HUMAN; ENSEMBL ID: ENSG00000127084; HGNC ID: 16027
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>FGD3|89846|nucleotide
ATGGAGTCAGGCAGGGGGTCCTCAACCCCTCCAGGACCCATTGCTGCCCTAGGGATGCCAGACACTGGGCCTGGCAGTTCCTCCCTAGGGAAGCTTCAGGCGCTC
CCTGTTGGGCCCAGAGCCCACTGTGGGGACCCTGTCAGCCTGGCTGCAGCAGGGGACGGCTCTCCAGACATAGGCCCCACGGGAGAGCTGAGTGGTAGCTTAAAG
ATCCCCAACCGGGACAGCGGGATCGACAGTCCCTCCTCCAGTGTGGCTGGAGAGAACTTTCCCTGCGAGGAGGGCTTGGAGGCTGGCCCAAGCCCCACTGTACTG
GGGGCGCACGCAGAGATGGCCCTGGACAGCCAGGTCCCGAAGGTCACCCCCCAGGAGGAGGCGGACAGCGACGTGGGTGAGGAACCTGACTCTGAGAACACCCCC
CAGAAGGCTGACAAGGATGCCGGCCTGGCCCAGCACTCTGGCCCCCAGAAGCTTCTCCACATTGCCCAGGAGCTCCTGCACACCGAGGAGACCTATGTGAAGCGG
CTGCACCTGCTGGACCAGGTTTTCTGCACCAGGCTGACGGATGCGGGGATCCCTCCAGAAGTCATCATGGGCATATTCTCTAACATCTCCTCCATCCACCGCTTC
CACGGGCAGTTCCTGCTGCCGGAGCTGAAGACGCGGATCACGGAGGAGTGGGACACAAACCCACGGCTCGGGGACATCCTGCAGAAGCTGGCCCCATTCCTGAAG
ATGTACGGCGAGTATGTCAAGAACTTTGACCGAGCCGTAGGGCTGGTGAGCACGTGGACCCAGCGCTCCCCACTGTTTAAAGACGTCGTCCACAGCATCCAGAAG
CAGGAGGTATGCGGGAACCTGACGCTGCAGCACCACATGCTGGAGCCCGTGCAGAGGGTCCCCCGGTACGAGCTGCTGCTCAAGGACTATCTGAAGAGGCTCCCG
CAGGACGCCCCAGACCGGAAGGATGCGGAGAGGTCCTTGGAGCTCATCTCCACAGCCGCCAACCACTCCAATGCTGCCATTCGGAAAGTGGAGAAAATGCACAAG
CTCTTGGAGGTGTACGAGCAGCTGGGTGGGGAAGAAGACATTGTCAACCCGGCCAATGAACTGATCAAGGAGGGCCAAATCCAGAAACTGTCAGCCAAGAACGGC
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>FGD3|89846|protein
MESGRGSSTPPGPIAALGMPDTGPGSSSLGKLQALPVGPRAHCGDPVSLAAAGDGSPDIGPTGELSGSLKIPNRDSGIDSPSSSVAGENFPCEEGLEAGPSPTVL
GAHAEMALDSQVPKVTPQEEADSDVGEEPDSENTPQKADKDAGLAQHSGPQKLLHIAQELLHTEETYVKRLHLLDQVFCTRLTDAGIPPEVIMGIFSNISSIHRF
HGQFLLPELKTRITEEWDTNPRLGDILQKLAPFLKMYGEYVKNFDRAVGLVSTWTQRSPLFKDVVHSIQKQEVCGNLTLQHHMLEPVQRVPRYELLLKDYLKRLP
QDAPDRKDAERSLELISTAANHSNAAIRKVEKMHKLLEVYEQLGGEEDIVNPANELIKEGQIQKLSAKNGTPQDRHLFLFNSMILYCVPKLRLMGQKFSVREKMD
ISGLQVQDIVKPNTAHTFIITGRKRSLELQTRTEEEKKEWIQIIQATIEKHKQNSETFKAFGGAFSQDEDPSLSPDMPITSTSPVEPVVTTEGSSGAAGLEPRKL
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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) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (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
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Linkage Studies Top