AutismKB 2.0

Evidence Details for FGD1


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Basic Information Top
Gene Symbol:FGD1 ( AAS,FGDY,MRXS16,ZFYVE3 )
Gene Full Name: FYVE, RhoGEF and PH domain containing 1
Band: Xp11.22
Quick LinksEntrez ID:2245; OMIM: 300546; Uniprot ID:FGD1_HUMAN; ENSEMBL ID: ENSG00000102302; HGNC ID: 3663
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>FGD1|2245|nucleotide
ATGCATGGCCACCGAGCCCCGGGGGGCGCCGGGCCTTCGGAGCCCGAACACCCGGCCACGAACCCGCCGGGCGCCGCTCCGCCGGCCTGTGCCGACTCGGACCCT
GGAGCCTCGGAACCCGGACTGCTGGCGCGCAGGGGCTCAGGTTCGGCTCTTGGCGGCCCACTGGATCCCCAGTTTGTCGGACCCTCGGACACCAGCCTGGGCGCT
GCTCCAGGCCACCGGGTCTTGCCCTGCGGTCCCAGTCCACAGCACCACCGGGCCCTGCGCTTCTCTTACCACCTGGAGGGCTCGCAGCCTCGGCCTGGGCTGCAC
CAGGGAAACCGGATCCTGGTTAAAAGTTTGTCCCTTGACCCTGGCCAAAGCCTAGAGCCTCATCCAGAAGGTCCCCAGCGGCTTCGCTCAGACCCAGGTCCCCCG
ACTGAAACCCCTAGCCAGCGTCCTTCACCACTGAAGCGGGCACCGGGCCCGAAGCCACAGGTGCCCCCAAAGCCCAGCTACCTGCAGATGCCCCGGATGCCCCCC
CCACTGGAGCCCATCCCCCCTCCACCATCACGCCCACTGCCTGCCGACCCCCGAGTGGCCAAGGGCCTGGCTCCCAGGGCAGAGGCCAGCCCCAGTTCTGCAGCA
GTATCCTCACTGATTGAGAAGTTTGAAAGAGAGCCTGTGATTGTCGCCTCGGATAGACCAGTCCCTGGCCCCAGCCCAGGTCCCCCAGAGCCAGTCATGTTGCCA
CAGCCAACCTCGCAGCCACCAGTGCCCCAGCTCCCCGAGGGTGAGGCCTCCCGCTGCCTGTTTCTGCTGGCTCCTGGGCCCCGGGACGGTGAGAAGGTGCCCAAC
CGGGACAGCGGCATTGATAGCATCAGCTCGCCATCCAACAGCGAGGAGACCTGCTTCGTCAGTGATGACGGGCCCCCCAGCCACAGCCTCTGCCCTGGGCCCCCT
GCCCTGGCTAGTGTGCCTGTTGCCTTGGCCGACCCCCACCGGCCTGGCTCCCAAGAGGTTGACAGTGACCTGGAGGAGGAGGACGACGAGGAGGAGGAGGAAGAG
AAGGACAGAGAAATCCCAGTGCCCCTGATGGAGAGACAGGAGTCTGTGGAGTTGACTGTGCAGCAAAAGGTGTTTCACATTGCCAATGAGCTCCTGCAAACTGAG
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>FGD1|2245|protein
MHGHRAPGGAGPSEPEHPATNPPGAAPPACADSDPGASEPGLLARRGSGSALGGPLDPQFVGPSDTSLGAAPGHRVLPCGPSPQHHRALRFSYHLEGSQPRPGLH
QGNRILVKSLSLDPGQSLEPHPEGPQRLRSDPGPPTETPSQRPSPLKRAPGPKPQVPPKPSYLQMPRMPPPLEPIPPPPSRPLPADPRVAKGLAPRAEASPSSAA
VSSLIEKFEREPVIVASDRPVPGPSPGPPEPVMLPQPTSQPPVPQLPEGEASRCLFLLAPGPRDGEKVPNRDSGIDSISSPSNSEETCFVSDDGPPSHSLCPGPP
ALASVPVALADPHRPGSQEVDSDLEEEDDEEEEEEKDREIPVPLMERQESVELTVQQKVFHIANELLQTEKAYVSRLHLLDQVFCARLLEEARNRSSFPADVVHG
IFSNICSIYCFHQQFLLPELEKRMEEWDRYPRIGDILQKLAPFLKMYGEYVKNFDRAVELVNTWTERSTQFKVIIHEVQKEEACGNLTLQHHMLEPVQRIPRYEL
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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) Yes 0 (0) 1 (4) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 2 (5)
Syndromic Autism Gene Top
Abbreviations: AD, autosomal dominant; AR, autosomal recessive; ASD, autism spectrum disorder; ID, intellectual disability; XL, X linked.
InheritanceXL
OMIMAarskog-Scott syndrome (305400)
DescriptionAarskog-Scott syndrome (faciogenital dysplasia); non-syndromic X-linked ID. Four cases with a clinical diagnosis of Aarskog-Scott syndrome and ASD/autistic features have been described (not confirmed molecularly)
Reference(s)10382140; 18577494;
LevelLevel 3: The gene has been reported in more than one family with ASD/autistic features, but the disorder hasn't been a generally acknowledged ASD related disorder.
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
Qiao, 2008 USA, Canada aCGHASD - - - - 402 186 588
Edens, 2011 Honduras aCGHautism - - - - 1 - 1
Edens, 2011 Austria FISH, aCGHautism - - - - 1 - 1
Edens, 2011 Honduras aCGHautism - - - - 1 - 1
Edens, 2011 Austria FISH, aCGHautism - - - - 1 - 1
De Wolf V, 2014 - aCGH--syndromic autism - - - - 1 - 1
Linkage Studies Top