AutismKB 2.0

Evidence Details for IQSEC2


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Basic Information Top
Gene Symbol:IQSEC2 ( BRAG1,KIAA0522,MRX1 )
Gene Full Name: IQ motif and Sec7 domain 2
Band: Xp11.22
Quick LinksEntrez ID:23096; OMIM: 300522; Uniprot ID:IQEC2_HUMAN; ENSEMBL ID: ENSG00000124313; HGNC ID: 29059
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>IQSEC2|23096|nucleotide
ATGGAGGCGGGGTCGGGGCCCCCGGGCGGCCCGGGATCCGAGAGCCCAAATCGGGCCGTGGAGTACCTGCTGGAGCTGAACAACATCATCGAGAGCCAGCAGCAG
CTGCTGGAAACCCAGCGGCGGCGCATCGAGGAGCTGGAGGGCCAGCTGGACCAGCTCACCCAGGAGAACCGCGACCTGCGAGAGGAGAGCCAGCTGCACCGCGGG
GAGCTGCACCGGGACCCCCACGGCGCGCGGGATAGCCCGGGCCGCGAGAGCCAGTACCAGAACCTGCGCGAGACCCAGTTCCACCACCGCGAGCTGCGGGAGAGC
CAGTTCCACCAGGCGGCCCGGGACGTGGGCTACCCGAACCGGGAAGGCGCCTACCAGAATCGGGAGGCTGTGTATCGGGACAAGGAGCGGGACGCCTCCTACCCG
CTCCAGGACACTACCGGTTACACAGCCCGCGAGCGTGACGTGGCCCAGTGCCACCTGCACCACGAGAACCCAGCCCTGGGTCGCGAGCGTGGCGGGCGGGAGGCC
GGGCCGGCGCACCCGGGCCGCGAGAAGGAAGCGGGCTATTCGGCGGCGGTGGGCGTGGGGCCGCGGCCACCGCGGGAGCGGGGCCAGCTGAGCCGTGGCGCATCC
AGGAGCTCCAGTCCCGGCGCCGGCGGAGGCCACAGCACCAGTACCAGCACCAGCCCGGCCACGACCCTCCAGAGAAAATCTGATGGTGAGAATTCCAGAACAGTC
AGTGTGGAGGGTGATGCCCCAGGCAGTGACCTGAGCACAGCGGTTGATAGTCCTGGGAGCCAACCCCCCTACCGGCTGAGCCAGCTGCCCCCCTCCAGCAGCCAC
ATGGGGGGCCCCCCTGCTGGAGTGGGCCTTCCCTGGGCTCAGCGGGCACGCCTCCAGCCAGCCAGTGTCGCCCTGAGGAAGCAGGAGGAGGAGGAGATAAAGCGC
TCCAAGGCCCTATCGGACAGCTATGAACTCTCCACAGACCTGCAGGACAAGAAGGTGGAAATGCTGGAGAGGAAGTATGGGGGCTCCTTCCTGAGCCGCAGGGCT
GCCAGGACCATCCAGACAGCCTTCCGCCAGTACCGCATGAACAAGAACTTTGAGCGGCTACGCAGCTCAGCCTCAGAGAGCCGCATGTCCCGCCGCATCATCCTT
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>IQSEC2|23096|protein
MEAGSGPPGGPGSESPNRAVEYLLELNNIIESQQQLLETQRRRIEELEGQLDQLTQENRDLREESQLHRGELHRDPHGARDSPGRESQYQNLRETQFHHRELRES
QFHQAARDVGYPNREGAYQNREAVYRDKERDASYPLQDTTGYTARERDVAQCHLHHENPALGRERGGREAGPAHPGREKEAGYSAAVGVGPRPPRERGQLSRGAS
RSSSPGAGGGHSTSTSTSPATTLQRKSDGENSRTVSVEGDAPGSDLSTAVDSPGSQPPYRLSQLPPSSSHMGGPPAGVGLPWAQRARLQPASVALRKQEEEEIKR
SKALSDSYELSTDLQDKKVEMLERKYGGSFLSRRAARTIQTAFRQYRMNKNFERLRSSASESRMSRRIILSNMRMQFSFEEYEKAQNPAYFEGKPASLDEGAMAG
ARSHRLERGLPYGGSCGGGIDGGGSSVTTSGEFSNDITELEDSFSKQVKSLAESIDEALNCHPSGPMSEEPGSAQLEKRESKEQQEDSSATSFSDLPLYLDDTVP
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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 (3) 0 (0) 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 12 (4)
Syndromic Autism Gene Top
Abbreviations: AD, autosomal dominant; AR, autosomal recessive; ASD, autism spectrum disorder; ID, intellectual disability; XL, X linked.
InheritanceXL
OMIMMental retardation, X-linked 1 (309530)
DescriptionNon-syndromic X-linked ID; mutations in 4 large pedigrees, 2 of which include individuals with ASD/autistic traits
Reference(s)20473311;
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
Edens, 2011 Austria FISH, aCGHautism - - - - 1 - 1
Edens, 2011 Honduras aCGHautism - - - - 1 - 1
Edens, 2011 Austria FISH, aCGHautism - - - - 1 - 1
Edens, 2011 Honduras aCGHautism - - - - 1 - 1
Fieremans N, 2015 - X chromosome-specific aCGH--- 1 1 - - 1 - 1
Linkage Studies Top