AutismKB 2.0

Evidence Details for SMC1A


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:SMC1A ( CDLS2,DKFZp686L19178,DXS423E,KIAA0178,MGC138332,SB1.8,SMC1,SMC1L1,SMC1alpha,SMCB )
Gene Full Name: structural maintenance of chromosomes 1A
Band: Xp11.22
Quick LinksEntrez ID:8243; OMIM: 300040; Uniprot ID:SMC1A_HUMAN; ENSEMBL ID: ENSG00000072501; HGNC ID: 11111
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SMC1A|8243|nucleotide
ATGGGGTTCCTGAAACTGATTGAGATTGAGAACTTTAAGTCGTACAAGGGTCGACAGATTATCGGACCATTTCAGAGGTTCACCGCCATCATTGGACCCAATGGC
TCTGGTAAGTCAAATCTCATGGATGCCATCAGCTTTGTGCTAGGTGAAAAAACCAGCAACCTGCGGGTAAAGACCCTGCGGGACCTGATCCATGGAGCTCCTGTG
GGCAAGCCAGCTGCCAACCGGGCCTTTGTCAGCATGGTCTACTCTGAGGAGGGTGCTGAGGACCGTACCTTTGCCCGTGTCATTGTAGGAGGTTCTTCTGAGTAC
AAGATCAACAACAAAGTGGTCCAACTACATGAGTACAGTGAGGAATTAGAGAAGTTGGGCATTCTCATCAAAGCTCGTAACTTCCTCGTTTTCCAGGGTGCTGTG
GAATCTATTGCCATGAAGAACCCCAAAGAGAGGACAGCTCTATTTGAAGAGATTAGTCGTTCTGGGGAGCTGGCGCAGGAGTATGACAAGCGAAAGAAGGAAATG
GTGAAGGCTGAAGAGGACACACAGTTTAATTACCATCGCAAGAAAAATATTGCGGCTGAACGCAAGGAAGCAAAGCAGGAGAAAGAAGAGGCTGACCGGTACCAG
CGCCTGAAGGATGAGGTAGTACGGGCTCAGGTACAGCTGCAGCTCTTTAAGCTTTACCATAATGAAGTGGAAATTGAGAAGCTCAACAAGGAACTGGCCTCAAAG
AACAAGGAGATCGAGAAGGACAAGAAGCGTATGGACAAGGTGGAGGATGAACTGAAGGAGAAGAAGAAGGAGCTGGGCAAAATGATGCGGGAGCAGCAGCAGATT
GAGAAGGAGATCAAGGAGAAGGACTCAGAATTGAACCAGAAGCGGCCTCAGTACATCAAAGCCAAGGAGAACACCTCCCACAAAATCAAGAAGCTGGAAGCAGCC
AAGAAGTCTCTGCAGAATGCTCAGAAGCACTACAAGAAGCGTAAAGGTGACATGGATGAGCTGGAGAAGGAGATGCTGTCAGTGGAGAAGGCTCGGCAGGAGTTT
GAAGAACGGATGGAAGAAGAGAGTCAGAGTCAGGGCAGAGATTTGACGTTGGAGGAGAATCAGGTGAAGAAATACCACCGGTTGAAAGAAGAAGCCAGCAAGAGA
Show »

>SMC1A|8243|protein
MGFLKLIEIENFKSYKGRQIIGPFQRFTAIIGPNGSGKSNLMDAISFVLGEKTSNLRVKTLRDLIHGAPVGKPAANRAFVSMVYSEEGAEDRTFARVIVGGSSEY
KINNKVVQLHEYSEELEKLGILIKARNFLVFQGAVESIAMKNPKERTALFEEISRSGELAQEYDKRKKEMVKAEEDTQFNYHRKKNIAAERKEAKQEKEEADRYQ
RLKDEVVRAQVQLQLFKLYHNEVEIEKLNKELASKNKEIEKDKKRMDKVEDELKEKKKELGKMMREQQQIEKEIKEKDSELNQKRPQYIKAKENTSHKIKKLEAA
KKSLQNAQKHYKKRKGDMDELEKEMLSVEKARQEFEERMEEESQSQGRDLTLEENQVKKYHRLKEEASKRAATLAQELEKFNRDQKADQDRLDLEERKKVETEAK
IKQKLREIEENQKRIEKLEEYITTSKQSLEEQKKLEGELTEEVEMAKRRIDEINKELNQVMEQLGDARIDRQESSRQQRKAEIMESIKRLYPGSVYGRLIDLCQP
Show »

Evidence summary Top

Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
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 (2) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 2 (2)
Syndromic Autism Gene Top
Abbreviations: AD, autosomal dominant; AR, autosomal recessive; ASD, autism spectrum disorder; ID, intellectual disability; XL, X linked.
InheritanceXL
OMIMCornelia de Lange syndrome 2 (300590)
DescriptionCornelia de Lange syndrome (see NIPBL above, 5p13.2)
Reference(s)17273969;
LevelLevel 1: The gene has only been reported in single cases with ASD/autistic features. Additional evidences are needed.
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
Linkage Studies Top