AutismKB 2.0

Evidence Details for SMARCE1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:SMARCE1 ( BAF57 )
Gene Full Name: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1
Band: 17q21.2
Quick LinksEntrez ID:6605; OMIM: 603111; Uniprot ID:SMCE1_HUMAN; ENSEMBL ID: ENSG00000073584; HGNC ID: 11109
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SMARCE1|6605|nucleotide
ATGTCAAAAAGACCATCTTATGCCCCACCTCCCACCCCAGCTCCTGCAACACAAATGCCCAGCACACCAGGGTTTGTGGGATACAATCCATACAGTCATCTCGCC
TACAACAACTACAGGCTGGGAGGGAACCCGGGCACCAACAGCCGGGTCACGGCATCCTCTGGTATCACGATTCCAAAACCCCCAAAGCCACCAGATAAGCCGCTG
ATGCCCTACATGAGGTACAGCAGAAAGGTCTGGGACCAAGTAAAGGCTTCCAACCCTGACCTAAAGTTGTGGGAGATTGGCAAGATTATTGGTGGCATGTGGCGA
GATCTCACTGATGAAGAAAAACAAGAATATTTAAACGAATACGAAGCAGAAAAGATAGAGTACAATGAATCTATGAAGGCCTATCATAATTCCCCCGCGTACCTT
GCTTACATAAATGCAAAAAGTCGTGCAGAAGCTGCTTTAGAGGAAGAAAGTCGACAGAGACAATCTCGCATGGAGAAAGGAGAACCGTACATGAGCATTCAGCCT
GCTGAAGATCCAGATGATTATGATGATGGCTTTTCAATGAAGCATACAGCCACCGCCCGTTTCCAGAGAAACCACCGCCTCATCAGTGAAATTCTTAGTGAGAGT
GTGGTGCCAGACGTTCGGTCAGTTGTCACAACAGCTAGAATGCAGGTCCTCAAACGGCAGGTCCAGTCCTTAATGGTTCATCAGCGAAAACTAGAAGCTGAACTT
CTTCAAATAGAGGAACGACACCAGGAGAAGAAGAGGAAATTCCTGGAAAGCACAGATTCATTTAACAATGAACTTAAAAGGTTGTGCGGTCTGAAAGTAGAAGTG
GATATGGAGAAAATTGCAGCTGAGATTGCACAGGCAGAGGAACAGGCCCGCAAAAGGCAGGAGGAAAGGGAGAAGGAGGCCGCAGAGCAAGCTGAGCGCAGTCAG
AGCAGCATCGTTCCTGAGGAAGAACAAGCAGCTAACAAAGGCGAGGAGAAGAAAGACGACGAGAACATTCCGATGGAGACAGAGGAGACACACCTTGAAGAAACA
ACAGAGAGCCAACAGAATGGTGAAGAAGGCACGTCTACTCCTGAGGACAAGGAGAGTGGGCAGGAGGGGGTCGACAGTATGGCAGAGGAAGGAACCAGTGATAGT
Show »

>SMARCE1|6605|protein
MSKRPSYAPPPTPAPATQMPSTPGFVGYNPYSHLAYNNYRLGGNPGTNSRVTASSGITIPKPPKPPDKPLMPYMRYSRKVWDQVKASNPDLKLWEIGKIIGGMWR
DLTDEEKQEYLNEYEAEKIEYNESMKAYHNSPAYLAYINAKSRAEAALEEESRQRQSRMEKGEPYMSIQPAEDPDDYDDGFSMKHTATARFQRNHRLISEILSES
VVPDVRSVVTTARMQVLKRQVQSLMVHQRKLEAELLQIEERHQEKKRKFLESTDSFNNELKRLCGLKVEVDMEKIAAEIAQAEEQARKRQEEREKEAAEQAERSQ
SSIVPEEEQAANKGEEKKDDENIPMETEETHLEETTESQQNGEEGTSTPEDKESGQEGVDSMAEEGTSDSNTGSESNSATVEEPPTDPIPEDEKKE

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) No 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (2)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top