AutismKB 2.0

Evidence Details for SMARCAL1


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Basic Information Top
Gene Symbol:SMARCAL1 ( HARP,HHARP )
Gene Full Name: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
Band: 2q35
Quick LinksEntrez ID:50485; OMIM: 606622; Uniprot ID:SMAL1_HUMAN; ENSEMBL ID: ENSG00000138375; HGNC ID: 11102
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SMARCAL1|50485|nucleotide
ATGTCCTTGCCTCTTACAGAGGAGCAGAGGAAAAAGATTGAAGAGAATCGACAAAAGGCTCTGGCCCGCAGAGCTGAGAAGTTATTGGCAGAACAGCATCAGAGG
ACTAGCTCGGGCACCTCCATTGCTGGCAACCCATTCCAGGCCAAGCAAGGCCCATCCCAAAATTTCCCAAGGGAGTCTTGTAAGCCAGTGAGCCATGGTGTCATT
TTCAAGCAACAGAATCTCAGTAGCTCATCTAATGCTGACCAAAGACCTCATGATTCCCACAGTTTTCAGGCAAAGGGAATATGGAAAAAGCCAGAAGAAATGCCC
ACAGCCTGCCCAGGCCACAGTCCACGTAGTCAAATGGCTCTCACTGGAATCTCTCCTCCCTTGGCACAAAGTCCTCCAGAGGTCCCTAAACAACAGCTCTTGAGT
TATGAGTTAGGTCAAGGTCATGCTCAGGCTTCACCTGAGATCAGGTTCACACCCTTTGCTAACCCAACTCATAAGCCTCTGGCCAAACCAAAGAGTTCCCAAGAG
ACACCAGCTCATTCCTCTGGACAGCCTCCCAGGGATGCTAAGTTAGAGGCCAAGACAGCAAAAGCCTCCCCTTCGGGGCAGAACATTTCTTACATCCATTCTAGC
TCAGAGAGTGTAACGCCCAGGACAGAAGGAAGACTCCAGCAGAAGTCAGGGTCCTCAGTCCAAAAAGGAGTGAACTCTCAGAAGGGAAAGTGCGTAAGGAACGGC
GATCGTTTCCAGGTGTTGATTGGGTACAATGCGGAACTCATTGCAGTGTTTAAGACCCTGCCCAGCAAGAATTATGATCCTGACACCAAGACGTGGAACTTCAGC
ATGAATGACTATAGTGCCCTGATGAAAGCAGCCCAGAGCCTCCCCACGGTCAACCTGCAGCCTCTGGAATGGGCCTATGGCAGCAGCGAGTCACCCTCCACCAGC
AGTGAGGGACAGGCCGGCCTTCCATCAGCTCCATCCCTTTCATTTGTCAAAGGGCGATGCATGCTCATCTCCAGGGCCTACTTCGAGGCAGACATCAGTTATTCA
CAGGACCTTATTGCGCTTTTTAAACAGATGGATTCCAGAAGATATGATGTCAAGACCAGGAAGTGGAGCTTTCTCTTGGAAGAGCACAGTAAACTAATTGCAAAG
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>SMARCAL1|50485|protein
MSLPLTEEQRKKIEENRQKALARRAEKLLAEQHQRTSSGTSIAGNPFQAKQGPSQNFPRESCKPVSHGVIFKQQNLSSSSNADQRPHDSHSFQAKGIWKKPEEMP
TACPGHSPRSQMALTGISPPLAQSPPEVPKQQLLSYELGQGHAQASPEIRFTPFANPTHKPLAKPKSSQETPAHSSGQPPRDAKLEAKTAKASPSGQNISYIHSS
SESVTPRTEGRLQQKSGSSVQKGVNSQKGKCVRNGDRFQVLIGYNAELIAVFKTLPSKNYDPDTKTWNFSMNDYSALMKAAQSLPTVNLQPLEWAYGSSESPSTS
SEGQAGLPSAPSLSFVKGRCMLISRAYFEADISYSQDLIALFKQMDSRRYDVKTRKWSFLLEEHSKLIAKVRCLPQVQLDPLPTTLTLAFASQLKKTSLSLTPDV
PEADLSEVDPKLVSNLMPFQRAGVNFAIAKGGRLLLADDMGLGKTIQAICIAAFYRKEWPLLVVVPSSVRFTWEQAFLRWLPSLSPDCINVVVTGKDRLTAGLIN
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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 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (1)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top