AutismKB 2.0

Evidence Details for SMARCA5


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Basic Information Top
Gene Symbol:SMARCA5 ( ISWI,SNF2H,WCRF135,hISWI,hSNF2H )
Gene Full Name: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5
Band: 4q31.21
Quick LinksEntrez ID:8467; OMIM: 603375; Uniprot ID:SMCA5_HUMAN; ENSEMBL ID: ENSG00000153147; HGNC ID: 11101
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SMARCA5|8467|nucleotide
ATGTCGTCCGCGGCCGAGCCTCCGCCACCCCCGCCTCCCGAGAGCGCGCCTTCCAAGCCCGCAGCCTCGATCGCCAGCGGCGGGAGCAACAGCAGCAACAAAGGC
GGCCCCGAAGGCGTCGCGGCGCAGGCGGTTGCGTCTGCGGTCAGCGCTGGTCCCGCAGACGCCGAGATGGAGGAAATATTTGATGATGCGTCACCTGGAAAGCAA
AAGGAAATCCAAGAACCAGATCCTACCTATGAAGAAAAAATGCAAACTGACCGGGCAAATAGATTCGAGTATTTATTAAAGCAGACAGAACTTTTTGCACATTTC
ATTCAACCTGCTGCTCAGAAGACTCCAACTTCACCTTTGAAGATGAAACCAGGGCGCCCACGAATAAAAAAAGATGAGAAGCAGAACTTACTATCCGTTGGCGAT
TACCGACACCGTAGAACAGAGCAAGAGGAGGATGAAGAGCTATTAACAGAAAGCTCCAAAGCAACCAATGTTTGCACTCGATTTGAAGACTCTCCATCGTATGTA
AAATGGGGTAAACTGAGAGATTATCAGGTCCGAGGATTAAACTGGCTCATTTCTTTGTATGAGAATGGCATCAATGGTATCCTTGCAGATGAAATGGGCCTAGGA
AAGACTCTTCAAACAATTTCTCTTCTTGGGTACATGAAACATTATAGAAACATTCCTGGGCCTCATATGGTTTTGGTTCCTAAGTCTACATTACACAACTGGATG
AGTGAATTCAAGAGATGGGTACCAACACTTAGATCTGTTTGTTTGATAGGAGATAAAGAACAAAGAGCTGCTTTTGTCAGAGACGTTTTATTACCGGGAGAATGG
GATGTATGTGTAACATCTTATGAAATGCTTATTAAAGAGAAGTCTGTGTTCAAAAAATTTAATTGGAGATACTTAGTAATAGATGAAGCTCACAGGATCAAAAAT
GAAAAATCTAAGTTGTCAGAAATAGTGAGGGAATTCAAGACTACAAATAGACTATTATTAACTGGAACACCTCTTCAGAACAACTTGCATGAGCTGTGGTCACTT
CTTAACTTTCTGTTGCCAGATGTGTTTAATTCAGCAGATGACTTTGATTCCTGGTTTGATACAAACAACTGCCTTGGGGATCAAAAACTAGTTGAGAGGCTTCAT
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>SMARCA5|8467|protein
MSSAAEPPPPPPPESAPSKPAASIASGGSNSSNKGGPEGVAAQAVASAVSAGPADAEMEEIFDDASPGKQKEIQEPDPTYEEKMQTDRANRFEYLLKQTELFAHF
IQPAAQKTPTSPLKMKPGRPRIKKDEKQNLLSVGDYRHRRTEQEEDEELLTESSKATNVCTRFEDSPSYVKWGKLRDYQVRGLNWLISLYENGINGILADEMGLG
KTLQTISLLGYMKHYRNIPGPHMVLVPKSTLHNWMSEFKRWVPTLRSVCLIGDKEQRAAFVRDVLLPGEWDVCVTSYEMLIKEKSVFKKFNWRYLVIDEAHRIKN
EKSKLSEIVREFKTTNRLLLTGTPLQNNLHELWSLLNFLLPDVFNSADDFDSWFDTNNCLGDQKLVERLHMVLRPFLLRRIKADVEKSLPPKKEVKIYVGLSKMQ
REWYTRILMKDIDILNSAGKMDKMRLLNILMQLRKCCNHPYLFDGAEPGPPYTTDMHLVTNSGKMVVLDKLLPKLKEQGSRVLIFSQMTRVLDILEDYCMWRNYE
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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 (0) 0 (0) 0 (0) 0 (0) (0)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top