AutismKB 2.0

Evidence Details for SMTN


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Basic Information Top
Gene Symbol:SMTN ( FLJ35365,FLJ38597 )
Gene Full Name: smoothelin
Band: 22q12.2
Quick LinksEntrez ID:6525; OMIM: 602127; Uniprot ID:SMTN_HUMAN; ENSEMBL ID: ENSG00000183963; HGNC ID: 11126
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SMTN|6525|nucleotide
ATGGCGGACGAGGCCTTAGCTGGGCTGGATGAGGGAGCCCTTCGGAAGCTGCTGGAGGTCACAGCAGATCTGGCAGAGCGGCGGCGCATCCGCTCAGCCATCCGG
GAACTGCAGCGGCAGGAGCTGGAGCGCGAGGAGGAGGCCCTGGCATCCAAGCGTTTCCGTGCCGAGCGGCAGGACAACAAGGAGAACTGGCTGCACTCTCAGCAG
CGGGAAGCTGAGCAGCGGGCTGCCCTGGCACGGCTGGCAGGGCAGCTGGAGTCCATGAACGATGTGGAGGAATTGACTGCACTGTTGCGAAGCGCTGGTGAGTAT
GAGGAGCGCAAGCTGATCCGAGCTGCCATCCGCCGTGTACGGGCTCAGGAGATTGAGGCTGCCACCTTGGCTGGGAGGTTGTACAGCGGGCGTCCCAACAGTGGC
TCAAGAGAGGACAGCAAGGGGCTAGCGGCACACAGGCTGGAACAGTGTGAGGTGCCAGAGCGAGAGGAACAGGAACAGCAGGCAGAGGTTTCAAAGCCAACCCCC
ACCCCTGAAGGCACCAGCCAGGATGTGACCACAGTGACACTCCTGCTGCGAGCCCCACCTGGGAGCACATCCAGCTCACCTGCCTCACCCAGCAGTTCACCCACC
CCTGCCTCTCCTGAGCCTCCATTGGAGCCTGCCGAGGCCCAGTGCCTTACAGCTGAGGTTCCAGGCAGCCCAGAGCCACCCCCCAGCCCACCCAAGACCACCAGC
CCTGAGCCTCAGGAGTCTCCAACGCTCCCCAGCACTGAGGGCCAGGTGGTCAACAAGCTTCTGTCTGGCCCCAAAGAGACCCCTGCTGCCCAGAGCCCCACCAGA
GGCCCCTCTGACACCAAGAGAGCAGACGTGGCTGGACCCCGACCCTGCCAACGCTCCCTGTCGGTGCTCAGCCCCCGCCAACCAGCCCAGAACCGAGAGTCCACC
CCCCTTGCCAGCGGACCTTCCTCATTCCAGCGGGCTGGCTCTGTGCGGGATCGTGTCCACAAGTTCACATCTGATTCTCCTATGGCTGCTAGGCTCCAGGATGGC
ACACCCCAGGCTGCCCTAAGTCCCCTGACCCCCGCAAGGCTCCTGGGCCCCTCCCTCACCAGCACCACCCCTGCCTCCTCCTCCAGCGGCTCCTCCTCTCGGGGC
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>SMTN|6525|protein
MADEALAGLDEGALRKLLEVTADLAERRRIRSAIRELQRQELEREEEALASKRFRAERQDNKENWLHSQQREAEQRAALARLAGQLESMNDVEELTALLRSAGEY
EERKLIRAAIRRVRAQEIEAATLAGRLYSGRPNSGSREDSKGLAAHRLEQCEVPEREEQEQQAEVSKPTPTPEGTSQDVTTVTLLLRAPPGSTSSSPASPSSSPT
PASPEPPLEPAEAQCLTAEVPGSPEPPPSPPKTTSPEPQESPTLPSTEGQVVNKLLSGPKETPAAQSPTRGPSDTKRADVAGPRPCQRSLSVLSPRQPAQNREST
PLASGPSSFQRAGSVRDRVHKFTSDSPMAARLQDGTPQAALSPLTPARLLGPSLTSTTPASSSSGSSSRGPSDTSSRFSKEQRGVAQPLAQLRSCPQEEGPRGRG
LAARPLENRAGGPVARSEEPGAPLPVAVGTAEPGGSMKTTFTIEIKDGRGQASTGRVLLPTGNQRAELTLGLRAPPTLLSTSSGGKSTITRVNSPGTLARLGSVT
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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 (1) 0 (0) 0 (1)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top