AutismKB 2.0

Evidence Details for SIM1


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Basic Information Top
Gene Symbol:SIM1 ( bHLHe14 )
Gene Full Name: single-minded homolog 1 (Drosophila)
Band: 6q16.3
Quick LinksEntrez ID:6492; OMIM: 603128; Uniprot ID:SIM1_HUMAN; ENSEMBL ID: ENSG00000112246; HGNC ID: 10882
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SIM1|6492|nucleotide
ATGAAAGAAAAGTCCAAAAATGCTGCGCGGACTAGGAGGGAGAAGGAAAACAGTGAATTTTATGAACTGGCTAAATTACTGCCTTTGCCCTCGGCTATCACCTCG
CAGCTGGACAAAGCATCCATAATCAGACTCACGACCAGCTATCTCAAAATGAGAGTGGTGTTCCCAGAAGGGCTCGGCGAGGCGTGGGGCCACTCAAGTCGGACC
AGCCCCCTGGACAACGTTGGCCGAGAACTGGGCTCCCATCTGCTCCAGACCCTGGATGGCTTCATCTTCGTGGTAGCCCCAGATGGGAAGATCATGTACATCTCA
GAGACAGCCTCAGTCCACTTGGGTCTTTCTCAGGTAGAGCTGACCGGAAACAGCATTTATGAATACATTCACCCGGCAGACCACGACGAGATGACGGCGGTGCTC
ACCGCCCATCAACCCTACCACTCTCACTTCGTGCAGGAGTATGAGATCGAGCGCTCCTTCTTCCTGAGGATGAAGTGCGTCTTGGCCAAGCGTAACGCCGGCCTC
ACCTGTGGCGGCTACAAGGTCATCCACTGCAGCGGCTACTTGAAGATCCGCCAGTACAGCCTGGACATGTCCCCCTTCGACGGCTGCTACCAAAACGTGGGCCTG
GTGGCCGTGGGCCACTCGCTGCCTCCCAGCGCCGTCACGGAGATCAAGCTACACAGCAATATGTTTATGTTCCGCGCCAGCCTGGACATGAAGCTCATCTTTCTG
GACTCCAGGGTGGCGGAGCTGACGGGGTACGAACCTCAGGACCTGATTGAGAAGACTCTGTACCACCATGTGCACGGCTGCGACACCTTCCACCTGCGCTGCGCG
CACCATTTGCTGCTGGTGAAGGGACAGGTGACCACCAAGTACTACAGGTTCCTGGCGAAACACGGCGGCTGGGTATGGGTGCAGAGCTACGCGACCATCGTGCAC
AACAGTCGCTCCTCCAGGCCACACTGTATCGTCAGCGTCAACTATGTCCTCACAGACACAGAATACAAAGGGCTGCAGCTCTCCCTGGATCAGATCTCAGCCTCC
AAACCAGCCTTCTCCTATACCAGCAGCTCCACCCCCACCATGACTGACAACAGAAAGGGGGCCAAATCCCGGCTCTCCAGCTCAAAGTCAAAATCCAGGACTTCC
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>SIM1|6492|protein
MKEKSKNAARTRREKENSEFYELAKLLPLPSAITSQLDKASIIRLTTSYLKMRVVFPEGLGEAWGHSSRTSPLDNVGRELGSHLLQTLDGFIFVVAPDGKIMYIS
ETASVHLGLSQVELTGNSIYEYIHPADHDEMTAVLTAHQPYHSHFVQEYEIERSFFLRMKCVLAKRNAGLTCGGYKVIHCSGYLKIRQYSLDMSPFDGCYQNVGL
VAVGHSLPPSAVTEIKLHSNMFMFRASLDMKLIFLDSRVAELTGYEPQDLIEKTLYHHVHGCDTFHLRCAHHLLLVKGQVTTKYYRFLAKHGGWVWVQSYATIVH
NSRSSRPHCIVSVNYVLTDTEYKGLQLSLDQISASKPAFSYTSSSTPTMTDNRKGAKSRLSSSKSKSRTSPYPQYSGFHTERSESDHDSQWGGSPLTDTASPQLL
DPADRPGSQHDASCAYRQFSDRSSLCYGFALDHSRLVEERHFHTQACEGGRCEAGRYFLGTPQAGREPWWGSRAALPLTKASPESREAYENSMPHIASVHRIHGR
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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 (1) 1 (1) 0 (1) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 2 (4)
Syndromic Autism Gene Top
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
Nord, 2011 US aCGH--ASD - - - - 41 367 408
Linkage Studies Top