AutismKB 2.0

Evidence Details for ISM1


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Basic Information Top
Gene Symbol:ISM1 ( C20orf82,ISM,Isthmin,bA149I18.1,dJ1077I2.1 )
Gene Full Name: isthmin 1 homolog (zebrafish)
Band: 20p12.1
Quick LinksEntrez ID:140862; OMIM: NA; Uniprot ID:ISM1_HUMAN; ENSEMBL ID: ENSG00000101230; HGNC ID: 16213
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ISM1|140862|nucleotide
ATGGTGCGCCTGGCGGCCGAGCTGCTGCTGCTGCTGGGGCTGCTGCTGCTCACGCTGCACATCACCGTGCTGCGCGGCTCGGGAGCCGCCGACGGGCCCGACGCG
GCCGCGGGCAACGCCAGCCAAGCCCAGCTGCAGAATAACCTCAACGTGGGAAGTGACACCACATCAGAAACCAGCTTTTCTCTCTCCAAAGAAGCACCAAGGGAG
CATCTGGACCACCAGGCTGCACACCAACCCTTCCCCAGACCGCGATTCCGACAAGAGACGGGGCACCCTTCATTGCAAAGAGATTTCCCCAGATCCTTTCTCCTT
GATCTACCAAACTTTCCAGATCTTTCCAAAGCTGATATCAATGGGCAGAATCCAAATATCCAGGTCACCATAGAGGTGGTCGACGGTCCTGACTCTGAAGCAGAT
AAAGATCAGCATCCGGAGAATAAGCCCAGCTGGTCAGTCCCATCCCCCGACTGGCGGGCCTGGTGGCAGAGGTCCCTGTCCTTGGCCAGGGCAAACAGCGGGGAC
CAGGACTACAAGTACGACAGTACCTCAGACGACAGCAACTTCCTCAACCCCCCCAGGGGGTGGGACCATACAGCCCCAGGCCACCGGACTTTTGAAACCAAAGAT
CAGCCAGAATATGATTCCACAGATGGCGAGGGTGACTGGAGTCTCTGGTCTGTCTGCAGCGTCACCTGCGGGAACGGCAACCAGAAACGGACCCGGTCTTGTGGC
TACGCGTGCACTGCAACAGAATCGAGGACCTGTGACCGTCCAAACTGCCCAGGAATTGAAGACACTTTTAGGACAGCTGCCACCGAAGTGAGTCTGCTTGCGGGA
AGCGAGGAGTTTAATGCCACCAAACTGTTTGAAGTTGACACAGACAGCTGTGAGCGCTGGATGAGCTGCAAAAGCGAGTTCTTAAAGAAGTACATGCACAAGGTG
ATGAATGACCTGCCCAGCTGCCCCTGCTCCTACCCCACTGAGGTGGCCTACAGCACGGCCGACATCTTCGACCGCATCAAGCGCAAGGACTTCCGCTGGAAGGAC
GCCAGCGGGCCCAAGGAGAAGCTGGAGATCTACAAGCCCACTGCCCGGTACTGCATCCGCTCCATGCTGTCCCTGGAGAGCACCACGCTGGCGGCACAGCACTGC
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>ISM1|140862|protein
MVRLAAELLLLLGLLLLTLHITVLRGSGAADGPDAAAGNASQAQLQNNLNVGSDTTSETSFSLSKEAPREHLDHQAAHQPFPRPRFRQETGHPSLQRDFPRSFLL
DLPNFPDLSKADINGQNPNIQVTIEVVDGPDSEADKDQHPENKPSWSVPSPDWRAWWQRSLSLARANSGDQDYKYDSTSDDSNFLNPPRGWDHTAPGHRTFETKD
QPEYDSTDGEGDWSLWSVCSVTCGNGNQKRTRSCGYACTATESRTCDRPNCPGIEDTFRTAATEVSLLAGSEEFNATKLFEVDTDSCERWMSCKSEFLKKYMHKV
MNDLPSCPCSYPTEVAYSTADIFDRIKRKDFRWKDASGPKEKLEIYKPTARYCIRSMLSLESTTLAAQHCCYGDNMQLITRGKGAGTPNLISTEFSAELHYKVDV
LPWIICKGDWSRYNEARPPNNGQKCTESPSDEDYIKQFQEAREY
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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) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (2)
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
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Linkage Studies Top