AutismKB 2.0

Evidence Details for C16orf89


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Basic Information Top
Gene Symbol:C16orf89 ( MGC45438 )
Gene Full Name: chromosome 16 open reading frame 89
Band: 16p13.3
Quick LinksEntrez ID:146556; OMIM: NA; Uniprot ID:CP089_HUMAN; ENSEMBL ID: ENSG00000153446; HGNC ID: 28687
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>C16orf89|146556|nucleotide
ATGGCCAGCCTGGGGCTGCTGCTCCTGCTCTTACTGACAGCACTGCCACCGCTGTGGTCCTCCTCACTGCCTGGGCTGGACACTGCTGAAAGTAAAGCCACCATT
GCAGACCTGATCCTGTCTGCGCTGGAGAGAGCCACCGTCTTCCTAGAACAGAGGCTGCCTGAAATCAACCTGGATGGCATGGTGGGGGTCCGAGTGCTGGAAGAG
CAGCTAAAAAGTGTCCGGGAGAAGTGGGCCCAGGAGCCCCTGCTGCAGCCGCTGAGCCTGCGCGTGGGGATGCTGGGGGAGAAGCTGGAGGCTGCCATCCAGAGA
TCCCTCCACTACCTCAAGCTGAGTGATCCCAAGTACCTAAGAGAGTTCCAGCTGACCCTCCAGCCCGGGTTTTGGAAGCTCCCACATGCCTGGATCCACACTGAT
GCCTCCTTGGTGTACCCCACGTTCGGGCCCCAGGACTCATTCTCAGAGGAGAGAAGTGACGTGTGCCTGGTGCAGCTGCTGGGAACCGGGACGGACAGCAGCGAG
CCCTGCGGCCTCTCAGACCTCTGCAGGAGCCTCATGACCAAGCCCGGCTGCTCAGGCTACTGCCTGTCCCACCAACTGCTCTTCTTCCTCTGGGCCAGAATGAGG
GGGTGCACACAGGGACCACTCCAACAGAGCCAGGACTATATCAACCTCTTCTGCGCCAACATGATGGACTTGAACCGCAGAGCTGAGGCCATCGGATACGCCTAC
CCTACCCGGGACATCTTCATGGAAAACATCATGTTCTGTGGAATGGGCGGCTTCTCCGACTTCTACAAGCTCCGGTGGCTGGAGGCCATTCTCAGCTGGCAGAAA
CAGCAGGAAGGATGCTTCGGGGAGCCTGATGCTGAAGATGAAGAATTATCTAAAGCTATTCAATATCAGCAGCATTTTTCGAGGAGAGTGAAGAGGCGAGAAAAA
CAATTTCCAGATGGCTGCTCCTCCCACAACACAGCCACAGCAGTGGCAGCCCTGGGTGGCTTCCTATACATCCTGGCAGAATACCCCCCAGCAAACAGAGAGCCA
CACCCATCCACACCGCCACCACCAAGCAGCCGCTGA
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>C16orf89|146556|protein
MASLGLLLLLLLTALPPLWSSSLPGLDTAESKATIADLILSALERATVFLEQRLPEINLDGMVGVRVLEEQLKSVREKWAQEPLLQPLSLRVGMLGEKLEAAIQR
SLHYLKLSDPKYLREFQLTLQPGFWKLPHAWIHTDASLVYPTFGPQDSFSEERSDVCLVQLLGTGTDSSEPCGLSDLCRSLMTKPGCSGYCLSHQLLFFLWARMR
GCTQGPLQQSQDYINLFCANMMDLNRRAEAIGYAYPTRDIFMENIMFCGMGGFSDFYKLRWLEAILSWQKQQEGCFGEPDAEDEELSKAIQYQQHFSRRVKRREK
QFPDGCSSHNTATAVAALGGFLYILAEYPPANREPHPSTPPPPSSR

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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) 1 (2) 1 (2) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 4 (5)
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
Bremer, 2011 - aCGHASD - - - - 223 - 223
Asadollahi R, 2014 - CMA--NDDs - - - - 714 2528 3242
Linkage Studies Top