AutismKB 2.0

Evidence Details for C16orf71


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Basic Information Top
Gene Symbol:C16orf71 ( DKFZp686H2240,FLJ43261 )
Gene Full Name: chromosome 16 open reading frame 71
Band: 16p13.3
Quick LinksEntrez ID:146562; OMIM: NA; Uniprot ID:CP071_HUMAN; ENSEMBL ID: ENSG00000166246; HGNC ID: 25081
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>C16orf71|146562|nucleotide
ATGGCATCCAACGATAAAGGCATGGCACCCTCGCTGGGCTCTCCCTGGGCCTCCCAGATGGGGCCCTGGGATGCCATCCTCAAGGCTGTCAAAGACCAGCTCCCG
TCTCTGGACTCAGACTCCCCTTTGTCGGACTATGGGGAAGAGGAGCTGTTCATCTTCCAGCGAAACCAAACCTCCCTGATTCCAGACCTGTCGGAGGAGCTGGCT
GAAGATCCTGCCGATGGCGACAAGTCCAGGGCCTGGGTCGCTGCAGCTGAAGAGTCCCTTCCCGAGCCAGTTCTGGTGCCTGCAGAATTGGCCACAGAACCTGGG
TGCAGACAGAACACAAGGACAAAGGATGCATCCTCTCAGGAAGGAAGAGACCCTGGCAGGCCTTTTGAAAGCTCTGGTGAGGTCAGCGCTCTTCTTGGGATGGCC
GAGGAGCCCCCCAGGTGGCTGGAAGGCGACCTTGGAAGCCTGTCTTTCAACACCAAAGGATCCCAGGGTCCTCCCTGGGACCCACAGGCCGAAGCCACTCTCTCC
TGCCATGAAGGAGACCCAAAGGCAGAGCCCCTCAGCACTGCCTCACAAGAATCTGTGAACCGCCGGGCCCTCCGACAGGAGAGAAGGAAGATGATAGAGACGGAC
ATCCTCCAGAAAGTCACCCGGGATGCCTGCGGCCCGACCAGCAGTGACAAAGGTGGGGTGAAGGAGGCGCCCTGCCACGCTGCGGAGTCAGCTCCCAGATCCAAA
ATGCCCCTCGTGGAGCCTCCGGAGGGACCACCAGTGCTCTCGCTCCAGCAACTTGAAGCGTGGGATTTGGATGACATCCTTCAGAGTCTGGCGGGACAAGAAGAC
AACCAGGGAAATCGTGCACCTGGAACTGTGTGGTGGGCAGCTGACCACCGCCAAGTTCAAGACCGCATGGTGCCGAGCGCCCACAACAGGCTCATGGAACAGCTG
GCCCTCCTGTGCACCACGCAGTCCAAGGCCTCTGCTTGTGCCCGGAAGGTGCCTGCCGACACTCCCCAGGACACCAAAGAGGCAGATTCAGGAAGCAGATGTGCC
TCAAGGAAGCAGGGCTCCCAGGCTGGGCCAGGCCCGCAGCTGGCCCAGGGCATGAGGCTTAACGCAGAGTCCCCCACCATCTTTATTGACCTGCGGCAGATGGAG
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>C16orf71|146562|protein
MASNDKGMAPSLGSPWASQMGPWDAILKAVKDQLPSLDSDSPLSDYGEEELFIFQRNQTSLIPDLSEELAEDPADGDKSRAWVAAAEESLPEPVLVPAELATEPG
CRQNTRTKDASSQEGRDPGRPFESSGEVSALLGMAEEPPRWLEGDLGSLSFNTKGSQGPPWDPQAEATLSCHEGDPKAEPLSTASQESVNRRALRQERRKMIETD
ILQKVTRDACGPTSSDKGGVKEAPCHAAESAPRSKMPLVEPPEGPPVLSLQQLEAWDLDDILQSLAGQEDNQGNRAPGTVWWAADHRQVQDRMVPSAHNRLMEQL
ALLCTTQSKASACARKVPADTPQDTKEADSGSRCASRKQGSQAGPGPQLAQGMRLNAESPTIFIDLRQMELPDHLSPESSSHSSSDSEEEEEEEMAALGDAEGAS
PSSLGLRTCTGKSQLLQQLRAFQKGTAQPELPASKGPAGGRAQAPEDTAGSRTGRKQHMKLCAKGQSAQARLPRGRPRALGDVPEPGAAREALMPPLEQL
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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 (2) 0 (0) 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
Bremer, 2011 - aCGHASD - - - - 223 - 223
Linkage Studies Top