AutismKB 2.0

Evidence Details for C15orf55


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Basic Information Top
Gene Symbol:C15orf55 ( DKFZp434O192,MGC138683,MGC138684,NUT )
Gene Full Name: chromosome 15 open reading frame 55
Band: 15q14
Quick LinksEntrez ID:256646; OMIM: 608963; Uniprot ID:NUT_HUMAN; ENSEMBL ID: ENSG00000184507; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>C15orf55|256646|nucleotide
ATGGCTTCAGATGGAGCATCTGCATTGCCGGGACCGGATATGAGCATGAAACCTAGTGCCGCCCTGTCTCCATCCCCTGCACTTCCCTTTCTCCCACCAACTTCT
GACCCACCAGACCACCCACCCAGGGAGCCACCTCCACAGCCCATCATGCCTTCAGTATTCTCTCCAGACAACCCTCTGATGCTCTCTGCTTTCCCCAGCTCACTG
TTGGTGACAGGGGACGGGGGCCCTTGCCTCAGTGGGGCTGGGGCTGGCAAGGTCATTGTCAAAGTCAAGACAGAAGGGGGGTCAGCTGAGCCCTCTCAAACTCAG
AACTTTATCCTTACTCAGACTGCCCTCAATTCGACTGCCCCGGGCACTCCCTGTGGAGGCCTTGAGGGTCCTGCACCTCCATTTGTGACAGCATCTAATGTGAAG
ACCATTCTGCCCTCTAAGGCTGTTGGTGTCAGCCAGGAGGGTCCTCCAGGCCTTCCGCCTCAGCCTCCACCACCAGTTGCTCAACTGGTCCCCATTGTGCCCCTG
GAAAAAGCTTGGCCAGGGCCACATGGGACAACCGGGGAAGGAGGTCCTGTGGCCACTCTATCCAAGCCTTCCCTAGGTGACCGCTCCAAAATTTCCAAGGACGTT
TATGAGAACTTCCGTCAGTGGCAGCGTTACAAAGCCTTGGCCCGGAGGCACCTATCCCAGAGTCCTGACACAGAAGCTCTTTCCTGTTTTCTTATCCCAGTGCTT
CGTTCCCTGGCCCGGCTGAAGCCCACTATGACCCTGGAGGAGGGACTGCCATTGGCTGTGCAGGAGTGGGAGCACACCAGCAACTTTGACCGGATGATCTTTTAT
GAGATGGCAGAAAGGTTCATGGAGTTTGAGGCTGAGGAGATGCAGATTCAGAACACACAGCTGATGAATGGGTCTCAGGGCCTGTCTCCTGCAACCCCTTTGAAA
CTTGATCCTCTAGGGCCCCTGGCCTCTGAGGTTTGCCAGCAGCCAGTGTACATTCCGAAGAAGGCAGCCTCCAAGACACGGGCCCCCCGCCGGCGTCAGCGTAAA
GCCCAGAGACCTCCTGCTCCTGAGGCACCCAAGGAGATCCCACCAGAAGCTGTGAAGGAGTATGTTGACATCATGGAATGGCTGGTGGGGACTCACTTGGCCACT
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>C15orf55|256646|protein
MASDGASALPGPDMSMKPSAALSPSPALPFLPPTSDPPDHPPREPPPQPIMPSVFSPDNPLMLSAFPSSLLVTGDGGPCLSGAGAGKVIVKVKTEGGSAEPSQTQ
NFILTQTALNSTAPGTPCGGLEGPAPPFVTASNVKTILPSKAVGVSQEGPPGLPPQPPPPVAQLVPIVPLEKAWPGPHGTTGEGGPVATLSKPSLGDRSKISKDV
YENFRQWQRYKALARRHLSQSPDTEALSCFLIPVLRSLARLKPTMTLEEGLPLAVQEWEHTSNFDRMIFYEMAERFMEFEAEEMQIQNTQLMNGSQGLSPATPLK
LDPLGPLASEVCQQPVYIPKKAASKTRAPRRRQRKAQRPPAPEAPKEIPPEAVKEYVDIMEWLVGTHLATGESDGKQEEEGQQQEEEGMYPDPGLLSYINELCSQ
KVFVSKVEAVIHPQFLADLLSPEKQRDPLALIEELEQEEGLTLAQLVQKRLMALEEEEDAEAPPSFSGAQLDSSPSGSVEDEDGDGRLRPSPGLQGAGGAACLGK
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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 (3) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (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
Gregory, 2009 USA aCGHASD - - - - 119 54 173
Linkage Studies Top