AutismKB 2.0

Evidence Details for C15orf43


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Basic Information Top
Gene Symbol:C15orf43 ( MGC33951 )
Gene Full Name: chromosome 15 open reading frame 43
Band: 15q21.1
Quick LinksEntrez ID:145645; OMIM: NA; Uniprot ID:CO043_HUMAN; ENSEMBL ID: ENSG00000167014; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>C15orf43|145645|nucleotide
ATGTTTCAAGGGCAGCGCGGTTGGTTTTGCGGCAGCGTTAGCCAGGATCTGAGGCAATTCTGGGTGGCTGAAGGGGGAACGATCAGTGACCCGCGAGCCGCCGAC
TTCTTGTTCAGCTGTGATGCCTCGCACCCAGACACGCTGAGAATATATCAGAGCCTTGATTACATAGAAGATAATGCTACAGTTTTTCATGCCTACTATCTCTCT
GCGGTAGCTAATGCCAAAATAAAAAACTCGGTGGCTTTGGGTCATTTCATTCTTCCTCCTGCGTGCCTGCAAAAAGAAATAAGAAGAAAAATTGGTAGTTTTATT
TGGGAACAAGACCAACATTTTCTGATAGAAAAGCATGATGAAGTAACACCAAATGAAATAAAGACCCTTAGGGAAAACAGTGAACTAGCAACAGAGCACAAAAAA
GAATTATCCAAAAGCCCAGAAAAGCATTTTATAAGAACTCCAGTTGTAGAAAAGCAGATGTACTTCCCTCTACAGAATTACCCAGTTAACAACATGGTAACAGGT
TATATATCAATTGATGCCATGAAGAAATTCCTTGGGGAGCTACATGACTTCATTCCTGGAACCTCAGGATATTTGGCATATCATGTTCAAAATGAAATTAATATG
TCTGCTATAAAAAACAAATTGAAGAGGAAATAG




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>C15orf43|145645|protein
MFQGQRGWFCGSVSQDLRQFWVAEGGTISDPRAADFLFSCDASHPDTLRIYQSLDYIEDNATVFHAYYLSAVANAKIKNSVALGHFILPPACLQKEIRRKIGSFI
WEQDQHFLIEKHDEVTPNEIKTLRENSELATEHKKELSKSPEKHFIRTPVVEKQMYFPLQNYPVNNMVTGYISIDAMKKFLGELHDFIPGTSGYLAYHVQNEINM
SAIKNKLKRK


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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 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 4 (3)
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
Zwaag, 2009 - SNP microarrayautism - - - - 105 267 372
Brand H, 2015 - CMA;WGS--ASD - - - - 259 - 259
Linkage Studies Top