AutismKB 2.0

Evidence Details for C17orf70


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Basic Information Top
Gene Symbol:C17orf70 ( FAAP100,FLJ22175,FLJ30151 )
Gene Full Name: chromosome 17 open reading frame 70
Band: 17q25.3
Quick LinksEntrez ID:80233; OMIM: 611301; Uniprot ID:FP100_HUMAN; ENSEMBL ID: ENSG00000185504; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>C17orf70|80233|nucleotide
ATGGCCGGCGCCGCGCCGCGGGTCCGCTACCTGGCGGGCTTCTGCTGCCCTCTCGGGGGCCTGGCGGCGGGCAAGCCCCGCGTGCTGTGCCATGAGGCAGAGGTC
TTCCTGTCCACCGGGAGCGAGCTCGTCTACGTGTACGACCAGGAGGGCGGGCTGCTGACCGCGGCGTTCCGGTTCCCCGACCAGGTGTGGCACCTGGAGCTGCTG
GCGCCGCGCAGGTTGCTGTACGCGCTGTGCGCCCGGAGGGGCCTCTACTGCCTGTCGCTGGACCACCCGGGCAGGAGCAGGTCTACGAGCCAGGATGACAGGGAC
AGCGAGGACGGTGACCAGCCTTCCCCCGTGATCCCTGTGGACCCCGATGCCTGCATCCTTCCCGATGCTGCGCTGTGCGCGTTCACCTTGCTGGACAGTGTGCTG
GTCACCCTGGTGCAGGGCCCTGCCCGATGGAAGATGCAGCTGTTTGAGCAGCCCTGTCCTGGGGAGGACCCCCGGCCAGGAGGCCAGATCGGTGAGGTGGAGCTG
TCCTCCTACACGCCCCCAGCCGGGGTCCCAGGAAAGCCTGCAGCCCCCCACTTCCTTCCAGTGCTGTGCTCTGTGTCACCATCAGGCTCCAGGGTCCCGCACGAC
CTCCTCGGGGGCTCCGGGGGCTTCACGCTGGAGGACGCCCTCTTCGGGCTCCTCTTTGGAGCTGATGCCACCCTCCTGCAGTCACCTGTGGTCCTCTGTGGTCTC
CCTGATGGCCAGCTCTGCTGTGTGATCCTGAAGGCCCTGGTCACCTCCAGGTCAGCCCCTGGTGACCCAAATGCCCTTGTCAAGATCCTCCATCACCTGGAGGAG
CCCGTCATCTTCATAGGGGCCTTGAAGACAGAGCCACAGGCTGCAGAAGCTGCAGAGAATTTTCTGCCTGACGAGGATGTGCACTGTGACTGCCTGGTGGCCTTT
GGTCACCACGGCCGGATGCTGGCCATCAAGGCCAGCTGGGATGAGTCCGGGAAGCTGGTGCCCGAGCTGCGGGAGTACTGCCTCCCAGGCCCTGTGCTCTGCGCT
GCCTGTGGCGGGGGTGGCCGCGTGTACCACAGCACCCCTTCTGACCTCTGTGTGGTGGATCTGTCTCGGGGAAGCACCCCGCTGGGCCCTGAGCAGCCCGAAGAA
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>C17orf70|80233|protein
MAGAAPRVRYLAGFCCPLGGLAAGKPRVLCHEAEVFLSTGSELVYVYDQEGGLLTAAFRFPDQVWHLELLAPRRLLYALCARRGLYCLSLDHPGRSRSTSQDDRD
SEDGDQPSPVIPVDPDACILPDAALCAFTLLDSVLVTLVQGPARWKMQLFEQPCPGEDPRPGGQIGEVELSSYTPPAGVPGKPAAPHFLPVLCSVSPSGSRVPHD
LLGGSGGFTLEDALFGLLFGADATLLQSPVVLCGLPDGQLCCVILKALVTSRSAPGDPNALVKILHHLEEPVIFIGALKTEPQAAEAAENFLPDEDVHCDCLVAF
GHHGRMLAIKASWDESGKLVPELREYCLPGPVLCAACGGGGRVYHSTPSDLCVVDLSRGSTPLGPEQPEEGPGGLPPMLCPASLNICSVVSLSASPRTHEGGTKL
LALSAKGRLMTCSLDLDSEMPGPARMTTESAGQKIKELLSGIGNISERVSFLKKAVDQRNKALTSLNEAMNVSCALLSSGTGPRPISCTTSTTWSRLQTQDVLMA
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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 (2) 1 (1) 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
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top