AutismKB 2.0

Evidence Details for OFCC1


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Basic Information Top
Gene Symbol:OFCC1 ( MGC142101,MGC142103,MRDS1 )
Gene Full Name: orofacial cleft 1 candidate 1
Band: 6p24.3
Quick LinksEntrez ID:266553; OMIM: NA; Uniprot ID:; ENSEMBL ID: ENSG00000181355; HGNC ID: 21017
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>OFCC1|266553|nucleotide
ATGTGGATCACCAGTCTCATCACCATGAAGGATGAAGATATATTTGATTTGGCAGGGGATCCCCAAGACAGCCTCATTCCTGGGCCTTCTCCCACCCCCAAGCAA
AACCCAGTTTGTAATGAGGCTTTCTTTGGACACCAGACTTTCTCCTTAAGAGAGACTGGATTGAAATCTGTGCATTGCCAAGGGCAAGAAGCTGAGAACATGGAG
AGAGAGAAGTTTCAGCAGAAGGCTCTGAAGCAAACTAAGCAGAAGAAATCCAAGTCGGCTGAATTTCTGATGGTTAAAGAAGATAGAGAAGCTACAGAAGGCACT
GGAAATCCAGCTTTTAACATGAGCAGTCCAGATCTCTCAGCATGTCAGACTGCAGAAAAGAAAGTTATTAGACACGACATGCCGGATCGCACCCTTGCAGCTCAC
CAACAAAAATTCAGGCTGCCAGCCTCTGCAGAACCAAAAGGAAATGAATACGGCAGAAATTACTTTGACCCACTGATGGATGAGGAAATAAACCCAAGGCAGTGT
GCGACGGAGGTCAGCAGAGAAGATGAGAGTGGCCGGGAGGAGACTCTGAATTCTGAAGCACCTGGGAGTTCCAATAAGAGTCACGAAATCCACAAAGAAGCCAGC
GAAGCCACCACTGCTCACCTTGAGGAGTTCCAAAGATCTCAGAAAACTATAATTCTGCTTGGAAGTTCTCCATTAGAACAGGATTTGAAATTCGAAGGGGAAGGC
CTCAACGAATACATTCCTATGTCACTTTTAAAGACTGGTAAAACATTTGAGAAAACTCCAAGTCAACCATTCATTGCAGACCTAAATATTTGTAAAAAGGACAGT
GCAGCCCAGCTTGGTACCCTCACAGAAGTAACTAATGACTCAAAGGGAGCAGCAGGACCCCGCTGGAAGTTCCTGCGTAATTCAAGAACCCCACCTTTTGTGGAA
AATGAGCAGTCTCAACCACCTCAGCCTCTGCAAATCCAGATCAGATGCCTGAGGGGCCTTAAAGACAAGGCTCCTCCAGGCTCTTATGTCCTCAAAGTGTCCGTG
TCCCTGCTTGGTCGACTGGGAGGCTGTGTCTTGCAGTGGTGGCAAACGGAGCAACTAAAGACCAGAAAACACTCCGTCAGGCACAATGGAAACTTTTATGATGTG
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>OFCC1|266553|protein
MWITSLITMKDEDIFDLAGDPQDSLIPGPSPTPKQNPVCNEAFFGHQTFSLRETGLKSVHCQGQEAENMEREKFQQKALKQTKQKKSKSAEFLMVKEDREATEGT
GNPAFNMSSPDLSACQTAEKKVIRHDMPDRTLAAHQQKFRLPASAEPKGNEYGRNYFDPLMDEEINPRQCATEVSREDESGREETLNSEAPGSSNKSHEIHKEAS
EATTAHLEEFQRSQKTIILLGSSPLEQDLKFEGEGLNEYIPMSLLKTGKTFEKTPSQPFIADLNICKKDSAAQLGTLTEVTNDSKGAAGPRWKFLRNSRTPPFVE
NEQSQPPQPLQIQIRCLRGLKDKAPPGSYVLKVSVSLLGRLGGCVLQWWQTEQLKTRKHSVRHNGNFYDVGVYFHENLYVVLPQRKNVSPGMXFLFELFLLRGTY
TCLDRAVGXAVFPLCNNNFDTVEGKFKCPLLXGHYDQKLSNFRKIEDLICLDLDHWLCNLYFQVIKLPLHFDGQKNHESYTRLSPEFPVCLMAKGEKAESGVDNT
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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 (3) 0 (0) 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
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Zwaag, 2009 - SNP microarrayautism - - - - 105 267 372
Nord, 2011 US aCGH--ASD - - - - 41 367 408
Linkage Studies Top