AutismKB 2.0

Evidence Details for OFD1


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Basic Information Top
Gene Symbol:OFD1 ( 71-7A,CXorf5,JBTS10,MGC117039,MGC117040,SGBS2 )
Gene Full Name: oral-facial-digital syndrome 1
Band: Xp22.2
Quick LinksEntrez ID:8481; OMIM: 300170; Uniprot ID:OFD1_HUMAN; ENSEMBL ID: ENSG00000046651; HGNC ID: 2567
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>OFD1|8481|nucleotide
ATGATGGCGCAGTCCAACATGTTTACCGTGGCTGATGTGTTGAGTCAAGATGAACTGCGCAAAAAGCTATACCAGACGTTTAAGGATCGGGGTATACTGGATACA
CTCAAGACACAACTTCGAAACCAGCTAATTCATGAGTTGATGCACCCTGTATTGAGTGGAGAACTGCAGCCTCGGTCCATTTCAGTAGAAGGGAGCTCCCTCTTA
ATAGGCGCCTCTAACTCTTTAGTGGCAGATCACTTACAAAGATGTGGCTATGAATATTCACTTTCTGTTTTCTTTCCAGAAAGTGGTTTGGCAAAAGAAAAGGTA
TTTACTATGCAGGATCTATTACAACTCATTAAAATCAACCCTACTTCCAGTCTCTACAAATCACTGGTTTCAGGATCTGATAAAGAAAATCAAAAAGGTTTTCTT
ATGCATTTTTTAAAAGAATTGGCAGAATATCATCAAGCTAAAGAGAGTTGTAATATGGAAACTCAGACAAGTTCGACATTTAACAGAGATTCTCTGGCTGAGAAG
CTTCAGCTTATTGATGATCAGTTTGCAGATGCTTACCCTCAGCGTATCAAGTTCGAATCTTTAGAAATAAAGCTAAATGAGTATAAGAGAGAAATAGAAGAGCAA
CTTCGGGCAGAAATGTGTCAAAAGTTGAAGTTTTTTAAAGATACCGAGATAGCAAAAATTAAAATGGAAGCAAAAAAAAAGTATGAAAAGGAGTTAACCATGTTC
CAGAATGATTTTGAAAAAGCTTGTCAAGCAAAATCTGAAGCTCTCGTTCTTCGGGAAAAGAGTACCCTTGAAAGAATTCACAAGCACCAAGAGATTGAAACAAAA
GAAATTTATGCTCAAAGGCAACTTTTACTAAAAGATATGGATTTGCTAAGAGGAAGAGAAGCAGAGCTGAAGCAAAGAGTTGAAGCTTTTGAATTGAACCAGAAG
CTCCAGGAAGAAAAACATAAAAGCATAACTGAGGCACTTAGGAGACAGGAGCAGAATATAAAGAGTTTTGAGGAGACCTATGACCGAAAGCTCAAGAATGAACTT
CTAAAGTATCAACTTGAACTGAAGGATGACTACATCATTAGAACTAATCGACTGATTGAAGATGAAAGGAAGAATAAAGAAAAAGCTGTTCATTTGCAAGAGGAG
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>OFD1|8481|protein
MMAQSNMFTVADVLSQDELRKKLYQTFKDRGILDTLKTQLRNQLIHELMHPVLSGELQPRSISVEGSSLLIGASNSLVADHLQRCGYEYSLSVFFPESGLAKEKV
FTMQDLLQLIKINPTSSLYKSLVSGSDKENQKGFLMHFLKELAEYHQAKESCNMETQTSSTFNRDSLAEKLQLIDDQFADAYPQRIKFESLEIKLNEYKREIEEQ
LRAEMCQKLKFFKDTEIAKIKMEAKKKYEKELTMFQNDFEKACQAKSEALVLREKSTLERIHKHQEIETKEIYAQRQLLLKDMDLLRGREAELKQRVEAFELNQK
LQEEKHKSITEALRRQEQNIKSFEETYDRKLKNELLKYQLELKDDYIIRTNRLIEDERKNKEKAVHLQEELIAINSKKEELNQSVNRVKELELELESVKAQSLAI
TKQNHMLNEKVKEMSDYSLLKEEKLELLAQNKLLKQQLEESRNENLRLLNRLAQPAPELAVFQKELRKAEKAIVVEHEEFESCRQALHKQLQDEIEHSAQLKAQI
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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) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 1 (1) 0 (0) 10 (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
Vazna, 2010 Czech aCGHASD - - - - 1 - 1
Edens, 2011 Honduras aCGHautism - - - - 1 - 1
Edens, 2011 Austria FISH, aCGHautism - - - - 1 - 1
Linkage Studies Top