AutismKB 2.0

Evidence Details for DENR


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Basic Information Top
Gene Symbol:DENR ( DRP,DRP1,SMAP-3 )
Gene Full Name: density-regulated protein
Band: 12q24.31
Quick LinksEntrez ID:8562; OMIM: 604550; Uniprot ID:DENR_HUMAN; ENSEMBL ID: ENSG00000139726; HGNC ID: 2769
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>DENR|8562|nucleotide
ATGGCTGCTGACATTTCTGAATCCAGCGGGGCTGACTGCAAAGGAGACCCAAGGAACAGTGCCAAGTTAGATGCCGATTACCCACTTCGAGTCCTTTATTGTGGA
GTCTGTTCATTACCAACAGAGTACTGTGAATATATGCCTGATGTTGCTAAATGTAGACAATGGTTAGAGAAGAATTTTCCAAATGAATTTGCAAAACTTACTGTA
GAAAATTCACCCAAACAAGAAGCTGGAATTAGTGAGGGTCAAGGAACAGCAGGGGAAGAAGAGGAGAAGAAAAAACAGAAGAGAGGTGGAAGGGGTCAAATAAAA
CAAAAAAAGAAGACCGTACCACAAAAGGTTACTATAGCCAAAATTCCCAGAGCAAAGAAGAAATATGTGACAAGAGTATGTGGCCTTGCAACTTTTGAAATTGAT
CTTAAAGAAGCACAAAGATTTTTTGCTCAAAAATTCTCCTGTGGTGCCTCAGTAACAGGGGAGGATGAAATTATCATTCAGGGAGATTTTACAGATGACATAATT
GATGTCATTCAGGAAAAATGGCCAGAGGTAGATGATGACAGCATCGAAGATCTTGGAGAAGTAAAGAAGTGA





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>DENR|8562|protein
MAADISESSGADCKGDPRNSAKLDADYPLRVLYCGVCSLPTEYCEYMPDVAKCRQWLEKNFPNEFAKLTVENSPKQEAGISEGQGTAGEEEEKKKQKRGGRGQIK
QKKKTVPQKVTIAKIPRAKKKYVTRVCGLATFEIDLKEAQRFFAQKFSCGASVTGEDEIIIQGDFTDDIIDVIQEKWPEVDDDSIEDLGEVKK



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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 (3) 0 (0) 0 (0) 0 (0) 2 (2) 0 (0) 0 (0) 0 (0) 20 (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
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Marshall, 2008 - SNP microarrayASD 427 238 189 - 427 500 927
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top