AutismKB 2.0

Evidence Details for DPH1


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Basic Information Top
Gene Symbol:DPH1 ( DPH2L,DPH2L1,FLJ33211,OVCA1 )
Gene Full Name: DPH1 homolog (S. cerevisiae)
Band: 17p13.3
Quick LinksEntrez ID:1801; OMIM: 603527; Uniprot ID:DPH1_HUMAN; ENSEMBL ID: ENSG00000108963; HGNC ID: 3003
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>DPH1|1801|nucleotide
ATGCGCAGGCAGGTGATGGCGGCGCTGGTCGTATCCGGGGCAGCGGAGCAGGGCGGCCGAGACGGCCCTGGCAGAGGTCGGGCCCCTCGGGGCCGCGTGGCCAAT
CAGATCCCCCCTGAGATCCTGAAGAACCCTCAGCTGCAGGCAGCAATCCGGGTCCTGCCTTCCAACTACAACTTTGAGATCCCCAAGACCATCTGGAGGATCCAA
CAAGCCCAGGCCAAGAAGGTGGCCTTGCAAATGCCGGAAGGCCTCCTCCTCTTTGCCTGTACCATTGTGGATATCTTGGAAAGGTTCACGGAGGCCGAAGTGATG
GTGATGGGTGACGTGACCTACGGGGCTTGCTGTGTGGATGACTTCACAGCGAGGGCCCTGGGAGCTGACTTCTTGGTGCACTACGGCCACAGTTGCCTGATTCCC
ATGGACACCTCGGCCCAAGACTTCCGGGTGCTGTACGTCTTTGTGGACATCCGGATAGACACTACACACCTCCTGGACTCTCTCCGCCTCACCTTTCCCCCAGCC
ACTGCCCTTGCCCTGGTCAGCACCATTCAGTTTGTGTCGACCTTGCAGGCAGCCGCCCAGGAGCTGAAAGCCGAGTATCGTGTGAGTGTCCCACAGTGCAAGCCC
CTGTCCCCTGGAGAGATCCTGGGCTGCACATCCCCCCGACTGTCCAAAGAGGTGGAGGCCGTTGTGTATCTTGGAGATGGCCGCTTCCATCTGGAGTCTGTCATG
ATTGCCAACCCCAATGTCCCCGCTTACCGGTATGACCCATATAGCAAAGTCCTATCCAGAGAACACTATGACCACCAGCGCATGCAGGCTGCTCGCCAAGAAGCC
ATAGCCACTGCCCGCTCAGCTAAGTCCTGGGGCCTTATTCTGGGCACTTTGGGCCGCCAGGGCAGTCCTAAGATCCTGGAGCACCTGGAATCTCGACTCCGAGCC
TTGGGCCTTTCCTTTGTGAGGCTGCTGCTCTCTGAGATCTTCCCCAGCAAGCTTAGCCTACTTCCTGAGGTGGATGTGTGGGTGCAGGTGGCATGTCCACGTCTC
TCCATTGACTGGGGCACAGCCTTCCCCAAGCCGCTGCTGACACCCTATGAGGCGGCCGTGGCTCTGAGGGACATTTCCTGGCAGCAGCCCTACCCGATGGACTTC
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>DPH1|1801|protein
MRRQVMAALVVSGAAEQGGRDGPGRGRAPRGRVANQIPPEILKNPQLQAAIRVLPSNYNFEIPKTIWRIQQAQAKKVALQMPEGLLLFACTIVDILERFTEAEVM
VMGDVTYGACCVDDFTARALGADFLVHYGHSCLIPMDTSAQDFRVLYVFVDIRIDTTHLLDSLRLTFPPATALALVSTIQFVSTLQAAAQELKAEYRVSVPQCKP
LSPGEILGCTSPRLSKEVEAVVYLGDGRFHLESVMIANPNVPAYRYDPYSKVLSREHYDHQRMQAARQEAIATARSAKSWGLILGTLGRQGSPKILEHLESRLRA
LGLSFVRLLLSEIFPSKLSLLPEVDVWVQVACPRLSIDWGTAFPKPLLTPYEAAVALRDISWQQPYPMDFYAGSSLGPWTVNHGQDRRPHAPGRPARGKVQEGSA
RPPSAVACEDCSCRDEKVAPLAP
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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 (1) 0 (0) 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 12 (2)
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
Linkage Studies Top