Evidence Details for DBNDD2
Basic Information Top
| Gene Symbol: | DBNDD2 ( C20orf35,CK1BP,HSMNP1 ) |
|---|---|
| Gene Full Name: | dysbindin (dystrobrevin binding protein 1) domain containing 2 |
| Band: | 20q13.12 |
| Quick Links | Entrez ID:55861; OMIM: 611453; Uniprot ID:DBND2_HUMAN; ENSEMBL ID: ENSG00000204070,ENSG00000244274; HGNC ID: 15881 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>DBNDD2|55861|nucleotide
ATGGACCCAAATCCTCGGGCCGCCCTGGAGCGCCAGCAGCTCCGCCTTCGGGAGCGGCAAAAATTCTTCGAGGACATTTTACAGCCAGAGACAGAGTTTGTCTTT
CCTCTGTCCCATCTGCATCTCGAGTCGCAGAGACCCCCCATAGGTAGTATCTCATCCATGGAAGTGAATGTGGACACACTGGAGCAAGTAGAACTTATTGACCTT
GGGGACCCGGATGCAGCAGATGTGTTCTTGCCTTGCGAAGATCCTCCACCAACCCCCCAGTCGTCTGGGATGGACAACCATTTGGAGGAGCTGAGCCTGCCGGTG
CCTACATCAGACAGGACCACATCTAGGACCTCCTCCTCCTCCTCCTCCGACTCCTCCACCAACCTGCATAGCCCAAATCCAAGTGATGATGGAGCAGATACGCCC
TTGGCACAGTCGGATGAAGAGGAGGAAAGGGGTGATGGAGGGGCAGAGCCTGGAGCCTGCAGCTAG
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ATGGACCCAAATCCTCGGGCCGCCCTGGAGCGCCAGCAGCTCCGCCTTCGGGAGCGGCAAAAATTCTTCGAGGACATTTTACAGCCAGAGACAGAGTTTGTCTTT
CCTCTGTCCCATCTGCATCTCGAGTCGCAGAGACCCCCCATAGGTAGTATCTCATCCATGGAAGTGAATGTGGACACACTGGAGCAAGTAGAACTTATTGACCTT
GGGGACCCGGATGCAGCAGATGTGTTCTTGCCTTGCGAAGATCCTCCACCAACCCCCCAGTCGTCTGGGATGGACAACCATTTGGAGGAGCTGAGCCTGCCGGTG
CCTACATCAGACAGGACCACATCTAGGACCTCCTCCTCCTCCTCCTCCGACTCCTCCACCAACCTGCATAGCCCAAATCCAAGTGATGATGGAGCAGATACGCCC
TTGGCACAGTCGGATGAAGAGGAGGAAAGGGGTGATGGAGGGGCAGAGCCTGGAGCCTGCAGCTAG
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>DBNDD2|55861|protein
MDPNPRAALERQQLRLRERQKFFEDILQPETEFVFPLSHLHLESQRPPIGSISSMEVNVDTLEQVELIDLGDPDAADVFLPCEDPPPTPQSSGMDNHLEELSLPV
PTSDRTTSRTSSSSSSDSSTNLHSPNPSDDGADTPLAQSDEEEERGDGGAEPGACS
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MDPNPRAALERQQLRLRERQKFFEDILQPETEFVFPLSHLHLESQRPPIGSISSMEVNVDTLEQVELIDLGDPDAADVFLPCEDPPPTPQSSGMDNHLEELSLPV
PTSDRTTSRTSSSSSSDSSTNLHSPNPSDDGADTPLAQSDEEEERGDGGAEPGACS
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Evidence summary TopClick the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
| 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 (0) | 1 (1) | 0 (0) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 3 (2) |
Syndromic Autism Gene TopGenome-Wide Association Studies(By Ethnic Group) TopCNV Studies TopLinkage Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Allen-Brady, 2008 | - | SNP-based genomic screen |  | | ASD | 1 | - | 1 | - | 7 | 22 | 29 |
Low Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies Top Microarray Studies: 1
| Reference | Source | Tissue | #Subjects (% Women) |
ADI-R | ADOS | Endo- pheno | Diagnosis | Normal Controls (% Women) |
Fold Change | Up/ Down | P/Q value | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Nishimura, 2007_1 | America | lymphoblastoid cell lines | 8 (-) | | | autism with FMR1-FM | autism | 15 (-) |
0.87 | Down | 0.0000062 | |
| ||||||||||||
Proteomics Studies:0
| Reference | Source | Tissue | Platform | #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Normal Controls(% Women) | |
|---|---|---|---|---|---|---|---|---|---|
| No Evidence. | |||||||||
NGS de novo Mutation Studies TopNGS Mosaic SNV Studies TopNGS Other Studies Top Low Scale Gene Studies TopContact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.