Evidence Details for DBNDD1
Basic Information Top
| Gene Symbol: | DBNDD1 ( FLJ12582,MGC3101 ) |
|---|---|
| Gene Full Name: | dysbindin (dystrobrevin binding protein 1) domain containing 1 |
| Band: | 16q24.3 |
| Quick Links | Entrez ID:79007; OMIM: NA; Uniprot ID:DBND1_HUMAN; ENSEMBL ID: ENSG00000003249; HGNC ID: 28455 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>DBNDD1|79007|nucleotide
ATGGAGCCCCCGGAGGGCGCCGGCACCGGAGAGATCGTTAAGGAGGCTGAGGTGCCGCAGGCTGCGCTGGGCGTCCCAGCCCAGGGGACAGGGGACAATGGCCAC
ACGCCTGTGGAGGAGGAGGTCGGGGGCATCCCAGTACCAGCACCGGGGCTCCTGCAGGTCACGGAGAGGAGGCAGCCTCTGAGCAGCGTCTCCTCTCTGGAGGTC
CACTTCGACCTCCTGGACCTCACTGAGCTCACCGACATGTCGGACCAGGAGCTGGCCGAGGTCTTTGCTGACTCGGACGACGAGAACCTCAACACCGAGTCCCCA
GCAGGTCTGCACCCGCTGCCCCGGGCCGGCTACCTGCGCTCCCCTTCCTGGACGAGGACAAGGGCTGAGCAGAGCCACGAGAAGCAGCCCCTAGGCGACCCCGAG
CGGCAGGCCACAGTCCTGGACACGTTTCTCACTGTGGAGAGGCCCCAGGAGGACTAG
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ATGGAGCCCCCGGAGGGCGCCGGCACCGGAGAGATCGTTAAGGAGGCTGAGGTGCCGCAGGCTGCGCTGGGCGTCCCAGCCCAGGGGACAGGGGACAATGGCCAC
ACGCCTGTGGAGGAGGAGGTCGGGGGCATCCCAGTACCAGCACCGGGGCTCCTGCAGGTCACGGAGAGGAGGCAGCCTCTGAGCAGCGTCTCCTCTCTGGAGGTC
CACTTCGACCTCCTGGACCTCACTGAGCTCACCGACATGTCGGACCAGGAGCTGGCCGAGGTCTTTGCTGACTCGGACGACGAGAACCTCAACACCGAGTCCCCA
GCAGGTCTGCACCCGCTGCCCCGGGCCGGCTACCTGCGCTCCCCTTCCTGGACGAGGACAAGGGCTGAGCAGAGCCACGAGAAGCAGCCCCTAGGCGACCCCGAG
CGGCAGGCCACAGTCCTGGACACGTTTCTCACTGTGGAGAGGCCCCAGGAGGACTAG
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>DBNDD1|79007|protein
MEPPEGAGTGEIVKEAEVPQAALGVPAQGTGDNGHTPVEEEVGGIPVPAPGLLQVTERRQPLSSVSSLEVHFDLLDLTELTDMSDQELAEVFADSDDENLNTESP
AGLHPLPRAGYLRSPSWTRTRAEQSHEKQPLGDPERQATVLDTFLTVERPQED
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MEPPEGAGTGEIVKEAEVPQAALGVPAQGTGDNGHTPVEEEVGGIPVPAPGLLQVTERRQPLSSVSSLEVHFDLLDLTELTDMSDQELAEVFADSDDENLNTESP
AGLHPLPRAGYLRSPSWTRTRAEQSHEKQPLGDPERQATVLDTFLTVERPQED
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Evidence summary Top
Click 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) | 1 (1) | 0 (0) | 0 (0) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 3 (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 | ||||||
| Berkel, 2010 | Canada | SNP microarray | ![]() | ![]() | ASD | - | - | - | - | 396 | 5023 | 5419 |
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large 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 | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Ghahramani Seno, 2010_1 | Unknown | lymphoblastoid cell-line | 20 (35.00%) | ![]() | ![]() | - | AD | 22 (13.64%) |
1.48 | Up | 0.0431 | |
| ||||||||||||
| Ghahramani Seno, 2010_1 | Unknown | lymphoblastoid cell-line | 20 (35.00%) | ![]() | ![]() | - | AD | 22 (13.64%) |
1.48 | Up | 0.0455 | |
| ||||||||||||
Proteomics Studies:0
| Reference | Source | Tissue | Platform | #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Normal Controls(% Women) | |
|---|---|---|---|---|---|---|---|---|---|
| No Evidence. | |||||||||
NGS de novo Mutation Studies Top
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top
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