DYDC1DPY30 domain containing 1
Autism Reports / Total Reports
2 / 2Rare Variants / Common Variants
4 / 0Aliases
DYDC1, RSD9, DPY30D1Associated Syndromes
-Chromosome Band
10q23.1Associated Disorders
-Relevance to Autism
A recurrent bigenic duplication involving the DYDC1 and DYDC2 genes was identified in seven unrelated ASD cases but not in 580 controls (Girirajan et al., 2013).
Molecular Function
Plays a crucial role during acrosome biogenesis. Expressed in brain and testis.
External Links
SFARI Genomic Platforms
Reports related to DYDC1 (2 Reports)
# | Type | Title | Author, Year | Autism Report | Associated Disorders |
---|---|---|---|---|---|
1 | Primary | Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder | Girirajan S , et al. (2013) | Yes | - |
2 | Support | Recessive gene disruptions in autism spectrum disorder | Doan RN , et al. (2019) | Yes | - |
Rare Variants (4)
Status | Allele Change | Residue Change | Variant Type | Inheritance Pattern | Parental Transmission | Family Type | PubMed ID | Author, Year |
---|---|---|---|---|---|---|---|---|
c.120T>A | p.Tyr40Ter | stop_gained | Unknown | - | Unknown | 31209396 | Doan RN , et al. (2019) | |
- | - | copy_number_gain | Familial | Maternal | Simplex | 23375656 | Girirajan S , et al. (2013) | |
- | - | copy_number_gain | Familial | Paternal | Simplex | 23375656 | Girirajan S , et al. (2013) | |
- | - | copy_number_gain | Familial | Maternal | Multiplex | 23375656 | Girirajan S , et al. (2013) |
Common Variants
No common variants reported.
SFARI Gene score
Strong Candidate


A recurrent bigenic duplication involving the DYDC1 and DYDC2 genes was identified in seven unrelated ASD cases but not in 580 controls (Girirajan et al., 2013).
Score Delta: Score remained at 2
criteria met
See SFARI Gene'scoring criteriaWe considered a rigorous statistical comparison between cases and controls, yielding genome-wide statistical significance, with independent replication, to be the strongest possible evidence for a gene. These criteria were relaxed slightly for category 2.
4/1/2022

Decreased from 3 to 2
Description
A recurrent bigenic duplication involving the DYDC1 and DYDC2 genes was identified in seven unrelated ASD cases but not in 580 controls (Girirajan et al., 2013).
10/1/2019

Decreased from 4 to 3
New Scoring Scheme
Description
A recurrent bigenic duplication involving the DYDC1 and DYDC2 genes was identified in seven unrelated ASD cases but not in 580 controls (Girirajan et al., 2013).
Reports Added
[New Scoring Scheme]7/1/2019

Decreased from 4 to 4
Description
A recurrent bigenic duplication involving the DYDC1 and DYDC2 genes was identified in seven unrelated ASD cases but not in 580 controls (Girirajan et al., 2013).
7/1/2015

Increased from to 4
Description
A recurrent bigenic duplication involving the DYDC1 and DYDC2 genes was identified in seven unrelated ASD cases but not in 580 controls (Girirajan et al., 2013).
Krishnan Probability Score
Score 0.46227013480919
Ranking 9327/25841 scored genes
[Show Scoring Methodology]
ExAC Score
Score 0.002065792471693
Ranking 11246/18225 scored genes
[Show Scoring Methodology]
Sanders TADA Score
Score 0.89595382883799
Ranking 6002/18665 scored genes
[Show Scoring Methodology]
Zhang D Score
Score -0.098761119972256
Ranking 12310/20870 scored genes
[Show Scoring Methodology]
Interactome
- Protein Binding
- DNA Binding
- RNA Binding
- Protein Modification
- Direct Regulation
- ASD-Linked Genes
Interaction Table
Interactor Symbol | Interactor Name | Interactor Organism | Interactor Type | Entrez ID | Uniprot ID |
---|---|---|---|---|---|
TFPT | TCF3 (E2A) fusion partner (in childhood Leukemia) | Human | Protein Binding | 29844 | A0A024R4Q5 |
TXLNB | taxilin beta | Human | Protein Binding | 167838 | Q8N3L3 |