Human Gene Module / Chromosome 10 / DYDC1

DYDC1DPY30 domain containing 1

SFARI Gene Score
2
Strong Candidate Criteria 2.1
Autism Reports / Total Reports
2 / 2
Rare Variants / Common Variants
4 / 0
Aliases
DYDC1, RSD9,  DPY30D1
Associated Syndromes
-
Chromosome Band
10q23.1
Associated 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.

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
2

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

2

Strong Candidate

See all Category 2 Genes

We 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
3
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2

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
4
icon
3

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
4
icon
4

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
icon
4

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]
Krishnan and colleagues generated probability scores genome-wide by using a machine learning approach on a human brain-specific gene network. The method was first presented in Nat Neurosci 19, 1454-1462 (2016), and scores for more than 25,000 RefSeq genes can be accessed in column G of supplementary table 3 (see: http://www.nature.com/neuro/journal/v19/n11/extref/nn.4353-S5.xlsx). A searchable browser, with the ability to view networks of associated ASD risk genes, can be found at asd.princeton.edu.
ExAC Score

Score 0.002065792471693

Ranking 11246/18225 scored genes


[Show Scoring Methodology]
The Exome Aggregation Consortium (ExAC) is a summary database of 60,706 exomes that has been widely used to estimate 'constraint' on mutation for individual genes. It was introduced by Lek et al. Nature 536, 285-291 (2016), and the ExAC browser can be found at exac.broadinstitute.org. The pLI score was developed as measure of intolerance to loss-of- function mutation. A pLI > 0.9 is generally viewed as highly constrained, and thus any loss-of- function mutations in autism in such a gene would be more likely to confer risk. For a full list of pLI scores see: ftp://ftp.broadinstitute.org/pub/ExAC_release/release0.3.1/functional_gene_constraint/fordist_cle aned_exac_nonTCGA_z_pli_rec_null_data.txt
Sanders TADA Score

Score 0.89595382883799

Ranking 6002/18665 scored genes


[Show Scoring Methodology]
The TADA score ('Transmission and De novo Association') was introduced by He et al. PLoS Genet 9(8):e1003671 (2013), and is a statistic that integrates evidence from both de novo and transmitted mutations. It forms the basis for the claim of 65 individual genes being strongly associated with autism risk at a false discovery rate of 0.1 (Sanders et al. Neuron 87, 1215-1233 (2015)). The calculated TADA score for 18,665 RefSeq genes can be found in column P of Supplementary Table 6 in the Sanders et al. paper (the column headed 'tadaFdrAscSscExomeSscAgpSmallDel'), which represents a combined analysis of exome data and small de novo deletions (see www.cell.com/cms/attachment/2038545319/2052606711/mmc7.xlsx).
Zhang D Score

Score -0.098761119972256

Ranking 12310/20870 scored genes


[Show Scoring Methodology]
The DAMAGES score (disease-associated mutation analysis using gene expression signatures), or D score, was developed to combine evidence from de novo loss-of- function mutation with evidence from cell-type- specific gene expression in the mouse brain (specifically translational profiles of 24 specific mouse CNS cell types isolated from 6 different brain regions). Genes with positive D scores are more likely to be associated with autism risk, with higher-confidence genes having higher D scores. This statistic was first presented by Zhang & Shen (Hum Mutat 38, 204- 215 (2017), and D scores for more than 20,000 RefSeq genes can be found in column M in supplementary table 2 from that paper.
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
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