Human Gene Module / Chromosome 16 / HYDIN

HYDINHYDIN, axonemal central pair apparatus protein

SFARI Gene Score
2
Strong Candidate Criteria 2.1
Autism Reports / Total Reports
4 / 5
Rare Variants / Common Variants
11 / 1
Aliases
HYDIN, CILD5,  HYDIN1,  HYDIN2,  PPP1R31
Associated Syndromes
-
Chromosome Band
16q22.2
Associated Disorders
-
Relevance to Autism

Three large CNVs (one deletion and two duplications) that include HYDIN were identified in unrelated ASD probands; of the events affecting HYDIN, two arose de novo in simplex ASD cases, and one was inherited in a multiplex autism family where the CNV segregated with disease (Girirajan et al., 2013).

Molecular Function

This gene encodes a protein that may be involved in cilia motility. Mutations in this gene cause autosomal recessive primary ciliary dyskinesia-5, a disorder characterized by the accumulation of cerebrospinal fluid within the ventricles of the brain.

External Links
Gene CardOpen Targets PlatformgnomAD browserPubMed
Human
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SFARI Genomic Platforms
GPF browser SFARI genome browser
Reports related to HYDIN (5 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 Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder Lim ET , et al. (2017) Yes -
3 Positive Association Common schizophrenia alleles are enriched in mutation-intolerant genes and in regions under strong background selection Pardias AF , et al. (2018) No -
4 Support - Zhou X et al. (2022) Yes -
5 Support - Yuan B et al. (2023) Yes -
Rare Variants   (11)
Status Allele Change Residue Change Variant Type Inheritance Pattern Parental Transmission Family Type PubMed ID Author, Year
- - copy_number_gain De novo - Simplex 23375656 Girirajan S , et al. (2013)
- - copy_number_loss De novo - Simplex 23375656 Girirajan S , et al. (2013)
c.-109T>C - 5_prime_UTR_variant De novo - Simplex 35982159 Zhou X et al. (2022)
c.4829G>A p.Arg1610Gln missense_variant De novo - - 35982159 Zhou X et al. (2022)
c.9053T>C p.Leu3018Ser missense_variant De novo - - 35982159 Zhou X et al. (2022)
c.11738C>T p.Pro3913Leu missense_variant De novo - - 35982159 Zhou X et al. (2022)
c.15191G>A p.Arg5064His missense_variant De novo - - 35982159 Zhou X et al. (2022)
c.13778A>G p.Tyr4593Cys missense_variant De novo - - 36881370 Yuan B et al. (2023)
c.2253C>T p.Thr751%3D synonymous_variant De novo - - 35982159 Zhou X et al. (2022)
- - copy_number_gain Familial Paternal Multiplex 23375656 Girirajan S , et al. (2013)
c.9283A>T p.Asn3095Tyr missense_variant De novo - Simplex 28714951 Lim ET , et al. (2017)
Common Variants   (1)
Status Allele Change Residue Change Variant Type Inheritance Pattern Paternal Transmission Family Type PubMed ID Author, Year
A>G - intergenic_variant - - - 29483656 Pardias AF , et al. (2018)
SFARI Gene score
2

Strong Candidate

Three large CNVs (one deletion and two duplications) that include HYDIN were identified in unrelated ASD probands; of the events affecting HYDIN, two arose de novo in simplex ASD cases, and one was inherited in a multiplex autism family where the CNV segregated with disease (Girirajan et al., 2013). By comparison, no HYDIN exon-disrupting CNVs were observed in two independent control cohorts.

Score Delta: Score remained at 2

criteria met
See SFARI Gene'scoring criteria
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
icon
2

Decreased from 3 to 2

Description

Three large CNVs (one deletion and two duplications) that include HYDIN were identified in unrelated ASD probands; of the events affecting HYDIN, two arose de novo in simplex ASD cases, and one was inherited in a multiplex autism family where the CNV segregated with disease (Girirajan et al., 2013). By comparison, no HYDIN exon-disrupting CNVs were observed in two independent control cohorts.

10/1/2019
4
icon
3

Decreased from 4 to 3

New Scoring Scheme
Description

Three large CNVs (one deletion and two duplications) that include HYDIN were identified in unrelated ASD probands; of the events affecting HYDIN, two arose de novo in simplex ASD cases, and one was inherited in a multiplex autism family where the CNV segregated with disease (Girirajan et al., 2013). By comparison, no HYDIN exon-disrupting CNVs were observed in two independent control cohorts.

Reports Added
[New Scoring Scheme]
7/1/2017
4
icon
4

Decreased from 4 to 4

Description

Three large CNVs (one deletion and two duplications) that include HYDIN were identified in unrelated ASD probands; of the events affecting HYDIN, two arose de novo in simplex ASD cases, and one was inherited in a multiplex autism family where the CNV segregated with disease (Girirajan et al., 2013). By comparison, no HYDIN exon-disrupting CNVs were observed in two independent control cohorts.

Reports Added
[Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder.2017]
7/1/2015
icon
4

Increased from to 4

Description

Three large CNVs (one deletion and two duplications) that include HYDIN were identified in unrelated ASD probands; of the events affecting HYDIN, two arose de novo in simplex ASD cases, and one was inherited in a multiplex autism family where the CNV segregated with disease (Girirajan et al., 2013). By comparison, no HYDIN exon-disrupting CNVs were observed in two independent control cohorts.

Krishnan Probability Score

Score 0.49302903936387

Ranking 4316/25841 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.
Original Source
Sanders TADA Score

Score 0.95078088238236

Ranking 18626/18665 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).
Original Source
Zhang D Score

Score 0.17852274563749

Ranking 4635/20870 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.
Original Source
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