CDH10cadherin 10, type 2 (T2-cadherin)
Autism Reports / Total Reports
7 / 11Rare Variants / Common Variants
7 / 6Aliases
CDH10, T2-cadherinAssociated Syndromes
-Chromosome Band
5p14.2-p14.1Associated Disorders
-Relevance to Autism
Genetic association has been found between the CDH10 gene and autism in two large cohorts (AGRE and ACC) of European ancestry and replicated in two other cohorts (CAP and CART) (Wang et al., 2009).
Molecular Function
cell adhesion
External Links
SFARI Genomic Platforms
Reports related to CDH10 (11 Reports)
| # | Type | Title | Author, Year | Autism Report | Associated Disorders |
|---|---|---|---|---|---|
| 1 | Highly Cited | The human cadherin-10 gene: complete coding sequence, predominant expression in the brain, and mapping on chromosome 5p13-14 | Kools P , et al. (1999) | No | - |
| 2 | Highly Cited | Identification of three human type-II classic cadherins and frequent heterophilic interactions between different subclasses of type-II classic cadherins | Shimoyama Y , et al. (2000) | No | - |
| 3 | Recent Recommendation | Cadherin-10 is a novel blood-brain barrier adhesion molecule in human and mouse | Williams MJ , et al. (2005) | No | - |
| 4 | Recent Recommendation | The intercellular adhesion molecule, cadherin-10, is a marker for human prostate luminal epithelial cells that is not expressed in prostate cancer | Walker MM , et al. (2007) | No | - |
| 5 | Primary | Common genetic variants on 5p14.1 associate with autism spectrum disorders | Wang K , et al. (2009) | Yes | - |
| 6 | Positive Association | The association of rs4307059 and rs35678 markers with autism spectrum disorders is replicated in Italian families | Prandini P , et al. (2012) | Yes | - |
| 7 | Positive Association | A genome-wide association study of autism incorporating autism diagnostic interview-revised, autism diagnostic observation schedule, and social responsiveness scale | Connolly JJ , et al. (2012) | Yes | - |
| 8 | Support | Excess of rare, inherited truncating mutations in autism | Krumm N , et al. (2015) | Yes | - |
| 9 | Support | De novo genic mutations among a Chinese autism spectrum disorder cohort | Wang T , et al. (2016) | Yes | - |
| 10 | Support | Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks | Ruzzo EK , et al. (2019) | Yes | - |
| 11 | Support | - | Zhou X et al. (2022) | Yes | - |
Rare Variants (7)
| Status | Allele Change | Residue Change | Variant Type | Inheritance Pattern | Parental Transmission | Family Type | PubMed ID | Author, Year |
|---|---|---|---|---|---|---|---|---|
| c.1877-1G>A | - | splice_site_variant | Unknown | - | - | 27824329 | Wang T , et al. (2016) | |
| c.698A>G | p.Tyr233Cys | missense_variant | De novo | - | - | 35982159 | Zhou X et al. (2022) | |
| c.1009G>A | p.Asp337Asn | missense_variant | De novo | - | - | 35982159 | Zhou X et al. (2022) | |
| c.1474T>C | p.Phe492Leu | missense_variant | De novo | - | - | 35982159 | Zhou X et al. (2022) | |
| c.-205del | - | frameshift_variant | De novo | - | Simplex | 25961944 | Krumm N , et al. (2015) | |
| c.1480G>A | p.Asp494Asn | missense_variant | Familial | Paternal | - | 27824329 | Wang T , et al. (2016) | |
| c.95-1G>C | - | splice_site_variant | Familial | Maternal | Multiplex | 31398340 | Ruzzo EK , et al. (2019) |
Common Variants (6)
| Status | Allele Change | Residue Change | Variant Type | Inheritance Pattern | Paternal Transmission | Family Type | PubMed ID | Author, Year |
|---|---|---|---|---|---|---|---|---|
| - | - | intergenic_variant | - | - | - | 19404256 | Wang K , et al. (2009) | |
| - | - | intergenic_variant | - | - | - | 22935194 | Connolly JJ , et al. (2012) | |
| - | C to T | intergenic_variant | - | - | - | 19404256 | Wang K , et al. (2009) | |
| - | T to C | intergenic_variant | - | - | - | 19404256 | Wang K , et al. (2009) | |
| - | C/T | intergenic_variant | - | - | - | 22739633 | Prandini P , et al. (2012) | |
| - | C/T | intergenic_variant | - | - | - | 22935194 | Connolly JJ , et al. (2012) |
SFARI Gene score
2
Strong Candidate
Flanking gene to SNP with strong association (Wang et al., 2009). A de novo frameshift variant in the CDH10 gene was identified in an ASD proband from the Simons Simplex Collection (PMID 25961944).
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
3
2
Decreased from 3 to 2
Description
Flanking gene to SNP with strong association (Wang et al., 2009). A de novo frameshift variant in the CDH10 gene was identified in an ASD proband from the Simons Simplex Collection (PMID 25961944).
10/1/2019
4
3
Decreased from 4 to 3
New Scoring Scheme
Description
Flanking gene to SNP with strong association (Wang et al., 2009). A de novo frameshift variant in the CDH10 gene was identified in an ASD proband from the Simons Simplex Collection (PMID 25961944).
Reports Added
[New Scoring Scheme]7/1/2019
4
4
Decreased from 4 to 4
Description
Flanking gene to SNP with strong association (Wang et al., 2009). A de novo frameshift variant in the CDH10 gene was identified in an ASD proband from the Simons Simplex Collection (PMID 25961944).
10/1/2016
4
4
Decreased from 4 to 4
Description
Flanking gene to SNP with strong association (Wang et al., 2009). A de novo frameshift variant in the CDH10 gene was identified in an ASD proband from the Simons Simplex Collection (PMID 25961944).
4/1/2015
4
4
Decreased from 4 to 4
Description
Flanking gene to SNP with strong association (Wang et al., 2009).
7/1/2014
No data
4
Increased from No data to 4
Description
Flanking gene to SNP with strong association (Wang et al., 2009).
4/1/2014
No data
4
Increased from No data to 4
Description
Flanking gene to SNP with strong association (Wang et al., 2009).
Krishnan Probability Score
Score 0.61297597961309
Ranking 150/25841 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 0.30915297708992
Ranking 6461/18225 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 0.8651317122393
Ranking 4072/18665 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).
Larsen Cumulative Evidence Score
Score 62
Ranking 25/461 scored genes
[Show Scoring Methodology]
Larsen and colleagues generated gene scores based on the sum of evidence for all available
ASD-associated variants in a gene, with assessments based on mode of inheritance, effect size,
and variant frequency in the general population. The approach was first presented in Mol Autism
7:44 (2016), and scores for 461 genes can be found in column I in supplementary table 4 from
that paper.
Zhang D Score
Score -0.11122456486599
Ranking 12772/20870 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.
External PIN Data
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 |
|---|---|---|---|---|---|
| CDH6 | Cadherin-6 | Human | Protein Binding | 1004 | P55285 |
| CDH9 | Cadherin-9 | Human | Protein Binding | 1007 | Q9ULB4 |
| PTN | Pleiotrophin | Human | Protein Binding | 5764 | P21246 |