DACT2
Basic information
Region (hg38): 6:168292830-168319777
Previous symbols: [ "C6orf116" ]
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the DACT2 gene is commonly pathogenic or not.
In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.
Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.
Variant type | Pathogenic | Likely pathogenic | VUS | Likely benign | Benign | Sum |
---|---|---|---|---|---|---|
synonymous | 3 | |||||
missense | 79 | 10 | 89 | |||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 0 | |||||
non coding | 2 | |||||
Total | 0 | 0 | 81 | 12 | 1 |
Variants in DACT2
This is a list of pathogenic ClinVar variants found in the DACT2 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
6-168307512-G-A | not specified | Uncertain significance (Dec 02, 2024) | ||
6-168307583-G-A | not specified | Uncertain significance (May 21, 2024) | ||
6-168307583-G-T | not specified | Uncertain significance (Dec 12, 2023) | ||
6-168307590-C-T | not specified | Uncertain significance (Jan 09, 2025) | ||
6-168307595-G-A | not specified | Uncertain significance (Mar 07, 2025) | ||
6-168307620-A-G | not specified | Uncertain significance (Jul 28, 2021) | ||
6-168307635-C-T | not specified | Uncertain significance (Sep 26, 2023) | ||
6-168307636-G-A | Benign (Aug 14, 2017) | |||
6-168307647-C-T | not specified | Uncertain significance (May 30, 2023) | ||
6-168307668-G-C | not specified | Uncertain significance (May 31, 2024) | ||
6-168307674-C-T | not specified | Uncertain significance (Dec 11, 2023) | ||
6-168307700-G-T | not specified | Uncertain significance (Nov 09, 2021) | ||
6-168307707-C-T | not specified | Uncertain significance (May 10, 2024) | ||
6-168307710-C-T | not specified | Uncertain significance (May 13, 2022) | ||
6-168307740-G-A | not specified | Uncertain significance (Dec 17, 2024) | ||
6-168307748-C-T | not specified | Uncertain significance (Jan 29, 2025) | ||
6-168307752-C-T | not specified | Uncertain significance (Jan 01, 2025) | ||
6-168307787-G-A | not specified | Uncertain significance (Aug 10, 2021) | ||
6-168307787-G-T | not specified | Uncertain significance (Mar 21, 2023) | ||
6-168307788-T-C | not specified | Likely benign (Mar 06, 2023) | ||
6-168307854-C-T | not specified | Likely benign (Jan 29, 2024) | ||
6-168307860-T-C | not specified | Uncertain significance (Jan 30, 2024) | ||
6-168307899-G-A | not specified | Uncertain significance (Feb 11, 2025) | ||
6-168307938-G-A | not specified | Uncertain significance (Dec 15, 2022) | ||
6-168307972-C-T | Likely benign (Nov 01, 2024) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
DACT2 | protein_coding | protein_coding | ENST00000366795 | 4 | 26925 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.00940 | 0.827 | 0 | 0 | 0 | 0 | 0.00 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 1.40 | 340 | 421 | 0.808 | 0.0000266 | 4855 |
Missense in Polyphen | 95 | 117.85 | 0.80613 | 1567 | ||
Synonymous | 2.25 | 156 | 196 | 0.796 | 0.0000138 | 1713 |
Loss of Function | 1.11 | 4 | 7.22 | 0.554 | 3.10e-7 | 115 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.00 | 0.00 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.00 | 0.00 |
Finnish | 0.00 | 0.00 |
European (Non-Finnish) | 0.00 | 0.00 |
Middle Eastern | 0.00 | 0.00 |
South Asian | 0.00 | 0.00 |
Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Involved in regulation of intracellular signaling pathways during development. Negatively regulates the Nodal signaling pathway, possibly by promoting the lysosomal degradation of Nodal receptors, such as TGFBR1. May be involved in control of the morphogenetic behavior of kidney ureteric bud cells by keeping cells epithelial and restraining their mesenchymal character. May play an inhibitory role in the re-epithelialization of skin wounds by attenuating TGF-beta signaling (By similarity). {ECO:0000250}.;
- Pathway
- Vitamin D Receptor Pathway;TGF-beta receptor signaling
(Consensus)
Recessive Scores
- pRec
- 0.118
Intolerance Scores
- loftool
- rvis_EVS
- 1.28
- rvis_percentile_EVS
- 93.77
Haploinsufficiency Scores
- pHI
- 0.200
- hipred
- hipred_score
- ghis
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.0602
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Dact2
- Phenotype
- cellular phenotype; homeostasis/metabolism phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); immune system phenotype; hematopoietic system phenotype;
Zebrafish Information Network
- Gene name
- dact2
- Affected structure
- whole organism
- Phenotype tag
- abnormal
- Phenotype quality
- decreased size
Gene ontology
- Biological process
- epithelial cell morphogenesis;negative regulation of cell adhesion;regulation of Wnt signaling pathway;skin development;inner medullary collecting duct development;negative regulation of nodal signaling pathway
- Cellular component
- cytoplasm
- Molecular function
- protein kinase C binding;beta-catenin binding;transcription factor binding;protein kinase A binding;delta-catenin binding