DCANP1
Basic information
Region (hg38): 5:135444214-135447348
Previous symbols: [ "C5orf20" ]
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 DCANP1 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 | 0 | |||||
missense | 19 | 23 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 0 | |||||
non coding | 0 | |||||
Total | 0 | 0 | 19 | 4 | 0 |
Variants in DCANP1
This is a list of pathogenic ClinVar variants found in the DCANP1 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
5-135446396-C-T | not specified | Uncertain significance (Jun 06, 2023) | ||
5-135446400-G-A | not specified | Uncertain significance (Jun 06, 2023) | ||
5-135446403-G-A | not specified | Uncertain significance (Sep 16, 2021) | ||
5-135446412-G-C | not specified | Uncertain significance (Jan 24, 2024) | ||
5-135446444-A-C | not specified | Uncertain significance (Jun 16, 2023) | ||
5-135446475-G-A | not specified | Likely benign (Dec 21, 2023) | ||
5-135446492-T-C | not specified | Uncertain significance (Jun 29, 2022) | ||
5-135446505-C-T | not specified | Uncertain significance (Sep 16, 2021) | ||
5-135446559-A-G | not specified | Uncertain significance (Dec 02, 2022) | ||
5-135446607-C-T | not specified | Likely benign (Aug 06, 2021) | ||
5-135446646-G-T | not specified | Uncertain significance (Dec 30, 2023) | ||
5-135446652-G-C | not specified | Uncertain significance (Jan 03, 2024) | ||
5-135446673-C-T | not specified | Uncertain significance (Jul 06, 2021) | ||
5-135446690-G-A | not specified | Likely benign (Jan 23, 2023) | ||
5-135446756-C-T | not specified | Uncertain significance (Oct 20, 2021) | ||
5-135446798-G-A | not specified | Likely benign (Feb 28, 2023) | ||
5-135446862-C-G | not specified | Uncertain significance (Nov 10, 2022) | ||
5-135446934-G-C | not specified | Uncertain significance (Jan 02, 2024) | ||
5-135446984-G-T | not specified | Uncertain significance (Oct 22, 2021) | ||
5-135446986-G-T | not specified | Uncertain significance (Dec 08, 2023) | ||
5-135447038-T-A | not specified | Uncertain significance (Apr 25, 2022) | ||
5-135447042-G-T | not specified | Uncertain significance (Feb 21, 2024) | ||
5-135447063-C-T | not specified | Uncertain significance (Mar 21, 2022) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
DCANP1 | protein_coding | protein_coding | ENST00000503143 | 1 | 3134 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | -0.933 | 164 | 134 | 1.23 | 0.00000729 | 1533 |
Missense in Polyphen | 9 | 8.8073 | 1.0219 | 93 | ||
Synonymous | -0.957 | 69 | 59.6 | 1.16 | 0.00000343 | 534 |
Loss of Function |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.00 | 0.00 |
Ashkenazi Jewish | ||
East Asian | ||
Finnish | ||
European (Non-Finnish) | ||
Middle Eastern | ||
South Asian | ||
Other |
dbNSFP
Source:
- Function
- FUNCTION: Binds with and transactivates the corticotropin- releasing hormone (CRH) promoter. {ECO:0000269|PubMed:20693543}.;
Recessive Scores
- pRec
- 0.0891
Intolerance Scores
- loftool
- rvis_EVS
- 1.4
- rvis_percentile_EVS
- 94.7
Haploinsufficiency Scores
- pHI
- hipred
- N
- hipred_score
- 0.146
- ghis
Essentials
- essential_gene_CRISPR
- essential_gene_CRISPR2
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- gene_indispensability_score
Gene ontology
- Biological process
- thorax and anterior abdomen determination;trigeminal nerve development;vestibulocochlear nerve formation;peristalsis;auditory behavior;genitalia morphogenesis;inner ear morphogenesis;regulation of muscle organ development;genitalia development;inner ear development;neuromuscular process controlling balance;mastication;cochlea development;cochlea morphogenesis;craniofacial suture morphogenesis;learned vocalization behavior;negative regulation of relaxation of muscle;negative regulation of saliva secretion;hard palate morphogenesis
- Cellular component
- nucleus;cytoplasm
- Molecular function
- DNA binding;protein binding