DCANP1

dendritic cell associated nuclear protein 1

Basic information

Region (hg38): 5:135444214-135447348

Previous symbols: [ "C5orf20" ]

Links

ENSG00000251380NCBI:140947OMIM:609710HGNC:24459Uniprot:Q8TF63AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the DCANP1 gene.

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
clinvar
4
clinvar
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)2558061
5-135446400-G-A not specified Uncertain significance (Jun 06, 2023)2520360
5-135446403-G-A not specified Uncertain significance (Sep 16, 2021)2221197
5-135446412-G-C not specified Uncertain significance (Jan 24, 2024)3080368
5-135446444-A-C not specified Uncertain significance (Jun 16, 2023)2604400
5-135446475-G-A not specified Likely benign (Dec 21, 2023)3080365
5-135446492-T-C not specified Uncertain significance (Jun 29, 2022)2348226
5-135446505-C-T not specified Uncertain significance (Sep 16, 2021)2250176
5-135446559-A-G not specified Uncertain significance (Dec 02, 2022)2331966
5-135446607-C-T not specified Likely benign (Aug 06, 2021)2372400
5-135446646-G-T not specified Uncertain significance (Dec 30, 2023)3080364
5-135446652-G-C not specified Uncertain significance (Jan 03, 2024)3080363
5-135446673-C-T not specified Uncertain significance (Jul 06, 2021)2234784
5-135446690-G-A not specified Likely benign (Jan 23, 2023)2465231
5-135446756-C-T not specified Uncertain significance (Oct 20, 2021)2256010
5-135446798-G-A not specified Likely benign (Feb 28, 2023)2464440
5-135446862-C-G not specified Uncertain significance (Nov 10, 2022)2222334
5-135446934-G-C not specified Uncertain significance (Jan 02, 2024)3080361
5-135446984-G-T not specified Uncertain significance (Oct 22, 2021)2406917
5-135446986-G-T not specified Uncertain significance (Dec 08, 2023)3080360
5-135447038-T-A not specified Uncertain significance (Apr 25, 2022)2364346
5-135447042-G-T not specified Uncertain significance (Feb 21, 2024)3080366
5-135447063-C-T not specified Uncertain significance (Mar 21, 2022)2397592

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
DCANP1protein_codingprotein_codingENST00000503143 13134
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-0.9331641341.230.000007291533
Missense in Polyphen98.80731.021993
Synonymous-0.9576959.61.160.00000343534
Loss of Function

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.000.00
Ashkenazi Jewish
East Asian
Finnish
European (Non-Finnish)
Middle Eastern
South Asian
Other

dbNSFP

Source: dbNSFP

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