DCANP1

dendritic cell associated nuclear protein 1

Basic information

Region (hg38): 5:135444213-135447348

Previous symbols: [ "C5orf20" ]

Links

ENSG00000251380 ∙ NCBI:140947 ∙ OMIM:609710 ∙ HGNC:24459 ∙ Uniprot:Q8TF63 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

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

• Inborn genetic diseases (16 variants)

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			13	3		16
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	13	3	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: gnomAD

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: dbNSFP

• Function: FUNCTION: Binds with and transactivates the corticotropin- releasing hormone (CRH) promoter. {ECO:0000269|PubMed:20693543}.

Recessive Scores

• pRec: 0.0891

Intolerance Scores

• rvis_EVS: 1.4
• rvis_percentile_EVS: 94.7

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.146

Essentials

• essential_gene_gene_trap: N

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