DCANP1

dendritic cell associated nuclear protein 1

Basic information

Region (hg38): 5:135444214-135447348

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.

• not_specified (43 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. These statistics are base on transcript: NM_000130848.3. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			37	6		43
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	37	6	0

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