DEUP1

deuterosome assembly protein 1

Basic information

Region (hg38): 11:93329971-93438487

Previous symbols: [ "CCDC67" ]

Links

ENSG00000165325

∙ NCBI:159989 ∙ OMIM:617148 ∙ HGNC:26344 ∙ Uniprot:Q05D60 ∙ 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 DEUP1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DEUP1 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			1 clinvar			1
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	1	0	0

Variants in DEUP1

This is a list of pathogenic ClinVar variants found in the DEUP1 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
11-93370184-C-A		not specified	Uncertain significance (Oct 12, 2021)	2254742
11-93415053-C-T		Polycystic kidney disease	Uncertain significance (-)	917930

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DEUP1	protein_coding	protein_coding	ENST00000298050	13	108517

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
8.19e-13	0.656	124305	0	330	124635	0.00132

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.236	263	274	0.960	0.0000129	4002
Missense in Polyphen		88	93.632	0.93985		1476
Synonymous	-0.715	100	91.3	1.10	0.00000417	985
Loss of Function	1.60	24	34.1	0.704	0.00000191	458

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00143	0.00141
Ashkenazi Jewish	0.00	0.00
East Asian	0.00151	0.00150
Finnish	0.00172	0.00167
European (Non-Finnish)	0.00149	0.00139
Middle Eastern	0.00151	0.00150
South Asian	0.00221	0.00213
Other	0.00119	0.00116

dbNSFP

Source: dbNSFP

Function: FUNCTION: Key structural component of the deuterosome, a structure that promotes de novo centriole amplification in multiciliated cells. Deuterosome-mediated centriole amplification occurs in terminally differentiated multiciliated cells and can generate more than 100 centrioles. Probably sufficient for the specification and formation of the deuterosome inner core. Interacts with CEP152 and recruits PLK4 to activate centriole biogenesis (By similarity). {ECO:0000250}.;

Recessive Scores

pRec: 0.0823

Intolerance Scores

loftool
rvis_EVS: 1.38
rvis_percentile_EVS: 94.57

Haploinsufficiency Scores

pHI: 0.0881
hipred: N
hipred_score: 0.123
ghis

Mouse Genome Informatics

Gene name: Deup1
Phenotype

Gene ontology

Biological process: centriole replication;cell projection organization;de novo centriole assembly involved in multi-ciliated epithelial cell differentiation;multi-ciliated epithelial cell differentiation
Cellular component: centriole;deuterosome
Molecular function: protein binding;identical protein binding