DMWD

DM1 locus, WD repeat containing, the group of WD repeat domain containing

Basic information

Region (hg38): 19:45782947-45792845

Links

ENSG00000185800 ∙ NCBI:1762 ∙ OMIM:609857 ∙ HGNC:2936 ∙ Uniprot:Q09019 ∙ 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 DMWD gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DMWD 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				1	9	10
missense			47		2	49
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	47	1	11

Variants in DMWD

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

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

Position	Type	Phenotype	Significance	ClinVar
19-45784676-T-C		not specified	Uncertain significance (Dec 17, 2021)
19-45784696-T-C		not specified	Uncertain significance (Oct 20, 2021)
19-45784700-T-A		not specified	Uncertain significance (Jan 18, 2023)
19-45784706-C-T		not specified	Uncertain significance (Jun 10, 2024)
19-45784712-T-C		not specified	Uncertain significance (Sep 07, 2022)
19-45785623-T-C		not specified	Uncertain significance (Dec 21, 2023)
19-45785680-G-A		not specified	Uncertain significance (Jun 27, 2022)
19-45785742-G-A		not specified	Uncertain significance (Jul 14, 2021)
19-45785749-G-C		not specified	Uncertain significance (Mar 31, 2024)
19-45785751-G-A		DMWD-related disorder	Benign (Nov 05, 2019)
19-45785787-C-T		not specified	Uncertain significance (Nov 13, 2024)
19-45785800-C-T		not specified	Uncertain significance (Sep 26, 2024)
19-45785819-A-G		DMWD-related disorder	Benign (Nov 20, 2019)
19-45785871-C-T		not specified	Uncertain significance (Jun 07, 2024)
19-45785872-G-A		not specified	Uncertain significance (Dec 22, 2023)
19-45785876-G-A			Likely benign (Dec 01, 2022)
19-45785901-C-T		not specified	Uncertain significance (Jul 16, 2024)
19-45785904-C-T		not specified	Uncertain significance (Dec 02, 2022)
19-45785915-T-C		DMWD-related disorder	Benign (Nov 27, 2019)
19-45785931-C-T		not specified	Uncertain significance (May 04, 2023)
19-45785950-T-C		not specified	Uncertain significance (Nov 10, 2024)
19-45785977-C-G		not specified	Uncertain significance (Jun 18, 2024)
19-45786076-T-A		not specified	Uncertain significance (Dec 09, 2023)
19-45786079-C-T		not specified	Uncertain significance (May 23, 2023)
19-45786080-G-A		DMWD-related disorder	Benign (Dec 05, 2019)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DMWD	protein_coding	protein_coding	ENST00000270223	5	9856

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.369	0.630	125725	0	7	125732	0.0000278

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.41	242	373	0.649	0.0000247	4207
Missense in Polyphen		47	98.355	0.47786		941
Synonymous	-2.40	217	176	1.23	0.0000130	1502
Loss of Function	3.03	4	17.8	0.225	8.22e-7	221

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000547	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.0000375	0.0000352
Middle Eastern	0.0000547	0.0000544
South Asian	0.0000657	0.0000653
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.175

Intolerance Scores

• loftool: 0.207
• rvis_EVS: -0.56
• rvis_percentile_EVS: 19.54

Haploinsufficiency Scores

• pHI: 0.394
• hipred: Y
• hipred_score: 0.604
• ghis: 0.540

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.985

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Dmwd

Gene ontology

• Cellular component: cellular_component;nucleus;dendrite;perikaryon
• Molecular function: molecular_function