VWDE

von Willebrand factor D and EGF domains

Basic information

Region (hg38): 7:12330884-12403941

Links

ENSG00000146530 ∙ NCBI:221806 ∙ ∙ HGNC:21897 ∙ Uniprot:Q8N2E2 ∙ 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 VWDE gene.

• Inborn genetic diseases (75 variants)
• Preeclampsia (1 variants)
• not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the VWDE 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		1
missense			71	4		75
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	71	5	0

Variants in VWDE

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

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

Position	Type	Phenotype	Significance	ClinVar
7-12333478-T-C		not specified	Uncertain significance (Nov 08, 2021)
7-12333513-A-C		not specified	Uncertain significance (Dec 06, 2021)
7-12333539-C-G		not specified	Uncertain significance (Jul 09, 2021)
7-12336152-C-A		not specified	Uncertain significance (Mar 21, 2023)
7-12337012-A-G		not specified	Uncertain significance (Sep 29, 2022)
7-12337017-G-C		not specified	Uncertain significance (Dec 17, 2023)
7-12337200-T-A		not specified	Uncertain significance (Oct 05, 2021)
7-12337210-G-A		not specified	Uncertain significance (May 02, 2023)
7-12337224-T-G		not specified	Uncertain significance (Dec 15, 2022)
7-12337236-C-T		not specified	Uncertain significance (Jul 09, 2021)
7-12340344-G-T		not specified	Uncertain significance (Feb 06, 2024)
7-12340408-T-C		not specified	Uncertain significance (Jun 11, 2021)
7-12342136-C-G		not specified	Uncertain significance (Jul 09, 2021)
7-12344229-A-G			Likely benign (Apr 01, 2022)
7-12344236-C-T		not specified	Uncertain significance (Mar 08, 2024)
7-12344263-T-C		not specified	Uncertain significance (May 27, 2022)
7-12344443-T-G		not specified	Uncertain significance (May 04, 2022)
7-12351649-A-C		not specified	Uncertain significance (Jun 22, 2023)
7-12356133-A-C		not specified	Uncertain significance (Sep 15, 2021)
7-12356162-A-C		not specified	Uncertain significance (Jul 19, 2022)
7-12356188-T-G		not specified	Uncertain significance (Dec 27, 2023)
7-12356200-A-C		not specified	Uncertain significance (Dec 21, 2023)
7-12356204-C-T		not specified	Likely benign (May 03, 2023)
7-12356207-C-A		not specified	Uncertain significance (Mar 07, 2024)
7-12356249-G-T		not specified	Uncertain significance (Jun 24, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
VWDE	protein_coding	protein_coding	ENST00000275358	29	73057

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.33e-40	0.0000203	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.156	791	779	1.02	0.0000382	10462
Missense in Polyphen		209	232.4	0.89931		3176
Synonymous	0.515	268	279	0.961	0.0000142	2897
Loss of Function	0.718	65	71.6	0.908	0.00000352	999

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Intolerance Scores

• rvis_EVS: 7.75
• rvis_percentile_EVS: 99.94

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0103

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	High	High	High
Primary Immunodeficiency	High	High	High
Cancer	High	High	High

Mouse Genome Informatics

• Gene name: Vwde

Gene ontology

• Biological process: anatomical structure development
• Cellular component: extracellular region;cell surface
• Molecular function: signaling receptor binding