VWA8

von Willebrand factor A domain containing 8, the group of MicroRNA protein coding host genes

Basic information

Region (hg38): 13:41566835-41961120

Previous symbols: [ "KIAA0564" ]

Links

ENSG00000102763NCBI:23078OMIM:617509HGNC:29071Uniprot:A3KMH1AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

  • retinitis pigmentosa 97 (Limited), mode of inheritance: Unknown
  • retinitis pigmentosa 97 (Limited), mode of inheritance: AD

Clinical Genomic Database

Source: CGD

ConditionInheritanceIntervention CategoriesIntervention/Rationale Manifestation CategoriesReferences
Retinitis pigmentosa 97ADGeneralGenetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testingOphthalmologic37012052

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the VWA8 gene.

  • not_specified (140 variants)
  • not_provided (23 variants)
  • Nonsyndromic_cleft_lip_palate (5 variants)
  • Autosomal_recessive_early-onset_Parkinson_disease_23 (1 variants)
  • Developmental_delay (1 variants)
  • Retinitis_pigmentosa_97 (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the VWA8 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000015058.2. 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.

EffectPLPVUSLBBSum
synonymous
5
clinvar
3
clinvar
8
missense
1
clinvar
146
clinvar
5
clinvar
3
clinvar
155
nonsense
1
clinvar
1
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 2 146 10 6

Highest pathogenic variant AF is 0.000013633147

Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
VWA8protein_codingprotein_codingENST00000379310 45394284
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
8.41e-701.15e-1012505406941257480.00276
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense-0.20610281.01e+31.020.000053512390
Missense in Polyphen374367.341.01814275
Synonymous-0.2893723651.020.00001973718
Loss of Function0.2021071090.9790.000006161270

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.006970.00690
Ashkenazi Jewish0.003300.00328
East Asian0.001900.00185
Finnish0.0005110.000508
European (Non-Finnish)0.002610.00257
Middle Eastern0.001900.00185
South Asian0.004590.00458
Other0.001480.00147

dbNSFP

Source: dbNSFP

Function
FUNCTION: Exhibits ATPase activity in vitro. {ECO:0000250|UniProtKB:Q8CC88}.;

Recessive Scores

pRec
0.104

Intolerance Scores

loftool
rvis_EVS
-0.88
rvis_percentile_EVS
10.51

Haploinsufficiency Scores

pHI
0.160
hipred
N
hipred_score
0.284
ghis
0.524

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
gene_indispensability_score

Gene Damage Prediction

AllRecessiveDominant
MendelianHighMediumHigh
Primary ImmunodeficiencyHighHighHigh
CancerHighHighHigh

Mouse Genome Informatics

Gene name
Vwa8
Phenotype
immune system phenotype; hematopoietic system phenotype; homeostasis/metabolism phenotype;

Gene ontology

Biological process
Cellular component
mitochondrion
Molecular function
protein binding;ATP binding;ATPase activity