PDIA5

protein disulfide isomerase family A member 5, the group of MicroRNA protein coding host genes|Protein disulfide isomerases

Basic information

Region (hg38): 3:123067025-123225227

Links

ENSG00000065485NCBI:10954OMIM:616942HGNC:24811Uniprot:Q14554AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the PDIA5 gene.

  • not_specified (76 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PDIA5 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000006810.4. 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
0
missense
74
clinvar
2
clinvar
76
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 74 2 0
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
PDIA5protein_codingprotein_codingENST00000316218 17158166
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
1.15e-90.9831256760721257480.000286
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.2382832950.9610.00001673428
Missense in Polyphen92101.410.907191201
Synonymous-0.4221271211.050.00000780942
Loss of Function2.322034.70.5760.00000190404

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0009810.000981
Ashkenazi Jewish0.00009930.0000992
East Asian0.00005440.0000544
Finnish0.000.00
European (Non-Finnish)0.0001580.000158
Middle Eastern0.00005440.0000544
South Asian0.0007860.000784
Other0.0001630.000163

dbNSFP

Source: dbNSFP

Pathway
XBP1(S) activates chaperone genes (Consensus)

Recessive Scores

pRec
0.134

Intolerance Scores

loftool
0.790
rvis_EVS
-0.95
rvis_percentile_EVS
9.21

Haploinsufficiency Scores

pHI
0.237
hipred
N
hipred_score
0.492
ghis
0.568

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.580

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Pdia5
Phenotype

Zebrafish Information Network

Gene name
pdia5
Affected structure
thrombocyte
Phenotype tag
abnormal
Phenotype quality
decreased amount

Gene ontology

Biological process
protein folding;IRE1-mediated unfolded protein response;cell redox homeostasis;oxidation-reduction process
Cellular component
endoplasmic reticulum lumen;endoplasmic reticulum membrane
Molecular function
protein disulfide isomerase activity;protein binding;peptide disulfide oxidoreductase activity;oxidoreductase activity