DAD1

defender against cell death 1, the group of Oligosaccharyltransferase complex subunits

Basic information

Region (hg38): 14:22564907-22589224

Links

ENSG00000129562NCBI:1603OMIM:600243HGNC:2664Uniprot:P61803AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the DAD1 gene.

  • not_specified (12 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DAD1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000001344.4. 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
12
clinvar
12
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 12 0 0
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
DAD1protein_codingprotein_codingENST00000250498 224371
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.08550.772125741061257470.0000239
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.6784762.00.7580.00000283723
Missense in Polyphen1622.650.70641268
Synonymous1.032229.00.7580.00000139246
Loss of Function1.0924.490.4462.75e-743

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.00005780.0000578
Ashkenazi Jewish0.00009930.0000992
East Asian0.000.00
Finnish0.000.00
European (Non-Finnish)0.00001760.0000176
Middle Eastern0.000.00
South Asian0.00003270.0000327
Other0.000.00

dbNSFP

Source: dbNSFP

Function
FUNCTION: Essential subunit of the N-oligosaccharyl transferase (OST) complex which catalyzes the transfer of a high mannose oligosaccharide from a lipid-linked oligosaccharide donor to an asparagine residue within an Asn-X-Ser/Thr consensus motif in nascent polypeptide chains. Required for the assembly of both SST3A- and SS3B-containing OST complexes. Required for efficient N-glycosylation. Loss of the DAD1 protein triggers apoptosis. {ECO:0000269|PubMed:22467853, ECO:0000305}.;
Pathway
Protein processing in endoplasmic reticulum - Homo sapiens (human);N-Glycan biosynthesis - Homo sapiens (human);Post-translational protein modification;Metabolism of proteins;Asparagine N-linked glycosylation;N-Glycan biosynthesis (Consensus)

Recessive Scores

pRec
0.156

Intolerance Scores

loftool
0.487
rvis_EVS
-0.1
rvis_percentile_EVS
46.2

Haploinsufficiency Scores

pHI
0.250
hipred
Y
hipred_score
0.804
ghis
0.632

Essentials

essential_gene_CRISPR
E
essential_gene_CRISPR2
E
essential_gene_gene_trap
E
gene_indispensability_pred
E
gene_indispensability_score
0.981

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumLowLow
Primary ImmunodeficiencyMediumLowMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Dad1
Phenotype
homeostasis/metabolism phenotype; cellular phenotype; endocrine/exocrine gland phenotype; growth/size/body region phenotype; embryo phenotype; immune system phenotype; limbs/digits/tail phenotype; hematopoietic system phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span);

Gene ontology

Biological process
blastocyst development;protein glycosylation;protein N-linked glycosylation;apoptotic process;response to nutrient;protein N-linked glycosylation via asparagine;response to drug;negative regulation of apoptotic process
Cellular component
endoplasmic reticulum membrane;oligosaccharyltransferase complex;membrane;integral component of membrane
Molecular function
oligosaccharyl transferase activity;dolichyl-diphosphooligosaccharide-protein glycotransferase activity