POLDIP2

DNA polymerase delta interacting protein 2

Basic information

Region (hg38): 17:28346633-28357527

Links

ENSG00000004142NCBI:26073OMIM:611519HGNC:23781Uniprot:Q9Y2S7AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the POLDIP2 gene.

  • not_provided (7 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the POLDIP2 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000015584.5. 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
5
missense
0
nonsense
0
start loss
0
frameshift
1
clinvar
1
splice donor/acceptor (+/-2bp)
0
Total 0 0 0 0 6
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
POLDIP2protein_codingprotein_codingENST00000540200 1210887
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.4140.5861246260151246410.0000602
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense1.941292080.6210.00001172329
Missense in Polyphen2664.9350.4004707
Synonymous0.5127176.70.9260.00000396716
Loss of Function3.44522.70.2210.00000121239

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0003310.000330
Ashkenazi Jewish0.000.00
East Asian0.00005620.0000556
Finnish0.00004650.0000464
European (Non-Finnish)0.00001790.0000177
Middle Eastern0.00005620.0000556
South Asian0.00003270.0000327
Other0.000.00

dbNSFP

Source: dbNSFP

Recessive Scores

pRec
0.124

Haploinsufficiency Scores

pHI
0.187
hipred
Y
hipred_score
0.639
ghis

Essentials

essential_gene_CRISPR
essential_gene_CRISPR2
essential_gene_gene_trap
gene_indispensability_pred
E
gene_indispensability_score
0.970

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Poldip2
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); growth/size/body region phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); muscle phenotype; homeostasis/metabolism phenotype;

Gene ontology

Biological process
negative regulation of macroautophagy;positive regulation of mitotic cell cycle;mitochondrion morphogenesis
Cellular component
nucleus;mitochondrion;mitochondrial nucleoid
Molecular function
DNA binding;protein binding