PURG

purine rich element binding protein G

Basic information

Region (hg38): 8:30995801-31033715

Links

ENSG00000172733 ∙ NCBI:29942 ∙ OMIM:618041 ∙ HGNC:17930 ∙ Uniprot:Q9UJV8 ∙ 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 PURG gene.

• Inborn genetic diseases (13 variants)
• Werner syndrome (11 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PURG 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						0
missense			12	1		13
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			8	1	2	11
Total	0	0	20	2	2

Variants in PURG

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

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

Position	Type	Phenotype	Significance	ClinVar
8-31031771-C-A		not specified	Uncertain significance (Sep 28, 2022)
8-31031773-T-C		not specified	Likely benign (Apr 07, 2023)
8-31031857-C-T		not specified	Uncertain significance (Apr 24, 2023)
8-31031956-A-T		not specified	Uncertain significance (Mar 23, 2022)
8-31031965-C-T		not specified	Uncertain significance (Nov 29, 2023)
8-31032010-G-A		not specified	Uncertain significance (Oct 03, 2023)
8-31032025-C-A		not specified	Uncertain significance (Sep 12, 2023)
8-31032031-C-T		not specified	Uncertain significance (Jul 26, 2022)
8-31032172-C-T		not specified	Uncertain significance (Aug 01, 2022)
8-31032179-T-C		not specified	Uncertain significance (Oct 16, 2023)
8-31032445-G-A		not specified	Uncertain significance (Aug 01, 2022)
8-31032674-A-G		not specified	Uncertain significance (Apr 07, 2023)
8-31032715-G-C		not specified	Uncertain significance (Oct 12, 2021)
8-31032746-G-C		not specified	Uncertain significance (Apr 07, 2023)
8-31032761-C-T		not specified	Uncertain significance (Jul 14, 2021)
8-31032766-C-T		not specified	Uncertain significance (Mar 22, 2023)
8-31033351-G-C		Werner syndrome	Uncertain significance (Jan 13, 2018)
8-31033367-G-T		Werner syndrome	Uncertain significance (Jan 12, 2018)
8-31033373-G-T		Werner syndrome	Uncertain significance (Jan 13, 2018)
8-31033414-G-C		Werner syndrome	Uncertain significance (Jan 13, 2018)
8-31033419-G-C		Werner syndrome	Likely benign (Jan 13, 2018)
8-31033432-C-G		Werner syndrome	Benign (Jan 13, 2018)
8-31033445-C-A		Werner syndrome	Uncertain significance (Jan 12, 2018)
8-31033531-C-A		Werner syndrome	Uncertain significance (Jan 13, 2018)
8-31033613-C-T		Werner syndrome	Uncertain significance (Jan 13, 2018)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
PURG	protein_coding	protein_coding	ENST00000475541	1	37911

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.961	0.0389	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.55	129	189	0.683	0.0000103	2263
Missense in Polyphen		50	90.054	0.55522		1026
Synonymous	0.153	73	74.7	0.978	0.00000399	686
Loss of Function	2.95	0	10.1	0.00	5.37e-7	125

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

• loftool: 0.145
• rvis_EVS: -0.12
• rvis_percentile_EVS: 44.89

Haploinsufficiency Scores

• pHI: 0.266
• hipred: Y
• hipred_score: 0.767
• ghis: 0.586

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0693

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Purg

Gene ontology

• Biological process: negative regulation of transcription by RNA polymerase II
• Cellular component: nucleus
• Molecular function: RNA polymerase II regulatory region sequence-specific DNA binding;DNA-binding transcription factor activity, RNA polymerase II-specific;DNA-binding transcription repressor activity, RNA polymerase II-specific;double-stranded DNA binding;RNA binding;purine-rich negative regulatory element binding;sequence-specific DNA binding