PNRC1

proline rich nuclear receptor coactivator 1

Basic information

Region (hg38): 6:89080751-89085160

Previous symbols: [ "PROL2" ]

Links

ENSG00000146278 ∙ NCBI:10957 ∙ OMIM:606714 ∙ HGNC:17278 ∙ Uniprot:Q12796 ∙ 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 PNRC1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PNRC1 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			38			38
nonsense						0
start loss			1			1
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	39	0	0

Variants in PNRC1

This is a list of pathogenic ClinVar variants found in the PNRC1 region.

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

Position	Type	Phenotype	Significance	ClinVar
6-89080905-T-C		not specified	Uncertain significance (Apr 15, 2024)
6-89080918-G-C		not specified	Uncertain significance (Jan 29, 2024)
6-89080931-G-C		not specified	Uncertain significance (Nov 17, 2022)
6-89080932-T-A		not specified	Uncertain significance (Nov 03, 2022)
6-89080956-T-C		not specified	Uncertain significance (Sep 08, 2024)
6-89080971-G-A		not specified	Uncertain significance (Aug 28, 2024)
6-89080997-G-A		not specified	Uncertain significance (May 09, 2022)
6-89081006-G-A		not specified	Uncertain significance (May 29, 2024)
6-89081018-T-A		not specified	Uncertain significance (Aug 04, 2024)
6-89081055-C-G		not specified	Uncertain significance (Mar 26, 2024)
6-89081062-C-A		not specified	Uncertain significance (Sep 03, 2024)
6-89081102-C-G		not specified	Uncertain significance (May 23, 2023)
6-89081103-C-G		not specified	Uncertain significance (Mar 02, 2023)
6-89081107-G-T		not specified	Uncertain significance (Nov 07, 2023)
6-89081160-C-A		not specified	Uncertain significance (Jun 23, 2023)
6-89081162-C-T		not specified	Uncertain significance (Dec 14, 2023)
6-89081180-A-C		not specified	Uncertain significance (Dec 07, 2021)
6-89081181-A-G		not specified	Uncertain significance (Dec 07, 2021)
6-89081201-C-T		not specified	Uncertain significance (Nov 21, 2022)
6-89081207-A-G		not specified	Uncertain significance (May 29, 2024)
6-89081214-C-G		not specified	Uncertain significance (Jan 31, 2023)
6-89081217-G-A		not specified	Uncertain significance (Sep 08, 2024)
6-89081222-C-A		not specified	Uncertain significance (Nov 14, 2024)
6-89081264-C-G		not specified	Uncertain significance (Dec 13, 2021)
6-89081265-T-C		not specified	Uncertain significance (Aug 21, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
PNRC1	protein_coding	protein_coding	ENST00000336032	2	4410

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.908	0.0911	125732	0	3	125735	0.0000119

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.734	136	162	0.838	0.00000741	2053
Missense in Polyphen		41	55.302	0.74138		697
Synonymous	-0.508	76	70.6	1.08	0.00000341	707
Loss of Function	2.57	0	7.70	0.00	3.28e-7	109

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.0000992	0.0000992
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000177	0.0000176
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Nuclear receptor coactivator. May play a role in signal transduction. {ECO:0000269|PubMed:10894149}.
• Pathway: AndrogenReceptor (Consensus)

Recessive Scores

• pRec: 0.155

Haploinsufficiency Scores

• pHI: 0.264
• hipred: Y
• hipred_score: 0.527
• ghis: 0.432

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.592

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Pnrc1

Gene ontology

• Cellular component: nucleus
• Molecular function: protein binding