URI1

URI1 prefoldin like chaperone, the group of Prefoldin subunits|Protein phosphatase 1 regulatory subunits

Basic information

Region (hg38): 19:29923644-30016612

Previous symbols: [ "C19orf2" ]

Links

ENSG00000105176 ∙ NCBI:8725 ∙ OMIM:603494 ∙ HGNC:13236 ∙ Uniprot:O94763 ∙ 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 URI1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the URI1 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				6	1	7
missense			27			27
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	27	6	1

Variants in URI1

This is a list of pathogenic ClinVar variants found in the URI1 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-29923724-C-A		Abnormality of neuronal migration	Benign (Oct 31, 2014)
19-29942568-G-C		not specified	Uncertain significance (Nov 29, 2023)
19-29942581-C-T		not specified	Uncertain significance (Oct 13, 2023)
19-29942591-C-T		not specified	Uncertain significance (Sep 22, 2023)
19-29942627-C-G		not specified	Uncertain significance (Feb 06, 2024)
19-29942632-G-A		not specified	Uncertain significance (Dec 07, 2021)
19-29942641-C-T		not specified	Uncertain significance (Dec 04, 2024)
19-29942649-C-G			Benign (Jun 01, 2024)
19-29942661-A-G		not specified	Likely benign (Jun 18, 2024)
19-29985243-A-G		not specified	Uncertain significance (Jun 24, 2022)
19-29986293-C-T			Likely benign (Jul 01, 2023)
19-29986321-G-T		not specified	Uncertain significance (Apr 09, 2024)
19-29986353-G-C			Likely benign (Jul 10, 2018)
19-29986383-G-A			Likely benign (Jul 31, 2018)
19-29986406-A-G		not specified	Uncertain significance (Jun 22, 2024)
19-30005367-G-A		not specified	Uncertain significance (Feb 17, 2023)
19-30005436-T-G		not specified	Uncertain significance (Apr 24, 2024)
19-30005442-A-G		not specified	Uncertain significance (Nov 27, 2023)
19-30005660-G-T		not specified	Uncertain significance (Nov 18, 2022)
19-30005664-T-C		not specified	Uncertain significance (Dec 14, 2023)
19-30005676-G-A		not specified	Uncertain significance (Feb 13, 2023)
19-30007482-T-C		not specified	Uncertain significance (Dec 06, 2024)
19-30007496-C-T		not specified	Uncertain significance (Aug 29, 2024)
19-30007511-A-G		not specified	Uncertain significance (Dec 28, 2023)
19-30007542-A-G		not specified	Uncertain significance (Jul 09, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
URI1	protein_coding	protein_coding	ENST00000542441	11	92061

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000111	0.998	125672	0	76	125748	0.000302

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.131	293	287	1.02	0.0000150	3538
Missense in Polyphen		63	72.117	0.87357		948
Synonymous	-0.608	113	105	1.08	0.00000597	984
Loss of Function	2.67	13	28.4	0.458	0.00000188	316

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000565	0.000555
Ashkenazi Jewish	0.000100	0.0000992
East Asian	0.000392	0.000381
Finnish	0.000331	0.000323
European (Non-Finnish)	0.000358	0.000343
Middle Eastern	0.000392	0.000381
South Asian	0.000277	0.000261
Other	0.000332	0.000326

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Involved in gene transcription regulation. Acts as a transcriptional repressor in concert with the corepressor UXT to regulate androgen receptor (AR) transcription. May act as a tumor suppressor to repress AR-mediated gene transcription and to inhibit anchorage-independent growth in prostate cancer cells. Required for cell survival in ovarian cancer cells. Together with UXT, associates with chromatin to the NKX3-1 promoter region. Antagonizes transcriptional modulation via hepatitis B virus X protein.

Recessive Scores

• pRec: 0.126

Intolerance Scores

• rvis_EVS: -0.51
• rvis_percentile_EVS: 21.41

Haploinsufficiency Scores

• pHI: 0.461
• hipred: Y
• hipred_score: 0.586
• ghis: 0.662

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: E
• essential_gene_gene_trap: E
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Uri1

Gene ontology

• Biological process: negative regulation of transcription by RNA polymerase II;regulation of cell growth;regulation of transcription by RNA polymerase II;response to virus;negative regulation of phosphatase activity;negative regulation of phosphoprotein phosphatase activity;cellular response to growth factor stimulus;cellular response to steroid hormone stimulus;negative regulation of intrinsic apoptotic signaling pathway
• Cellular component: nucleus;nucleoplasm;cytoplasm;mitochondrion;cytosol;dendrite
• Molecular function: RNA polymerase II complex binding;chromatin binding;transcription corepressor activity;protein phosphatase inhibitor activity;protein binding;phosphatase inhibitor activity;phosphoprotein binding