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.

not_specified (85 variants)
not_provided (8 variants)
Abnormality_of_neuronal_migration (1 variants)

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. These statistics are base on transcript: NM_000003796.3. 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.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous				8 clinvar	1 clinvar	9
missense			81 clinvar	2 clinvar	1 clinvar	84
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	81	10	2

Loading clinvar variants...

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

loftool
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
Phenotype

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