CIRBP

cold inducible RNA binding protein, the group of RNA binding motif containing

Basic information

Region (hg38): 19:1259384-1274880

Links

ENSG00000099622

∙ NCBI:1153 ∙ OMIM:602649 ∙ HGNC:1982 ∙ Uniprot:Q14011 ∙ 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 CIRBP gene.

not_specified (19 variants)
not_provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CIRBP gene is commonly pathogenic or not. These statistics are base on transcript: NM_001300829.2. 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					1 clinvar	1
missense			18 clinvar	1 clinvar		19
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	18	1	1

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CIRBP	protein_coding	protein_coding	ENST00000588030	6	15496

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.336	0.661	125592	0	4	125596	0.0000159

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.839	90	115	0.780	0.00000785	1105
Missense in Polyphen		5	26.24	0.19055		313
Synonymous	-1.32	54	43.0	1.26	0.00000284	338
Loss of Function	2.57	3	13.0	0.231	8.96e-7	115

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)	0.0000374	0.0000352
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Function: FUNCTION: Cold-inducible mRNA binding protein that plays a protective role in the genotoxic stress response by stabilizing transcripts of genes involved in cell survival. Acts as a translational activator. Seems to play an essential role in cold- induced suppression of cell proliferation. Binds specifically to the 3'-untranslated regions (3'-UTRs) of stress-responsive transcripts RPA2 and TXN. Acts as a translational repressor (By similarity). Promotes assembly of stress granules (SGs), when overexpressed. {ECO:0000250, ECO:0000269|PubMed:11574538, ECO:0000269|PubMed:16513844}.;

Recessive Scores

pRec: 0.120

Intolerance Scores

loftool: 0.378
rvis_EVS: -0.16
rvis_percentile_EVS: 41.25

Haploinsufficiency Scores

pHI: 0.138
hipred: Y
hipred_score: 0.833
ghis: 0.596

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: E
gene_indispensability_score: 0.993

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Cirbp
Phenotype: cellular phenotype; reproductive system phenotype;

Gene ontology

Biological process: response to cold;response to UV;negative regulation of translation;stress granule assembly;positive regulation of translation;positive regulation of mRNA splicing, via spliceosome;mRNA stabilization
Cellular component: nucleus;nucleoplasm;spliceosomal complex;nucleolus;cytoplasm;cytoplasmic stress granule;ribonucleoprotein complex
Molecular function: RNA binding;mRNA 3'-UTR binding;protein binding;poly(U) RNA binding;translation repressor activity;small ribosomal subunit rRNA binding