CRCP

CGRP receptor component, the group of RNA polymerase subunits

Basic information

Region (hg38): 7:66114604-66154568

Links

ENSG00000241258

∙ NCBI:27297 ∙ OMIM:606121 ∙ HGNC:17888 ∙ Uniprot:O75575 ∙ 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 CRCP gene.

not_specified (18 variants)
not_provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CRCP gene is commonly pathogenic or not. These statistics are base on transcript: NM_000014478.5. 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						0
missense			18 clinvar			18
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	18	0	0

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CRCP	protein_coding	protein_coding	ENST00000395326	6	39965

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
8.97e-7	0.182	125714	0	33	125747	0.000131

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.394	72	82.0	0.878	0.00000451	980
Missense in Polyphen		16	22.266	0.71859		238
Synonymous	-0.173	32	30.8	1.04	0.00000179	258
Loss of Function	-0.137	9	8.57	1.05	3.59e-7	110

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000120	0.000120
Ashkenazi Jewish	0.00	0.00
East Asian	0.000493	0.000489
Finnish	0.00	0.00
European (Non-Finnish)	0.0000812	0.0000791
Middle Eastern	0.000493	0.000489
South Asian	0.000394	0.000392
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Function: FUNCTION: DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Specific peripheric component of RNA polymerase III which synthesizes small RNAs, such as 5S rRNA and tRNAs. Plays a key role in sensing and limiting infection by intracellular bacteria and DNA viruses. Acts as nuclear and cytosolic DNA sensor involved in innate immune response. Can sense non-self dsDNA that serves as template for transcription into dsRNA. The non-self RNA polymerase III transcripts induce type I interferon and NF- Kappa- B through the RIG-I pathway (By similarity). {ECO:0000250}.;
Pathway: Myometrial Relaxation and Contraction Pathways;Gene expression (Transcription);RNA Polymerase III Transcription Termination;RNA Polymerase III Chain Elongation;RNA Polymerase III Abortive And Retractive Initiation;RNA Polymerase III Transcription Initiation From Type 1 Promoter;RNA Polymerase III Transcription Initiation From Type 2 Promoter;RNA Polymerase III Transcription Initiation From Type 3 Promoter;RNA Polymerase III Transcription Initiation;RNA Polymerase III Transcription (Consensus)

Recessive Scores

pRec: 0.112

Intolerance Scores

loftool: 0.202
rvis_EVS: 0.33
rvis_percentile_EVS: 73.11

Haploinsufficiency Scores

pHI
hipred: N
hipred_score: 0.462
ghis

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: E
essential_gene_gene_trap: E
gene_indispensability_pred: E
gene_indispensability_score: 0.503

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Crcp
Phenotype

Zebrafish Information Network

Gene name: crcp
Affected structure: thymus
Phenotype tag: abnormal
Phenotype quality: absent

Gene ontology

Biological process: transcription by RNA polymerase III;transcription initiation from RNA polymerase III promoter;neuropeptide signaling pathway;innate immune response;defense response to virus
Cellular component: acrosomal vesicle;nucleoplasm;RNA polymerase III complex;cytosol;plasma membrane;DNA polymerase III complex
Molecular function: nucleotide binding;RNA polymerase III activity;calcitonin gene-related peptide receptor activity;DNA-directed 5'-3' RNA polymerase activity;protein binding