CHURC1

churchill domain containing 1

Basic information

Region (hg38): 14:64914360-64944591

Previous symbols: [ "C14orf52" ]

Links

ENSG00000258289 ∙ NCBI:91612 ∙ OMIM:608577 ∙ HGNC:20099 ∙ Uniprot:Q8WUH1 ∙ 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 CHURC1 gene.

• Inborn genetic diseases (5 variants)
• not provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CHURC1 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			5	2		7
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	5	2	0

Variants in CHURC1

This is a list of pathogenic ClinVar variants found in the CHURC1 region.

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

Position	Type	Phenotype	Significance	ClinVar
14-64914442-G-A		not specified	Uncertain significance (Feb 17, 2022)
14-64914449-C-T		not specified	Uncertain significance (Apr 28, 2022)
14-64924011-T-A			Likely benign (Jul 06, 2018)
14-64924121-A-G			Benign/Likely benign (Jan 01, 2023)
14-64932149-G-A		not specified	Uncertain significance (May 25, 2022)
14-64932165-G-A		not specified	Uncertain significance (Jun 24, 2022)
14-64932174-G-A		not specified	Uncertain significance (Apr 26, 2023)
14-64932186-A-G		not specified	Uncertain significance (Jan 04, 2022)
14-64932187-G-C		not specified	Uncertain significance (Feb 21, 2024)
14-64932208-G-A		not specified	Uncertain significance (Apr 12, 2023)
14-64939510-C-A		not specified	Uncertain significance (Sep 22, 2022)
14-64939549-C-T		not specified	Uncertain significance (Jan 30, 2024)
14-64939622-G-A		not specified	Uncertain significance (Jun 29, 2023)
14-64939648-T-C		not specified	Uncertain significance (Mar 16, 2022)
14-64939726-T-A		not specified	Uncertain significance (Nov 21, 2023)
14-64939727-C-T		not specified	Uncertain significance (Sep 20, 2023)
14-64942560-C-T		not specified	Uncertain significance (Sep 01, 2021)
14-64942593-C-T		not specified	Uncertain significance (Jan 17, 2023)
14-64942636-C-T		not specified	Uncertain significance (Mar 04, 2024)
14-64942653-G-A		not specified	Uncertain significance (Jan 19, 2024)
14-64942653-G-T		not specified	Uncertain significance (Dec 12, 2023)
14-64942696-G-A		not specified	Uncertain significance (Feb 06, 2023)
14-64942716-A-G		not specified	Uncertain significance (Aug 04, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CHURC1	protein_coding	protein_coding	ENST00000607599	4	30231

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000209	0.157	125722	0	20	125742	0.0000795

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.190	86	81.2	1.06	0.00000397	927
Missense in Polyphen		31	36.726	0.84409		451
Synonymous	-1.00	37	30.0	1.23	0.00000149	245
Loss of Function	-0.423	8	6.81	1.17	3.80e-7	82

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000278	0.000277
Ashkenazi Jewish	0.00	0.00
East Asian	0.000111	0.000109
Finnish	0.00	0.00
European (Non-Finnish)	0.0000974	0.0000967
Middle Eastern	0.000111	0.000109
South Asian	0.00	0.00
Other	0.000194	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Transcriptional activator that mediates FGF signaling during neural development. Plays a role in the regulation of cell movement (By similarity). Does not bind DNA by itself. {ECO:0000250}.

Recessive Scores

• pRec: 0.124

Intolerance Scores

• loftool: 0.564
• rvis_EVS: 0.5
• rvis_percentile_EVS: 79.89

Haploinsufficiency Scores

• pHI: 0.180
• hipred: N
• hipred_score: 0.197
• ghis: 0.462

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.539

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Churc1

Zebrafish Information Network

• Gene name: churc1
• Affected structure: trunk
• Phenotype tag: abnormal
• Phenotype quality: has fewer parts of type

Gene ontology

• Biological process: multicellular organism development;positive regulation of transcription, DNA-templated
• Molecular function: zinc ion binding