CIPC

CLOCK interacting pacemaker

Basic information

Region (hg38): 14:77098125-77117287

Previous symbols: [ "KIAA1737" ]

Links

ENSG00000198894 ∙ NCBI:85457 ∙ OMIM:616995 ∙ HGNC:20365 ∙ Uniprot:Q9C0C6 ∙ 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 CIPC gene.

• Inborn genetic diseases (15 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CIPC 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			15			15
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	15	0	0

Variants in CIPC

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

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

Position	Type	Phenotype	Significance	ClinVar
14-77105725-C-G		not specified	Uncertain significance (Feb 06, 2024)
14-77105832-T-A		not specified	Uncertain significance (Jan 16, 2024)
14-77109856-G-A		not specified	Uncertain significance (Oct 12, 2021)
14-77109860-A-G		not specified	Uncertain significance (Sep 22, 2023)
14-77109977-A-G		not specified	Uncertain significance (Jun 28, 2022)
14-77113444-T-G		not specified	Uncertain significance (Dec 15, 2023)
14-77113633-T-C		not specified	Uncertain significance (Sep 08, 2023)
14-77113633-T-G		not specified	Uncertain significance (May 23, 2023)
14-77113675-A-G		not specified	Uncertain significance (Apr 06, 2023)
14-77113709-G-T		not specified	Uncertain significance (Nov 08, 2022)
14-77113806-G-A		not specified	Uncertain significance (Oct 25, 2023)
14-77113858-C-G		not specified	Uncertain significance (Nov 09, 2023)
14-77113965-T-A		not specified	Uncertain significance (Jun 09, 2022)
14-77113992-C-G		not specified	Uncertain significance (Aug 16, 2022)
14-77114020-G-A		not specified	Uncertain significance (Nov 06, 2023)
14-77114046-C-T		not specified	Uncertain significance (Jan 09, 2023)
14-77114059-A-G		not specified	Uncertain significance (Jul 13, 2022)
14-77114082-G-C		not specified	Uncertain significance (Oct 04, 2023)
14-77114092-A-G		not specified	Uncertain significance (Sep 29, 2022)
14-77114235-G-T		not specified	Uncertain significance (Apr 06, 2022)
14-77114259-C-G		not specified	Uncertain significance (Jan 26, 2022)
14-77114260-C-G		not specified	Uncertain significance (Nov 15, 2021)
14-77114297-C-G		not specified	Uncertain significance (Dec 02, 2021)
14-77114301-G-A		not specified	Uncertain significance (Apr 06, 2022)
14-77114304-C-G		not specified	Uncertain significance (Jan 04, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CIPC	protein_coding	protein_coding	ENST00000361786	3	19191

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0578	0.926	125732	0	6	125738	0.0000239

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.748	190	221	0.859	0.0000118	2579
Missense in Polyphen		56	78.618	0.71231		940
Synonymous	0.931	79	90.3	0.875	0.00000528	835
Loss of Function	2.10	4	11.8	0.340	4.99e-7	155

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.0000441	0.0000440
Middle Eastern	0.0000544	0.0000544
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Transcriptional repressor which may act as a negative- feedback regulator of CLOCK-ARNTL/BMAL1 transcriptional activity in the circadian-clock mechanism. May stimulate ARNTL/BMAL1- dependent phosphorylation of CLOCK. However, the physiogical relevance of these observations is unsure, since experiments in an animal model showed that CIPC is not critially required for basic circadian clock. {ECO:0000250|UniProtKB:Q8R0W1}.

Intolerance Scores

• rvis_EVS: -0.4
• rvis_percentile_EVS: 26.53

Haploinsufficiency Scores

• pHI: 0.222
• hipred: N
• hipred_score: 0.197
• ghis: 0.540

Essentials

• essential_gene_gene_trap: N

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Cipc

Gene ontology

• Biological process: negative regulation of circadian rhythm;negative regulation of transcription, DNA-templated;rhythmic process
• Cellular component: nucleus;cytosol
• Molecular function: protein binding