CINP

cyclin dependent kinase 2 interacting protein

Basic information

Region (hg38): 14:102341101-102362916

Links

ENSG00000100865 ∙ NCBI:51550 ∙ OMIM:613362 ∙ HGNC:23789 ∙ Uniprot:Q9BW66 ∙ 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 CINP gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CINP 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					1	1
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	0	0	1

Variants in CINP

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

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

Position	Type	Phenotype	Significance	ClinVar
14-102341358-C-T		not specified	Uncertain significance (Nov 15, 2021)
14-102341367-G-A		not specified	Uncertain significance (Jun 24, 2022)
14-102341380-C-T		not specified	Likely benign (Mar 15, 2024)
14-102341403-A-G		not specified	Uncertain significance (Dec 03, 2021)
14-102341416-C-T		not specified	Uncertain significance (Jun 03, 2022)
14-102341488-G-A		not specified	Likely benign (Feb 15, 2023)
14-102341551-A-G		not specified	Uncertain significance (Dec 20, 2023)
14-102341607-T-G		not specified	Likely benign (Sep 27, 2021)
14-102341617-T-C		not specified	Uncertain significance (Jul 19, 2022)
14-102341631-T-G		not specified	Uncertain significance (Dec 19, 2022)
14-102341709-C-T		not specified	Uncertain significance (Mar 28, 2024)
14-102341712-G-A		not specified	Likely benign (Sep 14, 2023)
14-102341722-G-C		not specified	Uncertain significance (Dec 28, 2023)
14-102341748-C-T		not specified	Likely benign (May 26, 2022)
14-102341751-A-G		not specified	Uncertain significance (Jun 02, 2024)
14-102341763-G-A		not specified	Uncertain significance (Jul 07, 2022)
14-102341817-A-G		not specified	Uncertain significance (Sep 23, 2023)
14-102341877-C-T		not specified	Uncertain significance (Jul 14, 2022)
14-102341929-A-G		not specified	Uncertain significance (Jun 16, 2024)
14-102341953-T-C		not specified	Uncertain significance (Nov 19, 2022)
14-102341981-C-T			Likely benign (Mar 01, 2022)
14-102342027-A-T		not specified	Likely benign (Dec 28, 2022)
14-102342042-T-A		not specified	Uncertain significance (Jul 20, 2021)
14-102342054-A-G		not specified	Likely benign (Mar 30, 2024)
14-102342175-G-A		not specified	Likely benign (Apr 12, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CINP	protein_coding	protein_coding	ENST00000536961	5	20298

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0571	0.927	125741	0	7	125748	0.0000278

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.513	108	124	0.870	0.00000627	1482
Missense in Polyphen		36	42.933	0.83852		556
Synonymous	0.606	48	53.6	0.895	0.00000320	421
Loss of Function	2.09	4	11.7	0.341	5.97e-7	142

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000290	0.0000290
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000353	0.0000352
Middle Eastern	0.00	0.00
South Asian	0.0000662	0.0000653
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Interacts with the components of the replication complex and 2 kinases, CDK2 and CDC7, thereby providing a functional and physical link between CDK2 and CDC7 during firing of the origins of replication. Regulates ATR-mediated checkpoint signaling. {ECO:0000269|PubMed:16082200, ECO:0000269|PubMed:19889979}.
• Pathway: De novo fatty acid biosynthesis (Consensus)

Intolerance Scores

• loftool: 0.344
• rvis_EVS: 0.46
• rvis_percentile_EVS: 78.46

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.266
• ghis: 0.457

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: E
• essential_gene_gene_trap: E
• 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: Cinp
• Phenotype: homeostasis/metabolism phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span)

Gene ontology

• Biological process: DNA replication;DNA repair;cell cycle;cell division
• Cellular component: nucleus
• Molecular function: protein binding