CDKN2AIP

CDKN2A interacting protein

Basic information

Region (hg38): 4:183444635-183449064

Links

ENSG00000168564 ∙ NCBI:55602 ∙ OMIM:615914 ∙ HGNC:24325 ∙ Uniprot:Q9NXV6 ∙ 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 CDKN2AIP gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CDKN2AIP 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				1		1
missense			35			35
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	35	1	0

Variants in CDKN2AIP

This is a list of pathogenic ClinVar variants found in the CDKN2AIP region.

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

Position	Type	Phenotype	Significance	ClinVar
4-183444937-C-T		not specified	Uncertain significance (Dec 20, 2023)
4-183444967-C-G		not specified	Uncertain significance (Aug 30, 2021)
4-183444970-A-G		not specified	Uncertain significance (Mar 01, 2023)
4-183444981-G-A		not specified	Uncertain significance (May 24, 2024)
4-183445061-C-T			Likely benign (Jun 01, 2022)
4-183445554-G-C		not specified	Uncertain significance (Dec 17, 2023)
4-183445563-C-T		not specified	Uncertain significance (Apr 09, 2024)
4-183445591-C-T		not specified	Uncertain significance (Dec 09, 2023)
4-183445609-C-T		not specified	Uncertain significance (Oct 27, 2022)
4-183446122-A-G		not specified	Uncertain significance (Nov 17, 2022)
4-183446139-C-T		not specified	Uncertain significance (Dec 20, 2023)
4-183446171-G-A		not specified	Uncertain significance (Oct 03, 2022)
4-183446210-T-C		not specified	Uncertain significance (Dec 06, 2022)
4-183446250-A-T		not specified	Uncertain significance (Jun 28, 2022)
4-183446272-C-G		not specified	Uncertain significance (Jul 14, 2021)
4-183446307-G-T		not specified	Uncertain significance (Jan 07, 2022)
4-183446316-C-T		not specified	Uncertain significance (Jun 23, 2023)
4-183446466-A-T		not specified	Uncertain significance (Nov 09, 2023)
4-183446468-T-A		not specified	Uncertain significance (Apr 18, 2023)
4-183446525-G-C		not specified	Uncertain significance (Nov 18, 2022)
4-183446533-A-T		not specified	Uncertain significance (Jan 22, 2024)
4-183446588-G-C		not specified	Uncertain significance (Nov 13, 2023)
4-183446598-T-G		Malignant tumor of prostate	Uncertain significance (-)
4-183446627-G-T		not specified	Uncertain significance (Mar 01, 2023)
4-183446645-T-C		not specified	Uncertain significance (Oct 20, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CDKN2AIP	protein_coding	protein_coding	ENST00000504169	3	3608

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.964	0.0361	125739	0	9	125748	0.0000358

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.539	271	297	0.912	0.0000141	3706
Missense in Polyphen		16	36.747	0.43541		507
Synonymous	0.0566	121	122	0.993	0.00000614	1200
Loss of Function	3.63	2	19.1	0.104	9.56e-7	258

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.000109	0.000109
Finnish	0.00	0.00
European (Non-Finnish)	0.0000368	0.0000352
Middle Eastern	0.000109	0.000109
South Asian	0.0000328	0.0000327
Other	0.000329	0.000326

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Regulates DNA damage response in a dose-dependent manner through a number of signaling pathways involved in cell proliferation, apoptosis and senescence. {ECO:0000269|PubMed:15109303, ECO:0000269|PubMed:24825908}.

Recessive Scores

• pRec: 0.0986

Intolerance Scores

• loftool: 0.0138
• rvis_EVS: -0.49
• rvis_percentile_EVS: 22.51

Haploinsufficiency Scores

• pHI: 0.667
• hipred: Y
• hipred_score: 0.704
• ghis: 0.578

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: H
• gene_indispensability_pred: N
• gene_indispensability_score: 0.166

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Cdkn2aip

Zebrafish Information Network

• Gene name: cdkn2aip
• Affected structure: definitive hemopoiesis
• Phenotype tag: abnormal
• Phenotype quality: decreased occurrence

Gene ontology

• Biological process: cellular response to DNA damage stimulus;positive regulation of signal transduction;positive regulation of cell growth;negative regulation of cell growth;regulation of protein stability
• Cellular component: granular component;nucleoplasm;nucleolus
• Molecular function: p53 binding;RNA binding;protein binding