CDKN2AIPNL

CDKN2A interacting protein N-terminal like

Basic information

Region (hg38): 5:134402064-134411881

Links

ENSG00000237190 ∙ NCBI:91368 ∙ ∙ HGNC:30545 ∙ Uniprot:Q96HQ2 ∙ 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 CDKN2AIPNL gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CDKN2AIPNL 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	1		6
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	1	0

Variants in CDKN2AIPNL

This is a list of pathogenic ClinVar variants found in the CDKN2AIPNL region.

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

Position	Type	Phenotype	Significance	ClinVar
5-134409919-C-A		not specified	Uncertain significance (Mar 01, 2024)
5-134411725-T-C		not specified	Uncertain significance (Dec 08, 2023)
5-134411725-T-G		not specified	Uncertain significance (Dec 20, 2023)
5-134411794-C-T		not specified	Likely benign (Jun 22, 2023)
5-134411823-T-C		not specified	Uncertain significance (May 25, 2022)
5-134411827-C-T		not specified	Uncertain significance (Apr 08, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CDKN2AIPNL	protein_coding	protein_coding	ENST00000458198	3	9812

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.342	0.605	125653	0	3	125656	0.0000119

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.264	69	63.1	1.09	0.00000285	758
Missense in Polyphen		12	12.135	0.98885		175
Synonymous	-0.737	31	26.2	1.18	0.00000130	217
Loss of Function	1.51	1	4.44	0.225	1.88e-7	55

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00000912	0.00000880
Middle Eastern	0.00	0.00
South Asian	0.0000331	0.0000327
Other	0.000170	0.000163

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0999

Intolerance Scores

• loftool: 0.411
• rvis_EVS: 0.06
• rvis_percentile_EVS: 58

Haploinsufficiency Scores

• pHI: 0.122
• hipred: N
• hipred_score: 0.181
• ghis: 0.612

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.283

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Cdkn2aipnl
• Phenotype: homeostasis/metabolism phenotype

Gene ontology

• Cellular component: nucleoplasm;nucleolus
• Molecular function: protein binding