NKAPL

NFKB activating protein like

Basic information

Region (hg38): 6:28259296-28260958

Previous symbols: [ "C6orf194" ]

Links

ENSG00000189134 ∙ NCBI:222698 ∙ ∙ HGNC:21584 ∙ Uniprot:Q5M9Q1 ∙ 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 NKAPL 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 NKAPL 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 NKAPL

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

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

Position	Type	Phenotype	Significance	ClinVar
6-28259390-T-A		not specified	Uncertain significance (Sep 13, 2022)
6-28259499-C-T		not specified	Uncertain significance (Dec 02, 2021)
6-28259545-G-C		not specified	Uncertain significance (Jan 08, 2024)
6-28259573-C-T		not specified	Uncertain significance (Jun 24, 2022)
6-28259661-A-G		not specified	Uncertain significance (Jun 22, 2023)
6-28259681-G-A		not specified	Uncertain significance (Feb 10, 2023)
6-28259724-G-C		not specified	Uncertain significance (Feb 27, 2024)
6-28259845-A-C		not specified	Uncertain significance (Dec 16, 2023)
6-28259905-G-C		not specified	Uncertain significance (Sep 17, 2021)
6-28259982-G-A		not specified	Uncertain significance (Jul 28, 2021)
6-28260032-A-G		not specified	Uncertain significance (Mar 07, 2023)
6-28260083-A-G		not specified	Uncertain significance (Jul 08, 2022)
6-28260084-A-C		not specified	Uncertain significance (Nov 01, 2022)
6-28260092-A-G		not specified	Uncertain significance (Aug 02, 2021)
6-28260365-G-C		not specified	Uncertain significance (Oct 06, 2022)
6-28260392-A-C		not specified	Uncertain significance (May 17, 2023)
6-28260404-A-G		not specified	Uncertain significance (Mar 08, 2024)
6-28260471-G-C		not specified	Uncertain significance (Apr 28, 2022)
6-28260483-C-T		not specified	Uncertain significance (Nov 15, 2021)
6-28260519-A-G		not specified	Uncertain significance (Jun 26, 2023)
6-28260549-A-T		not specified	Uncertain significance (Nov 12, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
NKAPL	protein_coding	protein_coding	ENST00000343684	1	1639

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000922	0.942	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.01	196	240	0.817	0.0000144	2638
Missense in Polyphen		39	52.134	0.74807		596
Synonymous	1.42	74	91.3	0.810	0.00000563	753
Loss of Function	1.72	9	16.6	0.544	0.00000116	188

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)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Transcriptional repressor of Notch-mediated signaling. Required for spermatogenesis. {ECO:0000250|UniProtKB:Q5SZT7}.

Recessive Scores

• pRec: 0.0726

Intolerance Scores

• loftool: 0.898
• rvis_EVS: 1.82
• rvis_percentile_EVS: 96.97

Haploinsufficiency Scores

• pHI: 0.0467
• hipred: N
• hipred_score: 0.187

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0148

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Nkapl
• Phenotype: reproductive system phenotype; cellular phenotype; endocrine/exocrine gland phenotype

Gene ontology

• Biological process: spermatogenesis;cell differentiation
• Cellular component: nucleus
• Molecular function: chromatin binding