NKAIN1

sodium/potassium transporting ATPase interacting 1, the group of Na+/K+ transporting ATPase interacting

Basic information

Region (hg38): 1:31179745-31239887

Previous symbols: [ "FAM77C" ]

Links

ENSG00000084628 ∙ NCBI:79570 ∙ OMIM:612871 ∙ HGNC:25743 ∙ Uniprot:Q4KMZ8 ∙ 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 NKAIN1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the NKAIN1 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			8			8
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	8	0	0

Variants in NKAIN1

This is a list of pathogenic ClinVar variants found in the NKAIN1 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-31182563-C-G		not specified	Uncertain significance (Oct 13, 2021)
1-31183917-C-G		not specified	Uncertain significance (Dec 06, 2021)
1-31184010-C-T		not specified	Uncertain significance (Jan 11, 2023)
1-31185257-T-C		not specified	Uncertain significance (Feb 10, 2022)
1-31185303-C-T		not specified	Uncertain significance (Jan 26, 2022)
1-31188064-G-A		not specified	Uncertain significance (Sep 17, 2021)
1-31188110-G-C		not specified	Uncertain significance (Aug 07, 2023)
1-31188140-C-A		not specified	Uncertain significance (Dec 06, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
NKAIN1	protein_coding	protein_coding	ENST00000373736	7	59810

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.247	0.747	125740	0	6	125746	0.0000239

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.58	63	110	0.575	0.00000581	1325
Missense in Polyphen		23	53.852	0.42709		648
Synonymous	0.757	41	47.6	0.860	0.00000268	399
Loss of Function	2.38	3	11.8	0.254	5.15e-7	130

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)	0.0000358	0.0000352
Middle Eastern	0.000109	0.000109
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.105

Intolerance Scores

• loftool: 0.452
• rvis_EVS: 0.06
• rvis_percentile_EVS: 58.26

Haploinsufficiency Scores

• pHI: 0.722
• hipred: Y
• hipred_score: 0.587
• ghis: 0.538

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.432

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Nkain1

Gene ontology

• Biological process: regulation of sodium ion transport
• Cellular component: plasma membrane;integral component of membrane
• Molecular function: ATPase binding