AHNAK

AHNAK nucleoprotein, the group of PDZ domain containing

Basic information

Region (hg38): 11:62433542-62556235

Links

ENSG00000124942 ∙ NCBI:79026 ∙ OMIM:103390 ∙ HGNC:347 ∙ Uniprot:Q09666 ∙ 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 AHNAK gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the AHNAK 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				45	21	66
missense			363	38	30	431
nonsense						0
start loss						0
frameshift			1			1
inframe indel					2	2
splice donor/acceptor (+/-2bp)						0
splice region				1		1
non coding						0
Total	0	0	364	83	53

Variants in AHNAK

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

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

Position	Type	Phenotype	Significance	ClinVar
11-62433891-C-A		AHNAK-related disorder	Benign (May 02, 2019)
11-62491750-C-T		AHNAK-related disorder	Likely benign (Nov 21, 2022)
11-62491760-C-T		AHNAK-related disorder	Likely benign (Sep 18, 2019)
11-62491763-G-A		AHNAK-related disorder	Likely benign (Aug 08, 2019)
11-62491810-G-C		AHNAK-related disorder	Benign (Sep 10, 2019)
11-62491829-G-A			Likely benign (Dec 01, 2022)
11-62516823-G-A		not specified	Uncertain significance (Nov 01, 2022)
11-62516833-G-C			Benign (Aug 05, 2018)
11-62516893-C-T		not specified	Uncertain significance (Nov 26, 2024)
11-62516914-G-T		not specified	Uncertain significance (Oct 05, 2023)
11-62516944-A-T		not specified	Uncertain significance (Mar 15, 2024)
11-62516974-C-T		not specified	Uncertain significance (May 04, 2023)
11-62516997-G-A			Benign (Jan 30, 2018)
11-62517030-G-A			Benign (Sep 01, 2023)
11-62517076-T-C		not specified	Uncertain significance (Jan 18, 2023)
11-62517093-T-G		not specified	Uncertain significance (Jan 29, 2024)
11-62517123-T-G		not specified	Uncertain significance (Aug 12, 2022)
11-62517198-T-G		not specified	Uncertain significance (May 27, 2022)
11-62517247-C-T		not specified	Uncertain significance (Apr 16, 2024)
11-62517297-A-G		not specified	Uncertain significance (Mar 06, 2023)
11-62517320-C-T			Benign/Likely benign (Nov 01, 2024)
11-62517383-C-T		not specified	Uncertain significance (May 17, 2023)
11-62517405-C-T		not specified	Uncertain significance (Oct 29, 2024)
11-62517408-C-T		not specified	Uncertain significance (Jul 19, 2023)
11-62517426-G-C		not specified	Uncertain significance (Sep 22, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
AHNAK	protein_coding	protein_coding	ENST00000378024	3	122692

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.898	0.102	125643	0	105	125748	0.000418

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-2.97	3534	3.07e+3	1.15	0.000156	39206
Missense in Polyphen		1365	1274.6	1.0709		16927
Synonymous	-1.33	1201	1.14e+3	1.05	0.0000655	11579
Loss of Function	6.84	18	86.7	0.208	0.00000419	1788

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00111	0.00111
Ashkenazi Jewish	0.0000994	0.0000992
East Asian	0.000979	0.000979
Finnish	0.000231	0.000231
European (Non-Finnish)	0.000273	0.000273
Middle Eastern	0.000979	0.000979
South Asian	0.000392	0.000392
Other	0.000490	0.000489

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May be required for neuronal cell differentiation.
• Pathway: EGFR1 (Consensus)

Intolerance Scores

• loftool: 0.303
• rvis_EVS: -2.83
• rvis_percentile_EVS: 0.61

Haploinsufficiency Scores

• pHI: 0.191
• hipred: Y
• hipred_score: 0.595
• ghis: 0.597

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.998

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ahnak
• Phenotype: adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); growth/size/body region phenotype; immune system phenotype; homeostasis/metabolism phenotype; hematopoietic system 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); normal phenotype

Gene ontology

• Biological process: regulation of RNA splicing;protein complex oligomerization;regulation of voltage-gated calcium channel activity
• Cellular component: nucleus;cytoplasm;lysosomal membrane;cytosol;plasma membrane;focal adhesion;actin cytoskeleton;membrane;T-tubule;vesicle;sarcolemma;costamere;cell-cell contact zone;membrane raft;extracellular exosome
• Molecular function: RNA binding;protein binding;S100 protein binding;cadherin binding;structural molecule activity conferring elasticity