ANKRD36

ankyrin repeat domain 36, the group of Ankyrin repeat domain containing

Basic information

Region (hg38): 2:97113152-97264521

Links

ENSG00000135976 ∙ NCBI:375248 ∙ OMIM:620262 ∙ HGNC:24079 ∙ Uniprot:A6QL64 ∙ 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 ANKRD36 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ANKRD36 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				8		8
missense				3		3
nonsense						0
start loss				1		1
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)					1	1
splice region				1		1
non coding				1		1
Total	0	0	0	13	1

Variants in ANKRD36

This is a list of pathogenic ClinVar variants found in the ANKRD36 region.

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

Position	Type	Phenotype	Significance	ClinVar
2-97113736-G-C			Likely benign (Feb 01, 2023)
2-97113741-T-A			Likely benign (Feb 01, 2023)
2-97113750-G-A			Likely benign (Feb 01, 2023)
2-97113752-A-G			Likely benign (Feb 01, 2023)
2-97113864-A-G			Likely benign (Feb 01, 2023)
2-97124550-G-A			Likely benign (Mar 01, 2023)
2-97154693-C-T			Likely benign (Dec 01, 2022)
2-97158601-T-C			Likely benign (Mar 01, 2023)
2-97179872-C-T			Likely benign (Aug 01, 2023)
2-97189215-A-C			Likely benign (Jul 01, 2023)
2-97194844-G-A		Hearing loss, autosomal recessive	Likely pathogenic (Jul 06, 2019)
2-97196724-T-G		Hearing loss, autosomal recessive	Likely pathogenic (Jul 06, 2019)
2-97213610-A-G			Likely benign (Dec 01, 2022)
2-97224796-A-AT			Benign (Jan 18, 2024)
2-97243981-C-T			Likely benign (Aug 01, 2023)
2-97245372-T-C			Likely benign (Dec 01, 2022)
2-97250149-G-C			Likely benign (Nov 01, 2022)
2-97250149-G-GC		Oligosynaptic infertility;Acromesomelic dysplasia 2B	Benign (-)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ANKRD36	protein_coding	protein_coding	ENST00000420699	75	151026

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
8.32e-86	2.98e-17	123243	77	1475	124795	0.00624

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-1.38	794	692	1.15	0.0000337	12356
Missense in Polyphen		222	206.13	1.077		3217
Synonymous	-0.197	239	235	1.02	0.0000126	3286
Loss of Function	-2.05	117	95.4	1.23	0.00000433	1699

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00233	0.00230
Ashkenazi Jewish	0.0194	0.0184
East Asian	0.0711	0.0592
Finnish	0.0000796	0.0000464
European (Non-Finnish)	0.000859	0.000795
Middle Eastern	0.0711	0.0592
South Asian	0.00618	0.00537
Other	0.00273	0.00248

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.112
• ghis: 0.406

Essentials

• essential_gene_CRISPR: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0333

Gene Damage Prediction

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