ANKRD26

ankyrin repeat domain containing 26, the group of Ankyrin repeat domain containing

Basic information

Region (hg38): 10:26973792-27100494

Previous symbols: [ "THC2" ]

Links

ENSG00000107890 ∙ NCBI:22852 ∙ OMIM:610855 ∙ HGNC:29186 ∙ Uniprot:Q9UPS8 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• acute myeloid leukemia (Strong), mode of inheritance: AD
• hereditary thrombocytopenia and hematologic cancer predisposition syndrome (Supportive), mode of inheritance: AD
• autosomal thrombocytopenia with normal platelets (Supportive), mode of inheritance: AD
• thrombocytopenia 2 (Strong), mode of inheritance: AD
• thrombocytopenia 2 (Strong), mode of inheritance: AD
• thrombocytopenia 2 (Strong), mode of inheritance: AD
• thrombocytopenia 2 (Definitive), mode of inheritance: AD

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Thrombocytopenia 2	AD	Hematologic	Individuals may have bleeding tendency, and awareness may allow precautions (eg, in surgical situations) and prompt treatment, which may be beneficial	Hematologic	10541317; 10521306; 10891439; 20626622; 21211618
A variant in ABCD5 was reported as causative

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ANKRD26 gene.

• not provided (597 variants)
• Thrombocytopenia 2 (190 variants)
• not specified (126 variants)
• Inborn genetic diseases (45 variants)
• Thrombocytopenia (22 variants)
• ANKRD26-related condition (21 variants)
• Inherited bleeding disorder, platelet-type (1 variants)
• Abnormal bleeding;Thrombocytopenia (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ANKRD26 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			9	55	9	73
missense			291	23	15	329
nonsense	1		7			8
start loss			1			1
frameshift			16			16
inframe indel			7	1		8
splice donor/acceptor (+/-2bp)			6			6
splice region			15	12	10	37
non coding	2	7	47	65	100	221
Total	3	7	384	144	124

Highest pathogenic variant AF is 0.0000131

Variants in ANKRD26

This is a list of pathogenic ClinVar variants found in the ANKRD26 region.

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

Position	Type	Phenotype	Significance	ClinVar
10-27004157-T-C		Thrombocytopenia 2	Benign (Jan 12, 2018)
10-27004239-C-A		Thrombocytopenia 2	Uncertain significance (Jan 13, 2018)
10-27004347-T-C		Thrombocytopenia 2	Uncertain significance (Jan 12, 2018)
10-27004354-CA-C		Thrombocytopenia	Likely benign (Jun 14, 2016)
10-27004378-C-T		Thrombocytopenia 2	Benign (Jan 13, 2018)
10-27004415-G-A		Thrombocytopenia 2	Benign (Jan 12, 2018)
10-27004416-G-C		Thrombocytopenia 2	Uncertain significance (Jan 13, 2018)
10-27004420-C-T		Thrombocytopenia 2	Uncertain significance (Jan 13, 2018)
10-27004421-G-A		Thrombocytopenia 2	Uncertain significance (Jan 12, 2018)
10-27004470-T-C		Thrombocytopenia 2	Benign (Jan 13, 2018)
10-27004561-C-T		Thrombocytopenia 2	Uncertain significance (Jan 13, 2018)
10-27004578-G-T		Thrombocytopenia 2	Benign (Jan 13, 2018)
10-27004686-G-T		Thrombocytopenia 2	Benign (Jan 12, 2018)
10-27004774-G-GA		Thrombocytopenia	Likely benign (Jun 14, 2016)
10-27004886-G-C		Thrombocytopenia 2	Uncertain significance (Jan 13, 2018)
10-27004995-C-T		Thrombocytopenia 2	Uncertain significance (Apr 27, 2017)
10-27005024-C-A		Thrombocytopenia 2	Uncertain significance (Jan 12, 2018)
10-27005024-C-T		Thrombocytopenia 2	Uncertain significance (Jan 12, 2018)
10-27005060-G-C		Thrombocytopenia 2	Uncertain significance (Jan 12, 2018)
10-27005108-T-G		Thrombocytopenia 2	Uncertain significance (Jan 12, 2018)
10-27005420-C-T		Thrombocytopenia 2	Uncertain significance (Jan 13, 2018)
10-27005448-C-T		Thrombocytopenia 2	Uncertain significance (Jan 13, 2018)
10-27005520-CAT-C		Thrombocytopenia • Thrombocytopenia 2	Benign/Likely benign (Dec 05, 2021)
10-27005521-A-G		Thrombocytopenia 2	Uncertain significance (Jan 12, 2018)
10-27005582-C-A		Thrombocytopenia 2	Uncertain significance (Jan 13, 2018)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ANKRD26	protein_coding	protein_coding	ENST00000376087	34	108579

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.57e-24	1.00	124625	0	180	124805	0.000721

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.396	855	823	1.04	0.0000387	11402
Missense in Polyphen		147	160.19	0.91764		2511
Synonymous	0.161	291	295	0.988	0.0000145	2917
Loss of Function	3.68	53	90.9	0.583	0.00000428	1221

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00180	0.00180
Ashkenazi Jewish	0.000199	0.000199
East Asian	0.000447	0.000445
Finnish	0.00141	0.00139
European (Non-Finnish)	0.000604	0.000600
Middle Eastern	0.000447	0.000445
South Asian	0.000633	0.000621
Other	0.000999	0.000990

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Acts as a regulator of adipogenesis. Involved in the regulation of the feeding behavior. {ECO:0000250|UniProtKB:Q811D2}.
• Disease: DISEASE: Thrombocytopenia 2 (THC2) [MIM:188000]: Thrombocytopenia is defined by a decrease in the number of platelets in circulating blood, resulting in the potential for increased bleeding and decreased ability for clotting. {ECO:0000269|PubMed:21211618}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Recessive Scores

• pRec: 0.102

Intolerance Scores

• loftool: 0.985
• rvis_EVS: 2.15
• rvis_percentile_EVS: 97.98

Haploinsufficiency Scores

• pHI: 0.322
• hipred: N
• hipred_score: 0.214
• ghis: 0.458

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.287

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ankrd26
• Phenotype: renal/urinary system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); growth/size/body region phenotype; adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); homeostasis/metabolism phenotype

Gene ontology

• Biological process: negative regulation of fat cell differentiation
• Cellular component: centrosome
• Molecular function: protein binding