ANKRD26

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

Basic information

Region (hg38): 10:26973793-27100494

Previous symbols: [ "THC2" ]

Links

ENSG00000107890NCBI:22852OMIM:610855HGNC:29186Uniprot:Q9UPS8AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

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

ConditionInheritanceIntervention CategoriesIntervention/Rationale Manifestation CategoriesReferences
Thrombocytopenia 2ADHematologicIndividuals may have bleeding tendency, and awareness may allow precautions (eg, in surgical situations) and prompt treatment, which may be beneficialHematologic10541317; 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.

  • Inborn_genetic_diseases (1720 variants)
  • not_provided (1116 variants)
  • Thrombocytopenia_2 (170 variants)
  • not_specified (127 variants)
  • ANKRD26-related_disorder (99 variants)
  • Thrombocytopenia (7 variants)
  • Abnormal_bleeding (1 variants)
  • Inherited_bleeding_disorder,_platelet-type (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. These statistics are base on transcript: NM_000014915.3. Only rare variants are included in the table.

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.

EffectPLPVUSLBBSum
synonymous
8
clinvar
477
clinvar
1
clinvar
486
missense
1408
clinvar
124
clinvar
13
clinvar
1545
nonsense
1
clinvar
1
clinvar
22
clinvar
2
clinvar
26
start loss
2
2
frameshift
1
clinvar
44
clinvar
1
clinvar
46
splice donor/acceptor (+/-2bp)
15
clinvar
15
Total 1 2 1499 604 14

Highest pathogenic variant AF is 0.000017968072

Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
ANKRD26protein_codingprotein_codingENST00000376087 34108579
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
3.57e-241.0012462501801248050.000721
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense-0.3968558231.040.000038711402
Missense in Polyphen147160.190.917642511
Synonymous0.1612912950.9880.00001452917
Loss of Function3.685390.90.5830.000004281221

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.001800.00180
Ashkenazi Jewish0.0001990.000199
East Asian0.0004470.000445
Finnish0.001410.00139
European (Non-Finnish)0.0006040.000600
Middle Eastern0.0004470.000445
South Asian0.0006330.000621
Other0.0009990.000990

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

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

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