ANKRD11
ankyrin repeat domain containing 11, the group of Ankyrin repeat domain containing
Basic information
Region (hg38): 16:89267619-89490561
Links
Phenotypes
GenCC
Source:
- KBG syndrome (Definitive), mode of inheritance: AD
- KBG syndrome (Definitive), mode of inheritance: AD
- KBG syndrome (Definitive), mode of inheritance: AD
- KBG syndrome (Supportive), mode of inheritance: AD
- congenital heart defects, multiple types (Limited), mode of inheritance: AD
- KBG syndrome (Strong), mode of inheritance: AD
- KBG syndrome (Definitive), mode of inheritance: AD
Clinical Genomic Database
Source:
| Condition | Inheritance | Intervention Categories | Intervention/Rationale | Manifestation Categories | References |
|---|---|---|---|---|---|
| KBG syndrome | AD | General | Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing | Craniofacial; Dental; Musculoskeletal; Neurologic | 15523620; 15378538; 21782149; 22307766; 25125236 |
ClinVar
This is a list of variants' phenotypes submitted to
- KBG_syndrome (1941 variants)
- not_provided (1078 variants)
- Inborn_genetic_diseases (780 variants)
- ANKRD11-related_disorder (211 variants)
- not_specified (112 variants)
- Intellectual_disability (39 variants)
- Global_developmental_delay (19 variants)
- See_cases (9 variants)
- Rare_genetic_intellectual_disability (6 variants)
- Neurodevelopmental_disorder (6 variants)
- Encephalopathy,_progressive,_early-onset,_with_episodic_rhabdomyolysis (5 variants)
- Seizure (3 variants)
- Developmental_disorder (3 variants)
- Autism_spectrum_disorder (2 variants)
- Abnormality_of_the_nervous_system (2 variants)
- Retrognathia (1 variants)
- Esotropia (1 variants)
- Epilepsy (1 variants)
- Delayed_speech_and_language_development (1 variants)
- Epicanthus (1 variants)
- Chromatinopathy (1 variants)
- Conductive_hearing_impairment (1 variants)
- Short_foot (1 variants)
- Short_palm (1 variants)
- Clinodactyly_of_the_5th_finger (1 variants)
- Neurodevelopmental_abnormality (1 variants)
- Sudden_unexplained_death_in_childhood (1 variants)
- Hypertelorism (1 variants)
- Atypical_behavior (1 variants)
- Multiple_congenital_anomalies/dysmorphic_syndrome (1 variants)
- Obesity (1 variants)
- Hand_tremor (1 variants)
- Dystonia,_early-onset,_and/or_spastic_paraplegia (1 variants)
- Decreased_total_neutrophil_count (1 variants)
- Wide_nasal_bridge (1 variants)
- Ptosis (1 variants)
- Cryptorchidism (1 variants)
- Neurodevelopmental_delay (1 variants)
- Hypermetropia (1 variants)
- Vascular_disorder (1 variants)
- EBV-positive_nodal_T-_and_NK-cell_lymphoma (1 variants)
- Unilateral_cryptorchidism (1 variants)
- Moderate_intellectual_deficiency (1 variants)
- Abnormal_facial_shape (1 variants)
- Macrocephaly (1 variants)
- Astigmatism (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the ANKRD11 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000013275.6. 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.
| Effect | PathogenicP | Likely pathogenicLP | VUSVUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 638 | 36 | 683 | |||
| missense | 13 | 40 | 1104 | 336 | 28 | 1521 |
| nonsense | 125 | 44 | 169 | |||
| start loss | 0 | |||||
| frameshift | 279 | 102 | 384 | |||
| splice donor/acceptor (+/-2bp) | 13 | 25 | ||||
| Total | 430 | 195 | 1119 | 974 | 64 |
Highest pathogenic variant AF is 0.0000123928
Loading clinvar variants...
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| ANKRD11 | protein_coding | protein_coding | ENST00000301030 | 11 | 222932 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 1.00 | 1.69e-11 | 125741 | 0 | 7 | 125748 | 0.0000278 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | -0.554 | 1657 | 1.59e+3 | 1.04 | 0.000114 | 17483 |
| Missense in Polyphen | 463 | 660.5 | 0.70098 | 7316 | ||
| Synonymous | -7.96 | 1033 | 755 | 1.37 | 0.0000660 | 5171 |
| Loss of Function | 8.17 | 4 | 85.5 | 0.0468 | 0.00000496 | 1133 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.0000289 | 0.0000289 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.00 | 0.00 |
| Finnish | 0.0000977 | 0.0000924 |
| European (Non-Finnish) | 0.0000374 | 0.0000352 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.00 | 0.00 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Chromatin regulator which modulates histone acetylation and gene expression in neural precursor cells (By similarity). May recruit histone deacetylases (HDACs) to the p160 coactivators/nuclear receptor complex to inhibit ligand-dependent transactivation (PubMed:15184363). Has a role in proliferation and development of cortical neural precursors (PubMed:25556659). May also regulate bone homeostasis (By similarity). {ECO:0000250|UniProtKB:E9Q4F7, ECO:0000269|PubMed:15184363, ECO:0000269|PubMed:25556659}.;
- Disease
- DISEASE: KBG syndrome (KBGS) [MIM:148050]: A syndrome characterized by macrodontia of the upper central incisors, distinctive craniofacial findings, short stature, skeletal anomalies, and neurologic involvement that includes global developmental delay, seizures, and intellectual disability. {ECO:0000269|PubMed:21782149, ECO:0000269|PubMed:25413698}. Note=The disease is caused by mutations affecting the gene represented in this entry.;
Recessive Scores
- pRec
- 0.107
Intolerance Scores
- loftool
- 0.0131
- rvis_EVS
- -4.38
- rvis_percentile_EVS
- 0.09
Haploinsufficiency Scores
- pHI
- 0.249
- hipred
- Y
- hipred_score
- 0.689
- ghis
- 0.633
Essentials
- essential_gene_CRISPR
- E
- essential_gene_CRISPR2
- S
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.934
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Ankrd11
- 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); behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); embryo phenotype; skeleton phenotype; immune system phenotype; vision/eye phenotype; hearing/vestibular/ear phenotype; growth/size/body region phenotype; homeostasis/metabolism phenotype; craniofacial phenotype;
Gene ontology
- Biological process
- in utero embryonic development;tissue homeostasis;multicellular organism growth;odontogenesis of dentin-containing tooth;skeletal system morphogenesis;face morphogenesis;bone development
- Cellular component
- nucleus;nucleoplasm;cytosol;plasma membrane
- Molecular function