KANK1
Basic information
Region (hg38): 9:470290-746105
Previous symbols: [ "ANKRD15" ]
Links
Phenotypes
GenCC
Source:
- cerebral palsy, spastic quadriplegic, 2 (Limited), mode of inheritance: Autosomal dominant inheritance with maternal imprinting HP:0012275
- spastic quadriplegic cerebral palsy (Supportive), mode of inheritance: AR
- cerebral palsy, spastic quadriplegic, 2 (Limited), mode of inheritance: AD
- cerebral palsy, spastic quadriplegic, 2 (Limited), mode of inheritance: Unknown
Clinical Genomic Database
Source:
Condition | Inheritance | Intervention Categories | Intervention/Rationale | Manifestation Categories | References |
---|---|---|---|---|---|
Cerebral palsy, spastic quadriplegic, 2 | 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 | Neurologic | 16301218 |
ClinVar
This is a list of variants' phenotypes submitted to
- not provided (575 variants)
- Inborn genetic diseases (108 variants)
- Cerebral palsy, spastic quadriplegic, 2 (99 variants)
- not specified (10 variants)
- KANK1-related condition (4 variants)
- Abnormal brain morphology (1 variants)
- KANK1- Related Disorder (1 variants)
- Rare genetic intellectual disability (1 variants)
- Amyotrophic lateral sclerosis (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the KANK1 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 | 107 | 13 | 121 | |||
missense | 309 | 27 | 346 | |||
nonsense | 5 | |||||
start loss | 2 | |||||
frameshift | 7 | |||||
inframe indel | 11 | 15 | ||||
splice donor/acceptor (+/-2bp) | 3 | |||||
splice region ? | 5 | 13 | 4 | 22 | ||
non coding ? | 39 | 72 | 117 | |||
Total | 0 | 1 | 344 | 176 | 95 |
Variants in KANK1
This is a list of pathogenic ClinVar variants found in the KANK1 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
KANK1 | protein_coding | protein_coding | ENST00000382303 | 11 | 275815 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
7.98e-18 | 0.567 | 125621 | 0 | 127 | 125748 | 0.000505 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | -4.81 | 1165 | 786 | 1.48 | 0.0000446 | 8877 |
Missense in Polyphen | 343 | 247.94 | 1.3834 | 2814 | ||
Synonymous | -5.27 | 433 | 314 | 1.38 | 0.0000193 | 2711 |
Loss of Function | 1.84 | 34 | 47.7 | 0.712 | 0.00000245 | 581 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.00115 | 0.00115 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.00103 | 0.00103 |
Finnish | 0.000647 | 0.000647 |
European (Non-Finnish) | 0.000445 | 0.000431 |
Middle Eastern | 0.00103 | 0.00103 |
South Asian | 0.000393 | 0.000392 |
Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Involved in the control of cytoskeleton formation by regulating actin polymerization. Inhibits actin fiber formation and cell migration. Inhibits RhoA activity; the function involves phosphorylation through PI3K/Akt signaling and may depend on the competetive interaction with 14-3-3 adapter proteins to sequester them from active complexes. Inhibits the formation of lamellipodia but not of filopodia; the function may depend on the competetive interaction with BAIAP2 to block its association with activated RAC1. Inhibits fibronectin-mediated cell spreading; the function is partially mediated by BAIAP2. Inhibits neurite outgrowth. Involved in the establishment and persistence of cell polarity during directed cell movement in wound healing. In the nucleus, is involved in beta-catenin-dependent activation of transcription. Potential tumor suppressor for renal cell carcinoma. {ECO:0000269|PubMed:16968744, ECO:0000269|PubMed:18458160, ECO:0000269|PubMed:19171758, ECO:0000269|PubMed:22084092}.;
Recessive Scores
- pRec
- 0.0989
Intolerance Scores
- loftool
- 0.810
- rvis_EVS
- -0.92
- rvis_percentile_EVS
- 9.78
Haploinsufficiency Scores
- pHI
- 0.517
- hipred
- hipred_score
- ghis
- 0.519
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.205
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | High | High | High |
Primary Immunodeficiency | High | High | High |
Cancer | High | High | High |
Mouse Genome Informatics
- Gene name
- Kank1
- Phenotype
Gene ontology
- Biological process
- cell population proliferation;negative regulation of neuron projection development;actin cytoskeleton organization;positive regulation of Wnt signaling pathway;negative regulation of cell migration;negative regulation of actin filament polymerization;regulation of Rho protein signal transduction;negative regulation of Rho protein signal transduction;negative regulation of insulin receptor signaling pathway;positive regulation of canonical Wnt signaling pathway;positive regulation of wound healing;glomerular visceral epithelial cell migration;negative regulation of substrate adhesion-dependent cell spreading;negative regulation of ruffle assembly;regulation of establishment of cell polarity;negative regulation of lamellipodium morphogenesis
- Cellular component
- nucleus;cytoplasm;plasma membrane;ruffle membrane
- Molecular function
- protein binding;beta-catenin binding