KANK3

KN motif and ankyrin repeat domains 3, the group of KN motif and ankyrin repeat domain containing

Basic information

Region (hg38): 19:8322584-8343262

Previous symbols: [ "ANKRD47" ]

Links

ENSG00000186994NCBI:256949OMIM:614611HGNC:24796Uniprot:Q6NY19AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the KANK3 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KANK3 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
1
clinvar
1
missense
65
clinvar
3
clinvar
68
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 65 4 0

Variants in KANK3

This is a list of pathogenic ClinVar variants found in the KANK3 region.

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

Position Type Phenotype Significance ClinVar
19-8322916-A-G not specified Uncertain significance (Jun 11, 2024)3287331
19-8322919-C-T not specified Uncertain significance (Jun 18, 2024)2343353
19-8324481-C-A not specified Uncertain significance (Feb 06, 2024)3112626
19-8324523-C-T not specified Uncertain significance (Jan 04, 2022)2399523
19-8324680-C-T not specified Uncertain significance (Aug 11, 2022)2357261
19-8324715-A-G not specified Uncertain significance (May 06, 2024)3287328
19-8324721-G-C not specified Uncertain significance (Jun 10, 2024)2358300
19-8324733-G-T not specified Uncertain significance (Sep 25, 2023)3112625
19-8324763-G-A not specified Uncertain significance (Nov 08, 2021)2259250
19-8324790-C-T not specified Uncertain significance (Jun 12, 2023)2559441
19-8324829-G-A not specified Uncertain significance (Mar 29, 2024)3287323
19-8325006-A-G not specified Uncertain significance (Jun 11, 2021)2360154
19-8325069-C-T not specified Uncertain significance (Aug 10, 2021)2242755
19-8333026-G-A not specified Uncertain significance (Dec 13, 2022)2240161
19-8333092-C-A not specified Uncertain significance (Nov 12, 2021)2407879
19-8333101-T-A not specified Uncertain significance (Jun 24, 2022)2296873
19-8333116-G-T not specified Uncertain significance (Jun 12, 2023)2559794
19-8333179-G-A not specified Uncertain significance (Jan 19, 2022)2381373
19-8333199-A-T not specified Uncertain significance (May 30, 2024)3287330
19-8333215-C-T not specified Uncertain significance (Nov 13, 2023)3112622
19-8333221-G-A not specified Uncertain significance (Aug 22, 2023)2596740
19-8333919-G-A not specified Uncertain significance (Jul 06, 2021)2235138
19-8333925-T-A not specified Likely benign (Aug 17, 2022)2326790
19-8333943-G-C not specified Uncertain significance (Oct 18, 2021)2365297
19-8333947-C-T not specified Uncertain significance (Jan 31, 2022)2274736

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
KANK3protein_codingprotein_codingENST00000330915 1020679
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
2.73e-80.7411257060421257480.000167
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.9532763240.8510.00001745055
Missense in Polyphen5773.5330.775171680
Synonymous-0.3801511451.040.000008231820
Loss of Function1.371521.90.6840.00000113281

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0003590.000358
Ashkenazi Jewish0.000.00
East Asian0.000.00
Finnish0.00004650.0000462
European (Non-Finnish)0.0002420.000237
Middle Eastern0.000.00
South Asian0.00009840.0000980
Other0.0001660.000163

dbNSFP

Source: dbNSFP

Function
FUNCTION: May be involved in the control of cytoskeleton formation by regulating actin polymerization.;

Recessive Scores

pRec
0.0957

Haploinsufficiency Scores

pHI
0.245
hipred
N
hipred_score
0.285
ghis
0.415

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.299

Gene Damage Prediction

AllRecessiveDominant
MendelianHighHighHigh
Primary ImmunodeficiencyHighHighHigh
CancerHighHighHigh

Mouse Genome Informatics

Gene name
Kank3
Phenotype

Zebrafish Information Network

Gene name
kank3
Affected structure
epidermal cell
Phenotype tag
abnormal
Phenotype quality
increased variability of size

Gene ontology

Biological process
negative regulation of actin filament polymerization
Cellular component
cytoplasm
Molecular function