KPNA6
karyopherin subunit alpha 6, the group of Importins|Armadillo repeat containing
Basic information
Region (hg38): 1:32108056-32176563
Links
Phenotypes
GenCC
Source:
No genCC data.
ClinVar
This is a list of variants' phenotypes submitted to
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the KPNA6 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 | 0 | |||||
| missense | 7 | |||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 0 | |||||
| Total | 0 | 0 | 7 | 0 | 0 |
Variants in KPNA6
This is a list of pathogenic ClinVar variants found in the KPNA6 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 1-32154593-A-G | not specified | Uncertain significance (May 23, 2024) | ||
| 1-32156895-G-T | not specified | Uncertain significance (Feb 05, 2024) | ||
| 1-32157369-G-A | not specified | Uncertain significance (May 25, 2022) | ||
| 1-32157388-G-A | not specified | Uncertain significance (Dec 04, 2024) | ||
| 1-32158284-G-A | not specified | Uncertain significance (Apr 01, 2024) | ||
| 1-32158318-G-A | not specified | Uncertain significance (Nov 09, 2024) | ||
| 1-32159506-C-T | not specified | Uncertain significance (Jun 26, 2024) | ||
| 1-32162371-G-A | not specified | Uncertain significance (Jun 10, 2024) | ||
| 1-32166160-A-G | not specified | Uncertain significance (Oct 16, 2024) | ||
| 1-32167175-A-G | not specified | Uncertain significance (Dec 11, 2023) | ||
| 1-32167176-T-C | not specified | Uncertain significance (Sep 26, 2024) | ||
| 1-32167194-C-G | not specified | Uncertain significance (May 01, 2024) | ||
| 1-32169909-A-C | not specified | Uncertain significance (Mar 24, 2023) | ||
| 1-32170024-G-A | not specified | Uncertain significance (Dec 21, 2022) | ||
| 1-32170802-G-A | not specified | Uncertain significance (Aug 23, 2021) | ||
| 1-32170812-G-T | not specified | Uncertain significance (Feb 06, 2023) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| KPNA6 | protein_coding | protein_coding | ENST00000373625 | 14 | 68531 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.999 | 0.000599 | 125743 | 0 | 5 | 125748 | 0.0000199 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 3.34 | 140 | 304 | 0.461 | 0.0000167 | 3509 |
| Missense in Polyphen | 21 | 112.86 | 0.18607 | 1336 | ||
| Synonymous | 1.26 | 98 | 115 | 0.851 | 0.00000628 | 1048 |
| Loss of Function | 4.98 | 3 | 34.6 | 0.0867 | 0.00000209 | 353 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.00 | 0.00 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.00 | 0.00 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.0000354 | 0.0000352 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.0000327 | 0.0000327 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Functions in nuclear protein import as an adapter protein for nuclear receptor KPNB1. Binds specifically and directly to substrates containing either a simple or bipartite NLS motif. Docking of the importin/substrate complex to the nuclear pore complex (NPC) is mediated by KPNB1 through binding to nucleoporin FxFG repeats and the complex is subsequently translocated through the pore by an energy requiring, Ran- dependent mechanism. At the nucleoplasmic side of the NPC, Ran binds to importin-beta and the three components separate and importin-alpha and -beta are re-exported from the nucleus to the cytoplasm where GTP hydrolysis releases Ran from importin. The directionality of nuclear import is thought to be conferred by an asymmetric distribution of the GTP- and GDP-bound forms of Ran between the cytoplasm and nucleus. {ECO:0000269|PubMed:10523667}.;
- Pathway
- Purine metabolism;TNFalpha
(Consensus)
Recessive Scores
- pRec
- 0.171
Intolerance Scores
- loftool
- 0.155
- rvis_EVS
- -0.45
- rvis_percentile_EVS
- 24
Haploinsufficiency Scores
- pHI
- 0.915
- hipred
- Y
- hipred_score
- 0.783
- ghis
- 0.639
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- S
- essential_gene_gene_trap
- H
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.801
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Kpna6
- Phenotype
- reproductive system phenotype;
Gene ontology
- Biological process
- NLS-bearing protein import into nucleus;positive regulation of transcription by RNA polymerase II;maternal process involved in female pregnancy
- Cellular component
- nuclear pore;nucleoplasm;cytosol;membrane
- Molecular function
- protein binding;nuclear localization sequence binding;protein transporter activity;nuclear import signal receptor activity