KPNA7

karyopherin subunit alpha 7, the group of Importins|Armadillo repeat containing

Basic information

Region (hg38): 7:99173572-99250075

Links

ENSG00000185467

∙ NCBI:402569 ∙ OMIM:614107 ∙ HGNC:21839 ∙ Uniprot:A9QM74 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome (Supportive), mode of inheritance: AR
oocyte/zygote/embryo maturation arrest 17 (Strong), mode of inheritance: AR

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Oocyte/zygote/embryo maturation arrest 17	AR	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	Obstetric	36647821

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the KPNA7 gene.

not_provided (493 variants)
not_specified (83 variants)
KPNA7-related_disorder (16 variants)
Oocyte/zygote/embryo_maturation_arrest_17 (7 variants)
Intellectual_disability,_mild (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KPNA7 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001145715.3. 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.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous			6 clinvar	146 clinvar	1 clinvar	153
missense	1 clinvar		228 clinvar	10 clinvar	4 clinvar	243
nonsense		1 clinvar	14 clinvar			15
start loss			1			1
frameshift	1 clinvar		17 clinvar			18
splice donor/acceptor (+/-2bp)			6 clinvar			6
Total	2	1	272	156	5

Highest pathogenic variant AF is 0.0000212707

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
KPNA7	protein_coding	protein_coding	ENST00000327442	10	33933

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.38e-15	0.0206	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.907	238	281	0.848	0.0000160	3327
Missense in Polyphen		75	96.747	0.77522		1223
Synonymous	1.13	104	120	0.869	0.00000756	1042
Loss of Function	0.236	23	24.3	0.948	0.00000147	254

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)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Function: FUNCTION: Functions in nuclear protein import. {ECO:0000250}.;
Pathway: Disease;NS1 Mediated Effects on Host Pathways;Host Interactions with Influenza Factors;Influenza Infection;Infectious disease (Consensus)

Intolerance Scores

loftool
rvis_EVS: 0.4
rvis_percentile_EVS: 76.15

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: N
gene_indispensability_score: 0.296

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

Gene name: Kpna7
Phenotype: cellular 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); reproductive system phenotype;

Gene ontology

Biological process: protein import into nucleus;modulation by virus of host process
Cellular component: nucleoplasm;cytosol
Molecular function: protein binding;protein transporter activity;nuclear import signal receptor activity