XPO6

exportin 6, the group of Exportins

Basic information

Region (hg38): 16:28097975-28211965

Previous symbols: [ "RANBP20" ]

Links

ENSG00000169180 ∙ NCBI:23214 ∙ OMIM:608411 ∙ HGNC:19733 ∙ Uniprot:Q96QU8 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the XPO6 gene.

• Inborn genetic diseases (17 variants)
• not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the XPO6 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	1
missense			17			17
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	17	0	1

Variants in XPO6

This is a list of pathogenic ClinVar variants found in the XPO6 region.

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

Position	Type	Phenotype	Significance	ClinVar
16-28101918-C-T		not specified	Uncertain significance (Sep 20, 2023)
16-28104552-G-C		not specified	Uncertain significance (Jul 06, 2021)
16-28106081-C-T		not specified	Uncertain significance (Feb 21, 2024)
16-28106125-T-C		not specified	Uncertain significance (Dec 02, 2022)
16-28106166-C-T			Benign (Dec 31, 2019)
16-28106455-C-T		not specified	Uncertain significance (May 24, 2023)
16-28107560-A-C		not specified	Uncertain significance (Nov 07, 2022)
16-28107648-C-T		not specified	Uncertain significance (Jun 28, 2022)
16-28111877-C-A		not specified	Uncertain significance (May 04, 2023)
16-28111987-C-T		not specified	Uncertain significance (Jul 06, 2021)
16-28117382-G-A		not specified	Uncertain significance (Feb 09, 2023)
16-28117391-C-T		not specified	Uncertain significance (Feb 27, 2024)
16-28125830-G-A		not specified	Uncertain significance (Jan 22, 2024)
16-28132349-C-G		not specified	Uncertain significance (Oct 06, 2023)
16-28133914-C-T		not specified	Uncertain significance (Jan 12, 2024)
16-28135250-A-C		not specified	Uncertain significance (Jun 06, 2023)
16-28135320-C-T		not specified	Uncertain significance (Mar 11, 2022)
16-28146112-T-A		not specified	Uncertain significance (Sep 14, 2023)
16-28152694-A-G		not specified	Uncertain significance (Oct 20, 2023)
16-28152781-T-C		not specified	Uncertain significance (Sep 06, 2022)
16-28156243-C-G		not specified	Uncertain significance (Aug 13, 2021)
16-28156468-T-A		not specified	Uncertain significance (Sep 27, 2021)
16-28166511-T-A		not specified	Uncertain significance (Apr 25, 2022)
16-28166525-G-A		not specified	Uncertain significance (Aug 16, 2021)
16-28166565-C-T		not specified	Uncertain significance (Dec 28, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
XPO6	protein_coding	protein_coding	ENST00000304658	24	113942

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.00	3.77e-9	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	3.48	396	645	0.614	0.0000375	7384
Missense in Polyphen		57	159.98	0.3563		1995
Synonymous	-0.182	268	264	1.01	0.0000159	2201
Loss of Function	6.92	1	57.8	0.0173	0.00000295	659

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: Mediates the nuclear export of actin and profilin-actin complexes in somatic cells. {ECO:0000269|PubMed:14592989}.
• Pathway: Purine metabolism (Consensus)

Recessive Scores

• pRec: 0.110

Intolerance Scores

• loftool: 0.106
• rvis_EVS: -0.75
• rvis_percentile_EVS: 13.71

Haploinsufficiency Scores

• pHI: 0.202
• hipred: Y
• hipred_score: 0.786
• ghis: 0.567

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.840

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Xpo6

Gene ontology

• Biological process: protein export from nucleus
• Cellular component: nucleus;nucleolus;cytoplasm;cytosol;plasma membrane;protein-containing complex
• Molecular function: protein binding;Ran GTPase binding;protein transporter activity