XPO5

exportin 5, the group of Exportins

Basic information

Region (hg38): 6:43522333-43576038

Links

ENSG00000124571 ∙ NCBI:57510 ∙ OMIM:607845 ∙ HGNC:17675 ∙ Uniprot:Q9HAV4 ∙ 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 XPO5 gene.

• not provided (215 variants)
• Inborn genetic diseases (32 variants)
• XPO5-related condition (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the XPO5 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	26	5	32
missense			59	9	3	71
nonsense			1			1
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region			6	7	1	14
non coding				56	70	126
Total	0	0	61	91	78

Variants in XPO5

This is a list of pathogenic ClinVar variants found in the XPO5 region.

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

Position	Type	Phenotype	Significance	ClinVar
6-43523597-T-C			Benign (Jul 10, 2018)
6-43523703-C-T			Benign (Oct 27, 2018)
6-43523908-T-C		not specified	Uncertain significance (Jul 09, 2021)
6-43523952-T-C		XPO5-related disorder	Likely benign (Jan 12, 2024)
6-43523969-T-C			Uncertain significance (Dec 02, 2022)
6-43523999-A-G			Likely benign (Oct 17, 2023)
6-43524020-T-G			Benign (Sep 06, 2023)
6-43524025-A-G			Likely benign (Jan 16, 2024)
6-43524307-G-A			Likely benign (Feb 04, 2019)
6-43524352-CA-C			Benign (Aug 20, 2019)
6-43524352-C-CA			Likely benign (Aug 20, 2019)
6-43524460-G-A			Likely benign (Nov 27, 2023)
6-43524501-T-A		XPO5-related disorder	Conflicting classifications of pathogenicity (Nov 23, 2023)
6-43524532-T-G			Uncertain significance (Dec 28, 2023)
6-43524615-T-C			Uncertain significance (Nov 27, 2023)
6-43524639-A-T		XPO5-related disorder	Likely benign (Oct 22, 2023)
6-43524650-G-C			Likely benign (Apr 11, 2022)
6-43524732-AT-A			Benign (Oct 27, 2018)
6-43524804-T-TCCTTCCCCCATG			Benign (Jul 10, 2018)
6-43524814-A-G			Likely benign (Aug 27, 2021)
6-43524813-C-CAT			Benign (Jan 30, 2024)
6-43524840-G-A			Benign (Jan 31, 2024)
6-43524857-G-A			Likely benign (Aug 19, 2023)
6-43524875-T-C		not specified	Uncertain significance (Oct 27, 2023)
6-43524898-A-T		XPO5-related disorder	Uncertain significance (Aug 14, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
XPO5	protein_coding	protein_coding	ENST00000265351	32	53741

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.00	0.000290	124972	0	25	124997	0.000100

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	3.11	422	644	0.655	0.0000333	7897
Missense in Polyphen		68	169.07	0.40221		2074
Synonymous	-0.625	245	233	1.05	0.0000122	2290
Loss of Function	6.65	11	71.8	0.153	0.00000410	804

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000582	0.000571
Ashkenazi Jewish	0.000207	0.000199
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.000109	0.000106
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 proteins bearing a double-stranded RNA binding domain (dsRBD) and double-stranded RNAs (cargos). XPO5 in the nucleus binds cooperatively to the RNA and to the GTPase Ran in its active GTP-bound form. Proteins containing dsRBDs can associate with this trimeric complex through the RNA. Docking of this complex to the nuclear pore complex (NPC) is mediated through binding to nucleoporins. Upon transit of a nuclear export complex into the cytoplasm, hydrolysis of Ran-GTP to Ran-GDP (induced by RANBP1 and RANGAP1, respectively) cause disassembly of the complex and release of the cargo from the export receptor. XPO5 then returns to the nuclear compartment by diffusion through the nuclear pore complex, to mediate another round of transport. The directionality of nuclear export is thought to be conferred by an asymmetric distribution of the GTP- and GDP-bound forms of Ran between the cytoplasm and nucleus. Overexpression may in some circumstances enhance RNA-mediated gene silencing (RNAi). Mediates nuclear export of isoform 5 of ADAR/ADAR1 in a RanGTP-dependent manner.; FUNCTION: (Microbial infection) Mediates the nuclear export of adenovirus VA1 dsRNA. {ECO:0000269|PubMed:12509441}.
• Pathway: RNA transport - Homo sapiens (human);miRNA Biogenesis;RNA interference;Gene expression (Transcription);MicroRNA (miRNA) biogenesis;Gene Silencing by RNA (Consensus)

Recessive Scores

• pRec: 0.235

Intolerance Scores

• rvis_EVS: -0.82
• rvis_percentile_EVS: 12.01

Haploinsufficiency Scores

• pHI: 0.865
• hipred: Y
• hipred_score: 0.825
• ghis: 0.645

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: E
• essential_gene_gene_trap: E
• gene_indispensability_pred: E
• gene_indispensability_score: 0.982

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Xpo5

Gene ontology

• Biological process: protein export from nucleus;miRNA metabolic process;pre-miRNA export from nucleus;regulation of protein export from nucleus;positive regulation of RNA interference
• Cellular component: nucleus;nucleoplasm;cytoplasm;cytosol;micro-ribonucleoprotein complex;nuclear RNA export factor complex;RNA nuclear export complex
• Molecular function: tRNA binding;RNA binding;mRNA binding;nuclear export signal receptor activity;protein binding;Ran GTPase binding;protein transporter activity;pre-miRNA binding