XPO7

exportin 7, the group of Exportins

Basic information

Region (hg38): 8:21919662-22006585

Previous symbols: [ "RANBP16" ]

Links

ENSG00000130227 ∙ NCBI:23039 ∙ OMIM:606140 ∙ HGNC:14108 ∙ Uniprot:Q9UIA9 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• prostate cancer (Limited), mode of inheritance: AD

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the XPO7 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the XPO7 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			20			20
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	20	0	1

Variants in XPO7

This is a list of pathogenic ClinVar variants found in the XPO7 region.

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

Position	Type	Phenotype	Significance	ClinVar
8-21969547-C-G		not specified	Uncertain significance (Jan 29, 2024)
8-21970188-A-G		not specified	Uncertain significance (Jun 19, 2024)
8-21970193-C-T			Benign (Apr 25, 2018)
8-21970282-C-T		not specified	Uncertain significance (Feb 28, 2024)
8-21974741-T-A		not specified	Uncertain significance (Jul 10, 2024)
8-21976387-A-G		not specified	Uncertain significance (Mar 08, 2024)
8-21980169-T-C		not specified	Uncertain significance (Dec 18, 2023)
8-21981826-C-G		not specified	Uncertain significance (Jan 03, 2024)
8-21984688-G-C		not specified	Uncertain significance (Nov 10, 2022)
8-21987173-G-A		not specified	Uncertain significance (Jan 04, 2024)
8-21987847-A-G		not specified	Uncertain significance (Aug 17, 2022)
8-21989040-A-G		not specified	Uncertain significance (Jun 02, 2023)
8-21990398-C-G		not specified	Uncertain significance (Dec 04, 2023)
8-21990819-C-G		not specified	Uncertain significance (Aug 27, 2024)
8-21990899-G-A		not specified	Uncertain significance (Jun 28, 2023)
8-21991949-A-G		not specified	Uncertain significance (Oct 09, 2024)
8-21994407-C-G		not specified	Uncertain significance (Sep 27, 2021)
8-21994426-A-C		not specified	Uncertain significance (Jan 06, 2023)
8-21994445-A-G		not specified	Uncertain significance (Nov 25, 2024)
8-21995526-A-G		not specified	Uncertain significance (Mar 29, 2022)
8-21995572-A-C		not specified	Uncertain significance (Nov 15, 2021)
8-21999163-T-G		not specified	Uncertain significance (Sep 08, 2024)
8-21999172-C-G		not specified	Uncertain significance (Mar 04, 2024)
8-21999614-C-G		not specified	Uncertain significance (Aug 02, 2021)
8-22005062-G-A		not specified	Uncertain significance (Jun 18, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
XPO7	protein_coding	protein_coding	ENST00000252512	28	86917

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.00	8.23e-9	124641	0	9	124650	0.0000361

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	4.82	262	592	0.443	0.0000325	7127
Missense in Polyphen		17	114.6	0.14835		1375
Synonymous	-1.27	253	229	1.11	0.0000126	2082
Loss of Function	7.10	3	64.6	0.0465	0.00000365	715

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000159	0.000158
Ashkenazi Jewish	0.0000994	0.0000994
East Asian	0.00	0.00
Finnish	0.0000928	0.0000928
European (Non-Finnish)	0.0000273	0.0000265
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 (cargos) with broad substrate specificity. In the nucleus binds cooperatively to its cargo and to the GTPase Ran in its active GTP-bound form. Docking of this trimeric complex to the nuclear pore complex (NPC) is mediated through binding to nucleoporins. Upon transit of a nuclear export complex into the cytoplasm, disassembling of the complex and hydrolysis of Ran-GTP to Ran-GDP (induced by RANBP1 and RANGAP1, respectively) cause release of the cargo from the export receptor. XPO7 then return to the nuclear compartment and 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. {ECO:0000269|PubMed:11024021, ECO:0000269|PubMed:15282546}.
• Pathway: Purine metabolism (Consensus)

Recessive Scores

• pRec: 0.106

Intolerance Scores

• loftool: 0.133
• rvis_EVS: -1.02
• rvis_percentile_EVS: 7.94

Haploinsufficiency Scores

• pHI: 0.128
• hipred: Y
• hipred_score: 0.662
• ghis: 0.676

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.896

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Xpo7

Gene ontology

• Biological process: protein export from nucleus;mRNA transport
• Cellular component: nucleus;nuclear pore;cytoplasm
• Molecular function: nuclear export signal receptor activity;protein binding;Ran GTPase binding