IPO7

importin 7, the group of Small nucleolar RNA protein coding host genes|Importins

Basic information

Region (hg38): 11:9384652-9448127

Previous symbols: [ "RANBP7" ]

Links

ENSG00000205339 ∙ NCBI:10527 ∙ OMIM:605586 ∙ HGNC:9852 ∙ Uniprot:O95373 ∙ 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 IPO7 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the IPO7 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			36			36
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	36	0	0

Variants in IPO7

This is a list of pathogenic ClinVar variants found in the IPO7 region.

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

Position	Type	Phenotype	Significance	ClinVar
11-9403299-T-G		not specified	Uncertain significance (Nov 06, 2023)
11-9408508-G-A		not specified	Uncertain significance (Aug 08, 2023)
11-9408537-C-T		not specified	Uncertain significance (Aug 21, 2023)
11-9408546-G-T		not specified	Uncertain significance (Sep 11, 2024)
11-9408558-C-T		not specified	Uncertain significance (Dec 15, 2023)
11-9408594-G-A		not specified	Uncertain significance (Aug 28, 2024)
11-9408602-A-G		not specified	Uncertain significance (Dec 04, 2024)
11-9408605-G-T		not specified	Uncertain significance (May 01, 2022)
11-9409928-G-A		not specified	Likely benign (Nov 26, 2024)
11-9409981-G-A		not specified	Uncertain significance (May 20, 2024)
11-9410013-T-A		not specified	Uncertain significance (Sep 01, 2021)
11-9410032-G-A		not specified	Uncertain significance (Nov 08, 2024)
11-9417099-C-G		not specified	Uncertain significance (Oct 05, 2021)
11-9420483-A-G		not specified	Uncertain significance (Nov 21, 2022)
11-9423049-T-G		not specified	Uncertain significance (Nov 06, 2023)
11-9423792-G-A		not specified	Uncertain significance (Apr 26, 2024)
11-9423823-C-G		not specified	Uncertain significance (Sep 26, 2022)
11-9424941-C-T		not specified	Uncertain significance (Sep 10, 2024)
11-9425191-C-G		not specified	Uncertain significance (Dec 07, 2024)
11-9425201-A-G		not specified	Uncertain significance (Mar 31, 2024)
11-9425240-C-G		not specified	Uncertain significance (Jan 02, 2024)
11-9428590-C-G		not specified	Uncertain significance (Jan 04, 2024)
11-9428601-G-A		not specified	Uncertain significance (Jul 12, 2023)
11-9428603-A-G		not specified	Uncertain significance (Jul 25, 2023)
11-9429122-T-C		not specified	Uncertain significance (Jun 21, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
IPO7	protein_coding	protein_coding	ENST00000379719	25	63505

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.00	9.93e-9	125664	0	4	125668	0.0000159

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	3.53	306	536	0.571	0.0000256	6909
Missense in Polyphen		57	145.48	0.3918		1963
Synonymous	-0.721	192	180	1.07	0.00000868	1850
Loss of Function	6.92	2	59.6	0.0335	0.00000287	721

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000674	0.0000615
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000181	0.0000176
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.000167	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Functions in nuclear protein import, either by acting as autonomous nuclear transport receptor or as an adapter-like protein in association with the importin-beta subunit KPNB1. Acting autonomously, is thought to serve itself as receptor for nuclear localization signals (NLS) and to promote translocation of import substrates through the nuclear pore complex (NPC) by an energy requiring, Ran-dependent mechanism. At the nucleoplasmic side of the NPC, Ran binds to importin, the importin/substrate complex dissociates and importin is re-exported from the nucleus to the cytoplasm where GTP hydrolysis releases Ran. 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. Mediates autonomously the nuclear import of ribosomal proteins RPL23A, RPS7 and RPL5. Binds to a beta-like import receptor binding (BIB) domain of RPL23A. In association with KPNB1 mediates the nuclear import of H1 histone and the Ran-binding site of IPO7 is not required but synergizes with that of KPNB1 in importin/substrate complex dissociation. In vitro, mediates nuclear import of H2A, H2B, H3 and H4 histones. {ECO:0000269|PubMed:10228156, ECO:0000269|PubMed:9687515}.

Recessive Scores

• pRec: 0.286

Intolerance Scores

• loftool: 0.0305
• rvis_EVS: -0.71
• rvis_percentile_EVS: 14.5

Haploinsufficiency Scores

• pHI: 0.849
• hipred: Y
• hipred_score: 0.739
• ghis: 0.631

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: E
• essential_gene_gene_trap: E
• gene_indispensability_pred: E
• gene_indispensability_score: 0.955

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ipo7

Gene ontology

• Biological process: protein import into nucleus;signal transduction;viral process;innate immune response;negative regulation of cyclin-dependent protein serine/threonine kinase activity
• Cellular component: nuclear envelope;nuclear pore;nucleoplasm;cytosol;membrane
• Molecular function: transporter activity;protein binding;Ran GTPase binding;protein transporter activity;GTPase regulator activity;histone binding;SMAD binding