RANBP17

RAN binding protein 17, the group of Armadillo like helical domain containing

Basic information

Region (hg38): 5:170861870-171300015

Links

ENSG00000204764 ∙ NCBI:64901 ∙ OMIM:606141 ∙ HGNC:14428 ∙ Uniprot:Q9H2T7 ∙ 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 RANBP17 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RANBP17 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	2	3
missense			75	8	4	87
nonsense			1			1
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region				1		1
non coding			1	2		3
Total	0	0	77	11	6

Variants in RANBP17

This is a list of pathogenic ClinVar variants found in the RANBP17 region.

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

Position	Type	Phenotype	Significance	ClinVar
5-170862025-C-A		RANBP17-related disorder	Likely benign (Jul 30, 2019)
5-170862032-A-G		RANBP17-related disorder	Likely benign (Mar 12, 2019)
5-170862043-C-T		not specified	Uncertain significance (Jul 12, 2022)
5-170862046-T-C		RANBP17-related disorder	Benign (May 24, 2019)
5-170878097-A-G		not specified	Uncertain significance (Apr 23, 2024)
5-170878138-A-G		not specified	Uncertain significance (Nov 22, 2021)
5-170878158-G-C		not specified	Uncertain significance (Feb 10, 2023)
5-170878239-G-A		RANBP17-related disorder	Uncertain significance (Oct 23, 2023)
5-170881813-A-G		not specified	Uncertain significance (May 10, 2024)
5-170881891-A-G		not specified	Uncertain significance (Mar 31, 2022)
5-170892402-A-G		RANBP17-related disorder	Likely benign (May 22, 2023)
5-170892420-C-T		not specified	Uncertain significance (Jun 29, 2023)
5-170892431-C-A		not specified	Uncertain significance (Aug 17, 2021)
5-170892552-A-G		not specified	Uncertain significance (Dec 01, 2022)
5-170896051-G-A		not specified	Uncertain significance (Sep 22, 2023)
5-170909677-C-G			Likely benign (Jul 01, 2023)
5-170909700-G-A		RANBP17-related disorder	Benign (Feb 20, 2019)
5-170909718-A-T		RANBP17-related disorder	Benign (Jul 23, 2019)
5-170909730-G-A		RANBP17-related disorder	Uncertain significance (Aug 22, 2023)
5-170909751-T-G		not specified	Uncertain significance (Oct 25, 2023)
5-170909760-A-G		not specified	Uncertain significance (Dec 12, 2023)
5-170911000-A-G		not specified	Uncertain significance (Jan 16, 2024)
5-170911066-T-C			Likely benign (Mar 01, 2023)
5-170911105-C-T		not specified	Uncertain significance (Feb 22, 2023)
5-170916526-G-T		not specified	Uncertain significance (Jun 17, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RANBP17	protein_coding	protein_coding	ENST00000523189	28	438146

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
7.17e-45	6.18e-8	125504	0	244	125748	0.000971

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-1.11	637	563	1.13	0.0000287	7118
Missense in Polyphen		190	163.82	1.1598		2218
Synonymous	0.938	185	202	0.916	0.0000103	2037
Loss of Function	-0.504	65	60.8	1.07	0.00000307	771

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00223	0.00221
Ashkenazi Jewish	0.000199	0.000198
East Asian	0.00116	0.00114
Finnish	0.000187	0.000185
European (Non-Finnish)	0.00106	0.00105
Middle Eastern	0.00116	0.00114
South Asian	0.00142	0.00141
Other	0.000677	0.000652

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May function as a nuclear transport receptor. {ECO:0000250}.

Intolerance Scores

• loftool: 0.995
• rvis_EVS: 0.12
• rvis_percentile_EVS: 62.23

Haploinsufficiency Scores

• pHI: 0.185
• hipred: N
• hipred_score: 0.242
• ghis: 0.504

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0945

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ranbp17

Gene ontology

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