RAB37

RAB37, member RAS oncogene family, the group of RAB, member RAS oncogene GTPases

Basic information

Region (hg38): 17:74670577-74747335

Links

ENSG00000172794 ∙ NCBI:326624 ∙ OMIM:609956 ∙ HGNC:30268 ∙ Uniprot:Q96AX2 ∙ 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 RAB37 gene.

• Inborn genetic diseases (11 variants)
• not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RAB37 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			9	2		11
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	9	3	0

Variants in RAB37

This is a list of pathogenic ClinVar variants found in the RAB37 region.

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

Position	Type	Phenotype	Significance	ClinVar
17-74695146-C-T		not specified	Likely benign (Dec 23, 2022)
17-74695151-A-G		not specified	Uncertain significance (Mar 01, 2023)
17-74695223-T-C		not specified	Uncertain significance (Sep 15, 2021)
17-74695777-G-A		not specified	Uncertain significance (Jul 06, 2021)
17-74695838-C-T		not specified	Uncertain significance (Aug 09, 2021)
17-74698468-T-G		not specified	Uncertain significance (Dec 05, 2022)
17-74698475-C-G		not specified	Likely benign (Nov 22, 2023)
17-74698480-G-A		not specified	Uncertain significance (Sep 22, 2023)
17-74703054-C-T		not specified	Likely benign (Oct 17, 2023)
17-74704537-C-T		not specified	Uncertain significance (Dec 13, 2023)
17-74704590-C-A			Likely benign (Mar 01, 2023)
17-74704591-G-A		not specified	Uncertain significance (May 16, 2022)
17-74704624-C-G		not specified	Uncertain significance (Jan 26, 2022)
17-74704688-T-G		not specified	Uncertain significance (Sep 27, 2021)
17-74704696-C-T		not specified	Uncertain significance (Jan 08, 2024)
17-74704729-G-A		not specified	Uncertain significance (Jan 11, 2023)
17-74704750-G-A		not specified	Uncertain significance (Sep 01, 2021)
17-74704787-G-A		not specified	Uncertain significance (Feb 28, 2024)
17-74737034-G-A		not specified	Uncertain significance (Sep 01, 2021)
17-74737035-G-A		not specified	Likely benign (Aug 02, 2022)
17-74737037-G-A		not specified	Uncertain significance (Oct 26, 2022)
17-74737097-G-A		not specified	Uncertain significance (Feb 14, 2023)
17-74740771-A-T		not specified	Uncertain significance (Jan 16, 2024)
17-74740775-T-C		not specified	Uncertain significance (May 09, 2023)
17-74740860-C-G			Likely benign (Mar 01, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RAB37	protein_coding	protein_coding	ENST00000392614	9	76758

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
8.11e-8	0.296	125724	0	24	125748	0.0000954

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.468	156	140	1.11	0.00000789	1488
Missense in Polyphen		45	45.503	0.98894		506
Synonymous	-0.177	61	59.3	1.03	0.00000377	436
Loss of Function	0.509	12	14.1	0.853	6.85e-7	158

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000181	0.000181
Ashkenazi Jewish	0.00	0.00
East Asian	0.000163	0.000163
Finnish	0.00	0.00
European (Non-Finnish)	0.000106	0.000105
Middle Eastern	0.000163	0.000163
South Asian	0.000163	0.000163
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Pathway: Neutrophil degranulation;Post-translational protein modification;Metabolism of proteins;Innate Immune System;Immune System;RAB geranylgeranylation (Consensus)

Recessive Scores

• pRec: 0.118

Intolerance Scores

• loftool: 0.481
• rvis_EVS: 0.04
• rvis_percentile_EVS: 57.15

Haploinsufficiency Scores

• pHI: 0.0819
• hipred: N
• hipred_score: 0.238
• ghis: 0.534

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• 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: Rab37

Gene ontology

• Biological process: intracellular protein transport;Rab protein signal transduction;neutrophil degranulation
• Cellular component: endoplasmic reticulum-Golgi intermediate compartment;plasma membrane;azurophil granule membrane;specific granule membrane
• Molecular function: GTPase activity;protein binding;GTP binding