RAB37

protein-coding

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

Gene summary

Rab proteins are low molecular mass GTPases that are critical regulators of vesicle trafficking. For additional background information on Rab proteins, see MIM 179508.[supplied by OMIM, Apr 2006]

MANE transcript

NM_001006638.3

Inheritance

—

ClinVar variants

U:36B:4

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.85

Max pathogenic AF

—

Genomic locus

chr17:74,670,578-74,747,335

External References & Databases

Ensembl (ENSG00000172794)

Transcript & Mutation Effects

hg38 • Region Span ~76.8 kb

Loading mutation effect viewer...

GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to RAB37 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 36

not providedTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001006638.3. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			1 clinvar	1 clinvar		2
missense			35 clinvar	3 clinvar		38
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	36	4	0	40

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 23 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001006638.3	RefSeq	NP_001006639.1	9	MANE Select
ENST00000392613.10	Ensembl	ENSP00000376389.5	9	MANE Select
NM_001163989.3	RefSeq	NP_001157461.2	8	Standard
NM_001163990.2	RefSeq	NP_001157462.1	8	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Neutrophil degranulation
Post-translational protein modification
Metabolism of proteins
Innate Immune System
Immune System

Biological Process

intracellular protein transport
Rab protein signal transduction
neutrophil degranulation

Molecular Function

GTPase activity
protein binding
GTP binding

Cellular Component

endoplasmic reticulum-Golgi intermediate compartment
plasma membrane
azurophil granule membrane
specific granule membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000392614
Coding exons: 9
Length: 76758
Individuals with no LoFs: 125724
Homozygous LoFs: 0
Heterozygous LoFs: 24
Defined: 125748
p: 0.0000954

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.468	156	140	1.11	0.00000789	1488
Missense (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

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00012	0.00012	rare
Latino/Admixed American	0.000058	0.000058	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00016	0.00016	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.00011	0.00011	rare
South Asian	0.00016	0.00016	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Recessive Scores

pRec: 0.118

Intolerance Scores

LoFtool: 0.481
RVIS EVS: 0.04
RVIS percentile EVS: 57.15

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.955

Gene Damage Prediction

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