RAB27B

RAB27B, member RAS oncogene family, the group of RAB, member RAS oncogene GTPases

Basic information

Region (hg38): 18:54717859-54895516

Links

ENSG00000041353 ∙ NCBI:5874 ∙ OMIM:603869 ∙ HGNC:9767 ∙ Uniprot:O00194 ∙ 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 RAB27B gene.

• Inborn genetic diseases (8 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RAB27B 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			7	1		8
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	7	1	0

Variants in RAB27B

This is a list of pathogenic ClinVar variants found in the RAB27B region.

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

Position	Type	Phenotype	Significance	ClinVar
18-54887998-A-G		not specified	Uncertain significance (Aug 28, 2023)
18-54888093-G-A		not specified	Uncertain significance (Apr 22, 2022)
18-54888097-G-T		not specified	Uncertain significance (Mar 23, 2022)
18-54888110-C-A		not specified	Likely benign (Sep 16, 2021)
18-54888117-G-A		not specified	Uncertain significance (May 16, 2023)
18-54889252-A-G		not specified	Uncertain significance (Jun 23, 2021)
18-54889330-A-G		not specified	Uncertain significance (Nov 30, 2021)
18-54889339-C-T		not specified	Uncertain significance (May 08, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RAB27B	protein_coding	protein_coding	ENST00000262094	5	177657

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0387	0.933	125714	0	12	125726	0.0000477

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.176	115	120	0.955	0.00000644	1432
Missense in Polyphen		44	54.717	0.80414		650
Synonymous	-2.05	60	42.9	1.40	0.00000223	404
Loss of Function	1.89	4	10.7	0.374	5.34e-7	130

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000292	0.0000292
Ashkenazi Jewish	0.00	0.00
East Asian	0.000109	0.000109
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.0000530	0.0000528
Middle Eastern	0.000109	0.000109
South Asian	0.0000654	0.0000653
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Plays a role in NTRK2/TRKB axonal anterograde transport by facilitating the associaton of NTRK2/TRKB with KLC1 (PubMed:21775604). May be involved in targeting uroplakins to urothelial apical membranes (By similarity). {ECO:0000250|UniProtKB:Q8HZJ5, ECO:0000269|PubMed:21775604}.
• Pathway: Pancreatic secretion - Homo sapiens (human);miR-targeted genes in lymphocytes - TarBase;miR-targeted genes in muscle cell - TarBase;Deregulation of Rab and Rab Effector Genes in Bladder Cancer;Vesicle-mediated transport;Membrane Trafficking;Post-translational protein modification;Metabolism of proteins;Platelet degranulation ;Response to elevated platelet cytosolic Ca2+;Platelet activation, signaling and aggregation;Hemostasis;Rab regulation of trafficking;RAB GEFs exchange GTP for GDP on RABs;RAB geranylgeranylation (Consensus)

Recessive Scores

• pRec: 0.153

Intolerance Scores

• loftool: 0.379
• rvis_EVS: 0.24
• rvis_percentile_EVS: 68.98

Haploinsufficiency Scores

• pHI: 0.278
• hipred: Y
• hipred_score: 0.616
• ghis: 0.466

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.539

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Rab27b
• Phenotype: endocrine/exocrine gland phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); homeostasis/metabolism phenotype; respiratory system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); pigmentation phenotype; reproductive system phenotype; normal phenotype; hematopoietic system phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan)

Gene ontology

• Biological process: platelet degranulation;intracellular protein transport;melanosome transport;Rab protein signal transduction;positive regulation of exocytosis;synaptic vesicle endocytosis;multivesicular body sorting pathway;anterograde axonal protein transport
• Cellular component: Golgi apparatus;Golgi stack;plasma membrane;apical plasma membrane;trans-Golgi network transport vesicle;secretory granule;platelet dense granule membrane;multivesicular body membrane;melanosome;zymogen granule membrane;extracellular exosome;anchored component of synaptic vesicle membrane;axon cytoplasm
• Molecular function: GTPase activity;protein binding;GTP binding;GDP binding;protein domain specific binding;myosin V binding