RAB36

RAB36, member RAS oncogene family, the group of RAB, member RAS oncogene GTPases

Basic information

Region (hg38): 22:23145365-23165663

Links

ENSG00000100228 ∙ NCBI:9609 ∙ OMIM:605662 ∙ HGNC:9775 ∙ Uniprot:O95755 ∙ 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 RAB36 gene.

• Inborn genetic diseases (11 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RAB36 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			10			10
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			1			1
Total	0	0	11	0	0

Variants in RAB36

This is a list of pathogenic ClinVar variants found in the RAB36 region.

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

Position	Type	Phenotype	Significance	ClinVar
22-23145402-G-T		not specified	Likely benign (Oct 17, 2023)
22-23145510-G-A		not specified	Uncertain significance (Dec 18, 2023)
22-23145523-C-T		not specified	Uncertain significance (Sep 12, 2023)
22-23150120-G-A		not specified	Uncertain significance (Dec 11, 2023)
22-23150153-G-A		not specified	Uncertain significance (Mar 04, 2024)
22-23152480-G-A		not specified	Uncertain significance (Dec 13, 2022)
22-23152501-G-A		not specified	Uncertain significance (Aug 12, 2021)
22-23153041-A-G		not specified	Uncertain significance (Aug 02, 2021)
22-23153082-G-A		not specified	Uncertain significance (Feb 28, 2024)
22-23156020-C-T		not specified	Uncertain significance (Feb 08, 2023)
22-23158021-G-A		not specified	Uncertain significance (Mar 06, 2023)
22-23158939-C-T		not specified	Uncertain significance (Jul 13, 2021)
22-23160881-G-A		not specified	Uncertain significance (Feb 06, 2023)
22-23160905-C-T		not specified	Uncertain significance (Apr 25, 2022)
22-23160908-G-A		not specified	Uncertain significance (Dec 28, 2022)
22-23160923-T-C		not specified	Uncertain significance (May 04, 2022)
22-23160995-A-C		not specified	Uncertain significance (Nov 02, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RAB36	protein_coding	protein_coding	ENST00000263116	11	19025

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.65e-10	0.214	125635	0	113	125748	0.000449

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.788	181	213	0.848	0.0000126	2139
Missense in Polyphen		72	80.679	0.89242		806
Synonymous	-0.836	103	92.8	1.11	0.00000625	663
Loss of Function	0.700	17	20.4	0.833	0.00000104	215

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00118	0.00115
Ashkenazi Jewish	0.000199	0.000198
East Asian	0.00153	0.00152
Finnish	0.00	0.00
European (Non-Finnish)	0.000403	0.000387
Middle Eastern	0.00153	0.00152
South Asian	0.000370	0.000359
Other	0.000831	0.000815

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Protein transport. Probably involved in vesicular traffic (By similarity). {ECO:0000250}.
• Pathway: Vesicle-mediated transport;Membrane Trafficking;Post-translational protein modification;Metabolism of proteins;Intra-Golgi traffic;RAB geranylgeranylation;Intra-Golgi and retrograde Golgi-to-ER traffic (Consensus)

Recessive Scores

• pRec: 0.110

Intolerance Scores

• loftool: 0.734
• rvis_EVS: 0.62
• rvis_percentile_EVS: 83.42

Haploinsufficiency Scores

• pHI: 0.0503
• hipred: N
• hipred_score: 0.208
• ghis: 0.441

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 1.00

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Rab36
• Phenotype: hematopoietic system phenotype; growth/size/body region phenotype; homeostasis/metabolism phenotype

Gene ontology

• Biological process: intracellular protein transport;Rab protein signal transduction
• Cellular component: Golgi membrane;Golgi apparatus
• Molecular function: GTPase activity;GTP binding