RAB44

RAB44, member RAS oncogene family, the group of RAB, member RAS oncogene GTPases

Basic information

Region (hg38): 6:36697826-36733184

Previous symbols: [ "RASD3", "RASL13" ]

Links

ENSG00000255587 ∙ NCBI:401258 ∙ ∙ HGNC:21068 ∙ Uniprot:Q7Z6P3 ∙ 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 RAB44 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RAB44 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				1		1
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	0	2	0

Variants in RAB44

This is a list of pathogenic ClinVar variants found in the RAB44 region.

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

Position	Type	Phenotype	Significance	ClinVar
6-36722219-G-A			Likely benign (Oct 27, 2017)
6-36722466-T-C			Likely benign (Nov 01, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RAB44	protein_coding	protein_coding	ENST00000229824	11	16615

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00188	0.912	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.02	111	146	0.762	0.00000831	5801
Missense in Polyphen		38	56.227	0.67584		1569
Synonymous	1.33	47	60.2	0.781	0.00000358	1934
Loss of Function	1.50	6	11.5	0.523	5.73e-7	396

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
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: 0.0995

Haploinsufficiency Scores

• pHI: 0.169
• ghis: 0.486

Essentials

• gene_indispensability_pred: N
• gene_indispensability_score: 0.145

Mouse Genome Informatics

• Gene name: Rab44

Gene ontology

• Biological process: intracellular protein transport;Rab protein signal transduction;neutrophil degranulation
• Cellular component: plasma membrane;azurophil granule membrane;specific granule membrane
• Molecular function: GTPase activity;calcium ion binding;GTP binding