RAB14

RAB14, member RAS oncogene family, the group of RAB, member RAS oncogene GTPases

Basic information

Region (hg38): 9:121178133-121223014

Links

ENSG00000119396

∙ NCBI:51552 ∙ OMIM:612673 ∙ HGNC:16524 ∙ Uniprot:P61106 ∙ 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 RAB14 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RAB14 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					2 clinvar	2
missense			2 clinvar			2
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	2	0	2

Variants in RAB14

This is a list of pathogenic ClinVar variants found in the RAB14 region.

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

Position	Phenotype	Significance	ClinVar
9-121181400-C-G	not specified	Uncertain significance (Aug 23, 2021)	2246771
9-121181454-G-A	not specified	Uncertain significance (Dec 16, 2021)	2262518
9-121182941-C-T		Benign (Dec 03, 2018)	771735
9-121190583-C-T		Benign (Sep 14, 2018)	708724
9-121190638-G-A		Uncertain significance (-)	1206078

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RAB14	protein_coding	protein_coding	ENST00000373840	7	44878

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.990	0.00952	120788	0	9	120797	0.0000373

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.85	30	117	0.257	0.00000586	1408
Missense in Polyphen		3	46.053	0.065142		543
Synonymous	1.45	27	38.4	0.702	0.00000195	380
Loss of Function	3.46	0	14.0	0.00	7.67e-7	161

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000928	0.0000928
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.0000485	0.0000485
European (Non-Finnish)	0.0000362	0.0000362
Middle Eastern	0.00	0.00
South Asian	0.0000344	0.0000344
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Function: FUNCTION: Involved in membrane trafficking between the Golgi complex and endosomes during early embryonic development. Regulates the Golgi to endosome transport of FGFR-containing vesicles during early development, a key process for developing basement membrane and epiblast and primitive endoderm lineages during early postimplantation development. May act by modulating the kinesin KIF16B-cargo association to endosomes (By similarity). Regulates, together with its guanine nucleotide exchange factor DENND6A, the specific endocytic transport of ADAM10, N- cadherin/CDH2 shedding and cell-cell adhesion. {ECO:0000250, ECO:0000269|PubMed:22595670}.;
Pathway: AMPK signaling pathway - Homo sapiens (human);Focal Adhesion-PI3K-Akt-mTOR-signaling pathway;Neutrophil degranulation;Vesicle-mediated transport;Membrane Trafficking;Metabolism of lipids;Post-translational protein modification;Metabolism of proteins;Innate Immune System;Immune System;Metabolism;Rab regulation of trafficking;Synthesis of PIPs at the plasma membrane;PI Metabolism;Phospholipid metabolism;RAB GEFs exchange GTP for GDP on RABs;RAB geranylgeranylation;Translocation of GLUT4 to the plasma membrane (Consensus)

Recessive Scores

pRec: 0.163

Intolerance Scores

loftool
rvis_EVS: -0.01
rvis_percentile_EVS: 52.85

Haploinsufficiency Scores

pHI: 0.131
hipred: Y
hipred_score: 0.728
ghis: 0.688

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: S
essential_gene_gene_trap: N
gene_indispensability_pred: E
gene_indispensability_score: 0.988

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Low	Low	Low
Primary Immunodeficiency	Low	Low	Low
Cancer	Low	Low	Low

Mouse Genome Informatics

Gene name: Rab14
Phenotype

Gene ontology

Biological process: phosphatidylinositol biosynthetic process;intracellular protein transport;Golgi to endosome transport;fibroblast growth factor receptor signaling pathway;vesicle-mediated transport;endocytic recycling;Rab protein signal transduction;regulation of protein localization;defense response to bacterium;neutrophil degranulation;regulation of embryonic development;intracellular transport;phagolysosome assembly involved in apoptotic cell clearance
Cellular component: Golgi membrane;lysosome;lysosomal membrane;early endosome;late endosome;rough endoplasmic reticulum;Golgi stack;trans-Golgi network;cytosol;plasma membrane;cilium;trans-Golgi network transport vesicle;early endosome membrane;nuclear outer membrane-endoplasmic reticulum membrane network;intracellular membrane-bounded organelle;phagocytic vesicle;perinuclear region of cytoplasm;recycling endosome;recycling endosome membrane;extracellular exosome;tertiary granule membrane
Molecular function: GTPase activity;protein binding;GTP binding;GDP binding;myosin V binding