RAB11FIP5

RAB11 family interacting protein 5, the group of C2 domain containing|RAB11 binding domain containing

Basic information

Region (hg38): 2:73073381-73156721

Links

ENSG00000135631 ∙ NCBI:26056 ∙ OMIM:605536 ∙ HGNC:24845 ∙ Uniprot:Q9BXF6 ∙ 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 RAB11FIP5 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RAB11FIP5 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				13	1	14
missense			48	6	3	57
nonsense						0
start loss						0
frameshift						0
inframe indel				1		1
splice donor/acceptor (+/-2bp)						0
splice region					1	1
non coding						0
Total	0	0	48	20	4

Variants in RAB11FIP5

This is a list of pathogenic ClinVar variants found in the RAB11FIP5 region.

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

Position	Type	Phenotype	Significance	ClinVar
2-73075528-G-C		not specified	Uncertain significance (Nov 17, 2022)
2-73075530-G-A		RAB11FIP5-related disorder	Likely benign (Oct 04, 2019)
2-73075533-G-A		RAB11FIP5-related disorder	Benign/Likely benign (Apr 26, 2019)
2-73075533-G-C		RAB11FIP5-related disorder	Likely benign (Jul 01, 2019)
2-73075534-C-A		not specified	Uncertain significance (Nov 09, 2023)
2-73075587-C-T			Likely benign (Jan 12, 2018)
2-73075623-G-A			Benign (Jun 13, 2018)
2-73075627-C-T			not provided (-)
2-73075628-G-A		not specified	Uncertain significance (Dec 28, 2022)
2-73075642-C-T		RAB11FIP5-related disorder	Likely benign (Feb 03, 2020)
2-73075677-G-A			Likely benign (Aug 14, 2017)
2-73076133-C-T		not specified	Uncertain significance (Jan 31, 2024)
2-73076154-C-T		not specified	Uncertain significance (May 15, 2024)
2-73076172-C-T			Likely benign (Oct 02, 2018)
2-73088042-C-T			Benign (Dec 31, 2019)
2-73088060-G-T		not specified	Uncertain significance (May 05, 2023)
2-73088065-G-A		not specified	Uncertain significance (Feb 07, 2023)
2-73088140-G-A			Benign (Dec 31, 2019)
2-73088164-T-C		not specified	Uncertain significance (Aug 30, 2022)
2-73088176-C-T		not specified	Uncertain significance (Sep 01, 2021)
2-73088179-C-T		not specified	Uncertain significance (Jan 06, 2023)
2-73088183-G-A		RAB11FIP5-related disorder	Likely benign (May 20, 2022)
2-73088197-C-T		not specified	Uncertain significance (Jul 26, 2022)
2-73088238-G-A		RAB11FIP5-related disorder	Likely benign (Aug 22, 2019)
2-73088257-C-T		not specified	Uncertain significance (Jan 29, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RAB11FIP5	protein_coding	protein_coding	ENST00000258098	5	83340

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00146	0.992	125730	0	17	125747	0.0000676

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.702	349	388	0.900	0.0000233	4163
Missense in Polyphen		114	146.95	0.77575		1569
Synonymous	-0.262	169	165	1.03	0.00000966	1401
Loss of Function	2.40	8	19.4	0.412	0.00000100	231

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000146	0.000146
Ashkenazi Jewish	0.00	0.00
East Asian	0.000164	0.000163
Finnish	0.00	0.00
European (Non-Finnish)	0.0000619	0.0000615
Middle Eastern	0.000164	0.000163
South Asian	0.0000653	0.0000653
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Rab effector involved in protein trafficking from apical recycling endosomes to the apical plasma membrane. Involved in insulin granule exocytosis. May regulate V-ATPase intracellular transport in response to extracellular acidosis. {ECO:0000269|PubMed:11163216, ECO:0000269|PubMed:20717956}.
• Pathway: Endocytosis - Homo sapiens (human) (Consensus)

Recessive Scores

• pRec: 0.233

Intolerance Scores

• loftool: 0.661
• rvis_EVS: -0.89
• rvis_percentile_EVS: 10.43

Haploinsufficiency Scores

• pHI: 0.292
• hipred: N
• hipred_score: 0.387
• ghis: 0.541

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.631

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Rab11fip5
• Phenotype: renal/urinary system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); normal phenotype; growth/size/body region phenotype; homeostasis/metabolism phenotype; adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan)

Gene ontology

• Biological process: insulin secretion involved in cellular response to glucose stimulus;regulated exocytosis;negative regulation of adiponectin secretion;cellular response to acidic pH;regulation of protein localization to cell surface
• Cellular component: Golgi membrane;mitochondrial outer membrane;early endosome;Golgi apparatus;microtubule organizing center;secretory granule;transport vesicle membrane;early endosome membrane;intracellular membrane-bounded organelle;recycling endosome;recycling endosome membrane
• Molecular function: protein binding;Rab GTPase binding;gamma-tubulin binding