RAB11FIP5

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

Basic information

Region (hg38): 2:73073382-73156721

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.

not_specified (102 variants)
not_provided (16 variants)
RAB11FIP5-related_disorder (13 variants)

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. These statistics are base on transcript: NM_001371272.1. Only rare variants are included in the table.

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.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous				12 clinvar	3 clinvar	15
missense			100 clinvar	9 clinvar	3 clinvar	112
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			2 clinvar			2
Total	0	0	102	21	6

Loading clinvar variants...

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