RAB11FIP1

RAB11 family interacting protein 1, the group of RAB11 binding domain containing|C2 domain containing

Basic information

Region (hg38): 8:37858618-37899497

Links

ENSG00000156675 ∙ NCBI:80223 ∙ OMIM:608737 ∙ HGNC:30265 ∙ Uniprot:Q6WKZ4 ∙ 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 RAB11FIP1 gene.

• not_specified (166 variants)
• not_provided (10 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RAB11FIP1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001002814.3. 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	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				3	5	8
missense			154	10	2	166
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	154	13	7

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RAB11FIP1	protein_coding	protein_coding	ENST00000330843	6	40850

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
7.33e-11	0.966	125736	0	12	125748	0.0000477

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.665	647	696	0.929	0.0000370	8289
Missense in Polyphen		170	217.56	0.78139		2743
Synonymous	-0.668	316	301	1.05	0.0000186	2703
Loss of Function	2.19	22	36.3	0.607	0.00000190	476

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.0000954	0.0000924
European (Non-Finnish)	0.0000814	0.0000791
Middle Eastern	0.0000544	0.0000544
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: A Rab11 effector protein involved in the endosomal recycling process. Also involved in controlling membrane trafficking along the phagocytic pathway and in phagocytosis. {ECO:0000269|PubMed:11786538, ECO:0000269|PubMed:15181150, ECO:0000269|PubMed:15355514, ECO:0000269|PubMed:16920206}.
• Pathway: Endocytosis - Homo sapiens (human) (Consensus)

Recessive Scores

• pRec: 0.0998

Intolerance Scores

• loftool: 0.728
• rvis_EVS: 1.42
• rvis_percentile_EVS: 94.85

Haploinsufficiency Scores

• pHI: 0.152
• hipred: N
• hipred_score: 0.172
• ghis: 0.398

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.676

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Rab11fip1
• Phenotype: neoplasm

Gene ontology

• Biological process: protein transport;regulated exocytosis;negative regulation of adiponectin secretion
• Cellular component: cytosol;phagocytic vesicle membrane;intracellular membrane-bounded organelle;recycling endosome
• Molecular function: Rab GTPase binding