RAB11FIP1

Chr 8

RAB11 family interacting protein 1

Also known as: NOEL1A, RCP, rab11-FIP1

NCBI Gene: 80223 ENSG00000156675 UniProt: Q6WKZ4 OMIM: 608737

This gene encodes one of the Rab11-family interacting proteins (Rab11-FIPs), which play a role in the Rab-11 mediated recycling of vesicles. The encoded protein may be involved in endocytic sorting, trafficking of proteins including integrin subunits and epidermal growth factor receptor (EGFR), and transport between the recycling endosome and the trans-Golgi network. Alternative splicing results in multiple transcript variants. A pseudogene is described on the X chromosome. [provided by RefSeq, Dec 2013]

OMIM Research

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.87

LOEUF

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

0.87LOEUF

pLI 0.000

Z-score 2.19

OE 0.61 (0.43–0.87)

Tolerant

Typical tolerance to LoF variation

Missense Constraint?

0.66Z-score

OE missense 0.93 (0.87–0.99)

647 obs / 696.4 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.61 (0.43–0.87)

0≤0.351.4

Missense OE?0.93 (0.87–0.99)

0≤0.61.4

Synonymous OE?1.05

0≤1.21.6

LoF obs/exp: 22 / 36.3Missense obs/exp: 647 / 696.4Syn Z: -0.67

Background carrier burden — how many people carry a rare variant somewhere in RAB11FIP1?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 35

1,655 rare PASS variants

Rare truncating (LoF)

1 in 920

160 rare PASS variants

Rare synonymous (reference)

1 in 73

710 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for RAB11FIP1. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 45	1 in 1,200
South Asian	~43k	1 in 31	1 in 680
Remaining (unassigned)	~30k	1 in 28	1 in 1,900
European (Finnish)	~27k	1 in 82	1 in 680
Admixed American	~22k	1 in 36	1 in 1,000
African / African American	~21k	1 in 26	1 in 330
East Asian	~20k	1 in 30	1 in 640
Ashkenazi Jewish	~13k	1 in 89	≈ 1 in 11,000
Middle Eastern	~2,884	1 in 23	≈ 1 in 960

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): 5 of 6 coding exons well covered in gnomAD exomes; exon 5 marginal. Genomes: all 6.? see exons ↓