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RAB11FIP1

Synonyms
NOEL1A, RCP, rab11-FIP1
External resources
Summary
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.

Variant counts

Variant classification counts according to ACMG guideline on all identified variants among our tested samples are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
55
Likely pathogenic
0
VUS
4,078
Likely benign
263
Benign
0

Patient phenotypes

Proportions of phenotypes among 49 patients carring pathogenic or likely pathogenic variants on RAB11FIP1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
42.9%
Abnormality of the cardiovascular system
34.7%
Abnormality of the musculoskeletal system
24.5%
Abnormality of the eye
22.4%
Abnormality of the ear
18.4%
Abnormality of the integument
18.4%
Growth abnormality
16.3%
Abnormality of head or neck
14.3%
Abnormality of blood and blood-forming tissues
8.2%
Abnormality of limbs
8.2%
Abnormality of the genitourinary system
8.2%
Abnormality of the respiratory system
8.2%
Abnormality of prenatal development or birth
6.1%
Abnormality of the digestive system
6.1%
Abnormality of the endocrine system
6.1%
Abnormality of the immune system
6.1%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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