FLOT1

flotillin 1, the group of Flotillins

Basic information

Region (hg38): 6:30727709-30742732

Links

ENSG00000137312 ∙ NCBI:10211 ∙ OMIM:606998 ∙ HGNC:3757 ∙ Uniprot:O75955 ∙ 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 FLOT1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FLOT1 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						0
missense			19			19
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	19	0	0

Variants in FLOT1

This is a list of pathogenic ClinVar variants found in the FLOT1 region.

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

Position	Type	Phenotype	Significance	ClinVar
6-30728136-T-G		not specified	Uncertain significance (May 30, 2024)
6-30728145-C-A		not specified	Uncertain significance (Jun 23, 2023)
6-30730033-T-C		not specified	Uncertain significance (Jul 20, 2021)
6-30730469-C-T		not specified	Uncertain significance (Oct 12, 2022)
6-30730522-C-A		not specified	Uncertain significance (Jul 31, 2023)
6-30730547-C-T		not specified	Uncertain significance (Sep 22, 2021)
6-30730921-C-A		not specified	Uncertain significance (Dec 20, 2023)
6-30730941-C-T		not specified	Uncertain significance (Jun 25, 2024)
6-30730962-C-T		not specified	Uncertain significance (Nov 01, 2022)
6-30731049-C-T		not specified	Uncertain significance (Nov 21, 2022)
6-30740181-C-A		not specified	Uncertain significance (Nov 09, 2023)
6-30740189-C-T		not specified	Uncertain significance (Nov 05, 2021)
6-30740192-C-T		not specified	Uncertain significance (Mar 20, 2024)
6-30740205-C-T		not specified	Uncertain significance (Jun 03, 2022)
6-30740213-T-C		not specified	Uncertain significance (Oct 06, 2022)
6-30740247-C-A		not specified	Uncertain significance (Jul 26, 2022)
6-30740512-C-T		not specified	Uncertain significance (Sep 25, 2024)
6-30740536-C-T		not specified	Uncertain significance (May 31, 2023)
6-30740729-T-C		not specified	Uncertain significance (Oct 25, 2023)
6-30741269-G-A		not specified	Uncertain significance (Dec 14, 2022)
6-30741280-G-C		not specified	Uncertain significance (Mar 28, 2024)
6-30741294-C-T		not specified	Uncertain significance (Aug 12, 2024)
6-30741645-C-A		not specified	Uncertain significance (Oct 25, 2023)
6-30741843-A-C		not specified	Uncertain significance (Dec 07, 2021)
6-30741861-C-T		not specified	Uncertain significance (Mar 20, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FLOT1	protein_coding	protein_coding	ENST00000376389	12	15025

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.04e-8	0.927	125718	0	30	125748	0.000119

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.34	150	255	0.587	0.0000147	2768
Missense in Polyphen		31	73.978	0.41905		825
Synonymous	1.99	73	98.1	0.744	0.00000576	849
Loss of Function	1.87	17	27.6	0.617	0.00000156	288

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000183	0.000178
Ashkenazi Jewish	0.00	0.00
East Asian	0.000109	0.000109
Finnish	0.00	0.00
European (Non-Finnish)	0.000153	0.000149
Middle Eastern	0.000109	0.000109
South Asian	0.000198	0.000196
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May act as a scaffolding protein within caveolar membranes, functionally participating in formation of caveolae or caveolae-like vesicles.
• Pathway: Insulin signaling pathway - Homo sapiens (human);Angiopoietin Like Protein 8 Regulatory Pathway;Insulin Signaling;Neuronal System;Synaptic adhesion-like molecules;EGFR1;Protein-protein interactions at synapses (Consensus)

Recessive Scores

• pRec: 0.193

Intolerance Scores

• loftool: 0.529
• rvis_EVS: -0.52
• rvis_percentile_EVS: 21.2

Haploinsufficiency Scores

• pHI: 0.126
• hipred: Y
• hipred_score: 0.747
• ghis: 0.493

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.998

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Flot1
• Phenotype: hematopoietic system phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); immune system phenotype; cellular phenotype; homeostasis/metabolism phenotype

Gene ontology

• Biological process: membrane raft assembly;positive regulation of cytokine production;positive regulation of protein phosphorylation;regulation of receptor internalization;axonogenesis;extracellular matrix disassembly;positive regulation of protein binding;positive regulation of synaptic transmission, dopaminergic;positive regulation of interferon-beta production;dsRNA transport;positive regulation of heterotypic cell-cell adhesion;positive regulation of toll-like receptor 3 signaling pathway;regulation of toll-like receptor 4 signaling pathway;response to endoplasmic reticulum stress;regulation of Rho protein signal transduction;plasma membrane raft assembly;positive regulation of endocytosis;positive regulation of skeletal muscle tissue development;protein stabilization;protein homooligomerization;regulation of neurotransmitter uptake;positive regulation of cell adhesion molecule production;protein kinase C signaling;cellular response to exogenous dsRNA;protein localization to plasma membrane;positive regulation of myoblast fusion;positive regulation of cell junction assembly;protein localization to membrane raft;positive regulation of cell-cell adhesion mediated by cadherin
• Cellular component: uropod;lysosomal membrane;endosome;early endosome;microtubule organizing center;plasma membrane;caveola;cell-cell junction;cell-cell adherens junction;focal adhesion;COP9 signalosome;external side of plasma membrane;membrane;basolateral plasma membrane;apical plasma membrane;flotillin complex;lamellipodium;cortical actin cytoskeleton;cytoplasmic vesicle;centriolar satellite;sarcolemma;melanosome;cell-cell contact zone;membrane raft;presynaptic active zone;extracellular exosome;dopaminergic synapse;glutamatergic synapse;GABA-ergic synapse
• Molecular function: protease binding;protein binding;ionotropic glutamate receptor binding;protein heterodimerization activity