FBXL4 gene homepage - MSeqDR-LSDB Mitochondrial Disease Locus Specific Database

MSeqDR-LSDB Mitochondrial Disease Locus Specific Database

FBXL4 (F-box and leucine-rich repeat protein 4)

LOVD v.3.0 Build 21 [ Current LOVD status ]
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	Curator: Lishuang Shen

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FBXL4 gene homepage

General information
Gene symbol	FBXL4
Gene name	F-box and leucine-rich repeat protein 4
Chromosome	6
Chromosomal band	q16.1-q16.3
Imprinted	Unknown
Genomic reference	NG_033903.1
Transcript reference	NM_012160.3, NM_012160.4
Associated with diseases	MTDPS13
Citation reference(s)	-
Curators (1)	Lishuang Shen
Total number of public variants reported	386
Unique public DNA variants reported	381
Individuals with public variants	0
Hidden variants	0
Download all this gene's data	Download all data
Date created	April 17, 2014
Date last updated	April 17, 2014
Version	FBXL4:140417

Graphical displays and utilities
Graphs	Graphs displaying summary information of all variants in the database »
UCSC Genome Browser	Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser	Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer	Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
HGNC	13601
Entrez Gene	26235
PubMed articles	FBXL4
OMIM - Gene	605654
OMIM - Diseases	MTDPS13 (Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type))
HGMD	FBXL4
GeneCards	FBXL4
GeneTests	FBXL4

Active transcripts

Legend

Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.

ID	Chr	Name	NCBI ID	NCBI Protein ID	Variants
00003218	6	transcript variant 1	NM_012160.3	NP_036292.2	386
00003343	6	transcript variant 1	NM_012160.4	NP_036292.2	386

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