The FIG4 gene homepage

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
General information
Gene symbol FIG4
Gene name FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)
Chromosome 6
Chromosomal band q21
Imprinted Unknown
Genomic reference LRG_241
Transcript reference NM_014845.5
Exon/intron information NM_014845.5 exon/intron table
Associated with diseases ALS-11, BTOP, CMT-4J, YVS
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Philippe Campeau
Total number of public variants reported 153
Unique public DNA variants reported 88
Individuals with public variants 53
Hidden variants 11
Download all this gene's data Download all data
Notes This database is one of the gene variant databases from the:.
Variants involved in Inherited Peripheral Neuropathies are also collected by the IPNMDB. All variants submitted here will be shared with the IPNMDB.
Date created May 23, 2012
Date last updated February 08, 2021
Version FIG4:210208

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_014845.5.
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
Homepage URL http://www.LOVD.nl/FIG4
HGNC 16873
Entrez Gene 9896
PubMed articles FIG4
OMIM - Gene 609390
OMIM - Diseases ALS-11 (sclerosis, lateral, amyotrophic, type type 11 (ALS-11))
BTOP (polymicrogyria?, bilateral temporooccipital (BTOP))
CMT-4J (Charcot-Marie-Tooth disease, type 4J (CMT-4J))
YVS (Yunis Varon syndrome (YVS))
HGMD FIG4
GeneCards FIG4
GeneTests FIG4
Orphanet FIG4


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000747 6 FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae) NM_014845.5 NP_055660.1 153


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