full name
FMR1 autosomal homolog 1

synonyms
FXR1P, FXR1, ENSG00000114416

HGNC
HGNC:4023

Entrez Gene
Gene:8087

ENSEMBL
ENSG00000114416

location
chr: 3
start: 180630096
stop: 180700541
strand: +

OMIM
OMIM:600819: FXR1
OMIM:618823: ?Myopathy, congenital proximal, with minicore lesions
OMIM:618822: ?Myopathy, congenital, with respiratory insufficiency and bone fractures

transcripts
NM_001013439.2
NM_005087.3
NM_001013438.2

pathways
Disease [NCBI:1268854] [REACTOME:R-HSA-1643685]
Diseases of signal transduction [NCBI:1268855] [REACTOME:R-HSA-5663202] [PUBMED:12509752]
Oncogenic MAPK signaling [NCBI:1457781] [REACTOME:R-HSA-6802957] [PUBMED:25907612] [PUBMED:24651010] [PUBMED:24202393] [PUBMED:25435214] [PUBMED:21993244] [PUBMED:24814062] [PUBMED:22589270]
RNA transport [NCBI:177876] [KEGG:hsa03013] [PUBMED:10872469] [PUBMED:17401408] [PUBMED:20733056] [PUBMED:11018020] [PUBMED:15519698] [PUBMED:16314458] [PUBMED:15901496] [PUBMED:9548260] [PUBMED:18313922]
Signaling by BRAF and RAF fusions [NCBI:1457786] [REACTOME:R-HSA-6802952] [PUBMED:18974108] [PUBMED:24135138] [PUBMED:22745804] [PUBMED:25907612] [PUBMED:20526349] [PUBMED:15630448] [PUBMED:25204415] [PUBMED:24345920] [PUBMED:21424530] [PUBMED:23583981]