FMR1 fragile X messenger ribonucleoprotein 1

Information
Symbol
FMR1
Type
protein-coding
Description
fragile X messenger ribonucleoprotein 1
Entrez Gene ID
2332
Genome
hg19
Position
chrX:146,993,437-147,032,645
Genome
hg38
Position
chrX:147,911,919-147,951,125
MIM
309550 OMIM
HGNC
HGNC:3775 HGNC
Ensembl
ENSG00000102081 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 16
Likely pathogenic 0 18
Benign 0 56
Likely benign 0 58
Conflicting classifications of pathogenicity 0 8
not provided 6 0
Uncertain significance 0 96
Ranking
ClinVar
0
0
28
188
18
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Variant name Gene AA change CDS Japanese
frequency		 TogoVar MGeND Genome ClinVar CIViC evidence DisGeNET entry COSMIC
occurrence		 Prediction
Entry Origin Type Annotation Entry Origin Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Gene symbol Chromosome Genomic start Genomic stop Strand Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
TypeID
SYNONYM FMRP
SYNONYM FRAXA
SYNONYM POF
SYNONYM POF1
MIM 309550 OMIM
HGNC HGNC:3775 HGNC
Ensembl ENSG00000102081 Ensembl
AllianceGenome HGNC:3775
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000616382.5 hg38 chrX 147,912,080 147,949,512 37,433
ENST00000495717.6 hg38 chrX 147,912,080 147,949,512 37,433
ENST00000690216.1 hg38 chrX 147,912,159 147,951,067 38,909
ENST00000691214.1 hg38 chrX 147,912,076 147,951,097 39,022
ENST00000693512.1 hg38 chrX 147,912,159 147,951,014 38,856
ENST00000686086.1 hg38 chrX 147,912,162 147,951,108 38,947
ENST00000685491.1 hg38 chrX 147,912,079 147,951,021 38,943
ENST00000218200.12 hg38 chrX 147,911,951 147,951,112 39,162
ENST00000687593.1 hg38 chrX 147,912,070 147,951,108 39,039
ENST00000621447.1 hg38 chrX 147,912,123 147,914,451 2,329
ENST00000370470.5 hg38 chrX 147,912,180 147,948,845 36,666
ENST00000370471.7 hg38 chrX 147,911,951 147,951,112 39,162
ENST00000439526.6 hg38 chrX 147,912,052 147,950,636 38,585
ENST00000690137.1 hg38 chrX 147,912,085 147,951,067 38,983
ENST00000691111.1 hg38 chrX 147,912,079 147,951,097 39,019
ENST00000440235.6 hg38 chrX 147,911,951 147,951,125 39,175
ENST00000689517.1 hg38 chrX 147,912,094 147,951,097 39,004
ENST00000692108.1 hg38 chrX 147,912,079 147,951,108 39,030
ENST00000370475.9 hg38 chrX 147,911,919 147,951,125 39,207
ENST00000370477.5 hg38 chrX 147,911,963 147,950,315 38,353
ENST00000334557.10 hg38 chrX 147,912,052 147,933,687 21,636
ENST00000621453.5 hg38 chrX 147,912,080 147,948,504 36,425
ENST00000218200.12 hg19 chrX 146,993,469 147,032,632 39,164
ENST00000370471.7 hg19 chrX 146,993,469 147,032,632 39,164
ENST00000370475.9 hg19 chrX 146,993,437 147,032,645 39,209
ENST00000440235.6 hg19 chrX 146,993,469 147,032,645 39,177
ENST00000370477.5 hg19 chrX 146,993,481 147,031,835 38,355
ENST00000334557.10 hg19 chrX 146,993,570 147,015,206 21,637
ENST00000439526.6 hg19 chrX 146,993,570 147,032,156 38,587
ENST00000689517.1 hg19 chrX 146,993,612 147,032,617 39,006
ENST00000621447.1 hg19 chrX 146,993,641 146,995,969 2,329
ENST00000686086.1 hg19 chrX 146,993,680 147,032,628 38,949
ENST00000370470.5 hg19 chrX 146,993,698 147,030,365 36,668
ENST00000690216.1 hg19 chrX 146,993,677 147,032,587 38,911
ENST00000693512.1 hg19 chrX 146,993,677 147,032,534 38,858
ENST00000616382.5 hg19 chrX 146,993,598 147,031,032 37,435
ENST00000495717.6 hg19 chrX 146,993,598 147,031,032 37,435
ENST00000621453.5 hg19 chrX 146,993,598 147,030,024 36,427
ENST00000685491.1 hg19 chrX 146,993,597 147,032,541 38,945
ENST00000687593.1 hg19 chrX 146,993,588 147,032,628 39,041
ENST00000690137.1 hg19 chrX 146,993,603 147,032,587 38,985
ENST00000691111.1 hg19 chrX 146,993,597 147,032,617 39,021
ENST00000691214.1 hg19 chrX 146,993,594 147,032,617 39,024
ENST00000692108.1 hg19 chrX 146,993,597 147,032,628 39,032
Genome browser