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Center for Computational Systems Medicine
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Gene Summary

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Translation studies in PubMed

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Exon Skipping Events

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Expression

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Expression Regulation

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Associated Genes

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Protein 3D Structure

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Protein-Protein Interaction

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Mutations

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Prognostic Analysis

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Gender Association

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Age Association

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Related Drugs

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Related Diseases

Translation Factor: FMR1 (NCBI Gene ID:2332)


Gene Summary

check button Gene Summary
Gene InformationGene Name: FMR1
Gene ID: 2332
Gene Symbol

FMR1

Gene ID

2332

Gene NameFMRP translational regulator 1
SynonymsFMRP|FRAXA|POF|POF1
Cytomap

Xq27.3

Type of Geneprotein-coding
Descriptionsynaptic functional regulator FMR1fragile X mental retardation 1fragile X mental retardation protein 1truncated FMRP
Modification date20200313
UniProtAcc

Q06787


check button Child GO biological process term(s) under GO:0006412
GO IDGO term
GO:0017148Negative regulation of translation
GO:0006417Regulation of translation
GO:0045727Positive regulation of translation
GO:0002181Cytoplasmic translation
GO:0006413Translational initiation
GO:0006412Translation


check button Gene ontology of translaction factor with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneFMR1

GO:0000381

regulation of alternative mRNA splicing, via spliceosome

18653529

HgeneFMR1

GO:0002092

positive regulation of receptor internalization

25561520

HgeneFMR1

GO:0006974

cellular response to DNA damage stimulus

24813610

HgeneFMR1

GO:0033129

positive regulation of histone phosphorylation

24813610

HgeneFMR1

GO:0045727

positive regulation of translation

19097999|19166269

HgeneFMR1

GO:0051489

regulation of filopodium assembly

16631377

HgeneFMR1

GO:0060998

regulation of dendritic spine development

16631377

HgeneFMR1

GO:0098586

cellular response to virus

24514761

HgeneFMR1

GO:0098908

regulation of neuronal action potential

25561520

HgeneFMR1

GO:1902416

positive regulation of mRNA binding

25464849

HgeneFMR1

GO:2000637

positive regulation of gene silencing by miRNA

17057366

HgeneFMR1

GO:2001022

positive regulation of response to DNA damage stimulus

24813610



check button Inferred gene age of translation factor.
GeneInferred gene age group among (0 - 67.6], (67.6 - 355.7], (355.7 - 733], (733 - 1119.25], >1119.25


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Translation Studies in PubMed

check button We searched PubMed using 'FMR1[title] AND translation [title] AND human.'
GeneTitlePMID
FMR1DDX3X and specific initiation factors modulate FMR1 repeat-associated non-AUG-initiated translation31347257


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Exon Skipping Events

check buttonSkipped exons in TCGA and GTEx based on Ensembl gene isoform structure.
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
For more annotations, please visit our ExonSkipDB.
all structure

check button Open reading frame (ORF) analsis of exon skipping events based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
ENSTExon skip start (DNA)Exon Skip end (DNA)ORF
ENST00000370475147007057147007151Frame-shift
ENST00000370475147009839147009911In-frame
ENST00000370475147019617147019680In-frame
ENST00000370475147024650147024846Frame-shift

check button Exon skipping position in the amino acid sequence.
ENSTExon skip start (DNA)Exon Skip end (DNA)Len(transcript seq)Exon skip start (mRNA)Exon Skip end (mRNA)Len(amino acid seq)Exon skip start (AA)Exon Skip end (AA)
ENST0000037047514700983914700991143253273986326690
ENST00000370475147019617147019680432512541316632375396

check button Potentially (partially) lost protein functional features of UniProt.
UniProtAccExon skip start (AA)Exon Skip end (AA)Function feature start (AA)Function feature end (AA)Functional feature typeFunctional feature desc.


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Expression


check buttonGene expression level across TCGA pancancer
all structure

check buttonGene expression level across GTEx pantissue
all structure

check buttonExpression level of gene isoforms across TCGA pancancer
all structure

check buttonExpression level of gene isoforms across GTEx pantissue
all structure

check buttonCancer(tissue) type-specific expression level of Translation factor using z-score distriution
all structure

check buttonDifferential expression between tumor and matched normal (in the cancer types with more than 10 matched samples)
all structure
Cancer typeTranslation factorFCadj.pval
KICHFMR11.783101788130690.00102710723876953
KIRPFMR1-1.942848226249480.0099095250479877
BRCAFMR1-2.740536112550860.0481383834499222
KIRCFMR1-2.354069165436641.12145348829767e-07
HNSCFMR1-2.726069870345861.37760207508109e-06


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Expression Regulation


check buttonTranslation factor expression regulation through miRNA binding
Cancer typeGenemiRNATargetScan binding score (Context++ score percentile)CoefficientPvalue
HNSCFMR1hsa-miR-429840.3506493506493510.00174748444741186
KIRPFMR1hsa-miR-874-3p90-0.3743206811211060.000677688022534202
LUADFMR1hsa-miR-9-5p85-0.3393456614509250.00303951866543256
UCSFMR1hsa-miR-42984-0.310389610389610.0202760007950078


check buttonTranslation factor expression regulation through methylation in the promoter of Translation factor
all structure
Cancer typeGenemethyl group bmethyl group aDEG pvalavg methyl in bavg methyl in aavg exp in bavg exp in a

check buttonTranslation factor expression regulation through methylation in the gene body of Translation factor (positive regulation)
all structure
Cancer typeGenemethyl group bmethyl group aDEG pvalavg methyl in bavg methyl in aavg exp in bavg exp in a
CESCFMR1120.002510195117976830.1479350.3777431506849320.988801152948180.322376495413132
READFMR1120.03169768383325340.06176916666666670.3551429347826090.259591152946310.463095718164065

check buttonTranslation factor expression regulation through copy number variation of Translation factor
all structure
Cancer typeGeneCoefficientPvalue

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Associated Genes


check button Strongly correlated genes belong to cellular important gene groups with FMR1 (coefficient>0.8, pval<0.05, node color based on FC between tumor and matched normal). Significantly associated important genes in the individual cancer types. * Cell metabolism gene: cell metabolism genes from REACTOME (black edge), IUPHAR: drug target genes from IUPHAR (blue edge), Kinase: human kinase genes (brown edge), CGC: cancer gene census genes (orange edge), TSG: tumor suppresor genes (purple edge), Epifactor: epigenetic factors (light blue edge), TF: transcription factors (green)
all structure
Cancer typeGene groupTranslation factorCorrelated geneCoefficientPvalue
CHOLCell metabolism geneFMR1MANEA0.8011613393.85E-11
CHOLCell metabolism geneFMR1MTM10.8076018972.03E-11
DLBCCell metabolism geneFMR1MTM10.8028962356.67E-12
DLBCCell metabolism geneFMR1MED120.811151422.74E-12
DLBCCell metabolism geneFMR1MED140.8128767332.26E-12
DLBCCell metabolism geneFMR1SMG10.8253269175.36E-13
DLBCCGCFMR1ATM0.8109936282.79E-12
DLBCCGCFMR1CBL0.811140822.75E-12
DLBCCGCFMR1MED120.811151422.74E-12
DLBCEpifactorFMR1SIRT10.8012909597.89E-12
DLBCEpifactorFMR1STK40.8041513635.84E-12
DLBCEpifactorFMR1C11orf300.8048151675.44E-12
DLBCEpifactorFMR1ATM0.8109936282.79E-12
DLBCEpifactorFMR1KDM3B0.817438521.35E-12
DLBCEpifactorFMR1TAF40.8179494511.28E-12
DLBCEpifactorFMR1PHF80.8361508761.39E-13
DLBCIUPHARFMR1SIRT10.8012909597.89E-12
DLBCIUPHARFMR1STK40.8041513635.84E-12
DLBCIUPHARFMR1ATM0.8109936282.79E-12
DLBCIUPHARFMR1PDPK10.8145164981.89E-12
DLBCIUPHARFMR1KDM3B0.817438521.35E-12
DLBCIUPHARFMR1SMG10.8253269175.36E-13
DLBCIUPHARFMR1PHF80.8361508761.39E-13
DLBCKinaseFMR1STK40.8041513635.84E-12
DLBCKinaseFMR1ATM0.8109936282.79E-12
DLBCKinaseFMR1PDPK10.8145164981.89E-12
DLBCKinaseFMR1SMG10.8253269175.36E-13
DLBCTFFMR1ZFX0.8040616295.90E-12
DLBCTFFMR1ZBTB390.8041659165.83E-12
DLBCTFFMR1ATF70.807105764.26E-12
DLBCTFFMR1ZNF75D0.8201362269.91E-13
DLBCTFFMR1TSHZ10.8223508637.65E-13
DLBCTSGFMR1SIRT10.8012909597.89E-12
DLBCTSGFMR1ATM0.8109936282.79E-12
DLBCTSGFMR1CBL0.811140822.75E-12
DLBCTSGFMR1KDM3B0.817438521.35E-12
THYMCell metabolism geneFMR1ALG130.8357547244.97E-33
THYMCGCFMR1STAG20.8256232091.31E-31
THYMCGCFMR1PHF60.8353324915.72E-33
THYMIUPHARFMR1SLC9A60.8230682922.89E-31
THYMTFFMR1ZNF5480.8049523935.63E-29
THYMTFFMR1DMTF10.8309741552.39E-32
THYMTFFMR1ZBTB10.8378336072.47E-33
THYMTFFMR1ZNF280C0.8511895392.16E-35
THYMTFFMR1ZNF75D0.8529310921.13E-35
THYMTSGFMR1DMTF10.8309741552.39E-32
THYMTSGFMR1PHF60.8353324915.72E-33
UCSCell metabolism geneFMR1ALG130.8357547244.97E-33
UCSCGCFMR1STAG20.8256232091.31E-31
UCSCGCFMR1PHF60.8353324915.72E-33
UCSIUPHARFMR1SLC9A60.8230682922.89E-31
UCSTFFMR1ZNF5480.8049523935.63E-29
UCSTFFMR1DMTF10.8309741552.39E-32
UCSTFFMR1ZBTB10.8378336072.47E-33
UCSTFFMR1ZNF280C0.8511895392.16E-35
UCSTFFMR1ZNF75D0.8529310921.13E-35
UCSTSGFMR1DMTF10.8309741552.39E-32
UCSTSGFMR1PHF60.8353324915.72E-33
UVMCell metabolism geneFMR1AGL0.8001058715.45E-19
UVMCell metabolism geneFMR1DCP20.8002781555.29E-19
UVMCell metabolism geneFMR1PSMD100.8027891353.40E-19
UVMCell metabolism geneFMR1PSMC60.8029773923.29E-19
UVMCell metabolism geneFMR1NUP430.8051407412.23E-19
UVMCell metabolism geneFMR1ACADM0.8051660952.22E-19
UVMCell metabolism geneFMR1EDEM30.8084223321.23E-19
UVMCell metabolism geneFMR1IPMK0.809231251.06E-19
UVMCell metabolism geneFMR1UGGT20.8101089479.02E-20
UVMCell metabolism geneFMR1GPAM0.8114165197.08E-20
UVMCell metabolism geneFMR1IDI10.8120701446.26E-20
UVMCell metabolism geneFMR1PDE8A0.8123853885.90E-20
UVMCell metabolism geneFMR1MTMR10.8131405885.12E-20
UVMCell metabolism geneFMR1SUCLA20.8146567983.84E-20
UVMCell metabolism geneFMR1TRDMT10.8148772373.69E-20
UVMCell metabolism geneFMR1UGCG0.814933313.65E-20
UVMCell metabolism geneFMR1NUDT120.8149388153.64E-20
UVMCell metabolism geneFMR1GLS0.8154241653.32E-20
UVMCell metabolism geneFMR1TRMT110.8156760163.17E-20
UVMCell metabolism geneFMR1NUPL20.8184716921.85E-20
UVMCell metabolism geneFMR1FBXW70.8188039131.73E-20
UVMCell metabolism geneFMR1GNPDA20.8194080911.54E-20
UVMCell metabolism geneFMR1AASDHPPT0.8194676731.52E-20
UVMCell metabolism geneFMR1PHAX0.8211402531.09E-20
UVMCell metabolism geneFMR1RORA0.8227811217.89E-21
UVMCell metabolism geneFMR1DBT0.8235666836.74E-21
UVMCell metabolism geneFMR1GNAQ0.8250301465.02E-21
UVMCell metabolism geneFMR1AGPS0.8255201954.54E-21
UVMCell metabolism geneFMR1FAR10.8260339984.09E-21
UVMCell metabolism geneFMR1UGP20.8280533182.70E-21
UVMCell metabolism geneFMR1MTR0.8283340892.55E-21
UVMCell metabolism geneFMR1ALG10B0.8302146911.72E-21
UVMCell metabolism geneFMR1PIGA0.8303512681.68E-21
UVMCell metabolism geneFMR1MTMR60.8304845211.63E-21
UVMCell metabolism geneFMR1C1GALT10.83100781.46E-21
UVMCell metabolism geneFMR1MED170.8336320748.36E-22
UVMCell metabolism geneFMR1ENOPH10.8338078238.05E-22
UVMCell metabolism geneFMR1VBP10.8365619054.43E-22
UVMCell metabolism geneFMR1CLOCK0.836919544.10E-22
UVMCell metabolism geneFMR1NUPL10.8395968352.27E-22
UVMCell metabolism geneFMR1PPP1CB0.8452873036.21E-23
UVMCell metabolism geneFMR1LPGAT10.8473630463.82E-23
UVMCell metabolism geneFMR1COL4A3BP0.8486676542.81E-23
UVMCell metabolism geneFMR1NUP540.8506318211.75E-23
UVMCell metabolism geneFMR1SMG10.8507604381.70E-23
UVMCell metabolism geneFMR1RFK0.8510844731.57E-23
UVMCell metabolism geneFMR1ETNK10.8512023181.53E-23
UVMCell metabolism geneFMR1SACM1L0.8516282011.38E-23
UVMCell metabolism geneFMR1PRKAA10.8547060336.47E-24
UVMCell metabolism geneFMR1ACADSB0.857398063.29E-24
UVMCell metabolism geneFMR1DCK0.8582408892.66E-24
UVMCell metabolism geneFMR1PIK3CA0.8600814521.66E-24
UVMCell metabolism geneFMR1NAMPT0.8641299015.71E-25
UVMCell metabolism geneFMR1MANEA0.86479314.78E-25
UVMCell metabolism geneFMR1FBXL30.8661220463.34E-25
UVMCell metabolism geneFMR1RANBP20.8661509483.31E-25
UVMCell metabolism geneFMR1PIKFYVE0.8698466271.20E-25
UVMCell metabolism geneFMR1ACSL40.8720154366.48E-26
UVMCell metabolism geneFMR1MTM10.8800187916.11E-27
UVMCell metabolism geneFMR1PNPLA80.8833081232.20E-27
UVMCell metabolism geneFMR1CSGALNACT20.8845898311.47E-27
UVMCell metabolism geneFMR1GXYLT10.885160891.22E-27
UVMCGCFMR1RAD170.8001071445.45E-19
UVMCGCFMR1ARID20.8028684523.35E-19
UVMCGCFMR1ARHGAP50.8045468112.48E-19
UVMCGCFMR1ABI10.8047167772.41E-19
UVMCGCFMR1JAK20.8078250971.37E-19
UVMCGCFMR1CUL30.8079417551.34E-19
UVMCGCFMR1STAG10.8090660031.09E-19
UVMCGCFMR1APC0.8092464981.06E-19
UVMCGCFMR1MSH20.8093995821.03E-19
UVMCGCFMR1TRIM330.8094669291.02E-19
UVMCGCFMR1KTN10.8098783449.42E-20
UVMCGCFMR1ITGAV0.8107262058.05E-20
UVMCGCFMR1N4BP20.8116473376.78E-20
UVMCGCFMR1DDX100.8125416555.73E-20
UVMCGCFMR1FBXO110.812771875.49E-20
UVMCGCFMR1ATRX0.8154391093.31E-20
UVMCGCFMR1PMS10.8157946633.09E-20
UVMCGCFMR1USP80.8172194552.35E-20
UVMCGCFMR1ERCC40.8177950822.11E-20
UVMCGCFMR1CREB10.8183853931.88E-20
UVMCGCFMR1FBXW70.8188039131.73E-20
UVMCGCFMR1CDKN1B0.820989371.13E-20
UVMCGCFMR1MAP3K10.8231817387.28E-21
UVMCGCFMR1GNAQ0.8250301465.02E-21
UVMCGCFMR1SMAD40.8273104973.15E-21
UVMCGCFMR1ATF10.8313538491.36E-21
UVMCGCFMR1CDC730.8338098398.04E-22
UVMCGCFMR1KIF5B0.8407420331.76E-22
UVMCGCFMR1DEK0.8423367721.22E-22
UVMCGCFMR1ETNK10.8512023181.53E-23
UVMCGCFMR1DDX50.8517362771.34E-23
UVMCGCFMR1MLLT100.8534658538.80E-24
UVMCGCFMR1SF3B10.8581065622.75E-24
UVMCGCFMR1DICER10.8581569572.71E-24
UVMCGCFMR1PIK3CA0.8600814521.66E-24
UVMCGCFMR1GOPC0.8604402071.51E-24
UVMCGCFMR1SUZ120.8634636796.82E-25
UVMCGCFMR1RANBP20.8661509483.31E-25
UVMCGCFMR1STAG20.8719193336.66E-26
UVMCGCFMR1BCLAF10.8727704455.22E-26
UVMCGCFMR1RGPD30.8745894413.09E-26
UVMCGCFMR1PHF60.8813024684.12E-27
UVMCGCFMR1MALT10.9121876835.91E-32
UVMEpifactorFMR1ERCC60.8020684693.86E-19
UVMEpifactorFMR1UCHL50.8026437783.49E-19
UVMEpifactorFMR1ARID20.8028684523.35E-19
UVMEpifactorFMR1USP460.8029688123.29E-19
UVMEpifactorFMR1HAT10.8041546032.66E-19
UVMEpifactorFMR1YY10.8049796722.30E-19
UVMEpifactorFMR1MYSM10.806339321.80E-19
UVMEpifactorFMR1ZRANB30.8063781941.79E-19
UVMEpifactorFMR1ATAD2B0.8070609611.58E-19
UVMEpifactorFMR1JAK20.8078250971.37E-19
UVMEpifactorFMR1CUL30.8079417551.34E-19
UVMEpifactorFMR1SIRT10.8088803511.13E-19
UVMEpifactorFMR1TRIM330.8094669291.02E-19
UVMEpifactorFMR1TAF10.8123335615.96E-20
UVMEpifactorFMR1USP150.8138500854.48E-20
UVMEpifactorFMR1ATF20.8142733984.14E-20
UVMEpifactorFMR1ATRX0.8154391093.31E-20
UVMEpifactorFMR1PCGF60.8154452823.31E-20
UVMEpifactorFMR1ARID4A0.8155641433.23E-20
UVMEpifactorFMR1TAF70.8165610112.67E-20
UVMEpifactorFMR1PHC30.8170592122.43E-20
UVMEpifactorFMR1SENP10.8180520972.00E-20
UVMEpifactorFMR1BRMS1L0.8189236381.69E-20
UVMEpifactorFMR1CHD10.8198411111.41E-20
UVMEpifactorFMR1CHUK0.819872321.40E-20
UVMEpifactorFMR1HCFC20.8218796569.45E-21
UVMEpifactorFMR1BRWD30.8236312026.66E-21
UVMEpifactorFMR1RCOR30.8263998463.80E-21
UVMEpifactorFMR1WAC0.8272932853.16E-21
UVMEpifactorFMR1RSF10.8274258793.08E-21
UVMEpifactorFMR1SMEK10.8278168712.84E-21
UVMEpifactorFMR1OGT0.8292296362.12E-21
UVMEpifactorFMR1DNTTIP20.8292722482.10E-21
UVMEpifactorFMR1CTBP20.8294218442.03E-21
UVMEpifactorFMR1MSL30.8324230551.08E-21
UVMEpifactorFMR1FAM175B0.8325698081.05E-21
UVMEpifactorFMR1CDC730.8338098398.04E-22
UVMEpifactorFMR1CLOCK0.836919544.10E-22
UVMEpifactorFMR1ARID4B0.8370165284.01E-22
UVMEpifactorFMR1MPHOSPH80.837682043.47E-22
UVMEpifactorFMR1RLIM0.8413595131.53E-22
UVMEpifactorFMR1DEK0.8423367721.22E-22
UVMEpifactorFMR1JMJD1C0.8425300491.17E-22
UVMEpifactorFMR1EPC10.8444214167.59E-23
UVMEpifactorFMR1PHIP0.8458788065.42E-23
UVMEpifactorFMR1BAZ2B0.8465168124.67E-23
UVMEpifactorFMR1TAF9B0.8473026953.88E-23
UVMEpifactorFMR1CUL4B0.8474030833.79E-23
UVMEpifactorFMR1TLK10.8484162312.98E-23
UVMEpifactorFMR1MGEA50.8485359892.90E-23
UVMEpifactorFMR1MLLT100.8534658538.80E-24
UVMEpifactorFMR1PRKAA10.8547060336.47E-24
UVMEpifactorFMR1SHPRH0.858105352.75E-24
UVMEpifactorFMR1SF3B10.8581065622.75E-24
UVMEpifactorFMR1YEATS40.8582516012.65E-24
UVMEpifactorFMR1UHRF20.8599563071.71E-24
UVMEpifactorFMR1SMEK20.860018771.68E-24
UVMEpifactorFMR1CUL50.8616359011.10E-24
UVMEpifactorFMR1NIPBL0.8616775441.09E-24
UVMEpifactorFMR1CHD90.8619270181.02E-24
UVMEpifactorFMR1SUZ120.8634636796.82E-25
UVMEpifactorFMR1EPC20.8651008134.40E-25
UVMEpifactorFMR1UBE2D10.8692080921.43E-25
UVMEpifactorFMR1CUL20.8786180969.35E-27
UVMEpifactorFMR1RMI10.8850084811.29E-27
UVMEpifactorFMR1BRCC30.8957029563.52E-29
UVMEpifactorFMR1ZMYND110.9103746351.27E-31
UVMIUPHARFMR1MAPK80.801999863.91E-19
UVMIUPHARFMR1HAT10.8041546032.66E-19
UVMIUPHARFMR1VRK20.8050463092.27E-19
UVMIUPHARFMR1ATAD2B0.8070609611.58E-19
UVMIUPHARFMR1JAK20.8078250971.37E-19
UVMIUPHARFMR1SIRT10.8088803511.13E-19
UVMIUPHARFMR1TBK10.8093170011.04E-19
UVMIUPHARFMR1TRIM330.8094669291.02E-19
UVMIUPHARFMR1ITGAV0.8107262058.05E-20
UVMIUPHARFMR1HIPK30.8113729757.13E-20
UVMIUPHARFMR1NIPA10.8115180356.94E-20
UVMIUPHARFMR1SLC25A460.8115883216.85E-20
UVMIUPHARFMR1IDI10.8120701446.26E-20
UVMIUPHARFMR1TAF10.8123335615.96E-20
UVMIUPHARFMR1PDE8A0.8123853885.90E-20
UVMIUPHARFMR1FBXO110.812771875.49E-20
UVMIUPHARFMR1PKN20.8130607155.20E-20
UVMIUPHARFMR1CLK40.81472173.80E-20
UVMIUPHARFMR1UGCG0.814933313.65E-20
UVMIUPHARFMR1GLS0.8154241653.32E-20
UVMIUPHARFMR1SENP10.8180520972.00E-20
UVMIUPHARFMR1NR2C10.8190625891.65E-20
UVMIUPHARFMR1CHUK0.819872321.40E-20
UVMIUPHARFMR1SLC30A50.8206581671.20E-20
UVMIUPHARFMR1RORA0.8227811217.89E-21
UVMIUPHARFMR1MAP3K10.8231817387.28E-21
UVMIUPHARFMR1BRWD30.8236312026.66E-21
UVMIUPHARFMR1SENP60.8249530035.10E-21
UVMIUPHARFMR1GNAQ0.8250301465.02E-21
UVMIUPHARFMR1USP140.8260081494.11E-21
UVMIUPHARFMR1NR3C10.8279048282.79E-21
UVMIUPHARFMR1MTR0.8283340892.55E-21
UVMIUPHARFMR1SENP70.8296349511.95E-21
UVMIUPHARFMR1PRPF4B0.8298114831.88E-21
UVMIUPHARFMR1RIOK30.8334083298.77E-22
UVMIUPHARFMR1NEK10.8361679464.83E-22
UVMIUPHARFMR1USP10.8365848144.41E-22
UVMIUPHARFMR1SLC25A240.8365854574.41E-22
UVMIUPHARFMR1CLOCK0.836919544.10E-22
UVMIUPHARFMR1ABCA100.8375114993.60E-22
UVMIUPHARFMR1ATP11B0.8405206741.84E-22
UVMIUPHARFMR1JMJD1C0.8425300491.17E-22
UVMIUPHARFMR1NEK70.8434608649.47E-23
UVMIUPHARFMR1PHIP0.8458788065.42E-23
UVMIUPHARFMR1BAZ2B0.8465168124.67E-23
UVMIUPHARFMR1MAP3K20.8468910174.27E-23
UVMIUPHARFMR1TLK10.8484162312.98E-23
UVMIUPHARFMR1TNKS20.8499905152.05E-23
UVMIUPHARFMR1SMG10.8507604381.70E-23
UVMIUPHARFMR1SCYL20.8519754811.27E-23
UVMIUPHARFMR1TGFBR10.8532561079.26E-24
UVMIUPHARFMR1TRPM70.8535607538.59E-24
UVMIUPHARFMR1STK38L0.8537699528.16E-24
UVMIUPHARFMR1PRKAA10.8547060336.47E-24
UVMIUPHARFMR1ABCA50.8551128685.85E-24
UVMIUPHARFMR1MFN10.8569767473.66E-24
UVMIUPHARFMR1YES10.860054021.67E-24
UVMIUPHARFMR1PIK3CA0.8600814521.66E-24
UVMIUPHARFMR1CSNK1G30.8695878431.29E-25
UVMIUPHARFMR1PIKFYVE0.8698466271.20E-25
UVMIUPHARFMR1CASK0.8746438453.04E-26
UVMIUPHARFMR1XIAP0.8757734972.18E-26
UVMIUPHARFMR1BIRC20.8778877051.16E-26
UVMIUPHARFMR1SLC2A130.8794900327.18E-27
UVMIUPHARFMR1SLK0.8851588081.23E-27
UVMIUPHARFMR1ZMYND110.9103746351.27E-31
UVMIUPHARFMR1MALT10.9121876835.91E-32
UVMKinaseFMR1MAPK80.801999863.91E-19
UVMKinaseFMR1VRK20.8050463092.27E-19
UVMKinaseFMR1JAK20.8078250971.37E-19
UVMKinaseFMR1TBK10.8093170011.04E-19
UVMKinaseFMR1TRIM330.8094669291.02E-19
UVMKinaseFMR1HIPK30.8113729757.13E-20
UVMKinaseFMR1TAF10.8123335615.96E-20
UVMKinaseFMR1PKN20.8130607155.20E-20
UVMKinaseFMR1CLK40.81472173.80E-20
UVMKinaseFMR1CHUK0.819872321.40E-20
UVMKinaseFMR1MAP3K10.8231817387.28E-21
UVMKinaseFMR1PAN30.8288754962.28E-21
UVMKinaseFMR1PRPF4B0.8298114831.88E-21
UVMKinaseFMR1RIOK30.8334083298.77E-22
UVMKinaseFMR1NEK10.8361679464.83E-22
UVMKinaseFMR1NEK70.8434608649.47E-23
UVMKinaseFMR1MAP3K20.8468910174.27E-23
UVMKinaseFMR1TLK10.8484162312.98E-23
UVMKinaseFMR1COL4A3BP0.8486676542.81E-23
UVMKinaseFMR1SMG10.8507604381.70E-23
UVMKinaseFMR1SCYL20.8519754811.27E-23
UVMKinaseFMR1TGFBR10.8532561079.26E-24
UVMKinaseFMR1TRPM70.8535607538.59E-24
UVMKinaseFMR1STK38L0.8537699528.16E-24
UVMKinaseFMR1PRKAA10.8547060336.47E-24
UVMKinaseFMR1YES10.860054021.67E-24
UVMKinaseFMR1CSNK1G30.8695878431.29E-25
UVMKinaseFMR1CASK0.8746438453.04E-26
UVMKinaseFMR1SLK0.8851588081.23E-27
UVMTFFMR1ZNF780A0.8003172415.25E-19
UVMTFFMR1ZNF5290.8006783914.93E-19
UVMTFFMR1ZNF440.8012367664.47E-19
UVMTFFMR1JRKL0.8017389974.09E-19
UVMTFFMR1ZNF7990.8024351833.62E-19
UVMTFFMR1ZNF7080.8024905543.58E-19
UVMTFFMR1THAP20.8026242423.50E-19
UVMTFFMR1ARID20.8028684523.35E-19
UVMTFFMR1ZNF100.8028728113.35E-19
UVMTFFMR1RLF0.8029978833.27E-19
UVMTFFMR1ZNF8080.8037298952.87E-19
UVMTFFMR1THAP10.8049658982.30E-19
UVMTFFMR1YY10.8049796722.30E-19
UVMTFFMR1TTF10.8061369121.87E-19
UVMTFFMR1MYSM10.806339321.80E-19
UVMTFFMR1VEZF10.8066984171.69E-19
UVMTFFMR1ZNF3830.8067482261.67E-19
UVMTFFMR1ZNF518A0.8074115521.48E-19
UVMTFFMR1ZNF5870.8075822661.43E-19
UVMTFFMR1ZNF7210.8078491191.37E-19
UVMTFFMR1ZNF4430.807953821.34E-19
UVMTFFMR1ZBTB60.8082098141.28E-19
UVMTFFMR1CEBPZ0.8082535291.27E-19
UVMTFFMR1GABPA0.8092563791.06E-19
UVMTFFMR1ZNF830.810081799.07E-20
UVMTFFMR1ZNF810.8115424686.91E-20
UVMTFFMR1ZNF280D0.8117960976.59E-20
UVMTFFMR1ZNF6270.8132654475.00E-20
UVMTFFMR1SKIL0.8136926294.62E-20
UVMTFFMR1ZBED50.8139357944.41E-20
UVMTFFMR1ZNF2680.8141757494.21E-20
UVMTFFMR1ZNF2350.8141960654.20E-20
UVMTFFMR1ZNF3020.8142385964.16E-20
UVMTFFMR1ATF20.8142733984.14E-20
UVMTFFMR1ZUFSP0.8145356313.93E-20
UVMTFFMR1ZNF2670.8152096733.46E-20
UVMTFFMR1PCGF60.8154452823.31E-20
UVMTFFMR1ZFP300.8154471563.31E-20
UVMTFFMR1PRDM100.8160841582.93E-20
UVMTFFMR1NKRF0.816108832.91E-20
UVMTFFMR1ZNF6000.8162758262.82E-20
UVMTFFMR1ZNF1950.816911492.50E-20
UVMTFFMR1ZNF7760.8170862042.41E-20
UVMTFFMR1CREBZF0.8179793372.03E-20
UVMTFFMR1CREB10.8183853931.88E-20
UVMTFFMR1ZNF260.8184989421.84E-20
UVMTFFMR1ZNF6580.8187735611.74E-20
UVMTFFMR1ZNF5250.8188669451.71E-20
UVMTFFMR1NR2C10.8190625891.65E-20
UVMTFFMR1ZNF230.8194575171.52E-20
UVMTFFMR1ZNF3260.8197287621.44E-20
UVMTFFMR1ZNF3200.8199490791.38E-20
UVMTFFMR1ZNF4930.8204515921.25E-20
UVMTFFMR1MYNN0.8209076031.15E-20
UVMTFFMR1ZNF6740.8211632441.09E-20
UVMTFFMR1ZNF6250.8215023691.02E-20
UVMTFFMR1RORA0.8227811217.89E-21
UVMTFFMR1ZBTB410.8249245445.13E-21
UVMTFFMR1ZNF1480.82633423.85E-21
UVMTFFMR1LCOR0.8264854783.73E-21
UVMTFFMR1SMAD40.8273104973.15E-21
UVMTFFMR1ZNF6540.8278572262.82E-21
UVMTFFMR1NR3C10.8279048282.79E-21
UVMTFFMR1ZNF2270.8284472052.49E-21
UVMTFFMR1ZNF5580.828474862.48E-21
UVMTFFMR1ZNF585A0.8292547942.11E-21
UVMTFFMR1ZNF8000.830303571.69E-21
UVMTFFMR1ZNF4200.8309420681.48E-21
UVMTFFMR1ZNF354B0.8309788651.47E-21
UVMTFFMR1ATF10.8313538491.36E-21
UVMTFFMR1ZNF4700.8314480551.33E-21
UVMTFFMR1ZNF910.834178697.43E-22
UVMTFFMR1ZNF7010.8342186677.37E-22
UVMTFFMR1ZNF5270.8348823966.39E-22
UVMTFFMR1ZNF2540.8350354996.18E-22
UVMTFFMR1ZNF585B0.8351009166.09E-22
UVMTFFMR1ZNF4840.8353902575.72E-22
UVMTFFMR1AHCTF10.8359027025.12E-22
UVMTFFMR1ZNF6060.8361818924.82E-22
UVMTFFMR1ZNF4610.8366887024.31E-22
UVMTFFMR1CLOCK0.836919544.10E-22
UVMTFFMR1ZNF5690.8372471493.82E-22
UVMTFFMR1ZBTB10.8375596743.56E-22
UVMTFFMR1ZNF250.8379472673.27E-22
UVMTFFMR1ZNF2480.8381263013.14E-22
UVMTFFMR1ZBTB490.8382374913.07E-22
UVMTFFMR1ZNF1840.8383619192.98E-22
UVMTFFMR1ZNF6440.8383687392.98E-22
UVMTFFMR1ZNF4400.8384662022.92E-22
UVMTFFMR1ZNF4310.8388704312.67E-22
UVMTFFMR1TOPORS0.8399687012.09E-22
UVMTFFMR1ZNF4680.8401471322.01E-22
UVMTFFMR1ZNF7700.8411247451.61E-22
UVMTFFMR1ZNF75D0.841133921.61E-22
UVMTFFMR1ZNF7000.8414542871.49E-22
UVMTFFMR1MEF2A0.8428234461.10E-22
UVMTFFMR1ZNF780B0.8433485839.72E-23
UVMTFFMR1ZFP140.8434021689.60E-23
UVMTFFMR1ZNF140.8437872568.79E-23
UVMTFFMR1DMTF10.8439150318.53E-23
UVMTFFMR1HDX0.8440749938.22E-23
UVMTFFMR1ZNF1810.8452094466.33E-23
UVMTFFMR1ZNF37A0.8459726095.30E-23
UVMTFFMR1BAZ2B0.8465168124.67E-23
UVMTFFMR1ZNF280C0.8467696964.40E-23
UVMTFFMR1ZNF8450.8483308543.04E-23
UVMTFFMR1ZNF7650.8489589232.62E-23
UVMTFFMR1THAP90.8508148151.68E-23
UVMTFFMR1ZNF5670.8510050161.60E-23
UVMTFFMR1ZNF2340.8512940861.50E-23
UVMTFFMR1ZNF4410.8518497771.31E-23
UVMTFFMR1ZNF7820.8519352681.28E-23
UVMTFFMR1ZFX0.8524435981.13E-23
UVMTFFMR1IKZF50.8533953528.95E-24
UVMTFFMR1LIN540.8539264537.85E-24
UVMTFFMR1ZBTB110.8551717945.76E-24
UVMTFFMR1ELF20.8557656554.97E-24
UVMTFFMR1ZNF3970.8557965984.93E-24
UVMTFFMR1SMAD50.8562129344.44E-24
UVMTFFMR1ZNF1310.8562435284.41E-24
UVMTFFMR1THAP50.8580170392.81E-24
UVMTFFMR1ZNF5100.8591502972.11E-24
UVMTFFMR1ZNF3470.8604064011.52E-24
UVMTFFMR1ZNF33A0.8604300431.51E-24
UVMTFFMR1ZNF1600.860537691.47E-24
UVMTFFMR1TMF10.8640871535.77E-25
UVMTFFMR1ZNF4300.8646881584.92E-25
UVMTFFMR1ZNF2920.8647717244.81E-25
UVMTFFMR1ZNF6110.864918414.62E-25
UVMTFFMR1THAP60.8657565683.69E-25
UVMTFFMR1ZNF7610.8662835233.19E-25
UVMTFFMR1ZNF410.8668524112.74E-25
UVMTFFMR1ZNF1800.8670137222.62E-25
UVMTFFMR1ZNF4320.8705619899.78E-26
UVMTFFMR1GPBP10.8706096389.65E-26
UVMTFFMR1ZNF280.8735037394.23E-26
UVMTFFMR1NFXL10.8788909038.61E-27
UVMTFFMR1ZNF1360.8807854324.83E-27
UVMTFFMR1ZNF7910.8829223742.49E-27
UVMTFFMR1SP30.887144596.45E-28
UVMTSGFMR1ARID20.8028684523.35E-19
UVMTSGFMR1TTF10.8061369121.87E-19
UVMTSGFMR1LIN90.8066043511.71E-19
UVMTSGFMR1RBL20.8076801371.41E-19
UVMTSGFMR1SIRT10.8088803511.13E-19
UVMTSGFMR1APC0.8092464981.06E-19
UVMTSGFMR1MSH20.8093995821.03E-19
UVMTSGFMR1ITGAV0.8107262058.05E-20
UVMTSGFMR1GGNBP20.810809517.92E-20
UVMTSGFMR1SKIL0.8136926294.62E-20
UVMTSGFMR1PHC30.8170592122.43E-20
UVMTSGFMR1NEDD40.8186753711.77E-20
UVMTSGFMR1FBXW70.8188039131.73E-20
UVMTSGFMR1CHD10.8198411111.41E-20
UVMTSGFMR1CHUK0.819872321.40E-20
UVMTSGFMR1CDKN1B0.820989371.13E-20
UVMTSGFMR1SMCHD10.8236516856.63E-21
UVMTSGFMR1SMAD40.8273104973.15E-21
UVMTSGFMR1USP330.8327236131.01E-21
UVMTSGFMR1GORAB0.8330402129.49E-22
UVMTSGFMR1CDC730.8338098398.04E-22
UVMTSGFMR1FAM188A0.8364663854.53E-22
UVMTSGFMR1RB1CC10.8376074613.52E-22
UVMTSGFMR1KRIT10.8395831392.28E-22
UVMTSGFMR1TOPORS0.8399687012.09E-22
UVMTSGFMR1RCHY10.8403453481.92E-22
UVMTSGFMR1WDR110.8428087061.10E-22
UVMTSGFMR1DMTF10.8439150318.53E-23
UVMTSGFMR1INTS60.8444113337.61E-23
UVMTSGFMR1CCAR10.8542304327.28E-24
UVMTSGFMR1PRKAA10.8547060336.47E-24
UVMTSGFMR1RBBP80.856927623.71E-24
UVMTSGFMR1SHPRH0.858105352.75E-24
UVMTSGFMR1DICER10.8581569572.71E-24
UVMTSGFMR1UHRF20.8599563071.71E-24
UVMTSGFMR1VEZT0.8602433991.59E-24
UVMTSGFMR1CUL50.8616359011.10E-24
UVMTSGFMR1SUZ120.8634636796.82E-25
UVMTSGFMR1ZNF2920.8647717244.81E-25
UVMTSGFMR1DCLRE1A0.8679258422.04E-25
UVMTSGFMR1CUL20.8786180969.35E-27
UVMTSGFMR1PHF60.8813024684.12E-27
UVMTSGFMR1PPM1A0.8828982382.51E-27
UVMTSGFMR1TANK0.8910850311.74E-28
UVMTSGFMR1ZMYND110.9103746351.27E-31


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Protein structure


check button Protein 3D structure
Visit iCn3D.


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Protein-Protein Interaction


check button Protein-protein interaction networks
* Overlap between up-regulated DEGs (log2FC<-1 and adj.P<0.05) and STRING PPI network (center: Translation factor, node: DEGs, edges: weighted by -log2(adj.P))
all structure

check buttonOverlap between down-regulated DEGs (log2FC>1 and adj.P<0.05) and STRING PPI network (center: Translation factor, node: DEGs, edges: weighted by -log2(adj.P))
all structure
check button
* Edge colors based on TCGA cancer types.

check button* Overlap between DEGs (log2FC>1 and adj.P<0.05) and STRING PPI network per cancer (center: Translation factor, node: DEGs, node color: log2FC, edges: weighted by -log2(adj.P))
all structure
Cancer typeTranslation factorInteracting protein coding geneFCadj.pval
COADFMR1NUFIP2-2.749047140956930.0012979805469513
LIHCFMR1FXR1-1.342228499001530.00221270975997039
CHOLFMR1CAPRIN1-1.925236432044080.00390625
THCAFMR1NUFIP21.213464149301120.00745605759178186
CHOLFMR1CYFIP1-2.77806978716730.0078125
KICHFMR1CAPRIN11.8042352617440.00882232189178467
BLCAFMR1NUFIP2-2.335635305879360.0108261108398438
PRADFMR1DICER11.547685587373790.0130781232419534
THCAFMR1CYFIP21.901812939174120.0176042512051157
BLCAFMR1CAPRIN1-3.692812103986040.0180816650390625
HNSCFMR1FXR11.420338605367390.03633773249976
COADFMR1FXR21.011055442228680.0407472252845765
BRCAFMR1CYFIP2-1.473256852641161.38509705928293e-11
PRADFMR1CYFIP1-1.108184243559851.48880035272649e-05
KIRPFMR1CYFIP2-1.465662102999834.6566128730774e-10
BRCAFMR1NUFIP21.596773878183324.86249064999326e-06
BRCAFMR1CAPRIN11.616311707052675.15475086615707e-17
BRCAFMR1CYFIP1-1.134339427115895.44928403979541e-07
KIRCFMR1TDRD31.024231460982626.53197063696712e-05
KICHFMR1EIF4E1.616752105626716.55651092529297e-06
KIRCFMR1FXR1-1.916785088915977.23860956542035e-06
LUADFMR1FXR1-1.553400650621057.61068774930263e-05


check button Protein-protein interactors with this translation factor (BIOGRID-3.4.160)
PPI interactors with FMR1
UBE2I, FXR1, NUFIP1, NUFIP2, CYFIP2, FXR2, CYFIP1, FMR1, NCL, PRKAA1, STAU1, CALCOCO2, ZBP1, TBKBP1, TBK1, SIRT7, TDRD3, gag, ESR1, MAGOH, EIF4A3, BAG3, POTEE, RANBP9, INCA1, MEOX1, SPAG5, FSD2, STUB1, SUZ12, BCL7B, KBTBD2, WBP2NL, NTRK1, NCK1, IFI16, FZR1, SSX2IP, GBA, RPL10, SNCA, BCLAF1, THOC1, UBA6, MZT1, Kif5b, Stmn1, Mtx1, Sart3, Tubg1, Dennd6a, Bag2, Ccdc9, FBXW7, WWP2, LGALS3BP, CYLD, DLD, DLST, PDHA1, G3BP1, FBXO4, CLEC14A, HIF1AN, WDR77, TRIP4, GSK3A, AKAP9, RBM14, CASK, SF3B2, TNIP2, CHD3, CHD4, EZH2, HABP4, MB21D1, RNF41, C1orf106, PHF1, ATG16L1, USP14, KRAS, HIST1H4A, SNRNP70, BRD7, CTNNB1, EIF4E, ATG5, EFHC1, SUOX, POLR1C, ZBTB42, CWC25, PLEKHA4, FANCD2, HCVgp1, TCOF1, N, nsp9, nsp3, LIMS1, CAPRIN1, CSDE1, DAZL, DDX3X, AHNAK, ALG13, ANKHD1-EIF4EBP3, ANKRD17, ATXN2, DHX57, EIF4ENIF1, FAM120A, FUBP3, G3BP2, IGF2BP2, LSM12, LSM14A, MOV10, OTUD4, PRMT1, PRRC2A, PRRC2B, PRRC2C, R3HDM1, RC3H1, RC3H2, SMG1, STRAP, TNRC6B, TOP3B, UBAP2, UBAP2L, UPF1, USP10, YTHDF1, YTHDF2, ZC3H7A, AGO2, ATXN2L, C1QBP, CASC3, CPEB4, ERH, LARP4, LUZP1, MIA3, PUM1, PUM2, SMG7, YTHDF3, ZNF598, TRIM56, UNK, ZC3HAV1, TUBB3, CHTOP, GLE1, MEX3A, SECISBP2, MEX3B, ZC3H7B, LARP4B, RBMS1, RNF214, SYNCRIP, SMG8, MKRN2, ANLN, AURKB, ECT2, KIF14, KIF20A, KIF23, PRC1, CECR2, GRSF1, MKI67, BRD4, NUPR1, RBM39, TAF9B, CUX1, DKC1, VANGL2, IGF2BP3, HMBOX1, ACOT7, TUBB6, WNT5A, CWC15, IGF2BP1, DHX9, PLRG1, WTAP, MAGED1, PNN, PSMD3, EEF1A2, VANGL1, EIF4G1, TAF8, ADAR, NR3C1, TPD52L2, RBBP6, UFL1, DDRGK1, FBL, RPS20, SERBP1, TLE4, ALDOC, BEX4, CAMK2B, DCTPP1, DGKD, GRIP2, HOMER3, CCAR2, MAGI3, MVP, NECAB2, PICK1, PPP1R12C, PSME3, SFPQ, SHARPIN, TACC2, ZFPM2, ZMYND8, ZBTB2, CDX1, CD6, MAP7, ZBTB3, C1orf35, USP11, BTF3, TMPRSS2, IFITM1, DPP4, IFITM3, CLEC4D, CLEC4E, nsp1, nsp12, nsp15, nsp5, ORF10, nsp14, ORF3a, AGO1, HECTD1, SIRT6,


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Mutations


check button Clinically associated variants from ClinVar.
GeneChrPositionRefSeqVarSeqRefSeeqVarTypePathogenicDiseaseVarInfo
FMR1chrX146993405TCsingle_nucleotide_variantUncertain_significancenot_provided
FMR1chrX146993567CCGCGMicrosatelliteBenignnot_providedSO:0001619|non-coding_transcript_variant,SO:0001623|5_prime_UTR_variantSO:0001619|non-coding_transcript_variant,SO:0001623|5_prime_UTR_variant
FMR1chrX146993567CCGCGGCGMicrosatelliteBenignnot_providedSO:0001619|non-coding_transcript_variant,SO:0001623|5_prime_UTR_variantSO:0001619|non-coding_transcript_variant,SO:0001623|5_prime_UTR_variant
FMR1chrX146993567CCGCGGCGGCGMicrosatelliteBenignnot_providedSO:0001619|non-coding_transcript_variant,SO:0001623|5_prime_UTR_variantSO:0001619|non-coding_transcript_variant,SO:0001623|5_prime_UTR_variant
FMR1chrX146993567CCGCGGCGGCGGCGMicrosatelliteBenignnot_providedSO:0001619|non-coding_transcript_variant,SO:0001623|5_prime_UTR_variantSO:0001619|non-coding_transcript_variant,SO:0001623|5_prime_UTR_variant
FMR1chrX146993567CCGCGGCGGCGGCGGCGMicrosatelliteBenignnot_providedSO:0001619|non-coding_transcript_variant,SO:0001623|5_prime_UTR_variantSO:0001619|non-coding_transcript_variant,SO:0001623|5_prime_UTR_variant
FMR1chrX146993567CCGCGGCGGCGGCGGCGGCGMicrosatelliteBenignnot_providedSO:0001619|non-coding_transcript_variant,SO:0001623|5_prime_UTR_variantSO:0001619|non-coding_transcript_variant,SO:0001623|5_prime_UTR_variant
FMR1chrX146993567CCGCGGCGGCGGCGGCGGCGGCGMicrosatelliteBenignnot_providedSO:0001619|non-coding_transcript_variant,SO:0001623|5_prime_UTR_variantSO:0001619|non-coding_transcript_variant,SO:0001623|5_prime_UTR_variant
FMR1chrX146993567CCGCGGCGGCGGCGGCGGCGGCGGCGMicrosatelliteBenignnot_providedSO:0001619|non-coding_transcript_variant,SO:0001623|5_prime_UTR_variantSO:0001619|non-coding_transcript_variant,SO:0001623|5_prime_UTR_variant
FMR1chrX146993567CCGCGGCGGCGGCGGCGGCGGCGGCGGCGMicrosatelliteBenignnot_providedSO:0001619|non-coding_transcript_variant,SO:0001623|5_prime_UTR_variantSO:0001619|non-coding_transcript_variant,SO:0001623|5_prime_UTR_variant
FMR1chrX146993567CCGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGMicrosatelliteBenignnot_providedSO:0001619|non-coding_transcript_variant,SO:0001623|5_prime_UTR_variantSO:0001619|non-coding_transcript_variant,SO:0001623|5_prime_UTR_variant
FMR1chrX146993567CCGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGMicrosatelliteBenignnot_providedSO:0001619|non-coding_transcript_variant,SO:0001623|5_prime_UTR_variantSO:0001619|non-coding_transcript_variant,SO:0001623|5_prime_UTR_variant
FMR1chrX146993567CCGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGMicrosatelliteBenignnot_providedSO:0001619|non-coding_transcript_variant,SO:0001623|5_prime_UTR_variantSO:0001619|non-coding_transcript_variant,SO:0001623|5_prime_UTR_variant
FMR1chrX146993567CCGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGMicrosatelliteBenignnot_providedSO:0001619|non-coding_transcript_variant,SO:0001623|5_prime_UTR_variantSO:0001619|non-coding_transcript_variant,SO:0001623|5_prime_UTR_variant
FMR1chrX146993567CCGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGMicrosatelliteBenignnot_providedSO:0001619|non-coding_transcript_variant,SO:0001623|5_prime_UTR_variantSO:0001619|non-coding_transcript_variant,SO:0001623|5_prime_UTR_variant
FMR1chrX146993567CCGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGMicrosatelliteBenignnot_providedSO:0001619|non-coding_transcript_variant,SO:0001623|5_prime_UTR_variantSO:0001619|non-coding_transcript_variant,SO:0001623|5_prime_UTR_variant
FMR1chrX146993567CCGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGMicrosatelliteBenignnot_providedSO:0001619|non-coding_transcript_variant,SO:0001623|5_prime_UTR_variantSO:0001619|non-coding_transcript_variant,SO:0001623|5_prime_UTR_variant
FMR1chrX146993567CCGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGMicrosatelliteBenignnot_providedSO:0001619|non-coding_transcript_variant,SO:0001623|5_prime_UTR_variantSO:0001619|non-coding_transcript_variant,SO:0001623|5_prime_UTR_variant
FMR1chrX146993567CCGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGMicrosatelliteBenignnot_providedSO:0001619|non-coding_transcript_variant,SO:0001623|5_prime_UTR_variantSO:0001619|non-coding_transcript_variant,SO:0001623|5_prime_UTR_variant
FMR1chrX146993567CCGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGMicrosatelliteBenignnot_providedSO:0001619|non-coding_transcript_variant,SO:0001623|5_prime_UTR_variantSO:0001619|non-coding_transcript_variant,SO:0001623|5_prime_UTR_variant
FMR1chrX146993567CCGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGMicrosatelliteBenignnot_providedSO:0001619|non-coding_transcript_variant,SO:0001623|5_prime_UTR_variantSO:0001619|non-coding_transcript_variant,SO:0001623|5_prime_UTR_variant
FMR1chrX146993567CCGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGMicrosatelliteBenignnot_providedSO:0001619|non-coding_transcript_variant,SO:0001623|5_prime_UTR_variantSO:0001619|non-coding_transcript_variant,SO:0001623|5_prime_UTR_variant
FMR1chrX146993567CCGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGMicrosatelliteBenignnot_providedSO:0001619|non-coding_transcript_variant,SO:0001623|5_prime_UTR_variantSO:0001619|non-coding_transcript_variant,SO:0001623|5_prime_UTR_variant
FMR1chrX146993567CCGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGMicrosatelliteBenignnot_providedSO:0001619|non-coding_transcript_variant,SO:0001623|5_prime_UTR_variantSO:0001619|non-coding_transcript_variant,SO:0001623|5_prime_UTR_variant
FMR1chrX146993567CCGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGMicrosatelliteBenignnot_providedSO:0001619|non-coding_transcript_variant,SO:0001623|5_prime_UTR_variantSO:0001619|non-coding_transcript_variant,SO:0001623|5_prime_UTR_variant
FMR1chrX146993567CCGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGMicrosatelliteBenignnot_providedSO:0001619|non-coding_transcript_variant,SO:0001623|5_prime_UTR_variantSO:0001619|non-coding_transcript_variant,SO:0001623|5_prime_UTR_variant
FMR1chrX146993567CCGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGMicrosatelliteBenignnot_providedSO:0001619|non-coding_transcript_variant,SO:0001623|5_prime_UTR_variantSO:0001619|non-coding_transcript_variant,SO:0001623|5_prime_UTR_variant
FMR1chrX146993567CCGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGMicrosatelliteBenignnot_providedSO:0001619|non-coding_transcript_variant,SO:0001623|5_prime_UTR_variantSO:0001619|non-coding_transcript_variant,SO:0001623|5_prime_UTR_variant
FMR1chrX146993567CCGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGMicrosatelliteBenignnot_providedSO:0001619|non-coding_transcript_variant,SO:0001623|5_prime_UTR_variantSO:0001619|non-coding_transcript_variant,SO:0001623|5_prime_UTR_variant
FMR1chrX146993567CCGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGMicrosatelliteBenignnot_providedSO:0001619|non-coding_transcript_variant,SO:0001623|5_prime_UTR_variantSO:0001619|non-coding_transcript_variant,SO:0001623|5_prime_UTR_variant
FMR1chrX146993567CCGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGMicrosatelliteBenignnot_providedSO:0001619|non-coding_transcript_variant,SO:0001623|5_prime_UTR_variantSO:0001619|non-coding_transcript_variant,SO:0001623|5_prime_UTR_variant
FMR1chrX146993567CCGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGMicrosatelliteBenignnot_providedSO:0001619|non-coding_transcript_variant,SO:0001623|5_prime_UTR_variantSO:0001619|non-coding_transcript_variant,SO:0001623|5_prime_UTR_variant
FMR1chrX146993567CCGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGMicrosatelliteBenignnot_providedSO:0001619|non-coding_transcript_variant,SO:0001623|5_prime_UTR_variantSO:0001619|non-coding_transcript_variant,SO:0001623|5_prime_UTR_variant
FMR1chrX146993567CCGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGMicrosatelliteBenignnot_providedSO:0001619|non-coding_transcript_variant,SO:0001623|5_prime_UTR_variantSO:0001619|non-coding_transcript_variant,SO:0001623|5_prime_UTR_variant
FMR1chrX146993567CCGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGMicrosatelliteBenignnot_providedSO:0001619|non-coding_transcript_variant,SO:0001623|5_prime_UTR_variantSO:0001619|non-coding_transcript_variant,SO:0001623|5_prime_UTR_variant
FMR1chrX146993567CGCGCMicrosatelliteBenignnot_providedSO:0001619|non-coding_transcript_variant,SO:0001623|5_prime_UTR_variantSO:0001619|non-coding_transcript_variant,SO:0001623|5_prime_UTR_variant
FMR1chrX146993567CGCGGCGCMicrosatelliteBenignnot_providedSO:0001619|non-coding_transcript_variant,SO:0001623|5_prime_UTR_variantSO:0001619|non-coding_transcript_variant,SO:0001623|5_prime_UTR_variant
FMR1chrX146993567CGCGGCGGCGCMicrosatelliteBenignnot_providedSO:0001619|non-coding_transcript_variant,SO:0001623|5_prime_UTR_variantSO:0001619|non-coding_transcript_variant,SO:0001623|5_prime_UTR_variant
FMR1chrX146993567CGCGGCGGCGGCGCMicrosatelliteBenignnot_providedSO:0001619|non-coding_transcript_variant,SO:0001623|5_prime_UTR_variantSO:0001619|non-coding_transcript_variant,SO:0001623|5_prime_UTR_variant
FMR1chrX146993567CGCGGCGGCGGCGGCGCMicrosatelliteBenignnot_providedSO:0001619|non-coding_transcript_variant,SO:0001623|5_prime_UTR_variantSO:0001619|non-coding_transcript_variant,SO:0001623|5_prime_UTR_variant
FMR1chrX146993569CGGCGGCGGCGGCGGCGGCGGCGGCGGCGG.MicrosatelliteBenignnot_providedSO:0001619|non-coding_transcript_variant,SO:0002073|no_sequence_alterationSO:0001619|non-coding_transcript_variant,SO:0002073|no_sequence_alteration
FMR1chrX146993599AAGGCMicrosatelliteBenignnot_providedSO:0001619|non-coding_transcript_variant,SO:0001623|5_prime_UTR_variantSO:0001619|non-coding_transcript_variant,SO:0001623|5_prime_UTR_variant
FMR1chrX146993715GTsingle_nucleotide_variantBenignHistory_of_neurodevelopmental_disorder|not_specifiedSO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variantSO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant
FMR1chrX147003339AGsingle_nucleotide_variantBenignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
FMR1chrX147003450GGTAIndelPathogenicFragile_X_syndromeSO:0001574|splice_acceptor_variantSO:0001574|splice_acceptor_variant
FMR1chrX147003470AGsingle_nucleotide_variantUncertain_significancenot_providedSO:0001583|missense_variant,SO:0001619|non-coding_transcript_variantSO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant
FMR1chrX147003479CAsingle_nucleotide_variantPathogenicFragile_X_syndromeSO:0001587|nonsense,SO:0001619|non-coding_transcript_variantSO:0001587|nonsense,SO:0001619|non-coding_transcript_variant
FMR1chrX147003500AGsingle_nucleotide_variantUncertain_significancenot_providedSO:0001583|missense_variant,SO:0001619|non-coding_transcript_variantSO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant
FMR1chrX147003501CAAGTCMicrosatelliteLikely_pathogenicnot_providedSO:0001575|splice_donor_variantSO:0001575|splice_donor_variant
FMR1chrX147003508GCsingle_nucleotide_variantLikely_pathogenicnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
FMR1chrX147003545AGsingle_nucleotide_variantBenignnot_specifiedSO:0001627|intron_variantSO:0001627|intron_variant
FMR1chrX147003564TCsingle_nucleotide_variantBenignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
FMR1chrX147003794TCsingle_nucleotide_variantBenignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
FMR1chrX147007220TAsingle_nucleotide_variantBenignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
FMR1chrX147009838AGsingle_nucleotide_variantLikely_pathogenicAutistic_behavior|Intellectual_disabilitySO:0001574|splice_acceptor_variantSO:0001574|splice_acceptor_variant
FMR1chrX147009866GAsingle_nucleotide_variantLikely_benignnot_specifiedSO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variantSO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant
FMR1chrX147010158AGsingle_nucleotide_variantBenignnot_specifiedSO:0001627|intron_variantSO:0001627|intron_variant
FMR1chrX147010210AGsingle_nucleotide_variantUncertain_significancenot_providedSO:0001583|missense_variant,SO:0001619|non-coding_transcript_variantSO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant
FMR1chrX147010254TCsingle_nucleotide_variantBenignnot_specifiedSO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variantSO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant
FMR1chrX147010263ACsingle_nucleotide_variantLikely_benignFragile_X_syndromeSO:0001583|missense_variant,SO:0001619|non-coding_transcript_variantSO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant
FMR1chrX147010278TATDeletionPathogenicFragile_X_syndromeSO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variantSO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant
FMR1chrX147010280CTsingle_nucleotide_variantUncertain_significancenot_specifiedSO:0001583|missense_variant,SO:0001619|non-coding_transcript_variantSO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant
FMR1chrX147010281TCsingle_nucleotide_variantLikely_benignnot_specified|not_providedSO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variantSO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant
FMR1chrX147010320GAsingle_nucleotide_variantBenignFragile_X_syndrome|History_of_neurodevelopmental_disorder|not_specified|not_providedSO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variantSO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant
FMR1chrX147010368TCsingle_nucleotide_variantBenignnot_specifiedSO:0001627|intron_variantSO:0001627|intron_variant
FMR1chrX147010529GAsingle_nucleotide_variantBenignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
FMR1chrX147011181CC.DeletionBenignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
FMR1chrX147011445AATDuplicationBenignnot_specifiedSO:0001627|intron_variantSO:0001627|intron_variant
FMR1chrX147011457ATsingle_nucleotide_variantUncertain_significancenot_providedSO:0001627|intron_variantSO:0001627|intron_variant
FMR1chrX147011459AGsingle_nucleotide_variantPathogenicIntellectual_disabilitySO:0001627|intron_variantSO:0001627|intron_variant
FMR1chrX147011480GTsingle_nucleotide_variantBenignFragile_X_syndrome|History_of_neurodevelopmental_disorder|not_specifiedSO:0001583|missense_variant,SO:0001619|non-coding_transcript_variantSO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant
FMR1chrX147011487AGsingle_nucleotide_variantUncertain_significancenot_providedSO:0001583|missense_variant,SO:0001619|non-coding_transcript_variantSO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant
FMR1chrX147011526CTsingle_nucleotide_variantLikely_benignIntellectual_disabilitySO:0001583|missense_variant,SO:0001619|non-coding_transcript_variantSO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant
FMR1chrX147011655TAsingle_nucleotide_variantLikely_benignnot_specifiedSO:0001583|missense_variant,SO:0001619|non-coding_transcript_variantSO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant
FMR1chrX147011687TCsingle_nucleotide_variantUncertain_significancenot_providedSO:0001583|missense_variant,SO:0001619|non-coding_transcript_variantSO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant
FMR1chrX147011735GCsingle_nucleotide_variantUncertain_significanceInborn_genetic_diseasesSO:0001583|missense_variant,SO:0001619|non-coding_transcript_variantSO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant
FMR1chrX147011739TGAATMicrosatelliteUncertain_significanceNeurodevelopmental_abnormalitySO:0001619|non-coding_transcript_variant,SO:0001822|inframe_deletionSO:0001619|non-coding_transcript_variant,SO:0001822|inframe_deletion
FMR1chrX147013964GAsingle_nucleotide_variantLikely_benignHistory_of_neurodevelopmental_disorderSO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variantSO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant
FMR1chrX147014110GAsingle_nucleotide_variantLikely_pathogenicHistory_of_neurodevelopmental_disorderSO:0001583|missense_variant,SO:0001619|non-coding_transcript_variantSO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant
FMR1chrX147014145CTsingle_nucleotide_variantBenignnot_specified|not_providedSO:0001627|intron_variantSO:0001627|intron_variant
FMR1chrX147014220AGsingle_nucleotide_variantConflicting_interpretations_of_pathogenicityFragile_X_syndrome|not_providedSO:0001583|missense_variant,SO:0001619|non-coding_transcript_variantSO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant
FMR1chrX147014268CTsingle_nucleotide_variantLikely_pathogenicSee_casesSO:0001583|missense_variant,SO:0001619|non-coding_transcript_variantSO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant
FMR1chrX147014521TCsingle_nucleotide_variantBenignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
FMR1chrX147017929CTsingle_nucleotide_variantBenignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
FMR1chrX147018053TAsingle_nucleotide_variantPathogenicFragile_X_syndromeSO:0001583|missense_variant,SO:0001619|non-coding_transcript_variantSO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant
FMR1chrX147018133GAsingle_nucleotide_variantPathogenicIntellectual_disabilitySO:0001575|splice_donor_variantSO:0001575|splice_donor_variant
FMR1chrX147018146CTsingle_nucleotide_variantBenignnot_specified|not_providedSO:0001627|intron_variantSO:0001627|intron_variant
FMR1chrX147018273TCsingle_nucleotide_variantBenignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
FMR1chrX147019049AGsingle_nucleotide_variantUncertain_significancenot_providedSO:0001583|missense_variant,SO:0001619|non-coding_transcript_variantSO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant
FMR1chrX147019192GAsingle_nucleotide_variantBenignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
FMR1chrX147019676GAsingle_nucleotide_variantLikely_pathogenicFragile_X_syndromeSO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variantSO:0001587|nonsense,SO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant
FMR1chrX147019774GCsingle_nucleotide_variantBenignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
FMR1chrX147022162AGsingle_nucleotide_variantLikely_pathogenicnot_providedSO:0001583|missense_variant,SO:0001619|non-coding_transcript_variantSO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant
FMR1chrX147022284AGsingle_nucleotide_variantBenignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
FMR1chrX147024558ATsingle_nucleotide_variantBenignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
FMR1chrX147024657GCsingle_nucleotide_variantUncertain_significanceFragile_X_syndromeSO:0001583|missense_variant,SO:0001627|intron_variantSO:0001583|missense_variant,SO:0001627|intron_variant
FMR1chrX147024707TAsingle_nucleotide_variantUncertain_significancenot_providedSO:0001819|synonymous_variant,SO:0001627|intron_variantSO:0001819|synonymous_variant,SO:0001627|intron_variant
FMR1chrX147024746GAsingle_nucleotide_variantLikely_benignnot_providedSO:0001819|synonymous_variant,SO:0001627|intron_variantSO:0001819|synonymous_variant,SO:0001627|intron_variant
FMR1chrX147024783GAsingle_nucleotide_variantUncertain_significancenot_providedSO:0001583|missense_variant,SO:0001627|intron_variantSO:0001583|missense_variant,SO:0001627|intron_variant
FMR1chrX147024838AGsingle_nucleotide_variantUncertain_significancenot_providedSO:0001583|missense_variant,SO:0001627|intron_variantSO:0001583|missense_variant,SO:0001627|intron_variant
FMR1chrX147025868CGsingle_nucleotide_variantUncertain_significancenot_providedSO:0001627|intron_variantSO:0001627|intron_variant
FMR1chrX147026266GTsingle_nucleotide_variantBenignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
FMR1chrX147026489CTsingle_nucleotide_variantBenign/Likely_benignFragile_X_syndrome|History_of_neurodevelopmental_disorder|not_specified|not_providedSO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variantSO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant
FMR1chrX147026497GAsingle_nucleotide_variantUncertain_significanceInborn_genetic_diseasesSO:0001583|missense_variant,SO:0001619|non-coding_transcript_variantSO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant
FMR1chrX147026581TAsingle_nucleotide_variantUncertain_significancenot_providedSO:0001627|intron_variantSO:0001627|intron_variant
FMR1chrX147027062GAsingle_nucleotide_variantUncertain_significanceHistory_of_neurodevelopmental_disorderSO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variantSO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant
FMR1chrX147027125GAsingle_nucleotide_variantUncertain_significancenot_providedSO:0001583|missense_variant,SO:0001619|non-coding_transcript_variantSO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant
FMR1chrX147027144CAsingle_nucleotide_variantLikely_benignnot_specifiedSO:0001627|intron_variantSO:0001627|intron_variant
FMR1chrX147030216GAsingle_nucleotide_variantUncertain_significancenot_providedSO:0001583|missense_variant,SO:0001619|non-coding_transcript_variantSO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant
FMR1chrX147030322CTsingle_nucleotide_variantBenign/Likely_benignHistory_of_neurodevelopmental_disorder|not_specified|not_providedSO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variantSO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant
FMR1chrX147031110TCsingle_nucleotide_variantBenignFragile_X_syndromeSO:0001619|non-coding_transcript_variant,SO:0001624|3_prime_UTR_variantSO:0001619|non-coding_transcript_variant,SO:0001624|3_prime_UTR_variant


check button nsSNVs with sample frequency (size of circle) from TCGA 33 cancers.
all structure


check button SNVs and Indels
GeneCancer typeChromosomeStartEndRefSeeqMutSeqMutation typeAAchange# samples
FMR1BRCAchrX147026442147026442GAMissense_Mutationp.E509K4
FMR1LGGchrX147014240147014240GAMissense_Mutationp.E280K3
FMR1ESCAchrX147011714147011714CGMissense_Mutationp.T194S3
FMR1UCECchrX147018097147018097GAMissense_Mutationp.E319K3
FMR1UCECchrX147026502147026502GTNonsense_Mutationp.G529*3
FMR1UCECchrX147030285147030285CTMissense_Mutationp.T607M3
FMR1BRCAchrX147014261147014261CGMissense_Mutationp.Q287E3
FMR1BRCAchrX147024827147024827CTSilentp.R4843
FMR1LGGchrX147014219147014219A-Frame_Shift_Delp.K274fs3
FMR1BRCAchrX147026507147026507CTSilentp.D5303
FMR1UCECchrX147024819147024819GAMissense_Mutationp.G482S3
FMR1KIRPchrX147013951147013951GTMissense_Mutation2
FMR1SARCchrX147018109147018109GAMissense_Mutationp.E323K2
FMR1STADchrX147009864147009864GCMissense_Mutation2
FMR1UCECchrX147014094147014094AGMissense_Mutationp.T261A2
FMR1DLBCchrX146993715146993715GTSilentp.V6V2
FMR1LIHCchrX147018112147018112A-Frame_Shift_Delp.K324fs2
FMR1UCECchrX147030296147030296CTMissense_Mutationp.R611C2
FMR1BLCAchrX147014278147014278AGSilentp.L292L2
FMR1LUADchrX147009854147009854ATSilentp.A71A2
FMR1LGGchrX147010283147010283TCMissense_Mutationp.F126S2
FMR1STADchrX147009864147009864GCMissense_Mutationp.E75Q2
FMR1UCECchrX147014233147014233CAMissense_Mutationp.S277R2
FMR1ESCAchrX147010265147010265CAMissense_Mutationp.P120H2
FMR1LIHCchrX147030221147030221A-Frame_Shift_Delp.N565fs2
FMR1UCECchrX147030348147030348TCMissense_Mutationp.V628A2
FMR1UCECchrX147024699147024699CTNonsense_Mutationp.R442*2
FMR1SKCMchrX147019005147019005CTSilentp.S337S2
FMR1STADchrX147010200147010200AGSilentp.A98A2
FMR1UCECchrX147014238147014238TCMissense_Mutationp.L279P2
FMR1BRCAchrX147007128147007128ACMissense_Mutationp.I59L2
FMR1HNSCchrX147014272147014272GTMissense_Mutationp.R290S2
FMR1SKCMchrX147022103147022103AGSilentp.V378V2
FMR1UCECchrX147018105147018105ACMissense_Mutationp.E321D2
FMR1UCSchrX147030228147030228GTNonsense_Mutationp.G498*2
FMR1BRCAchrX147027089147027089CGMissense_Mutationp.R564G2
FMR1LUADchrX147024827147024827CASilentp.R463R2
FMR1STADchrX147007065147007065CGMissense_Mutationp.P38A2
FMR1UCECchrX147022171147022171ACMissense_Mutationp.N422T2
FMR1ESCAchrX147011714147011714CGMissense_Mutation2
FMR1SKCMchrX147019652147019652CTMissense_Mutationp.S387F2
FMR1UCECchrX147024667147024667GAMissense_Mutationp.R431H2
FMR1KICHchrX147011711147011711GAMissense_Mutationp.R193H2
FMR1STADchrX147011748147011748TGSilentp.A205A2
FMR1UCECchrX147024799147024799CTMissense_Mutationp.P475L2
FMR1STADchrX147024689147024689TCSilentp.D438D2
FMR1UCECchrX147026511147026511CTMissense_Mutationp.R532W2
FMR1LUADchrX147011469147011469GTMissense_Mutationp.C141F2
FMR1SARCchrX147018109147018109GAMissense_Mutation2
FMR1UCECchrX147010244147010244GAMissense_Mutationp.R113K2
FMR1KIRPchrX147011651147011651TAMissense_Mutationp.I173N2
FMR1LGGchrX147010283147010283TCMissense_Mutation2
FMR1STADchrX147009866147009866GASilentp.E75E2
FMR1UCECchrX147026530147026530GAMissense_Mutationp.G538E2
FMR1UCECchrX147014005147014005GAMissense_Mutationp.G231D2
FMR1CESCchrX147014007147014007CGMissense_Mutation2
FMR1LIHCchrX147003459147003459A-Frame_Shift_Delp.V20fs2
FMR1STADchrX147011719147011719TGMissense_Mutationp.L196V2
FMR1UCECchrX147027072147027072GAMissense_Mutationp.R558Q2
FMR1PAADchrX147024736147024736GAMissense_Mutation2
FMR1CESCchrX147027065147027065CTMissense_Mutation2
FMR1LUADchrX147011491147011491GTMissense_Mutationp.K148N2
FMR1SKCMchrX147026416147026416CTMissense_Mutationp.S479F2
FMR1UCECchrX147014062147014062TCMissense_Mutationp.V250A2
FMR1LIHCchrX147009859147009859A-Frame_Shift_Delp.E73fs2
FMR1STADchrX147019098147019098TCSilentp.P368P2
FMR1UCECchrX147027130147027130CTSilentp.S5772
FMR1LUADchrX147011477147011477GTNonsense_Mutationp.E144*2
FMR1PAADchrX147026464147026464CAMissense_Mutation2
FMR1CESCchrX147011666147011666CGMissense_Mutation1
FMR1LUADchrX147026524147026524GTMissense_Mutationp.G515V1
FMR1LIHCchrX147018098147018098AGMissense_Mutation1
FMR1LUSCchrX147018994147018994CTMissense_Mutationp.P334S1
FMR1STADchrX147027084147027084GAMissense_Mutationp.R562H1
FMR1UCECchrX147019078147019078AGMissense_Mutationp.S362G1
FMR1HNSCchrX147018994147018994CTMissense_Mutation1
FMR1PAADchrX147024736147024736GAMissense_Mutationp.R433H1
FMR1CESCchrX147027065147027065CTMissense_Mutationp.H556Y1
FMR1LUADchrX147011749147011749ATMissense_Mutationp.S206C1
FMR1SARCchrX147007125147007125GTMissense_Mutationp.D58Y1
FMR1LIHCchrX147024653147024653AGSilent1
FMR1LUSCchrX147024736147024736GCMissense_Mutationp.R454P1
FMR1STADchrX147026475147026475GAMissense_Mutationp.E520K1
FMR1BLCAchrX147024795147024795ATNonsense_Mutationp.R453*1
FMR1HNSCchrX147026445147026445CTMissense_Mutationp.L489F1
FMR1LUADchrX147030276147030276GTMissense_Mutationp.R583L1
FMR1PAADchrX147026464147026464CAMissense_Mutationp.A495D1
FMR1CESCchrX147011666147011666CGNonsense_Mutationp.S178*1
FMR1LUADchrX147007065147007065CAMissense_Mutationp.P38T1
FMR1LIHCchrX147018119147018119TCMissense_Mutation1
FMR1LIHCchrX147026523147026523G-Frame_Shift_Delp.G517fs1
FMR1LUSCchrX147030327147030327TAMissense_Mutationp.V621E1
FMR1STADchrX147010315147010315TCSilentp.L137L1
FMR1UCSchrX147030228147030228GTNonsense_Mutationp.G498X1
FMR1LUADchrX147027066147027066ATMissense_Mutationp.H535L1
FMR1PAADchrX147024736147024736GAMissense_Mutationp.R454H1
FMR1COADchrX147010268147010268CTMissense_Mutationp.A121V1
FMR1LGGchrX147026457147026457TCMissense_Mutationp.S493P1
FMR1LUADchrX147014252147014252GATranslation_Start_Site1
FMR1STADchrX147007109147007115TGTAGGT-Frame_Shift_Delp.52_54del1
FMR1ESCAchrX147010265147010265CAMissense_Mutation1
FMR1LIHCchrX147014260147014260A-Frame_Shift_Del1
FMR1LIHCchrX147018099147018099G-Frame_Shift_Delp.E319fs1
FMR1LUSCchrX147011672147011672GTMissense_Mutationp.R180L1
FMR1STADchrX147030286147030286GASilentp.T607T1
FMR1HNSCchrX147026445147026445CTMissense_Mutationp.L510F1
FMR1PAADchrX147026464147026464CAMissense_Mutationp.A516D1
FMR1COADchrX147010320147010320GASilentp.R138R1
FMR1LGGchrX147013976147013976AGSilentp.E221E1
FMR1LUADchrX147011726147011728TGA-In_Frame_Delp.LI198del1
FMR1STADchrX147010206147010206TCSilentp.D100D1
FMR1LIHCchrX147011692147011692ATMissense_Mutationp.M187L1
FMR1LIHCchrX147018104147018104A-Frame_Shift_Delp.E321fs1
FMR1MESOchrX147027061147027061CAMissense_Mutation1
FMR1LUADchrX147019024147019024AGMissense_Mutationp.R344G1
FMR1PRADchrX147024667147024667GAMissense_Mutationp.R410H1
FMR1KICHchrX147011711147011711GAMissense_Mutation1
FMR1COADchrX147014110147014110GAMissense_Mutationp.G266E1
FMR1LGGchrX147014218147014219-AFrame_Shift_Insp.VK272fs1
FMR1LUADchrX147027066147027066ATMissense_Mutationp.H556L1
FMR1STADchrX147030286147030286GAMissense_Mutationp.R517Q1
FMR1STADchrX147007109147007115TGTAGGT-Frame_Shift_Delp.P52fs1
FMR1ESCAchrX146993710146993710GTMissense_Mutationp.V5L1
FMR1LIHCchrX147014058147014058G-Frame_Shift_Delp.G249fs1
FMR1MESOchrX147011702147011702GTMissense_Mutation1
FMR1LUADchrX147014083147014083ATTranslation_Start_Site1
FMR1READchrX147011728147011728AGMissense_Mutationp.I199V1
FMR1SKCMchrX147013963147013963CTMissense_Mutationp.S217L1
FMR1UCECchrX147018035147018036-AFrame_Shift_Insp.G298fs1
FMR1COADchrX147018134147018134TCSplice_Site.1
FMR1LGGchrX147026489147026489C-Frame_Shift_Delp.S503fs1
FMR1LIHCchrX147014109147014109GAMissense_Mutationp.G266R1
FMR1LUADchrX147014083147014083ATMissense_Mutationp.E257V1
FMR1THCAchrX147026458147026458CTMissense_Mutation1
FMR1ESCAchrX147030224147030224GTNonsense_Mutationp.E587X1
FMR1LIHCchrX147010230147010230A-Frame_Shift_Delp.T108fs1
FMR1OVchrX147024700147024700GAMissense_Mutationp.R442Q1
FMR1LUADchrX147018985147018985GCSplice_Sitep.E331_splice1
FMR1SARCchrX147019079147019079GTMissense_Mutation1
FMR1SKCMchrX147011492147011492GAMissense_Mutationp.D149N1
FMR1UCECchrX147019049147019049A-Frame_Shift_Delp.E352fs1
FMR1KIRCchrX147014114147014114GTMissense_Mutationp.E267D1
FMR1COADchrX147024749147024749AGSilentp.E437E1
FMR1LIHCchrX147014260147014260A-Frame_Shift_Delp.I286fs1
FMR1LUADchrX147018985147018985GCMissense_Mutationp.E331Q1
FMR1THCAchrX147026458147026458CTMissense_Mutationp.S514L1
FMR1ACCchrX147030346147030346CANonsense_Mutationp.S537X1
FMR1ESCAchrX147011476147011476AGSilentp.K143K1
FMR1LIHCchrX147022111147022111T-Frame_Shift_Delp.V381fs1
FMR1OVchrX146837974146837974GAMissense_Mutationp.R606H1
FMR1SKCMchrX147010284147010284CTSilentp.F126F1
FMR1COADchrX147030282147030282GAMissense_Mutationp.A495T1
FMR1LIHCchrX147019644147019645-GFrame_Shift_Insp.AG384fs1
FMR1LUADchrX147026523147026524GGATMissense_Mutationp.G536M1
FMR1THCAchrX147026458147026458CTMissense_Mutationp.S493L1
FMR1ACCchrX147030346147030346CANonsense_Mutationp.S516X1
FMR1GBMchrX147003463147003463GTMissense_Mutation1
FMR1LUADchrX147024765147024765GTMissense_Mutationp.D443Y1
FMR1OVchrX147009912147009912GTSplice_Sitee4+11
FMR1LUADchrX147026523147026523GAMissense_Mutationp.G515R1
FMR1SARCchrX147007125147007125GTMissense_Mutation1
FMR1SKCMchrX147024747147024747GAMissense_Mutationp.E437K1
FMR1KIRPchrX147014033147014033TCSilentp.N240N1
FMR1COADchrX147024825147024825CTMissense_Mutationp.R463C1
FMR1LGGchrX147013976147013976AGMissense_Mutation1
FMR1LUSCchrX147024824147024824AGSilentp.R483R1
FMR1THYMchrX147007068147007068GTMissense_Mutationp.D39Y1
FMR1ACCchrX147030346147030346CANonsense_Mutationp.S537*1
FMR1HNSCchrX147022094147022094GTSplice_Site1
FMR1LUADchrX147010237147010237CTMissense_Mutationp.R111C1
FMR1KIRPchrX147030261147030261CAMissense_Mutation1
FMR1SARCchrX146993706146993706GTMissense_Mutation1
FMR1COADchrX147030281147030281CTMissense_Mutationp.R560C1
FMR1LGGchrX147026457147026457TCMissense_Mutation1
FMR1LUSCchrX147009842147009842GTSilentp.V67V1
FMR1BLCAchrX147014278147014278AGSilent1
FMR1HNSCchrX147014059147014059GTMissense_Mutation1

check buttonCopy number variation (CNV) of FMR1
* Click on the image to open the original image in a new window.
all structure

check buttonFusion gene breakpoints (product of the structural variants (SVs)) across FMR1
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure


check button Fusion genes with this translation factor from FusionGDB2.0.
FusionGDB2 IDDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
82717N/ACV404864ECHDC2chr153380619+FMR1chrX147002462-
30785LGGTCGA-CS-4942-01AFMR1chrX147003503+AFF2chrX147733520+
77429OVTCGA-23-2081FMR1chrX146993748+ATRXchrX76829823-
102918HNSCTCGA-CV-A45UFMR1chrX146993748+FIP1L1chr454265896+
92750LUSCTCGA-37-4133FMR1chrX146993748+GPC3chrX132730627-
63369STADTCGA-VQ-AA6GFMR1chrX146993748+MTM1chrX149826293+
69503STADTCGA-CG-5721FMR1chrX146993748+NDUFS6chr51814452+
85668N/AEC574309FMR1chrX146998088+SPECC1L-ADORA2Achr2224811977-
82717N/ABF083070HN1Lchr161749663+FMR1chrX147027136-
82717N/AAW801819NAA25chr12112488811-FMR1chrX147030915+
82717N/ABE813282SLC25A46chr5110100559-FMR1chrX147006742-


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Prognostic Analysis


check button Kaplan-Meier plots with logrank tests of overall survival (OS)
all structure
Cancer typeTranslation factorCoefficentHazard ratioWald test pvalLikelihool ratio pvalLogrank test pval# samples


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Translation factor and Gender


check button Differential gene expression between female and male. (Wilcoxon test, pval<0.05)
all structure
Cancer typeTranslation factorpvaladj.p
SARCFMR10.002978170469553480.08
LIHCFMR10.01546401376187570.4
LGGFMR10.02856147108902630.71
KIRCFMR18.44537518932935e-060.00024

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Translation factor and Age


check button Differential gene expression between young and old age groups (Wilcoxon test, pval<0.05)
all structure
Cancer typeTranslation factorpvaladj.p
KIRCFMR10.02530380173592090.76
GBMFMR10.02548636125406690.76
LGGFMR10.04887258011750561
BRCAFMR10.02325665645073720.74
ESCAFMR10.04169177749454471
ACCFMR10.0238435369616980.74
SARCFMR10.02176654345630080.72

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Related Drugs


check button Drugs targeting genes involved in this translation factor.
(DrugBank Version 5.1.8 2021-05-08)
UniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases


check button Diseases associated with this translation factor.
(DisGeNet 4.0)
Disease IDDisease Name# PubMedsDisease source
C0016667Fragile X Syndrome37CLINGEN;CTD_human;GENOMICS_ENGLAND;UNIPROT
C0751156FRAXA Syndrome8CTD_human
C0751157FRAXE Syndrome8CTD_human
C0004352Autistic Disorder5CTD_human
C0020796Profound Mental Retardation2CTD_human
C0036341Schizophrenia2PSYGENET
C0041696Unipolar Depression2PSYGENET
C0917816Mental deficiency2CTD_human
C1269683Major Depressive Disorder2PSYGENET
C1839780FRAGILE X TREMOR/ATAXIA SYNDROME2CTD_human;GENOMICS_ENGLAND;ORPHANET
C0018051Gonadal Dysgenesis1CTD_human
C0085215Ovarian Failure, Premature1CTD_human
C0086367Gonadotropin-Resistant Ovary Syndrome1CTD_human
C0338908Mixed anxiety and depressive disorder1PSYGENET
C0376280Anxiety States, Neurotic1CTD_human
C0949331Gonadal Agenesis1CTD_human
C1279420Anxiety neurosis (finding)1CTD_human
C3275521CHROMOSOME Xq27.3-q28 DUPLICATION SYNDROME1ORPHANET
C3494522Hypergonadotropic Ovarian Failure, X-Linked1CTD_human
C4552079Premature Ovarian Failure 11CTD_human;GENOMICS_ENGLAND