Summary ?
GeneID2332
SymbolFMR1
SynonymsFMRP|FRAXA|POF|POF1
Descriptionfragile X mental retardation 1
ReferenceMIM:309550|HGNC:HGNC:3775|Ensembl:ENSG00000102081|HPRD:02398|Vega:OTTHUMG00000022606
Gene typeprotein-coding
Map locationXq27.3
Sherlock p-value0.675
Fetal beta-0.109
SupportPotential synaptic genes

Gene in Data Sources
Gene set name Method of gene setDescriptionInfo
CV:PGCnpGenome-wide Association StudyGWAS
PMID:cooccurHigh-throughput literature-searchSystematic search in PubMed for genes co-occurring with SCZ keywords. A total of 3027 genes were included.
LiteratureHigh-throughput literature-searchCo-occurance with Schizophrenia keywords: schizophrenia,schizophrenic,schizophrenias,schizotypalClick to show details
GO_AnnotationMapping neuro-related keywords to Gene Ontology annotationsHits with neuro-related keywords: 1 

Section I. Genetics and epigenetics annotation


Section II. Transcriptome annotation

General gene expression (GTEx)

Not available

Gene expression during devlopment (BrainCloud)

Footnote:
A total of 269 time points ploted, with n=38 fetal samples (x=1:38). Each triangle represents one time point.

Gene expression of temporal and spatial changes (BrainSpan)

Footnote:
SC: sub-cortical regions; SM: sensory-motor regions; FC: frontal cortex; and TP: temporal-parietal cortex
ST1: fetal (13 - 26 postconception weeks), ST2: early infancy to late childhood (4 months to 11 years), and ST3: adolescence to adulthood (13 - 23 years)
The bar shown representes the lower 25% and upper 25% of the expression distribution.

Top co-expressed genes in brain regions

Top 10 positively co-expressed genes
GenePearson's Correlation Spearman's Correlation
CP0.910.50
KCNJ130.900.41
CLIC60.900.45
TTR0.890.54
F50.880.33
SLC13A40.880.27
PRLR0.850.20
SLC5A50.850.24
ABCA40.840.30
TRPV40.820.31
Top 10 negatively co-expressed genes
GenePearson's Correlation Spearman's Correlation
EPHB6-0.17-0.36
IER5L-0.16-0.53
CIDEA-0.15-0.49
RND1-0.15-0.37
ARL4D-0.15-0.48
LNX1-0.14-0.41
CACNB3-0.14-0.38
MEF2C-0.14-0.59
LDB2-0.14-0.46
EFNA5-0.14-0.51

Section III. Gene Ontology annotation

Molecular functionGO termEvidenceNeuro keywordsPubMed ID
GO:0003723RNA bindingIEA-
GO:0003729mRNA bindingTAS7692601 
GO:0005515protein bindingIPI10556305 |16407062 
Biological processGO termEvidenceNeuro keywordsPubMed ID
GO:0007417central nervous system developmentIEABrain (GO term level: 6)-
GO:0006810transportIEA-
GO:0051028mRNA transportIEA-
Cellular componentGO termEvidenceNeuro keywordsPubMed ID
GO:0005625soluble fractionTAS8401578 
GO:0005634nucleusIEA-
GO:0005654nucleoplasmTAS10888599 
GO:0005730nucleolusTAS16407062 
GO:0005737cytoplasmTAS16407062 
GO:0042788polysomal ribosomeTAS12837692 

Section IV. Protein-protein interaction annotation

InteractorsAliases BOfficial full name BExperimentalSourcePubMed ID
CYFIP1FLJ45151 | P140SRA-1 | SHYC | SRA1cytoplasmic FMR1 interacting protein 1-HPRD,BioGRID11438699 
CYFIP2PIR121cytoplasmic FMR1 interacting protein 2-HPRD,BioGRID11438699 
FMR1FMRP | FRAXA | MGC87458 | POF | POF1fragile X mental retardation 1Affinity Capture-WesternBioGRID10567518 
FXR1-fragile X mental retardation, autosomal homolog 1-HPRD,BioGRID7489725 |8668200 
FXR2FMR1L2fragile X mental retardation, autosomal homolog 2-HPRD,BioGRID7489725 |8668200 
|10567518 
MAP1BDKFZp686E1099 | DKFZp686F1345 | FLJ38954 | FUTSCH | MAP5microtubule-associated protein 1BFMR1 (FMRP) interacts with MAP1B mRNA. This interaction was modeled on a demonstrated interaction between FMR1 from an unspecified species and human MAP1B mRNA.BIND15381419 
NCLC23 | FLJ45706nucleolinAffinity Capture-WesternBioGRID10567518 
NUFIP1NUFIP | bA540M5.1nuclear fragile X mental retardation protein interacting protein 1-HPRD,BioGRID10556305 
NUFIP2182-FIP | 82-FIP | FIP-82 | FLJ10976 | KIAA1321 | MGC117262 | PIG1nuclear fragile X mental retardation protein interacting protein 2-HPRD,BioGRID12837692 
RANBP9RANBPMRAN binding protein 9FMR1 (FMRP) interacts with RANBP9 (RanBPM).BIND15381419 
UBE2IC358B7.1 | P18 | UBC9ubiquitin-conjugating enzyme E2I (UBC9 homolog, yeast)-HPRD,BioGRID11367701 


Section V. Pathway annotation

Pathway namePathway size# SZGR 2.0 genes in pathwayInfo
DAVICIONI PAX FOXO1 SIGNATURE IN ARMS UP 5938All SZGR 2.0 genes in this pathway
DAVICIONI TARGETS OF PAX FOXO1 FUSIONS UP 255177All SZGR 2.0 genes in this pathway
FULCHER INFLAMMATORY RESPONSE LECTIN VS LPS DN 463290All SZGR 2.0 genes in this pathway
GARY CD5 TARGETS DN 431263All SZGR 2.0 genes in this pathway
LAIHO COLORECTAL CANCER SERRATED DN 8647All SZGR 2.0 genes in this pathway
SLEBOS HEAD AND NECK CANCER WITH HPV UP 8443All SZGR 2.0 genes in this pathway
ENK UV RESPONSE KERATINOCYTE DN 485334All SZGR 2.0 genes in this pathway
GRAESSMANN APOPTOSIS BY DOXORUBICIN DN 17811082All SZGR 2.0 genes in this pathway
MCBRYAN PUBERTAL TGFB1 TARGETS UP 169127All SZGR 2.0 genes in this pathway
FARMER BREAST CANCER APOCRINE VS BASAL 330217All SZGR 2.0 genes in this pathway
SCHLOSSER SERUM RESPONSE DN 712443All SZGR 2.0 genes in this pathway
SPIELMAN LYMPHOBLAST EUROPEAN VS ASIAN DN 584395All SZGR 2.0 genes in this pathway
SHEN SMARCA2 TARGETS UP 424268All SZGR 2.0 genes in this pathway
FLECHNER BIOPSY KIDNEY TRANSPLANT REJECTED VS OK DN 546351All SZGR 2.0 genes in this pathway
HADDAD B LYMPHOCYTE PROGENITOR 293193All SZGR 2.0 genes in this pathway
PAL PRMT5 TARGETS UP 203135All SZGR 2.0 genes in this pathway
IVANOVA HEMATOPOIESIS STEM CELL 254164All SZGR 2.0 genes in this pathway
SANSOM APC MYC TARGETS 217138All SZGR 2.0 genes in this pathway
FOSTER TOLERANT MACROPHAGE DN 409268All SZGR 2.0 genes in this pathway
LABBE WNT3A TARGETS DN 9753All SZGR 2.0 genes in this pathway
SWEET LUNG CANCER KRAS UP 491316All SZGR 2.0 genes in this pathway
SWEET LUNG CANCER KRAS DN 435289All SZGR 2.0 genes in this pathway
ZHANG TLX TARGETS 36HR DN 185116All SZGR 2.0 genes in this pathway
PYEON CANCER HEAD AND NECK VS CERVICAL UP 19395All SZGR 2.0 genes in this pathway
JOHNSTONE PARVB TARGETS 3 DN 918550All SZGR 2.0 genes in this pathway
WAKABAYASHI ADIPOGENESIS PPARG RXRA BOUND 8D 882506All SZGR 2.0 genes in this pathway

Section VI. microRNA annotation

miRNA familyTarget positionmiRNA IDmiRNA seq
UTR startUTR endMatch method
miR-101162016261Ahsa-miR-101UACAGUACUGUGAUAACUGAAG
miR-124/506544550m8hsa-miR-506UAAGGCACCCUUCUGAGUAGA
hsa-miR-124brainUAAGGCACGCGGUGAAUGCC
miR-125/3515956011Ahsa-miR-125bbrainUCCCUGAGACCCUAACUUGUGA
hsa-miR-125abrainUCCCUGAGACCCUUUAACCUGUG
miR-129-5p5235301A,m8hsa-miR-129brainCUUUUUGCGGUCUGGGCUUGC
hsa-miR-129-5pCUUUUUGCGGUCUGGGCUUGCU
miR-130/301200920151Ahsa-miR-130abrainCAGUGCAAUGUUAAAAGGGCAU
hsa-miR-301CAGUGCAAUAGUAUUGUCAAAGC
hsa-miR-130bbrainCAGUGCAAUGAUGAAAGGGCAU
hsa-miR-454-3pUAGUGCAAUAUUGCUUAUAGGGUUU
hsa-miR-130abrainCAGUGCAAUGUUAAAAGGGCAU
hsa-miR-301CAGUGCAAUAGUAUUGUCAAAGC
hsa-miR-130bbrainCAGUGCAAUGAUGAAAGGGCAU
hsa-miR-454-3pUAGUGCAAUAUUGCUUAUAGGGUUU
miR-132/212188518911Ahsa-miR-212SZUAACAGUCUCCAGUCACGGCC
hsa-miR-132brainUAACAGUCUACAGCCAUGGUCG
miR-13621132119m8hsa-miR-136ACUCCAUUUGUUUUGAUGAUGGA
miR-139162116281A,m8hsa-miR-139brainUCUACAGUGCACGUGUCU
miR-141/200a7767821Ahsa-miR-141UAACACUGUCUGGUAAAGAUGG
hsa-miR-200aUAACACUGUCUGGUAACGAUGU
miR-144161916261A,m8hsa-miR-144UACAGUAUAGAUGAUGUACUAG
miR-148/1527567631A,m8hsa-miR-148aUCAGUGCACUACAGAACUUUGU
hsa-miR-152brainUCAGUGCAUGACAGAACUUGGG
hsa-miR-148bUCAGUGCAUCACAGAACUUUGU
miR-153175317591Ahsa-miR-153UUGCAUAGUCACAAAAGUGA
miR-181155015561Ahsa-miR-181abrainAACAUUCAACGCUGUCGGUGAGU
hsa-miR-181bSZAACAUUCAUUGCUGUCGGUGGG
hsa-miR-181cbrainAACAUUCAACCUGUCGGUGAGU
hsa-miR-181dbrainAACAUUCAUUGUUGUCGGUGGGUU
miR-182151015171A,m8hsa-miR-182UUUGGCAAUGGUAGAACUCACA
miR-19158415901Ahsa-miR-19aUGUGCAAAUCUAUGCAAAACUGA
hsa-miR-19bUGUGCAAAUCCAUGCAAAACUGA
hsa-miR-19aUGUGCAAAUCUAUGCAAAACUGA
hsa-miR-19bUGUGCAAAUCCAUGCAAAACUGA
miR-19418861892m8hsa-miR-194UGUAACAGCAACUCCAUGUGGA
hsa-miR-194UGUAACAGCAACUCCAUGUGGA
miR-200bc/429468474m8hsa-miR-200bUAAUACUGCCUGGUAAUGAUGAC
hsa-miR-200cUAAUACUGCCGGGUAAUGAUGG
hsa-miR-429UAAUACUGUCUGGUAAAACCGU
miR-203.14264321Ahsa-miR-203UGAAAUGUUUAGGACCACUAG
miR-205127612821Ahsa-miR-205UCCUUCAUUCCACCGGAGUCUG
miR-221/2226316381A,m8hsa-miR-221brainAGCUACAUUGUCUGCUGGGUUUC
hsa-miR-222brainAGCUACAUCUGGCUACUGGGUCUC
miR-23127312791Ahsa-miR-23abrainAUCACAUUGCCAGGGAUUUCC
hsa-miR-23bbrainAUCACAUUGCCAGGGAUUACC
hsa-miR-23abrainAUCACAUUGCCAGGGAUUUCC
hsa-miR-23bbrainAUCACAUUGCCAGGGAUUACC
miR-24*88951A,m8hsa-miR-189GUGCCUACUGAGCUGAUAUCAGU
miR-25/32/92/363/367173817451A,m8hsa-miR-25brainCAUUGCACUUGUCUCGGUCUGA
hsa-miR-32UAUUGCACAUUACUAAGUUGC
hsa-miR-92UAUUGCACUUGUCCCGGCCUG
hsa-miR-367AAUUGCACUUUAGCAAUGGUGA
hsa-miR-92bSZUAUUGCACUCGUCCCGGCCUC
miR-323206420701Ahsa-miR-323brainGCACAUUACACGGUCGACCUCU
miR-324-3p2732791Ahsa-miR-324-3pCCACUGCCCCAGGUGCUGCUGG
miR-324-5p5845901Ahsa-miR-324-5pCGCAUCCCCUAGGGCAUUGGUGU
miR-33516651671m8hsa-miR-335brainUCAAGAGCAAUAACGAAAAAUGU
miR-369-3p5745801Ahsa-miR-369-3pAAUAAUACAUGGUUGAUCUUU
miR-374574580m8hsa-miR-374UUAUAAUACAACCUGAUAAGUG
miR-377493499m8hsa-miR-377AUCACACAAAGGCAACUUUUGU
miR-41012981304m8hsa-miR-410AAUAUAACACAGAUGGCCUGU
hsa-miR-410AAUAUAACACAGAUGGCCUGU
miR-448175317591Ahsa-miR-448UUGCAUAUGUAGGAUGUCCCAU
hsa-miR-448UUGCAUAUGUAGGAUGUCCCAU
miR-4505235291Ahsa-miR-450UUUUUGCGAUGUGUUCCUAAUA
miR-485-3p534540m8hsa-miR-485-3pGUCAUACACGGCUCUCCUCUCU
miR-490109010961Ahsa-miR-490CAACCUGGAGGACUCCAUGCUG
miR-496223722431Ahsa-miR-496AUUACAUGGCCAAUCUC
miR-5436216271Ahsa-miR-543AAACAUUCGCGGUGCACUUCU
miR-975811Ahsa-miR-9SZUCUUUGGUUAUCUAGCUGUAUGA
miR-96151115171Ahsa-miR-96brainUUUGGCACUAGCACAUUUUUGC