AutismKB 2.0

Annotation Detail for FMR1


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Basic Information Top
Gene Symbol:FMR1 ( FMRP,FRAXA,MGC87458,POF,POF1 )
Gene Full Name: fragile X mental retardation 1
Band: Xq27.3
Quick LinksEntrez ID:2332; OMIM: 309550; Uniprot ID:FMR1_HUMAN; ENSEMBL ID: ENSG00000102081; HGNC ID: 3775
Relate to Another Database: SFARIGene; denovo-db
Unigene EST Top
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
embryoid body10 / 70761141
blastocyst0 / 623190 
fetus12 / 56401221
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult74 / 193912138
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma0 / 174750 
breast (mammary gland) tumor2 / 9417821
cervical tumor2 / 3436658
chondrosarcoma1 / 8282312
colorectal tumor3 / 11424626
esophageal tumor0 / 172900 
gastrointestinal tumor4 / 11936933
germ cell tumor13 / 26384549
glioma0 / 1068830 
head and neck tumor2 / 13630214
kidney tumor1 / 6895914
leukemia5 / 9584252
liver tumor1 / 9635910
lung tumor4 / 10312738
lymphoma1 / 7175513
non-neoplasia6 / 9725061
normal136 / 336030740
ovarian tumor2 / 7668226
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer7 / 10268068
retinoblastoma0 / 463560 
skin tumor3 / 12494924
soft tissue/muscle tissue tumor6 / 12519147
uterine tumor8 / 9025788
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland2 / 3319760
ascites2 / 4001549
bladder0 / 297570 
blood6 / 12347848
bone0 / 716550 
bone marrow0 / 488010 
brain28 / 110098925
cervix2 / 4817141
connective tissue1 / 1492556
ear1 / 1621261
embryonic tissue16 / 21572274
esophagus0 / 202090 
eye3 / 21105414
heart0 / 896260 
intestine10 / 23447242
kidney23 / 211777108
larynx0 / 241450 
liver6 / 20774328
lung11 / 33697432
lymph0 / 442700 
lymph node12 / 91610130
mammary gland5 / 15327132
mouth1 / 6705214
muscle3 / 10771527
nerve0 / 157680 
ovary4 / 10205139
pancreas5 / 21481223
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta15 / 28082553
prostate7 / 18934536
salivary gland0 / 201550 
skin4 / 21057418
spleen3 / 5395255
stomach2 / 9661920
testis4 / 33044212
thymus3 / 8113136
thyroid1 / 4747321
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord0 / 136800 
uterus22 / 23287894
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 203689_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts42.25
Adipocyte20.4
AdrenalCortex26.35
Adrenalgland18.05
Amygdala59.9
Appendix39.5
AtrioventricularNode34.05
BDCA4+_DentriticCells57.55
Bonemarrow21.85
BronchialEpithelialCells18.85
CD105+_Endothelial27.3
CD14+_Monocytes66.45
CD19+_BCells(neg._sel.)67.6
CD33+_Myeloid57.55
CD34+38.6
CD4+_Tcells113.75
CD56+_NKCells130.95
CD71+_EarlyErythroid38.35
CD8+_Tcells250.3
CardiacMyocytes21.8
Caudatenucleus21.05
Cerebellum44.8
CerebellumPeduncles53.1
CiliaryGanglion23.5
CingulateCortex42.2
Colorectaladenocarcinoma27.9
DorsalRootGanglion25.3
FetalThyroid37
Fetalbrain76.9
Fetalliver27.7
Fetallung42.35
GlobusPallidus22.8
Heart28.35
Hypothalamus48.85
Kidney21.85
Leukemia_chronicMyelogenousK-56220.25
Leukemia_promyelocytic-HL-6026.8
Leukemialymphoblastic(MOLT-4)24.85
Liver15.8
Lung13.65
Lymphnode27.7
Lymphoma_burkitts(Daudi)51.05
Lymphoma_burkitts(Raji)33.45
MedullaOblongata23.15
OccipitalLobe98.95
OlfactoryBulb19.75
Ovary29.05
Pancreas25.15
PancreaticIslet27.8
ParietalLobe37.3
Pituitary47.9
Placenta187.65
Pons28.25
PrefrontalCortex106.2
Prostate26
Salivarygland23.5
SkeletalMuscle25.4
Skin24.3
SmoothMuscle21.15
Spinalcord31.55
SubthalamicNucleus38.65
SuperiorCervicalGanglion32.65
TemporalLobe22.9
Testis13.55
TestisGermCell20.15
TestisIntersitial17.2
TestisLeydigCell28
TestisSeminiferousTubule19.35
Thalamus29.9
Thymus27.7
Thyroid82.85
Tongue23.95
Tonsil27.8
Trachea23.85
TrigeminalGanglion29.6
Uterus47.9
UterusCorpus23.45
WholeBlood110
Wholebrain82.75
colon54.55
pineal_day93
pineal_night94.5
retina48.475
small_intestine27.8
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P93967
  • Donor H0351.2001
  • Sex: Male     Age: 24 years     Race/Ethnicity: African American     Handedness: Left
  • Tissue Receipt Date: 7/29/2009     Serology: Pass      Tissue pH :6.72     Additional Medical Information :History of asthma
  • Postmortem Interval: 23 hours (estimated time of death to time that tissue is frozen)
  • Toxicology: Positive for atropine and caffeine, at levels usually not toxicologically significant
Tissue Expression(mean ± stddev) Expression Bar
Amygdala8.87 ± 0.21
Basal Forebrain8.89 ± 0.15
Basal Part of Pons8.89 ± 0.17
Cerebellar Cortex8.96 ± 0.1
Cerebellar Nuclei8.77 ± 0.23
Claustrum8.82 ± 0.23
Epithalamus8.94 ± 0.32
Frontal Lobe8.89 ± 0.21
Globus Pallidus8.95 ± 0.14
Hypothalamus8.72 ± 0.13
Insula8.83 ± 0.23
Limbic Lobe8.65 ± 0.23
Mesencephalon8.84 ± 0.22
Myelencephalon8.78 ± 0.26
Occipital Lobe8.66 ± 0.27
Parietal Lobe8.91 ± 0.2
Pontine Tegmentum8.82 ± 0.24
Striatum8.36 ± 0.16
Subthalamus9.1 ± 0.16
Temporal Lobe8.82 ± 0.2
Thalamus8.84 ± 0.22
White Matter8.86 ± 0.14
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
FMR1_HUMAN_1 9 1 9 MEELVVEVR PRIDE
FMR1_HUMAN_41 8 41 48 QIPFHDVR PRIDE
FMR1_HUMAN_443 12 443 454 QIGASSRPPPNR PRIDE
PAp00026328 29 246 274 KVPGVTAIDLDEDTCTFHIYGEDQDAVKK Peptide Atlas

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018


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