AutismKB 2.0

Annotation Detail for FXR1


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Basic Information Top
Gene Symbol:FXR1 ( FXR1P )
Gene Full Name: fragile X mental retardation, autosomal homolog 1
Band: 3q26.33
Quick LinksEntrez ID:8087; OMIM: 600819; Uniprot ID:FXR1_HUMAN; ENSEMBL ID: ENSG00000114416; HGNC ID: 4023
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 body11 / 70761155
blastocyst20 / 62319320
fetus103 / 564012182
neonate9 / 31097289
infant4 / 23620169
juvenile28 / 55556503
adult272 / 1939121140
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma1 / 1747557
breast (mammary gland) tumor20 / 94178212
cervical tumor7 / 34366203
chondrosarcoma15 / 82823181
colorectal tumor9 / 11424678
esophageal tumor7 / 17290404
gastrointestinal tumor10 / 11936983
germ cell tumor65 / 263845246
glioma19 / 106883177
head and neck tumor32 / 136302234
kidney tumor8 / 68959116
leukemia9 / 9584293
liver tumor15 / 96359155
lung tumor12 / 103127116
lymphoma4 / 7175555
non-neoplasia18 / 97250185
normal527 / 3360307156
ovarian tumor7 / 7668291
pancreatic tumor10 / 10461695
primitive neuroectodermal tumor of the CNS34 / 125680270
prostate cancer5 / 10268048
retinoblastoma5 / 46356107
skin tumor6 / 12494948
soft tissue/muscle tissue tumor16 / 125191127
uterine tumor9 / 9025799
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland6 / 33197180
ascites5 / 40015124
bladder2 / 2975767
blood17 / 123478137
bone16 / 71655223
bone marrow5 / 48801102
brain165 / 1100989149
cervix7 / 48171145
connective tissue26 / 149255174
ear2 / 16212123
embryonic tissue51 / 215722236
esophagus7 / 20209346
eye18 / 21105485
heart35 / 89626390
intestine18 / 23447276
kidney29 / 211777136
larynx5 / 24145207
liver25 / 207743120
lung38 / 336974112
lymph2 / 4427045
lymph node8 / 9161087
mammary gland24 / 153271156
mouth18 / 67052268
muscle15 / 107715139
nerve2 / 15768126
ovary8 / 10205178
pancreas16 / 21481274
parathyroid4 / 20539194
pharynx2 / 4132848
pituitary gland1 / 1658560
placenta34 / 280825121
prostate17 / 18934589
salivary gland0 / 201550 
skin14 / 21057466
spleen8 / 53952148
stomach12 / 96619124
testis90 / 330442272
thymus53 / 81131653
thyroid14 / 47473294
tonsil0 / 169990 
trachea7 / 52413133
umbilical cord2 / 13680146
uterus47 / 232878201
vascular10 / 51780193
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 201637_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts614.4
Adipocyte84.1
AdrenalCortex38.55
Adrenalgland5.85
Amygdala15.75
Appendix16.7
AtrioventricularNode9.4
BDCA4+_DentriticCells395.5
Bonemarrow9.4
BronchialEpithelialCells326.7
CD105+_Endothelial195
CD14+_Monocytes269.95
CD19+_BCells(neg._sel.)336
CD33+_Myeloid257.65
CD34+649.45
CD4+_Tcells215.75
CD56+_NKCells325.25
CD71+_EarlyErythroid58.25
CD8+_Tcells219.15
CardiacMyocytes122.05
Caudatenucleus11.05
Cerebellum4.6
CerebellumPeduncles11.65
CiliaryGanglion8.65
CingulateCortex11.35
Colorectaladenocarcinoma238.7
DorsalRootGanglion11.55
FetalThyroid100.35
Fetalbrain65.7
Fetalliver45.9
Fetallung154
GlobusPallidus5.2
Heart5.7
Hypothalamus88.6
Kidney4.05
Leukemia_chronicMyelogenousK-562344.7
Leukemia_promyelocytic-HL-60364.85
Leukemialymphoblastic(MOLT-4)320.3
Liver5.9
Lung8.65
Lymphnode107.3
Lymphoma_burkitts(Daudi)513.6
Lymphoma_burkitts(Raji)316.7
MedullaOblongata16.85
OccipitalLobe23.95
OlfactoryBulb118.8
Ovary45.6
Pancreas73.6
PancreaticIslet170.55
ParietalLobe10.85
Pituitary161
Placenta8.6
Pons12.25
PrefrontalCortex96.55
Prostate24.05
Salivarygland46.9
SkeletalMuscle112.15
Skin10.15
SmoothMuscle394.15
Spinalcord88.5
SubthalamicNucleus7.9
SuperiorCervicalGanglion15.6
TemporalLobe12.75
Testis165.5
TestisGermCell975.35
TestisIntersitial1348.05
TestisLeydigCell628.9
TestisSeminiferousTubule640.25
Thalamus20.7
Thymus36.9
Thyroid86
Tongue58.2
Tonsil102.25
Trachea22.7
TrigeminalGanglion15
Uterus111.9
UterusCorpus26.05
WholeBlood297.3
Wholebrain7.65
colon18.7
pineal_day53.24
pineal_night60.04
retina41.775
small_intestine13.55
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_580_PI417507815
  • 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
Amygdala9.09 ± 0.23
Basal Forebrain9.31 ± 0.18
Basal Part of Pons9.33 ± 0.11
Cerebellar Cortex9.22 ± 0.11
Cerebellar Nuclei9.75 ± 0.23
Claustrum9.31 ± 0.19
Epithalamus9.49 ± 0.18
Frontal Lobe9.29 ± 0.24
Globus Pallidus9.96 ± 0.18
Hypothalamus9.54 ± 0.16
Insula9.2 ± 0.15
Limbic Lobe9.17 ± 0.23
Mesencephalon9.39 ± 0.27
Myelencephalon9.28 ± 0.23
Occipital Lobe9.14 ± 0.26
Parietal Lobe9.28 ± 0.22
Pontine Tegmentum9.33 ± 0.22
Striatum9.14 ± 0.25
Subthalamus9.64 ± 0.22
Temporal Lobe9.24 ± 0.19
Thalamus9.27 ± 0.18
White Matter10.25 ± 0.23
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Fxr1hCBCerebellum60.63
100
Fxr1hCTXCerebral cortex100
100
Fxr1hHIPHippocampal region100
100
Fxr1hHPFHippocampal formation100
100
Fxr1hHYHypothalamus100
100
Fxr1hLSXLateral septal complex100
100
Fxr1hMBMidbrain100
100
Fxr1hMYMedulla100
100
Fxr1hOLFOlfactory bulb100
100
Fxr1hPPons96.58
100
Fxr1hPALPallidum100
100
Fxr1hRHPRetrohippocampal region100
100
Fxr1hsAMYStriatum-like amygdalar nuclei100
100
Fxr1hSTRStriatum100
100
Fxr1hSTRdStriatum dorsal region100
100
Fxr1hSTRvStriatum ventral region100
100
Fxr1hTHThalamus100
100
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
FXR1_HUMAN_180 11 180 190 RVNILSDMHLR PRIDE
FXR1_HUMAN_227 19 227 245 EDLMGLAIGTHGSNIQQAR PRIDE
FXR1_HUMAN_329 13 329 341 EDGMVPFVFVGTK PRIDE
FXR1_HUMAN_41 8 41 48 QVPFNEVR PRIDE
FXR1_HUMAN_57 13 57 69 EISEGDEVEVYSR PRIDE
PAp00001425 24 44 67 CTVDVPEDLREACANENAHKDFKK 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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