AutismKB 2.0

Annotation Detail for FGFR1


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Basic Information Top
Gene Symbol:FGFR1 ( BFGFR,CD331,CEK,FGFBR,FLG,FLJ99988,FLT2,HBGFR,KAL2,N-SAM,OGD )
Gene Full Name: fibroblast growth factor receptor 1
Band: 8p11.23
Quick LinksEntrez ID:2260; OMIM: 136350; Uniprot ID:FGFR1_HUMAN; ENSEMBL ID: ENSG00000077782; HGNC ID: 3688
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 body19 / 70761268
blastocyst53 / 62319850
fetus40 / 56401270
neonate4 / 31097128
infant0 / 236200 
juvenile6 / 55556107
adult235 / 1939121121
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor2 / 12794156
bladder carcinoma0 / 174750 
breast (mammary gland) tumor9 / 9417895
cervical tumor2 / 3436658
chondrosarcoma40 / 82823482
colorectal tumor3 / 11424626
esophageal tumor1 / 1729057
gastrointestinal tumor3 / 11936925
germ cell tumor106 / 263845401
glioma2 / 10688318
head and neck tumor7 / 13630251
kidney tumor14 / 68959203
leukemia5 / 9584252
liver tumor16 / 96359166
lung tumor1 / 1031279
lymphoma1 / 7175513
non-neoplasia14 / 97250143
normal426 / 3360307126
ovarian tumor18 / 76682234
pancreatic tumor18 / 104616172
primitive neuroectodermal tumor of the CNS6 / 12568047
prostate cancer2 / 10268019
retinoblastoma2 / 4635643
skin tumor1 / 1249498
soft tissue/muscle tissue tumor10 / 12519179
uterine tumor14 / 90257155
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland2 / 3319760
ascites0 / 400150 
bladder0 / 297570 
blood5 / 12347840
bone16 / 71655223
bone marrow4 / 4880181
brain118 / 1100989107
cervix3 / 4817162
connective tissue35 / 149255234
ear1 / 1621261
embryonic tissue107 / 215722496
esophagus1 / 2020949
eye25 / 211054118
heart7 / 8962678
intestine15 / 23447263
kidney23 / 211777108
larynx3 / 24145124
liver16 / 20774377
lung28 / 33697483
lymph0 / 442700 
lymph node7 / 9161076
mammary gland15 / 15327197
mouth4 / 6705259
muscle6 / 10771555
nerve6 / 15768380
ovary45 / 102051440
pancreas32 / 214812148
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland2 / 16585120
placenta42 / 280825149
prostate11 / 18934558
salivary gland0 / 201550 
skin7 / 21057433
spleen1 / 5395218
stomach2 / 9661920
testis83 / 330442251
thymus6 / 8113173
thyroid2 / 4747342
tonsil1 / 1699958
trachea20 / 52413381
umbilical cord4 / 13680292
uterus48 / 232878206
vascular4 / 5178077
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 207937_x_at
Cell line Expression level Expression bar
721_B_lymphoblasts4.95
Adipocyte5.35
AdrenalCortex4.05
Adrenalgland3.3
Amygdala4.35
Appendix5.25
AtrioventricularNode4.2
BDCA4+_DentriticCells4.3
Bonemarrow3.85
BronchialEpithelialCells3.9
CD105+_Endothelial3.8
CD14+_Monocytes4.2
CD19+_BCells(neg._sel.)4.05
CD33+_Myeloid5.05
CD34+5
CD4+_Tcells4
CD56+_NKCells4.75
CD71+_EarlyErythroid3.65
CD8+_Tcells3.6
CardiacMyocytes4.9
Caudatenucleus3.5
Cerebellum3.75
CerebellumPeduncles4.45
CiliaryGanglion2.8
CingulateCortex4
Colorectaladenocarcinoma4
DorsalRootGanglion3
FetalThyroid3.8
Fetalbrain3.9
Fetalliver3.4
Fetallung3.3
GlobusPallidus3.1
Heart5.55
Hypothalamus4.25
Kidney3.2
Leukemia_chronicMyelogenousK-5623.55
Leukemia_promyelocytic-HL-603.5
Leukemialymphoblastic(MOLT-4)3.2
Liver5.2
Lung4.35
Lymphnode3.4
Lymphoma_burkitts(Daudi)5.05
Lymphoma_burkitts(Raji)5.4
MedullaOblongata4.2
OccipitalLobe3.55
OlfactoryBulb3.1
Ovary4.55
Pancreas3.15
PancreaticIslet5.2
ParietalLobe4.15
Pituitary4.9
Placenta4.15
Pons3.75
PrefrontalCortex4.9
Prostate4.65
Salivarygland3.15
SkeletalMuscle4.75
Skin3.55
SmoothMuscle4.5
Spinalcord4.2
SubthalamicNucleus3.6
SuperiorCervicalGanglion4.35
TemporalLobe3.6
Testis3.45
TestisGermCell3.3
TestisIntersitial3.35
TestisLeydigCell3.9
TestisSeminiferousTubule3.4
Thalamus4
Thymus3.15
Thyroid4.85
Tongue3.95
Tonsil3.8
Trachea3.3
TrigeminalGanglion4.8
Uterus3.3
UterusCorpus3.55
WholeBlood4.3
Wholebrain3.35
colon3.95
pineal_day4.86
pineal_night4.66
retina4.75
small_intestine3.8
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P316447
  • 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
Amygdala1.96 ± 1.1
Basal Forebrain1.45 ± 0.21
Basal Part of Pons1.24 ± 0.41
Cerebellar Cortex2.11 ± 0.4
Cerebellar Nuclei1.75 ± 0.75
Claustrum2.4 ± 0.94
Epithalamus1.19 ± 0.65
Frontal Lobe1.28 ± 0.75
Globus Pallidus1.76 ± 0.69
Hypothalamus1.59 ± 0.73
Insula1.57 ± 0.91
Limbic Lobe1.47 ± 0.68
Mesencephalon1.59 ± 0.76
Myelencephalon1.52 ± 0.73
Occipital Lobe1.58 ± 0.56
Parietal Lobe1.55 ± 0.93
Pontine Tegmentum1.54 ± 0.68
Striatum1.28 ± 0.69
Subthalamus1.54 ± 0.58
Temporal Lobe1.32 ± 0.59
Thalamus1.48 ± 0.77
White Matter1.68 ± 0.18
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Fgfr1CBCerebellum57.05
39.24
Fgfr1CTXCerebral cortex11.85
8.45
Fgfr1HIPHippocampal region48.29
64.07
Fgfr1HPFHippocampal formation38.01
42.6
Fgfr1HYHypothalamus34.59
24.93
Fgfr1LSXLateral septal complex38.41
23.21
Fgfr1MBMidbrain31.36
25.63
Fgfr1MYMedulla44.3
49.54
Fgfr1OLFOlfactory bulb35.85
21.31
Fgfr1PPons52.3
62.97
Fgfr1PALPallidum26.41
21.55
Fgfr1RHPRetrohippocampal region22.84
16.63
Fgfr1sAMYStriatum-like amygdalar nuclei41.94
33.32
Fgfr1STRStriatum21.95
17.71
Fgfr1STRdStriatum dorsal region13.9
12.75
Fgfr1STRvStriatum ventral region32.19
23.25
Fgfr1THThalamus11.78
8.25
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00087694 12 178 189 CPSSGTPNPTLR 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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