AutismKB 2.0

Annotation Detail for CXCR4


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Basic Information Top
Gene Symbol:CXCR4 ( CD184,D2S201E,FB22,HM89,HSY3RR,LAP3,LCR1,LESTR,NPY3R,NPYR,NPYRL,NPYY3R,WHIM )
Gene Full Name: chemokine (C-X-C motif) receptor 4
Band: 2q22.1
Quick LinksEntrez ID:7852; OMIM: 162643; Uniprot ID:CXCR4_HUMAN; ENSEMBL ID: ENSG00000121966; HGNC ID: 2561
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 body0 / 707610 
blastocyst2 / 6231932
fetus32 / 56401256
neonate9 / 31097289
infant1 / 2362042
juvenile35 / 55556629
adult99 / 193912151
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) tumor2 / 9417821
cervical tumor3 / 3436687
chondrosarcoma1 / 8282312
colorectal tumor4 / 11424635
esophageal tumor0 / 172900 
gastrointestinal tumor7 / 11936958
germ cell tumor9 / 26384534
glioma3 / 10688328
head and neck tumor9 / 13630266
kidney tumor2 / 6895929
leukemia26 / 95842271
liver tumor1 / 9635910
lung tumor2 / 10312719
lymphoma24 / 71755334
non-neoplasia6 / 9725061
normal195 / 336030758
ovarian tumor5 / 7668265
pancreatic tumor6 / 10461657
primitive neuroectodermal tumor of the CNS8 / 12568063
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor1 / 1251917
uterine tumor18 / 90257199
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland14 / 33197421
ascites0 / 400150 
bladder0 / 297570 
blood43 / 123478348
bone2 / 7165527
bone marrow5 / 48801102
brain37 / 110098933
cervix4 / 4817183
connective tissue8 / 14925553
ear1 / 1621261
embryonic tissue4 / 21572218
esophagus1 / 2020949
eye5 / 21105423
heart5 / 8962655
intestine13 / 23447255
kidney7 / 21177733
larynx2 / 2414582
liver3 / 20774314
lung14 / 33697441
lymph3 / 4427067
lymph node16 / 91610174
mammary gland5 / 15327132
mouth4 / 6705259
muscle1 / 1077159
nerve1 / 1576863
ovary5 / 10205148
pancreas10 / 21481246
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland3 / 16585180
placenta16 / 28082556
prostate3 / 18934515
salivary gland0 / 201550 
skin0 / 2105740 
spleen16 / 53952296
stomach11 / 96619113
testis3 / 3304429
thymus22 / 81131271
thyroid3 / 4747363
tonsil2 / 16999117
trachea1 / 5241319
umbilical cord2 / 13680146
uterus23 / 23287898
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 217028_at
Cell line Expression level Expression bar
721_B_lymphoblasts202.4
Adipocyte9
AdrenalCortex1168.1
Adrenalgland410.8
Amygdala13.65
Appendix87.35
AtrioventricularNode44.2
BDCA4+_DentriticCells2146
Bonemarrow2142.75
BronchialEpithelialCells9.05
CD105+_Endothelial198.35
CD14+_Monocytes1005.1
CD19+_BCells(neg._sel.)3491.1
CD33+_Myeloid877.1
CD34+930.9
CD4+_Tcells3174.3
CD56+_NKCells1829.3
CD71+_EarlyErythroid10.75
CD8+_Tcells3421.2
CardiacMyocytes22.6
Caudatenucleus13.15
Cerebellum7.95
CerebellumPeduncles10.6
CiliaryGanglion24.9
CingulateCortex9.45
Colorectaladenocarcinoma47.25
DorsalRootGanglion32.7
FetalThyroid9.75
Fetalbrain61.5
Fetalliver8.25
Fetallung125.9
GlobusPallidus7.35
Heart28.4
Hypothalamus31.45
Kidney9.9
Leukemia_chronicMyelogenousK-5628.45
Leukemia_promyelocytic-HL-60291.65
Leukemialymphoblastic(MOLT-4)1445.9
Liver13.25
Lung803.4
Lymphnode1511.3
Lymphoma_burkitts(Daudi)1387.9
Lymphoma_burkitts(Raji)419.75
MedullaOblongata11.1
OccipitalLobe8.7
OlfactoryBulb494.75
Ovary15.85
Pancreas32.85
PancreaticIslet98.1
ParietalLobe11.1
Pituitary42.85
Placenta83.5
Pons11.9
PrefrontalCortex11.4
Prostate43.35
Salivarygland677.35
SkeletalMuscle15.7
Skin28
SmoothMuscle10.75
Spinalcord124.6
SubthalamicNucleus8.5
SuperiorCervicalGanglion21.1
TemporalLobe9.1
Testis8.65
TestisGermCell7.75
TestisIntersitial8.8
TestisLeydigCell11
TestisSeminiferousTubule9.55
Thalamus9.8
Thymus1508.45
Thyroid89.85
Tongue11.95
Tonsil906.25
Trachea88.7
TrigeminalGanglion48
Uterus52.3
UterusCorpus27.6
WholeBlood2389.7
Wholebrain7.9
colon48.15
pineal_day39.62
pineal_night33.42
retina168.6
small_intestine240.1
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_16995_PI416261804
  • 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
Amygdala2.14 ± 0.99
Basal Forebrain2.36 ± 0.46
Basal Part of Pons2.02 ± 0.54
Cerebellar Cortex2.06 ± 0.67
Cerebellar Nuclei3.01 ± 0.73
Claustrum2.46 ± 0.84
Epithalamus3.36 ± 0.55
Frontal Lobe2.07 ± 0.8
Globus Pallidus3.98 ± 0.48
Hypothalamus2.56 ± 1.49
Insula2.51 ± 1.43
Limbic Lobe2.11 ± 0.79
Mesencephalon2.49 ± 0.88
Myelencephalon2.36 ± 0.76
Occipital Lobe2.47 ± 0.73
Parietal Lobe2.35 ± 0.79
Pontine Tegmentum2.36 ± 0.65
Striatum2.83 ± 0.76
Subthalamus1.84 ± 0.2
Temporal Lobe2.03 ± 0.74
Thalamus2.54 ± 0.65
White Matter4.24 ± 0.42
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00006616 19 334 352 RGGHSSVSTESESSSFHSS 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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