AutismKB 2.0

Annotation Detail for CD247


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Basic Information Top
Gene Symbol:CD247 ( CD3-ZETA,CD3H,CD3Q,CD3Z,T3Z,TCRZ )
Gene Full Name: CD247 molecule
Band: 1q24.2
Quick LinksEntrez ID:919; OMIM: 186780; Uniprot ID:CD3Z_HUMAN; ENSEMBL ID: ENSG00000198821; HGNC ID: 1677
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 
blastocyst0 / 623190 
fetus5 / 5640128
neonate0 / 310970 
infant0 / 236200 
juvenile3 / 5555653
adult23 / 193912111
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) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor0 / 2638450 
glioma0 / 1068830 
head and neck tumor3 / 13630222
kidney tumor0 / 689590 
leukemia4 / 9584241
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma1 / 7175513
non-neoplasia2 / 9725020
normal35 / 336030710
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS3 / 12568023
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor0 / 902570 
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood6 / 12347848
bone0 / 716550 
bone marrow0 / 488010 
brain2 / 11009891
cervix0 / 481710 
connective tissue2 / 14925513
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye0 / 2110540 
heart2 / 8962622
intestine1 / 2344724
kidney2 / 2117779
larynx1 / 2414541
liver4 / 20774319
lung0 / 3369740 
lymph0 / 442700 
lymph node2 / 9161021
mammary gland0 / 1532710 
mouth2 / 6705229
muscle1 / 1077159
nerve0 / 157680 
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta2 / 2808257
prostate1 / 1893455
salivary gland0 / 201550 
skin0 / 2105740 
spleen5 / 5395292
stomach0 / 966190 
testis0 / 3304420 
thymus37 / 81131456
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus0 / 2328780 
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 210031_at
Cell line Expression level Expression bar
721_B_lymphoblasts5.5
Adipocyte4.4
AdrenalCortex4.7
Adrenalgland3.7
Amygdala4.7
Appendix4.55
AtrioventricularNode3.55
BDCA4+_DentriticCells12
Bonemarrow10.25
BronchialEpithelialCells4.4
CD105+_Endothelial4.55
CD14+_Monocytes4.95
CD19+_BCells(neg._sel.)4.8
CD33+_Myeloid5.75
CD34+5.65
CD4+_Tcells1385.75
CD56+_NKCells4494.5
CD71+_EarlyErythroid4.15
CD8+_Tcells1069.25
CardiacMyocytes5.85
Caudatenucleus3.95
Cerebellum3.6
CerebellumPeduncles5.05
CiliaryGanglion3.25
CingulateCortex4.6
Colorectaladenocarcinoma4.45
DorsalRootGanglion3.5
FetalThyroid4.5
Fetalbrain4.4
Fetalliver3.9
Fetallung3.7
GlobusPallidus3.25
Heart6.05
Hypothalamus4.85
Kidney3.6
Leukemia_chronicMyelogenousK-5624
Leukemia_promyelocytic-HL-603.95
Leukemialymphoblastic(MOLT-4)32.15
Liver6
Lung16.85
Lymphnode14.75
Lymphoma_burkitts(Daudi)5.7
Lymphoma_burkitts(Raji)6.35
MedullaOblongata4
OccipitalLobe4
OlfactoryBulb3.55
Ovary2.95
Pancreas3.6
PancreaticIslet4.75
ParietalLobe4.65
Pituitary5.15
Placenta4.6
Pons4.35
PrefrontalCortex6.3
Prostate6.95
Salivarygland3.55
SkeletalMuscle5.25
Skin3.45
SmoothMuscle5.1
Spinalcord4.7
SubthalamicNucleus4
SuperiorCervicalGanglion5.6
TemporalLobe4.05
Testis3.8
TestisGermCell3.7
TestisIntersitial3.75
TestisLeydigCell4.4
TestisSeminiferousTubule3.85
Thalamus4.45
Thymus303.45
Thyroid5.7
Tongue5.45
Tonsil8.9
Trachea3.75
TrigeminalGanglion4.5
Uterus3.75
UterusCorpus4
WholeBlood75.05
Wholebrain3.7
colon4.5
pineal_day5.56
pineal_night5.42
retina5.45
small_intestine4.95
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_12222_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
Amygdala2.24 ± 1.05
Basal Forebrain1.83 ± 0.22
Basal Part of Pons1.65 ± 0.57
Cerebellar Cortex1.7 ± 0.77
Cerebellar Nuclei2.15 ± 0.63
Claustrum2.69 ± 0.86
Epithalamus1.69 ± 0.77
Frontal Lobe1.67 ± 0.55
Globus Pallidus2.45 ± 0.37
Hypothalamus1.89 ± 0.64
Insula2.32 ± 1.5
Limbic Lobe1.84 ± 0.62
Mesencephalon1.98 ± 0.68
Myelencephalon1.88 ± 0.66
Occipital Lobe1.86 ± 0.55
Parietal Lobe1.87 ± 0.72
Pontine Tegmentum1.91 ± 0.7
Striatum2.07 ± 0.63
Subthalamus1.98 ± 0.76
Temporal Lobe1.75 ± 0.65
Thalamus1.9 ± 0.61
White Matter2.3 ± 0.19
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Cd247CBCerebellum4.19
4.52
Cd247CTXCerebral cortex8.29
5.96
Cd247HIPHippocampal region7.94
7.29
Cd247HPFHippocampal formation9.51
8.29
Cd247HYHypothalamus9.52
7.99
Cd247LSXLateral septal complex2.56
2.22
Cd247MBMidbrain7.29
8.71
Cd247MYMedulla7.06
8.55
Cd247OLFOlfactory bulb21.73
19.49
Cd247PPons8.44
11.31
Cd247PALPallidum8.11
6.6
Cd247RHPRetrohippocampal region14.01
11.16
Cd247sAMYStriatum-like amygdalar nuclei5.33
3.69
Cd247STRStriatum5.99
4.81
Cd247STRdStriatum dorsal region4.1
3
Cd247STRvStriatum ventral region13.61
11.17
Cd247THThalamus11.99
8.83
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00486791 22 58 79 SADAPAYQQGQNQLYNELNLGR 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