AutismKB 2.0

Annotation Detail for ENG


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Basic Information Top
Gene Symbol:ENG ( CD105,END,FLJ41744,HHT1,ORW,ORW1 )
Gene Full Name: endoglin
Band: 9q34.11
Quick LinksEntrez ID:2022; OMIM: 131195; Uniprot ID:EGLN_HUMAN; ENSEMBL ID: ENSG00000106991; HGNC ID: 3349
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 body2 / 7076128
blastocyst0 / 623190 
fetus90 / 564012159
neonate44 / 310971414
infant0 / 236200 
juvenile14 / 55556251
adult385 / 1939121198
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) tumor18 / 94178191
cervical tumor4 / 34366116
chondrosarcoma29 / 82823350
colorectal tumor3 / 11424626
esophageal tumor2 / 17290115
gastrointestinal tumor3 / 11936925
germ cell tumor13 / 26384549
glioma13 / 106883121
head and neck tumor57 / 136302418
kidney tumor7 / 68959101
leukemia25 / 95842260
liver tumor2 / 9635920
lung tumor8 / 10312777
lymphoma1 / 7175513
non-neoplasia114 / 972501172
normal1335 / 3360307397
ovarian tumor11 / 76682143
pancreatic tumor14 / 104616133
primitive neuroectodermal tumor of the CNS13 / 125680103
prostate cancer4 / 10268038
retinoblastoma0 / 463560 
skin tumor12 / 12494996
soft tissue/muscle tissue tumor7 / 12519155
uterine tumor7 / 9025777
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue3 / 13106228
adrenal gland13 / 33197391
ascites0 / 400150 
bladder0 / 297570 
blood15 / 123478121
bone13 / 71655181
bone marrow6 / 48801122
brain190 / 1100989172
cervix7 / 48171145
connective tissue136 / 149255911
ear0 / 162120 
embryonic tissue4 / 21572218
esophagus4 / 20209197
eye31 / 211054146
heart51 / 89626569
intestine54 / 234472230
kidney133 / 211777628
larynx4 / 24145165
liver18 / 20774386
lung166 / 336974492
lymph0 / 442700 
lymph node6 / 9161065
mammary gland34 / 153271221
mouth46 / 67052686
muscle10 / 10771592
nerve5 / 15768317
ovary15 / 102051146
pancreas37 / 214812172
parathyroid4 / 20539194
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta161 / 280825573
prostate37 / 189345195
salivary gland5 / 20155248
skin88 / 210574417
spleen155 / 539522872
stomach9 / 9661993
testis185 / 330442559
thymus92 / 811311133
thyroid21 / 47473442
tonsil0 / 169990 
trachea9 / 52413171
umbilical cord7 / 13680511
uterus59 / 232878253
vascular163 / 517803147
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 201808_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts5.65
Adipocyte4.85
AdrenalCortex5.05
Adrenalgland4.15
Amygdala5.25
Appendix5.05
AtrioventricularNode3.8
BDCA4+_DentriticCells5.15
Bonemarrow4.85
BronchialEpithelialCells4.9
CD105+_Endothelial5
CD14+_Monocytes5.25
CD19+_BCells(neg._sel.)5.3
CD33+_Myeloid5.9
CD34+6.25
CD4+_Tcells5
CD56+_NKCells5.45
CD71+_EarlyErythroid4.55
CD8+_Tcells4.5
CardiacMyocytes20
Caudatenucleus4.4
Cerebellum4
CerebellumPeduncles5.55
CiliaryGanglion3.55
CingulateCortex5
Colorectaladenocarcinoma4.95
DorsalRootGanglion3.75
FetalThyroid5.05
Fetalbrain4.9
Fetalliver4.25
Fetallung4.15
GlobusPallidus3.55
Heart6.5
Hypothalamus5.3
Kidney4
Leukemia_chronicMyelogenousK-5624.45
Leukemia_promyelocytic-HL-604.3
Leukemialymphoblastic(MOLT-4)3.95
Liver6.4
Lung17.75
Lymphnode4.3
Lymphoma_burkitts(Daudi)6.25
Lymphoma_burkitts(Raji)6.8
MedullaOblongata4.55
OccipitalLobe4.4
OlfactoryBulb3.9
Ovary5.7
Pancreas3.95
PancreaticIslet5.25
ParietalLobe5.1
Pituitary5.75
Placenta8.55
Pons4.7
PrefrontalCortex6.25
Prostate5.8
Salivarygland3.95
SkeletalMuscle5.65
Skin3.9
SmoothMuscle7.7
Spinalcord5.25
SubthalamicNucleus4.45
SuperiorCervicalGanglion5.75
TemporalLobe4.5
Testis4.25
TestisGermCell4.1
TestisIntersitial4.75
TestisLeydigCell4.9
TestisSeminiferousTubule4.25
Thalamus4.95
Thymus3.95
Thyroid7.4
Tongue4.8
Tonsil5.1
Trachea4.15
TrigeminalGanglion5.25
Uterus4.1
UterusCorpus4.35
WholeBlood5.45
Wholebrain4.15
colon4.95
pineal_day5.94
pineal_night5.9
retina5.975
small_intestine4.8
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P83328
  • 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
Amygdala3.57 ± 0.43
Basal Forebrain3.29 ± 0.43
Basal Part of Pons3.79 ± 0.48
Cerebellar Cortex3.55 ± 0.63
Cerebellar Nuclei4.19 ± 0.48
Claustrum3.43 ± 0.64
Epithalamus3.3 ± 0.91
Frontal Lobe3.83 ± 0.63
Globus Pallidus4.17 ± 0.35
Hypothalamus3.1 ± 0.43
Insula3.74 ± 0.61
Limbic Lobe3.64 ± 0.64
Mesencephalon3.84 ± 0.63
Myelencephalon3.85 ± 0.64
Occipital Lobe3.93 ± 0.74
Parietal Lobe3.42 ± 0.67
Pontine Tegmentum3.71 ± 0.77
Striatum4.45 ± 0.58
Subthalamus3.91 ± 0.62
Temporal Lobe3.69 ± 0.55
Thalamus4.1 ± 0.73
White Matter3.79 ± 0.96
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
EngCBCerebellum3.46
5.54
EngCTXCerebral cortex7.63
6.59
EngHIPHippocampal region7.12
8.82
EngHPFHippocampal formation6.62
7.6
EngHYHypothalamus6.88
6.53
EngLSXLateral septal complex4.66
4.43
EngMBMidbrain5.74
8.24
EngMYMedulla4.56
8.83
EngOLFOlfactory bulb7.79
8.21
EngPPons6.88
11.96
EngPALPallidum3.03
3.45
EngRHPRetrohippocampal region5.35
5.25
EngsAMYStriatum-like amygdalar nuclei4.76
5.13
EngSTRStriatum6.46
5.75
EngSTRdStriatum dorsal region7.26
6.5
EngSTRvStriatum ventral region5.8
4.52
EngTHThalamus6
7.21
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
EGLN_HUMAN_26 14 26 39 ETVHCDLQPVGPER PRIDE
PAp00010172 11 206 216 GCHLEGVAGHK 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