AutismKB 2.0

Annotation Detail for KDELR3


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Basic Information Top
Gene Symbol:KDELR3 ( ERD2L3 )
Gene Full Name: KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 3
Band: 22q13.1
Quick LinksEntrez ID:11015; OMIM: NA; Uniprot ID:ERD23_HUMAN; ENSEMBL ID: ENSG00000100196; HGNC ID: 6306
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 body23 / 70761325
blastocyst22 / 62319353
fetus263 / 564012466
neonate4 / 31097128
infant5 / 23620211
juvenile16 / 55556287
adult700 / 1939121360
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor4 / 12794312
bladder carcinoma4 / 17475228
breast (mammary gland) tumor22 / 94178233
cervical tumor9 / 34366261
chondrosarcoma20 / 82823241
colorectal tumor34 / 114246297
esophageal tumor14 / 17290809
gastrointestinal tumor29 / 119369242
germ cell tumor57 / 263845216
glioma18 / 106883168
head and neck tumor52 / 136302381
kidney tumor26 / 68959377
leukemia52 / 95842542
liver tumor23 / 96359238
lung tumor26 / 103127252
lymphoma15 / 71755209
non-neoplasia31 / 97250318
normal1138 / 3360307338
ovarian tumor25 / 76682326
pancreatic tumor30 / 104616286
primitive neuroectodermal tumor of the CNS21 / 125680167
prostate cancer34 / 102680331
retinoblastoma5 / 46356107
skin tumor21 / 124949168
soft tissue/muscle tissue tumor14 / 125191111
uterine tumor62 / 90257686
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue9 / 13106686
adrenal gland11 / 33197331
ascites6 / 40015149
bladder10 / 29757336
blood51 / 123478413
bone17 / 71655237
bone marrow13 / 48801266
brain318 / 1100989288
cervix10 / 48171207
connective tissue29 / 149255194
ear17 / 162121048
embryonic tissue102 / 215722472
esophagus14 / 20209692
eye80 / 211054379
heart42 / 89626468
intestine81 / 234472345
kidney67 / 211777316
larynx11 / 24145455
liver49 / 207743235
lung104 / 336974308
lymph6 / 44270135
lymph node41 / 91610447
mammary gland38 / 153271247
mouth16 / 67052238
muscle9 / 10771583
nerve10 / 15768634
ovary27 / 102051264
pancreas59 / 214812274
parathyroid6 / 20539292
pharynx15 / 41328362
pituitary gland21 / 165851266
placenta87 / 280825309
prostate60 / 189345316
salivary gland4 / 20155198
skin68 / 210574322
spleen10 / 53952185
stomach50 / 96619517
testis60 / 330442181
thymus20 / 81131246
thyroid36 / 47473758
tonsil0 / 169990 
trachea5 / 5241395
umbilical cord0 / 136800 
uterus98 / 232878420
vascular20 / 51780386
Microarray in BioGPS Top
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  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 204017_at
Cell line Expression level Expression bar
721_B_lymphoblasts4.65
Adipocyte47.15
AdrenalCortex3.9
Adrenalgland3.2
Amygdala3.9
Appendix7.8
AtrioventricularNode3.5
BDCA4+_DentriticCells4.15
Bonemarrow3.75
BronchialEpithelialCells38.2
CD105+_Endothelial3.8
CD14+_Monocytes3.95
CD19+_BCells(neg._sel.)3.95
CD33+_Myeloid4.9
CD34+4.7
CD4+_Tcells4.05
CD56+_NKCells4.45
CD71+_EarlyErythroid3.45
CD8+_Tcells3.6
CardiacMyocytes112.9
Caudatenucleus3.35
Cerebellum3
CerebellumPeduncles4.2
CiliaryGanglion3.45
CingulateCortex3.8
Colorectaladenocarcinoma92.8
DorsalRootGanglion2.95
FetalThyroid7.85
Fetalbrain3.7
Fetalliver6.8
Fetallung4.55
GlobusPallidus2.75
Heart4.7
Hypothalamus4.05
Kidney3.05
Leukemia_chronicMyelogenousK-56224
Leukemia_promyelocytic-HL-603.3
Leukemialymphoblastic(MOLT-4)3
Liver4.95
Lung13.35
Lymphnode3.7
Lymphoma_burkitts(Daudi)4.75
Lymphoma_burkitts(Raji)5.2
MedullaOblongata3.65
OccipitalLobe3.35
OlfactoryBulb4.2
Ovary2.6
Pancreas3.05
PancreaticIslet4
ParietalLobe3.95
Pituitary12.35
Placenta5.95
Pons4.35
PrefrontalCortex4.65
Prostate30.35
Salivarygland4.85
SkeletalMuscle4.3
Skin2.9
SmoothMuscle432.55
Spinalcord4
SubthalamicNucleus3.4
SuperiorCervicalGanglion5.7
TemporalLobe3.45
Testis3.2
TestisGermCell3.25
TestisIntersitial3.2
TestisLeydigCell3.7
TestisSeminiferousTubule3.5
Thalamus3.8
Thymus2.9
Thyroid6.35
Tongue4.3
Tonsil3.7
Trachea33.1
TrigeminalGanglion9.1
Uterus8.35
UterusCorpus3.45
WholeBlood4.05
Wholebrain3.15
colon24.4
pineal_day4.64
pineal_night4.56
retina4.65
small_intestine54.15
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_878_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
Amygdala3.55 ± 0.84
Basal Forebrain3.19 ± 0.53
Basal Part of Pons3.22 ± 0.95
Cerebellar Cortex3.14 ± 0.66
Cerebellar Nuclei3 ± 0.47
Claustrum3.33 ± 0.6
Epithalamus3.45 ± 0.56
Frontal Lobe3.38 ± 0.61
Globus Pallidus3.2 ± 0.52
Hypothalamus3.11 ± 0.68
Insula3.27 ± 0.51
Limbic Lobe3.31 ± 0.62
Mesencephalon3.31 ± 0.66
Myelencephalon3.3 ± 0.64
Occipital Lobe3.12 ± 0.83
Parietal Lobe3.19 ± 0.63
Pontine Tegmentum3.15 ± 0.59
Striatum3.37 ± 0.65
Subthalamus3.3 ± 1.02
Temporal Lobe3.23 ± 0.66
Thalamus3.14 ± 0.71
White Matter2.59 ± 0.98
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Kdelr3CBCerebellum20.69
11.93
Kdelr3CTXCerebral cortex1.75
1.28
Kdelr3HIPHippocampal region1.96
1.14
Kdelr3HPFHippocampal formation1.93
1.13
Kdelr3HYHypothalamus0.6
0.38
Kdelr3LSXLateral septal complex0.23
0.21
Kdelr3MBMidbrain2.09
2.29
Kdelr3MYMedulla4.01
2.32
Kdelr3OLFOlfactory bulb3.8
3.02
Kdelr3PPons4.76
4.46
Kdelr3PALPallidum0.64
0.39
Kdelr3RHPRetrohippocampal region1.85
1.17
Kdelr3sAMYStriatum-like amygdalar nuclei1.88
1.08
Kdelr3STRStriatum0.46
0.26
Kdelr3STRdStriatum dorsal region0.3
0.17
Kdelr3STRvStriatum ventral region0.33
0.17
Kdelr3THThalamus2.28
1.23
Peptide Top

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