AutismKB 2.0

Annotation Detail for KDELC1


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Basic Information Top
Gene Symbol:KDELC1 ( EP58,KDEL1,MGC5302 )
Gene Full Name: KDEL (Lys-Asp-Glu-Leu) containing 1
Band: 13q33.1
Quick LinksEntrez ID:79070; OMIM: 611613; Uniprot ID:KDEL1_HUMAN; ENSEMBL ID: ENSG00000134901; HGNC ID: 19350
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 body1 / 7076114
blastocyst1 / 6231916
fetus20 / 56401235
neonate3 / 3109796
infant2 / 2362084
juvenile3 / 5555653
adult30 / 193912115
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) tumor1 / 9417810
cervical tumor5 / 34366145
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor6 / 26384522
glioma3 / 10688328
head and neck tumor0 / 1363020 
kidney tumor1 / 6895914
leukemia1 / 9584210
liver tumor7 / 9635972
lung tumor2 / 10312719
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal64 / 336030719
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS12 / 12568095
prostate cancer0 / 1026800 
retinoblastoma4 / 4635686
skin tumor1 / 1249498
soft tissue/muscle tissue tumor4 / 12519131
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 
blood0 / 1234780 
bone2 / 7165527
bone marrow1 / 4880120
brain16 / 110098914
cervix10 / 48171207
connective tissue5 / 14925533
ear0 / 162120 
embryonic tissue6 / 21572227
esophagus0 / 202090 
eye4 / 21105418
heart1 / 8962611
intestine1 / 2344724
kidney5 / 21177723
larynx0 / 241450 
liver11 / 20774352
lung9 / 33697426
lymph0 / 442700 
lymph node1 / 9161010
mammary gland2 / 15327113
mouth0 / 670520 
muscle1 / 1077159
nerve0 / 157680 
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta4 / 28082514
prostate1 / 1893455
salivary gland0 / 201550 
skin1 / 2105744
spleen1 / 5395218
stomach0 / 966190 
testis5 / 33044215
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord3 / 13680219
uterus2 / 2328788
vascular10 / 51780193
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 219479_at
Cell line Expression level Expression bar
721_B_lymphoblasts8.05
Adipocyte6.85
AdrenalCortex8.25
Adrenalgland6.2
Amygdala6.65
Appendix7.8
AtrioventricularNode6.2
BDCA4+_DentriticCells6.5
Bonemarrow7.4
BronchialEpithelialCells6.75
CD105+_Endothelial8.3
CD14+_Monocytes8.1
CD19+_BCells(neg._sel.)7.5
CD33+_Myeloid9.95
CD34+11.5
CD4+_Tcells6.9
CD56+_NKCells7.45
CD71+_EarlyErythroid6.4
CD8+_Tcells5.95
CardiacMyocytes67.75
Caudatenucleus6.05
Cerebellum5.6
CerebellumPeduncles8.15
CiliaryGanglion6.05
CingulateCortex7.15
Colorectaladenocarcinoma6.75
DorsalRootGanglion5.8
FetalThyroid7.15
Fetalbrain6.4
Fetalliver6
Fetallung9.95
GlobusPallidus5.4
Heart10.9
Hypothalamus6.9
Kidney5.85
Leukemia_chronicMyelogenousK-5626.05
Leukemia_promyelocytic-HL-606
Leukemialymphoblastic(MOLT-4)5.5
Liver11.15
Lung7.35
Lymphnode5.55
Lymphoma_burkitts(Daudi)9
Lymphoma_burkitts(Raji)10.35
MedullaOblongata6.15
OccipitalLobe6.05
OlfactoryBulb5.25
Ovary4.8
Pancreas5.7
PancreaticIslet7.5
ParietalLobe7.55
Pituitary7.75
Placenta7
Pons7.15
PrefrontalCortex8.05
Prostate7.65
Salivarygland5.7
SkeletalMuscle9.7
Skin6.05
SmoothMuscle35.55
Spinalcord7.35
SubthalamicNucleus6.4
SuperiorCervicalGanglion9.55
TemporalLobe6.4
Testis5.7
TestisGermCell5.85
TestisIntersitial17.85
TestisLeydigCell6.95
TestisSeminiferousTubule5.85
Thalamus7.2
Thymus5
Thyroid8
Tongue7.55
Tonsil6.65
Trachea6
TrigeminalGanglion8
Uterus11.25
UterusCorpus6.8
WholeBlood7.3
Wholebrain5.4
colon6.85
pineal_day8.58
pineal_night8.38
retina8.225
small_intestine7.35
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_5024_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
Amygdala4.65 ± 0.54
Basal Forebrain4.94 ± 0.39
Basal Part of Pons4.81 ± 0.41
Cerebellar Cortex4.98 ± 0.23
Cerebellar Nuclei4.93 ± 0.37
Claustrum5.02 ± 0.44
Epithalamus4.62 ± 0.27
Frontal Lobe4.69 ± 0.38
Globus Pallidus5.31 ± 0.35
Hypothalamus4.75 ± 0.4
Insula4.58 ± 0.28
Limbic Lobe4.72 ± 0.45
Mesencephalon4.86 ± 0.38
Myelencephalon4.76 ± 0.45
Occipital Lobe5.14 ± 0.41
Parietal Lobe4.85 ± 0.35
Pontine Tegmentum4.85 ± 0.46
Striatum4.71 ± 0.5
Subthalamus4.88 ± 0.17
Temporal Lobe4.65 ± 0.43
Thalamus4.9 ± 0.38
White Matter6.28 ± 0.28
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Kdelc1CBCerebellum0.15
0.52
Kdelc1CTXCerebral cortex0.98
0.92
Kdelc1HIPHippocampal region2.71
2.5
Kdelc1HPFHippocampal formation2.07
1.85
Kdelc1HYHypothalamus0.29
0.38
Kdelc1LSXLateral septal complex0.25
0.58
Kdelc1MBMidbrain0.41
0.79
Kdelc1MYMedulla0.17
0.31
Kdelc1OLFOlfactory bulb2.52
2.92
Kdelc1PPons0.63
1.13
Kdelc1PALPallidum1.35
1.44
Kdelc1RHPRetrohippocampal region0.13
0.17
Kdelc1sAMYStriatum-like amygdalar nuclei6.36
4.93
Kdelc1STRStriatum1
0.9
Kdelc1STRdStriatum dorsal region0.22
0.33
Kdelc1STRvStriatum ventral region0.83
0.61
Kdelc1THThalamus0.81
0.87
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00011081 14 445 458 NNLMGDDIFCYYFK 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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