AutismKB 2.0

Annotation Detail for EDC4


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Basic Information Top
Gene Symbol:EDC4 ( Ge-1,HEDLS,RCD-8 )
Gene Full Name: enhancer of mRNA decapping 4
Band: 16q22.1
Quick LinksEntrez ID:23644; OMIM: 606030; Uniprot ID:EDC4_HUMAN; ENSEMBL ID: ENSG00000038358; HGNC ID: 17157
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 body7 / 7076198
blastocyst4 / 6231964
fetus27 / 56401247
neonate1 / 3109732
infant2 / 2362084
juvenile3 / 5555653
adult97 / 193912150
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) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma5 / 8282360
colorectal tumor6 / 11424652
esophageal tumor0 / 172900 
gastrointestinal tumor10 / 11936983
germ cell tumor31 / 263845117
glioma9 / 10688384
head and neck tumor8 / 13630258
kidney tumor4 / 6895958
leukemia9 / 9584293
liver tumor1 / 9635910
lung tumor10 / 10312796
lymphoma6 / 7175583
non-neoplasia2 / 9725020
normal184 / 336030754
ovarian tumor0 / 766820 
pancreatic tumor8 / 10461676
primitive neuroectodermal tumor of the CNS7 / 12568055
prostate cancer3 / 10268029
retinoblastoma3 / 4635664
skin tumor13 / 124949104
soft tissue/muscle tissue tumor10 / 12519179
uterine tumor4 / 9025744
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland3 / 3319790
ascites3 / 4001574
bladder1 / 2975733
blood7 / 12347856
bone2 / 7165527
bone marrow2 / 4880140
brain68 / 110098961
cervix2 / 4817141
connective tissue2 / 14925513
ear0 / 162120 
embryonic tissue15 / 21572269
esophagus0 / 202090 
eye12 / 21105456
heart2 / 8962622
intestine13 / 23447255
kidney13 / 21177761
larynx3 / 24145124
liver2 / 2077439
lung18 / 33697453
lymph4 / 4427090
lymph node5 / 9161054
mammary gland0 / 1532710 
mouth3 / 6705244
muscle3 / 10771527
nerve2 / 15768126
ovary0 / 1020510 
pancreas8 / 21481237
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta23 / 28082581
prostate5 / 18934526
salivary gland1 / 2015549
skin19 / 21057490
spleen3 / 5395255
stomach6 / 9661962
testis27 / 33044281
thymus9 / 81131110
thyroid5 / 47473105
tonsil0 / 169990 
trachea5 / 5241395
umbilical cord1 / 1368073
uterus18 / 23287877
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 202496_at
Cell line Expression level Expression bar
721_B_lymphoblasts59.25
Adipocyte10.35
AdrenalCortex11.55
Adrenalgland9.15
Amygdala11.6
Appendix10.7
AtrioventricularNode7.9
BDCA4+_DentriticCells28.3
Bonemarrow10.5
BronchialEpithelialCells10.2
CD105+_Endothelial26.55
CD14+_Monocytes25
CD19+_BCells(neg._sel.)18.9
CD33+_Myeloid29.15
CD34+63.7
CD4+_Tcells46.15
CD56+_NKCells38.15
CD71+_EarlyErythroid10.05
CD8+_Tcells51.8
CardiacMyocytes13.4
Caudatenucleus9.7
Cerebellum8.8
CerebellumPeduncles12.8
CiliaryGanglion7.3
CingulateCortex11.1
Colorectaladenocarcinoma12
DorsalRootGanglion7.75
FetalThyroid10.55
Fetalbrain11.25
Fetalliver8.2
Fetallung9.15
GlobusPallidus7.75
Heart24
Hypothalamus15.35
Kidney8.6
Leukemia_chronicMyelogenousK-56213
Leukemia_promyelocytic-HL-6010.2
Leukemialymphoblastic(MOLT-4)32.25
Liver14.2
Lung19.85
Lymphnode11.8
Lymphoma_burkitts(Daudi)14.2
Lymphoma_burkitts(Raji)16.05
MedullaOblongata9.8
OccipitalLobe9.75
OlfactoryBulb8.25
Ovary6.9
Pancreas8.6
PancreaticIslet11.65
ParietalLobe10
Pituitary12.55
Placenta10.4
Pons9.65
PrefrontalCortex17.65
Prostate15.85
Salivarygland8.15
SkeletalMuscle11.85
Skin7.95
SmoothMuscle14.05
Spinalcord11.35
SubthalamicNucleus9.85
SuperiorCervicalGanglion11.7
TemporalLobe9.85
Testis17.25
TestisGermCell15.45
TestisIntersitial9.3
TestisLeydigCell10.6
TestisSeminiferousTubule10.65
Thalamus10.9
Thymus16.2
Thyroid13.85
Tongue10.15
Tonsil10.85
Trachea8.4
TrigeminalGanglion10.4
Uterus14.45
UterusCorpus9.5
WholeBlood12.15
Wholebrain10.45
colon11
pineal_day13.12
pineal_night13.04
retina13.15
small_intestine10.55
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_2183_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
Amygdala3.19 ± 0.86
Basal Forebrain2.26 ± 0.43
Basal Part of Pons2.54 ± 0.84
Cerebellar Cortex2.77 ± 0.68
Cerebellar Nuclei2.61 ± 0.58
Claustrum3.19 ± 0.73
Epithalamus2.28 ± 0.65
Frontal Lobe2.61 ± 0.65
Globus Pallidus2.82 ± 0.81
Hypothalamus2.5 ± 0.58
Insula2.29 ± 0.94
Limbic Lobe2.96 ± 0.64
Mesencephalon2.77 ± 0.73
Myelencephalon2.76 ± 0.66
Occipital Lobe3.16 ± 0.67
Parietal Lobe2.82 ± 0.76
Pontine Tegmentum2.86 ± 0.77
Striatum3.21 ± 0.67
Subthalamus2.59 ± 1.16
Temporal Lobe2.7 ± 0.68
Thalamus2.65 ± 0.68
White Matter2.55 ± 0.84
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
EDC4_HUMAN_1015 26 1015 1040 GGQLQEQLTQQLSQALSSAVAGRLER PRIDE
EDC4_HUMAN_1042 7 1042 1048 SIRDEIK PRIDE
EDC4_HUMAN_1058 16 1058 1073 SLEPMAGQLSNSVATK PRIDE
EDC4_HUMAN_1074 9 1074 1082 LTAVEGSMK PRIDE
EDC4_HUMAN_1093 8 1093 1100 NLTDAIAR PRIDE
EDC4_HUMAN_1175 22 1175 1196 GLVSTLQSATEQMAATVAGSVR PRIDE
EDC4_HUMAN_126 6 126 131 YDWEQK PRIDE
EDC4_HUMAN_132 19 132 150 YYYGNLIAVSNSFLAYAIR PRIDE
EDC4_HUMAN_161 9 161 169 VISVSTSER PRIDE
EDC4_HUMAN_223 11 223 233 QPEGTPLNHFR PRIDE
EDC4_HUMAN_274 14 274 287 SSHSTWPVDVSQIK PRIDE
EDC4_HUMAN_323 13 323 335 FWQIYIEGQDEPR PRIDE
EDC4_HUMAN_369 10 369 378 FLITGADQNR PRIDE
EDC4_HUMAN_508 7 508 514 LFCVHTK PRIDE
EDC4_HUMAN_515 8 515 522 ALQDVQIR PRIDE
EDC4_HUMAN_729 26 729 754 SPDVISSASTALSQDIPEIASEALSR PRIDE
PAp00002867 28 295 322 GHSTCLSEGALSPDGTVLATASHDGYVK 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