AutismKB 2.0

Annotation Detail for ENPP1


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Basic Information Top
Gene Symbol:ENPP1 ( ARHR2,M6S1,NPP1,NPPS,PC-1,PCA1,PDNP1 )
Gene Full Name: ectonucleotide pyrophosphatase/phosphodiesterase 1
Band: 6q23.2
Quick LinksEntrez ID:5167; OMIM: 173335; Uniprot ID:ENPP1_HUMAN; ENSEMBL ID: ENSG00000197594; HGNC ID: 3356
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
blastocyst2 / 6231932
fetus35 / 56401262
neonate0 / 310970 
infant0 / 236200 
juvenile4 / 5555671
adult97 / 193912150
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 tumor0 / 343660 
chondrosarcoma6 / 8282372
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor6 / 11936950
germ cell tumor13 / 26384549
glioma1 / 1068839
head and neck tumor1 / 1363027
kidney tumor1 / 6895914
leukemia25 / 95842260
liver tumor3 / 9635931
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia6 / 9725061
normal111 / 336030733
ovarian tumor1 / 7668213
pancreatic tumor4 / 10461638
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor1 / 1249498
soft tissue/muscle tissue tumor3 / 12519123
uterine tumor0 / 902570 
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites3 / 4001574
bladder0 / 297570 
blood1 / 1234788
bone5 / 7165569
bone marrow24 / 48801491
brain10 / 11009899
cervix0 / 481710 
connective tissue6 / 14925540
ear3 / 16212185
embryonic tissue4 / 21572218
esophagus0 / 202090 
eye4 / 21105418
heart2 / 8962622
intestine0 / 2344720 
kidney9 / 21177742
larynx0 / 241450 
liver9 / 20774343
lung0 / 3369740 
lymph0 / 442700 
lymph node0 / 916100 
mammary gland4 / 15327126
mouth0 / 670520 
muscle4 / 10771537
nerve0 / 157680 
ovary1 / 1020519
pancreas5 / 21481223
parathyroid4 / 20539194
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta24 / 28082585
prostate0 / 1893450 
salivary gland0 / 201550 
skin4 / 21057418
spleen0 / 539520 
stomach3 / 9661931
testis7 / 33044221
thymus1 / 8113112
thyroid2 / 4747342
tonsil0 / 169990 
trachea2 / 5241338
umbilical cord0 / 136800 
uterus9 / 23287838
vascular0 / 517800 
Microarray in BioGPS Top
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  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 205065_at
Cell line Expression level Expression bar
721_B_lymphoblasts5.75
Adipocyte4.8
AdrenalCortex5.65
Adrenalgland4.3
Amygdala5.05
Appendix5.3
AtrioventricularNode4.25
BDCA4+_DentriticCells5.1
Bonemarrow5.2
BronchialEpithelialCells4.75
CD105+_Endothelial4.9
CD14+_Monocytes5.2
CD19+_BCells(neg._sel.)5.15
CD33+_Myeloid6.15
CD34+6.1
CD4+_Tcells5.1
CD56+_NKCells5.65
CD71+_EarlyErythroid4.65
CD8+_Tcells4.6
CardiacMyocytes6.9
Caudatenucleus4.45
Cerebellum4
CerebellumPeduncles5.75
CiliaryGanglion3.85
CingulateCortex5.15
Colorectaladenocarcinoma4.9
DorsalRootGanglion4.1
FetalThyroid4.8
Fetalbrain4.8
Fetalliver4.4
Fetallung3.9
GlobusPallidus3.8
Heart7.05
Hypothalamus5.2
Kidney4.25
Leukemia_chronicMyelogenousK-5624.45
Leukemia_promyelocytic-HL-604.35
Leukemialymphoblastic(MOLT-4)3.85
Liver7
Lung5.3
Lymphnode4.1
Lymphoma_burkitts(Daudi)6.4
Lymphoma_burkitts(Raji)7.3
MedullaOblongata4.45
OccipitalLobe4.4
OlfactoryBulb3.85
Ovary3.45
Pancreas4.1
PancreaticIslet5.3
ParietalLobe5.4
Pituitary5.7
Placenta4.9
Pons4.85
PrefrontalCortex6
Prostate5.7
Salivarygland4.1
SkeletalMuscle6.65
Skin4.2
SmoothMuscle5.55
Spinalcord5.25
SubthalamicNucleus4.65
SuperiorCervicalGanglion6.25
TemporalLobe4.6
Testis4.2
TestisGermCell3.95
TestisIntersitial4.2
TestisLeydigCell4.95
TestisSeminiferousTubule4.2
Thalamus5.1
Thymus3.75
Thyroid6.05
Tongue5.15
Tonsil4.8
Trachea4.05
TrigeminalGanglion5.4
Uterus3.95
UterusCorpus4.7
WholeBlood5.3
Wholebrain4
colon4.95
pineal_day6.08
pineal_night5.96
retina5.925
small_intestine4.7
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_32_P192376
  • 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
Amygdala2.37 ± 0.97
Basal Forebrain1.79 ± 0.36
Basal Part of Pons1.58 ± 0.41
Cerebellar Cortex2.13 ± 0.79
Cerebellar Nuclei2.15 ± 0.75
Claustrum2.58 ± 0.69
Epithalamus2 ± 0.5
Frontal Lobe1.92 ± 0.72
Globus Pallidus2.09 ± 0.58
Hypothalamus2.18 ± 0.64
Insula1.91 ± 0.51
Limbic Lobe1.87 ± 0.67
Mesencephalon2.23 ± 0.91
Myelencephalon1.93 ± 0.6
Occipital Lobe1.7 ± 0.54
Parietal Lobe1.97 ± 0.82
Pontine Tegmentum2.01 ± 0.61
Striatum1.67 ± 0.52
Subthalamus2.99 ± 0.43
Temporal Lobe1.83 ± 0.65
Thalamus1.99 ± 0.67
White Matter2.01 ± 0.31
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Enpp1CBCerebellum5.49
5.81
Enpp1CTXCerebral cortex2.28
1.9
Enpp1HIPHippocampal region4.17
4.1
Enpp1HPFHippocampal formation3.31
2.98
Enpp1HYHypothalamus0.6
0.7
Enpp1LSXLateral septal complex3.27
2.39
Enpp1MBMidbrain1.22
1.49
Enpp1MYMedulla1.84
1.86
Enpp1OLFOlfactory bulb6.36
5.69
Enpp1PPons1.13
1.28
Enpp1PALPallidum0.58
0.51
Enpp1RHPRetrohippocampal region1.59
1.22
Enpp1sAMYStriatum-like amygdalar nuclei0.75
0.69
Enpp1STRStriatum1.79
1.24
Enpp1STRdStriatum dorsal region1.61
1.14
Enpp1STRvStriatum ventral region2.46
1.48
Enpp1THThalamus0.72
0.7
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
ENPP1_HUMAN_34 29 34 62 SHAAEAPGDPQAAASLLAPMDVGEEPLEK PRIDE
PAp00406109 16 222 237 AEYLHTWGGLLPVISK 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