AutismKB 2.0

Annotation Detail for DCTPP1


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Basic Information Top
Gene Symbol:DCTPP1 ( MGC5627,RS21C6,XTP3TPA )
Gene Full Name: dCTP pyrophosphatase 1
Band: 16p11.2
Quick LinksEntrez ID:79077; OMIM: NA; Uniprot ID:DCTP1_HUMAN; ENSEMBL ID: ENSG00000179958; HGNC ID: 28777
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 body9 / 70761127
blastocyst4 / 6231964
fetus18 / 56401231
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult100 / 193912151
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma1 / 1747557
breast (mammary gland) tumor7 / 9417874
cervical tumor3 / 3436687
chondrosarcoma3 / 8282336
colorectal tumor7 / 11424661
esophageal tumor1 / 1729057
gastrointestinal tumor11 / 11936992
germ cell tumor12 / 26384545
glioma14 / 106883130
head and neck tumor4 / 13630229
kidney tumor2 / 6895929
leukemia8 / 9584283
liver tumor5 / 9635951
lung tumor10 / 10312796
lymphoma3 / 7175541
non-neoplasia2 / 9725020
normal102 / 336030730
ovarian tumor6 / 7668278
pancreatic tumor14 / 104616133
primitive neuroectodermal tumor of the CNS10 / 12568079
prostate cancer27 / 102680262
retinoblastoma13 / 46356280
skin tumor4 / 12494932
soft tissue/muscle tissue tumor12 / 12519195
uterine tumor3 / 9025733
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue3 / 13106228
adrenal gland1 / 3319730
ascites9 / 40015224
bladder1 / 2975733
blood9 / 12347872
bone3 / 7165541
bone marrow1 / 4880120
brain33 / 110098929
cervix9 / 48171186
connective tissue8 / 14925553
ear0 / 162120 
embryonic tissue18 / 21572283
esophagus1 / 2020949
eye20 / 21105494
heart2 / 8962622
intestine13 / 23447255
kidney6 / 21177728
larynx0 / 241450 
liver7 / 20774333
lung25 / 33697474
lymph1 / 4427022
lymph node7 / 9161076
mammary gland9 / 15327158
mouth2 / 6705229
muscle5 / 10771546
nerve1 / 1576863
ovary5 / 10205148
pancreas15 / 21481269
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta11 / 28082539
prostate29 / 189345153
salivary gland1 / 2015549
skin5 / 21057423
spleen1 / 5395218
stomach2 / 9661920
testis5 / 33044215
thymus0 / 811310 
thyroid1 / 4747321
tonsil3 / 16999176
trachea0 / 524130 
umbilical cord0 / 136800 
uterus9 / 23287838
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 218069_at
Cell line Expression level Expression bar
721_B_lymphoblasts267.25
Adipocyte17.7
AdrenalCortex21.2
Adrenalgland19.25
Amygdala17.55
Appendix14.85
AtrioventricularNode15.55
BDCA4+_DentriticCells53.55
Bonemarrow28.4
BronchialEpithelialCells86.4
CD105+_Endothelial91.75
CD14+_Monocytes13.95
CD19+_BCells(neg._sel.)61.2
CD33+_Myeloid32.25
CD34+205.1
CD4+_Tcells20.55
CD56+_NKCells40
CD71+_EarlyErythroid18.75
CD8+_Tcells18.85
CardiacMyocytes13.7
Caudatenucleus18.25
Cerebellum31.1
CerebellumPeduncles27.95
CiliaryGanglion15.25
CingulateCortex20.95
Colorectaladenocarcinoma20.5
DorsalRootGanglion14.9
FetalThyroid19.2
Fetalbrain22.9
Fetalliver17.9
Fetallung15.45
GlobusPallidus14.4
Heart67.5
Hypothalamus23.2
Kidney30.45
Leukemia_chronicMyelogenousK-56257.2
Leukemia_promyelocytic-HL-6058.45
Leukemialymphoblastic(MOLT-4)70.45
Liver29.1
Lung27.55
Lymphnode16.45
Lymphoma_burkitts(Daudi)111.5
Lymphoma_burkitts(Raji)15.45
MedullaOblongata18.1
OccipitalLobe20.25
OlfactoryBulb15.7
Ovary7.5
Pancreas15.75
PancreaticIslet16.1
ParietalLobe21.05
Pituitary23.3
Placenta19.75
Pons17.15
PrefrontalCortex25.75
Prostate23.75
Salivarygland16.7
SkeletalMuscle24.05
Skin14.9
SmoothMuscle15.5
Spinalcord21.8
SubthalamicNucleus17.75
SuperiorCervicalGanglion21.85
TemporalLobe18.45
Testis20.9
TestisGermCell14.5
TestisIntersitial14.6
TestisLeydigCell14.85
TestisSeminiferousTubule16.6
Thalamus22.6
Thymus18.35
Thyroid25.3
Tongue14.1
Tonsil22.6
Trachea20.95
TrigeminalGanglion12.75
Uterus16.15
UterusCorpus7.5
WholeBlood12.1
Wholebrain28.45
colon168.15
pineal_day36.54
pineal_night22.76
retina28.175
small_intestine51.75
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P33613
  • 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
Amygdala7.33 ± 0.53
Basal Forebrain7.7 ± 0.33
Basal Part of Pons8.38 ± 0.55
Cerebellar Cortex8.28 ± 0.34
Cerebellar Nuclei8.2 ± 0.48
Claustrum7.63 ± 0.93
Epithalamus8.02 ± 0.49
Frontal Lobe8.14 ± 0.48
Globus Pallidus7.06 ± 0.32
Hypothalamus8.55 ± 0.31
Insula8.24 ± 0.36
Limbic Lobe7.48 ± 0.79
Mesencephalon7.73 ± 0.6
Myelencephalon7.78 ± 0.74
Occipital Lobe6.89 ± 0.75
Parietal Lobe7.76 ± 0.58
Pontine Tegmentum7.75 ± 0.55
Striatum6.84 ± 0.51
Subthalamus8.58 ± 0.18
Temporal Lobe8.18 ± 0.54
Thalamus7.72 ± 0.55
White Matter7.29 ± 0.32
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
2410015N17RikCBCerebellum1.16
2.07
2410015N17RikCTXCerebral cortex9.91
7.77
2410015N17RikHIPHippocampal region5.44
5.4
2410015N17RikHPFHippocampal formation5.63
5.04
2410015N17RikHYHypothalamus0.18
0.41
2410015N17RikLSXLateral septal complex0.08
0.07
2410015N17RikMBMidbrain1.06
2.32
2410015N17RikMYMedulla1.01
2.99
2410015N17RikOLFOlfactory bulb6.66
6.07
2410015N17RikPPons1.21
3.05
2410015N17RikPALPallidum0.65
0.67
2410015N17RikRHPRetrohippocampal region5.97
4.54
2410015N17RiksAMYStriatum-like amygdalar nuclei3.61
2.65
2410015N17RikSTRStriatum1.74
1.33
2410015N17RikSTRdStriatum dorsal region1.72
1.32
2410015N17RikSTRvStriatum ventral region1.09
0.83
2410015N17RikTHThalamus0.93
1.22
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
DCTP1_HUMAN_74 13 74 86 TDGEPGPQGWSPR PRIDE
DCTP1_HUMAN_87 24 87 110 ERAALQEELSDVLIYLVALAARCR PRIDE
PAp00004661 31 140 170 KYTELPHGAISEDQAVGPADIPCDSTGQTST 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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