AutismKB 2.0

Annotation Detail for CPS1


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Basic Information Top
Gene Symbol:CPS1 ( CPSASE1 )
Gene Full Name: carbamoyl-phosphate synthase 1, mitochondrial
Band: 2q34
Quick LinksEntrez ID:1373; OMIM: 608307; Uniprot ID:CPSM_HUMAN; ENSEMBL ID: ENSG00000021826; HGNC ID: 2323
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 body3 / 7076142
blastocyst0 / 623190 
fetus92 / 564012163
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult115 / 193912159
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) tumor0 / 941780 
cervical tumor16 / 34366465
chondrosarcoma2 / 8282324
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor4 / 11936933
germ cell tumor0 / 2638450 
glioma0 / 1068830 
head and neck tumor0 / 1363020 
kidney tumor1 / 6895914
leukemia0 / 958420 
liver tumor41 / 96359425
lung tumor5 / 10312748
lymphoma0 / 717550 
non-neoplasia4 / 9725041
normal223 / 336030766
ovarian tumor0 / 766820 
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor2 / 12494916
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor3 / 9025733
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 
bone3 / 7165541
bone marrow0 / 488010 
brain15 / 110098913
cervix16 / 48171332
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue5 / 21572223
esophagus0 / 202090 
eye0 / 2110540 
heart2 / 8962622
intestine1 / 2344724
kidney6 / 21177728
larynx0 / 241450 
liver156 / 207743750
lung11 / 33697432
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth0 / 670520 
muscle7 / 10771564
nerve0 / 157680 
ovary0 / 1020510 
pancreas2 / 2148129
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta4 / 28082514
prostate0 / 1893450 
salivary gland0 / 201550 
skin2 / 2105749
spleen5 / 5395292
stomach5 / 9661951
testis17 / 33044251
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus4 / 23287817
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 217564_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts6.8
Adipocyte5.95
AdrenalCortex7.15
Adrenalgland5.35
Amygdala6.05
Appendix8.2
AtrioventricularNode7.9
BDCA4+_DentriticCells6.05
Bonemarrow7.2
BronchialEpithelialCells5.85
CD105+_Endothelial6
CD14+_Monocytes6.75
CD19+_BCells(neg._sel.)6.3
CD33+_Myeloid8.7
CD34+7.3
CD4+_Tcells6.3
CD56+_NKCells6.8
CD71+_EarlyErythroid6
CD8+_Tcells5.45
CardiacMyocytes9.2
Caudatenucleus5.45
Cerebellum4.95
CerebellumPeduncles7.6
CiliaryGanglion6.3
CingulateCortex6.35
Colorectaladenocarcinoma6.05
DorsalRootGanglion5.95
FetalThyroid6.4
Fetalbrain5.85
Fetalliver1091
Fetallung94.3
GlobusPallidus5.1
Heart9.15
Hypothalamus6.3
Kidney5.35
Leukemia_chronicMyelogenousK-5625.5
Leukemia_promyelocytic-HL-605.35
Leukemialymphoblastic(MOLT-4)4.65
Liver389.85
Lung6.55
Lymphnode4.95
Lymphoma_burkitts(Daudi)8.15
Lymphoma_burkitts(Raji)9.3
MedullaOblongata5.5
OccipitalLobe5.45
OlfactoryBulb4.8
Ovary4.65
Pancreas5.2
PancreaticIslet6.75
ParietalLobe6.85
Pituitary7
Placenta6.05
Pons6.35
PrefrontalCortex7.2
Prostate6.85
Salivarygland5.4
SkeletalMuscle8.6
Skin6.85
SmoothMuscle7.1
Spinalcord6.5
SubthalamicNucleus6.05
SuperiorCervicalGanglion12.95
TemporalLobe6
Testis5.15
TestisGermCell4.9
TestisIntersitial5.45
TestisLeydigCell6.7
TestisSeminiferousTubule5.25
Thalamus6.35
Thymus4.6
Thyroid7.3
Tongue6.8
Tonsil6.15
Trachea5
TrigeminalGanglion9.65
Uterus4.8
UterusCorpus6
WholeBlood6.5
Wholebrain4.8
colon6.1
pineal_day7.52
pineal_night7.38
retina7.8
small_intestine916.15
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P5300
  • 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
Amygdala2.04 ± 0.93
Basal Forebrain1.81 ± 0.17
Basal Part of Pons1.68 ± 1.03
Cerebellar Cortex1.45 ± 0.5
Cerebellar Nuclei2.16 ± 0.87
Claustrum2.51 ± 0.67
Epithalamus2.23 ± 1.68
Frontal Lobe1.56 ± 0.59
Globus Pallidus4.04 ± 0.7
Hypothalamus1.73 ± 0.65
Insula1.5 ± 0.39
Limbic Lobe1.62 ± 0.64
Mesencephalon2.05 ± 0.84
Myelencephalon1.77 ± 0.63
Occipital Lobe1.94 ± 0.82
Parietal Lobe1.87 ± 0.7
Pontine Tegmentum1.75 ± 0.65
Striatum1.99 ± 0.61
Subthalamus2.21 ± 0.99
Temporal Lobe1.58 ± 0.71
Thalamus1.72 ± 0.56
White Matter3.07 ± 0.5
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Cps1CBCerebellum8.81
11.04
Cps1CTXCerebral cortex13.05
9.25
Cps1HIPHippocampal region10.01
9.75
Cps1HPFHippocampal formation12.89
11.57
Cps1HYHypothalamus0.69
0.65
Cps1LSXLateral septal complex0.42
0.57
Cps1MBMidbrain5.6
5.27
Cps1MYMedulla2.94
3.64
Cps1OLFOlfactory bulb7.95
6.29
Cps1PPons3.59
3.91
Cps1PALPallidum0.33
0.28
Cps1RHPRetrohippocampal region17.13
13.69
Cps1sAMYStriatum-like amygdalar nuclei1.19
0.9
Cps1STRStriatum1.2
0.89
Cps1STRdStriatum dorsal region1.28
0.98
Cps1STRvStriatum ventral region0.75
0.5
Cps1THThalamus2.08
1.93
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00024444 10 920 929 CLGLTEAQTR 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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