AutismKB 2.0

Annotation Detail for CAD


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Basic Information Top
Gene Symbol:CAD ( - )
Gene Full Name: carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase
Band: 2p23.3
Quick LinksEntrez ID:790; OMIM: 114010; Uniprot ID:PYR1_HUMAN; ENSEMBL ID: ENSG00000084774; HGNC ID: 1424
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
blastocyst14 / 62319224
fetus14 / 56401224
neonate4 / 31097128
infant0 / 236200 
juvenile1 / 5555617
adult82 / 193912142
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor2 / 12794156
bladder carcinoma1 / 1747557
breast (mammary gland) tumor11 / 94178116
cervical tumor3 / 3436687
chondrosarcoma5 / 8282360
colorectal tumor12 / 114246105
esophageal tumor0 / 172900 
gastrointestinal tumor7 / 11936958
germ cell tumor19 / 26384572
glioma8 / 10688374
head and neck tumor12 / 13630288
kidney tumor2 / 6895929
leukemia20 / 95842208
liver tumor4 / 9635941
lung tumor9 / 10312787
lymphoma26 / 71755362
non-neoplasia1 / 9725010
normal112 / 336030733
ovarian tumor3 / 7668239
pancreatic tumor8 / 10461676
primitive neuroectodermal tumor of the CNS15 / 125680119
prostate cancer9 / 10268087
retinoblastoma25 / 46356539
skin tumor12 / 12494996
soft tissue/muscle tissue tumor10 / 12519179
uterine tumor6 / 9025766
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland2 / 3319760
ascites2 / 4001549
bladder0 / 297570 
blood6 / 12347848
bone9 / 71655125
bone marrow17 / 48801348
brain23 / 110098920
cervix3 / 4817162
connective tissue4 / 14925526
ear0 / 162120 
embryonic tissue27 / 215722125
esophagus0 / 202090 
eye35 / 211054165
heart4 / 8962644
intestine17 / 23447272
kidney4 / 21177718
larynx0 / 241450 
liver6 / 20774328
lung18 / 33697453
lymph26 / 44270587
lymph node31 / 91610338
mammary gland12 / 15327178
mouth8 / 67052119
muscle3 / 10771527
nerve1 / 1576863
ovary7 / 10205168
pancreas13 / 21481260
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta1 / 2808253
prostate9 / 18934547
salivary gland0 / 201550 
skin14 / 21057466
spleen0 / 539520 
stomach2 / 9661920
testis6 / 33044218
thymus1 / 8113112
thyroid4 / 4747384
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord4 / 13680292
uterus18 / 23287877
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 202715_at
Cell line Expression level Expression bar
721_B_lymphoblasts149.75
Adipocyte8.45
AdrenalCortex4.1
Adrenalgland3.6
Amygdala4.5
Appendix4.3
AtrioventricularNode3
BDCA4+_DentriticCells6.9
Bonemarrow4.4
BronchialEpithelialCells4.3
CD105+_Endothelial24.55
CD14+_Monocytes3.85
CD19+_BCells(neg._sel.)8.8
CD33+_Myeloid5.7
CD34+96.45
CD4+_Tcells23.25
CD56+_NKCells7.8
CD71+_EarlyErythroid4
CD8+_Tcells12.65
CardiacMyocytes6.35
Caudatenucleus3.85
Cerebellum3.45
CerebellumPeduncles4.9
CiliaryGanglion2.95
CingulateCortex4.4
Colorectaladenocarcinoma66.45
DorsalRootGanglion3.2
FetalThyroid4.9
Fetalbrain4.5
Fetalliver3.75
Fetallung3.6
GlobusPallidus3.15
Heart5.35
Hypothalamus4.4
Kidney3.5
Leukemia_chronicMyelogenousK-56233.05
Leukemia_promyelocytic-HL-6026.1
Leukemialymphoblastic(MOLT-4)24.05
Liver5.65
Lung4.95
Lymphnode4
Lymphoma_burkitts(Daudi)20.95
Lymphoma_burkitts(Raji)10.45
MedullaOblongata3.95
OccipitalLobe3.9
OlfactoryBulb3.4
Ovary2.9
Pancreas4.3
PancreaticIslet5
ParietalLobe4.5
Pituitary5
Placenta4.5
Pons4.1
PrefrontalCortex4.9
Prostate5.15
Salivarygland3.4
SkeletalMuscle4.9
Skin3.3
SmoothMuscle4.95
Spinalcord4.65
SubthalamicNucleus3.9
SuperiorCervicalGanglion4.8
TemporalLobe3.95
Testis4.05
TestisGermCell3.75
TestisIntersitial3.65
TestisLeydigCell4.25
TestisSeminiferousTubule3.7
Thalamus4.05
Thymus8.7
Thyroid5.5
Tongue3.9
Tonsil4.25
Trachea3.35
TrigeminalGanglion4.25
Uterus3.8
UterusCorpus3.8
WholeBlood4.7
Wholebrain3.6
colon3.75
pineal_day5.58
pineal_night5.72
retina5.2
small_intestine3.9
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_9008_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
Amygdala3.76 ± 0.56
Basal Forebrain3.82 ± 0.46
Basal Part of Pons4.03 ± 0.52
Cerebellar Cortex4.35 ± 0.51
Cerebellar Nuclei3.68 ± 0.49
Claustrum3.49 ± 0.94
Epithalamus4.24 ± 0.83
Frontal Lobe3.96 ± 0.64
Globus Pallidus3.88 ± 0.32
Hypothalamus3.49 ± 0.77
Insula3.94 ± 0.48
Limbic Lobe3.69 ± 0.64
Mesencephalon3.9 ± 0.57
Myelencephalon3.94 ± 0.58
Occipital Lobe3.56 ± 0.66
Parietal Lobe3.85 ± 0.55
Pontine Tegmentum3.71 ± 0.74
Striatum3.63 ± 0.57
Subthalamus3.49 ± 0.31
Temporal Lobe4 ± 0.53
Thalamus4.05 ± 0.52
White Matter3.96 ± 0.6
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
CadCBCerebellum2.47
3.32
CadCTXCerebral cortex1.35
1.75
CadHIPHippocampal region1.16
1.5
CadHPFHippocampal formation1.37
1.62
CadHYHypothalamus2.62
3.46
CadLSXLateral septal complex0.11
0.07
CadMBMidbrain0.65
0.81
CadMYMedulla1.66
2.03
CadOLFOlfactory bulb1.34
1.11
CadPPons3.8
5.29
CadPALPallidum0.14
0.15
CadRHPRetrohippocampal region1.7
1.77
CadsAMYStriatum-like amygdalar nuclei0.06
0.06
CadSTRStriatum0.35
0.44
CadSTRdStriatum dorsal region0.42
0.54
CadSTRvStriatum ventral region0.35
0.41
CadTHThalamus1.63
2.15
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00000148 37 556 592 AAFALGGLGSGFASNREELSALVAPAFAHTSQVLVDK Peptide Atlas
PYR1_HUMAN_1053 13 1053 1065 LLDTIGISQPQWR PRIDE
PYR1_HUMAN_1417 14 1417 1430 LAADFSVPLIIDIK PRIDE
PYR1_HUMAN_157 12 157 168 PLVPEVSIKTPR PRIDE
PYR1_HUMAN_1609 9 1609 1617 SVHICHVAR PRIDE
PYR1_HUMAN_1935 14 1935 1948 DQMSHLFNVAHTLR PRIDE
PYR1_HUMAN_2 12 2 13 AALVLEDGSVLR PRIDE
PYR1_HUMAN_2151 23 2151 2173 FGSTQEYEACFGQFILTPHIMTR PRIDE
PYR1_HUMAN_3 11 3 13 ALVLEDGSVLR PRIDE
PYR1_HUMAN_555 37 555 591 AAFALGGLGSGFASNREELSALVAPAFAHTSQVLVDK PRIDE
PYR1_HUMAN_761 10 761 770 SVGEVMGIGR PRIDE
PYR1_HUMAN_771 11 771 781 SFEEAFQKALR PRIDE
PYR1_HUMAN_875 14 875 888 QIALAVLSTELAVR PRIDE

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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