AutismKB 2.0

Annotation Detail for CPT2


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:CPT2 ( CPT1,CPTASE )
Gene Full Name: carnitine palmitoyltransferase 2
Band: 1p32.3
Quick LinksEntrez ID:1376; OMIM: 600650; Uniprot ID:CPT2_HUMAN; ENSEMBL ID: ENSG00000157184; HGNC ID: 2330
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 body1 / 7076114
blastocyst4 / 6231964
fetus10 / 56401217
neonate2 / 3109764
infant2 / 2362084
juvenile6 / 55556107
adult73 / 193912137
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) tumor5 / 9417853
cervical tumor1 / 3436629
chondrosarcoma2 / 8282324
colorectal tumor1 / 1142468
esophageal tumor0 / 172900 
gastrointestinal tumor4 / 11936933
germ cell tumor38 / 263845144
glioma6 / 10688356
head and neck tumor4 / 13630229
kidney tumor1 / 6895914
leukemia4 / 9584241
liver tumor5 / 9635951
lung tumor3 / 10312729
lymphoma5 / 7175569
non-neoplasia1 / 9725010
normal112 / 336030733
ovarian tumor4 / 7668252
pancreatic tumor4 / 10461638
primitive neuroectodermal tumor of the CNS6 / 12568047
prostate cancer4 / 10268038
retinoblastoma0 / 463560 
skin tumor3 / 12494924
soft tissue/muscle tissue tumor1 / 1251917
uterine tumor2 / 9025722
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites2 / 4001549
bladder2 / 2975767
blood6 / 12347848
bone2 / 7165527
bone marrow3 / 4880161
brain32 / 110098929
cervix1 / 4817120
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue7 / 21572232
esophagus0 / 202090 
eye5 / 21105423
heart5 / 8962655
intestine6 / 23447225
kidney15 / 21177770
larynx0 / 241450 
liver10 / 20774348
lung6 / 33697417
lymph0 / 442700 
lymph node0 / 916100 
mammary gland6 / 15327139
mouth1 / 6705214
muscle0 / 1077150 
nerve1 / 1576863
ovary7 / 10205168
pancreas5 / 21481223
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland2 / 16585120
placenta21 / 28082574
prostate10 / 18934552
salivary gland0 / 201550 
skin5 / 21057423
spleen6 / 53952111
stomach4 / 9661941
testis22 / 33044266
thymus1 / 8113112
thyroid1 / 4747321
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord0 / 136800 
uterus6 / 23287825
vascular2 / 5178038
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 204264_at
Cell line Expression level Expression bar
721_B_lymphoblasts11.6
Adipocyte8.75
AdrenalCortex10.1
Adrenalgland7.95
Amygdala8.3
Appendix9.9
AtrioventricularNode8.2
BDCA4+_DentriticCells11.1
Bonemarrow9.55
BronchialEpithelialCells8.7
CD105+_Endothelial11.1
CD14+_Monocytes21.25
CD19+_BCells(neg._sel.)9.6
CD33+_Myeloid15.5
CD34+11.35
CD4+_Tcells9
CD56+_NKCells10.95
CD71+_EarlyErythroid8.45
CD8+_Tcells8.4
CardiacMyocytes14.4
Caudatenucleus7.55
Cerebellum6.45
CerebellumPeduncles10.05
CiliaryGanglion7.45
CingulateCortex9
Colorectaladenocarcinoma8.95
DorsalRootGanglion7.1
FetalThyroid8.6
Fetalbrain8.35
Fetalliver7.6
Fetallung6.7
GlobusPallidus6.5
Heart14.65
Hypothalamus8.05
Kidney7.95
Leukemia_chronicMyelogenousK-5628.45
Leukemia_promyelocytic-HL-6011
Leukemialymphoblastic(MOLT-4)6.8
Liver50.35
Lung9.85
Lymphnode7.05
Lymphoma_burkitts(Daudi)11.45
Lymphoma_burkitts(Raji)13.5
MedullaOblongata7.4
OccipitalLobe6.85
OlfactoryBulb6.25
Ovary6
Pancreas7.1
PancreaticIslet12.55
ParietalLobe9.3
Pituitary10.05
Placenta9.25
Pons8.4
PrefrontalCortex10
Prostate10.55
Salivarygland7.1
SkeletalMuscle12.7
Skin7.7
SmoothMuscle9.45
Spinalcord9.25
SubthalamicNucleus8.05
SuperiorCervicalGanglion10.9
TemporalLobe7.85
Testis20.6
TestisGermCell7.1
TestisIntersitial7.35
TestisLeydigCell8.75
TestisSeminiferousTubule6.75
Thalamus8.9
Thymus7
Thyroid11.8
Tongue9.45
Tonsil8.55
Trachea7
TrigeminalGanglion9.95
Uterus7.3
UterusCorpus9.05
WholeBlood9.65
Wholebrain7.2
colon50.15
pineal_day13.9
pineal_night12.42
retina14.725
small_intestine65
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_13168_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
Amygdala2.14 ± 0.92
Basal Forebrain1.8 ± 0.3
Basal Part of Pons1.71 ± 0.64
Cerebellar Cortex1.99 ± 0.62
Cerebellar Nuclei2.04 ± 0.65
Claustrum2.36 ± 0.79
Epithalamus1.96 ± 0.57
Frontal Lobe1.92 ± 0.64
Globus Pallidus2.57 ± 0.45
Hypothalamus2.03 ± 0.92
Insula1.74 ± 0.68
Limbic Lobe1.64 ± 0.6
Mesencephalon2.05 ± 0.6
Myelencephalon1.92 ± 0.64
Occipital Lobe1.88 ± 0.67
Parietal Lobe1.82 ± 0.65
Pontine Tegmentum1.86 ± 0.67
Striatum1.89 ± 0.87
Subthalamus1.94 ± 0.64
Temporal Lobe1.78 ± 0.66
Thalamus2.07 ± 0.6
White Matter2.89 ± 0.69
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Cpt2CBCerebellum2.51
4.4
Cpt2CTXCerebral cortex1.83
1.47
Cpt2HIPHippocampal region1.08
1.34
Cpt2HPFHippocampal formation1.75
2.08
Cpt2HYHypothalamus0.12
0.08
Cpt2LSXLateral septal complex0.36
0.4
Cpt2MBMidbrain0.4
0.62
Cpt2MYMedulla1.12
1.44
Cpt2OLFOlfactory bulb2.75
2.68
Cpt2PPons0.45
0.66
Cpt2PALPallidum0.13
0.11
Cpt2RHPRetrohippocampal region2.66
2.83
Cpt2sAMYStriatum-like amygdalar nuclei0.2
0.39
Cpt2STRStriatum0.28
0.33
Cpt2STRdStriatum dorsal region0.28
0.33
Cpt2STRvStriatum ventral region0.3
0.3
Cpt2THThalamus0.64
0.78
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00003520 15 523 537 HSAGELQQMMVECSK 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