AutismKB 2.0

Annotation Detail for CPT1A


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Basic Information Top
Gene Symbol:CPT1A ( CPT1,CPT1-L,L-CPT1 )
Gene Full Name: carnitine palmitoyltransferase 1A (liver)
Band: 11q13.3
Quick LinksEntrez ID:1374; OMIM: 600528; Uniprot ID:CPT1A_HUMAN; ENSEMBL ID: ENSG00000110090; HGNC ID: 2328
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 body0 / 707610 
blastocyst0 / 623190 
fetus4 / 5640127
neonate0 / 310970 
infant0 / 236200 
juvenile5 / 5555689
adult84 / 193912143
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) tumor11 / 94178116
cervical tumor3 / 3436687
chondrosarcoma3 / 8282336
colorectal tumor8 / 11424670
esophageal tumor1 / 1729057
gastrointestinal tumor1 / 1193698
germ cell tumor10 / 26384537
glioma3 / 10688328
head and neck tumor5 / 13630236
kidney tumor5 / 6895972
leukemia19 / 95842198
liver tumor2 / 9635920
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia2 / 9725020
normal73 / 336030721
ovarian tumor3 / 7668239
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS4 / 12568031
prostate cancer5 / 10268048
retinoblastoma1 / 4635621
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor1 / 9025711
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder2 / 2975767
blood18 / 123478145
bone4 / 7165555
bone marrow1 / 4880120
brain20 / 110098918
cervix5 / 48171103
connective tissue3 / 14925520
ear0 / 162120 
embryonic tissue1 / 2157224
esophagus2 / 2020998
eye2 / 2110549
heart0 / 896260 
intestine27 / 234472115
kidney14 / 21177766
larynx0 / 241450 
liver3 / 20774314
lung3 / 3369748
lymph0 / 442700 
lymph node1 / 9161010
mammary gland13 / 15327184
mouth2 / 6705229
muscle4 / 10771537
nerve0 / 157680 
ovary3 / 10205129
pancreas2 / 2148129
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta6 / 28082521
prostate12 / 18934563
salivary gland0 / 201550 
skin2 / 2105749
spleen0 / 539520 
stomach1 / 9661910
testis11 / 33044233
thymus4 / 8113149
thyroid4 / 4747384
tonsil0 / 169990 
trachea6 / 52413114
umbilical cord0 / 136800 
uterus5 / 23287821
vascular4 / 5178077
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 210688_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts6.9
Adipocyte5.85
AdrenalCortex6.7
Adrenalgland5.15
Amygdala5.9
Appendix6.75
AtrioventricularNode5.25
BDCA4+_DentriticCells6.75
Bonemarrow6
BronchialEpithelialCells5.75
CD105+_Endothelial7.35
CD14+_Monocytes6.2
CD19+_BCells(neg._sel.)6.15
CD33+_Myeloid7.65
CD34+12.05
CD4+_Tcells5.95
CD56+_NKCells7.15
CD71+_EarlyErythroid6.1
CD8+_Tcells5.5
CardiacMyocytes7.6
Caudatenucleus5.25
Cerebellum4.85
CerebellumPeduncles6.95
CiliaryGanglion4.75
CingulateCortex6.15
Colorectaladenocarcinoma6
DorsalRootGanglion4.9
FetalThyroid5.75
Fetalbrain5.7
Fetalliver5.2
Fetallung4.6
GlobusPallidus4.5
Heart7.8
Hypothalamus6.3
Kidney5.05
Leukemia_chronicMyelogenousK-5625.25
Leukemia_promyelocytic-HL-605.2
Leukemialymphoblastic(MOLT-4)4.75
Liver8.5
Lung6.5
Lymphnode5
Lymphoma_burkitts(Daudi)7.65
Lymphoma_burkitts(Raji)8.65
MedullaOblongata5.35
OccipitalLobe5.2
OlfactoryBulb4.7
Ovary3.95
Pancreas4.9
PancreaticIslet6.35
ParietalLobe6.45
Pituitary6.9
Placenta6.05
Pons5.75
PrefrontalCortex7.05
Prostate6.8
Salivarygland4.9
SkeletalMuscle11.8
Skin8.45
SmoothMuscle6.6
Spinalcord6.3
SubthalamicNucleus5.5
SuperiorCervicalGanglion7.1
TemporalLobe5.5
Testis5.5
TestisGermCell5
TestisIntersitial5.15
TestisLeydigCell6.05
TestisSeminiferousTubule5.15
Thalamus6.1
Thymus4.55
Thyroid7.1
Tongue6.05
Tonsil5.75
Trachea4.9
TrigeminalGanglion7.15
Uterus4.8
UterusCorpus6.75
WholeBlood6.3
Wholebrain4.7
colon5.9
pineal_day7.32
pineal_night7.16
retina7.2
small_intestine5.65
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P347065
  • 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
Amygdala6.65 ± 0.38
Basal Forebrain7.09 ± 0.44
Basal Part of Pons6.68 ± 0.34
Cerebellar Cortex6.17 ± 0.4
Cerebellar Nuclei7.4 ± 0.34
Claustrum7.12 ± 0.58
Epithalamus6.39 ± 0.37
Frontal Lobe6.65 ± 0.6
Globus Pallidus7.93 ± 0.35
Hypothalamus6.61 ± 0.34
Insula6.25 ± 0.68
Limbic Lobe6.47 ± 0.73
Mesencephalon6.93 ± 0.77
Myelencephalon6.82 ± 0.49
Occipital Lobe6.99 ± 0.5
Parietal Lobe6.78 ± 0.48
Pontine Tegmentum6.75 ± 0.49
Striatum7.18 ± 0.57
Subthalamus6.82 ± 0.33
Temporal Lobe6.42 ± 0.57
Thalamus7.09 ± 0.46
White Matter6.45 ± 0.4
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Cpt1aCBCerebellum10.89
7.72
Cpt1aCTXCerebral cortex19.76
10.28
Cpt1aHIPHippocampal region37.93
20.77
Cpt1aHPFHippocampal formation36.05
19.58
Cpt1aHYHypothalamus22.2
11.39
Cpt1aLSXLateral septal complex9.89
4.75
Cpt1aMBMidbrain14.03
8.31
Cpt1aMYMedulla21.35
13.86
Cpt1aOLFOlfactory bulb32.24
15.86
Cpt1aPPons17.01
11.14
Cpt1aPALPallidum15.91
9.33
Cpt1aRHPRetrohippocampal region30.7
17.27
Cpt1asAMYStriatum-like amygdalar nuclei12.97
6.44
Cpt1aSTRStriatum8.39
3.99
Cpt1aSTRdStriatum dorsal region3.62
1.85
Cpt1aSTRvStriatum ventral region21.12
8.69
Cpt1aTHThalamus14.18
7.68
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
CPT1A_HUMAN_186 10 186 195 YLQSVRPLMK PRIDE
CPT1A_HUMAN_317 13 317 329 IPGEETDTIQHMR PRIDE
CPT1A_HUMAN_365 14 365 378 ILDNTSEPQPGEAR PRIDE
PAp00032480 12 618 629 AMVDPAQTVEQR 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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