AutismKB 2.0

Annotation Detail for CPT1B


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Basic Information Top
Gene Symbol:CPT1B ( CPT1-M,CPT1M,CPTI,CPTI-M,FLJ55729,FLJ58750,KIAA1670,M-CPT1,MCCPT1,MCPT1 )
Gene Full Name: carnitine palmitoyltransferase 1B (muscle)
Band: 22q13.33
Quick LinksEntrez ID:1375; OMIM: 601987; Uniprot ID:CPT1B_HUMAN; ENSEMBL ID: ENSG00000205560; HGNC ID: 2329
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 
fetus23 / 56401240
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult94 / 193912148
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma1 / 1747557
breast (mammary gland) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor1 / 1142468
esophageal tumor0 / 172900 
gastrointestinal tumor1 / 1193698
germ cell tumor8 / 26384530
glioma1 / 1068839
head and neck tumor12 / 13630288
kidney tumor1 / 6895914
leukemia1 / 9584210
liver tumor0 / 963590 
lung tumor3 / 10312729
lymphoma2 / 7175527
non-neoplasia1 / 9725010
normal166 / 336030749
ovarian tumor0 / 766820 
pancreatic tumor6 / 10461657
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer1 / 1026809
retinoblastoma3 / 4635664
skin tumor1 / 1249498
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor5 / 9025755
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder1 / 2975733
blood1 / 1234788
bone2 / 7165527
bone marrow1 / 4880120
brain28 / 110098925
cervix0 / 481710 
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue5 / 21572223
esophagus0 / 202090 
eye5 / 21105423
heart23 / 89626256
intestine5 / 23447221
kidney4 / 21177718
larynx0 / 241450 
liver1 / 2077434
lung7 / 33697420
lymph0 / 442700 
lymph node3 / 9161032
mammary gland5 / 15327132
mouth12 / 67052178
muscle15 / 107715139
nerve1 / 1576863
ovary0 / 1020510 
pancreas6 / 21481227
parathyroid4 / 20539194
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta15 / 28082553
prostate3 / 18934515
salivary gland0 / 201550 
skin2 / 2105749
spleen0 / 539520 
stomach5 / 9661951
testis45 / 330442136
thymus1 / 8113112
thyroid3 / 4747363
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus9 / 23287838
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 210069_at
Cell line Expression level Expression bar
721_B_lymphoblasts69.4
Adipocyte5.3
AdrenalCortex5.75
Adrenalgland4.75
Amygdala5.4
Appendix5.35
AtrioventricularNode5.3
BDCA4+_DentriticCells26.55
Bonemarrow5.35
BronchialEpithelialCells5.05
CD105+_Endothelial5.3
CD14+_Monocytes8.15
CD19+_BCells(neg._sel.)68
CD33+_Myeloid18.4
CD34+51.35
CD4+_Tcells135.3
CD56+_NKCells40.7
CD71+_EarlyErythroid5
CD8+_Tcells142.5
CardiacMyocytes7.3
Caudatenucleus4.9
Cerebellum4.45
CerebellumPeduncles6.45
CiliaryGanglion4.1
CingulateCortex5.6
Colorectaladenocarcinoma5.5
DorsalRootGanglion4.25
FetalThyroid12.35
Fetalbrain6.5
Fetalliver4.65
Fetallung4.15
GlobusPallidus4.15
Heart516.3
Hypothalamus5.8
Kidney4.7
Leukemia_chronicMyelogenousK-5625.25
Leukemia_promyelocytic-HL-6024.7
Leukemialymphoblastic(MOLT-4)8.6
Liver8.8
Lung8.6
Lymphnode26.3
Lymphoma_burkitts(Daudi)65.8
Lymphoma_burkitts(Raji)47.95
MedullaOblongata4.65
OccipitalLobe4.65
OlfactoryBulb4.25
Ovary3.5
Pancreas4.35
PancreaticIslet6.75
ParietalLobe5.9
Pituitary6.2
Placenta5.4
Pons5.65
PrefrontalCortex6.35
Prostate6.05
Salivarygland5.65
SkeletalMuscle12.45
Skin4.35
SmoothMuscle6.05
Spinalcord6.1
SubthalamicNucleus4.8
SuperiorCervicalGanglion6.55
TemporalLobe4.9
Testis239.1
TestisGermCell125.8
TestisIntersitial182.55
TestisLeydigCell69.65
TestisSeminiferousTubule124.15
Thalamus5.6
Thymus12.8
Thyroid15.9
Tongue63
Tonsil6.35
Trachea4.45
TrigeminalGanglion6.05
Uterus4.25
UterusCorpus5.15
WholeBlood6.5
Wholebrain4.2
colon5.45
pineal_day39.48
pineal_night23.3
retina8.825
small_intestine5.2
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_12972_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
Amygdala2.97 ± 0.8
Basal Forebrain2.61 ± 0.51
Basal Part of Pons2.54 ± 0.4
Cerebellar Cortex3.07 ± 0.49
Cerebellar Nuclei2.51 ± 0.62
Claustrum3.4 ± 0.64
Epithalamus2.86 ± 0.37
Frontal Lobe2.38 ± 0.68
Globus Pallidus3.09 ± 0.74
Hypothalamus2.4 ± 0.54
Insula2.52 ± 0.57
Limbic Lobe2.52 ± 0.59
Mesencephalon2.77 ± 0.67
Myelencephalon2.7 ± 0.63
Occipital Lobe3.13 ± 0.64
Parietal Lobe2.72 ± 0.84
Pontine Tegmentum2.59 ± 0.73
Striatum3.08 ± 0.78
Subthalamus2.53 ± 0.75
Temporal Lobe2.5 ± 0.66
Thalamus2.79 ± 0.59
White Matter4.06 ± 0.6
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Cpt1bCBCerebellum14.23
15.72
Cpt1bCTXCerebral cortex18.41
13.84
Cpt1bHIPHippocampal region22.7
23.48
Cpt1bHPFHippocampal formation20.45
19.21
Cpt1bHYHypothalamus11.12
9.17
Cpt1bLSXLateral septal complex10.62
7.39
Cpt1bMBMidbrain7.87
7.73
Cpt1bMYMedulla6.07
6.87
Cpt1bOLFOlfactory bulb22.14
18.83
Cpt1bPPons9.72
10.87
Cpt1bPALPallidum9.77
8.87
Cpt1bRHPRetrohippocampal region16.98
13.29
Cpt1bsAMYStriatum-like amygdalar nuclei4.23
2.89
Cpt1bSTRStriatum6.99
5.24
Cpt1bSTRdStriatum dorsal region4.63
3.64
Cpt1bSTRvStriatum ventral region16.36
11.3
Cpt1bTHThalamus13.06
11.21
Peptide Top

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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