AutismKB 2.0

Annotation Detail for PCCB


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Basic Information Top
Gene Symbol:PCCB ( DKFZp451E113 )
Gene Full Name: propionyl CoA carboxylase, beta polypeptide
Band: 3q22.3
Quick LinksEntrez ID:5096; OMIM: 232050; Uniprot ID:PCCB_HUMAN; ENSEMBL ID: ENSG00000114054; HGNC ID: 8654
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 body5 / 7076170
blastocyst4 / 6231964
fetus26 / 56401246
neonate2 / 3109764
infant4 / 23620169
juvenile7 / 55556125
adult128 / 193912166
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma8 / 17475457
breast (mammary gland) tumor10 / 94178106
cervical tumor1 / 3436629
chondrosarcoma10 / 82823120
colorectal tumor3 / 11424626
esophageal tumor1 / 1729057
gastrointestinal tumor18 / 119369150
germ cell tumor21 / 26384579
glioma4 / 10688337
head and neck tumor3 / 13630222
kidney tumor4 / 6895958
leukemia5 / 9584252
liver tumor18 / 96359186
lung tumor5 / 10312748
lymphoma1 / 7175513
non-neoplasia5 / 9725051
normal203 / 336030760
ovarian tumor4 / 7668252
pancreatic tumor6 / 10461657
primitive neuroectodermal tumor of the CNS21 / 125680167
prostate cancer8 / 10268077
retinoblastoma4 / 4635686
skin tumor9 / 12494972
soft tissue/muscle tissue tumor9 / 12519171
uterine tumor7 / 9025777
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland9 / 33197271
ascites14 / 40015349
bladder8 / 29757268
blood8 / 12347864
bone8 / 71655111
bone marrow3 / 4880161
brain100 / 110098990
cervix1 / 4817120
connective tissue12 / 14925580
ear0 / 162120 
embryonic tissue16 / 21572274
esophagus2 / 2020998
eye11 / 21105452
heart12 / 89626133
intestine10 / 23447242
kidney9 / 21177742
larynx2 / 2414582
liver24 / 207743115
lung7 / 33697420
lymph0 / 442700 
lymph node5 / 9161054
mammary gland12 / 15327178
mouth0 / 670520 
muscle3 / 10771527
nerve1 / 1576863
ovary9 / 10205188
pancreas8 / 21481237
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland6 / 16585361
placenta18 / 28082564
prostate11 / 18934558
salivary gland0 / 201550 
skin13 / 21057461
spleen2 / 5395237
stomach4 / 9661941
testis31 / 33044293
thymus2 / 8113124
thyroid1 / 4747321
tonsil0 / 169990 
trachea3 / 5241357
umbilical cord1 / 1368073
uterus12 / 23287851
vascular0 / 517800 
Microarray in BioGPS Top
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  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 212694_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts242.95
Adipocyte37.8
AdrenalCortex23.1
Adrenalgland58.25
Amygdala21
Appendix15.15
AtrioventricularNode13.45
BDCA4+_DentriticCells92
Bonemarrow23.15
BronchialEpithelialCells68.4
CD105+_Endothelial408.15
CD14+_Monocytes41
CD19+_BCells(neg._sel.)28.95
CD33+_Myeloid47.45
CD34+223.05
CD4+_Tcells22.45
CD56+_NKCells70.8
CD71+_EarlyErythroid214.45
CD8+_Tcells21.5
CardiacMyocytes34.6
Caudatenucleus18.25
Cerebellum11.2
CerebellumPeduncles12.9
CiliaryGanglion11.1
CingulateCortex18.3
Colorectaladenocarcinoma22.65
DorsalRootGanglion11.6
FetalThyroid18.3
Fetalbrain12.2
Fetalliver64.75
Fetallung17.15
GlobusPallidus13.55
Heart74.9
Hypothalamus25.05
Kidney46.35
Leukemia_chronicMyelogenousK-562121.45
Leukemia_promyelocytic-HL-60132.95
Leukemialymphoblastic(MOLT-4)162.8
Liver50.85
Lung24.2
Lymphnode7.8
Lymphoma_burkitts(Daudi)73.6
Lymphoma_burkitts(Raji)115.25
MedullaOblongata15.3
OccipitalLobe22.45
OlfactoryBulb11.2
Ovary8.3
Pancreas14.75
PancreaticIslet32.6
ParietalLobe17.15
Pituitary27.35
Placenta32.85
Pons17.5
PrefrontalCortex21.3
Prostate26.2
Salivarygland16.65
SkeletalMuscle17.15
Skin13.35
SmoothMuscle31.5
Spinalcord22.95
SubthalamicNucleus13.5
SuperiorCervicalGanglion16.15
TemporalLobe16.5
Testis47.65
TestisGermCell50.25
TestisIntersitial88.55
TestisLeydigCell28.6
TestisSeminiferousTubule32.05
Thalamus21.3
Thymus21.35
Thyroid41.8
Tongue20.65
Tonsil18.3
Trachea13.9
TrigeminalGanglion16.1
Uterus14.85
UterusCorpus16.15
WholeBlood11.1
Wholebrain36.55
colon25.5
pineal_day113.1
pineal_night96.78
retina30
small_intestine34.35
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P121051
  • 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
Amygdala3.91 ± 0.68
Basal Forebrain3.87 ± 0.5
Basal Part of Pons3.89 ± 0.32
Cerebellar Cortex3.91 ± 0.58
Cerebellar Nuclei4.29 ± 0.66
Claustrum3.62 ± 0.7
Epithalamus3.98 ± 0.66
Frontal Lobe4.08 ± 0.54
Globus Pallidus4.12 ± 0.82
Hypothalamus3.91 ± 0.51
Insula4 ± 0.42
Limbic Lobe3.7 ± 0.52
Mesencephalon4.11 ± 0.66
Myelencephalon3.93 ± 0.57
Occipital Lobe3.72 ± 0.86
Parietal Lobe4.01 ± 0.56
Pontine Tegmentum4.04 ± 0.57
Striatum3.79 ± 0.62
Subthalamus3.73 ± 0.73
Temporal Lobe4 ± 0.49
Thalamus4.06 ± 0.6
White Matter5.77 ± 0.37
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
PccbCBCerebellum23.78
38.21
PccbCTXCerebral cortex30.5
23.77
PccbHIPHippocampal region32.52
43.28
PccbHPFHippocampal formation31.92
36.56
PccbHYHypothalamus3.68
3.39
PccbLSXLateral septal complex2.72
2.52
PccbMBMidbrain8.7
8.1
PccbMYMedulla13.81
15.62
PccbOLFOlfactory bulb27.83
23.08
PccbPPons7.62
8.36
PccbPALPallidum7.86
7.85
PccbRHPRetrohippocampal region31.1
27.62
PccbsAMYStriatum-like amygdalar nuclei13.04
10.14
PccbSTRStriatum10.18
7.76
PccbSTRdStriatum dorsal region11.09
8.63
PccbSTRvStriatum ventral region9.95
6.64
PccbTHThalamus24.88
22.82
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00000833 22 90 111 CADFGMAADKNKFPGDSVVTGR Peptide Atlas
PCCB_HUMAN_249 11 249 259 THTTMSGVAHR PRIDE
PCCB_HUMAN_7 7 7 13 VAAVGAR 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