AutismKB 2.0

Annotation Detail for PCBD1


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Basic Information Top
Gene Symbol:PCBD1 ( DCOH,PCBD,PCD,PHS )
Gene Full Name: pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha
Band: 10q22.1
Quick LinksEntrez ID:5092; OMIM: 126090; Uniprot ID:PHS_HUMAN; ENSEMBL ID: ENSG00000166228; HGNC ID: 8646
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
blastocyst0 / 623190 
fetus10 / 56401217
neonate4 / 31097128
infant0 / 236200 
juvenile0 / 555560 
adult67 / 193912134
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) tumor2 / 9417821
cervical tumor0 / 343660 
chondrosarcoma3 / 8282336
colorectal tumor5 / 11424643
esophageal tumor1 / 1729057
gastrointestinal tumor10 / 11936983
germ cell tumor3 / 26384511
glioma3 / 10688328
head and neck tumor0 / 1363020 
kidney tumor1 / 6895914
leukemia2 / 9584220
liver tumor1 / 9635910
lung tumor1 / 1031279
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal89 / 336030726
ovarian tumor11 / 76682143
pancreatic tumor41 / 104616391
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer9 / 10268087
retinoblastoma3 / 4635664
skin tumor4 / 12494932
soft tissue/muscle tissue tumor2 / 12519115
uterine tumor4 / 9025744
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites4 / 4001599
bladder2 / 2975767
blood0 / 1234780 
bone8 / 71655111
bone marrow2 / 4880140
brain14 / 110098912
cervix0 / 481710 
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue2 / 2157229
esophagus1 / 2020949
eye9 / 21105442
heart2 / 8962622
intestine12 / 23447251
kidney7 / 21177733
larynx0 / 241450 
liver2 / 2077439
lung17 / 33697450
lymph0 / 442700 
lymph node5 / 9161054
mammary gland3 / 15327119
mouth0 / 670520 
muscle2 / 10771518
nerve1 / 1576863
ovary12 / 102051117
pancreas56 / 214812260
parathyroid2 / 2053997
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta4 / 28082514
prostate12 / 18934563
salivary gland0 / 201550 
skin8 / 21057437
spleen0 / 539520 
stomach4 / 9661941
testis3 / 3304429
thymus0 / 811310 
thyroid2 / 4747342
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord4 / 13680292
uterus7 / 23287830
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 203557_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts118.2
Adipocyte26.95
AdrenalCortex26
Adrenalgland23.9
Amygdala13.75
Appendix11.7
AtrioventricularNode10.75
BDCA4+_DentriticCells14.3
Bonemarrow12.7
BronchialEpithelialCells12.9
CD105+_Endothelial11.05
CD14+_Monocytes13.45
CD19+_BCells(neg._sel.)11.15
CD33+_Myeloid16.7
CD34+16.65
CD4+_Tcells9.55
CD56+_NKCells9.65
CD71+_EarlyErythroid9.15
CD8+_Tcells7.3
CardiacMyocytes15.15
Caudatenucleus11.3
Cerebellum10.5
CerebellumPeduncles17.1
CiliaryGanglion9.25
CingulateCortex13.05
Colorectaladenocarcinoma104.7
DorsalRootGanglion9.75
FetalThyroid12.6
Fetalbrain11.3
Fetalliver40.5
Fetallung32.55
GlobusPallidus9.8
Heart106.95
Hypothalamus14.15
Kidney50.8
Leukemia_chronicMyelogenousK-56218.1
Leukemia_promyelocytic-HL-608.1
Leukemialymphoblastic(MOLT-4)7.7
Liver259.55
Lung36.4
Lymphnode10.4
Lymphoma_burkitts(Daudi)15.45
Lymphoma_burkitts(Raji)14.8
MedullaOblongata9.9
OccipitalLobe9.45
OlfactoryBulb13.25
Ovary11.65
Pancreas11.4
PancreaticIslet20.7
ParietalLobe11.85
Pituitary24.3
Placenta13.15
Pons11.55
PrefrontalCortex15.95
Prostate37.4
Salivarygland11.1
SkeletalMuscle16.05
Skin9.85
SmoothMuscle17.2
Spinalcord16.75
SubthalamicNucleus15.45
SuperiorCervicalGanglion14.4
TemporalLobe11.8
Testis12.1
TestisGermCell13.45
TestisIntersitial9.65
TestisLeydigCell12.75
TestisSeminiferousTubule10.25
Thalamus19.3
Thymus9.95
Thyroid42.85
Tongue11
Tonsil11.9
Trachea12
TrigeminalGanglion12.7
Uterus12.5
UterusCorpus10.8
WholeBlood8.45
Wholebrain11.65
colon43.5
pineal_day118.2
pineal_night127.62
retina28.525
small_intestine18.05
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_7720_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
Amygdala6.01 ± 0.45
Basal Forebrain6.41 ± 0.25
Basal Part of Pons6.51 ± 0.39
Cerebellar Cortex6.71 ± 0.38
Cerebellar Nuclei6.32 ± 0.68
Claustrum5.68 ± 0.97
Epithalamus6.71 ± 0.5
Frontal Lobe6.37 ± 0.49
Globus Pallidus6.23 ± 0.23
Hypothalamus7.15 ± 0.29
Insula6.55 ± 0.32
Limbic Lobe5.74 ± 0.62
Mesencephalon6.17 ± 0.54
Myelencephalon6.17 ± 0.66
Occipital Lobe5.56 ± 0.59
Parietal Lobe6.03 ± 0.51
Pontine Tegmentum6.22 ± 0.62
Striatum5.82 ± 0.51
Subthalamus6.21 ± 0.5
Temporal Lobe6.21 ± 0.64
Thalamus6.27 ± 0.47
White Matter5.36 ± 0.72
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Pcbd1CBCerebellum4.9
4.32
Pcbd1CTXCerebral cortex4.12
2.71
Pcbd1HIPHippocampal region5.76
3.64
Pcbd1HPFHippocampal formation5.07
3.56
Pcbd1HYHypothalamus7.54
5.9
Pcbd1LSXLateral septal complex4.54
2.69
Pcbd1MBMidbrain1.67
1.35
Pcbd1MYMedulla3.31
2.59
Pcbd1OLFOlfactory bulb6.27
3.95
Pcbd1PPons1.83
1.47
Pcbd1PALPallidum1.13
0.74
Pcbd1RHPRetrohippocampal region4.38
3.47
Pcbd1sAMYStriatum-like amygdalar nuclei7.29
4.09
Pcbd1STRStriatum3.31
1.85
Pcbd1STRdStriatum dorsal region1.84
1.03
Pcbd1STRvStriatum ventral region4.8
2.44
Pcbd1THThalamus2.64
1.77
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00028409 16 73 88 VHITLSTHECAGLSER Peptide Atlas
PHS_HUMAN_0 0 0 0 AVGWNELEGR PRIDE
PHS_HUMAN_0 0 0 0 LSAEERDQLLPNLR PRIDE
PHS_HUMAN_21 10 21 30 AVGWNELEGR PRIDE
PHS_HUMAN_52 20 52 71 VALQAEKLDHHPEWFNVYNK PRIDE
PHS_HUMAN_7 14 7 20 LSAEERDQLLPNLR PRIDE
PHS_HUMAN_88 16 88 103 DINLASFIEQVAVSMT 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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