AutismKB 2.0

Annotation Detail for GMPPB


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:GMPPB ( KIAA1851 )
Gene Full Name: GDP-mannose pyrophosphorylase B
Band: 3p21.31
Quick LinksEntrez ID:29925; OMIM: NA; Uniprot ID:GMPPB_HUMAN; ENSEMBL ID: ENSG00000173540; HGNC ID: 22932
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 body6 / 7076184
blastocyst2 / 6231932
fetus3 / 5640125
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult74 / 193912138
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
chondrosarcoma1 / 8282312
colorectal tumor4 / 11424635
esophageal tumor0 / 172900 
gastrointestinal tumor1 / 1193698
germ cell tumor9 / 26384534
glioma1 / 1068839
head and neck tumor1 / 1363027
kidney tumor1 / 6895914
leukemia2 / 9584220
liver tumor3 / 9635931
lung tumor1 / 1031279
lymphoma0 / 717550 
non-neoplasia1 / 9725010
normal82 / 336030724
ovarian tumor0 / 766820 
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer8 / 10268077
retinoblastoma1 / 4635621
skin tumor14 / 124949112
soft tissue/muscle tissue tumor3 / 12519123
uterine tumor1 / 9025711
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites1 / 4001524
bladder0 / 297570 
blood0 / 1234780 
bone2 / 7165527
bone marrow0 / 488010 
brain8 / 11009897
cervix1 / 4817120
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue9 / 21572241
esophagus0 / 202090 
eye7 / 21105433
heart0 / 896260 
intestine7 / 23447229
kidney10 / 21177747
larynx0 / 241450 
liver5 / 20774324
lung7 / 33697420
lymph0 / 442700 
lymph node1 / 9161010
mammary gland7 / 15327145
mouth1 / 6705214
muscle0 / 1077150 
nerve0 / 157680 
ovary3 / 10205129
pancreas1 / 2148124
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta28 / 28082599
prostate13 / 18934568
salivary gland0 / 201550 
skin14 / 21057466
spleen1 / 5395218
stomach0 / 966190 
testis4 / 33044212
thymus1 / 8113112
thyroid0 / 474730 
tonsil0 / 169990 
trachea6 / 52413114
umbilical cord0 / 136800 
uterus5 / 23287821
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 219920_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts32.35
Adipocyte13.8
AdrenalCortex17.95
Adrenalgland16.7
Amygdala14.15
Appendix12.05
AtrioventricularNode10.5
BDCA4+_DentriticCells39.15
Bonemarrow19.25
BronchialEpithelialCells28.1
CD105+_Endothelial13.5
CD14+_Monocytes15
CD19+_BCells(neg._sel.)15.55
CD33+_Myeloid18.15
CD34+17.45
CD4+_Tcells15.55
CD56+_NKCells17.85
CD71+_EarlyErythroid14.7
CD8+_Tcells17.1
CardiacMyocytes25.55
Caudatenucleus12.55
Cerebellum11.3
CerebellumPeduncles17.05
CiliaryGanglion7.1
CingulateCortex14
Colorectaladenocarcinoma18.85
DorsalRootGanglion10.55
FetalThyroid12.45
Fetalbrain14.1
Fetalliver12.2
Fetallung13.95
GlobusPallidus9.5
Heart29.45
Hypothalamus15.55
Kidney12.55
Leukemia_chronicMyelogenousK-56212.5
Leukemia_promyelocytic-HL-6012.5
Leukemialymphoblastic(MOLT-4)16.05
Liver41.85
Lung24.3
Lymphnode21
Lymphoma_burkitts(Daudi)27.85
Lymphoma_burkitts(Raji)19.8
MedullaOblongata12.15
OccipitalLobe12.4
OlfactoryBulb10.95
Ovary9.45
Pancreas11.85
PancreaticIslet29.1
ParietalLobe14.7
Pituitary22.25
Placenta14.85
Pons13.3
PrefrontalCortex14.6
Prostate35.4
Salivarygland11.05
SkeletalMuscle15.75
Skin10.55
SmoothMuscle32.8
Spinalcord14.8
SubthalamicNucleus12.55
SuperiorCervicalGanglion15.75
TemporalLobe11.1
Testis12.7
TestisGermCell12.25
TestisIntersitial11.4
TestisLeydigCell13.3
TestisSeminiferousTubule11.55
Thalamus15.25
Thymus14.75
Thyroid24.85
Tongue13.65
Tonsil17.6
Trachea15.5
TrigeminalGanglion8.9
Uterus12.2
UterusCorpus13.45
WholeBlood12.75
Wholebrain12.15
colon21.45
pineal_day16.12
pineal_night14.2
retina16.5
small_intestine17.75
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_10082_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
Amygdala3.55 ± 0.82
Basal Forebrain2.62 ± 0.31
Basal Part of Pons3.12 ± 0.6
Cerebellar Cortex3.22 ± 0.62
Cerebellar Nuclei3.31 ± 0.55
Claustrum3.13 ± 0.86
Epithalamus2.9 ± 0.52
Frontal Lobe3.24 ± 0.71
Globus Pallidus3 ± 0.77
Hypothalamus2.98 ± 0.6
Insula2.91 ± 0.98
Limbic Lobe3.24 ± 0.81
Mesencephalon3.19 ± 0.74
Myelencephalon3.19 ± 0.64
Occipital Lobe2.96 ± 0.59
Parietal Lobe3.15 ± 0.65
Pontine Tegmentum3.12 ± 0.66
Striatum3.03 ± 0.65
Subthalamus3.51 ± 0.5
Temporal Lobe3.21 ± 0.52
Thalamus3.01 ± 0.6
White Matter2.89 ± 0.51
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
GmppbCBCerebellum0.63
0.92
GmppbCTXCerebral cortex1.42
1.03
GmppbHIPHippocampal region4.03
3.89
GmppbHPFHippocampal formation3.57
3.16
GmppbHYHypothalamus0.04
0.02
GmppbLSXLateral septal complex0.74
0.65
GmppbMBMidbrain0.16
0.23
GmppbMYMedulla0.97
1.44
GmppbOLFOlfactory bulb1.36
1.14
GmppbPPons0.29
0.57
GmppbPALPallidum0.28
0.15
GmppbRHPRetrohippocampal region2.78
2.13
GmppbsAMYStriatum-like amygdalar nuclei0.59
0.52
GmppbSTRStriatum0.44
0.39
GmppbSTRdStriatum dorsal region0.34
0.27
GmppbSTRvStriatum ventral region0.62
0.61
GmppbTHThalamus0.28
0.41
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
GMPPB_HUMAN_2 11 2 12 ALILVGGYGTR PRIDE
PAp00004771 18 244 261 LCSGPGIVGNVLVDPSAR 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