AutismKB 2.0

Annotation Detail for GMPPA


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Basic Information Top
Gene Symbol:GMPPA ( - )
Gene Full Name: GDP-mannose pyrophosphorylase A
Band: 2q35
Quick LinksEntrez ID:29926; OMIM: NA; Uniprot ID:GMPPA_HUMAN; ENSEMBL ID: ENSG00000144591; HGNC ID: 22923
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
blastocyst6 / 6231996
fetus19 / 56401233
neonate1 / 3109732
infant2 / 2362084
juvenile2 / 5555635
adult206 / 1939121106
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) tumor15 / 94178159
cervical tumor1 / 3436629
chondrosarcoma10 / 82823120
colorectal tumor3 / 11424626
esophageal tumor3 / 17290173
gastrointestinal tumor19 / 119369159
germ cell tumor12 / 26384545
glioma11 / 106883102
head and neck tumor7 / 13630251
kidney tumor6 / 6895987
leukemia69 / 95842719
liver tumor7 / 9635972
lung tumor12 / 103127116
lymphoma11 / 71755153
non-neoplasia6 / 9725061
normal209 / 336030762
ovarian tumor3 / 7668239
pancreatic tumor3 / 10461628
primitive neuroectodermal tumor of the CNS21 / 125680167
prostate cancer14 / 102680136
retinoblastoma1 / 4635621
skin tumor6 / 12494948
soft tissue/muscle tissue tumor10 / 12519179
uterine tumor5 / 9025755
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland2 / 3319760
ascites9 / 40015224
bladder1 / 2975733
blood24 / 123478194
bone5 / 7165569
bone marrow57 / 488011168
brain62 / 110098956
cervix1 / 4817120
connective tissue15 / 149255100
ear0 / 162120 
embryonic tissue16 / 21572274
esophagus3 / 20209148
eye16 / 21105475
heart8 / 8962689
intestine16 / 23447268
kidney14 / 21177766
larynx1 / 2414541
liver12 / 20774357
lung20 / 33697459
lymph8 / 44270180
lymph node2 / 9161021
mammary gland17 / 153271110
mouth1 / 6705214
muscle4 / 10771537
nerve0 / 157680 
ovary5 / 10205148
pancreas5 / 21481223
parathyroid2 / 2053997
pharynx2 / 4132848
pituitary gland1 / 1658560
placenta21 / 28082574
prostate23 / 189345121
salivary gland0 / 201550 
skin18 / 21057485
spleen5 / 5395292
stomach9 / 9661993
testis9 / 33044227
thymus3 / 8113136
thyroid3 / 4747363
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord0 / 136800 
uterus18 / 23287877
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 218070_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts60.6
Adipocyte9.95
AdrenalCortex6.8
Adrenalgland5.4
Amygdala6.2
Appendix6.15
AtrioventricularNode4.75
BDCA4+_DentriticCells37.7
Bonemarrow6.25
BronchialEpithelialCells27.35
CD105+_Endothelial18.45
CD14+_Monocytes35.75
CD19+_BCells(neg._sel.)29.5
CD33+_Myeloid33.6
CD34+32.45
CD4+_Tcells25.8
CD56+_NKCells28.05
CD71+_EarlyErythroid11.7
CD8+_Tcells20.95
CardiacMyocytes8.3
Caudatenucleus7.2
Cerebellum4.65
CerebellumPeduncles7.05
CiliaryGanglion5.4
CingulateCortex6.4
Colorectaladenocarcinoma43.95
DorsalRootGanglion4.8
FetalThyroid7.15
Fetalbrain5.95
Fetalliver5.5
Fetallung5.1
GlobusPallidus5
Heart8.55
Hypothalamus6.05
Kidney5.35
Leukemia_chronicMyelogenousK-56259.55
Leukemia_promyelocytic-HL-606.7
Leukemialymphoblastic(MOLT-4)5.8
Liver19.2
Lung10.8
Lymphnode6.25
Lymphoma_burkitts(Daudi)8.9
Lymphoma_burkitts(Raji)19.15
MedullaOblongata5.5
OccipitalLobe5.6
OlfactoryBulb5.05
Ovary4.35
Pancreas9.25
PancreaticIslet9
ParietalLobe6.55
Pituitary11.45
Placenta13.45
Pons6.1
PrefrontalCortex7.5
Prostate44.75
Salivarygland5
SkeletalMuscle7.45
Skin4.85
SmoothMuscle60.1
Spinalcord6.7
SubthalamicNucleus9.45
SuperiorCervicalGanglion6.95
TemporalLobe5.65
Testis5.2
TestisGermCell5.15
TestisIntersitial4.9
TestisLeydigCell5.85
TestisSeminiferousTubule5.15
Thalamus8.15
Thymus4.85
Thyroid20.95
Tongue6.1
Tonsil6.15
Trachea6.55
TrigeminalGanglion6.3
Uterus7.55
UterusCorpus5.8
WholeBlood6.9
Wholebrain5.2
colon8.3
pineal_day14.02
pineal_night13.16
retina7.35
small_intestine6.8
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P67913
  • 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
Amygdala2.38 ± 1.04
Basal Forebrain1.71 ± 0.3
Basal Part of Pons1.75 ± 0.65
Cerebellar Cortex2.27 ± 0.76
Cerebellar Nuclei2.25 ± 0.92
Claustrum2.61 ± 0.8
Epithalamus2.17 ± 0.73
Frontal Lobe2.28 ± 0.71
Globus Pallidus2 ± 0.44
Hypothalamus2.08 ± 1
Insula2.11 ± 0.47
Limbic Lobe1.94 ± 0.71
Mesencephalon2.04 ± 0.79
Myelencephalon2.01 ± 0.81
Occipital Lobe1.46 ± 0.77
Parietal Lobe1.9 ± 0.81
Pontine Tegmentum2.18 ± 0.86
Striatum1.59 ± 0.71
Subthalamus2.03 ± 0.78
Temporal Lobe2.05 ± 0.89
Thalamus1.94 ± 0.72
White Matter2.45 ± 1.15
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
GmppaCBCerebellum2.07
2.18
GmppaCTXCerebral cortex3.3
2.32
GmppaHIPHippocampal region11.78
11.79
GmppaHPFHippocampal formation7.69
7.22
GmppaHYHypothalamus0.69
0.48
GmppaLSXLateral septal complex0.63
0.49
GmppaMBMidbrain2.08
2.07
GmppaMYMedulla5.26
4.94
GmppaOLFOlfactory bulb3.52
2.4
GmppaPPons3.92
4.05
GmppaPALPallidum1.71
1.82
GmppaRHPRetrohippocampal region1.96
1.76
GmppasAMYStriatum-like amygdalar nuclei2.87
2
GmppaSTRStriatum1.44
1.07
GmppaSTRdStriatum dorsal region1.14
0.89
GmppaSTRvStriatum ventral region2.18
1.42
GmppaTHThalamus1.52
1.37
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
GMPPA_HUMAN_352 14 352 365 VEGTPSDPNPNDPR PRIDE
PAp00503158 21 201 221 NQQDGQLEDSPGLWPGAGTIR 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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