AutismKB 2.0

Annotation Detail for PGM1


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Basic Information Top
Gene Symbol:PGM1 ( GSD14 )
Gene Full Name: phosphoglucomutase 1
Band: 1p31.3
Quick LinksEntrez ID:5236; OMIM: 171900; Uniprot ID:PGM1_HUMAN; ENSEMBL ID: ENSG00000079739; HGNC ID: 8905
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
blastocyst5 / 6231980
fetus57 / 564012101
neonate9 / 31097289
infant0 / 236200 
juvenile6 / 55556107
adult245 / 1939121126
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma1 / 1747557
breast (mammary gland) tumor5 / 9417853
cervical tumor11 / 34366320
chondrosarcoma10 / 82823120
colorectal tumor8 / 11424670
esophageal tumor2 / 17290115
gastrointestinal tumor12 / 119369100
germ cell tumor86 / 263845325
glioma23 / 106883215
head and neck tumor20 / 136302146
kidney tumor6 / 6895987
leukemia2 / 9584220
liver tumor10 / 96359103
lung tumor11 / 103127106
lymphoma9 / 71755125
non-neoplasia23 / 97250236
normal497 / 3360307147
ovarian tumor12 / 76682156
pancreatic tumor12 / 104616114
primitive neuroectodermal tumor of the CNS6 / 12568047
prostate cancer11 / 102680107
retinoblastoma5 / 46356107
skin tumor22 / 124949176
soft tissue/muscle tissue tumor7 / 12519155
uterine tumor8 / 9025788
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue3 / 13106228
adrenal gland6 / 33197180
ascites8 / 40015199
bladder8 / 29757268
blood9 / 12347872
bone4 / 7165555
bone marrow1 / 4880120
brain201 / 1100989182
cervix11 / 48171228
connective tissue31 / 149255207
ear6 / 16212370
embryonic tissue17 / 21572278
esophagus2 / 2020998
eye19 / 21105490
heart46 / 89626513
intestine35 / 234472149
kidney27 / 211777127
larynx1 / 2414541
liver32 / 207743154
lung37 / 336974109
lymph8 / 44270180
lymph node4 / 9161043
mammary gland14 / 15327191
mouth16 / 67052238
muscle30 / 107715278
nerve1 / 1576863
ovary13 / 102051127
pancreas19 / 21481288
parathyroid1 / 2053948
pharynx2 / 4132848
pituitary gland0 / 165850 
placenta33 / 280825117
prostate30 / 189345158
salivary gland6 / 20155297
skin37 / 210574175
spleen5 / 5395292
stomach5 / 9661951
testis60 / 330442181
thymus9 / 81131110
thyroid9 / 47473189
tonsil2 / 16999117
trachea7 / 52413133
umbilical cord2 / 13680146
uterus24 / 232878103
vascular9 / 51780173
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 201968_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts335.85
Adipocyte670
AdrenalCortex91.55
Adrenalgland183.4
Amygdala127.7
Appendix13.6
AtrioventricularNode9.05
BDCA4+_DentriticCells165.25
Bonemarrow90.55
BronchialEpithelialCells430.05
CD105+_Endothelial12.1
CD14+_Monocytes162.5
CD19+_BCells(neg._sel.)69.15
CD33+_Myeloid373.35
CD34+228.75
CD4+_Tcells41.9
CD56+_NKCells256.35
CD71+_EarlyErythroid5.6
CD8+_Tcells43.35
CardiacMyocytes209.05
Caudatenucleus107.25
Cerebellum109.05
CerebellumPeduncles49.7
CiliaryGanglion11.15
CingulateCortex44.9
Colorectaladenocarcinoma75.3
DorsalRootGanglion9.15
FetalThyroid105.95
Fetalbrain32.35
Fetalliver134.75
Fetallung124.05
GlobusPallidus20.95
Heart844.8
Hypothalamus141.95
Kidney101.45
Leukemia_chronicMyelogenousK-5629.85
Leukemia_promyelocytic-HL-60198
Leukemialymphoblastic(MOLT-4)111.3
Liver1753.9
Lung387.8
Lymphnode14.85
Lymphoma_burkitts(Daudi)70.4
Lymphoma_burkitts(Raji)252
MedullaOblongata45.75
OccipitalLobe69.95
OlfactoryBulb12.5
Ovary30.8
Pancreas131.75
PancreaticIslet473.05
ParietalLobe23.5
Pituitary187.7
Placenta336.95
Pons14.85
PrefrontalCortex86.9
Prostate188.55
Salivarygland53.45
SkeletalMuscle1634.65
Skin29.35
SmoothMuscle275
Spinalcord107.8
SubthalamicNucleus31.45
SuperiorCervicalGanglion13.3
TemporalLobe45.45
Testis81
TestisGermCell24.6
TestisIntersitial15.15
TestisLeydigCell13.85
TestisSeminiferousTubule10.8
Thalamus50.25
Thymus45.25
Thyroid430.75
Tongue484.45
Tonsil16.4
Trachea60.7
TrigeminalGanglion7.4
Uterus61.55
UterusCorpus10.55
WholeBlood94
Wholebrain187.8
colon376.9
pineal_day62.04
pineal_night69.84
retina119.5
small_intestine387.3
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_12150_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
Amygdala5.66 ± 0.45
Basal Forebrain5.68 ± 0.36
Basal Part of Pons5.56 ± 0.36
Cerebellar Cortex5.49 ± 0.49
Cerebellar Nuclei5.61 ± 0.38
Claustrum4.81 ± 0.79
Epithalamus5.59 ± 0.48
Frontal Lobe5.66 ± 0.48
Globus Pallidus6.09 ± 0.3
Hypothalamus5.83 ± 0.39
Insula5.63 ± 0.39
Limbic Lobe5.35 ± 0.52
Mesencephalon5.65 ± 0.56
Myelencephalon5.49 ± 0.54
Occipital Lobe5.35 ± 0.48
Parietal Lobe5.55 ± 0.55
Pontine Tegmentum5.51 ± 0.58
Striatum5.64 ± 0.36
Subthalamus5.42 ± 0.52
Temporal Lobe5.55 ± 0.47
Thalamus5.6 ± 0.59
White Matter4.12 ± 0.49
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00005333 17 389 405 LSLCGEESFGTGSDHIR Peptide Atlas
PGM1_HUMAN_1 22 1 22 VKIVTVKTQAYQDQKPGTSGLR PRIDE
PGM1_HUMAN_108 23 108 130 AIGGIILTASHNPGGPNGDFGIK PRIDE
PGM1_HUMAN_131 16 131 146 FNISNGGPAPEAITDK PRIDE
PGM1_HUMAN_152 20 152 171 TIEEYAVCPDLKVDLGVLGK PRIDE
PGM1_HUMAN_165 8 165 172 VDLGVLGK PRIDE
PGM1_HUMAN_180 20 180 199 FKPFTVEIVDSVEAYATMLR PRIDE
PGM1_HUMAN_181 20 181 200 FKPFTVEIVDSVEAYATMLR PRIDE
PGM1_HUMAN_200 17 200 216 SIFDFSALKELLSGPNR PRIDE
PGM1_HUMAN_201 17 201 217 SIFDFSALKELLSGPNR PRIDE
PGM1_HUMAN_201 9 201 209 SIFDFSALK PRIDE
PGM1_HUMAN_221 13 221 233 IDAMHGVVGPYVK PRIDE
PGM1_HUMAN_25 27 25 51 VKVFQSSANYAENFIQSIISTVEPAQR PRIDE
PGM1_HUMAN_27 25 27 51 VFQSSANYAENFIQSIISTVEPAQR PRIDE
PGM1_HUMAN_28 25 28 52 VFQSSANYAENFIQSIISTVEPAQR PRIDE
PGM1_HUMAN_370 17 370 386 LSLCGEESFGTGSDHIR PRIDE
PGM1_HUMAN_371 17 371 387 LSLCGEESFGTGSDHIR PRIDE
PGM1_HUMAN_443 9 443 451 DLEALMFDR PRIDE
PGM1_HUMAN_444 9 444 452 DLEALMFDR PRIDE
PGM1_HUMAN_471 16 471 486 ADNFEYSDPVDGSISR PRIDE
PGM1_HUMAN_492 8 492 499 LIFTDGSR PRIDE
PGM1_HUMAN_503 12 503 514 LSGTGSAGATIR PRIDE
PGM1_HUMAN_504 12 504 515 LSGTGSAGATIR PRIDE
PGM1_HUMAN_516 12 516 527 LYIDSYEKDVAK PRIDE
PGM1_HUMAN_52 12 52 63 QEATLVVGGDGR PRIDE
PGM1_HUMAN_527 18 527 544 INQDPQVMLAPLISIALK PRIDE
PGM1_HUMAN_85 19 85 103 LVIGQNGILSTPAVSCIIR PRIDE
PGM1_HUMAN_86 19 86 104 LVIGQNGILSTPAVSCIIR PRIDE
PGM1_HUMAN_9 15 9 23 TQAYQDQKPGTSGLR 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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