AutismKB 2.0

Annotation Detail for PYGL


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Basic Information Top
Gene Symbol:PYGL ( GSD6 )
Gene Full Name: phosphorylase, glycogen, liver
Band: 14q22.1
Quick LinksEntrez ID:5836; OMIM: 232700; Uniprot ID:PYGL_HUMAN; ENSEMBL ID: ENSG00000100504; HGNC ID: 9725
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 body4 / 7076156
blastocyst0 / 623190 
fetus26 / 56401246
neonate4 / 31097128
infant0 / 236200 
juvenile4 / 5555671
adult123 / 193912163
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor2 / 12794156
bladder carcinoma4 / 17475228
breast (mammary gland) tumor6 / 9417863
cervical tumor1 / 3436629
chondrosarcoma10 / 82823120
colorectal tumor4 / 11424635
esophageal tumor0 / 172900 
gastrointestinal tumor14 / 119369117
germ cell tumor17 / 26384564
glioma6 / 10688356
head and neck tumor13 / 13630295
kidney tumor4 / 6895958
leukemia24 / 95842250
liver tumor14 / 96359145
lung tumor7 / 10312767
lymphoma4 / 7175555
non-neoplasia1 / 9725010
normal137 / 336030740
ovarian tumor3 / 7668239
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS12 / 12568095
prostate cancer10 / 10268097
retinoblastoma0 / 463560 
skin tumor15 / 124949120
soft tissue/muscle tissue tumor17 / 125191135
uterine tumor6 / 9025766
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue3 / 13106228
adrenal gland2 / 3319760
ascites3 / 4001574
bladder7 / 29757235
blood30 / 123478242
bone5 / 7165569
bone marrow3 / 4880161
brain16 / 110098914
cervix1 / 4817120
connective tissue9 / 14925560
ear0 / 162120 
embryonic tissue7 / 21572232
esophagus0 / 202090 
eye9 / 21105442
heart5 / 8962655
intestine4 / 23447217
kidney13 / 21177761
larynx1 / 2414541
liver23 / 207743110
lung10 / 33697429
lymph0 / 442700 
lymph node4 / 9161043
mammary gland12 / 15327178
mouth11 / 67052164
muscle2 / 10771518
nerve1 / 1576863
ovary5 / 10205148
pancreas2 / 2148129
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta23 / 28082581
prostate14 / 18934573
salivary gland0 / 201550 
skin21 / 21057499
spleen5 / 5395292
stomach9 / 9661993
testis8 / 33044224
thymus2 / 8113124
thyroid1 / 4747321
tonsil0 / 169990 
trachea2 / 5241338
umbilical cord0 / 136800 
uterus26 / 232878111
vascular8 / 51780154
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 202990_at
Cell line Expression level Expression bar
721_B_lymphoblasts7.3
Adipocyte23.8
AdrenalCortex7.65
Adrenalgland5.85
Amygdala6.9
Appendix7.55
AtrioventricularNode6.4
BDCA4+_DentriticCells7
Bonemarrow46.7
BronchialEpithelialCells66.55
CD105+_Endothelial6.4
CD14+_Monocytes139.55
CD19+_BCells(neg._sel.)6.7
CD33+_Myeloid132.35
CD34+9
CD4+_Tcells6.7
CD56+_NKCells7.95
CD71+_EarlyErythroid6.1
CD8+_Tcells5.75
CardiacMyocytes11.95
Caudatenucleus6.05
Cerebellum5.4
CerebellumPeduncles7.85
CiliaryGanglion5.1
CingulateCortex6.9
Colorectaladenocarcinoma22.15
DorsalRootGanglion5.65
FetalThyroid6.5
Fetalbrain6.55
Fetalliver23.55
Fetallung6.8
GlobusPallidus5.2
Heart9.05
Hypothalamus6.95
Kidney5.8
Leukemia_chronicMyelogenousK-56222.95
Leukemia_promyelocytic-HL-605.75
Leukemialymphoblastic(MOLT-4)5.1
Liver10
Lung9.2
Lymphnode5.55
Lymphoma_burkitts(Daudi)8.4
Lymphoma_burkitts(Raji)9.4
MedullaOblongata5.8
OccipitalLobe5.85
OlfactoryBulb5.45
Ovary5.75
Pancreas5.65
PancreaticIslet6.95
ParietalLobe7.3
Pituitary8.55
Placenta10.3
Pons6.5
PrefrontalCortex8
Prostate8.35
Salivarygland5.55
SkeletalMuscle9.5
Skin6.55
SmoothMuscle14.05
Spinalcord7.3
SubthalamicNucleus6.2
SuperiorCervicalGanglion9.05
TemporalLobe6.2
Testis5.6
TestisGermCell6.75
TestisIntersitial6
TestisLeydigCell6.7
TestisSeminiferousTubule5.8
Thalamus6.65
Thymus4.95
Thyroid8.05
Tongue9.9
Tonsil6.6
Trachea6.2
TrigeminalGanglion8
Uterus7.2
UterusCorpus6.6
WholeBlood162.8
Wholebrain5.2
colon6.7
pineal_day8.04
pineal_night7.88
retina17.475
small_intestine6.35
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_16608_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
Amygdala4.79 ± 0.5
Basal Forebrain4.92 ± 0.69
Basal Part of Pons4.63 ± 0.22
Cerebellar Cortex4.37 ± 0.57
Cerebellar Nuclei5.11 ± 0.4
Claustrum4.25 ± 0.93
Epithalamus5.09 ± 0.24
Frontal Lobe4.77 ± 0.66
Globus Pallidus5.79 ± 0.3
Hypothalamus4.65 ± 0.76
Insula5.2 ± 0.51
Limbic Lobe4.56 ± 0.65
Mesencephalon5.21 ± 1.04
Myelencephalon4.92 ± 0.56
Occipital Lobe4.21 ± 0.6
Parietal Lobe4.51 ± 0.49
Pontine Tegmentum4.46 ± 0.53
Striatum5.64 ± 0.42
Subthalamus4.75 ± 0.57
Temporal Lobe4.8 ± 0.54
Thalamus5.09 ± 0.55
White Matter5.28 ± 0.72
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00003968 19 440 458 INMAHLCIVGSHAVNGVAK Peptide Atlas
PYGL_HUMAN_1 10 1 10 AKPLTDQEKR PRIDE
PYGL_HUMAN_139 22 139 160 LAACFLDSMATLGLAAYGYGIR PRIDE
PYGL_HUMAN_170 15 170 184 IRDGWQVEEADDWLR PRIDE
PYGL_HUMAN_192 14 192 205 SRPEFMLPVHFYGK PRIDE
PYGL_HUMAN_192 23 192 214 SRPEFMLPVHFYGKVEHTNTGTK PRIDE
PYGL_HUMAN_2 10 2 11 AKPLTDQEKR PRIDE
PYGL_HUMAN_256 14 256 269 DFNVGDYIQAVLDR PRIDE
PYGL_HUMAN_256 22 256 277 DFNVGDYIQAVLDRNLAENISR PRIDE
PYGL_HUMAN_278 12 278 289 VLYPNDNFFEGK PRIDE
PYGL_HUMAN_278 15 278 292 VLYPNDNFFEGKELR PRIDE
PYGL_HUMAN_293 17 293 309 LKQEYFVVAATLQDIIR PRIDE
PYGL_HUMAN_293 18 293 310 LKQEYFVVAATLQDIIRR PRIDE
PYGL_HUMAN_352 12 352 363 IFVDIEKLPWSK PRIDE
PYGL_HUMAN_371 24 371 394 TFAYTNHTVLPEALERWPVDLVEK PRIDE
PYGL_HUMAN_399 11 399 409 HLEIIYEINQK PRIDE
PYGL_HUMAN_490 17 490 506 RWLLLCNPGLAELIAEK PRIDE
PYGL_HUMAN_491 16 491 506 WLLLCNPGLAELIAEK PRIDE
PYGL_HUMAN_50 11 50 60 DYYFALAHTVR PRIDE
PYGL_HUMAN_521 12 521 532 LHSFLGDDVFLR PRIDE
PYGL_HUMAN_545 10 545 554 FSQFLETEYK PRIDE
PYGL_HUMAN_557 12 557 568 INPSSMFDVQVK PRIDE
PYGL_HUMAN_622 18 622 639 LITSVADVVNNDPMVGSK PRIDE
PYGL_HUMAN_642 8 642 649 VIFLENYR PRIDE
PYGL_HUMAN_730 10 730 739 EYYEALPELK PRIDE
PYGL_HUMAN_740 14 740 753 LVIDQIDNGFFSPK PRIDE
PYGL_HUMAN_754 19 754 772 QPDLFKDIINMLFYHDRFK PRIDE
PYGL_HUMAN_761 11 761 771 DIINMLFYHDR PRIDE
PYGL_HUMAN_816 18 816 833 TIKEYAQNIWNVEPSDLK 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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