AutismKB 2.0

Annotation Detail for PGM2L1


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Basic Information Top
Gene Symbol:PGM2L1 ( BM32A,FLJ32029 )
Gene Full Name: phosphoglucomutase 2-like 1
Band: 11q13.4
Quick LinksEntrez ID:283209; OMIM: 611610; Uniprot ID:PGM2L_HUMAN; ENSEMBL ID: ENSG00000165434; HGNC ID: 20898
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 body2 / 7076128
blastocyst1 / 6231916
fetus59 / 564012104
neonate3 / 3109796
infant1 / 2362042
juvenile3 / 5555653
adult77 / 193912139
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) tumor0 / 941780 
cervical tumor2 / 3436658
chondrosarcoma6 / 8282372
colorectal tumor2 / 11424617
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor20 / 26384575
glioma0 / 1068830 
head and neck tumor2 / 13630214
kidney tumor6 / 6895987
leukemia2 / 9584220
liver tumor2 / 9635920
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia5 / 9725051
normal189 / 336030756
ovarian tumor5 / 7668265
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer2 / 10268019
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor1 / 1251917
uterine tumor2 / 9025722
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood6 / 12347848
bone9 / 71655125
bone marrow0 / 488010 
brain122 / 1100989110
cervix2 / 4817141
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue8 / 21572237
esophagus0 / 202090 
eye7 / 21105433
heart0 / 896260 
intestine4 / 23447217
kidney8 / 21177737
larynx0 / 241450 
liver4 / 20774319
lung6 / 33697417
lymph0 / 442700 
lymph node0 / 916100 
mammary gland6 / 15327139
mouth4 / 6705259
muscle6 / 10771555
nerve1 / 1576863
ovary5 / 10205148
pancreas5 / 21481223
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland1 / 1658560
placenta7 / 28082524
prostate2 / 18934510
salivary gland0 / 201550 
skin0 / 2105740 
spleen1 / 5395218
stomach0 / 966190 
testis13 / 33044239
thymus4 / 8113149
thyroid1 / 4747321
tonsil0 / 169990 
trachea3 / 5241357
umbilical cord1 / 1368073
uterus3 / 23287812
vascular2 / 5178038
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P396765
  • 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
Amygdala10.77 ± 0.56
Basal Forebrain10.12 ± 0.38
Basal Part of Pons10.86 ± 0.48
Cerebellar Cortex10.1 ± 0.22
Cerebellar Nuclei9.77 ± 0.59
Claustrum10.71 ± 0.26
Epithalamus9.58 ± 0.85
Frontal Lobe10.74 ± 0.49
Globus Pallidus8.76 ± 1.16
Hypothalamus10.98 ± 0.36
Insula10.9 ± 0.25
Limbic Lobe11.03 ± 0.73
Mesencephalon10.51 ± 0.86
Myelencephalon10.32 ± 0.89
Occipital Lobe9.92 ± 0.88
Parietal Lobe10.5 ± 0.62
Pontine Tegmentum10.18 ± 0.65
Striatum9.09 ± 1.33
Subthalamus10.68 ± 0.32
Temporal Lobe10.9 ± 0.43
Thalamus10.16 ± 0.51
White Matter8.48 ± 1.02
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Pgm2l1CBCerebellum67.22
84.36
Pgm2l1CTXCerebral cortex100
100
Pgm2l1HIPHippocampal region100
100
Pgm2l1HPFHippocampal formation100
100
Pgm2l1HYHypothalamus92.95
100
Pgm2l1LSXLateral septal complex77.14
85.55
Pgm2l1MBMidbrain89.47
100
Pgm2l1MYMedulla71.2
92.29
Pgm2l1OLFOlfactory bulb90.72
100
Pgm2l1PPons77.79
100
Pgm2l1PALPallidum79.24
88.77
Pgm2l1RHPRetrohippocampal region100
100
Pgm2l1sAMYStriatum-like amygdalar nuclei91.22
100
Pgm2l1STRStriatum73.5
80.01
Pgm2l1STRdStriatum dorsal region70.86
75.86
Pgm2l1STRvStriatum ventral region74.75
74.47
Pgm2l1THThalamus100
100
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00024483 16 303 318 CPNPEEGESVLELSLR 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