AutismKB 2.0

Annotation Detail for PGAM5


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Basic Information Top
Gene Symbol:PGAM5 ( BXLBV68,MGC5352 )
Gene Full Name: phosphoglycerate mutase family member 5
Band: 12q24.33
Quick LinksEntrez ID:192111; OMIM: NA; Uniprot ID:PGAM5_HUMAN; ENSEMBL ID: ENSG00000176894; HGNC ID: 28763
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 body1 / 7076114
blastocyst5 / 6231980
fetus1 / 5640121
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult22 / 193912111
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma2 / 17475114
breast (mammary gland) tumor2 / 9417821
cervical tumor2 / 3436658
chondrosarcoma1 / 8282312
colorectal tumor1 / 1142468
esophageal tumor0 / 172900 
gastrointestinal tumor2 / 11936916
germ cell tumor8 / 26384530
glioma3 / 10688328
head and neck tumor0 / 1363020 
kidney tumor1 / 6895914
leukemia5 / 9584252
liver tumor9 / 9635993
lung tumor0 / 1031270 
lymphoma1 / 7175513
non-neoplasia0 / 972500 
normal31 / 33603079
ovarian tumor1 / 7668213
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS9 / 12568071
prostate cancer0 / 1026800 
retinoblastoma1 / 4635621
skin tumor3 / 12494924
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 gland0 / 331970 
ascites1 / 4001524
bladder3 / 29757100
blood3 / 12347824
bone1 / 7165513
bone marrow0 / 488010 
brain10 / 11009899
cervix5 / 48171103
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue7 / 21572232
esophagus0 / 202090 
eye2 / 2110549
heart0 / 896260 
intestine4 / 23447217
kidney2 / 2117779
larynx0 / 241450 
liver9 / 20774343
lung2 / 3369745
lymph0 / 442700 
lymph node0 / 916100 
mammary gland2 / 15327113
mouth0 / 670520 
muscle1 / 1077159
nerve0 / 157680 
ovary6 / 10205158
pancreas3 / 21481213
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta3 / 28082510
prostate6 / 18934531
salivary gland0 / 201550 
skin3 / 21057414
spleen0 / 539520 
stomach1 / 9661910
testis5 / 33044215
thymus0 / 811310 
thyroid1 / 4747321
tonsil1 / 1699958
trachea0 / 524130 
umbilical cord0 / 136800 
uterus4 / 23287817
vascular0 / 517800 
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P426398
  • 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
Amygdala3.64 ± 0.74
Basal Forebrain3.8 ± 0.3
Basal Part of Pons3.6 ± 0.62
Cerebellar Cortex3.7 ± 0.54
Cerebellar Nuclei3.38 ± 0.65
Claustrum3.67 ± 0.76
Epithalamus3.07 ± 0.57
Frontal Lobe3.79 ± 0.54
Globus Pallidus2.78 ± 0.54
Hypothalamus3.21 ± 0.5
Insula3.72 ± 0.43
Limbic Lobe3.82 ± 0.56
Mesencephalon3.57 ± 0.79
Myelencephalon3.56 ± 0.61
Occipital Lobe3.3 ± 0.72
Parietal Lobe3.46 ± 0.63
Pontine Tegmentum3.49 ± 0.62
Striatum2.9 ± 0.86
Subthalamus3.12 ± 0.69
Temporal Lobe3.74 ± 0.52
Thalamus3.27 ± 0.63
White Matter2.77 ± 0.22
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Pgam5CBCerebellum15.98
17.74
Pgam5CTXCerebral cortex76.13
67.41
Pgam5HIPHippocampal region43.35
81.61
Pgam5HPFHippocampal formation57.4
78.16
Pgam5HYHypothalamus14.97
12.47
Pgam5LSXLateral septal complex22.21
18.03
Pgam5MBMidbrain26.84
25.13
Pgam5MYMedulla26.8
28.38
Pgam5OLFOlfactory bulb49.94
45.04
Pgam5PPons27.61
29.7
Pgam5PALPallidum16.49
15.7
Pgam5RHPRetrohippocampal region85.78
79.77
Pgam5sAMYStriatum-like amygdalar nuclei16.97
14.07
Pgam5STRStriatum19.12
15.04
Pgam5STRdStriatum dorsal region17.51
14.09
Pgam5STRvStriatum ventral region23.8
16.7
Pgam5THThalamus32.14
31.35
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00003542 12 105 116 HSQYHVDGSLEK 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