AutismKB 2.0

Annotation Detail for PMM1


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Basic Information Top
Gene Symbol:PMM1 ( Sec53 )
Gene Full Name: phosphomannomutase 1
Band: 22q13.2
Quick LinksEntrez ID:5372; OMIM: 601786; Uniprot ID:PMM1_HUMAN; ENSEMBL ID: ENSG00000100417; HGNC ID: 9114
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
blastocyst2 / 6231932
fetus31 / 56401254
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult74 / 193912138
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) tumor2 / 9417821
cervical tumor2 / 3436658
chondrosarcoma3 / 8282336
colorectal tumor2 / 11424617
esophageal tumor1 / 1729057
gastrointestinal tumor7 / 11936958
germ cell tumor3 / 26384511
glioma6 / 10688356
head and neck tumor1 / 1363027
kidney tumor3 / 6895943
leukemia0 / 958420 
liver tumor7 / 9635972
lung tumor3 / 10312729
lymphoma1 / 7175513
non-neoplasia1 / 9725010
normal134 / 336030739
ovarian tumor1 / 7668213
pancreatic tumor6 / 10461657
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer9 / 10268087
retinoblastoma2 / 4635643
skin tumor26 / 124949208
soft tissue/muscle tissue tumor4 / 12519131
uterine tumor2 / 9025722
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue2 / 13106152
adrenal gland2 / 3319760
ascites4 / 4001599
bladder0 / 297570 
blood2 / 12347816
bone2 / 7165527
bone marrow2 / 4880140
brain46 / 110098941
cervix3 / 4817162
connective tissue2 / 14925513
ear0 / 162120 
embryonic tissue5 / 21572223
esophagus1 / 2020949
eye9 / 21105442
heart3 / 8962633
intestine6 / 23447225
kidney9 / 21177742
larynx0 / 241450 
liver16 / 20774377
lung8 / 33697423
lymph1 / 4427022
lymph node1 / 9161010
mammary gland3 / 15327119
mouth0 / 670520 
muscle4 / 10771537
nerve0 / 157680 
ovary3 / 10205129
pancreas7 / 21481232
parathyroid1 / 2053948
pharynx2 / 4132848
pituitary gland0 / 165850 
placenta14 / 28082549
prostate12 / 18934563
salivary gland0 / 201550 
skin31 / 210574147
spleen1 / 5395218
stomach1 / 9661910
testis9 / 33044227
thymus2 / 8113124
thyroid1 / 4747321
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus9 / 23287838
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 203467_at
Cell line Expression level Expression bar
721_B_lymphoblasts26.75
Adipocyte14.95
AdrenalCortex14.95
Adrenalgland12.45
Amygdala22.7
Appendix10.2
AtrioventricularNode8.4
BDCA4+_DentriticCells11.1
Bonemarrow12.45
BronchialEpithelialCells19.6
CD105+_Endothelial14.95
CD14+_Monocytes15.75
CD19+_BCells(neg._sel.)13.05
CD33+_Myeloid18.1
CD34+9.45
CD4+_Tcells16.9
CD56+_NKCells15.6
CD71+_EarlyErythroid16.3
CD8+_Tcells17.3
CardiacMyocytes15.9
Caudatenucleus18.05
Cerebellum11.95
CerebellumPeduncles18.35
CiliaryGanglion6.35
CingulateCortex17.45
Colorectaladenocarcinoma11
DorsalRootGanglion8.65
FetalThyroid12.25
Fetalbrain27.4
Fetalliver12.9
Fetallung15.85
GlobusPallidus13.75
Heart18.9
Hypothalamus22.1
Kidney18.2
Leukemia_chronicMyelogenousK-56213.2
Leukemia_promyelocytic-HL-6011.75
Leukemialymphoblastic(MOLT-4)15.05
Liver40.25
Lung50.5
Lymphnode7.55
Lymphoma_burkitts(Daudi)17.25
Lymphoma_burkitts(Raji)12
MedullaOblongata11.95
OccipitalLobe14.7
OlfactoryBulb12.4
Ovary11.25
Pancreas10.05
PancreaticIslet12.7
ParietalLobe17.55
Pituitary13.85
Placenta10.4
Pons14.65
PrefrontalCortex36.4
Prostate19.65
Salivarygland5.6
SkeletalMuscle13.1
Skin10.45
SmoothMuscle19.55
Spinalcord16.2
SubthalamicNucleus15.95
SuperiorCervicalGanglion9.8
TemporalLobe21.1
Testis20.8
TestisGermCell14.95
TestisIntersitial15.75
TestisLeydigCell14.95
TestisSeminiferousTubule14.85
Thalamus15.9
Thymus11.8
Thyroid14.15
Tongue13.35
Tonsil12.9
Trachea9.9
TrigeminalGanglion11.5
Uterus15.15
UterusCorpus11.6
WholeBlood12.95
Wholebrain55.5
colon14.15
pineal_day19.6
pineal_night18.26
retina24.95
small_intestine11.65
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_11039_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
Amygdala5.49 ± 0.51
Basal Forebrain5.4 ± 0.35
Basal Part of Pons5.87 ± 0.35
Cerebellar Cortex5.48 ± 0.52
Cerebellar Nuclei4.88 ± 0.55
Claustrum5.57 ± 0.46
Epithalamus5.51 ± 0.38
Frontal Lobe5.74 ± 0.45
Globus Pallidus4.97 ± 0.49
Hypothalamus5.84 ± 0.39
Insula5.78 ± 0.32
Limbic Lobe5.55 ± 0.48
Mesencephalon5.28 ± 0.46
Myelencephalon5.51 ± 0.55
Occipital Lobe5.02 ± 0.5
Parietal Lobe5.49 ± 0.44
Pontine Tegmentum5.47 ± 0.53
Striatum5.36 ± 0.48
Subthalamus5.29 ± 0.43
Temporal Lobe5.68 ± 0.49
Thalamus5.47 ± 0.39
White Matter4.5 ± 0.43
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Pmm1CBCerebellum34.27
80.72
Pmm1CTXCerebral cortex100
100
Pmm1HIPHippocampal region100
100
Pmm1HPFHippocampal formation100
100
Pmm1HYHypothalamus49.22
46.73
Pmm1LSXLateral septal complex37.22
30.55
Pmm1MBMidbrain59.93
66.17
Pmm1MYMedulla72.68
93.84
Pmm1OLFOlfactory bulb95.05
98.54
Pmm1PPons63.12
84.39
Pmm1PALPallidum47.99
54.11
Pmm1RHPRetrohippocampal region100
100
Pmm1sAMYStriatum-like amygdalar nuclei54.28
49.16
Pmm1STRStriatum57.77
49.43
Pmm1STRdStriatum dorsal region56.55
48.24
Pmm1STRvStriatum ventral region73.1
59.88
Pmm1THThalamus96.12
97.71
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00069978 14 59 72 IAEQLGDGDEVIEK Peptide Atlas
PMM1_HUMAN_2 8 2 9 AVTAQAAR PRIDE
PMM1_HUMAN_29 15 29 43 QKIDPEVAAFLQKLR 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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