AutismKB 2.0

Annotation Detail for PMS2


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Basic Information Top
Gene Symbol:PMS2 ( HNPCC4,PMS2CL,PMSL2 )
Gene Full Name: PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
Band: 7p22.1
Quick LinksEntrez ID:5395; OMIM: 600259; Uniprot ID:PMS2_HUMAN; ENSEMBL ID: ENSG00000122512; HGNC ID: 9122
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
blastocyst0 / 623190 
fetus11 / 56401219
neonate0 / 310970 
infant0 / 236200 
juvenile2 / 5555635
adult47 / 193912124
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 tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor2 / 11424617
esophageal tumor0 / 172900 
gastrointestinal tumor1 / 1193698
germ cell tumor8 / 26384530
glioma1 / 1068839
head and neck tumor2 / 13630214
kidney tumor3 / 6895943
leukemia0 / 958420 
liver tumor1 / 9635910
lung tumor0 / 1031270 
lymphoma5 / 7175569
non-neoplasia0 / 972500 
normal71 / 336030721
ovarian tumor1 / 7668213
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS6 / 12568047
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 gland1 / 3319730
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone0 / 716550 
bone marrow3 / 4880161
brain34 / 110098930
cervix0 / 481710 
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue3 / 21572213
esophagus0 / 202090 
eye4 / 21105418
heart2 / 8962622
intestine5 / 23447221
kidney3 / 21177714
larynx0 / 241450 
liver3 / 20774314
lung2 / 3369745
lymph2 / 4427045
lymph node1 / 9161010
mammary gland6 / 15327139
mouth0 / 670520 
muscle6 / 10771555
nerve0 / 157680 
ovary1 / 1020519
pancreas1 / 2148124
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta7 / 28082524
prostate1 / 1893455
salivary gland0 / 201550 
skin3 / 21057414
spleen0 / 539520 
stomach0 / 966190 
testis10 / 33044230
thymus1 / 8113112
thyroid2 / 4747342
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord0 / 136800 
uterus7 / 23287830
vascular2 / 5178038
Microarray in BioGPS Top
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  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 209805_at
Cell line Expression level Expression bar
721_B_lymphoblasts17.5
Adipocyte4.35
AdrenalCortex4.65
Adrenalgland3.7
Amygdala4.6
Appendix4.4
AtrioventricularNode3.5
BDCA4+_DentriticCells6.7
Bonemarrow4.3
BronchialEpithelialCells4.35
CD105+_Endothelial4.5
CD14+_Monocytes5.6
CD19+_BCells(neg._sel.)4.85
CD33+_Myeloid5.7
CD34+5.8
CD4+_Tcells7
CD56+_NKCells6.8
CD71+_EarlyErythroid4.1
CD8+_Tcells4.8
CardiacMyocytes5.6
Caudatenucleus4
Cerebellum3.55
CerebellumPeduncles5
CiliaryGanglion3.85
CingulateCortex4.55
Colorectaladenocarcinoma4.4
DorsalRootGanglion3.45
FetalThyroid4.3
Fetalbrain4.45
Fetalliver3.75
Fetallung3.65
GlobusPallidus3.3
Heart5.7
Hypothalamus6.6
Kidney3.65
Leukemia_chronicMyelogenousK-5624
Leukemia_promyelocytic-HL-604.25
Leukemialymphoblastic(MOLT-4)3.5
Liver5.7
Lung4.8
Lymphnode3.8
Lymphoma_burkitts(Daudi)5.7
Lymphoma_burkitts(Raji)6.2
MedullaOblongata4
OccipitalLobe4
OlfactoryBulb3.45
Ovary2.9
Pancreas3.55
PancreaticIslet4.7
ParietalLobe4.7
Pituitary5.1
Placenta4.9
Pons4.2
PrefrontalCortex5.6
Prostate5.15
Salivarygland3.5
SkeletalMuscle5.25
Skin3.5
SmoothMuscle5
Spinalcord5.05
SubthalamicNucleus5.55
SuperiorCervicalGanglion5.05
TemporalLobe4.05
Testis3.75
TestisGermCell4.05
TestisIntersitial3.7
TestisLeydigCell4.7
TestisSeminiferousTubule5.55
Thalamus4.5
Thymus3.45
Thyroid5.45
Tongue4.4
Tonsil4.25
Trachea3.7
TrigeminalGanglion4.4
Uterus3.55
UterusCorpus3.9
WholeBlood4.85
Wholebrain3.7
colon4.35
pineal_day5.94
pineal_night5.92
retina5.3
small_intestine4.2
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P31348
  • 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
Amygdala7.92 ± 0.18
Basal Forebrain7.78 ± 0.12
Basal Part of Pons7.61 ± 0.11
Cerebellar Cortex7.94 ± 0.16
Cerebellar Nuclei7.65 ± 0.17
Claustrum7.85 ± 0.39
Epithalamus7.44 ± 0.23
Frontal Lobe7.6 ± 0.3
Globus Pallidus7.73 ± 0.24
Hypothalamus7.51 ± 0.24
Insula7.69 ± 0.19
Limbic Lobe7.82 ± 0.25
Mesencephalon7.71 ± 0.27
Myelencephalon7.66 ± 0.27
Occipital Lobe7.9 ± 0.2
Parietal Lobe7.72 ± 0.25
Pontine Tegmentum7.71 ± 0.32
Striatum7.51 ± 0.24
Subthalamus7.76 ± 0.21
Temporal Lobe7.71 ± 0.28
Thalamus7.59 ± 0.22
White Matter8.24 ± 0.09
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Pms2CBCerebellum4.12
4.15
Pms2CTXCerebral cortex9.02
6.14
Pms2HIPHippocampal region7.01
6.26
Pms2HPFHippocampal formation5.93
5.04
Pms2HYHypothalamus1.86
1.87
Pms2LSXLateral septal complex0.2
0.28
Pms2MBMidbrain3.37
3.04
Pms2MYMedulla6.37
6.49
Pms2OLFOlfactory bulb7.81
6.84
Pms2PPons5.69
5.71
Pms2PALPallidum2.29
1.99
Pms2RHPRetrohippocampal region3.97
3.18
Pms2sAMYStriatum-like amygdalar nuclei0.7
0.57
Pms2STRStriatum1.64
1.19
Pms2STRdStriatum dorsal region1.28
1.03
Pms2STRvStriatum ventral region3.61
2.1
Pms2THThalamus4.6
4.73
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00025869 15 652 666 ICPGENQAAEDELRK Peptide Atlas
PMS2_HUMAN_444 8 444 451 RSPLGQKR 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