Gene Page: PMS1

Summary ?
GeneID5378
SymbolPMS1
SynonymsHNPCC3|MLH2|PMSL1|hPMS1
DescriptionPMS1 homolog 1, mismatch repair system component
ReferenceMIM:600258|HGNC:HGNC:9121|Ensembl:ENSG00000064933|HPRD:02597|Vega:OTTHUMG00000132664
Gene typeprotein-coding
Map location2q31.1
Pascal p-value0.279
Sherlock p-value0.263
Fetal beta0.786
DMG2 (# studies)
eGeneMyers' cis & trans

Gene in Data Sources
Gene set name Method of gene setDescriptionInfo
CV:PGCnpGenome-wide Association StudyGWAS
DMG:Jaffe_2016Genome-wide DNA methylation analysisThis dataset includes 2,104 probes/CpGs associated with SZ patients (n=108) compared to 136 controls at Bonferroni-adjusted P < 0.05. 2
DMG:Wockner_2014Genome-wide DNA methylation analysisThis dataset includes 4641 differentially methylated probes corresponding to 2929 unique genes between schizophrenia patients (n=24) and controls (n=24). 2

Section I. Genetics and epigenetics annotation

@Differentially methylated gene

ProbeChromosomePositionNearest geneP (dis)Beta (dis)FDR (dis)Study
cg100811152190686883PMS15.854E-40.3390.05DMG:Wockner_2014
cg267082802190649305PMS13.05E-9-0.0262.09E-6DMG:Jaffe_2016

@eQTL annotation

SNP IDChromosomePositioneGeneGene Entrez IDpvalueqvalueTSS distanceeQTL type
rs11224047chr11134737682PMS153780.19trans

Section II. Transcriptome annotation

General gene expression (GTEx)

Not available

Gene expression during devlopment (BrainCloud)

Footnote:
A total of 269 time points ploted, with n=38 fetal samples (x=1:38). Each triangle represents one time point.

Gene expression of temporal and spatial changes (BrainSpan)

Footnote:
SC: sub-cortical regions; SM: sensory-motor regions; FC: frontal cortex; and TP: temporal-parietal cortex
ST1: fetal (13 - 26 postconception weeks), ST2: early infancy to late childhood (4 months to 11 years), and ST3: adolescence to adulthood (13 - 23 years)
The bar shown representes the lower 25% and upper 25% of the expression distribution.

No co-expressed genes in brain regions


Section V. Pathway annotation

Pathway namePathway size# SZGR 2.0 genes in pathwayInfo
SENGUPTA NASOPHARYNGEAL CARCINOMA UP 294178All SZGR 2.0 genes in this pathway
ZHONG RESPONSE TO AZACITIDINE AND TSA DN 7038All SZGR 2.0 genes in this pathway
DIAZ CHRONIC MEYLOGENOUS LEUKEMIA UP 1382904All SZGR 2.0 genes in this pathway
KIM WT1 TARGETS DN 459276All SZGR 2.0 genes in this pathway
DODD NASOPHARYNGEAL CARCINOMA DN 1375806All SZGR 2.0 genes in this pathway
RODRIGUES THYROID CARCINOMA POORLY DIFFERENTIATED UP 633376All SZGR 2.0 genes in this pathway
RODRIGUES THYROID CARCINOMA ANAPLASTIC UP 722443All SZGR 2.0 genes in this pathway
WAKASUGI HAVE ZNF143 BINDING SITES 5833All SZGR 2.0 genes in this pathway
MYLLYKANGAS AMPLIFICATION HOT SPOT 25 156All SZGR 2.0 genes in this pathway
DACOSTA UV RESPONSE VIA ERCC3 DN 855609All SZGR 2.0 genes in this pathway
DACOSTA UV RESPONSE VIA ERCC3 COMMON DN 483336All SZGR 2.0 genes in this pathway
PUJANA BRCA1 PCC NETWORK 16521023All SZGR 2.0 genes in this pathway
BUYTAERT PHOTODYNAMIC THERAPY STRESS DN 637377All SZGR 2.0 genes in this pathway
BENPORATH MYC MAX TARGETS 775494All SZGR 2.0 genes in this pathway
KAUFFMANN DNA REPAIR GENES 230137All SZGR 2.0 genes in this pathway
PEART HDAC PROLIFERATION CLUSTER DN 7657All SZGR 2.0 genes in this pathway
SASAKI ADULT T CELL LEUKEMIA 176122All SZGR 2.0 genes in this pathway
ZHAN MULTIPLE MYELOMA CD1 AND CD2 UP 8951All SZGR 2.0 genes in this pathway
YAGI AML SURVIVAL 12987All SZGR 2.0 genes in this pathway
SU TESTIS 7653All SZGR 2.0 genes in this pathway
DAZARD RESPONSE TO UV NHEK DN 318220All SZGR 2.0 genes in this pathway
DAZARD UV RESPONSE CLUSTER G6 153112All SZGR 2.0 genes in this pathway
MARSON BOUND BY FOXP3 STIMULATED 1022619All SZGR 2.0 genes in this pathway
RIGGINS TAMOXIFEN RESISTANCE DN 220147All SZGR 2.0 genes in this pathway
GRESHOCK CANCER COPY NUMBER UP 323240All SZGR 2.0 genes in this pathway
FOURNIER ACINAR DEVELOPMENT LATE 2 277172All SZGR 2.0 genes in this pathway
CAIRO HEPATOBLASTOMA UP 207143All SZGR 2.0 genes in this pathway
CAIRO HEPATOBLASTOMA CLASSES UP 605377All SZGR 2.0 genes in this pathway
DANG BOUND BY MYC 1103714All SZGR 2.0 genes in this pathway
WHITFIELD CELL CYCLE G1 S 14776All SZGR 2.0 genes in this pathway
CHICAS RB1 TARGETS SENESCENT 572352All SZGR 2.0 genes in this pathway
FEVR CTNNB1 TARGETS DN 553343All SZGR 2.0 genes in this pathway
SMIRNOV RESPONSE TO IR 2HR DN 5535All SZGR 2.0 genes in this pathway