Gene Page: LONP1
Summary ?
GeneID | 9361 |
Symbol | LONP1 |
Synonyms | CODASS|LON|LONP|LonHS|PIM1|PRSS15|hLON |
Description | lon peptidase 1, mitochondrial |
Reference | MIM:605490|HGNC:HGNC:9479|Ensembl:ENSG00000196365|HPRD:05689|Vega:OTTHUMG00000180504 |
Gene type | protein-coding |
Map location | 19p13.2 |
Pascal p-value | 0.113 |
Sherlock p-value | 0.407 |
Fetal beta | -0.392 |
eGene | Anterior cingulate cortex BA24 Caudate basal ganglia Cerebellar Hemisphere Cerebellum Cortex Hippocampus Nucleus accumbens basal ganglia Putamen basal ganglia Myers' cis & trans Meta |
Support | Ascano FMRP targets |
Gene in Data Sources
Gene set name | Method of gene set | Description | Info |
---|---|---|---|
CV:PGCnp | Genome-wide Association Study | GWAS | |
DMG:Wockner_2014 | Genome-wide DNA methylation analysis | This dataset includes 4641 differentially methylated probes corresponding to 2929 unique genes between schizophrenia patients (n=24) and controls (n=24). | 1 |
DNM:Fromer_2014 | Whole Exome Sequencing analysis | This study reported a WES study of 623 schizophrenia trios, reporting DNMs using genomic DNA. | |
GO_Annotation | Mapping neuro-related keywords to Gene Ontology annotations | Hits with neuro-related keywords: 1 |
Section I. Genetics and epigenetics annotation
DNM table
Gene | Chromosome | Position | Ref | Alt | Transcript | AA change | Mutation type | Sift | CG46 | Trait | Study |
---|---|---|---|---|---|---|---|---|---|---|---|
LONP1 | chr19 | 5696708 | C | A | NM_001276479 NM_001276480 NM_004793 NR_076392 | . . . . | silent silent silent npcRNA | Schizophrenia | DNM:Fromer_2014 |
Differentially methylated gene
Probe | Chromosome | Position | Nearest gene | P (dis) | Beta (dis) | FDR (dis) | Study |
---|---|---|---|---|---|---|---|
cg09964670 | 19 | 5720572 | TMEM146;LONP1 | 4.983E-4 | -0.18 | 0.047 | DMG:Wockner_2014 |
eQTL annotation
SNP ID | Chromosome | Position | eGene | Gene Entrez ID | pvalue | qvalue | TSS distance | eQTL type |
---|---|---|---|---|---|---|---|---|
rs11748625 | chr5 | 141184445 | LONP1 | 9361 | 0.13 | trans | ||
rs160436 | chr8 | 90681454 | LONP1 | 9361 | 0.01 | trans | ||
rs708691 | 19 | 5615670 | LONP1 | ENSG00000196365.7 | 1.37154E-6 | 0.01 | 104913 | gtex_brain_ba24 |
rs806707 | 19 | 5615734 | LONP1 | ENSG00000196365.7 | 1.10517E-6 | 0.01 | 104849 | gtex_brain_ba24 |
rs35832694 | 19 | 5684775 | LONP1 | ENSG00000196365.7 | 2.63504E-7 | 0.01 | 35808 | gtex_brain_ba24 |
rs3892355 | 19 | 5696962 | LONP1 | ENSG00000196365.7 | 3.98215E-8 | 0.01 | 23621 | gtex_brain_ba24 |
rs806707 | 19 | 5615734 | LONP1 | ENSG00000196365.7 | 7.86464E-7 | 0.02 | 104849 | gtex_brain_putamen_basal |
rs10424357 | 19 | 5672663 | LONP1 | ENSG00000196365.7 | 2.14026E-6 | 0.02 | 47920 | gtex_brain_putamen_basal |
Section II. Transcriptome annotation
General gene expression (GTEx)
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 III. Gene Ontology annotation
Molecular function | GO term | Evidence | Neuro keywords | PubMed ID |
---|---|---|---|---|
GO:0004252 | serine-type endopeptidase activity | IEA | glutamate (GO term level: 7) | - |
GO:0000166 | nucleotide binding | IEA | - | |
GO:0003677 | DNA binding | IEA | - | |
GO:0004176 | ATP-dependent peptidase activity | IEA | - | |
GO:0004176 | ATP-dependent peptidase activity | TAS | 8248235 | |
GO:0005524 | ATP binding | IEA | - | |
GO:0017111 | nucleoside-triphosphatase activity | IEA | - | |
GO:0008233 | peptidase activity | IEA | - | |
Biological process | GO term | Evidence | Neuro keywords | PubMed ID |
GO:0006510 | ATP-dependent proteolysis | IEA | - | |
GO:0006952 | defense response | IEA | - | |
Cellular component | GO term | Evidence | Neuro keywords | PubMed ID |
GO:0005737 | cytoplasm | IDA | 18029348 | |
GO:0005739 | mitochondrion | IEA | - | |
GO:0005739 | mitochondrion | TAS | 8248235 | |
GO:0005759 | mitochondrial matrix | IEA | - |
Section V. Pathway annotation
Pathway name | Pathway size | # SZGR 2.0 genes in pathway | Info |
---|---|---|---|
LIU SOX4 TARGETS DN | 309 | 191 | All SZGR 2.0 genes in this pathway |
UDAYAKUMAR MED1 TARGETS UP | 135 | 82 | All SZGR 2.0 genes in this pathway |
RODRIGUES THYROID CARCINOMA POORLY DIFFERENTIATED UP | 633 | 376 | All SZGR 2.0 genes in this pathway |
HU ANGIOGENESIS DN | 37 | 25 | All SZGR 2.0 genes in this pathway |
HEIDENBLAD AMPLICON 8Q24 UP | 40 | 23 | All SZGR 2.0 genes in this pathway |
WANG HCP PROSTATE CANCER | 111 | 69 | All SZGR 2.0 genes in this pathway |
MARCINIAK ER STRESS RESPONSE VIA CHOP | 25 | 17 | All SZGR 2.0 genes in this pathway |
LEE CALORIE RESTRICTION NEOCORTEX UP | 83 | 66 | All SZGR 2.0 genes in this pathway |
BLALOCK ALZHEIMERS DISEASE UP | 1691 | 1088 | All SZGR 2.0 genes in this pathway |
LEE AGING MUSCLE DN | 46 | 29 | All SZGR 2.0 genes in this pathway |
BURTON ADIPOGENESIS PEAK AT 2HR | 51 | 36 | All SZGR 2.0 genes in this pathway |
ZAMORA NOS2 TARGETS DN | 96 | 71 | All SZGR 2.0 genes in this pathway |
MONNIER POSTRADIATION TUMOR ESCAPE UP | 393 | 244 | All SZGR 2.0 genes in this pathway |
GAVIN FOXP3 TARGETS CLUSTER T7 | 98 | 63 | All SZGR 2.0 genes in this pathway |
YEGNASUBRAMANIAN PROSTATE CANCER | 128 | 60 | All SZGR 2.0 genes in this pathway |
HELLER HDAC TARGETS SILENCED BY METHYLATION DN | 281 | 179 | All SZGR 2.0 genes in this pathway |
WONG MITOCHONDRIA GENE MODULE | 217 | 122 | All SZGR 2.0 genes in this pathway |
ACEVEDO NORMAL TISSUE ADJACENT TO LIVER TUMOR DN | 354 | 216 | All SZGR 2.0 genes in this pathway |
ACEVEDO LIVER CANCER DN | 540 | 340 | All SZGR 2.0 genes in this pathway |
WINTER HYPOXIA METAGENE | 242 | 168 | All SZGR 2.0 genes in this pathway |
MOOTHA HUMAN MITODB 6 2002 | 429 | 260 | All SZGR 2.0 genes in this pathway |
MOOTHA PGC | 420 | 269 | All SZGR 2.0 genes in this pathway |
MOOTHA MITOCHONDRIA | 447 | 277 | All SZGR 2.0 genes in this pathway |
SHAFFER IRF4 TARGETS IN ACTIVATED B LYMPHOCYTE | 81 | 66 | All SZGR 2.0 genes in this pathway |
IRITANI MAD1 TARGETS DN | 47 | 30 | All SZGR 2.0 genes in this pathway |
HOSHIDA LIVER CANCER SUBCLASS S3 | 266 | 180 | All SZGR 2.0 genes in this pathway |
LU EZH2 TARGETS UP | 295 | 155 | All SZGR 2.0 genes in this pathway |
KRIEG HYPOXIA NOT VIA KDM3A | 770 | 480 | All SZGR 2.0 genes in this pathway |