Gene Page:SPG7

Summary?
GeneID 6687
Symbol SPG7
Synonyms CAR|CMAR|PGN|SPG5C
Description SPG7, paraplegin matrix AAA peptidase subunit
Reference MIM:602783|HGNC:HGNC:11237|Ensembl:ENSG00000197912|HPRD:04149|Vega:OTTHUMG00000138046
Gene type protein-coding
Map location 16q24.3
Pascal p-value 1.212E-4
Sherlock p-value 0.839
Fetal beta 0.258
DMG 1 (# studies)
eGene Anterior cingulate cortex BA24
Cortex
Frontal Cortex BA9
Hypothalamus
Myers' cis & trans
元

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
GO_Annotation Mapping neuro-related keywords to Gene Ontology annotations Hits with neuro-related keywords: 2

Section I. Genetics and epigenetics annotation

@Differentially methylated gene

Probe Chromosome Position Nearest gene P (dis) Beta (dis) FDR (dis) Study
cg04186815 16 89613903 SPG7 1.57E-4 0.386 0.032 DMG:Wockner_2014

@eQTL annotation

SNP ID Chromosome Position eGene Gene Entrez ID pvalue qvalue TSS distance eQTL type
rs12677942 chr8 31539941 SPG7 6687 0.2 trans
rs4785684 16 89574576 SPG7 ENSG00000197912.9 6.76826E-7 0 17251 gtex_brain_ba24
rs56289056 16 89581650 SPG7 ENSG00000197912.9 4.31022E-8 0 24325 gtex_brain_ba24
rs62070325 16 89583189 SPG7 ENSG00000197912.9 2.16393E-6 0 25864 gtex_brain_ba24

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
死神:胎儿(13 - 26 postconception我们eks), 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.

Top co-expressed genes in brain regions

Top 10 positively co-expressed genes
Gene Pearson's Correlation Spearman's Correlation
MRPL9 0.88 0.85
RPL26L1 0.88 0.87
PSMA7 0.88 0.90
ARL3 0.87 0.86
DIABLO 0.86 0.86
PSMB7 0.86 0.87
SARNP 0.86 0.85
EIF3G 0.86 0.85
ERH 0.85 0.84
PFDN2 0.85 0.80
Top 10 negatively co-expressed genes
Gene Pearson's Correlation Spearman's Correlation
AF347015.33 -0.63 -0.66
MT-CO2 -0.63 -0.61
MT-CYB -0.62 -0.65
AF347015.8 -0.62 -0.63
AF347015.2 -0.62 -0.65
AF347015.27 -0.61 -0.64
AF347015.15 -0.61 -0.65
AF347015.26 -0.61 -0.66
AF347015.31 -0.60 -0.61
AF347015.9 -0.58 -0.65

Section III. Gene Ontology annotation

Molecular function 去的术语 Evidence Neuro keywords PubMed ID
GO:0000166 nucleotide binding IEA -
GO:0003674 molecular_function ND -
GO:0005524 ATP binding IEA -
GO:0004222 metalloendopeptidase activity IDA 11549317
GO:0004222 metalloendopeptidase activity IEA -
GO:0008270 zinc ion binding IEA -
GO:0017111 nucleoside-triphosphatase activity IEA -
GO:0008233 peptidase activity TAS 9635427
GO:0051082 unfolded protein binding TAS 9635427
GO:0046872 metal ion binding IEA -
Biological process 去的术语 Evidence Neuro keywords PubMed ID
GO:0008089 anterograde axon cargo transport IEA axon (GO term level: 9) -
GO:0007399 nervous system development TAS neurite (GO term level: 5) 9635427
GO:0006508 proteolysis TAS 9635427
GO:0007165 signal transduction NAS 9405655
GO:0007005 mitochondrion organization IEA -
GO:0030155 regulation of cell adhesion NAS 9405655
GO:0030163 protein catabolic process IEA -
Cellular component 去的术语 Evidence Neuro keywords PubMed ID
GO:0005575 cellular_component ND -
GO:0005739 mitochondrion TAS 9635427
GO:0016020 membrane IEA -
GO:0016021 integral to membrane IEA -
GO:0031966 mitochondrial membrane 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
LIU CMYB TARGETS UP 165 106 All SZGR 2.0 genes in this pathway
RODRIGUES NTN1 TARGETS DN 158 102 All SZGR 2.0 genes in this pathway
WANG CLIM2 TARGETS UP 269 146 All SZGR 2.0 genes in this pathway
MULLIGHAN NPM1 MUTATED SIGNATURE 1 UP 276 165 All SZGR 2.0 genes in this pathway
MULLIGHAN NPM1 MUTATED SIGNATURE 2 UP 139 83 All SZGR 2.0 genes in this pathway
MULLIGHAN NPM1 SIGNATURE 3 UP 341 197 All SZGR 2.0 genes in this pathway
TIEN INTESTINE PROBIOTICS 24HR UP 557 331 All SZGR 2.0 genes in this pathway
DODD NASOPHARYNGEAL CARCINOMA UP 1821 933 All SZGR 2.0 genes in this pathway
ENK UV RESPONSE EPIDERMIS UP 293 179 All SZGR 2.0 genes in this pathway
BARRIER CANCER RELAPSE NORMAL SAMPLE DN 31 19 All SZGR 2.0 genes in this pathway
SPIELMAN LYMPHOBLAST EUROPEAN VS ASIAN UP 479 299 All SZGR 2.0 genes in this pathway
NUYTTEN EZH2 TARGETS DN 1024 594 All SZGR 2.0 genes in this pathway
NIKOLSKY BREAST CANCER 16Q24 AMPLICON 53 38 All SZGR 2.0 genes in this pathway
BAELDE DIABETIC NEPHROPATHY UP 86 48 All SZGR 2.0 genes in this pathway
BROWNE HCMV INFECTION 48HR DN 504 323 All SZGR 2.0 genes in this pathway
ZHENG BOUND BY FOXP3 491 310 All SZGR 2.0 genes in this pathway
GRATIAS RETINOBLASTOMA 16Q24 17 15 All SZGR 2.0 genes in this pathway
MOOTHA HUMAN MITODB 6 2002 429 260 All SZGR 2.0 genes in this pathway
MOOTHA MITOCHONDRIA 447 277 All SZGR 2.0 genes in this pathway
SENGUPTA EBNA1 ANTICORRELATED 173 85 All SZGR 2.0 genes in this pathway
MARTENS BOUND BY PML RARA FUSION 456 287 All SZGR 2.0 genes in this pathway
KRIEG HYPOXIA NOT VIA KDM3A 770 480 All SZGR 2.0 genes in this pathway