Gene Page:EXTL3

Summary?
GeneID 2137
Symbol EXTL3
Synonyms BOTV|EXTL1L|EXTR1|REGR|RPR
Description exostosin like glycosyltransferase 3
Reference MIM:605744|HGNC: HGNC: 3518|Ensembl:ENSG00000012232|HPRD:09306|Vega:OTTHUMG00000102146
Gene type protein-coding
Map location 8p21
Pascal p-value 0.574
Sherlock p-value 0.988
Fetal beta -0.007
DMG 1 (# studies)
eGene Myers' cis & trans
Support CompositeSet
Darnell FMRP targets
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
GSMA_IIA Genome scan meta-analysis (All samples) Psr: 0.03086
GSMA_IIE Genome scan meta-analysis (European-ancestry samples) Psr: 0.00057

Section I. Genetics and epigenetics annotation

@Differentially methylated gene

Probe Chromosome Position Nearest gene P (dis) Beta (dis) FDR (dis) Study
cg06012410 8 28567012 EXTL3 4.876E-4 0.51 0.047 DMG:Wockner_2014

@eQTL annotation

SNP ID Chromosome Position eGene Gene Entrez ID pvalue qvalue TSS distance eQTL type
rs17795337 chr6 136492658 EXTL3 2137 0.09 trans

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 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.

Top co-expressed genes in brain regions

Top 10 positively co-expressed genes
Gene Pearson's Correlation Spearman's Correlation
ATP13A4 0.90 0.90
MERTK 0.89 0.84
SLC13A5 0.88 0.85
ATP1B2 0.88 0.84
ACSBG1 0.88 0.84
ATP1A2 0.88 0.85
FAM167A 0.87 0.80
ADHFE1 0.87 0.83
SFXN5 0.86 0.82
ACSS1 0.86 0.82
Top 10 negatively co-expressed genes
Gene Pearson's Correlation Spearman's Correlation
MED19 -0.56 -0.60
RAB33A -0.55 -0.63
MLLT11 -0.54 -0.57
C6orf168 -0.53 -0.54
SPATS2 -0.53 -0.56
DCTPP1 -0.53 -0.61
CIAPIN1 -0.53 -0.56
PREP -0.53 -0.54
MTHFD1L -0.52 -0.57
MAD2L1BP -0.52 -0.59

Section III. Gene Ontology annotation

Molecular function 去的术语 Evidence Neuro keywords PubMed ID
GO:0001888 glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity IEA -
GO:0016757 transferase activity, transferring glycosyl groups IEA -
GO:0030145 manganese ion binding IEA -
GO:0046872 metal ion binding IEA -
Cellular component 去的术语 Evidence Neuro keywords PubMed ID
GO:0005789 endoplasmic reticulum membrane IEA -
GO:0005783 endoplasmic reticulum IEA -
GO:0016020 membrane IEA -
GO:0016021 integral to membrane IEA -

Section V. Pathway annotation

Pathway name Pathway size # SZGR 2.0 genes in pathway Info
KEGG GLYCOSAMINOGLYCAN BIOSYNTHESIS HEPARAN SULFATE 26 16 All SZGR 2.0 genes in this pathway
REACTOME DIABETES PATHWAYS 133 91 All SZGR 2.0 genes in this pathway
REACTOME ACTIVATION OF CHAPERONE GENES BY XBP1S 46 34 All SZGR 2.0 genes in this pathway
REACTOME UNFOLDED PROTEIN RESPONSE 80 51 All SZGR 2.0 genes in this pathway
SENESE HDAC1 TARGETS UP 457 269 All SZGR 2.0 genes in this pathway
SENESE HDAC1 AND HDAC2 TARGETS UP 238 144 All SZGR 2.0 genes in this pathway
SENESE HDAC3 TARGETS UP 501 327 All SZGR 2.0 genes in this pathway
KIM WT1 TARGETS 8HR DN 129 84 All SZGR 2.0 genes in this pathway
ENK UV RESPONSE KERATINOCYTE DN 485 334 All SZGR 2.0 genes in this pathway
LINDGREN BLADDER CANCER CLUSTER 3 DN 229 142 All SZGR 2.0 genes in this pathway
MCBRYAN PUBERTAL BREAST 4 5WK DN 196 131 All SZGR 2.0 genes in this pathway
MCBRYAN PUBERTAL BREAST 6 7WK UP 197 135 All SZGR 2.0 genes in this pathway
MCBRYAN PUBERTAL TGFB1 TARGETS UP 169 127 All SZGR 2.0 genes in this pathway
PATIL LIVER CANCER 747 453 All SZGR 2.0 genes in this pathway
BYSTRYKH HEMATOPOIESIS STEM CELL QTL TRANS 882 572 All SZGR 2.0 genes in this pathway
PENG RAPAMYCIN RESPONSE DN 245 154 All SZGR 2.0 genes in this pathway
KUMAR TARGETS OF MLL AF9 FUSION 405 264 All SZGR 2.0 genes in this pathway
BURTON ADIPOGENESIS 5 126 78 All SZGR 2.0 genes in this pathway
MARTINEZ RB1 TARGETS UP 673 430 All SZGR 2.0 genes in this pathway
MARTINEZ TP53 TARGETS DN 593 372 All SZGR 2.0 genes in this pathway
MARTINEZ RB1 AND TP53 TARGETS DN 591 366 All SZGR 2.0 genes in this pathway
AGUIRRE PANCREATIC CANCER COPY NUMBER DN 238 145 All SZGR 2.0 genes in this pathway
ZHANG TLX TARGETS 36HR UP 221 150 All SZGR 2.0 genes in this pathway
ZEMBUTSU SENSITIVITY TO NIMUSTINE 17 13 All SZGR 2.0 genes in this pathway
NIELSEN GIST 98 66 All SZGR 2.0 genes in this pathway
VERHAAK GLIOBLASTOMA CLASSICAL 162 122 All SZGR 2.0 genes in this pathway
LEE BMP2 TARGETS UP 745 475 All SZGR 2.0 genes in this pathway

Section VI. microRNA annotation

miRNA family Target position miRNA ID miRNA seq
UTR start UTR end Match method
miR-124.1 1541 1548 1A,m8 hsa-miR-124a UUAAGGCACGCGGUGAAUGCCA
miR-124/506 1541 1547 1A hsa-miR-506 UAAGGCACCCUUCUGAGUAGA
hsa-miR-124brain UAAGGCACGCGGUGAAUGCC
miR-136 2803 2810 1A,m8 hsa-miR-136 ACUCCAUUUGUUUUGAUGAUGGA
miR-218 2759 2765 1A hsa-miR-218brain UUGUGCUUGAUCUAACCAUGU
miR-9 1935 1941 1A hsa-miR-9SZ UCUUUGGUUAUCUAGCUGUAUGA