Summary?
GeneID 54620
Symbol FBXL19
Synonyms CXXC11|Fbl19|JHDM1C
Description F-box and leucine-rich repeat protein 19
Reference MIM:609085|HGNC:HGNC:25300|Ensembl:ENSG00000099364|HPRD:12366|Vega:OTTHUMG00000132403
Gene type protein-coding
Map location 16p11.2
Pascal p-value 0.568
Sherlock p-value 0.536
Fetal beta -0.255
DMG 1 (# studies)
支持 CompositeSet
Darnell FMRP targets
Ascano FMRP targets

Gene in Data Sources
Gene set name Method of gene set Description Info
DMG:Jaffe_2016 Genome-wide DNA methylation analysis This 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_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). 2
认为:Fromer_2014 Whole Exome Sequencing analysis This study reported a WES study of 623 schizophrenia trios, reporting DNMs using genomic DNA.
GSMA_IIE Genome scan meta-analysis (European-ancestry samples) Psr: 0.01775

Section I. Genetics and epigenetics annotation

@认为table

Gene Chromosome Position Ref Alt Transcript AA change Mutation type Sift CG46 Trait Study
FBXL19 chr16 30958132 G A NM_001099784
NM_001271651
NR_073401
p.590R>H
p.547R>H
.
missense
missense
npcRNA
Schizophrenia 认为:Fromer_2014

@Differentially methylated gene

Probe Chromosome Position Nearest gene P (dis) Beta (dis) FDR (dis) Study
cg26666512 16 30934656 NCRNA00095;FBXL19 3.831E-4 -0.281 0.043 DMG:Wockner_2014
cg08535091 16 30934696 FBXL19 7.92E-9 -0.007 3.8E-6 DMG:Jaffe_2016


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: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 去的术语 Evidence Neuro keywords PubMed ID
GO:0003677 DNA binding IEA -
GO:0005515 protein binding IEA -
GO:0008270 zinc ion binding IEA -
GO:0046872 metal ion binding IEA -
Biological process 去的术语 Evidence Neuro keywords PubMed ID
GO:0006511 ubiquitin-dependent protein catabolic process IEA -

Section V. Pathway annotation

Pathway name Pathway size # SZGR 2.0 genes in pathway Info
GINESTIER BREAST CANCER ZNF217 AMPLIFIED DN 335 193 All SZGR 2.0 genes in this pathway
GINESTIER BREAST CANCER 20Q13 AMPLIFICATION DN 180 101 All SZGR 2.0 genes in this pathway
BENPORATH SOX2 TARGETS 734 436 All SZGR 2.0 genes in this pathway