Summary ?
GeneID10262
SymbolSF3B4
SynonymsAFD1|Hsh49|SAP49|SF3b49
Descriptionsplicing factor 3b subunit 4
ReferenceMIM:605593|HGNC:HGNC:10771|Ensembl:ENSG00000143368|HPRD:12028|Vega:OTTHUMG00000012208
Gene typeprotein-coding
Map location1q21.2
Sherlock p-value0.164
Fetal beta0.058
DMG1 (# studies)

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. 1
GSMA_IGenome scan meta-analysisPsr: 0.0235 
GSMA_IIAGenome scan meta-analysis (All samples)Psr: 0.00814 

Section I. Genetics and epigenetics annotation

@Differentially methylated gene

ProbeChromosomePositionNearest geneP (dis)Beta (dis)FDR (dis)Study
cg039524841149899818SF3B41.83E-10-0.0135.29E-7DMG: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
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.

Top co-expressed genes in brain regions

Top 10 positively co-expressed genes
GenePearson's Correlation Spearman's Correlation
SH3BP5L0.910.93
RNF400.910.93
LRRC470.910.93
PRCC0.910.93
FAM171A20.910.94
PIK3R20.910.93
STRN40.900.93
LASP10.900.93
TRIM460.900.94
YY10.890.92
Top 10 negatively co-expressed genes
GenePearson's Correlation Spearman's Correlation
MT-CO2-0.80-0.89
AF347015.31-0.79-0.87
AF347015.33-0.79-0.86
AF347015.27-0.78-0.87
MT-CYB-0.77-0.87
AF347015.8-0.76-0.87
S100B-0.75-0.82
FXYD1-0.74-0.82
COPZ2-0.74-0.80
HLA-F-0.74-0.76

Section III. Gene Ontology annotation

Molecular functionGO termEvidenceNeuro keywordsPubMed ID
GO:0000166nucleotide bindingIEA-
GO:0003676nucleic acid bindingIEA-
GO:0003723RNA bindingIEA-
GO:0005515protein bindingIPI14667819 
GO:0031202RNA splicing factor activity, transesterification mechanismTAS7958871 
Biological processGO termEvidenceNeuro keywordsPubMed ID
GO:0000398nuclear mRNA splicing, via spliceosomeEXP12226669 
GO:0000398nuclear mRNA splicing, via spliceosomeIC9731529 
GO:0008380RNA splicingTAS7958871 
Cellular componentGO termEvidenceNeuro keywordsPubMed ID
GO:0005634nucleusIEA-
GO:0005681spliceosomeIDA9731529 

Section IV. Protein-protein interaction annotation

InteractorsAliases BOfficial full name BExperimentalSourcePubMed ID
BMPR1A10q23del | ACVRLK3 | ALK3 | CD292bone morphogenetic protein receptor, type IA-HPRD,BioGRID15351706 
FAM115AKIAA0738family with sequence similarity 115, member ATwo-hybridBioGRID16189514 
MAPK9JNK-55 | JNK2 | JNK2A | JNK2ALPHA | JNK2B | JNK2BETA | PRKM9 | SAPK | p54a | p54aSAPKmitogen-activated protein kinase 9Two-hybridBioGRID16189514 
NCK2GRB4 | NCKbetaNCK adaptor protein 2Two-hybridBioGRID16189514 
PHF5AINI | MGC1346 | SF3b14b | bK223H9.2PHD finger protein 5A-HPRD12234937 
RNU11U11RNA, U11 small nuclearAffinity Capture-MSBioGRID15146077 
RNU12U12RNA, U12 small nuclearAffinity Capture-MSBioGRID15146077 
SF3A2PRP11 | PRPF11 | SAP62 | SF3a66splicing factor 3a, subunit 2, 66kDaAffinity Capture-MSBioGRID12234937 
SF3B1PRP10 | PRPF10 | SAP155 | SF3b155splicing factor 3b, subunit 1, 155kDaAffinity Capture-MSBioGRID12234937 
SF3B14CGI-110 | HSPC175 | Ht006 | P14 | SAP14 | SF3B14asplicing factor 3B, 14 kDa subunit-HPRD12234937 |12738865 
SF3B2SAP145 | SF3B145 | SF3b1 | SF3b150splicing factor 3b, subunit 2, 145kDaSAP145 interacts with SAP49.BIND7958871 
SF3B2SAP145 | SF3B145 | SF3b1 | SF3b150splicing factor 3b, subunit 2, 145kDain vivo
Two-hybrid
BioGRID7958871 |16189514 
SF3B2SAP145 | SF3B145 | SF3b1 | SF3b150splicing factor 3b, subunit 2, 145kDa-HPRD7958871 |10490618 
SMNDC1SMNR | SPF30survival motor neuron domain containing 1Affinity Capture-MSBioGRID17353931 
SS18L1CREST | KIAA0693 | LP2261 | MGC26711 | MGC78386synovial sarcoma translocation gene on chromosome 18-like 1Two-hybridBioGRID16189514 
STK19D6S60 | D6S60E | G11 | HLA-RP1 | MGC117388 | RP1serine/threonine kinase 19-HPRD14667819 
TCERG1CA150 | MGC133200 | TAF2Stranscription elongation regulator 1-HPRD,BioGRID15456888 


Section V. Pathway annotation

Pathway namePathway size# SZGR 2.0 genes in pathwayInfo
KEGG SPLICEOSOME 12872All SZGR 2.0 genes in this pathway
REACTOME PROCESSING OF CAPPED INTRON CONTAINING PRE MRNA 14077All SZGR 2.0 genes in this pathway
REACTOME MRNA PROCESSING 16186All SZGR 2.0 genes in this pathway
REACTOME MRNA SPLICING 11158All SZGR 2.0 genes in this pathway
REACTOME MRNA SPLICING MINOR PATHWAY 4519All SZGR 2.0 genes in this pathway
DIAZ CHRONIC MEYLOGENOUS LEUKEMIA UP 1382904All SZGR 2.0 genes in this pathway
DODD NASOPHARYNGEAL CARCINOMA DN 1375806All SZGR 2.0 genes in this pathway
ENK UV RESPONSE KERATINOCYTE UP 530342All SZGR 2.0 genes in this pathway
PATIL LIVER CANCER 747453All SZGR 2.0 genes in this pathway
PUJANA BRCA1 PCC NETWORK 16521023All SZGR 2.0 genes in this pathway
PUJANA ATM PCC NETWORK 1442892All SZGR 2.0 genes in this pathway
PENG LEUCINE DEPRIVATION DN 187122All SZGR 2.0 genes in this pathway
FLECHNER PBL KIDNEY TRANSPLANT OK VS DONOR UP 151100All SZGR 2.0 genes in this pathway
PENG GLUTAMINE DEPRIVATION DN 337230All SZGR 2.0 genes in this pathway
LENAOUR DENDRITIC CELL MATURATION DN 12890All SZGR 2.0 genes in this pathway
JAZAERI BREAST CANCER BRCA1 VS BRCA2 UP 4928All SZGR 2.0 genes in this pathway
DOUGLAS BMI1 TARGETS UP 566371All SZGR 2.0 genes in this pathway
ACEVEDO LIVER TUMOR VS NORMAL ADJACENT TISSUE UP 863514All SZGR 2.0 genes in this pathway
ZHANG BREAST CANCER PROGENITORS DN 14593All SZGR 2.0 genes in this pathway
KIM BIPOLAR DISORDER OLIGODENDROCYTE DENSITY CORR UP 682440All SZGR 2.0 genes in this pathway
RAO BOUND BY SALL4 227149All SZGR 2.0 genes in this pathway

Section VI. microRNA annotation

miRNA familyTarget positionmiRNA IDmiRNA seq
UTR startUTR endMatch method
miR-13354601Ahsa-miR-133aUUGGUCCCCUUCAACCAGCUGU
hsa-miR-133bUUGGUCCCCUUCAACCAGCUA