Summary ?
GeneID9569
SymbolGTF2IRD1
SynonymsBEN|CREAM1|GTF3|MUSTRD1|RBAP2|WBS|WBSCR11|WBSCR12|hMusTRD1alpha1
DescriptionGTF2I repeat domain containing 1
ReferenceMIM:604318|HGNC:HGNC:4661|Ensembl:ENSG00000006704|HPRD:08379|Vega:OTTHUMG00000023782
Gene typeprotein-coding
Map location7q11.23
Pascal p-value0.166
Sherlock p-value0.089
Fetal beta1.72
DMG1 (# studies)
SupportAscano FMRP targets

Gene in Data Sources
Gene set name Method of gene setDescriptionInfo
CNV:YESCopy number variation studiesManual curation
CV:PGCnpGenome-wide Association StudyGWAS
DMG:Wockner_2014Genome-wide DNA methylation analysisThis dataset includes 4641 differentially methylated probes corresponding to 2929 unique genes between schizophrenia patients (n=24) and controls (n=24). 1
DNM:Ambalavanan_2016Whole Exome SequencingThis dataset includes 20 de novo mutations detected in 17 COS probands.
PMID:cooccurHigh-throughput literature-searchSystematic search in PubMed for genes co-occurring with SCZ keywords. A total of 3027 genes were included.
LiteratureHigh-throughput literature-searchCo-occurance with Schizophrenia keywords: schizophrenia,schizophreniasClick to show details

Section I. Genetics and epigenetics annotation

@DNM table

GeneChromosomePositionRefAltTranscriptAA changeMutation typeSiftCG46TraitStudy
GTF2IRD1chr773935594CTNM_001199207p.(Arg357Cys)nonsynonymous SNV1Childhood-onset schizophreniaDNM:Ambalavanan_2016

@Differentially methylated gene

ProbeChromosomePositionNearest geneP (dis)Beta (dis)FDR (dis)Study
cg14120784773867457GTF2IRD17.01E-50.6820.024DMG:Wockner_2014


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.

No co-expressed genes in brain regions


Section V. Pathway annotation

Pathway namePathway size# SZGR 2.0 genes in pathwayInfo
KEGG BASAL TRANSCRIPTION FACTORS 3624All SZGR 2.0 genes in this pathway
HOLLMANN APOPTOSIS VIA CD40 UP 201125All SZGR 2.0 genes in this pathway
LAIHO COLORECTAL CANCER SERRATED DN 8647All SZGR 2.0 genes in this pathway
KIM WT1 TARGETS UP 214155All SZGR 2.0 genes in this pathway
GRAESSMANN APOPTOSIS BY DOXORUBICIN DN 17811082All SZGR 2.0 genes in this pathway
GRAESSMANN RESPONSE TO MC AND DOXORUBICIN DN 770415All SZGR 2.0 genes in this pathway
BUYTAERT PHOTODYNAMIC THERAPY STRESS UP 811508All SZGR 2.0 genes in this pathway
MATSUDA NATURAL KILLER DIFFERENTIATION 475313All SZGR 2.0 genes in this pathway
MARIADASON REGULATED BY HISTONE ACETYLATION DN 5430All SZGR 2.0 genes in this pathway
MARTINEZ RB1 TARGETS DN 543317All SZGR 2.0 genes in this pathway
MARTINEZ TP53 TARGETS DN 593372All SZGR 2.0 genes in this pathway
MARTINEZ RB1 AND TP53 TARGETS DN 591366All SZGR 2.0 genes in this pathway
IWANAGA CARCINOGENESIS BY KRAS DN 12081All SZGR 2.0 genes in this pathway
GRADE COLON CANCER UP 871505All SZGR 2.0 genes in this pathway
SHAFFER IRF4 TARGETS IN ACTIVATED B LYMPHOCYTE 8166All SZGR 2.0 genes in this pathway
SHAFFER IRF4 TARGETS IN ACTIVATED DENDRITIC CELL 6549All SZGR 2.0 genes in this pathway
BHAT ESR1 TARGETS NOT VIA AKT1 DN 8861All SZGR 2.0 genes in this pathway
BHAT ESR1 TARGETS VIA AKT1 DN 8251All SZGR 2.0 genes in this pathway
BRUINS UVC RESPONSE VIA TP53 GROUP B 549316All SZGR 2.0 genes in this pathway
TORCHIA TARGETS OF EWSR1 FLI1 FUSION DN 321200All SZGR 2.0 genes in this pathway
KOINUMA TARGETS OF SMAD2 OR SMAD3 824528All SZGR 2.0 genes in this pathway
ZWANG TRANSIENTLY UP BY 1ST EGF PULSE ONLY 1839928All SZGR 2.0 genes in this pathway