Gene Page:TBX1

Summary?
GeneID 6899
Symbol TBX1
Synonyms CAFS|CATCH22|CTHM|DGCR|DGS|DORV|TBX1C|TGA|VCF|VCFS
Description T-box 1
Reference MIM:602054|HGNC:HGNC:11592|Ensembl:ENSG00000184058|HPRD:09069|Vega:OTTHUMG00000150421
Gene type protein-coding
Map location 22q11.21
Pascal p-value 0.177
Fetal beta -0.747

Gene in Data Sources
Gene set name Method of gene set Description Info
CNV:YES Copy number variation studies Manual curation
CV:GWASdb Genome-wide Association Studies GWASdb records for schizophrenia
CV:PGCnp Genome-wide Association Study GWAS
PMID:cooccur High-throughput literature-search 系统搜索PubMed co-o基因ccurring with SCZ keywords. A total of 3027 genes were included.
Association A combined odds ratio method (Sun et al. 2008), association studies 2 Link to SZGene
GSMA_I Genome scan meta-analysis Psr: 0.031
Literature High-throughput literature-search Co-occurance with Schizophrenia keywords: schizophrenia,schizophrenic,schizophrenics,schizophrenias Click to show details

Section I. Genetics and epigenetics annotation


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
Gene Pearson's Correlation Spearman's Correlation
C4orf48 0.55 0.52
MRPS26 0.53 0.44
ALDH16A1 0.52 0.44
NME4 0.52 0.49
NOSIP 0.52 0.42
ZNF787 0.52 0.48
AC018648.1 0.51 0.50
HSD17B10 0.51 0.39
MRPS34 0.51 0.39
C6orf226 0.51 0.42
Top 10 negatively co-expressed genes
Gene Pearson's Correlation Spearman's Correlation
UGP2 -0.28 -0.29
AKTIP -0.27 -0.30
GALNTL5 -0.27 -0.28
CHN1 -0.27 -0.21
FRG1B -0.27 -0.32
EFR3A -0.26 -0.29
ZNF365 -0.26 -0.26
OSBPL1A -0.26 -0.25
VSNL1 -0.26 -0.19
ELL2 -0.26 -0.26

Section III. Gene Ontology annotation

Molecular function 去的术语 Evidence Neuro keywords PubMed ID
GO:0003700 transcription factor activity IDA 11111039
GO:0003702 RNA polymerase II transcription factor activity NAS 9268629
GO:0042803 protein homodimerization activity IDA 11111039
GO:0043565 sequence-specific DNA binding IDA 11111039
Biological process 去的术语 Evidence Neuro keywords PubMed ID
GO:0006357 regulation of transcription from RNA polymerase II promoter NAS 9268629
GO:0007507 heart development IMP 14585638
GO:0060037 pharyngeal system development IMP 14585638
GO:0060017 parathyroid gland development IMP 14585638
GO:0048703 embryonic viscerocranium morphogenesis IMP 14585638
GO:0048538 thymus development IMP 14585638
GO:0060023 soft palate development IMP 14585638
Cellular component 去的术语 Evidence Neuro keywords PubMed ID
GO:0005634 nucleus IDA 15703190

Section V. Pathway annotation

Pathway name Pathway size # SZGR 2.0 genes in pathway Info
GARGALOVIC RESPONSE TO OXIDIZED PHOSPHOLIPIDS GREY DN 74 44 All SZGR 2.0 genes in this pathway
PUJANA BRCA1 PCC NETWORK 1652 1023 All SZGR 2.0 genes in this pathway
SCHLESINGER METHYLATED DE NOVO IN CANCER 88 64 All SZGR 2.0 genes in this pathway
BENPORATH SUZ12 TARGETS 1038 678 All SZGR 2.0 genes in this pathway
BENPORATH EED TARGETS 1062 725 All SZGR 2.0 genes in this pathway
BENPORATH ES WITH H3K27ME3 1118 744 All SZGR 2.0 genes in this pathway
BENPORATH PRC2 TARGETS 652 441 All SZGR 2.0 genes in this pathway
PETROVA ENDOTHELIUM LYMPHATIC VS BLOOD UP 131 87 All SZGR 2.0 genes in this pathway
KAAB HEART ATRIUM VS VENTRICLE DN 261 183 All SZGR 2.0 genes in this pathway
BRUNEAU SEPTATION VENTRICULAR 10 8 All SZGR 2.0 genes in this pathway
BRUNEAU HEART GREAT VESSELS AND VALVULOGENESIS 8 8 All SZGR 2.0 genes in this pathway
COLINA TARGETS OF 4EBP1 AND 4EBP2 356 214 All SZGR 2.0 genes in this pathway
MEISSNER BRAIN HCP WITH H3K27ME3 269 159 All SZGR 2.0 genes in this pathway
YAGI AML WITH 11Q23 REARRANGED 351 238 All SZGR 2.0 genes in this pathway
MEISSNER NPC HCP WITH H3K4ME2 AND H3K27ME3 349 234 All SZGR 2.0 genes in this pathway
KESHELAVA MULTIPLE DRUG RESISTANCE 88 56 All SZGR 2.0 genes in this pathway
WONG ADULT TISSUE STEM MODULE 721 492 All SZGR 2.0 genes in this pathway
PURBEY TARGETS OF CTBP1 NOT SATB1 DN 448 282 All SZGR 2.0 genes in this pathway
ZWANG TRANSIENTLY UP BY 2ND EGF PULSE ONLY 1725 838 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-101 413 419 1A hsa-miR-101 UACAGUACUGUGAUAACUGAAG
miR-139 414 421 1A,m8 hsa-miR-139brain UCUACAGUGCACGUGUCU
miR-144 412 419 1A,m8 hsa-miR-144 UACAGUAUAGAUGAUGUACUAG
miR-182 266 272 1A hsa-miR-182 UUUGGCAAUGGUAGAACUCACA
miR-96 265 272 1A,m8 hsa-miR-96brain UUUGGCACUAGCACAUUUUUGC