Summary?
GeneID 26277
Symbol TINF2
Synonyms DKCA3|TIN2
Description TERF1 (TRF1)-interacting nuclear factor 2
Reference MIM:604319|HGNC:HGNC:11824|Ensembl:ENSG00000092330|HPRD:16056|Vega:OTTHUMG00000171849
Gene type protein-coding
Map location 14q12
Pascal p-value 0.164
Sherlock p-value 0.334
TADA p-value 0.009
Fetal beta 0.327
eGene Myers' cis & trans
Support CompositeSet

Gene in Data Sources
Gene set name Method of gene set Description Info
CV:PGCnp Genome-wide Association Study GWAS
DNM:Fromer_2014 Whole Exome Sequencing analysis This study reported a WES study of 623 schizophrenia trios, reporting DNMs using genomic DNA.
GSMA_I Genome scan meta-analysis Psr: 0.047

Section I. Genetics and epigenetics annotation

@DNM table

Gene Chromosome Position Ref Alt Transcript AA change Mutation type Sift CG46 Trait Study
TINF2 chr14 24709311 A C NM_001099274
NM_012461
p.394L>V
.
missense
3-UTR
Schizophrenia DNM:Fromer_2014

@eQTL annotation

SNP ID Chromosome Position eGene Gene Entrez ID pvalue qvalue TSS distance eQTL type
rs1111763 chr14 25591536 TINF2 26277 0.09 cis

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.

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 TAS 10581025
GO:0005515 protein binding 新闻学会 12768206
GO:0042162 telomeric DNA binding IDA 12768206
Biological process 去的术语 Evidence Neuro keywords PubMed ID
GO:0007004 telomere maintenance via telomerase TAS 10581025
Cellular component 去的术语 Evidence Neuro keywords PubMed ID
GO:0000781 chromosome, telomeric region TAS 10581025
GO:0005634 nucleus IEA -
GO:0005654 nucleoplasm EXP 16166375
GO:0005694 chromosome IEA -

Section V. Pathway annotation

Pathway name Pathway size # SZGR 2.0 genes in pathway Info
PID TELOMERASE PATHWAY 68 48 All SZGR 2.0 genes in this pathway
REACTOME MEIOSIS 116 81 All SZGR 2.0 genes in this pathway
REACTOME CELL CYCLE 421 253 All SZGR 2.0 genes in this pathway
REACTOME CHROMOSOME MAINTENANCE 122 80 All SZGR 2.0 genes in this pathway
REACTOME MEIOTIC SYNAPSIS 73 57 All SZGR 2.0 genes in this pathway
REACTOME PACKAGING OF TELOMERE ENDS 48 40 All SZGR 2.0 genes in this pathway
REACTOME TELOMERE MAINTENANCE 75 57 All SZGR 2.0 genes in this pathway
PARENT MTOR SIGNALING UP 567 375 All SZGR 2.0 genes in this pathway
JAZAG TGFB1 SIGNALING UP 108 69 All SZGR 2.0 genes in this pathway
RICKMAN TUMOR DIFFERENTIATED WELL VS POORLY DN 382 224 All SZGR 2.0 genes in this pathway
考夫曼DNA修复基因 230 137 All SZGR 2.0 genes in this pathway
IVANOVA HEMATOPOIESIS STEM CELL LONG TERM 302 191 All SZGR 2.0 genes in this pathway
HU GENOTOXIN ACTION DIRECT VS INDIRECT 24HR 55 38 All SZGR 2.0 genes in this pathway
BILD MYC ONCOGENIC SIGNATURE 206 117 All SZGR 2.0 genes in this pathway
MARSON BOUND BY E2F4 UNSTIMULATED 728 415 All SZGR 2.0 genes in this pathway
ACEVEDO LIVER CANCER UP 973 570 All SZGR 2.0 genes in this pathway
ACEVEDO LIVER TUMOR VS NORMAL ADJACENT TISSUE UP 863 514 All SZGR 2.0 genes in this pathway
CONRAD STEM CELL 39 27 All SZGR 2.0 genes in this pathway
JOHNSTONE PARVB TARGETS 3 UP 430 288 All SZGR 2.0 genes in this pathway
BRUINS UVC RESPONSE EARLY LATE 317 190 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