|
||||||
|
 | |
| |
| |
| |
| Open reading frame (ORF) annotation in the exon skipping event |
| |
| |
| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
| |
|
Gene summary for TINF2 |
 Gene summary |
| Gene information | Gene symbol | TINF2 | Gene ID | 26277 |
| Gene name | TERF1 interacting nuclear factor 2 | |
| Synonyms | DKCA3|TIN2 | |
| Cytomap | 14q12 | |
| Type of gene | protein-coding | |
| Description | TERF1-interacting nuclear factor 2TERF1 (TRF1)-interacting nuclear factor 2TRF1-interacting nuclear protein 2 | |
| Modification date | 20180529 | |
| UniProtAcc | Q9BSI4 | |
| Context | PubMed: TINF2 [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract] - Title (PMID) |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| TINF2 | GO:0010836 | negative regulation of protein ADP-ribosylation | 15133513 |
Top |
Exon skipping events across known transcript of Ensembl for TINF2 from UCSC genome browser |
| Skipped exons in TCGA and GTEx based on Ensembl gene isoform structure. * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
 |
Top |
Gene isoform structures and expression levels for TINF2 |
| Expression levels of gene isoforms across TCGA. |
 |
| Expression levels of gene isoforms across GTEx. |
 |
Top |
Exon skipping events with PSIs in TCGA for TINF2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_111978 | 14 | 24709884:24710081:24710225:24710322:24710409:24710517 | 24710225:24710322 | ENSG00000092330.11 | ENST00000559969.1,ENST00000558476.1,ENST00000267415.7,ENST00000559549.1,ENST00000540705.1,ENST00000399423.4 |
| exon_skip_111990 | 14 | 24710225:24710322:24710409:24710517:24710880:24710982 | 24710409:24710517 | ENSG00000092330.11 | ENST00000559969.1,ENST00000558476.1,ENST00000267415.7,ENST00000540705.1,ENST00000399423.4 |
| exon_skip_111995 | 14 | 24710409:24710517:24710880:24710982:24711095:24711127 | 24710880:24710982 | ENSG00000092330.11 | ENST00000559969.1,ENST00000558476.1,ENST00000267415.7,ENST00000559147.1,ENST00000399423.4 |
| exon_skip_111996 | 14 | 24710409:24710517:24710880:24710982:24711346:24711494 | 24710880:24710982 | ENSG00000092330.11 | ENST00000540705.1 |
| exon_skip_112001 | 14 | 24710935:24710982:24711095:24711127:24711346:24711494 | 24711095:24711127 | ENSG00000092330.11 | ENST00000558510.1 |
| exon_skip_112002 | 14 | 24710935:24710982:24711095:24711200:24711346:24711494 | 24711095:24711200 | ENSG00000092330.11 | ENST00000559969.1,ENST00000538777.1,ENST00000267415.7,ENST00000558566.1,ENST00000559147.1,ENST00000399423.4 |
| PSI values of skipped exons in TCGA. |
 |
Top |
Exon skipping events with PSIs in GTEx for TINF2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_111978 | 14 | 24709884:24710081:24710225:24710322:24710409:24710517 | 24710225:24710322 | ENSG00000092330.11 | ENST00000399423.4,ENST00000267415.7,ENST00000540705.1,ENST00000559969.1,ENST00000559549.1,ENST00000558476.1 |
| exon_skip_111990 | 14 | 24710225:24710322:24710409:24710517:24710880:24710982 | 24710409:24710517 | ENSG00000092330.11 | ENST00000399423.4,ENST00000267415.7,ENST00000540705.1,ENST00000559969.1,ENST00000558476.1 |
| exon_skip_111995 | 14 | 24710409:24710517:24710880:24710982:24711095:24711127 | 24710880:24710982 | ENSG00000092330.11 | ENST00000399423.4,ENST00000267415.7,ENST00000559969.1,ENST00000558476.1,ENST00000559147.1 |
| exon_skip_111996 | 14 | 24710409:24710517:24710880:24710982:24711346:24711494 | 24710880:24710982 | ENSG00000092330.11 | ENST00000540705.1 |
| exon_skip_112001 | 14 | 24710935:24710982:24711095:24711127:24711346:24711494 | 24711095:24711127 | ENSG00000092330.11 | ENST00000558510.1 |
| exon_skip_112002 | 14 | 24710935:24710982:24711095:24711200:24711346:24711494 | 24711095:24711200 | ENSG00000092330.11 | ENST00000399423.4,ENST00000267415.7,ENST00000559969.1,ENST00000558566.1,ENST00000538777.1,ENST00000559147.1 |
| PSI values of skipped exons in GTEx. |
 |
| * Skipped exon sequences. |
Top |
Open reading frame (ORF) annotation in the exon skipping event for TINF2 |
| Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
Top |
Infer the effects of exon skipping event on protein functional features for TINF2 |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
 |
| Loci of skipped exons in TCGA across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| Loci of skipped exons in GTEx across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| Lost protein functional features of individual exon skipping events in TCGA. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| Lost protein functional features of individual exon skipping events in GTEx. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
Top |
SNVs in the skipped exons for TINF2 |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
 |
| - Differential PSIs between mutated versus non-mutated samples. |
| - Non-synonymous mutations located in the skipped exons in TCGA. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| COAD | TCGA-A6-5661-01 | exon_skip_111978 | 24710226 | 24710322 | 24710284 | 24710285 | Frame_Shift_Del | AG | - | p.182_183del |
| STAD | TCGA-BR-8078-01 | exon_skip_111995 exon_skip_111996 | 24710881 | 24710982 | 24710896 | 24710897 | Frame_Shift_Ins | - | A | p.L128fs |
| STAD | TCGA-BR-8078-01 | exon_skip_111995 exon_skip_111996 | 24710881 | 24710982 | 24710897 | 24710898 | Frame_Shift_Ins | - | A | p.L128fs |
| HNSC | TCGA-CV-5442-01 | exon_skip_111978 | 24710226 | 24710322 | 24710319 | 24710319 | Nonsense_Mutation | G | A | p.Q171* |
| BLCA | TCGA-LT-A5Z6-01 | exon_skip_111990 | 24710410 | 24710517 | 24710511 | 24710511 | Nonsense_Mutation | C | A | p.E136* |
| UCEC | TCGA-AP-A059-01 | exon_skip_111978 | 24710226 | 24710322 | 24710323 | 24710323 | Splice_Site | C | A | e5-1 |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
| - Non-synonymous mutations located in the skipped exons in CCLE. |
| Sample | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| CW2_LARGE_INTESTINE | 24710410 | 24710517 | 24710471 | 24710471 | Frame_Shift_Del | T | - | p.K149fs |
| KMBC2_URINARY_TRACT | 24710226 | 24710322 | 24710263 | 24710263 | Missense_Mutation | C | G | p.W189C |
| HCC1428_BREAST | 24710226 | 24710322 | 24710310 | 24710310 | Missense_Mutation | G | T | p.L174M |
| HEC59_ENDOMETRIUM | 24710410 | 24710517 | 24710426 | 24710426 | Missense_Mutation | G | A | p.T164I |
| NCIH322_LUNG | 24710410 | 24710517 | 24710441 | 24710441 | Missense_Mutation | T | A | p.E159V |
| LC1F_LUNG | 24710410 | 24710517 | 24710490 | 24710490 | Missense_Mutation | A | G | p.F143L |
| LC1SQSF_LUNG | 24710410 | 24710517 | 24710490 | 24710490 | Missense_Mutation | A | G | p.F143L |
| LC1SQ_LUNG | 24710410 | 24710517 | 24710490 | 24710490 | Missense_Mutation | A | G | p.F143L |
| IM95_STOMACH | 24711096 | 24711200 | 24711106 | 24711106 | Missense_Mutation | T | C | p.D96G |
| IM95_STOMACH | 24711096 | 24711127 | 24711106 | 24711106 | Missense_Mutation | T | C | p.D96G |
| DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 24711096 | 24711200 | 24711110 | 24711110 | Missense_Mutation | G | A | p.R95W |
| DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 24711096 | 24711127 | 24711110 | 24711110 | Missense_Mutation | G | A | p.R95W |
| HUTU80_SMALL_INTESTINE | 24711096 | 24711200 | 24711118 | 24711118 | Missense_Mutation | G | C | p.P92R |
| HUTU80_SMALL_INTESTINE | 24711096 | 24711127 | 24711118 | 24711118 | Missense_Mutation | G | C | p.P92R |
| SW1088_CENTRAL_NERVOUS_SYSTEM | 24710881 | 24710982 | 24710881 | 24710881 | Splice_Site | C | G | p.Q133H |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for TINF2 |
| sQTL information located at the skipped exons. |
| Exon skip ID | Chromosome | Three exons | Skippped exon | ENST | Cancer type | SNP id | Location | DNA change (ref/var) | P-value |
Top |
Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TINF2 |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TINF2 |
Top |
RelatedDrugs for TINF2 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Top |
RelatedDiseases for TINF2 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| TINF2 | C0005956 | Bone Marrow Diseases | 1 | CTD_human |
| TINF2 | C0007760 | Cerebellar Diseases | 1 | CTD_human |
| TINF2 | C0018273 | Growth Disorders | 1 | CTD_human |
| TINF2 | C0027339 | Nail Diseases | 1 | CTD_human |
| TINF2 | C0265965 | Dyskeratosis Congenita | 1 | CTD_human;ORPHANET |
| TINF2 | C1327916 | REVESZ SYNDROME (disorder) | 1 | CTD_human;ORPHANET;UNIPROT |
| TINF2 | C3151445 | DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 3 | 1 | UNIPROT |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|