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| Open reading frame (ORF) annotation in the exon skipping event |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
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Gene summary for TIAL1 |
 Gene summary |
| Gene information | Gene symbol | TIAL1 | Gene ID | 7073 |
| Gene name | TIA1 cytotoxic granule associated RNA binding protein like 1 | |
| Synonyms | TCBP|TIAR | |
| Cytomap | 10q26.11 | |
| Type of gene | protein-coding | |
| Description | nucleolysin TIART-cluster binding proteinTIA-1-related nucleolysinaging-associated gene 7 protein | |
| Modification date | 20180519 | |
| UniProtAcc | Q01085 | |
| Context | PubMed: TIAL1 [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 |
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Exon skipping events across known transcript of Ensembl for TIAL1 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. |
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Gene isoform structures and expression levels for TIAL1 |
| Expression levels of gene isoforms across TCGA. |
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| Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for TIAL1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_54410 | 10 | 121336122:121336262:121336358:121336417:121336591:121336715 | 121336358:121336417 | ENSG00000151923.13 | ENST00000463089.2 |
| exon_skip_54411 | 10 | 121336986:121337047:121337152:121337248:121338237:121338346 | 121337152:121337248 | ENSG00000151923.13 | ENST00000369092.4,ENST00000489822.1,ENST00000369093.2,ENST00000436547.2,ENST00000470781.1,ENST00000497671.1,ENST00000369087.1,ENST00000495821.1 |
| exon_skip_54414 | 10 | 121339446:121339522:121339982:121340050:121341433:121341521 | 121339982:121340050 | ENSG00000151923.13 | ENST00000470635.1 |
| exon_skip_54416 | 10 | 121339446:121339522:121339982:121340358:121341433:121341521 | 121339982:121340358 | ENSG00000151923.13 | ENST00000369092.4,ENST00000497671.1 |
| exon_skip_54425 | 10 | 121341680:121341735:121341970:121342069:121347663:121347722 | 121341970:121342069 | ENSG00000151923.13 | ENST00000412524.1,ENST00000369092.4,ENST00000489822.1,ENST00000436547.2,ENST00000470781.1,ENST00000497671.1,ENST00000369086.1 |
| exon_skip_54426 | 10 | 121341680:121341735:121341970:121342120:121347663:121347722 | 121341970:121342120 | ENSG00000151923.13 | ENST00000369093.2 |
| exon_skip_54427 | 10 | 121341970:121342069:121347663:121347760:121355945:121356007 | 121347663:121347760 | ENSG00000151923.13 | ENST00000369092.4,ENST00000489822.1,ENST00000436547.2,ENST00000497671.1 |
| exon_skip_54432 | 10 | 121347678:121347760:121351766:121351808:121352963:121353006 | 121351766:121351808 | ENSG00000151923.13 | ENST00000462373.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for TIAL1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_54410 | 10 | 121336122:121336262:121336358:121336417:121336591:121336715 | 121336358:121336417 | ENSG00000151923.13 | ENST00000463089.2 |
| exon_skip_54411 | 10 | 121336986:121337047:121337152:121337248:121338237:121338346 | 121337152:121337248 | ENSG00000151923.13 | ENST00000369093.2,ENST00000489822.1,ENST00000497671.1,ENST00000369092.4,ENST00000470781.1,ENST00000436547.2,ENST00000369087.1,ENST00000495821.1 |
| exon_skip_54414 | 10 | 121339446:121339522:121339982:121340050:121341433:121341521 | 121339982:121340050 | ENSG00000151923.13 | ENST00000470635.1 |
| exon_skip_54416 | 10 | 121339446:121339522:121339982:121340358:121341433:121341521 | 121339982:121340358 | ENSG00000151923.13 | ENST00000497671.1,ENST00000369092.4 |
| exon_skip_54425 | 10 | 121341680:121341735:121341970:121342069:121347663:121347722 | 121341970:121342069 | ENSG00000151923.13 | ENST00000489822.1,ENST00000497671.1,ENST00000369092.4,ENST00000470781.1,ENST00000436547.2,ENST00000412524.1,ENST00000369086.1 |
| exon_skip_54426 | 10 | 121341680:121341735:121341970:121342120:121347663:121347722 | 121341970:121342120 | ENSG00000151923.13 | ENST00000369093.2 |
| exon_skip_54427 | 10 | 121341970:121342069:121347663:121347760:121355945:121356007 | 121347663:121347760 | ENSG00000151923.13 | ENST00000489822.1,ENST00000497671.1,ENST00000369092.4,ENST00000436547.2 |
| exon_skip_54432 | 10 | 121347678:121347760:121351766:121351808:121352963:121353006 | 121351766:121351808 | ENSG00000151923.13 | ENST00000462373.1 |
| PSI values of skipped exons in GTEx. |
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| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for TIAL1 |
| 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 |
| ENST00000436547 | 121347663 | 121347760 | Frame-shift |
| ENST00000436547 | 121337152 | 121337248 | In-frame |
| ENST00000436547 | 121341970 | 121342069 | In-frame |
| 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 |
| ENST00000436547 | 121347663 | 121347760 | Frame-shift |
| ENST00000436547 | 121337152 | 121337248 | In-frame |
| ENST00000436547 | 121341970 | 121342069 | In-frame |
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Infer the effects of exon skipping event on protein functional features for TIAL1 |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
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| 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 |
| ENST00000436547 | 1418 | 375 | 121341970 | 121342069 | 175 | 273 | 43 | 76 |
| ENST00000436547 | 1418 | 375 | 121337152 | 121337248 | 602 | 697 | 185 | 217 |
| 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 |
| ENST00000436547 | 1418 | 375 | 121341970 | 121342069 | 175 | 273 | 43 | 76 |
| ENST00000436547 | 1418 | 375 | 121337152 | 121337248 | 602 | 697 | 185 | 217 |
| 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 |
| Q01085 | 43 | 76 | 43 | 43 | Alternative sequence | ID=VSP_043700;Note=In isoform 2. E->EQPDSRRVNSSVGFSVLQ;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q01085 | 43 | 76 | 50 | 57 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2CQI |
| Q01085 | 43 | 76 | 71 | 73 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2CQI |
| Q01085 | 43 | 76 | 76 | 82 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2CQI |
| Q01085 | 43 | 76 | 1 | 375 | Chain | ID=PRO_0000081978;Note=Nucleolysin TIAR |
| Q01085 | 43 | 76 | 9 | 85 | Domain | Note=RRM 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00176 |
| Q01085 | 43 | 76 | 58 | 68 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2CQI |
| Q01085 | 185 | 217 | 206 | 210 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1X4G |
| Q01085 | 185 | 217 | 1 | 375 | Chain | ID=PRO_0000081978;Note=Nucleolysin TIAR |
| Q01085 | 185 | 217 | 205 | 277 | Domain | Note=RRM 3;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00176 |
| Q01085 | 185 | 217 | 193 | 199 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1X4G |
| Q01085 | 185 | 217 | 201 | 201 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:20068231;Dbxref=PMID:20068231 |
| 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 |
| Q01085 | 43 | 76 | 43 | 43 | Alternative sequence | ID=VSP_043700;Note=In isoform 2. E->EQPDSRRVNSSVGFSVLQ;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q01085 | 43 | 76 | 50 | 57 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2CQI |
| Q01085 | 43 | 76 | 71 | 73 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2CQI |
| Q01085 | 43 | 76 | 76 | 82 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2CQI |
| Q01085 | 43 | 76 | 1 | 375 | Chain | ID=PRO_0000081978;Note=Nucleolysin TIAR |
| Q01085 | 43 | 76 | 9 | 85 | Domain | Note=RRM 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00176 |
| Q01085 | 43 | 76 | 58 | 68 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2CQI |
| Q01085 | 185 | 217 | 206 | 210 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1X4G |
| Q01085 | 185 | 217 | 1 | 375 | Chain | ID=PRO_0000081978;Note=Nucleolysin TIAR |
| Q01085 | 185 | 217 | 205 | 277 | Domain | Note=RRM 3;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00176 |
| Q01085 | 185 | 217 | 193 | 199 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1X4G |
| Q01085 | 185 | 217 | 201 | 201 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:20068231;Dbxref=PMID:20068231 |
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SNVs in the skipped exons for TIAL1 |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
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| - 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 |
| UCEC | TCGA-AP-A051-01 | exon_skip_54411 | 121337153 | 121337248 | 121337192 | 121337192 | Frame_Shift_Del | A | - | p.C222fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_54425 | 121341971 | 121342069 | 121341978 | 121341978 | Frame_Shift_Del | A | - | p.L91fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_54426 | 121341971 | 121342120 | 121341978 | 121341978 | Frame_Shift_Del | A | - | p.L91fs |
| LIHC | TCGA-G3-A3CH-01 | exon_skip_54425 | 121341971 | 121342069 | 121342007 | 121342008 | Frame_Shift_Del | TG | - | p.81_82del |
| LIHC | TCGA-G3-A3CH-01 | exon_skip_54425 | 121341971 | 121342069 | 121342007 | 121342008 | Frame_Shift_Del | TG | - | p.A81fs |
| LIHC | TCGA-G3-A3CH-01 | exon_skip_54426 | 121341971 | 121342120 | 121342007 | 121342008 | Frame_Shift_Del | TG | - | p.81_82del |
| LIHC | TCGA-G3-A3CH-01 | exon_skip_54426 | 121341971 | 121342120 | 121342007 | 121342008 | Frame_Shift_Del | TG | - | p.A81fs |
| LIHC | TCGA-G3-A3CH-01 | exon_skip_54425 | 121341971 | 121342069 | 121342010 | 121342010 | Frame_Shift_Del | A | - | p.A81fs |
| LIHC | TCGA-G3-A3CH-01 | exon_skip_54426 | 121341971 | 121342120 | 121342010 | 121342010 | Frame_Shift_Del | A | - | p.A81fs |
| UCEC | TCGA-AX-A06H-01 | exon_skip_54427 | 121347664 | 121347760 | 121347664 | 121347665 | Frame_Shift_Del | CT | - | p.E43fs |
| UCEC | TCGA-AX-A06H-01 | exon_skip_54427 | 121347664 | 121347760 | 121347664 | 121347665 | Frame_Shift_Del | CT | - | p.E43_splice |
| UCS | TCGA-N5-A4RD-01 | exon_skip_54411 | 121337153 | 121337248 | 121337193 | 121337194 | Frame_Shift_Ins | - | T | p.M81fs |
| UCS | TCGA-N5-A4RD-01 | exon_skip_54411 | 121337153 | 121337248 | 121337193 | 121337194 | Frame_Shift_Ins | - | T | p.N221fs |
| THYM | TCGA-4X-A9FB-01 | exon_skip_54426 | 121341971 | 121342120 | 121342074 | 121342074 | Nonsense_Mutation | A | T | p.L59X |
| - 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 |
| HEC265_ENDOMETRIUM | 121337153 | 121337248 | 121337194 | 121337194 | Frame_Shift_Del | T | - | p.N204fs |
| COLO205_LARGE_INTESTINE | 121341971 | 121342120 | 121341986 | 121341987 | Frame_Shift_Ins | - | C | p.R71fs |
| COLO205_LARGE_INTESTINE | 121341971 | 121342069 | 121341986 | 121341987 | Frame_Shift_Ins | - | C | p.R71fs |
| COLO678_LARGE_INTESTINE | 121341971 | 121342120 | 121341986 | 121341987 | Frame_Shift_Ins | - | C | p.R71fs |
| COLO678_LARGE_INTESTINE | 121341971 | 121342069 | 121341986 | 121341987 | Frame_Shift_Ins | - | C | p.R71fs |
| LS1034_LARGE_INTESTINE | 121341971 | 121342120 | 121341986 | 121341987 | Frame_Shift_Ins | - | C | p.R71fs |
| LS1034_LARGE_INTESTINE | 121341971 | 121342069 | 121341986 | 121341987 | Frame_Shift_Ins | - | C | p.R71fs |
| NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 121341971 | 121342120 | 121341986 | 121341987 | Frame_Shift_Ins | - | C | p.R71fs |
| NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 121341971 | 121342069 | 121341986 | 121341987 | Frame_Shift_Ins | - | C | p.R71fs |
| SNUC2B_LARGE_INTESTINE | 121341971 | 121342120 | 121341986 | 121341987 | Frame_Shift_Ins | - | C | p.R71fs |
| SNUC2B_LARGE_INTESTINE | 121341971 | 121342069 | 121341986 | 121341987 | Frame_Shift_Ins | - | C | p.R71fs |
| SW1463_LARGE_INTESTINE | 121341971 | 121342120 | 121341986 | 121341987 | Frame_Shift_Ins | - | C | p.R71fs |
| SW1463_LARGE_INTESTINE | 121341971 | 121342069 | 121341986 | 121341987 | Frame_Shift_Ins | - | C | p.R71fs |
| CW2_LARGE_INTESTINE | 121337153 | 121337248 | 121337182 | 121337182 | Missense_Mutation | T | C | p.Y208C |
| JHUEM3_ENDOMETRIUM | 121337153 | 121337248 | 121337183 | 121337183 | Missense_Mutation | A | G | p.Y208H |
| CCK81_LARGE_INTESTINE | 121347664 | 121347760 | 121347684 | 121347684 | Missense_Mutation | T | C | p.S37G |
| MN60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 121347664 | 121347760 | 121347722 | 121347722 | Missense_Mutation | A | C | p.L24R |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for TIAL1 |
| 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 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TIAL1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TIAL1 |
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RelatedDrugs for TIAL1 |
| 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 |
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RelatedDiseases for TIAL1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| TIAL1 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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