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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 TECTA |
 Gene summary |
| Gene information | Gene symbol | TECTA | Gene ID | 7007 |
| Gene name | tectorin alpha | |
| Synonyms | DFNA12|DFNA8|DFNB21 | |
| Cytomap | 11q23.3 | |
| Type of gene | protein-coding | |
| Description | alpha-tectorin | |
| Modification date | 20180522 | |
| UniProtAcc | O75443 | |
| Context | PubMed: TECTA [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 TECTA 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 TECTA |
| 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 TECTA |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_66091 | 11 | 120973374:120973438:120976539:120976673:120979919:120980207 | 120976539:120976673 | ENSG00000109927.5 | ENST00000264037.2,ENST00000392793.1 |
| exon_skip_66092 | 11 | 120989014:120989427:120996010:120996581:120998460:120999053 | 120996010:120996581 | ENSG00000109927.5 | ENST00000264037.2,ENST00000392793.1 |
| exon_skip_66094 | 11 | 121000346:121000920:121008129:121008731:121016263:121016825 | 121008129:121008731 | ENSG00000109927.5 | ENST00000264037.2,ENST00000392793.1 |
| exon_skip_66095 | 11 | 121058540:121058703:121059788:121059876:121060472:121060589 | 121059788:121059876 | ENSG00000109927.5 | ENST00000264037.2,ENST00000392793.1 |
| exon_skip_66096 | 11 | 121059788:121059876:121060472:121060589:121061414:121061515 | 121060472:121060589 | ENSG00000109927.5 | ENST00000264037.2,ENST00000392793.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for TECTA |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_66091 | 11 | 120973374:120973438:120976539:120976673:120979919:120980207 | 120976539:120976673 | ENSG00000109927.5 | ENST00000392793.1,ENST00000264037.2 |
| exon_skip_66092 | 11 | 120989014:120989427:120996010:120996581:120998460:120999053 | 120996010:120996581 | ENSG00000109927.5 | ENST00000392793.1,ENST00000264037.2 |
| exon_skip_66094 | 11 | 121000346:121000920:121008129:121008731:121016263:121016825 | 121008129:121008731 | ENSG00000109927.5 | ENST00000392793.1,ENST00000264037.2 |
| exon_skip_66095 | 11 | 121058540:121058703:121059788:121059876:121060472:121060589 | 121059788:121059876 | ENSG00000109927.5 | ENST00000392793.1,ENST00000264037.2 |
| exon_skip_66096 | 11 | 121059788:121059876:121060472:121060589:121061414:121061515 | 121060472:121060589 | ENSG00000109927.5 | ENST00000392793.1,ENST00000264037.2 |
| 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 TECTA |
| 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 |
| ENST00000264037 | 120976539 | 120976673 | Frame-shift |
| ENST00000392793 | 120976539 | 120976673 | Frame-shift |
| ENST00000264037 | 120996010 | 120996581 | Frame-shift |
| ENST00000392793 | 120996010 | 120996581 | Frame-shift |
| ENST00000264037 | 121008129 | 121008731 | Frame-shift |
| ENST00000392793 | 121008129 | 121008731 | Frame-shift |
| ENST00000264037 | 121059788 | 121059876 | Frame-shift |
| ENST00000392793 | 121059788 | 121059876 | Frame-shift |
| ENST00000264037 | 121060472 | 121060589 | In-frame |
| ENST00000392793 | 121060472 | 121060589 | 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 |
| ENST00000264037 | 120976539 | 120976673 | Frame-shift |
| ENST00000392793 | 120976539 | 120976673 | Frame-shift |
| ENST00000264037 | 120996010 | 120996581 | Frame-shift |
| ENST00000392793 | 120996010 | 120996581 | Frame-shift |
| ENST00000264037 | 121008129 | 121008731 | Frame-shift |
| ENST00000392793 | 121008129 | 121008731 | Frame-shift |
| ENST00000264037 | 121059788 | 121059876 | Frame-shift |
| ENST00000392793 | 121059788 | 121059876 | Frame-shift |
| ENST00000264037 | 121060472 | 121060589 | In-frame |
| ENST00000392793 | 121060472 | 121060589 | In-frame |
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Infer the effects of exon skipping event on protein functional features for TECTA |
| 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 |
| ENST00000264037 | 6485 | 2155 | 121060472 | 121060589 | 6251 | 6367 | 2083 | 2122 |
| ENST00000392793 | 7443 | 2155 | 121060472 | 121060589 | 6522 | 6638 | 2083 | 2122 |
| 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 |
| ENST00000264037 | 6485 | 2155 | 121060472 | 121060589 | 6251 | 6367 | 2083 | 2122 |
| ENST00000392793 | 7443 | 2155 | 121060472 | 121060589 | 6522 | 6638 | 2083 | 2122 |
| 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 |
| O75443 | 2083 | 2122 | 23 | 2091 | Chain | ID=PRO_0000041735;Note=Alpha-tectorin |
| O75443 | 2083 | 2122 | 23 | 2091 | Chain | ID=PRO_0000041735;Note=Alpha-tectorin |
| O75443 | 2083 | 2122 | 2091 | 2091 | Lipidation | Note=GPI-anchor amidated asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O75443 | 2083 | 2122 | 2091 | 2091 | Lipidation | Note=GPI-anchor amidated asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O75443 | 2083 | 2122 | 2100 | 2100 | Natural variant | ID=VAR_018978;Note=S->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10987647;Dbxref=PMID:10987647 |
| O75443 | 2083 | 2122 | 2100 | 2100 | Natural variant | ID=VAR_018978;Note=S->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10987647;Dbxref=PMID:10987647 |
| O75443 | 2083 | 2122 | 2092 | 2155 | Propeptide | ID=PRO_0000041736;Note=Removed in mature form;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O75443 | 2083 | 2122 | 2092 | 2155 | Propeptide | ID=PRO_0000041736;Note=Removed in mature form;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| 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 |
| O75443 | 2083 | 2122 | 23 | 2091 | Chain | ID=PRO_0000041735;Note=Alpha-tectorin |
| O75443 | 2083 | 2122 | 23 | 2091 | Chain | ID=PRO_0000041735;Note=Alpha-tectorin |
| O75443 | 2083 | 2122 | 2091 | 2091 | Lipidation | Note=GPI-anchor amidated asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O75443 | 2083 | 2122 | 2091 | 2091 | Lipidation | Note=GPI-anchor amidated asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O75443 | 2083 | 2122 | 2100 | 2100 | Natural variant | ID=VAR_018978;Note=S->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10987647;Dbxref=PMID:10987647 |
| O75443 | 2083 | 2122 | 2100 | 2100 | Natural variant | ID=VAR_018978;Note=S->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10987647;Dbxref=PMID:10987647 |
| O75443 | 2083 | 2122 | 2092 | 2155 | Propeptide | ID=PRO_0000041736;Note=Removed in mature form;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O75443 | 2083 | 2122 | 2092 | 2155 | Propeptide | ID=PRO_0000041736;Note=Removed in mature form;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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SNVs in the skipped exons for TECTA |
| - 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 |
| LUAD | TCGA-17-Z009-01 | exon_skip_66091 | 120976540 | 120976673 | 120976570 | 120976570 | Frame_Shift_Del | G | - | p.W32fs |
| STAD | TCGA-HU-A4GU-01 | exon_skip_66092 | 120996011 | 120996581 | 120996203 | 120996203 | Frame_Shift_Del | A | - | p.N465fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_66095 | 121059789 | 121059876 | 121059827 | 121059827 | Frame_Shift_Del | A | - | p.T2067fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_66095 | 121059789 | 121059876 | 121059872 | 121059872 | Frame_Shift_Del | A | - | p.R2082fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_66096 | 121060473 | 121060589 | 121060512 | 121060512 | Frame_Shift_Del | T | - | p.I2097fs |
| BLCA | TCGA-UY-A78K-01 | exon_skip_66091 | 120976540 | 120976673 | 120976571 | 120976571 | Nonsense_Mutation | G | A | p.W32* |
| SKCM | TCGA-FW-A3R5-06 | exon_skip_66092 | 120996011 | 120996581 | 120996131 | 120996131 | Nonsense_Mutation | C | T | p.Q442* |
| SKCM | TCGA-FW-A3R5-06 | exon_skip_66092 | 120996011 | 120996581 | 120996131 | 120996131 | Nonsense_Mutation | C | T | p.Q442X |
| HNSC | TCGA-D6-6516-01 | exon_skip_66094 | 121008130 | 121008731 | 121008716 | 121008716 | Nonsense_Mutation | C | A | p.Y1176* |
| UCEC | TCGA-A5-A0GB-01 | exon_skip_66096 | 121060473 | 121060589 | 121060496 | 121060496 | Nonsense_Mutation | G | T | p.G2092* |
| STAD | TCGA-CG-4305-01 | exon_skip_66096 | 121060473 | 121060589 | 121060508 | 121060508 | Nonsense_Mutation | C | T | p.Q2096* |
| STAD | TCGA-CG-4305-01 | exon_skip_66096 | 121060473 | 121060589 | 121060508 | 121060508 | Nonsense_Mutation | C | T | p.Q2096X |
| - 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 |
| SW756_CERVIX | 121008130 | 121008731 | 121008636 | 121008637 | Frame_Shift_Ins | - | G | p.R1150fs |
| LNCAPCLONEFGC_PROSTATE | 120996011 | 120996581 | 120996039 | 120996039 | Missense_Mutation | T | A | p.V411D |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 120996011 | 120996581 | 120996082 | 120996082 | Missense_Mutation | A | G | p.I425M |
| HCC15_LUNG | 120996011 | 120996581 | 120996127 | 120996127 | Missense_Mutation | T | A | p.D440E |
| HCC15_LUNG | 120996011 | 120996581 | 120996127 | 120996128 | Missense_Mutation | TG | AT | p.440_441DG>EC |
| HCC15_LUNG | 120996011 | 120996581 | 120996128 | 120996128 | Missense_Mutation | G | T | p.G441C |
| CAKI1_KIDNEY | 120996011 | 120996581 | 120996135 | 120996135 | Missense_Mutation | A | T | p.H443L |
| SW684_SOFT_TISSUE | 120996011 | 120996581 | 120996174 | 120996174 | Missense_Mutation | C | T | p.S456F |
| TE6_OESOPHAGUS | 120996011 | 120996581 | 120996231 | 120996231 | Missense_Mutation | C | T | p.P475L |
| NCIH226_LUNG | 120996011 | 120996581 | 120996248 | 120996248 | Missense_Mutation | A | G | p.M481V |
| CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 120996011 | 120996581 | 120996260 | 120996260 | Missense_Mutation | G | T | p.D485Y |
| MOLM13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 120996011 | 120996581 | 120996278 | 120996278 | Missense_Mutation | C | T | p.R491C |
| TCCPAN2_PANCREAS | 120996011 | 120996581 | 120996278 | 120996278 | Missense_Mutation | C | T | p.R491C |
| MMACSF_SKIN | 120996011 | 120996581 | 120996278 | 120996278 | Missense_Mutation | C | T | p.R491C |
| SCH_STOMACH | 120996011 | 120996581 | 120996278 | 120996278 | Missense_Mutation | C | T | p.R491C |
| TGW_AUTONOMIC_GANGLIA | 120996011 | 120996581 | 120996278 | 120996278 | Missense_Mutation | C | T | p.R491C |
| KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 120996011 | 120996581 | 120996285 | 120996285 | Missense_Mutation | A | G | p.Y493C |
| HEC108_ENDOMETRIUM | 120996011 | 120996581 | 120996306 | 120996306 | Missense_Mutation | A | G | p.D500G |
| NCIH2595_PLEURA | 120996011 | 120996581 | 120996317 | 120996317 | Missense_Mutation | G | A | p.V504I |
| KM12_LARGE_INTESTINE | 120996011 | 120996581 | 120996338 | 120996338 | Missense_Mutation | G | A | p.D511N |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 120996011 | 120996581 | 120996437 | 120996437 | Missense_Mutation | A | G | p.T544A |
| CW2_LARGE_INTESTINE | 120996011 | 120996581 | 120996438 | 120996438 | Missense_Mutation | C | T | p.T544I |
| SNUC2A_LARGE_INTESTINE | 120996011 | 120996581 | 120996494 | 120996494 | Missense_Mutation | C | T | p.L563F |
| SNUC2B_LARGE_INTESTINE | 120996011 | 120996581 | 120996494 | 120996494 | Missense_Mutation | C | T | p.L563F |
| GP5D_LARGE_INTESTINE | 121008130 | 121008731 | 121008160 | 121008160 | Missense_Mutation | A | T | p.E991V |
| SUM159PT_BREAST | 121008130 | 121008731 | 121008190 | 121008190 | Missense_Mutation | A | T | p.E1001V |
| SW872_SOFT_TISSUE | 121008130 | 121008731 | 121008192 | 121008192 | Missense_Mutation | A | T | p.T1002S |
| NCIH2869_PLEURA | 121008130 | 121008731 | 121008216 | 121008216 | Missense_Mutation | G | A | p.V1010M |
| HEC251_ENDOMETRIUM | 121008130 | 121008731 | 121008259 | 121008259 | Missense_Mutation | C | T | p.A1024V |
| MERO83_LUNG | 121008130 | 121008731 | 121008268 | 121008268 | Missense_Mutation | G | C | p.G1027A |
| MCC13_SKIN | 121008130 | 121008731 | 121008415 | 121008415 | Missense_Mutation | C | T | p.P1076L |
| NCIH2342_LUNG | 121008130 | 121008731 | 121008448 | 121008448 | Missense_Mutation | G | T | p.G1087V |
| PACADD165_PANCREAS | 121008130 | 121008731 | 121008499 | 121008499 | Missense_Mutation | G | T | p.G1104V |
| CP67MEL_SKIN | 121059789 | 121059876 | 121059859 | 121059859 | Missense_Mutation | G | A | p.G2078E |
| NUGC3_STOMACH | 121059789 | 121059876 | 121059861 | 121059861 | Missense_Mutation | C | T | p.P2079S |
| NCIH2023_LUNG | 121060473 | 121060589 | 121060532 | 121060532 | Missense_Mutation | G | T | p.G2104W |
| WM2664_SKIN | 121060473 | 121060589 | 121060536 | 121060536 | Missense_Mutation | C | T | p.P2105L |
| WM115_SKIN | 121060473 | 121060589 | 121060536 | 121060536 | Missense_Mutation | C | T | p.P2105L |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 121060473 | 121060589 | 121060572 | 121060572 | Missense_Mutation | A | G | p.D2117G |
| OC316_OVARY | 121060473 | 121060589 | 121060486 | 121060486 | Nonsense_Mutation | T | A | p.C2088* |
| OC314_OVARY | 121060473 | 121060589 | 121060486 | 121060486 | Nonsense_Mutation | T | A | p.C2088* |
| A4FUK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 120996011 | 120996581 | 120996012 | 120996012 | Splice_Site | T | G | p.V402G |
| CHL1_SKIN | 120996011 | 120996581 | 120996012 | 120996012 | Splice_Site | T | G | p.V402G |
| COLO205_LARGE_INTESTINE | 120996011 | 120996581 | 120996012 | 120996012 | Splice_Site | T | G | p.V402G |
| COLO320_LARGE_INTESTINE | 120996011 | 120996581 | 120996012 | 120996012 | Splice_Site | T | G | p.V402G |
| LS123_LARGE_INTESTINE | 120996011 | 120996581 | 120996012 | 120996012 | Splice_Site | T | G | p.V402G |
| MELJUSO_SKIN | 120996011 | 120996581 | 120996012 | 120996012 | Splice_Site | T | G | p.V402G |
| NCIH226_LUNG | 120996011 | 120996581 | 120996012 | 120996012 | Splice_Site | T | G | p.V402G |
| NCIH292_LUNG | 120996011 | 120996581 | 120996012 | 120996012 | Splice_Site | T | G | p.V402G |
| NCIH358_LUNG | 120996011 | 120996581 | 120996012 | 120996012 | Splice_Site | T | G | p.V402G |
| NCIH441_LUNG | 120996011 | 120996581 | 120996012 | 120996012 | Splice_Site | T | G | p.V402G |
| NCIH716_LARGE_INTESTINE | 120996011 | 120996581 | 120996012 | 120996012 | Splice_Site | T | G | p.V402G |
| SHP77_LUNG | 120996011 | 120996581 | 120996012 | 120996012 | Splice_Site | T | G | p.V402G |
| SKMES1_LUNG | 120996011 | 120996581 | 120996012 | 120996012 | Splice_Site | T | G | p.V402G |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for TECTA |
| 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 TECTA |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TECTA |
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RelatedDrugs for TECTA |
| 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 TECTA |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| TECTA | C1832187 | Deafness, Autosomal Dominant 12 | 8 | CTD_human;UNIPROT |
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