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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 KRT72 |
 Gene summary |
| Gene information | Gene symbol | KRT72 | Gene ID | 140807 |
| Gene name | keratin 72 | |
| Synonyms | K6IRS2|K6irs|KRT6|KRT6IRS2 | |
| Cytomap | 12q13.13 | |
| Type of gene | protein-coding | |
| Description | keratin, type II cytoskeletal 72CK-72K72cytokeratin-72keratin 6, inner root sheath, 2keratin 72, type IIkeratin protein K6irstype II inner root sheath-specific keratin-K6irs2type-II keratin Kb35 | |
| Modification date | 20180519 | |
| UniProtAcc | Q14CN4 | |
| Context | PubMed: KRT72 [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 KRT72 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 KRT72 |
| 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 KRT72 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_92404 | 12 | 52981414:52981635:52984619:52984745:52985247:52985412 | 52984619:52984745 | ENSG00000170486.6 | ENST00000537672.2,ENST00000398066.3,ENST00000550829.1,ENST00000293745.2 |
| exon_skip_92405 | 12 | 52992737:52992896:52993054:52993086:52994810:52995193 | 52993054:52993086 | ENSG00000170486.6 | ENST00000549979.1 |
| exon_skip_92406 | 12 | 52992737:52992896:52993054:52993193:52994810:52995193 | 52993054:52993193 | ENSG00000170486.6 | ENST00000398066.3,ENST00000550829.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for KRT72 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_92404 | 12 | 52981414:52981635:52984619:52984745:52985247:52985412 | 52984619:52984745 | ENSG00000170486.6 | ENST00000537672.2,ENST00000293745.2,ENST00000550829.1,ENST00000398066.3 |
| exon_skip_92405 | 12 | 52992737:52992896:52993054:52993086:52994810:52995193 | 52993054:52993086 | ENSG00000170486.6 | ENST00000549979.1 |
| exon_skip_92406 | 12 | 52992737:52992896:52993054:52993193:52994810:52995193 | 52993054:52993193 | ENSG00000170486.6 | ENST00000550829.1,ENST00000398066.3 |
| 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 KRT72 |
| 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 |
| ENST00000293745 | 52984619 | 52984745 | In-frame |
| ENST00000537672 | 52984619 | 52984745 | 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 |
| ENST00000293745 | 52984619 | 52984745 | In-frame |
| ENST00000537672 | 52984619 | 52984745 | In-frame |
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Infer the effects of exon skipping event on protein functional features for KRT72 |
| 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 |
| ENST00000293745 | 2032 | 511 | 52984619 | 52984745 | 1050 | 1175 | 321 | 363 |
| ENST00000537672 | 1830 | 511 | 52984619 | 52984745 | 975 | 1100 | 321 | 363 |
| 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 |
| ENST00000293745 | 2032 | 511 | 52984619 | 52984745 | 1050 | 1175 | 321 | 363 |
| ENST00000537672 | 1830 | 511 | 52984619 | 52984745 | 975 | 1100 | 321 | 363 |
| 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 |
| Q14CN4 | 321 | 363 | 322 | 363 | Alternative sequence | ID=VSP_045280;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q14CN4 | 321 | 363 | 322 | 363 | Alternative sequence | ID=VSP_045280;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q14CN4 | 321 | 363 | 363 | 363 | Alternative sequence | ID=VSP_030416;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11703281;Dbxref=PMID:11703281 |
| Q14CN4 | 321 | 363 | 363 | 363 | Alternative sequence | ID=VSP_030416;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11703281;Dbxref=PMID:11703281 |
| Q14CN4 | 321 | 363 | 1 | 511 | Chain | ID=PRO_0000314877;Note=Keratin%2C type II cytoskeletal 72 |
| Q14CN4 | 321 | 363 | 1 | 511 | Chain | ID=PRO_0000314877;Note=Keratin%2C type II cytoskeletal 72 |
| Q14CN4 | 321 | 363 | 125 | 438 | Domain | Note=IF rod;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01188 |
| Q14CN4 | 321 | 363 | 125 | 438 | Domain | Note=IF rod;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01188 |
| Q14CN4 | 321 | 363 | 326 | 326 | Natural variant | ID=VAR_061298;Note=Q->E;Dbxref=dbSNP:rs34769047 |
| Q14CN4 | 321 | 363 | 326 | 326 | Natural variant | ID=VAR_061298;Note=Q->E;Dbxref=dbSNP:rs34769047 |
| Q14CN4 | 321 | 363 | 296 | 434 | Region | Note=Coil 2 |
| Q14CN4 | 321 | 363 | 296 | 434 | Region | Note=Coil 2 |
| 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 |
| Q14CN4 | 321 | 363 | 322 | 363 | Alternative sequence | ID=VSP_045280;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q14CN4 | 321 | 363 | 322 | 363 | Alternative sequence | ID=VSP_045280;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q14CN4 | 321 | 363 | 363 | 363 | Alternative sequence | ID=VSP_030416;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11703281;Dbxref=PMID:11703281 |
| Q14CN4 | 321 | 363 | 363 | 363 | Alternative sequence | ID=VSP_030416;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11703281;Dbxref=PMID:11703281 |
| Q14CN4 | 321 | 363 | 1 | 511 | Chain | ID=PRO_0000314877;Note=Keratin%2C type II cytoskeletal 72 |
| Q14CN4 | 321 | 363 | 1 | 511 | Chain | ID=PRO_0000314877;Note=Keratin%2C type II cytoskeletal 72 |
| Q14CN4 | 321 | 363 | 125 | 438 | Domain | Note=IF rod;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01188 |
| Q14CN4 | 321 | 363 | 125 | 438 | Domain | Note=IF rod;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01188 |
| Q14CN4 | 321 | 363 | 326 | 326 | Natural variant | ID=VAR_061298;Note=Q->E;Dbxref=dbSNP:rs34769047 |
| Q14CN4 | 321 | 363 | 326 | 326 | Natural variant | ID=VAR_061298;Note=Q->E;Dbxref=dbSNP:rs34769047 |
| Q14CN4 | 321 | 363 | 296 | 434 | Region | Note=Coil 2 |
| Q14CN4 | 321 | 363 | 296 | 434 | Region | Note=Coil 2 |
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SNVs in the skipped exons for KRT72 |
| - 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-MP-A4TF-01 | exon_skip_92404 | 52984620 | 52984745 | 52984643 | 52984643 | Nonsense_Mutation | C | A | p.E356* |
| BLCA | TCGA-GD-A3OP-01 | exon_skip_92404 | 52984620 | 52984745 | 52984645 | 52984645 | Nonsense_Mutation | G | C | p.S355* |
| ESCA | TCGA-JY-A6F8-01 | exon_skip_92404 | 52984620 | 52984745 | 52984742 | 52984742 | Nonsense_Mutation | G | A | p.Q323* |
| ESCA | TCGA-JY-A6F8-01 | exon_skip_92404 | 52984620 | 52984745 | 52984742 | 52984742 | Nonsense_Mutation | G | A | p.Q323X |
| - 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 |
| HEC108_ENDOMETRIUM | 52984620 | 52984745 | 52984667 | 52984667 | Missense_Mutation | G | A | p.R348C |
| SNU349_KIDNEY | 52984620 | 52984745 | 52984699 | 52984699 | Missense_Mutation | T | A | p.K337M |
| MM370_SKIN | 52984620 | 52984745 | 52984739 | 52984739 | Missense_Mutation | C | T | p.E324K |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for KRT72 |
| 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 KRT72 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for KRT72 |
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RelatedDrugs for KRT72 |
| 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 KRT72 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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