|
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 ITPK1 |
Gene summary |
Gene information | Gene symbol | ITPK1 | Gene ID | 3705 |
Gene name | inositol-tetrakisphosphate 1-kinase | |
Synonyms | ITRPK1 | |
Cytomap | 14q32.12 | |
Type of gene | protein-coding | |
Description | inositol-tetrakisphosphate 1-kinaseinositol 1,3,4-trisphosphate 5/6-kinaseins(1,3,4)P(3) 5/6-kinase | |
Modification date | 20180529 | |
UniProtAcc | Q13572 | |
Context | PubMed: ITPK1 [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 |
Top |
Exon skipping events across known transcript of Ensembl for ITPK1 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 ITPK1 |
Expression levels of gene isoforms across TCGA. |
Expression levels of gene isoforms across GTEx. |
Top |
Exon skipping events with PSIs in TCGA for ITPK1 |
Information of exkip skipping event in TCGA. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_115347 | 14 | 93412803:93412838:93418290:93418358:93424545:93424711 | 93418290:93418358 | ENSG00000100605.12 | ENST00000556954.1,ENST00000553695.1,ENST00000267615.6,ENST00000556603.2,ENST00000555495.1,ENST00000354313.3 |
exon_skip_115350 | 14 | 93428699:93428740:93429095:93429194:93460224:93460342 | 93429095:93429194 | ENSG00000100605.12 | ENST00000553695.1,ENST00000556185.1,ENST00000557309.1,ENST00000554999.1,ENST00000267615.6,ENST00000556603.2,ENST00000555495.1,ENST00000553452.1,ENST00000354313.3 |
exon_skip_115351 | 14 | 93428699:93428740:93429095:93429212:93460224:93460342 | 93429095:93429212 | ENSG00000100605.12 | ENST00000555553.1 |
exon_skip_115352 | 14 | 93429176:93429194:93460224:93460342:93483020:93483146 | 93460224:93460342 | ENSG00000100605.12 | ENST00000556185.1,ENST00000557309.1,ENST00000267615.6,ENST00000556603.2,ENST00000555495.1,ENST00000553452.1,ENST00000354313.3,ENST00000553655.1 |
exon_skip_115357 | 14 | 93460224:93460342:93483020:93483146:93542939:93542960 | 93483020:93483146 | ENSG00000100605.12 | ENST00000557309.1,ENST00000267615.6,ENST00000556603.2,ENST00000555553.1,ENST00000553452.1,ENST00000354313.3 |
exon_skip_115358 | 14 | 93460224:93460342:93483020:93483146:93581413:93581529 | 93483020:93483146 | ENSG00000100605.12 | ENST00000555495.1 |
exon_skip_115360 | 14 | 93460224:93460342:93542939:93542964:93581413:93581529 | 93542939:93542964 | ENSG00000100605.12 | ENST00000554999.1 |
exon_skip_115365 | 14 | 93483020:93483146:93542939:93542964:93581413:93581529 | 93542939:93542964 | ENSG00000100605.12 | ENST00000557309.1,ENST00000267615.6,ENST00000556603.2,ENST00000555553.1,ENST00000553452.1,ENST00000354313.3 |
exon_skip_115370 | 14 | 93542939:93542964:93581413:93581529:93582116:93582148 | 93581413:93581529 | ENSG00000100605.12 | ENST00000556603.2 |
exon_skip_115371 | 14 | 93542939:93542964:93581413:93581562:93582116:93582148 | 93581413:93581562 | ENSG00000100605.12 | ENST00000553452.1 |
exon_skip_115372 | 14 | 93542939:93542964:93581413:93581650:93582116:93582148 | 93581413:93581650 | ENSG00000100605.12 | ENST00000354313.3 |
PSI values of skipped exons in TCGA. |
Top |
Exon skipping events with PSIs in GTEx for ITPK1 |
Information of exkip skipping event in GTEx |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_115347 | 14 | 93412803:93412838:93418290:93418358:93424545:93424711 | 93418290:93418358 | ENSG00000100605.12 | ENST00000267615.6,ENST00000354313.3,ENST00000556603.2,ENST00000555495.1,ENST00000556954.1,ENST00000553695.1 |
exon_skip_115350 | 14 | 93428699:93428740:93429095:93429194:93460224:93460342 | 93429095:93429194 | ENSG00000100605.12 | ENST00000267615.6,ENST00000354313.3,ENST00000556603.2,ENST00000555495.1,ENST00000553695.1,ENST00000554999.1,ENST00000556185.1,ENST00000553452.1,ENST00000557309.1 |
exon_skip_115351 | 14 | 93428699:93428740:93429095:93429212:93460224:93460342 | 93429095:93429212 | ENSG00000100605.12 | ENST00000555553.1 |
exon_skip_115352 | 14 | 93429176:93429194:93460224:93460342:93483020:93483146 | 93460224:93460342 | ENSG00000100605.12 | ENST00000267615.6,ENST00000354313.3,ENST00000556603.2,ENST00000555495.1,ENST00000556185.1,ENST00000553452.1,ENST00000557309.1,ENST00000553655.1 |
exon_skip_115357 | 14 | 93460224:93460342:93483020:93483146:93542939:93542960 | 93483020:93483146 | ENSG00000100605.12 | ENST00000267615.6,ENST00000354313.3,ENST00000556603.2,ENST00000555553.1,ENST00000553452.1,ENST00000557309.1 |
exon_skip_115358 | 14 | 93460224:93460342:93483020:93483146:93581413:93581529 | 93483020:93483146 | ENSG00000100605.12 | ENST00000555495.1 |
exon_skip_115360 | 14 | 93460224:93460342:93542939:93542964:93581413:93581529 | 93542939:93542964 | ENSG00000100605.12 | ENST00000554999.1 |
exon_skip_115365 | 14 | 93483020:93483146:93542939:93542964:93581413:93581529 | 93542939:93542964 | ENSG00000100605.12 | ENST00000267615.6,ENST00000354313.3,ENST00000556603.2,ENST00000555553.1,ENST00000553452.1,ENST00000557309.1 |
exon_skip_115370 | 14 | 93542939:93542964:93581413:93581529:93582116:93582148 | 93581413:93581529 | ENSG00000100605.12 | ENST00000556603.2 |
exon_skip_115371 | 14 | 93542939:93542964:93581413:93581562:93582116:93582148 | 93581413:93581562 | ENSG00000100605.12 | ENST00000553452.1 |
exon_skip_115372 | 14 | 93542939:93542964:93581413:93581650:93582116:93582148 | 93581413:93581650 | ENSG00000100605.12 | ENST00000354313.3 |
PSI values of skipped exons in GTEx. |
* Skipped exon sequences. |
Top |
Open reading frame (ORF) annotation in the exon skipping event for ITPK1 |
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 ITPK1 |
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 ITPK1 |
- 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 |
LIHC | TCGA-G3-A3CJ-01 | exon_skip_115352 | 93460225 | 93460342 | 93460282 | 93460282 | Frame_Shift_Del | G | - | p.L104fs |
LIHC | TCGA-G3-A5SM-01 | exon_skip_115360 exon_skip_115365 | 93542940 | 93542964 | 93542960 | 93542960 | Nonsense_Mutation | G | A | p.R34* |
LIHC | TCGA-G3-A5SM-01 | exon_skip_115360 exon_skip_115365 | 93542940 | 93542964 | 93542960 | 93542960 | Nonsense_Mutation | G | A | p.R34X |
LUSC | TCGA-37-5819-01 | exon_skip_115358 exon_skip_115357 | 93483021 | 93483146 | 93483148 | 93483148 | Splice_Site | T | A | p.L41_splice |
- Depth of coverage in the three exons composing exon skipping event |
- 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 |
CASKI_CERVIX | 93429096 | 93429212 | 93429144 | 93429144 | Missense_Mutation | C | T | p.D139N |
CASKI_CERVIX | 93429096 | 93429194 | 93429144 | 93429144 | Missense_Mutation | C | T | p.D139N |
RCHACV_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 93460225 | 93460342 | 93460272 | 93460272 | Missense_Mutation | C | T | p.R106H |
TOV21G_OVARY | 93460225 | 93460342 | 93460330 | 93460330 | Missense_Mutation | C | T | p.A87T |
KMS18_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 93483021 | 93483146 | 93483065 | 93483065 | Missense_Mutation | C | T | p.D68N |
BICR18_UPPER_AERODIGESTIVE_TRACT | 93581414 | 93581529 | 93581454 | 93581454 | Missense_Mutation | T | C | p.I19V |
BICR18_UPPER_AERODIGESTIVE_TRACT | 93581414 | 93581562 | 93581454 | 93581454 | Missense_Mutation | T | C | p.I19V |
BICR18_UPPER_AERODIGESTIVE_TRACT | 93581414 | 93581650 | 93581454 | 93581454 | Missense_Mutation | T | C | p.I19V |
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 93581414 | 93581529 | 93581454 | 93581454 | Missense_Mutation | T | C | p.I19V |
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 93581414 | 93581562 | 93581454 | 93581454 | Missense_Mutation | T | C | p.I19V |
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 93581414 | 93581650 | 93581454 | 93581454 | Missense_Mutation | T | C | p.I19V |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ITPK1 |
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 ITPK1 |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ITPK1 |
Top |
RelatedDrugs for ITPK1 |
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 ITPK1 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |
ITPK1 | C0027626 | Neoplasm Invasiveness | 1 | CTD_human |