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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 DNAJC12 |
 Gene summary |
| Gene information | Gene symbol | DNAJC12 | Gene ID | 56521 |
| Gene name | DnaJ heat shock protein family (Hsp40) member C12 | |
| Synonyms | HPANBH4|JDP1 | |
| Cytomap | 10q21.3 | |
| Type of gene | protein-coding | |
| Description | dnaJ homolog subfamily C member 12DnaJ (Hsp40) homolog, subfamily C, member 12J domain containing protein 1 (JDP1)J domain protein 1j domain-containing protein 1 | |
| Modification date | 20180519 | |
| UniProtAcc | Q9UKB3 | |
| Context | PubMed: DNAJC12 [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 DNAJC12 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 DNAJC12 |
| 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 DNAJC12 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_49639 | 10 | 69556839:69556968:69565340:69565545:69571281:69571421 | 69565340:69565545 | ENSG00000108176.10 | ENST00000483798.2,ENST00000225171.2 |
| exon_skip_49640 | 10 | 69565344:69565545:69571281:69571421:69583071:69583150 | 69571281:69571421 | ENSG00000108176.10 | ENST00000225171.2 |
| exon_skip_49643 | 10 | 69571285:69571421:69575797:69575887:69583071:69583150 | 69575797:69575887 | ENSG00000108176.10 | ENST00000483798.2 |
| exon_skip_49644 | 10 | 69571285:69571421:69575797:69575891:69583071:69583150 | 69575797:69575891 | ENSG00000108176.10 | ENST00000480963.1 |
| exon_skip_49647 | 10 | 69571285:69571421:69583071:69583150:69597691:69597817 | 69583071:69583150 | ENSG00000108176.10 | ENST00000339758.7 |
| exon_skip_49650 | 10 | 69575797:69575891:69583071:69583150:69597691:69597817 | 69583071:69583150 | ENSG00000108176.10 | ENST00000480963.1 |
| exon_skip_49654 | 10 | 69583071:69583150:69587299:69587441:69597691:69597817 | 69587299:69587441 | ENSG00000108176.10 | ENST00000480180.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for DNAJC12 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_49639 | 10 | 69556839:69556968:69565340:69565545:69571281:69571421 | 69565340:69565545 | ENSG00000108176.10 | ENST00000225171.2,ENST00000483798.2 |
| exon_skip_49640 | 10 | 69565344:69565545:69571281:69571421:69583071:69583150 | 69571281:69571421 | ENSG00000108176.10 | ENST00000225171.2 |
| exon_skip_49643 | 10 | 69571285:69571421:69575797:69575887:69583071:69583150 | 69575797:69575887 | ENSG00000108176.10 | ENST00000483798.2 |
| exon_skip_49644 | 10 | 69571285:69571421:69575797:69575891:69583071:69583150 | 69575797:69575891 | ENSG00000108176.10 | ENST00000480963.1 |
| exon_skip_49647 | 10 | 69571285:69571421:69583071:69583150:69597691:69597817 | 69583071:69583150 | ENSG00000108176.10 | ENST00000339758.7 |
| exon_skip_49650 | 10 | 69575797:69575891:69583071:69583150:69597691:69597817 | 69583071:69583150 | ENSG00000108176.10 | ENST00000480963.1 |
| exon_skip_49654 | 10 | 69583071:69583150:69587299:69587441:69597691:69597817 | 69587299:69587441 | ENSG00000108176.10 | ENST00000480180.1 |
| 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 DNAJC12 |
| 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 |
| ENST00000225171 | 69565340 | 69565545 | Frame-shift |
| ENST00000225171 | 69571281 | 69571421 | Frame-shift |
| 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 |
| ENST00000225171 | 69565340 | 69565545 | Frame-shift |
| ENST00000225171 | 69571281 | 69571421 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for DNAJC12 |
| 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 |
| 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 |
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SNVs in the skipped exons for DNAJC12 |
| - 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 |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_49639 | 69565341 | 69565545 | 69565361 | 69565361 | Frame_Shift_Del | G | - | p.P161fs |
| STAD | TCGA-HU-8602-01 | exon_skip_49639 | 69565341 | 69565545 | 69565466 | 69565466 | Frame_Shift_Del | T | - | p.N126fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_49639 | 69565341 | 69565545 | 69565516 | 69565516 | Frame_Shift_Del | T | - | p.K109fs |
| UCEC | TCGA-A5-A0GB-01 | exon_skip_49639 | 69565341 | 69565545 | 69565516 | 69565516 | Frame_Shift_Del | T | - | p.K109fs |
| SKCM | TCGA-EB-A299-01 | exon_skip_49639 | 69565341 | 69565545 | 69565428 | 69565428 | Nonsense_Mutation | C | A | p.E139* |
| SKCM | TCGA-EB-A299-01 | exon_skip_49639 | 69565341 | 69565545 | 69565428 | 69565428 | Nonsense_Mutation | C | A | p.E139X |
| LUAD | TCGA-86-8359-01 | exon_skip_49639 | 69565341 | 69565545 | 69565452 | 69565452 | Nonsense_Mutation | C | A | p.E131* |
| HNSC | TCGA-CV-7245-01 | exon_skip_49640 | 69571282 | 69571421 | 69571401 | 69571401 | Nonsense_Mutation | G | A | p.Q60* |
| - 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 |
| SNU81_LARGE_INTESTINE | 69565341 | 69565545 | 69565408 | 69565408 | Missense_Mutation | C | A | p.E145D |
| BC3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 69571282 | 69571421 | 69571335 | 69571335 | Missense_Mutation | G | C | p.Q82E |
| 639V_URINARY_TRACT | 69571282 | 69571421 | 69571358 | 69571358 | Missense_Mutation | C | T | p.R74H |
| NUGC3_STOMACH | 69571282 | 69571421 | 69571407 | 69571407 | Missense_Mutation | T | G | p.K58Q |
| ISTMES1_PLEURA | 69583072 | 69583150 | 69583095 | 69583095 | Missense_Mutation | T | A | p.K45M |
| GA10_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 69571282 | 69571421 | 69571282 | 69571282 | Splice_Site | C | T | p.T99T |
| LUDLU1_LUNG | 69571282 | 69571421 | 69571283 | 69571283 | Splice_Site | G | A | p.T99M |
| NCIH2172_LUNG | 69583072 | 69583150 | 69583150 | 69583150 | Splice_Site | C | A | p.V27F |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for DNAJC12 |
| 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 DNAJC12 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for DNAJC12 |
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RelatedDrugs for DNAJC12 |
| 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 DNAJC12 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| DNAJC12 | C0008370 | Cholestasis | 1 | CTD_human |
| DNAJC12 | C4277682 | Chemical and Drug Induced Liver Injury | 1 | CTD_human |
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