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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 DNAJC1 |
 Gene summary |
| Gene information | Gene symbol | DNAJC1 | Gene ID | 64215 |
| Gene name | DnaJ heat shock protein family (Hsp40) member C1 | |
| Synonyms | DNAJL1|ERdj1|HTJ1|MTJ1 | |
| Cytomap | 10p12.31 | |
| Type of gene | protein-coding | |
| Description | dnaJ homolog subfamily C member 1DnaJ (Hsp40) homolog, subfamily C, member 1DnaJ-like proteindnaJ protein homolog MTJ1 | |
| Modification date | 20180519 | |
| UniProtAcc | Q96KC8 | |
| Context | PubMed: DNAJC1 [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 |
| DNAJC1 | GO:0050708 | regulation of protein secretion | 14668352 |
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Exon skipping events across known transcript of Ensembl for DNAJC1 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 DNAJC1 |
| 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 DNAJC1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_48195 | 10 | 22055189:22055238:22094908:22095028:22171210:22171314 | 22094908:22095028 | ENSG00000136770.6 | ENST00000376980.3 |
| exon_skip_48208 | 10 | 22094908:22095028:22171210:22171368:22193450:22193541 | 22171210:22171368 | ENSG00000136770.6 | ENST00000376980.3 |
| exon_skip_48220 | 10 | 22171210:22171368:22193450:22193541:22207707:22207801 | 22193450:22193541 | ENSG00000136770.6 | ENST00000376980.3 |
| exon_skip_48225 | 10 | 22208831:22208858:22209726:22209892:22217434:22217481 | 22209726:22209892 | ENSG00000136770.6 | ENST00000376980.3 |
| exon_skip_48226 | 10 | 22208831:22208858:22209726:22209892:22217968:22218070 | 22209726:22209892 | ENSG00000136770.6 | ENST00000476103.1 |
| exon_skip_48227 | 10 | 22208831:22208858:22217434:22217481:22217968:22218070 | 22217434:22217481 | ENSG00000136770.6 | ENST00000447548.1 |
| exon_skip_48229 | 10 | 22209726:22209892:22217434:22217481:22217968:22218070 | 22217434:22217481 | ENSG00000136770.6 | ENST00000376980.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for DNAJC1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_48195 | 10 | 22055189:22055238:22094908:22095028:22171210:22171314 | 22094908:22095028 | ENSG00000136770.6 | ENST00000376980.3 |
| exon_skip_48208 | 10 | 22094908:22095028:22171210:22171368:22193450:22193541 | 22171210:22171368 | ENSG00000136770.6 | ENST00000376980.3 |
| exon_skip_48220 | 10 | 22171210:22171368:22193450:22193541:22207707:22207801 | 22193450:22193541 | ENSG00000136770.6 | ENST00000376980.3 |
| exon_skip_48225 | 10 | 22208831:22208858:22209726:22209892:22217434:22217481 | 22209726:22209892 | ENSG00000136770.6 | ENST00000376980.3 |
| exon_skip_48226 | 10 | 22208831:22208858:22209726:22209892:22217968:22218070 | 22209726:22209892 | ENSG00000136770.6 | ENST00000476103.1 |
| exon_skip_48227 | 10 | 22208831:22208858:22217434:22217481:22217968:22218070 | 22217434:22217481 | ENSG00000136770.6 | ENST00000447548.1 |
| exon_skip_48229 | 10 | 22209726:22209892:22217434:22217481:22217968:22218070 | 22217434:22217481 | ENSG00000136770.6 | ENST00000376980.3 |
| 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 DNAJC1 |
| 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 |
| ENST00000376980 | 22171210 | 22171368 | Frame-shift |
| ENST00000376980 | 22193450 | 22193541 | Frame-shift |
| ENST00000376980 | 22209726 | 22209892 | Frame-shift |
| ENST00000376980 | 22217434 | 22217481 | Frame-shift |
| ENST00000376980 | 22094908 | 22095028 | 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 |
| ENST00000376980 | 22171210 | 22171368 | Frame-shift |
| ENST00000376980 | 22193450 | 22193541 | Frame-shift |
| ENST00000376980 | 22209726 | 22209892 | Frame-shift |
| ENST00000376980 | 22217434 | 22217481 | Frame-shift |
| ENST00000376980 | 22094908 | 22095028 | In-frame |
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Infer the effects of exon skipping event on protein functional features for DNAJC1 |
| 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 |
| ENST00000376980 | 2123 | 554 | 22094908 | 22095028 | 1270 | 1389 | 326 | 366 |
| 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 |
| ENST00000376980 | 2123 | 554 | 22094908 | 22095028 | 1270 | 1389 | 326 | 366 |
| 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 |
| Q96KC8 | 326 | 366 | 48 | 554 | Chain | ID=PRO_0000071042;Note=DnaJ homolog subfamily C member 1 |
| Q96KC8 | 326 | 366 | 325 | 379 | Domain | Note=SANT 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00624 |
| Q96KC8 | 326 | 366 | 332 | 344 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2CQQ |
| Q96KC8 | 326 | 366 | 352 | 360 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2CQQ |
| Q96KC8 | 326 | 366 | 364 | 376 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2CQQ |
| Q96KC8 | 326 | 366 | 175 | 554 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| 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 |
| Q96KC8 | 326 | 366 | 48 | 554 | Chain | ID=PRO_0000071042;Note=DnaJ homolog subfamily C member 1 |
| Q96KC8 | 326 | 366 | 325 | 379 | Domain | Note=SANT 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00624 |
| Q96KC8 | 326 | 366 | 332 | 344 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2CQQ |
| Q96KC8 | 326 | 366 | 352 | 360 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2CQQ |
| Q96KC8 | 326 | 366 | 364 | 376 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2CQQ |
| Q96KC8 | 326 | 366 | 175 | 554 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
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SNVs in the skipped exons for DNAJC1 |
| - 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 |
| COAD | TCGA-AA-3663-01 | exon_skip_48208 | 22171211 | 22171368 | 22171214 | 22171214 | Frame_Shift_Del | T | - | p.Q326fs |
| KIRP | TCGA-BQ-7059-01 | exon_skip_48208 | 22171211 | 22171368 | 22171214 | 22171214 | Frame_Shift_Del | T | - | p.K325fs |
| KIRP | TCGA-BQ-7059-01 | exon_skip_48208 | 22171211 | 22171368 | 22171214 | 22171214 | Frame_Shift_Del | T | - | p.Q326fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_48208 | 22171211 | 22171368 | 22171214 | 22171214 | Frame_Shift_Del | T | - | p.K325fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_48208 | 22171211 | 22171368 | 22171214 | 22171214 | Frame_Shift_Del | T | - | p.K325fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_48220 | 22193451 | 22193541 | 22193508 | 22193508 | Frame_Shift_Del | T | - | p.T255fs |
| KIRC | TCGA-B0-5703-01 | exon_skip_48220 | 22193451 | 22193541 | 22193512 | 22193512 | Frame_Shift_Del | T | - | p.E254fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_48220 | 22193451 | 22193541 | 22193526 | 22193526 | Frame_Shift_Del | A | - | p.Y249fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_48220 | 22193451 | 22193541 | 22193533 | 22193533 | Frame_Shift_Del | C | - | p.G246fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_48227 exon_skip_48229 | 22217435 | 22217481 | 22217469 | 22217469 | Frame_Shift_Del | A | - | p.Y113fs |
| LUSC | TCGA-37-4135-01 | exon_skip_48195 | 22094909 | 22095028 | 22094923 | 22094923 | Nonsense_Mutation | G | A | p.R362* |
| HNSC | TCGA-CR-6481-01 | exon_skip_48225 exon_skip_48226 | 22209727 | 22209892 | 22209807 | 22209807 | Nonsense_Mutation | C | A | p.E153* |
| UCEC | TCGA-B5-A11E-01 | exon_skip_48225 exon_skip_48226 | 22209727 | 22209892 | 22209855 | 22209855 | Nonsense_Mutation | G | A | p.R137* |
| BRCA | TCGA-AR-A1AN-01 | exon_skip_48227 exon_skip_48229 | 22217435 | 22217481 | 22217445 | 22217445 | Nonsense_Mutation | G | A | p.R121* |
| - 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 |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 22171211 | 22171368 | 22171351 | 22171352 | In_Frame_Ins | - | TTTAAC | p.278_279insKV |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 22094909 | 22095028 | 22094945 | 22094945 | Missense_Mutation | T | G | p.E354D |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 22094909 | 22095028 | 22094945 | 22094945 | Missense_Mutation | T | G | p.E354D |
| S117_SOFT_TISSUE | 22094909 | 22095028 | 22094945 | 22094945 | Missense_Mutation | T | G | p.E354D |
| DU145_PROSTATE | 22094909 | 22095028 | 22094952 | 22094952 | Missense_Mutation | C | A | p.R352L |
| SUDHL16_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 22094909 | 22095028 | 22095011 | 22095011 | Missense_Mutation | T | G | p.E332D |
| HCC202_BREAST | 22171211 | 22171368 | 22171221 | 22171221 | Missense_Mutation | T | C | p.Q323R |
| G292CLONEA141B1_BONE | 22171211 | 22171368 | 22171227 | 22171227 | Missense_Mutation | C | T | p.R321Q |
| SW1783_CENTRAL_NERVOUS_SYSTEM | 22171211 | 22171368 | 22171227 | 22171227 | Missense_Mutation | C | T | p.R321Q |
| SNU1040_LARGE_INTESTINE | 22171211 | 22171368 | 22171326 | 22171326 | Missense_Mutation | T | C | p.Y288C |
| SNU61_LARGE_INTESTINE | 22193451 | 22193541 | 22193459 | 22193459 | Missense_Mutation | G | A | p.T271I |
| NCIH64_LUNG | 22209727 | 22209892 | 22209750 | 22209750 | Missense_Mutation | A | C | p.S172A |
| MRKNU1_BREAST | 22209727 | 22209892 | 22209780 | 22209780 | Missense_Mutation | G | A | p.L162F |
| MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 22209727 | 22209892 | 22209830 | 22209830 | Missense_Mutation | C | T | p.R145Q |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 22209727 | 22209892 | 22209882 | 22209882 | Missense_Mutation | T | C | p.I128V |
| SEKI_SKIN | 22209727 | 22209892 | 22209856 | 22209856 | Nonsense_Mutation | C | T | p.W136* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for DNAJC1 |
| 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 DNAJC1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for DNAJC1 |
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RelatedDrugs for DNAJC1 |
| 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 DNAJC1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| DNAJC1 | C0025202 | melanoma | 1 | CTD_human |
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