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| Open reading frame (ORF) annotation in the exon skipping event |
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| 3'-UTR located exon skipping events lost miRNA binding sites |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
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Gene summary for DNAJC6 |
 Gene summary |
| Gene information | Gene symbol | DNAJC6 | Gene ID | 9829 |
| Gene name | DnaJ heat shock protein family (Hsp40) member C6 | |
| Synonyms | DJC6|PARK19 | |
| Cytomap | 1p31.3 | |
| Type of gene | protein-coding | |
| Description | putative tyrosine-protein phosphatase auxilinDnaJ (Hsp40) homolog, subfamily B, member 6DnaJ (Hsp40) homolog, subfamily C, member 6auxilin | |
| Modification date | 20200313 | |
| UniProtAcc | ||
| Context | - 30133257(Modulation of Heat Shock Response Proteins by ASS234, Targeted for Neurodegenerative Diseases Therapy) |
| 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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Gene structures and expression levels for DNAJC6 |
| Skipped exons in the ROSMAP, MSBB, and Mayo 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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ENSG00000116675
| Differentially expressed gene analysis across multiple brain tissues between AD and control. |
| Tissue type | DEG direction | Base mean exp. | log2FC(AD/control) | P-value | Adj. p-value |
| Differentially expressed isoform analysis across multiple brain tissues between AD and control. |
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| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| PG | UP | ENST00000463018.5 | DNAJC6-204:lncRNA:DNAJC6 | 1.070180e+02 | 8.036724e-01 | 3.148970e-03 | 3.292663e-02 |
| CB | UP | ENST00000371069.5 | DNAJC6-202:protein_coding:DNAJC6 | 1.234511e+03 | 8.363329e-01 | 1.286568e-07 | 2.631622e-06 |
| CB | UP | ENST00000494710.6 | DNAJC6-207:protein_coding:DNAJC6 | 1.222491e+02 | 9.007407e-01 | 1.488693e-05 | 1.477066e-04 |
| Landscape of isoform expressions across multiple brain tissues between AD and control. |
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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for DNAJC6 |
| Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
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| All exon skipping events in AD cohorts. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
| exon_skip_139987 | chr1 | 65264764:65264932:65364635:65364785:65365885:65365934 | 65364635:65364785 |
| exon_skip_144187 | chr1 | 65384193:65384326:65385712:65385906:65386812:65386929 | 65385712:65385906 |
| exon_skip_150437 | chr1 | 65264850:65264932:65345611:65345723:65364635:65364761 | 65345611:65345723 |
| exon_skip_188091 | chr1 | 65309543:65309938:65364635:65364785:65365885:65365934 | 65364635:65364785 |
| exon_skip_19913 | chr1 | 65345611:65345723:65364635:65364785:65365885:65365934 | 65364635:65364785 |
| exon_skip_215930 | chr1 | 65264764:65264932:65345611:65345723:65364635:65364761 | 65345611:65345723 |
| exon_skip_256994 | chr1 | 65366065:65366196:65379402:65379524:65384193:65384326 | 65379402:65379524 |
| exon_skip_280146 | chr1 | 65254462:65254649:65364635:65364785:65365885:65365934 | 65364635:65364785 |
| Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
| Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
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Open reading frame (ORF) annotation in the exon skipping event for DNAJC6 |
| Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000395325 | 65364635 | 65364785 | Frame-shift |
| ENST00000395325 | 65379402 | 65379524 | In-frame |
| ENST00000395325 | 65385712 | 65385906 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000395325 | 65364635 | 65364785 | Frame-shift |
| ENST00000395325 | 65379402 | 65379524 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000395325 | 65364635 | 65364785 | Frame-shift |
| ENST00000395325 | 65379402 | 65379524 | In-frame |
| ENST00000395325 | 65385712 | 65385906 | In-frame |
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Infer the effects of exon skipping event on protein functional features for DNAJC6 |
p-ENSG00000116675_img4.png |
| Loci of skipped exons in ROSMAP 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 |
| ENST00000395325 | 5760 | 913 | 65379402 | 65379524 | 531 | 652 | 124 | 165 |
| ENST00000395325 | 5760 | 913 | 65385712 | 65385906 | 788 | 981 | 210 | 274 |
| Loci of skipped exons in MSBB 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 |
| ENST00000395325 | 5760 | 913 | 65379402 | 65379524 | 531 | 652 | 124 | 165 |
| Loci of skipped exons in Mayo 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 |
| ENST00000395325 | 5760 | 913 | 65379402 | 65379524 | 531 | 652 | 124 | 165 |
| ENST00000395325 | 5760 | 913 | 65385712 | 65385906 | 788 | 981 | 210 | 274 |
| Lost protein functional features of individual exon skipping events in ROSMAP. |
| 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 |
| O75061 | 124 | 165 | 164 | 164 | Active site | Note=Phosphocysteine intermediate;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00590 |
| O75061 | 124 | 165 | 1 | 913 | Chain | ID=PRO_0000244516;Note=Putative tyrosine-protein phosphatase auxilin |
| O75061 | 124 | 165 | 55 | 222 | Domain | Note=Phosphatase tensin-type;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00590 |
| O75061 | 124 | 165 | 152 | 152 | Natural variant | ID=VAR_077925;Note=L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26528954;Dbxref=PMID:26528954 |
| O75061 | 210 | 274 | 1 | 913 | Chain | ID=PRO_0000244516;Note=Putative tyrosine-protein phosphatase auxilin |
| O75061 | 210 | 274 | 55 | 222 | Domain | Note=Phosphatase tensin-type;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00590 |
| O75061 | 210 | 274 | 228 | 366 | Domain | Note=C2 tensin-type;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00589 |
| O75061 | 210 | 274 | 264 | 264 | Natural variant | ID=VAR_077926;Note=I->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26528954;Dbxref=PMID:26528954 |
| Lost protein functional features of individual exon skipping events in MSBB. |
| 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 |
| O75061 | 124 | 165 | 164 | 164 | Active site | Note=Phosphocysteine intermediate;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00590 |
| O75061 | 124 | 165 | 1 | 913 | Chain | ID=PRO_0000244516;Note=Putative tyrosine-protein phosphatase auxilin |
| O75061 | 124 | 165 | 55 | 222 | Domain | Note=Phosphatase tensin-type;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00590 |
| O75061 | 124 | 165 | 152 | 152 | Natural variant | ID=VAR_077925;Note=L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26528954;Dbxref=PMID:26528954 |
| Lost protein functional features of individual exon skipping events in Mayo. |
| 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 |
| O75061 | 124 | 165 | 164 | 164 | Active site | Note=Phosphocysteine intermediate;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00590 |
| O75061 | 124 | 165 | 1 | 913 | Chain | ID=PRO_0000244516;Note=Putative tyrosine-protein phosphatase auxilin |
| O75061 | 124 | 165 | 55 | 222 | Domain | Note=Phosphatase tensin-type;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00590 |
| O75061 | 124 | 165 | 152 | 152 | Natural variant | ID=VAR_077925;Note=L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26528954;Dbxref=PMID:26528954 |
| O75061 | 210 | 274 | 1 | 913 | Chain | ID=PRO_0000244516;Note=Putative tyrosine-protein phosphatase auxilin |
| O75061 | 210 | 274 | 55 | 222 | Domain | Note=Phosphatase tensin-type;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00590 |
| O75061 | 210 | 274 | 228 | 366 | Domain | Note=C2 tensin-type;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00589 |
| O75061 | 210 | 274 | 264 | 264 | Natural variant | ID=VAR_077926;Note=I->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26528954;Dbxref=PMID:26528954 |
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3'-UTR located exon skipping events that lost miRNA binding sites in DNAJC6 |
| 3'-UTR exon skipping evnets lost miRNA binding. |
| Tissue type | ENST | Exon skip start | Exon skip end | microRNA | Binding site by TargetScan | Binding type by TargetScan | Bdinding site by miRanda | Score of miRanda | Energy by miRanda |
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SNVs in the skipped exons for DNAJC6 |
| - Differential PSIs between mutated versus non-mutated samples. |
| - Depth of Coverage in the skipped exon of the mutated samples. |
| - Sashimi plot in the skipped exon of the mutated samples. |
| - Non-synonymous mutations located in the skipped exons. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| - 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 |
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AD stage-associated exon skippint events for DNAJC6 |
| Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR). |
| AD stage info | Cohort | Tissue | SE id | Coefficient | P-value | Chromosome | Strand | E1 start | E1 end | Skipped start | Skipped end | E2 start | E2 end |
| ADstage | MSBB | IFG | exon_skip_226209 | -4.895270e-01 | 8.194731e-03 | chr1 | + | 65254462 | 65254649 | 65345611 | 65345723 | 65364635 | 65364761 |
| CDR | MSBB | IFG | exon_skip_226209 | -5.196555e-01 | 4.595178e-03 | chr1 | + | 65254462 | 65254649 | 65345611 | 65345723 | 65364635 | 65364761 |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for DNAJC6 |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
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Correlation with RNA binding proteins (RBPs) for DNAJC6 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| IFG | RBM6 | exon_skip_226209 | -4.987688e-01 | 6.899596e-03 |
| IFG | ILF2 | exon_skip_226209 | 4.509002e-01 | 1.603364e-02 |
| IFG | HNRNPC | exon_skip_226209 | 4.242149e-01 | 2.445868e-02 |
| IFG | ESRP2 | exon_skip_226209 | -4.501411e-01 | 1.623468e-02 |
| IFG | ELAVL4 | exon_skip_215930 | 4.169260e-01 | 3.050154e-02 |
| IFG | RALYL | exon_skip_215930 | 5.968786e-01 | 1.014050e-03 |
| STG | ILF2 | exon_skip_226209 | 4.056423e-01 | 6.635319e-05 |
| STG | HNRNPK | exon_skip_226209 | 4.578876e-01 | 5.029296e-06 |
| STG | HNRNPC | exon_skip_226209 | 4.265185e-01 | 2.490060e-05 |
| STG | RALYL | exon_skip_226209 | 4.343174e-01 | 1.697667e-05 |
| STG | EIF4B | exon_skip_226209 | 4.119070e-01 | 4.978152e-05 |
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RelatedDrugs for DNAJC6 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for DNAJC6 |
| 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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