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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 PARP12 |
 Gene summary |
| Gene information | Gene symbol | PARP12 | Gene ID | 64761 |
| Gene name | poly(ADP-ribose) polymerase family member 12 | |
| Synonyms | ARTD12|MST109|MSTP109|ZC3H1|ZC3HDC1 | |
| Cytomap | 7q34 | |
| Type of gene | protein-coding | |
| Description | poly [ADP-ribose] polymerase 12ADP-ribosyltransferase diphtheria toxin-like 12zinc finger CCCH type domain containing 1 | |
| Modification date | 20180519 | |
| UniProtAcc | Q9H0J9 | |
| Context | PubMed: PARP12 [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 PARP12 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 PARP12 |
| 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 PARP12 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_479774 | 7 | 139726003:139726148:139727075:139727206:139728412:139728488 | 139727075:139727206 | ENSG00000059378.8 | ENST00000473341.1,ENST00000263549.3,ENST00000496624.1,ENST00000488726.1 |
| exon_skip_479777 | 7 | 139726003:139726148:139728412:139728488:139734034:139734131 | 139728412:139728488 | ENSG00000059378.8 | ENST00000491598.1,ENST00000489809.1 |
| exon_skip_479783 | 7 | 139728412:139728488:139734034:139734131:139737514:139737656 | 139734034:139734131 | ENSG00000059378.8 | ENST00000263549.3,ENST00000491598.1,ENST00000488726.1 |
| exon_skip_479784 | 7 | 139728412:139728488:139734034:139734131:139741443:139741528 | 139734034:139734131 | ENSG00000059378.8 | ENST00000473341.1 |
| exon_skip_479786 | 7 | 139728412:139728488:139734034:139734131:139754461:139754522 | 139734034:139734131 | ENSG00000059378.8 | ENST00000489809.1 |
| exon_skip_479796 | 7 | 139734034:139734131:139737514:139737656:139741443:139741528 | 139737514:139737656 | ENSG00000059378.8 | ENST00000263549.3,ENST00000470515.1,ENST00000488726.1 |
| exon_skip_479798 | 7 | 139734034:139734131:139737514:139737656:139754461:139754522 | 139737514:139737656 | ENSG00000059378.8 | ENST00000491598.1 |
| exon_skip_479804 | 7 | 139734034:139734131:139741443:139741639:139746683:139746807 | 139741443:139741639 | ENSG00000059378.8 | ENST00000473341.1 |
| exon_skip_479809 | 7 | 139737514:139737656:139741443:139741639:139746683:139746807 | 139741443:139741639 | ENSG00000059378.8 | ENST00000263549.3,ENST00000488726.1 |
| exon_skip_479814 | 7 | 139741443:139741639:139746683:139746807:139754461:139754522 | 139746683:139746807 | ENSG00000059378.8 | ENST00000493262.1,ENST00000473341.1,ENST00000263549.3,ENST00000488726.1 |
| exon_skip_479823 | 7 | 139756655:139756953:139757698:139757834:139762321:139762351 | 139757698:139757834 | ENSG00000059378.8 | ENST00000473341.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for PARP12 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_479774 | 7 | 139726003:139726148:139727075:139727206:139728412:139728488 | 139727075:139727206 | ENSG00000059378.8 | ENST00000263549.3,ENST00000473341.1,ENST00000488726.1,ENST00000496624.1 |
| exon_skip_479777 | 7 | 139726003:139726148:139728412:139728488:139734034:139734131 | 139728412:139728488 | ENSG00000059378.8 | ENST00000489809.1,ENST00000491598.1 |
| exon_skip_479783 | 7 | 139728412:139728488:139734034:139734131:139737514:139737656 | 139734034:139734131 | ENSG00000059378.8 | ENST00000263549.3,ENST00000488726.1,ENST00000491598.1 |
| exon_skip_479784 | 7 | 139728412:139728488:139734034:139734131:139741443:139741528 | 139734034:139734131 | ENSG00000059378.8 | ENST00000473341.1 |
| exon_skip_479786 | 7 | 139728412:139728488:139734034:139734131:139754461:139754522 | 139734034:139734131 | ENSG00000059378.8 | ENST00000489809.1 |
| exon_skip_479796 | 7 | 139734034:139734131:139737514:139737656:139741443:139741528 | 139737514:139737656 | ENSG00000059378.8 | ENST00000263549.3,ENST00000488726.1,ENST00000470515.1 |
| exon_skip_479798 | 7 | 139734034:139734131:139737514:139737656:139754461:139754522 | 139737514:139737656 | ENSG00000059378.8 | ENST00000491598.1 |
| exon_skip_479804 | 7 | 139734034:139734131:139741443:139741639:139746683:139746807 | 139741443:139741639 | ENSG00000059378.8 | ENST00000473341.1 |
| exon_skip_479809 | 7 | 139737514:139737656:139741443:139741639:139746683:139746807 | 139741443:139741639 | ENSG00000059378.8 | ENST00000263549.3,ENST00000488726.1 |
| exon_skip_479814 | 7 | 139741443:139741639:139746683:139746807:139754461:139754522 | 139746683:139746807 | ENSG00000059378.8 | ENST00000263549.3,ENST00000473341.1,ENST00000488726.1,ENST00000493262.1 |
| exon_skip_479823 | 7 | 139756655:139756953:139757698:139757834:139762321:139762351 | 139757698:139757834 | ENSG00000059378.8 | ENST00000473341.1 |
| 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 PARP12 |
| 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 |
| ENST00000263549 | 139727075 | 139727206 | Frame-shift |
| ENST00000263549 | 139734034 | 139734131 | Frame-shift |
| ENST00000263549 | 139737514 | 139737656 | Frame-shift |
| ENST00000263549 | 139741443 | 139741639 | Frame-shift |
| ENST00000263549 | 139746683 | 139746807 | 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 |
| ENST00000263549 | 139727075 | 139727206 | Frame-shift |
| ENST00000263549 | 139734034 | 139734131 | Frame-shift |
| ENST00000263549 | 139737514 | 139737656 | Frame-shift |
| ENST00000263549 | 139741443 | 139741639 | Frame-shift |
| ENST00000263549 | 139746683 | 139746807 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for PARP12 |
| 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 PARP12 |
| - 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. |
PARP12_PAAD_exon_skip_479774_psi_boxplot.png |
PARP12_SKCM_exon_skip_479774_psi_boxplot.png |
| - 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_479777 | 139728413 | 139728488 | 139728468 | 139728468 | Frame_Shift_Del | G | - | p.P481fs |
| COAD | TCGA-G4-6628-01 | exon_skip_479783 exon_skip_479786 exon_skip_479784 | 139734035 | 139734131 | 139734092 | 139734092 | Frame_Shift_Del | T | - | p.K455fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_479823 | 139757699 | 139757834 | 139757714 | 139757714 | Frame_Shift_Del | G | - | p.P149fs |
| HNSC | TCGA-CV-6936-01 | exon_skip_479774 | 139727076 | 139727206 | 139727113 | 139727113 | Nonsense_Mutation | G | A | p.R531* |
| PAAD | TCGA-IB-7651-01 | exon_skip_479774 | 139727076 | 139727206 | 139727113 | 139727113 | Nonsense_Mutation | G | A | p.R531* |
| PAAD | TCGA-IB-7651-01 | exon_skip_479774 | 139727076 | 139727206 | 139727113 | 139727113 | Nonsense_Mutation | G | A | p.R531X |
| STAD | TCGA-BR-8487-01 | exon_skip_479804 exon_skip_479809 | 139741444 | 139741639 | 139741630 | 139741630 | Nonsense_Mutation | G | T | p.C332* |
| ESCA | TCGA-VR-AA7I-01A-11D-A403-09 | exon_skip_479814 | 139746684 | 139746807 | 139746766 | 139746766 | Nonsense_Mutation | G | A | p.Q302* |
| SKCM | TCGA-EE-A181-06 | exon_skip_479774 | 139727076 | 139727206 | 139727207 | 139727207 | Splice_Site | C | T | . |
| OV | TCGA-61-2097-01 | exon_skip_479814 | 139746684 | 139746807 | 139746809 | 139746809 | Splice_Site | T | A | p.D288_splice |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-EE-A181-06 |
| Cancer type: SKCM | |
| ESID: exon_skip_479774 | |
| Skipped exon start: 139727076 | |
| Skipped exon end: 139727206 | |
| Mutation start: 139727207 | |
| Mutation end: 139727207 | |
| Mutation type: Splice_Site | |
| Reference seq: C | |
| Mutation seq: T | |
| AAchange: . | |
exon_skip_284772_SKCM_TCGA-EE-A181-06.png | |
exon_skip_330962_SKCM_TCGA-EE-A181-06.png | |
exon_skip_330963_SKCM_TCGA-EE-A181-06.png | |
exon_skip_479774_SKCM_TCGA-EE-A181-06.png | |
exon_skip_83997_SKCM_TCGA-EE-A181-06.png | |
| - 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 |
| LNCAPCLONEFGC_PROSTATE | 139727076 | 139727206 | 139727101 | 139727101 | Missense_Mutation | G | T | p.L535M |
| SNU1040_LARGE_INTESTINE | 139728413 | 139728488 | 139728446 | 139728446 | Missense_Mutation | C | A | p.W488C |
| NCIH740_LUNG | 139728413 | 139728488 | 139728450 | 139728450 | Missense_Mutation | T | C | p.Y487C |
| LN235_CENTRAL_NERVOUS_SYSTEM | 139734035 | 139734131 | 139734057 | 139734057 | Missense_Mutation | C | T | p.D467N |
| CORL321_PLEURA | 139737515 | 139737656 | 139737523 | 139737523 | Missense_Mutation | T | C | p.D439G |
| 769P_KIDNEY | 139737515 | 139737656 | 139737540 | 139737540 | Missense_Mutation | C | G | p.K433N |
| EMCBAC1_LUNG | 139737515 | 139737656 | 139737650 | 139737650 | Missense_Mutation | C | A | p.V397L |
| AGS_STOMACH | 139741444 | 139741639 | 139741475 | 139741475 | Missense_Mutation | T | G | p.E384A |
| NCIH513_PLEURA | 139741444 | 139741639 | 139741561 | 139741561 | Missense_Mutation | C | A | p.Q355H |
| HEC108_ENDOMETRIUM | 139741444 | 139741639 | 139741572 | 139741572 | Missense_Mutation | C | T | p.G352S |
| LS411N_LARGE_INTESTINE | 139741444 | 139741639 | 139741620 | 139741620 | Missense_Mutation | C | T | p.A336T |
| DG75_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 139746684 | 139746807 | 139746702 | 139746702 | Missense_Mutation | C | T | p.C323Y |
| SNU869_BILIARY_TRACT | 139746684 | 139746807 | 139746777 | 139746777 | Missense_Mutation | G | A | p.P298L |
| CW9019_SOFT_TISSUE | 139757699 | 139757834 | 139757722 | 139757722 | Missense_Mutation | T | A | p.N147Y |
| KYSE30_OESOPHAGUS | 139757699 | 139757834 | 139757779 | 139757779 | Missense_Mutation | T | C | p.R128G |
| LU65_LUNG | 139757699 | 139757834 | 139757805 | 139757805 | Missense_Mutation | G | A | p.T119I |
| RCC10RGB_KIDNEY | 139757699 | 139757834 | 139757805 | 139757805 | Missense_Mutation | G | A | p.T119I |
| RPMI7951_SKIN | 139757699 | 139757834 | 139757817 | 139757817 | Missense_Mutation | C | A | p.S115I |
| SW684_SOFT_TISSUE | 139741444 | 139741639 | 139741483 | 139741483 | Nonsense_Mutation | C | T | p.W381* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PARP12 |
| 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 |
| exon_skip_479774 | 7 | 139726003:139726148:139727075:139727206:139728412:139728488 | 139727075:139727206 | ENST00000473341.1,ENST00000263549.3,ENST00000496624.1,ENST00000488726.1 | BRCA | rs2286196 | chr7:139727135 | A/G | 2.59e-05 |
| exon_skip_479774 | 7 | 139726003:139726148:139727075:139727206:139728412:139728488 | 139727075:139727206 | ENST00000473341.1,ENST00000263549.3,ENST00000496624.1,ENST00000488726.1 | KIRC | rs2286196 | chr7:139727135 | A/G | 6.21e-10 |
| exon_skip_479774 | 7 | 139726003:139726148:139727075:139727206:139728412:139728488 | 139727075:139727206 | ENST00000473341.1,ENST00000263549.3,ENST00000496624.1,ENST00000488726.1 | LUAD | rs2286196 | chr7:139727135 | A/G | 1.97e-04 |
| exon_skip_479774 | 7 | 139726003:139726148:139727075:139727206:139728412:139728488 | 139727075:139727206 | ENST00000473341.1,ENST00000263549.3,ENST00000496624.1,ENST00000488726.1 | LUSC | rs2286196 | chr7:139727135 | A/G | 8.57e-08 |
| exon_skip_479774 | 7 | 139726003:139726148:139727075:139727206:139728412:139728488 | 139727075:139727206 | ENST00000473341.1,ENST00000263549.3,ENST00000496624.1,ENST00000488726.1 | OV | rs2286196 | chr7:139727135 | A/G | 5.21e-04 |
| exon_skip_479774 | 7 | 139726003:139726148:139727075:139727206:139728412:139728488 | 139727075:139727206 | ENST00000473341.1,ENST00000263549.3,ENST00000496624.1,ENST00000488726.1 | PAAD | rs2286196 | chr7:139727135 | A/G | 1.47e-04 |
| exon_skip_479774 | 7 | 139726003:139726148:139727075:139727206:139728412:139728488 | 139727075:139727206 | ENST00000473341.1,ENST00000263549.3,ENST00000496624.1,ENST00000488726.1 | THCA | rs2286196 | chr7:139727135 | A/G | 1.21e-05 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PARP12 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PARP12 |
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RelatedDrugs for PARP12 |
| 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 PARP12 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| PARP12 | C0021400 | Influenza | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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