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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 DLC1 |
 Gene summary |
| Gene information | Gene symbol | DLC1 | Gene ID | 10395 |
| Gene name | DLC1 Rho GTPase activating protein | |
| Synonyms | ARHGAP7|HP|STARD12|p122-RhoGAP | |
| Cytomap | 8p22 | |
| Type of gene | protein-coding | |
| Description | rho GTPase-activating protein 7Rho-GTPase-activating protein 7START domain-containing protein 12StAR-related lipid transfer (START) domain containing 12deleted in liver cancer 1 proteindeleted in liver cancer 1 variant 2deleted in liver cancer varia | |
| Modification date | 20180519 | |
| UniProtAcc | Q96QB1 | |
| Context | PubMed: DLC1 [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 |
| DLC1 | GO:0006915 | apoptotic process | 17292327 |
| DLC1 | GO:0006919 | activation of cysteine-type endopeptidase activity involved in apoptotic process | 17888903 |
| DLC1 | GO:0008285 | negative regulation of cell proliferation | 12545165|17932950 |
| DLC1 | GO:0030336 | negative regulation of cell migration | 17932950|19158340 |
| DLC1 | GO:0035307 | positive regulation of protein dephosphorylation | 17292327 |
| DLC1 | GO:0051497 | negative regulation of stress fiber assembly | 17932950 |
| DLC1 | GO:0051895 | negative regulation of focal adhesion assembly | 19158340 |
| DLC1 | GO:1900119 | positive regulation of execution phase of apoptosis | 17888903 |
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Exon skipping events across known transcript of Ensembl for DLC1 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 DLC1 |
| 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 DLC1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_488323 | 8 | 12943323:12943440:12943798:12943972:12945995:12946213 | 12943798:12943972 | ENSG00000164741.10 | ENST00000276297.4,ENST00000510318.1,ENST00000512044.2,ENST00000520226.1,ENST00000358919.2 |
| exon_skip_488324 | 8 | 12943798:12943972:12945995:12946213:12947760:12947979 | 12945995:12946213 | ENSG00000164741.10 | ENST00000276297.4,ENST00000510318.1,ENST00000512044.2,ENST00000520226.1,ENST00000358919.2 |
| exon_skip_488326 | 8 | 12945995:12946213:12947760:12947979:12948826:12948941 | 12947760:12947979 | ENSG00000164741.10 | ENST00000276297.4,ENST00000510318.1,ENST00000512044.2,ENST00000520226.1,ENST00000358919.2 |
| exon_skip_488327 | 8 | 12947760:12947979:12948826:12948941:12950120:12950334 | 12948826:12948941 | ENSG00000164741.10 | ENST00000276297.4,ENST00000510318.1,ENST00000512044.2,ENST00000520226.1,ENST00000358919.2 |
| exon_skip_488328 | 8 | 12948826:12948941:12950120:12950334:12952267:12952466 | 12950120:12950334 | ENSG00000164741.10 | ENST00000276297.4,ENST00000510318.1,ENST00000512044.2,ENST00000520226.1,ENST00000358919.2 |
| exon_skip_488329 | 8 | 12958197:12958279:12960298:12960362:12968250:12968332 | 12960298:12960362 | ENSG00000164741.10 | ENST00000276297.4,ENST00000503161.2,ENST00000512044.2,ENST00000520226.1,ENST00000358919.2 |
| exon_skip_488331 | 8 | 12960298:12960362:12968250:12968332:12973094:12973166 | 12968250:12968332 | ENSG00000164741.10 | ENST00000276297.4,ENST00000503161.2,ENST00000512044.2,ENST00000520226.1,ENST00000358919.2 |
| exon_skip_488333 | 8 | 13251061:13251202:13258978:13259128:13356557:13357705 | 13258978:13259128 | ENSG00000164741.10 | ENST00000276297.4,ENST00000511869.1,ENST00000316609.5 |
| exon_skip_488334 | 8 | 13258978:13259128:13356557:13357705:13372110:13372274 | 13356557:13357705 | ENSG00000164741.10 | ENST00000511869.1,ENST00000316609.5 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for DLC1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_488323 | 8 | 12943323:12943440:12943798:12943972:12945995:12946213 | 12943798:12943972 | ENSG00000164741.10 | ENST00000276297.4,ENST00000358919.2,ENST00000510318.1,ENST00000512044.2,ENST00000520226.1 |
| exon_skip_488324 | 8 | 12943798:12943972:12945995:12946213:12947760:12947979 | 12945995:12946213 | ENSG00000164741.10 | ENST00000276297.4,ENST00000358919.2,ENST00000510318.1,ENST00000512044.2,ENST00000520226.1 |
| exon_skip_488326 | 8 | 12945995:12946213:12947760:12947979:12948826:12948941 | 12947760:12947979 | ENSG00000164741.10 | ENST00000276297.4,ENST00000358919.2,ENST00000510318.1,ENST00000512044.2,ENST00000520226.1 |
| exon_skip_488327 | 8 | 12947760:12947979:12948826:12948941:12950120:12950334 | 12948826:12948941 | ENSG00000164741.10 | ENST00000276297.4,ENST00000358919.2,ENST00000510318.1,ENST00000512044.2,ENST00000520226.1 |
| exon_skip_488328 | 8 | 12948826:12948941:12950120:12950334:12952267:12952466 | 12950120:12950334 | ENSG00000164741.10 | ENST00000276297.4,ENST00000358919.2,ENST00000510318.1,ENST00000512044.2,ENST00000520226.1 |
| exon_skip_488329 | 8 | 12958197:12958279:12960298:12960362:12968250:12968332 | 12960298:12960362 | ENSG00000164741.10 | ENST00000276297.4,ENST00000358919.2,ENST00000512044.2,ENST00000520226.1,ENST00000503161.2 |
| exon_skip_488331 | 8 | 12960298:12960362:12968250:12968332:12973094:12973166 | 12968250:12968332 | ENSG00000164741.10 | ENST00000276297.4,ENST00000358919.2,ENST00000512044.2,ENST00000520226.1,ENST00000503161.2 |
| exon_skip_488333 | 8 | 13251061:13251202:13258978:13259128:13356557:13357705 | 13258978:13259128 | ENSG00000164741.10 | ENST00000276297.4,ENST00000316609.5,ENST00000511869.1 |
| exon_skip_488334 | 8 | 13258978:13259128:13356557:13357705:13372110:13372274 | 13356557:13357705 | ENSG00000164741.10 | ENST00000316609.5,ENST00000511869.1 |
| 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 DLC1 |
| 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 |
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Infer the effects of exon skipping event on protein functional features for DLC1 |
| 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 DLC1 |
| - 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 |
| SKCM | TCGA-FS-A4F9-06 | exon_skip_488323 | 12943799 | 12943972 | 12943882 | 12943882 | Frame_Shift_Del | A | - | p.N1025fs |
| SKCM | TCGA-FS-A4F9-06 | exon_skip_488323 | 12943799 | 12943972 | 12943882 | 12943882 | Frame_Shift_Del | A | - | p.V1461fs |
| ACC | TCGA-OR-A5JM-01 | exon_skip_488323 | 12943799 | 12943972 | 12943918 | 12943919 | Frame_Shift_Del | CA | - | p.1449_1450del |
| ACC | TCGA-OR-A5JM-01 | exon_skip_488323 | 12943799 | 12943972 | 12943918 | 12943919 | Frame_Shift_Del | CA | - | p.V1449fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_488324 | 12945996 | 12946213 | 12945999 | 12945999 | Frame_Shift_Del | A | - | p.L1430fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_488324 | 12945996 | 12946213 | 12946063 | 12946063 | Frame_Shift_Del | T | - | p.T1409fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_488324 | 12945996 | 12946213 | 12946078 | 12946078 | Frame_Shift_Del | T | - | p.I1404fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_488329 | 12960299 | 12960362 | 12960302 | 12960302 | Frame_Shift_Del | T | - | p.K521fs |
| COAD | TCGA-A6-5661-01 | exon_skip_488331 | 12968251 | 12968332 | 12968281 | 12968281 | Frame_Shift_Del | A | - | p.L54fs |
| SKCM | TCGA-EE-A2GC-06 | exon_skip_488331 | 12968251 | 12968332 | 12968281 | 12968281 | Frame_Shift_Del | A | - | p.L491fs |
| SKCM | TCGA-EE-A2GC-06 | exon_skip_488331 | 12968251 | 12968332 | 12968281 | 12968281 | Frame_Shift_Del | A | - | p.L54fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_488334 | 13356558 | 13357705 | 13356655 | 13356655 | Frame_Shift_Del | T | - | p.K309fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_488334 | 13356558 | 13357705 | 13356726 | 13356726 | Frame_Shift_Del | G | - | p.P285fs |
| LUAD | TCGA-44-5644-01 | exon_skip_488334 | 13356558 | 13357705 | 13356745 | 13356746 | Frame_Shift_Del | AG | - | p.L279fs |
| LUAD | TCGA-55-A490-01 | exon_skip_488334 | 13356558 | 13357705 | 13356906 | 13356906 | Frame_Shift_Del | C | - | p.L226fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_488334 | 13356558 | 13357705 | 13357043 | 13357043 | Frame_Shift_Del | C | - | p.E180fs |
| UCEC | TCGA-BS-A0TA-01 | exon_skip_488334 | 13356558 | 13357705 | 13357046 | 13357047 | Frame_Shift_Del | CA | - | p.S178fs |
| TGCT | TCGA-2G-AAGJ-01 | exon_skip_488334 | 13356558 | 13357705 | 13357185 | 13357185 | Frame_Shift_Del | C | - | p.G132fs |
| SKCM | TCGA-ER-A3EV-06 | exon_skip_488324 | 12945996 | 12946213 | 12946210 | 12946211 | Frame_Shift_Ins | - | CA | p.R1360fs |
| SKCM | TCGA-ER-A3EV-06 | exon_skip_488324 | 12945996 | 12946213 | 12946210 | 12946211 | Frame_Shift_Ins | - | CA | p.S923_E924delinsX |
| COAD | TCGA-A6-5665-01 | exon_skip_488334 | 13356558 | 13357705 | 13356725 | 13356726 | Frame_Shift_Ins | - | G | p.N286fs |
| ESCA | TCGA-VR-A8EQ-01 | exon_skip_488326 | 12947761 | 12947979 | 12947789 | 12947789 | Nonsense_Mutation | G | T | p.S1349* |
| ESCA | TCGA-VR-A8EQ-01 | exon_skip_488326 | 12947761 | 12947979 | 12947789 | 12947789 | Nonsense_Mutation | G | T | p.S1349X |
| UCEC | TCGA-AX-A05Z-01 | exon_skip_488333 | 13258979 | 13259128 | 13259113 | 13259113 | Nonsense_Mutation | G | A | p.R347* |
| CESC | TCGA-DG-A2KM-01 | exon_skip_488334 | 13356558 | 13357705 | 13356682 | 13356682 | Nonsense_Mutation | G | C | p.S300* |
| COAD | TCGA-AZ-6599-01 | exon_skip_488334 | 13356558 | 13357705 | 13356743 | 13356743 | Nonsense_Mutation | G | A | p.Q280X |
| ESCA | TCGA-V5-AASV-01 | exon_skip_488334 | 13356558 | 13357705 | 13357530 | 13357530 | Nonsense_Mutation | C | T | p.W17* |
| ESCA | TCGA-V5-AASV-01 | exon_skip_488334 | 13356558 | 13357705 | 13357530 | 13357530 | Nonsense_Mutation | C | T | p.W17X |
| READ | TCGA-AG-3583-01 | exon_skip_488327 | 12948827 | 12948941 | 12948826 | 12948826 | Splice_Site | C | T | . |
| - 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 |
| UMUC1_URINARY_TRACT | 12943799 | 12943972 | 12943834 | 12943835 | Frame_Shift_Del | TT | - | p.K1477fs |
| LS180_LARGE_INTESTINE | 12943799 | 12943972 | 12943816 | 12943816 | Missense_Mutation | C | T | p.M1483I |
| HCC2998_LARGE_INTESTINE | 12943799 | 12943972 | 12943908 | 12943908 | Missense_Mutation | G | A | p.R1453C |
| PC9_LUNG | 12945996 | 12946213 | 12946000 | 12946000 | Missense_Mutation | A | T | p.L1430I |
| NCIH441_LUNG | 12945996 | 12946213 | 12946018 | 12946018 | Missense_Mutation | C | A | p.A1424S |
| SW684_SOFT_TISSUE | 12945996 | 12946213 | 12946020 | 12946020 | Missense_Mutation | G | A | p.P1423L |
| KMM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 12945996 | 12946213 | 12946024 | 12946024 | Missense_Mutation | G | A | p.H1422Y |
| SNU1040_LARGE_INTESTINE | 12945996 | 12946213 | 12946107 | 12946107 | Missense_Mutation | A | G | p.V1394A |
| MDAMB435S_SKIN | 12947761 | 12947979 | 12947792 | 12947792 | Missense_Mutation | G | A | p.T1348I |
| NCIH69_LUNG | 12947761 | 12947979 | 12947904 | 12947904 | Missense_Mutation | C | G | p.G1311R |
| YD38_UPPER_AERODIGESTIVE_TRACT | 12947761 | 12947979 | 12947973 | 12947973 | Missense_Mutation | C | T | p.E1288K |
| WSUNHL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 12947761 | 12947979 | 12947976 | 12947976 | Missense_Mutation | G | A | p.P1287S |
| DEL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 12948827 | 12948941 | 12948843 | 12948843 | Missense_Mutation | C | T | p.C1280Y |
| DMS454_LUNG | 12948827 | 12948941 | 12948868 | 12948868 | Missense_Mutation | C | T | p.G1272R |
| LS1034_MATCHED_NORMAL_TISSUE | 12950121 | 12950334 | 12950132 | 12950132 | Missense_Mutation | A | T | p.N1243K |
| HCT15_LARGE_INTESTINE | 12950121 | 12950334 | 12950301 | 12950301 | Missense_Mutation | T | G | p.K1187T |
| HRT18_LARGE_INTESTINE | 12950121 | 12950334 | 12950301 | 12950301 | Missense_Mutation | T | G | p.K1187T |
| KM12_LARGE_INTESTINE | 12950121 | 12950334 | 12950307 | 12950307 | Missense_Mutation | G | A | p.A1185V |
| SW684_SOFT_TISSUE | 13258979 | 13259128 | 13259005 | 13259005 | Missense_Mutation | G | A | p.P383S |
| TE15_OESOPHAGUS | 13258979 | 13259128 | 13259101 | 13259101 | Missense_Mutation | G | A | p.R351W |
| BICR31_UPPER_AERODIGESTIVE_TRACT | 13258979 | 13259128 | 13259105 | 13259105 | Missense_Mutation | C | A | p.R349S |
| NCIH720_LUNG | 13258979 | 13259128 | 13259108 | 13259108 | Missense_Mutation | A | T | p.D348E |
| RERFLCMS_LUNG | 13356558 | 13357705 | 13356568 | 13356568 | Missense_Mutation | C | T | p.R338H |
| HT115_LARGE_INTESTINE | 13356558 | 13357705 | 13356569 | 13356569 | Missense_Mutation | G | A | p.R338C |
| JSC1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 13356558 | 13357705 | 13356644 | 13356644 | Missense_Mutation | C | T | p.E313K |
| SU8686_PANCREAS | 13356558 | 13357705 | 13356673 | 13356673 | Missense_Mutation | T | C | p.Q303R |
| MDST8_LARGE_INTESTINE | 13356558 | 13357705 | 13356723 | 13356723 | Missense_Mutation | A | T | p.N286K |
| ROS50_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 13356558 | 13357705 | 13356764 | 13356764 | Missense_Mutation | C | T | p.D273N |
| RERFLCAD2_LUNG | 13356558 | 13357705 | 13356813 | 13356813 | Missense_Mutation | C | G | p.E256D |
| MDAPCA2B_PROSTATE | 13356558 | 13357705 | 13356848 | 13356848 | Missense_Mutation | T | C | p.N245D |
| JURLMK1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 13356558 | 13357705 | 13356863 | 13356863 | Missense_Mutation | G | A | p.P240S |
| NCIH2009_LUNG | 13356558 | 13357705 | 13356870 | 13356870 | Missense_Mutation | T | A | p.K237N |
| RAJI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 13356558 | 13357705 | 13357087 | 13357087 | Missense_Mutation | C | T | p.G165E |
| HUO3N1_BONE | 13356558 | 13357705 | 13357147 | 13357147 | Missense_Mutation | C | G | p.G145A |
| NCIH2023_LUNG | 13356558 | 13357705 | 13357187 | 13357187 | Missense_Mutation | C | G | p.G132R |
| CTB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 13356558 | 13357705 | 13357210 | 13357210 | Missense_Mutation | T | C | p.D124G |
| IGROV1_OVARY | 13356558 | 13357705 | 13357241 | 13357241 | Missense_Mutation | C | A | p.D114Y |
| JJN3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 13356558 | 13357705 | 13357254 | 13357254 | Missense_Mutation | A | C | p.H109Q |
| SW620_LARGE_INTESTINE | 13356558 | 13357705 | 13357303 | 13357303 | Missense_Mutation | C | T | p.G93D |
| BC3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 13356558 | 13357705 | 13357307 | 13357307 | Missense_Mutation | C | T | p.E92K |
| KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 13356558 | 13357705 | 13357343 | 13357343 | Missense_Mutation | G | T | p.H80N |
| NCIH1869_LUNG | 13356558 | 13357705 | 13357413 | 13357413 | Missense_Mutation | C | A | p.E56D |
| DMS53_LUNG | 13356558 | 13357705 | 13357499 | 13357499 | Missense_Mutation | T | C | p.N28D |
| KYSE510_OESOPHAGUS | 12945996 | 12946213 | 12946015 | 12946015 | Nonsense_Mutation | G | A | p.R1425* |
| NCIH2405_LUNG | 12947761 | 12947979 | 12947778 | 12947778 | Nonsense_Mutation | C | A | p.E1353* |
| RL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 12947761 | 12947979 | 12947934 | 12947934 | Nonsense_Mutation | C | A | p.E1301* |
| SNU175_LARGE_INTESTINE | 12947761 | 12947979 | 12947961 | 12947961 | Nonsense_Mutation | G | A | p.R1292* |
| SNU81_LARGE_INTESTINE | 13258979 | 13259128 | 13259113 | 13259113 | Nonsense_Mutation | G | A | p.R347* |
| SKMES1_LUNG | 13356558 | 13357705 | 13356596 | 13356596 | Nonsense_Mutation | C | A | p.E329* |
| HT115_LARGE_INTESTINE | 12960299 | 12960362 | 12960361 | 12960361 | Splice_Site | G | A | p.R502C |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for DLC1 |
| 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 DLC1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for DLC1 |
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RelatedDrugs for DLC1 |
| 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 DLC1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| DLC1 | C0038356 | Stomach Neoplasms | 1 | CTD_human;HPO |
| DLC1 | C0919267 | ovarian neoplasm | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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