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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 RABGAP1L |
 Gene summary |
| Gene information | Gene symbol | RABGAP1L | Gene ID | 9910 |
| Gene name | RAB GTPase activating protein 1 like | |
| Synonyms | HHL|TBC1D18 | |
| Cytomap | 1q25.1 | |
| Type of gene | protein-coding | |
| Description | rab GTPase-activating protein 1-likeTBC1 domain family, member 18expressed in hematopoietic cells, heart, liver (HLL) | |
| Modification date | 20180523 | |
| UniProtAcc | Q5R372 | |
| Context | PubMed: RABGAP1L [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 |
| RABGAP1L | GO:0032880 | regulation of protein localization | 16923123 |
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Exon skipping events across known transcript of Ensembl for RABGAP1L 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 RABGAP1L |
| 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 RABGAP1L |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_14261 | 1 | 174190109:174190302:174200282:174200493:174210620:174210795 | 174200282:174200493 | ENSG00000152061.17 | ENST00000357444.6,ENST00000251507.4,ENST00000457696.1,ENST00000367689.3 |
| exon_skip_14262 | 1 | 174221617:174221728:174241551:174241618:174244970:174245073 | 174241551:174241618 | ENSG00000152061.17 | ENST00000357444.6,ENST00000251507.4,ENST00000457696.1,ENST00000367689.3 |
| exon_skip_14263 | 1 | 174247750:174247917:174274123:174274265:174340116:174340210 | 174274123:174274265 | ENSG00000152061.17 | ENST00000357444.6,ENST00000251507.4,ENST00000457696.1,ENST00000367689.3,ENST00000367690.1 |
| exon_skip_14264 | 1 | 174274123:174274265:174340116:174340210:174363132:174363283 | 174340116:174340210 | ENSG00000152061.17 | ENST00000357444.6,ENST00000251507.4,ENST00000457696.1,ENST00000367689.3,ENST00000367690.1 |
| exon_skip_14265 | 1 | 174606515:174606626:174652659:174652734:174668662:174668788 | 174652659:174652734 | ENSG00000152061.17 | ENST00000251507.4,ENST00000474375.1 |
| exon_skip_14266 | 1 | 174668662:174668788:174671250:174671394:174721450:174721492 | 174671250:174671394 | ENSG00000152061.17 | ENST00000251507.4 |
| exon_skip_14268 | 1 | 174671250:174671394:174721450:174721492:174780969:174781098 | 174721450:174721492 | ENSG00000152061.17 | ENST00000347255.2,ENST00000251507.4,ENST00000325589.5,ENST00000469553.2,ENST00000367687.1,ENST00000367686.3 |
| exon_skip_14269 | 1 | 174721450:174721492:174780969:174781098:174926593:174926686 | 174780969:174781098 | ENSG00000152061.17 | ENST00000347255.2,ENST00000251507.4,ENST00000325589.5,ENST00000367687.1 |
| exon_skip_14271 | 1 | 174780969:174781098:174846529:174846743:174926593:174926686 | 174846529:174846743 | ENSG00000152061.17 | ENST00000469553.2,ENST00000367686.3 |
| exon_skip_14274 | 1 | 174843608:174843644:174846529:174846743:174926593:174926686 | 174846529:174846743 | ENSG00000152061.17 | ENST00000465412.1,ENST00000478442.1 |
| exon_skip_14276 | 1 | 174844683:174844851:174846529:174846743:174926593:174926686 | 174846529:174846743 | ENSG00000152061.17 | ENST00000486220.1 |
| exon_skip_14278 | 1 | 174926593:174926686:174927027:174927310:174938413:174938524 | 174927027:174927310 | ENSG00000152061.17 | ENST00000469553.2,ENST00000367686.3 |
| exon_skip_14279 | 1 | 174951970:174952042:174957777:174957975:174958985:174959478 | 174957777:174957975 | ENSG00000152061.17 | ENST00000347255.2,ENST00000392064.2,ENST00000325589.5,ENST00000489615.1,ENST00000367688.3,ENST00000469553.2,ENST00000367687.1,ENST00000367686.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for RABGAP1L |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_14261 | 1 | 174190109:174190302:174200282:174200493:174210620:174210795 | 174200282:174200493 | ENSG00000152061.17 | ENST00000357444.6,ENST00000367689.3,ENST00000251507.4,ENST00000457696.1 |
| exon_skip_14262 | 1 | 174221617:174221728:174241551:174241618:174244970:174245073 | 174241551:174241618 | ENSG00000152061.17 | ENST00000357444.6,ENST00000367689.3,ENST00000251507.4,ENST00000457696.1 |
| exon_skip_14263 | 1 | 174247750:174247917:174274123:174274265:174340116:174340210 | 174274123:174274265 | ENSG00000152061.17 | ENST00000357444.6,ENST00000367689.3,ENST00000251507.4,ENST00000457696.1,ENST00000367690.1 |
| exon_skip_14264 | 1 | 174274123:174274265:174340116:174340210:174363132:174363283 | 174340116:174340210 | ENSG00000152061.17 | ENST00000357444.6,ENST00000367689.3,ENST00000251507.4,ENST00000457696.1,ENST00000367690.1 |
| exon_skip_14265 | 1 | 174606515:174606626:174652659:174652734:174668662:174668788 | 174652659:174652734 | ENSG00000152061.17 | ENST00000251507.4,ENST00000474375.1 |
| exon_skip_14266 | 1 | 174668662:174668788:174671250:174671394:174721450:174721492 | 174671250:174671394 | ENSG00000152061.17 | ENST00000251507.4 |
| exon_skip_14268 | 1 | 174671250:174671394:174721450:174721492:174780969:174781098 | 174721450:174721492 | ENSG00000152061.17 | ENST00000251507.4,ENST00000325589.5,ENST00000469553.2,ENST00000367686.3,ENST00000367687.1,ENST00000347255.2 |
| exon_skip_14269 | 1 | 174721450:174721492:174780969:174781098:174926593:174926686 | 174780969:174781098 | ENSG00000152061.17 | ENST00000251507.4,ENST00000325589.5,ENST00000367687.1,ENST00000347255.2 |
| exon_skip_14271 | 1 | 174780969:174781098:174846529:174846743:174926593:174926686 | 174846529:174846743 | ENSG00000152061.17 | ENST00000469553.2,ENST00000367686.3 |
| exon_skip_14274 | 1 | 174843608:174843644:174846529:174846743:174926593:174926686 | 174846529:174846743 | ENSG00000152061.17 | ENST00000478442.1,ENST00000465412.1 |
| exon_skip_14276 | 1 | 174844683:174844851:174846529:174846743:174926593:174926686 | 174846529:174846743 | ENSG00000152061.17 | ENST00000486220.1 |
| exon_skip_14278 | 1 | 174926593:174926686:174927027:174927310:174938413:174938524 | 174927027:174927310 | ENSG00000152061.17 | ENST00000469553.2,ENST00000367686.3 |
| exon_skip_14279 | 1 | 174951970:174952042:174957777:174957975:174958985:174959478 | 174957777:174957975 | ENSG00000152061.17 | ENST00000325589.5,ENST00000469553.2,ENST00000367686.3,ENST00000367687.1,ENST00000347255.2,ENST00000489615.1,ENST00000392064.2,ENST00000367688.3 |
| 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 RABGAP1L |
| 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 |
| ENST00000251507 | 174200282 | 174200493 | Frame-shift |
| ENST00000251507 | 174241551 | 174241618 | Frame-shift |
| ENST00000251507 | 174274123 | 174274265 | Frame-shift |
| ENST00000251507 | 174340116 | 174340210 | Frame-shift |
| ENST00000251507 | 174652659 | 174652734 | In-frame |
| ENST00000251507 | 174671250 | 174671394 | In-frame |
| ENST00000251507 | 174721450 | 174721492 | In-frame |
| ENST00000251507 | 174780969 | 174781098 | In-frame |
| ENST00000367688 | 174957777 | 174957975 | 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 |
| ENST00000251507 | 174200282 | 174200493 | Frame-shift |
| ENST00000251507 | 174241551 | 174241618 | Frame-shift |
| ENST00000251507 | 174274123 | 174274265 | Frame-shift |
| ENST00000251507 | 174340116 | 174340210 | Frame-shift |
| ENST00000251507 | 174652659 | 174652734 | In-frame |
| ENST00000251507 | 174671250 | 174671394 | In-frame |
| ENST00000251507 | 174721450 | 174721492 | In-frame |
| ENST00000251507 | 174780969 | 174781098 | In-frame |
| ENST00000367688 | 174957777 | 174957975 | In-frame |
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Infer the effects of exon skipping event on protein functional features for RABGAP1L |
| 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 |
| ENST00000367688 | 1442 | 253 | 174957777 | 174957975 | 591 | 788 | 137 | 203 |
| ENST00000251507 | 2916 | 253 | 174652659 | 174652734 | 1999 | 2073 | 608 | 633 |
| ENST00000251507 | 2916 | 253 | 174671250 | 174671394 | 2200 | 2343 | 675 | 723 |
| ENST00000251507 | 2916 | 253 | 174721450 | 174721492 | 2344 | 2385 | 723 | 737 |
| ENST00000251507 | 2916 | 253 | 174780969 | 174781098 | 2386 | 2514 | 737 | 780 |
| 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 |
| ENST00000367688 | 1442 | 253 | 174957777 | 174957975 | 591 | 788 | 137 | 203 |
| ENST00000251507 | 2916 | 253 | 174652659 | 174652734 | 1999 | 2073 | 608 | 633 |
| ENST00000251507 | 2916 | 253 | 174671250 | 174671394 | 2200 | 2343 | 675 | 723 |
| ENST00000251507 | 2916 | 253 | 174721450 | 174721492 | 2344 | 2385 | 723 | 737 |
| ENST00000251507 | 2916 | 253 | 174780969 | 174781098 | 2386 | 2514 | 737 | 780 |
| 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 |
| B7ZAP0 | 137 | 203 | 1 | 253 | Chain | ID=PRO_0000417613;Note=Rab GTPase-activating protein 1-like%2C isoform 10 |
| B7ZAP0 | 137 | 203 | 8 | 222 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| 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 |
| B7ZAP0 | 137 | 203 | 1 | 253 | Chain | ID=PRO_0000417613;Note=Rab GTPase-activating protein 1-like%2C isoform 10 |
| B7ZAP0 | 137 | 203 | 8 | 222 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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SNVs in the skipped exons for RABGAP1L |
| - 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_14261 | 174200283 | 174200493 | 174200443 | 174200443 | Frame_Shift_Del | C | - | p.Y164fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_14261 | 174200283 | 174200493 | 174200447 | 174200447 | Frame_Shift_Del | T | - | p.F166fs |
| COAD | TCGA-AY-6197-01 | exon_skip_14263 | 174274124 | 174274265 | 174274241 | 174274241 | Frame_Shift_Del | C | - | p.S480fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_14265 | 174652660 | 174652734 | 174652707 | 174652707 | Frame_Shift_Del | T | - | p.S624fs |
| STAD | TCGA-BR-7851-01 | exon_skip_14266 | 174671251 | 174671394 | 174671277 | 174671277 | Frame_Shift_Del | T | - | p.H684fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_14269 | 174780970 | 174781098 | 174780999 | 174780999 | Frame_Shift_Del | T | - | p.D66fs |
| KIRC | TCGA-CJ-4918-01 | exon_skip_14269 | 174780970 | 174781098 | 174781011 | 174781011 | Frame_Shift_Del | T | - | p.A70fs |
| KIRC | TCGA-CJ-4918-01 | exon_skip_14269 | 174780970 | 174781098 | 174781011 | 174781011 | Frame_Shift_Del | T | - | p.A751fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_14279 | 174957778 | 174957975 | 174957967 | 174957967 | Frame_Shift_Del | A | - | p.K318fs |
| LIHC | TCGA-BC-A112-01 | exon_skip_14263 | 174274124 | 174274265 | 174274131 | 174274132 | Frame_Shift_Ins | - | A | p.E444fs |
| ESCA | TCGA-IG-A50L-01 | exon_skip_14264 | 174340117 | 174340210 | 174340190 | 174340190 | Nonsense_Mutation | G | A | p.W513X |
| LUAD | TCGA-55-A490-01 | exon_skip_14269 | 174780970 | 174781098 | 174781081 | 174781081 | Nonsense_Mutation | C | T | p.Q94* |
| PAAD | TCGA-IB-7651-01 | exon_skip_14262 | 174241552 | 174241618 | 174241551 | 174241551 | Splice_Site | G | A | . |
| LUSC | TCGA-22-5489-01 | exon_skip_14264 | 174340117 | 174340210 | 174340115 | 174340115 | Splice_Site | A | G | p.E489_splice |
| - 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 |
| RL952_ENDOMETRIUM | 174274124 | 174274265 | 174274226 | 174274226 | Frame_Shift_Del | G | - | p.G477fs |
| DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 174957778 | 174957975 | 174957883 | 174957885 | In_Frame_Del | GAG | - | p.E173del |
| SNU81_LARGE_INTESTINE | 174200283 | 174200493 | 174200330 | 174200330 | Missense_Mutation | G | T | p.D127Y |
| HEC251_ENDOMETRIUM | 174200283 | 174200493 | 174200349 | 174200349 | Missense_Mutation | A | C | p.K133T |
| HARA_LUNG | 174200283 | 174200493 | 174200408 | 174200408 | Missense_Mutation | C | T | p.R153W |
| NCIH1876_LUNG | 174200283 | 174200493 | 174200474 | 174200474 | Missense_Mutation | G | T | p.V175F |
| CHSA8926_BONE | 174241552 | 174241618 | 174241572 | 174241572 | Missense_Mutation | G | A | p.S336N |
| RKO_LARGE_INTESTINE | 174241552 | 174241618 | 174241596 | 174241596 | Missense_Mutation | G | T | p.S344I |
| EW7_BONE | 174274124 | 174274265 | 174274131 | 174274131 | Missense_Mutation | G | A | p.G444E |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 174274124 | 174274265 | 174274143 | 174274143 | Missense_Mutation | C | G | p.T448S |
| NCIH2023_LUNG | 174274124 | 174274265 | 174274182 | 174274182 | Missense_Mutation | A | G | p.Q461R |
| MEWO_SKIN | 174274124 | 174274265 | 174274218 | 174274218 | Missense_Mutation | C | T | p.T473I |
| KMH2_THYROID | 174274124 | 174274265 | 174274221 | 174274221 | Missense_Mutation | G | A | p.S474N |
| C4I_CERVIX | 174340117 | 174340210 | 174340186 | 174340186 | Missense_Mutation | C | G | p.S512C |
| HEC108_ENDOMETRIUM | 174652660 | 174652734 | 174652718 | 174652718 | Missense_Mutation | C | T | p.A628V |
| HEC1B_ENDOMETRIUM | 174671251 | 174671394 | 174671329 | 174671329 | Missense_Mutation | A | G | p.T702A |
| TGBC11TKB_STOMACH | 174671251 | 174671394 | 174671363 | 174671363 | Missense_Mutation | T | G | p.V713G |
| MHHPREB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 174780970 | 174781098 | 174780985 | 174780985 | Missense_Mutation | C | A | p.L743I |
| NCIH2172_LUNG | 174780970 | 174781098 | 174781083 | 174781083 | Missense_Mutation | G | T | p.Q775H |
| OC316_OVARY | 174846530 | 174846743 | 174846638 | 174846638 | Missense_Mutation | G | A | p.M2I |
| OC314_OVARY | 174846530 | 174846743 | 174846638 | 174846638 | Missense_Mutation | G | A | p.M2I |
| NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 174846530 | 174846743 | 174846654 | 174846654 | Missense_Mutation | A | T | p.M8L |
| HEC108_ENDOMETRIUM | 174846530 | 174846743 | 174846664 | 174846664 | Missense_Mutation | A | G | p.Y11C |
| NCIH1385_LUNG | 174846530 | 174846743 | 174846673 | 174846673 | Missense_Mutation | A | T | p.H14L |
| HEC108_ENDOMETRIUM | 174846530 | 174846743 | 174846697 | 174846697 | Missense_Mutation | A | G | p.E22G |
| SNU407_LARGE_INTESTINE | 174846530 | 174846743 | 174846721 | 174846721 | Missense_Mutation | C | T | p.A30V |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 174846530 | 174846743 | 174846724 | 174846724 | Missense_Mutation | T | C | p.I31T |
| NCIH196_LUNG | 174957778 | 174957975 | 174957901 | 174957901 | Missense_Mutation | A | C | p.K179Q |
| NCIH2342_LUNG | 174274124 | 174274265 | 174274151 | 174274151 | Nonsense_Mutation | G | T | p.G451* |
| OVMIU_OVARY | 174274124 | 174274265 | 174274184 | 174274184 | Nonsense_Mutation | C | T | p.R462* |
| 451LU_SKIN | 174927028 | 174927310 | 174927029 | 174927029 | Splice_Site | T | A | p.F812Y |
| KMRC3_KIDNEY | 174957778 | 174957975 | 174957779 | 174957779 | Splice_Site | G | A | p.G138D |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for RABGAP1L |
| 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 RABGAP1L |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for RABGAP1L |
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RelatedDrugs for RABGAP1L |
| 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 RABGAP1L |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| RABGAP1L | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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