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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 R3HCC1L |
 Gene summary |
| Gene information | Gene symbol | R3HCC1L | Gene ID | 27291 |
| Gene name | R3H domain and coiled-coil containing 1 like | |
| Synonyms | C10orf28|GIDRP86|GIDRP88|PSORT | |
| Cytomap | 10q24.2 | |
| Type of gene | protein-coding | |
| Description | coiled-coil domain-containing protein R3HCC1LR3H and coiled-coil domain-containing protein 1-likegrowth inhibition and differentiation related protein 86growth inhibition and differentiation-related protein 88putative mitochondrial space protein 32.1 | |
| Modification date | 20180523 | |
| UniProtAcc | Q7Z5L2 | |
| Context | PubMed: R3HCC1L [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 R3HCC1L 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 R3HCC1L |
| 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 R3HCC1L |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_44217 | 10 | 99894427:99894463:99915849:99915904:99922639:99922732 | 99915849:99915904 | ENSG00000166024.9 | ENST00000314594.5,ENST00000298999.3 |
| exon_skip_44235 | 10 | 99915849:99915904:99922639:99922732:99923049:99923154 | 99922639:99922732 | ENSG00000166024.9 | ENST00000314594.5,ENST00000298999.3 |
| exon_skip_44237 | 10 | 99922639:99922732:99923049:99923154:99967857:99969656 | 99923049:99923154 | ENSG00000166024.9 | ENST00000314594.5,ENST00000298999.3 |
| exon_skip_44239 | 10 | 99923049:99923154:99946223:99946320:99967857:99967971 | 99946223:99946320 | ENSG00000166024.9 | ENST00000370584.3 |
| exon_skip_44243 | 10 | 99923049:99923154:99967857:99969656:99991268:99991444 | 99967857:99969656 | ENSG00000166024.9 | ENST00000298999.3 |
| exon_skip_44249 | 10 | 99969514:99969656:99971063:99971105:99991268:99991444 | 99971063:99971105 | ENSG00000166024.9 | ENST00000314594.5 |
| exon_skip_44253 | 10 | 99967857:99969656:99991268:99991444:99994202:99994273 | 99991268:99991444 | ENSG00000166024.9 | ENST00000298999.3,ENST00000370584.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for R3HCC1L |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_44217 | 10 | 99894427:99894463:99915849:99915904:99922639:99922732 | 99915849:99915904 | ENSG00000166024.9 | ENST00000298999.3,ENST00000314594.5 |
| exon_skip_44235 | 10 | 99915849:99915904:99922639:99922732:99923049:99923154 | 99922639:99922732 | ENSG00000166024.9 | ENST00000298999.3,ENST00000314594.5 |
| exon_skip_44237 | 10 | 99922639:99922732:99923049:99923154:99967857:99969656 | 99923049:99923154 | ENSG00000166024.9 | ENST00000298999.3,ENST00000314594.5 |
| exon_skip_44239 | 10 | 99923049:99923154:99946223:99946320:99967857:99967971 | 99946223:99946320 | ENSG00000166024.9 | ENST00000370584.3 |
| exon_skip_44243 | 10 | 99923049:99923154:99967857:99969656:99991268:99991444 | 99967857:99969656 | ENSG00000166024.9 | ENST00000298999.3 |
| exon_skip_44249 | 10 | 99969514:99969656:99971063:99971105:99991268:99991444 | 99971063:99971105 | ENSG00000166024.9 | ENST00000314594.5 |
| exon_skip_44253 | 10 | 99967857:99969656:99991268:99991444:99994202:99994273 | 99991268:99991444 | ENSG00000166024.9 | ENST00000370584.3,ENST00000298999.3 |
| 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 R3HCC1L |
| 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 R3HCC1L |
| 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 R3HCC1L |
| - 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_44243 | 99967858 | 99969656 | 99967922 | 99967922 | Frame_Shift_Del | G | - | p.M17fs |
| STAD | TCGA-D7-A6EY-01 | exon_skip_44243 | 99967858 | 99969656 | 99968034 | 99968035 | Frame_Shift_Del | TC | - | p.54_55del |
| STAD | TCGA-D7-A6EY-01 | exon_skip_44243 | 99967858 | 99969656 | 99968034 | 99968035 | Frame_Shift_Del | TC | - | p.S55fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_44243 | 99967858 | 99969656 | 99968288 | 99968288 | Frame_Shift_Del | T | - | p.H139fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_44243 | 99967858 | 99969656 | 99968602 | 99968602 | Frame_Shift_Del | A | - | p.E244fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_44243 | 99967858 | 99969656 | 99968643 | 99968643 | Frame_Shift_Del | A | - | p.N258fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_44243 | 99967858 | 99969656 | 99968658 | 99968658 | Frame_Shift_Del | G | - | p.G263fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_44243 | 99967858 | 99969656 | 99968707 | 99968707 | Frame_Shift_Del | A | - | p.Q279fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_44243 | 99967858 | 99969656 | 99968720 | 99968720 | Frame_Shift_Del | T | - | p.D283fs |
| PRAD | TCGA-XK-AAIW-01 | exon_skip_44243 | 99967858 | 99969656 | 99969296 | 99969296 | Frame_Shift_Del | A | - | p.I475fs |
| STAD | TCGA-CG-4469-01 | exon_skip_44243 | 99967858 | 99969656 | 99969326 | 99969326 | Frame_Shift_Del | T | - | p.T485fs |
| LIHC | TCGA-BC-A112-01 | exon_skip_44243 | 99967858 | 99969656 | 99968555 | 99968556 | Frame_Shift_Ins | - | A | p.T229fs |
| KIRC | TCGA-B0-5700-01 | exon_skip_44243 | 99967858 | 99969656 | 99969109 | 99969110 | Frame_Shift_Ins | - | A | p.S413fs |
| SKCM | TCGA-EE-A3AA-06 | exon_skip_44243 | 99967858 | 99969656 | 99968076 | 99968076 | Nonsense_Mutation | C | T | p.R69* |
| THCA | TCGA-DJ-A2Q0-01 | exon_skip_44243 | 99967858 | 99969656 | 99968514 | 99968514 | Nonsense_Mutation | G | T | p.E215* |
| THCA | TCGA-DJ-A2Q0-01 | exon_skip_44243 | 99967858 | 99969656 | 99968514 | 99968514 | Nonsense_Mutation | G | T | p.E215X |
| BLCA | TCGA-FD-A6TC-01 | exon_skip_44243 | 99967858 | 99969656 | 99968562 | 99968562 | Nonsense_Mutation | G | T | p.E231* |
| ESCA | TCGA-L5-A8NR-01 | exon_skip_44243 | 99967858 | 99969656 | 99969226 | 99969226 | Nonsense_Mutation | C | A | p.S452* |
| ESCA | TCGA-L5-A8NR-01 | exon_skip_44243 | 99967858 | 99969656 | 99969226 | 99969226 | Nonsense_Mutation | C | A | p.S452X |
| STAD | TCGA-CG-4469-01 | exon_skip_44243 | 99967858 | 99969656 | 99969331 | 99969331 | Nonsense_Mutation | T | A | p.L487X |
| THYM | TCGA-YT-A95G-01 | exon_skip_44243 | 99967858 | 99969656 | 99969432 | 99969432 | Nonsense_Mutation | G | T | p.E521X |
| LIHC | TCGA-DD-AAEK-01 | exon_skip_44253 | 99991269 | 99991444 | 99991445 | 99991445 | Splice_Site | G | A | . |
| - 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 |
| HCC366_LUNG | 99967858 | 99969656 | 99968975 | 99968975 | Frame_Shift_Del | A | - | p.V368fs |
| NCIH630_LARGE_INTESTINE | 99967858 | 99969656 | 99969296 | 99969296 | Frame_Shift_Del | A | - | p.I475fs |
| IMR5_AUTONOMIC_GANGLIA | 99967858 | 99969656 | 99969478 | 99969482 | Frame_Shift_Del | CAGGG | - | p.SG536fs |
| HCC366_LUNG | 99967858 | 99969656 | 99968977 | 99968978 | Frame_Shift_Ins | - | TT | p.D370fs |
| HCT15_LARGE_INTESTINE | 99967858 | 99969656 | 99969325 | 99969326 | Frame_Shift_Ins | - | T | p.TF485fs |
| HCC366_LUNG | 99967858 | 99969656 | 99968975 | 99968977 | In_Frame_Del | AGG | - | p.G369del |
| KY821_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 99967858 | 99969656 | 99967920 | 99967920 | Missense_Mutation | A | G | p.M17V |
| UOK101_KIDNEY | 99967858 | 99969656 | 99967978 | 99967978 | Missense_Mutation | A | C | p.E36A |
| NCIH1930_LUNG | 99967858 | 99969656 | 99968017 | 99968017 | Missense_Mutation | A | G | p.E49G |
| BC3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 99967858 | 99969656 | 99968097 | 99968097 | Missense_Mutation | G | C | p.D76H |
| LB1047RCC_KIDNEY | 99967858 | 99969656 | 99968182 | 99968182 | Missense_Mutation | T | C | p.V104A |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 99967858 | 99969656 | 99968272 | 99968272 | Missense_Mutation | C | T | p.A134V |
| MYLA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 99967858 | 99969656 | 99968437 | 99968437 | Missense_Mutation | G | A | p.S189N |
| ISHIKAWAHERAKLIO02ER_ENDOMETRIUM | 99967858 | 99969656 | 99968519 | 99968519 | Missense_Mutation | A | G | p.I216M |
| JHUEM7_ENDOMETRIUM | 99967858 | 99969656 | 99968632 | 99968632 | Missense_Mutation | A | G | p.D254G |
| COGAR359_SOFT_TISSUE | 99967858 | 99969656 | 99968664 | 99968664 | Missense_Mutation | A | G | p.T265A |
| KYSE220_OESOPHAGUS | 99967858 | 99969656 | 99968671 | 99968671 | Missense_Mutation | C | A | p.T267N |
| GP5D_LARGE_INTESTINE | 99967858 | 99969656 | 99968716 | 99968716 | Missense_Mutation | T | C | p.V282A |
| ES8_BONE | 99967858 | 99969656 | 99968830 | 99968830 | Missense_Mutation | G | T | p.S320I |
| SNU81_LARGE_INTESTINE | 99967858 | 99969656 | 99969100 | 99969100 | Missense_Mutation | G | A | p.R410Q |
| LS180_LARGE_INTESTINE | 99967858 | 99969656 | 99969124 | 99969124 | Missense_Mutation | T | C | p.M418T |
| NCIH82_LUNG | 99967858 | 99969656 | 99969156 | 99969156 | Missense_Mutation | A | G | p.R429G |
| TM87_SOFT_TISSUE | 99967858 | 99969656 | 99969291 | 99969291 | Missense_Mutation | C | G | p.P474A |
| NCIH747_LARGE_INTESTINE | 99967858 | 99969656 | 99969291 | 99969291 | Missense_Mutation | C | G | p.P474A |
| SNU81_LARGE_INTESTINE | 99967858 | 99969656 | 99969298 | 99969298 | Missense_Mutation | A | C | p.K476T |
| HCC2998_LARGE_INTESTINE | 99967858 | 99969656 | 99969300 | 99969300 | Missense_Mutation | A | C | p.K477Q |
| NCIH196_LUNG | 99967858 | 99969656 | 99969363 | 99969363 | Missense_Mutation | A | C | p.K498Q |
| NCIH345_LUNG | 99967858 | 99969656 | 99969423 | 99969423 | Missense_Mutation | G | A | p.A518T |
| CAL51_BREAST | 99967858 | 99969656 | 99969460 | 99969460 | Missense_Mutation | C | A | p.T530K |
| LNCAPCLONEFGC_PROSTATE | 99967858 | 99969656 | 99969535 | 99969535 | Missense_Mutation | C | T | p.T555I |
| MM386_SKIN | 99967858 | 99969656 | 99969559 | 99969559 | Missense_Mutation | A | C | p.E563A |
| IGR1_SKIN | 99991269 | 99991444 | 99991273 | 99991273 | Missense_Mutation | C | T | p.S597L |
| HT115_LARGE_INTESTINE | 99991269 | 99991444 | 99991407 | 99991407 | Missense_Mutation | C | T | p.H642Y |
| HEC59_ENDOMETRIUM | 99967858 | 99969656 | 99967875 | 99967875 | Nonsense_Mutation | C | T | p.Q2* |
| JHUEM7_ENDOMETRIUM | 99967858 | 99969656 | 99968076 | 99968076 | Nonsense_Mutation | C | T | p.R69* |
| HEC59_ENDOMETRIUM | 99967858 | 99969656 | 99968364 | 99968364 | Nonsense_Mutation | C | T | p.Q165* |
| CHL1_SKIN | 99967858 | 99969656 | 99969601 | 99969601 | Nonsense_Mutation | G | A | p.W577* |
| HMCB_SKIN | 99967858 | 99969656 | 99969601 | 99969601 | Nonsense_Mutation | G | A | p.W577* |
| 59M_OVARY | 99967858 | 99969656 | 99969656 | 99969656 | Splice_Site | G | A | p.E595E |
| NB1_AUTONOMIC_GANGLIA | 99967858 | 99969656 | 99967872 | 99967872 | Start_Codon_SNP | A | C | p.M1L |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for R3HCC1L |
| 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_44239 | 10 | 99923049:99923154:99946223:99946320:99967857:99967971 | 99946223:99946320 | ENST00000370584.3 | ESCA | rs1325494 | chr10:99946220 | C/G | 1.16e-03 |
| exon_skip_44239 | 10 | 99923049:99923154:99946223:99946320:99967857:99967971 | 99946223:99946320 | ENST00000370584.3 | STAD | rs1325494 | chr10:99946220 | C/G | 2.09e-04 |
| exon_skip_44243 | 10 | 99923049:99923154:99967857:99969656:99991268:99991444 | 99967857:99969656 | ENST00000298999.3 | STAD | rs11189513 | chr10:99969568 | A/G | 1.08e-03 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for R3HCC1L |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for R3HCC1L |
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RelatedDrugs for R3HCC1L |
| 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 R3HCC1L |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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