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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 ERCC6L2 |
 Gene summary |
| Gene information | Gene symbol | ERCC6L2 | Gene ID | 375748 |
| Gene name | ERCC excision repair 6 like 2 | |
| Synonyms | BMFS2|C9orf102|RAD26L|SR278 | |
| Cytomap | 9q22.32 | |
| Type of gene | protein-coding | |
| Description | DNA excision repair protein ERCC-6-like 2DNA repair and recombination protein RAD26-likeexcision repair cross-complementation group 6 like 2excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2putative repair and | |
| Modification date | 20180519 | |
| UniProtAcc | Q5T890 | |
| Context | PubMed: ERCC6L2 [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 ERCC6L2 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 ERCC6L2 |
| 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 ERCC6L2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_497517 | 9 | 98643150:98643575:98660130:98660253:98669359:98669553 | 98660130:98660253 | ENSG00000182150.11 | ENST00000288985.7 |
| exon_skip_497522 | 9 | 98660130:98660253:98669359:98669553:98677949:98678111 | 98669359:98669553 | ENSG00000182150.11 | ENST00000288985.7 |
| exon_skip_497524 | 9 | 98683456:98683597:98684586:98684700:98685541:98685661 | 98684586:98684700 | ENSG00000182150.11 | ENST00000456993.1,ENST00000466840.1,ENST00000437817.1,ENST00000288985.7 |
| exon_skip_497526 | 9 | 98703785:98703831:98717009:98717204:98718195:98718295 | 98717009:98717204 | ENSG00000182150.11 | ENST00000456993.1,ENST00000479391.2 |
| exon_skip_497527 | 9 | 98703785:98703831:98718195:98718295:98728843:98728996 | 98718195:98718295 | ENSG00000182150.11 | ENST00000470362.1,ENST00000466840.1,ENST00000437817.1,ENST00000288985.7 |
| exon_skip_497529 | 9 | 98718195:98718295:98728843:98728996:98729740:98729907 | 98728843:98728996 | ENSG00000182150.11 | ENST00000479391.2 |
| exon_skip_497530 | 9 | 98718195:98718295:98728843:98728996:98732857:98732938 | 98728843:98728996 | ENSG00000182150.11 | ENST00000470362.1 |
| exon_skip_497534 | 9 | 98728931:98728996:98729740:98729907:98732857:98732938 | 98729740:98729907 | ENSG00000182150.11 | ENST00000479391.2 |
| exon_skip_497536 | 9 | 98732857:98732938:98733825:98733877:98734214:98734250 | 98733825:98733877 | ENSG00000182150.11 | ENST00000470362.1 |
| exon_skip_497537 | 9 | 98735118:98735370:98740342:98740497:98766801:98766983 | 98740342:98740497 | ENSG00000182150.11 | ENST00000407474.3,ENST00000479391.2,ENST00000320486.5 |
| exon_skip_497539 | 9 | 98740342:98740497:98766801:98766983:98774506:98775485 | 98766801:98766983 | ENSG00000182150.11 | ENST00000407474.3,ENST00000320486.5 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for ERCC6L2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_497517 | 9 | 98643150:98643575:98660130:98660253:98669359:98669553 | 98660130:98660253 | ENSG00000182150.11 | ENST00000288985.7 |
| exon_skip_497520 | 9 | 98660130:98660253:98668869:98668992:98669359:98669553 | 98668869:98668992 | ENSG00000182150.11 | ENST00000466840.1 |
| exon_skip_497522 | 9 | 98660130:98660253:98669359:98669553:98677949:98678111 | 98669359:98669553 | ENSG00000182150.11 | ENST00000288985.7 |
| exon_skip_497526 | 9 | 98703785:98703831:98717009:98717204:98718195:98718295 | 98717009:98717204 | ENSG00000182150.11 | ENST00000456993.1,ENST00000479391.2 |
| exon_skip_497527 | 9 | 98703785:98703831:98718195:98718295:98728843:98728996 | 98718195:98718295 | ENSG00000182150.11 | ENST00000288985.7,ENST00000466840.1,ENST00000437817.1,ENST00000470362.1 |
| exon_skip_497529 | 9 | 98718195:98718295:98728843:98728996:98729740:98729907 | 98728843:98728996 | ENSG00000182150.11 | ENST00000479391.2 |
| exon_skip_497530 | 9 | 98718195:98718295:98728843:98728996:98732857:98732938 | 98728843:98728996 | ENSG00000182150.11 | ENST00000470362.1 |
| exon_skip_497534 | 9 | 98728931:98728996:98729740:98729907:98732857:98732938 | 98729740:98729907 | ENSG00000182150.11 | ENST00000479391.2 |
| exon_skip_497536 | 9 | 98732857:98732938:98733825:98733877:98734214:98734250 | 98733825:98733877 | ENSG00000182150.11 | ENST00000470362.1 |
| exon_skip_497537 | 9 | 98735118:98735370:98740342:98740497:98766801:98766983 | 98740342:98740497 | ENSG00000182150.11 | ENST00000479391.2,ENST00000407474.3,ENST00000320486.5 |
| exon_skip_497539 | 9 | 98740342:98740497:98766801:98766983:98774506:98775485 | 98766801:98766983 | ENSG00000182150.11 | ENST00000407474.3,ENST00000320486.5 |
| 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 ERCC6L2 |
| 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 ERCC6L2 |
| 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 ERCC6L2 |
| - 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 |
| HNSC | TCGA-BA-4075-01 | exon_skip_497527 | 98718196 | 98718295 | 98718215 | 98718215 | Frame_Shift_Del | T | - | p.C634fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_497539 | 98766802 | 98766983 | 98766812 | 98766812 | Frame_Shift_Del | A | - | p.E149fs |
| LUAD | TCGA-MP-A4TF-01 | exon_skip_497539 | 98766802 | 98766983 | 98766944 | 98766944 | Frame_Shift_Del | C | - | p.T194fs |
| CESC | TCGA-EK-A2H0-01 | exon_skip_497522 | 98669360 | 98669553 | 98669408 | 98669408 | Nonsense_Mutation | G | T | p.E37* |
| GBM | TCGA-32-1991-01 | exon_skip_497530 exon_skip_497529 | 98728844 | 98728996 | 98728904 | 98728904 | Nonsense_Mutation | G | T | p.G383* |
| - 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 |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 98660131 | 98660253 | 98660234 | 98660236 | In_Frame_Del | TTT | - | p.203_204LS>P |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 98660131 | 98660253 | 98660213 | 98660213 | Missense_Mutation | G | A | p.R196K |
| SNU81_LARGE_INTESTINE | 98660131 | 98660253 | 98660237 | 98660237 | Missense_Mutation | C | A | p.S204Y |
| 201T_LUNG | 98669360 | 98669553 | 98669439 | 98669439 | Missense_Mutation | C | T | p.T236I |
| NCIBL128_MATCHED_NORMAL_TISSUE | 98669360 | 98669553 | 98669460 | 98669460 | Missense_Mutation | A | G | p.K243R |
| NCIH128_LUNG | 98669360 | 98669553 | 98669460 | 98669460 | Missense_Mutation | A | G | p.K243R |
| JHUEM7_ENDOMETRIUM | 98669360 | 98669553 | 98669477 | 98669477 | Missense_Mutation | C | T | p.R249C |
| SJSA1_BONE | 98684587 | 98684700 | 98684591 | 98684591 | Missense_Mutation | A | G | p.N446S |
| SKMEL3_SKIN | 98718196 | 98718295 | 98718266 | 98718266 | Missense_Mutation | A | G | p.I651V |
| NCIH2052_PLEURA | 98728844 | 98728996 | 98728852 | 98728852 | Missense_Mutation | C | G | p.H663Q |
| NCIBL2052_MATCHED_NORMAL_TISSUE | 98728844 | 98728996 | 98728852 | 98728852 | Missense_Mutation | C | G | p.H663Q |
| MOLT16_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 98728844 | 98728996 | 98728881 | 98728881 | Missense_Mutation | A | G | p.K673R |
| HT1376_URINARY_TRACT | 98728844 | 98728996 | 98728917 | 98728917 | Missense_Mutation | A | G | p.H685R |
| DU145_PROSTATE | 98728844 | 98728996 | 98728920 | 98728920 | Missense_Mutation | A | G | p.Q686R |
| NCIH740_LUNG | 98728844 | 98728996 | 98728940 | 98728940 | Missense_Mutation | C | T | p.H693Y |
| 2313287_STOMACH | 98728844 | 98728996 | 98728967 | 98728967 | Missense_Mutation | G | T | p.G702W |
| HS839T_FIBROBLAST | 98740343 | 98740497 | 98740357 | 98740357 | Missense_Mutation | G | T | p.V99L |
| MDAMB361_BREAST | 98740343 | 98740497 | 98740405 | 98740405 | Missense_Mutation | G | A | p.E115K |
| NCIH2342_LUNG | 98740343 | 98740497 | 98740444 | 98740444 | Missense_Mutation | G | C | p.E128Q |
| HEC251_ENDOMETRIUM | 98766802 | 98766983 | 98766878 | 98766878 | Nonsense_Mutation | C | A | p.S171* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ERCC6L2 |
| 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 ERCC6L2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ERCC6L2 |
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RelatedDrugs for ERCC6L2 |
| 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 ERCC6L2 |
| 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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