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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 SETD7 |
 Gene summary |
| Gene information | Gene symbol | SETD7 | Gene ID | 80854 |
| Gene name | SET domain containing lysine methyltransferase 7 | |
| Synonyms | KMT7|SET7|SET7/9|SET9 | |
| Cytomap | 4q31.1 | |
| Type of gene | protein-coding | |
| Description | histone-lysine N-methyltransferase SETD7H3-K4-HMTase SETD7SET domain-containing protein 7histone H3-K4 methyltransferase SETD7histone H3-lysine 4-specific methyltransferaselysine N-methyltransferase 7 | |
| Modification date | 20180519 | |
| UniProtAcc | Q8WTS6 | |
| Context | PubMed: SETD7 [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 |
| SETD7 | GO:0006974 | cellular response to DNA damage stimulus | 23509280 |
| SETD7 | GO:0018026 | peptidyl-lysine monomethylation | 17108971 |
| SETD7 | GO:0018027 | peptidyl-lysine dimethylation | 17108971 |
| SETD7 | GO:0070828 | heterochromatin organization | 23509280 |
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Exon skipping events across known transcript of Ensembl for SETD7 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 SETD7 |
| 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 SETD7 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_432343 | 4 | 140439038:140439196:140441430:140441548:140444507:140444589 | 140441430:140441548 | ENSG00000145391.9 | ENST00000506866.2,ENST00000274031.3 |
| exon_skip_432345 | 4 | 140444507:140444589:140450184:140450374:140454318:140454520 | 140450184:140450374 | ENSG00000145391.9 | ENST00000506866.2,ENST00000274031.3 |
| exon_skip_432349 | 4 | 140450184:140450374:140454318:140454520:140468073:140468203 | 140454318:140454520 | ENSG00000145391.9 | ENST00000506866.2,ENST00000274031.3 |
| exon_skip_432351 | 4 | 140454384:140454520:140468073:140468203:140477251:140477362 | 140468073:140468203 | ENSG00000145391.9 | ENST00000404104.3,ENST00000274031.3 |
| exon_skip_432353 | 4 | 140468077:140468203:140469172:140469273:140477251:140477362 | 140469172:140469273 | ENSG00000145391.9 | ENST00000406354.1 |
| exon_skip_432357 | 4 | 140523836:140523911:140525554:140525636:140525922:140525964 | 140525554:140525636 | ENSG00000145391.9 | ENST00000608958.1 |
| exon_skip_432359 | 4 | 140525922:140525964:140527513:140527610:140527751:140527853 | 140527513:140527610 | ENSG00000145391.9 | ENST00000608958.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for SETD7 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_432343 | 4 | 140439038:140439196:140441430:140441548:140444507:140444589 | 140441430:140441548 | ENSG00000145391.9 | ENST00000506866.2,ENST00000274031.3 |
| exon_skip_432345 | 4 | 140444507:140444589:140450184:140450374:140454318:140454520 | 140450184:140450374 | ENSG00000145391.9 | ENST00000506866.2,ENST00000274031.3 |
| exon_skip_432349 | 4 | 140450184:140450374:140454318:140454520:140468073:140468203 | 140454318:140454520 | ENSG00000145391.9 | ENST00000506866.2,ENST00000274031.3 |
| exon_skip_432351 | 4 | 140454384:140454520:140468073:140468203:140477251:140477362 | 140468073:140468203 | ENSG00000145391.9 | ENST00000274031.3,ENST00000404104.3 |
| exon_skip_432353 | 4 | 140468077:140468203:140469172:140469273:140477251:140477362 | 140469172:140469273 | ENSG00000145391.9 | ENST00000406354.1 |
| exon_skip_432357 | 4 | 140523836:140523911:140525554:140525636:140525922:140525964 | 140525554:140525636 | ENSG00000145391.9 | ENST00000608958.1 |
| exon_skip_432359 | 4 | 140525922:140525964:140527513:140527610:140527751:140527853 | 140527513:140527610 | ENSG00000145391.9 | ENST00000608958.1 |
| 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 SETD7 |
| 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 |
| ENST00000274031 | 140441430 | 140441548 | Frame-shift |
| ENST00000274031 | 140450184 | 140450374 | Frame-shift |
| ENST00000274031 | 140454318 | 140454520 | Frame-shift |
| ENST00000274031 | 140468073 | 140468203 | 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 |
| ENST00000274031 | 140441430 | 140441548 | Frame-shift |
| ENST00000274031 | 140450184 | 140450374 | Frame-shift |
| ENST00000274031 | 140454318 | 140454520 | Frame-shift |
| ENST00000274031 | 140468073 | 140468203 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for SETD7 |
| 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 SETD7 |
| - 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-A39Y-01 | exon_skip_432345 | 140450185 | 140450374 | 140450233 | 140450233 | Frame_Shift_Del | G | - | p.L172fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_432345 | 140450185 | 140450374 | 140450342 | 140450342 | Frame_Shift_Del | T | - | p.E135fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_432349 | 140454319 | 140454520 | 140454367 | 140454367 | Frame_Shift_Del | C | - | p.G108fs |
| HNSC | TCGA-TN-A7HI-01 | exon_skip_432343 | 140441431 | 140441548 | 140441448 | 140441448 | Nonsense_Mutation | G | A | p.R249* |
| SKCM | TCGA-3N-A9WD-06 | exon_skip_432343 | 140441431 | 140441548 | 140441448 | 140441448 | Nonsense_Mutation | G | A | p.R249* |
| BLCA | TCGA-E5-A4TZ-01 | exon_skip_432343 | 140441431 | 140441548 | 140441498 | 140441498 | Nonsense_Mutation | G | C | p.S232* |
| - 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 |
| CHL1_SKIN | 140450185 | 140450374 | 140450262 | 140450262 | Missense_Mutation | C | T | p.G162E |
| HMCB_SKIN | 140450185 | 140450374 | 140450262 | 140450262 | Missense_Mutation | C | T | p.G162E |
| ISTSL2_LUNG | 140450185 | 140450374 | 140450291 | 140450291 | Missense_Mutation | C | A | p.R152S |
| NCIH2172_LUNG | 140450185 | 140450374 | 140450301 | 140450301 | Missense_Mutation | G | T | p.P149H |
| HEC1_ENDOMETRIUM | 140450185 | 140450374 | 140450314 | 140450314 | Missense_Mutation | C | T | p.A145T |
| HCC2450_LUNG | 140454319 | 140454520 | 140454383 | 140454383 | Missense_Mutation | C | T | p.R103K |
| HEC108_ENDOMETRIUM | 140454319 | 140454520 | 140454494 | 140454494 | Missense_Mutation | T | C | p.D66G |
| MCC13_SKIN | 140468074 | 140468203 | 140468162 | 140468162 | Missense_Mutation | C | T | p.V28I |
| GP2D_LARGE_INTESTINE | 140468074 | 140468203 | 140468179 | 140468179 | Missense_Mutation | G | A | p.P22L |
| NCIH513_PLEURA | 140468074 | 140468203 | 140468195 | 140468195 | Missense_Mutation | C | A | p.D17Y |
| CW2_LARGE_INTESTINE | 140441431 | 140441548 | 140441431 | 140441431 | Splice_Site | C | T | p.E254E |
| TGBC11TKB_STOMACH | 140454319 | 140454520 | 140454520 | 140454520 | Splice_Site | G | A | p.S57S |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SETD7 |
| 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 SETD7 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SETD7 |
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RelatedDrugs for SETD7 |
| 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 SETD7 |
| 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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