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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 BEND6 |
 Gene summary |
| Gene information | Gene symbol | BEND6 | Gene ID | 221336 |
| Gene name | BEN domain containing 6 | |
| Synonyms | C6orf65 | |
| Cytomap | 6p12.1 | |
| Type of gene | protein-coding | |
| Description | BEN domain-containing protein 6 | |
| Modification date | 20180506 | |
| UniProtAcc | Q5SZJ8 | |
| Context | PubMed: BEND6 [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 BEND6 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 BEND6 |
| 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 BEND6 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_452774 | 6 | 56820169:56820258:56846508:56846728:56857175:56857353 | 56846508:56846728 | ENSG00000151917.13 | ENST00000370746.3,ENST00000370748.3,ENST00000370745.1 |
| exon_skip_452779 | 6 | 56846508:56846728:56857175:56857353:56879930:56879958 | 56857175:56857353 | ENSG00000151917.13 | ENST00000370746.3 |
| exon_skip_452784 | 6 | 56857175:56857353:56879259:56879323:56879930:56879958 | 56879259:56879323 | ENSG00000151917.13 | ENST00000370750.2,ENST00000370745.1 |
| exon_skip_452785 | 6 | 56857175:56857353:56879930:56880151:56882004:56882197 | 56879930:56880151 | ENSG00000151917.13 | ENST00000370746.3 |
| exon_skip_452787 | 6 | 56879930:56880151:56882004:56882197:56883218:56883269 | 56882004:56882197 | ENSG00000151917.13 | ENST00000484701.1,ENST00000370746.3,ENST00000370750.2,ENST00000545789.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for BEND6 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_452774 | 6 | 56820169:56820258:56846508:56846728:56857175:56857353 | 56846508:56846728 | ENSG00000151917.13 | ENST00000370748.3,ENST00000370746.3,ENST00000370745.1 |
| exon_skip_452779 | 6 | 56846508:56846728:56857175:56857353:56879930:56879958 | 56857175:56857353 | ENSG00000151917.13 | ENST00000370746.3 |
| exon_skip_452784 | 6 | 56857175:56857353:56879259:56879323:56879930:56879958 | 56879259:56879323 | ENSG00000151917.13 | ENST00000370750.2,ENST00000370745.1 |
| exon_skip_452785 | 6 | 56857175:56857353:56879930:56880151:56882004:56882197 | 56879930:56880151 | ENSG00000151917.13 | ENST00000370746.3 |
| exon_skip_452787 | 6 | 56879930:56880151:56882004:56882197:56883218:56883269 | 56882004:56882197 | ENSG00000151917.13 | ENST00000370750.2,ENST00000370746.3,ENST00000484701.1,ENST00000545789.1 |
| 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 BEND6 |
| 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 |
| ENST00000370746 | 56846508 | 56846728 | 5CDS-5UTR |
| ENST00000370746 | 56857175 | 56857353 | Frame-shift |
| ENST00000370746 | 56879930 | 56880151 | Frame-shift |
| ENST00000370746 | 56882004 | 56882197 | 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 |
| ENST00000370746 | 56846508 | 56846728 | 5CDS-5UTR |
| ENST00000370746 | 56857175 | 56857353 | Frame-shift |
| ENST00000370746 | 56879930 | 56880151 | Frame-shift |
| ENST00000370746 | 56882004 | 56882197 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for BEND6 |
| 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 BEND6 |
| - 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 |
| STAD | TCGA-BR-8487-01 | exon_skip_452774 | 56846509 | 56846728 | 56846680 | 56846681 | Frame_Shift_Del | AG | - | p.24_24del |
| STAD | TCGA-BR-8487-01 | exon_skip_452774 | 56846509 | 56846728 | 56846680 | 56846681 | Frame_Shift_Del | AG | - | p.T24fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_452779 | 56857176 | 56857353 | 56857291 | 56857291 | Frame_Shift_Del | A | - | p.E79fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_452785 | 56879931 | 56880151 | 56879949 | 56879949 | Frame_Shift_Del | C | - | p.H127fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_452785 | 56879931 | 56880151 | 56879992 | 56879992 | Frame_Shift_Del | G | - | p.K120fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_452787 | 56882005 | 56882197 | 56882144 | 56882144 | Frame_Shift_Del | G | - | p.R220fs |
| BLCA | TCGA-GV-A40E-01 | exon_skip_452787 | 56882005 | 56882197 | 56882036 | 56882037 | Frame_Shift_Ins | - | T | p.C184fs |
| BLCA | TCGA-GV-A40E-01 | exon_skip_452787 | 56882005 | 56882197 | 56882036 | 56882037 | Frame_Shift_Ins | - | T | p.N185fs |
| CESC | TCGA-JX-A3PZ-01 | exon_skip_452774 | 56846509 | 56846728 | 56846694 | 56846694 | Nonsense_Mutation | C | G | p.S29* |
| COAD | TCGA-AZ-4315-01 | exon_skip_452774 | 56846509 | 56846728 | 56846723 | 56846723 | Nonsense_Mutation | G | T | p.G39X |
| LUAD | TCGA-49-4514-01 | exon_skip_452779 | 56857176 | 56857353 | 56857323 | 56857323 | Nonsense_Mutation | C | T | p.R90* |
| TGCT | TCGA-2G-AAKG-05 | exon_skip_452779 | 56857176 | 56857353 | 56857323 | 56857323 | Nonsense_Mutation | C | T | p.R90* |
| TGCT | TCGA-2G-AAKG-05 | exon_skip_452779 | 56857176 | 56857353 | 56857323 | 56857323 | Nonsense_Mutation | C | T | p.R90X |
| BLCA | TCGA-G2-AA3C-01 | exon_skip_452779 | 56857176 | 56857353 | 56857329 | 56857329 | Nonsense_Mutation | C | T | p.R92* |
| BLCA | TCGA-G2-A2EF-01 | exon_skip_452785 | 56879931 | 56880151 | 56880031 | 56880031 | Nonsense_Mutation | G | A | p.W133* |
| UCEC | TCGA-B5-A11E-01 | exon_skip_452785 | 56879931 | 56880151 | 56880153 | 56880153 | Splice_Site | T | G | e3+2 |
| - 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 |
| ESO26_OESOPHAGUS | 56857176 | 56857353 | 56857340 | 56857340 | Frame_Shift_Del | G | - | p.L95fs |
| NCIH446_LUNG | 56846509 | 56846728 | 56846676 | 56846676 | Missense_Mutation | G | T | p.R23I |
| NCIH1341_LUNG | 56846509 | 56846728 | 56846685 | 56846685 | Missense_Mutation | C | T | p.T26I |
| HEC108_ENDOMETRIUM | 56846509 | 56846728 | 56846709 | 56846709 | Missense_Mutation | G | C | p.S34T |
| HCC2998_LARGE_INTESTINE | 56857176 | 56857353 | 56857179 | 56857179 | Missense_Mutation | G | T | p.D42Y |
| HCT15_LARGE_INTESTINE | 56857176 | 56857353 | 56857206 | 56857206 | Missense_Mutation | C | T | p.P51S |
| NCIH650_LUNG | 56857176 | 56857353 | 56857231 | 56857231 | Missense_Mutation | A | T | p.E59V |
| OC316_OVARY | 56879931 | 56880151 | 56879966 | 56879966 | Missense_Mutation | G | A | p.V112I |
| OC314_OVARY | 56879931 | 56880151 | 56879966 | 56879966 | Missense_Mutation | G | A | p.V112I |
| EW8_BONE | 56879931 | 56880151 | 56880045 | 56880045 | Missense_Mutation | A | G | p.N138S |
| RH1_SOFT_TISSUE | 56879931 | 56880151 | 56880045 | 56880045 | Missense_Mutation | A | G | p.N138S |
| CASKI_CERVIX | 56879931 | 56880151 | 56880051 | 56880051 | Missense_Mutation | C | T | p.S140L |
| PATU8988T_PANCREAS | 56879931 | 56880151 | 56880072 | 56880072 | Missense_Mutation | C | A | p.T147K |
| HT115_LARGE_INTESTINE | 56879931 | 56880151 | 56880081 | 56880081 | Missense_Mutation | A | C | p.N150T |
| PLCPRF5_LIVER | 56882005 | 56882197 | 56882030 | 56882030 | Missense_Mutation | C | A | p.A182D |
| SNU1040_LARGE_INTESTINE | 56879931 | 56880151 | 56880150 | 56880150 | Splice_Site | A | G | p.Q173R |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for BEND6 |
| 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 BEND6 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for BEND6 |
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RelatedDrugs for BEND6 |
| 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 BEND6 |
| 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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