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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 DNMT3B |
 Gene summary |
| Gene information | Gene symbol | DNMT3B | Gene ID | 1789 |
| Gene name | DNA methyltransferase 3 beta | |
| Synonyms | ICF|ICF1|M.HsaIIIB | |
| Cytomap | 20q11.21 | |
| Type of gene | protein-coding | |
| Description | DNA (cytosine-5)-methyltransferase 3BDNA (cytosine-5-)-methyltransferase 3 betaDNA MTase HsaIIIBDNA cytosine-5--methyltransferase 3 betaDNA methyltransferase HsaIIIB | |
| Modification date | 20180522 | |
| UniProtAcc | Q9UBC3 | |
| Context | PubMed: DNMT3B [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 |
| DNMT3B | GO:0000122 | negative regulation of transcription by RNA polymerase II | 17303076 |
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Exon skipping events across known transcript of Ensembl for DNMT3B 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 DNMT3B |
| 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 DNMT3B |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_350112 | 20 | 31369158:31369220:31372563:31372665:31374307:31374433 | 31372563:31372665 | ENSG00000088305.14 | ENST00000348286.2,ENST00000328111.2,ENST00000353855.2,ENST00000201963.3,ENST00000344505.4 |
| exon_skip_350113 | 20 | 31369158:31369220:31372563:31372665:31375035:31375257 | 31372563:31372665 | ENSG00000088305.14 | ENST00000443239.3,ENST00000375623.4 |
| exon_skip_350115 | 20 | 31372563:31372665:31374307:31374433:31375035:31375257 | 31374307:31374433 | ENSG00000088305.14 | ENST00000348286.2,ENST00000328111.2,ENST00000353855.2,ENST00000201963.3,ENST00000344505.4 |
| exon_skip_350117 | 20 | 31375035:31375257:31376659:31376818:31379406:31379514 | 31376659:31376818 | ENSG00000088305.14 | ENST00000348286.2,ENST00000328111.2,ENST00000353855.2,ENST00000443239.3,ENST00000375623.4,ENST00000201963.3,ENST00000456297.2,ENST00000344505.4 |
| exon_skip_350122 | 20 | 31376659:31376818:31379406:31379514:31383214:31383340 | 31379406:31379514 | ENSG00000088305.14 | ENST00000375623.4 |
| exon_skip_350126 | 20 | 31379406:31379514:31380431:31380576:31383214:31383340 | 31380431:31380576 | ENSG00000088305.14 | ENST00000348286.2,ENST00000353855.2,ENST00000443239.3,ENST00000201963.3,ENST00000456297.2,ENST00000344505.4 |
| exon_skip_350128 | 20 | 31380431:31380576:31381341:31381401:31383214:31383340 | 31381341:31381401 | ENSG00000088305.14 | ENST00000328111.2 |
| exon_skip_350133 | 20 | 31390190:31390276:31393143:31393213:31394014:31394133 | 31393143:31393213 | ENSG00000088305.14 | ENST00000328111.2,ENST00000353855.2,ENST00000201963.3 |
| exon_skip_350134 | 20 | 31390190:31390276:31393143:31393213:31395567:31395875 | 31393143:31393213 | ENSG00000088305.14 | ENST00000344505.4 |
| exon_skip_350137 | 20 | 31393143:31393213:31394014:31394133:31395567:31395875 | 31394014:31394133 | ENSG00000088305.14 | ENST00000328111.2,ENST00000353855.2,ENST00000201963.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for DNMT3B |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_350112 | 20 | 31369158:31369220:31372563:31372665:31374307:31374433 | 31372563:31372665 | ENSG00000088305.14 | ENST00000328111.2,ENST00000353855.2,ENST00000348286.2,ENST00000344505.4,ENST00000201963.3 |
| exon_skip_350113 | 20 | 31369158:31369220:31372563:31372665:31375035:31375257 | 31372563:31372665 | ENSG00000088305.14 | ENST00000443239.3,ENST00000375623.4 |
| exon_skip_350115 | 20 | 31372563:31372665:31374307:31374433:31375035:31375257 | 31374307:31374433 | ENSG00000088305.14 | ENST00000328111.2,ENST00000353855.2,ENST00000348286.2,ENST00000344505.4,ENST00000201963.3 |
| exon_skip_350117 | 20 | 31375035:31375257:31376659:31376818:31379406:31379514 | 31376659:31376818 | ENSG00000088305.14 | ENST00000328111.2,ENST00000353855.2,ENST00000348286.2,ENST00000443239.3,ENST00000344505.4,ENST00000375623.4,ENST00000456297.2,ENST00000201963.3 |
| exon_skip_350122 | 20 | 31376659:31376818:31379406:31379514:31383214:31383340 | 31379406:31379514 | ENSG00000088305.14 | ENST00000375623.4 |
| exon_skip_350126 | 20 | 31379406:31379514:31380431:31380576:31383214:31383340 | 31380431:31380576 | ENSG00000088305.14 | ENST00000353855.2,ENST00000348286.2,ENST00000443239.3,ENST00000344505.4,ENST00000456297.2,ENST00000201963.3 |
| exon_skip_350128 | 20 | 31380431:31380576:31381341:31381401:31383214:31383340 | 31381341:31381401 | ENSG00000088305.14 | ENST00000328111.2 |
| exon_skip_350133 | 20 | 31390190:31390276:31393143:31393213:31394014:31394133 | 31393143:31393213 | ENSG00000088305.14 | ENST00000328111.2,ENST00000353855.2,ENST00000201963.3 |
| exon_skip_350134 | 20 | 31390190:31390276:31393143:31393213:31395567:31395875 | 31393143:31393213 | ENSG00000088305.14 | ENST00000344505.4 |
| exon_skip_350137 | 20 | 31393143:31393213:31394014:31394133:31395567:31395875 | 31394014:31394133 | ENSG00000088305.14 | ENST00000328111.2,ENST00000353855.2,ENST00000201963.3 |
| 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 DNMT3B |
| 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 |
| ENST00000328111 | 31393143 | 31393213 | Frame-shift |
| ENST00000328111 | 31394014 | 31394133 | Frame-shift |
| ENST00000328111 | 31372563 | 31372665 | In-frame |
| ENST00000328111 | 31374307 | 31374433 | In-frame |
| ENST00000328111 | 31376659 | 31376818 | In-frame |
| ENST00000328111 | 31381341 | 31381401 | 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 |
| ENST00000328111 | 31393143 | 31393213 | Frame-shift |
| ENST00000328111 | 31394014 | 31394133 | Frame-shift |
| ENST00000328111 | 31372563 | 31372665 | In-frame |
| ENST00000328111 | 31374307 | 31374433 | In-frame |
| ENST00000328111 | 31376659 | 31376818 | In-frame |
| ENST00000328111 | 31381341 | 31381401 | In-frame |
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Infer the effects of exon skipping event on protein functional features for DNMT3B |
| 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 |
| ENST00000328111 | 4353 | 853 | 31372563 | 31372665 | 526 | 627 | 68 | 102 |
| ENST00000328111 | 4353 | 853 | 31374307 | 31374433 | 628 | 753 | 102 | 144 |
| ENST00000328111 | 4353 | 853 | 31376659 | 31376818 | 976 | 1134 | 218 | 271 |
| ENST00000328111 | 4353 | 853 | 31381341 | 31381401 | 1388 | 1447 | 355 | 375 |
| 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 |
| ENST00000328111 | 4353 | 853 | 31372563 | 31372665 | 526 | 627 | 68 | 102 |
| ENST00000328111 | 4353 | 853 | 31374307 | 31374433 | 628 | 753 | 102 | 144 |
| ENST00000328111 | 4353 | 853 | 31376659 | 31376818 | 976 | 1134 | 218 | 271 |
| ENST00000328111 | 4353 | 853 | 31381341 | 31381401 | 1388 | 1447 | 355 | 375 |
| 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 DNMT3B |
| - 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 |
| COAD | TCGA-AZ-4315-01 | exon_skip_350115 | 31374308 | 31374433 | 31374311 | 31374311 | Nonsense_Mutation | C | T | p.R104X |
| SKCM | TCGA-EE-A2MI-06 | exon_skip_350115 | 31374308 | 31374433 | 31374317 | 31374317 | Nonsense_Mutation | C | T | p.R106* |
| SKCM | TCGA-EE-A2MI-06 | exon_skip_350115 | 31374308 | 31374433 | 31374317 | 31374317 | Nonsense_Mutation | C | T | p.R106X |
| READ | TCGA-F5-6814-01 | exon_skip_350122 | 31379407 | 31379514 | 31379488 | 31379488 | Nonsense_Mutation | C | T | p.R299X |
| UCEC | TCGA-AX-A0J0-01 | exon_skip_350122 | 31379407 | 31379514 | 31379488 | 31379488 | Nonsense_Mutation | C | T | p.R299* |
| STAD | TCGA-BR-8487-01 | exon_skip_350126 | 31380432 | 31380576 | 31380444 | 31380444 | Nonsense_Mutation | C | T | p.R312* |
| READ | TCGA-AG-3592-01 | exon_skip_350113 exon_skip_350112 | 31372564 | 31372665 | 31372666 | 31372666 | Splice_Site | G | C | . |
| UCS | TCGA-N7-A59B-01 | exon_skip_350128 | 31381342 | 31381401 | 31381340 | 31381340 | Splice_Site | A | G | . |
| - 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 |
| LUDLU1_LUNG | 31394015 | 31394133 | 31394100 | 31394102 | In_Frame_Del | AAG | - | p.E797del |
| GP2D_LARGE_INTESTINE | 31372564 | 31372665 | 31372607 | 31372607 | Missense_Mutation | A | G | p.D83G |
| GP5D_LARGE_INTESTINE | 31372564 | 31372665 | 31372607 | 31372607 | Missense_Mutation | A | G | p.D83G |
| IM95_STOMACH | 31374308 | 31374433 | 31374312 | 31374312 | Missense_Mutation | G | A | p.R104Q |
| ISTMEL1_SKIN | 31374308 | 31374433 | 31374336 | 31374336 | Missense_Mutation | C | T | p.S112F |
| VAL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 31374308 | 31374433 | 31374342 | 31374342 | Missense_Mutation | G | A | p.R114Q |
| ASH3_THYROID | 31374308 | 31374433 | 31374413 | 31374413 | Missense_Mutation | G | A | p.V138M |
| DBTRG05MG_CENTRAL_NERVOUS_SYSTEM | 31376660 | 31376818 | 31376664 | 31376664 | Missense_Mutation | G | A | p.G220E |
| R262_CENTRAL_NERVOUS_SYSTEM | 31376660 | 31376818 | 31376672 | 31376672 | Missense_Mutation | T | G | p.F223V |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 31379407 | 31379514 | 31379444 | 31379444 | Missense_Mutation | G | A | p.S284N |
| SW48_LARGE_INTESTINE | 31379407 | 31379514 | 31379499 | 31379499 | Missense_Mutation | G | A | p.M302I |
| HEC108_ENDOMETRIUM | 31379407 | 31379514 | 31379500 | 31379500 | Missense_Mutation | T | C | p.Y303H |
| SNU407_LARGE_INTESTINE | 31380432 | 31380576 | 31380451 | 31380451 | Missense_Mutation | G | A | p.G314D |
| NCIH630_LARGE_INTESTINE | 31380432 | 31380576 | 31380472 | 31380472 | Missense_Mutation | C | T | p.P321L |
| HEC59_ENDOMETRIUM | 31380432 | 31380576 | 31380489 | 31380489 | Missense_Mutation | G | A | p.D327N |
| RKO_LARGE_INTESTINE | 31380432 | 31380576 | 31380508 | 31380508 | Missense_Mutation | T | C | p.L333S |
| HRT18_LARGE_INTESTINE | 31380432 | 31380576 | 31380546 | 31380546 | Missense_Mutation | G | A | p.E346K |
| SW48_LARGE_INTESTINE | 31393144 | 31393213 | 31393184 | 31393184 | Missense_Mutation | G | A | p.D758N |
| SW1271_LUNG | 31394015 | 31394133 | 31394062 | 31394062 | Missense_Mutation | G | T | p.Q783H |
| MCC13_SKIN | 31394015 | 31394133 | 31394081 | 31394081 | Missense_Mutation | C | T | p.P790S |
| MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 31380432 | 31380576 | 31380444 | 31380444 | Nonsense_Mutation | C | T | p.R312* |
| CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 31380432 | 31380576 | 31380492 | 31380492 | Nonsense_Mutation | C | T | p.Q328* |
| 2313287_STOMACH | 31393144 | 31393213 | 31393144 | 31393144 | Splice_Site | G | A | p.R744R |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for DNMT3B |
| 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 DNMT3B |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for DNMT3B |
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RelatedDrugs for DNMT3B |
| 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 DNMT3B |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| DNMT3B | C0398788 | Immunodeficiency syndrome, variable | 10 | CTD_human;UNIPROT |
| DNMT3B | C1458155 | Mammary Neoplasms | 2 | CTD_human |
| DNMT3B | C0021051 | Immunologic Deficiency Syndromes | 1 | CTD_human;HPO |
| DNMT3B | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
| DNMT3B | C0036341 | Schizophrenia | 1 | PSYGENET |
| DNMT3B | C0038356 | Stomach Neoplasms | 1 | CTD_human |
| DNMT3B | C0376634 | Craniofacial Abnormalities | 1 | CTD_human |
| DNMT3B | C0525045 | Mood Disorders | 1 | PSYGENET |
| DNMT3B | C1510586 | Autism Spectrum Disorders | 1 | CTD_human |
| DNMT3B | C1656427 | early onset schizophrenia | 1 | PSYGENET |
| DNMT3B | C1834671 | FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B | 1 | UNIPROT |
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