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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 DIAPH3 |
 Gene summary |
| Gene information | Gene symbol | DIAPH3 | Gene ID | 81624 |
| Gene name | diaphanous related formin 3 | |
| Synonyms | AN|AUNA1|DIA2|DRF3|NSDAN|diap3|mDia2 | |
| Cytomap | 13q21.2 | |
| Type of gene | protein-coding | |
| Description | protein diaphanous homolog 3diaphanous homolog 3 | |
| Modification date | 20180527 | |
| UniProtAcc | Q9NSV4 | |
| Context | PubMed: DIAPH3 [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 DIAPH3 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 DIAPH3 |
| 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 DIAPH3 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_103979 | 13 | 60240874:60240980:60269385:60269579:60270159:60270327 | 60269385:60269579 | ENSG00000139734.13 | ENST00000470420.1 |
| exon_skip_103981 | 13 | 60348861:60348957:60384921:60385057:60407240:60407403 | 60384921:60385057 | ENSG00000139734.13 | ENST00000400319.1,ENST00000377908.2,ENST00000400330.1,ENST00000267215.4,ENST00000400324.4,ENST00000400320.1,ENST00000465066.1 |
| exon_skip_103983 | 13 | 60435540:60435670:60453362:60453602:60485868:60485970 | 60453362:60453602 | ENSG00000139734.13 | ENST00000498416.1,ENST00000400319.1,ENST00000377908.2,ENST00000400330.1,ENST00000267215.4,ENST00000400324.4,ENST00000400320.1,ENST00000465066.1 |
| exon_skip_103986 | 13 | 60544985:60545294:60548485:60548590:60554928:60554993 | 60548485:60548590 | ENSG00000139734.13 | ENST00000498416.1,ENST00000400319.1,ENST00000377908.2,ENST00000400330.1,ENST00000267215.4,ENST00000400324.4,ENST00000400320.1,ENST00000465066.1 |
| exon_skip_103987 | 13 | 60590204:60590279:60616823:60616954:60667761:60667866 | 60616823:60616954 | ENSG00000139734.13 | ENST00000400319.1,ENST00000377908.2,ENST00000400330.1,ENST00000267215.4,ENST00000400324.4 |
| exon_skip_103988 | 13 | 60616823:60616954:60667761:60667866:60686143:60686320 | 60667761:60667866 | ENSG00000139734.13 | ENST00000377908.2,ENST00000400330.1,ENST00000267215.4,ENST00000400324.4 |
| exon_skip_103991 | 13 | 60667761:60667866:60686143:60686320:60707090:60707123 | 60686143:60686320 | ENSG00000139734.13 | ENST00000400330.1,ENST00000267215.4,ENST00000400324.4 |
| exon_skip_103992 | 13 | 60667761:60667866:60686143:60686320:60737720:60737900 | 60686143:60686320 | ENSG00000139734.13 | ENST00000377908.2 |
| exon_skip_103994 | 13 | 60686143:60686320:60707090:60707123:60737720:60737900 | 60707090:60707123 | ENSG00000139734.13 | ENST00000400330.1,ENST00000267215.4 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for DIAPH3 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_103979 | 13 | 60240874:60240980:60269385:60269579:60270159:60270327 | 60269385:60269579 | ENSG00000139734.13 | ENST00000470420.1 |
| exon_skip_103981 | 13 | 60348861:60348957:60384921:60385057:60407240:60407403 | 60384921:60385057 | ENSG00000139734.13 | ENST00000400324.4,ENST00000400330.1,ENST00000377908.2,ENST00000400319.1,ENST00000400320.1,ENST00000267215.4,ENST00000465066.1 |
| exon_skip_103983 | 13 | 60435540:60435670:60453362:60453602:60485868:60485970 | 60453362:60453602 | ENSG00000139734.13 | ENST00000400324.4,ENST00000400330.1,ENST00000377908.2,ENST00000400319.1,ENST00000400320.1,ENST00000267215.4,ENST00000465066.1,ENST00000498416.1 |
| exon_skip_103986 | 13 | 60544985:60545294:60548485:60548590:60554928:60554993 | 60548485:60548590 | ENSG00000139734.13 | ENST00000400324.4,ENST00000400330.1,ENST00000377908.2,ENST00000400319.1,ENST00000400320.1,ENST00000267215.4,ENST00000465066.1,ENST00000498416.1 |
| exon_skip_103988 | 13 | 60616823:60616954:60667761:60667866:60686143:60686320 | 60667761:60667866 | ENSG00000139734.13 | ENST00000400324.4,ENST00000400330.1,ENST00000377908.2,ENST00000267215.4 |
| exon_skip_103989 | 13 | 60616823:60616954:60667761:60667866:60737720:60737900 | 60667761:60667866 | ENSG00000139734.13 | ENST00000400319.1 |
| exon_skip_103990 | 13 | 60616823:60616954:60686143:60686320:60737720:60737900 | 60686143:60686320 | ENSG00000139734.13 | ENST00000400320.1 |
| exon_skip_103991 | 13 | 60667761:60667866:60686143:60686320:60707090:60707123 | 60686143:60686320 | ENSG00000139734.13 | ENST00000400324.4,ENST00000400330.1,ENST00000267215.4 |
| exon_skip_103992 | 13 | 60667761:60667866:60686143:60686320:60737720:60737900 | 60686143:60686320 | ENSG00000139734.13 | ENST00000377908.2 |
| exon_skip_103994 | 13 | 60686143:60686320:60707090:60707123:60737720:60737900 | 60707090:60707123 | ENSG00000139734.13 | ENST00000400330.1,ENST00000267215.4 |
| 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 DIAPH3 |
| 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 |
| ENST00000465066 | 60384921 | 60385057 | 3UTR-3UTR |
| ENST00000465066 | 60453362 | 60453602 | 3UTR-3UTR |
| ENST00000465066 | 60548485 | 60548590 | 3UTR-3UTR |
| 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 |
| ENST00000465066 | 60384921 | 60385057 | 3UTR-3UTR |
| ENST00000465066 | 60453362 | 60453602 | 3UTR-3UTR |
| ENST00000465066 | 60548485 | 60548590 | 3UTR-3UTR |
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Infer the effects of exon skipping event on protein functional features for DIAPH3 |
| 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 DIAPH3 |
| - 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. |
DIAPH3_SKCM_exon_skip_103986_psi_boxplot.png |
| - 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-4361-01 | exon_skip_103981 | 60384922 | 60385057 | 60385030 | 60385030 | Frame_Shift_Del | T | - | p.R1019fs |
| UCEC | TCGA-AP-A0LT-01 | exon_skip_103981 | 60384922 | 60385057 | 60385030 | 60385030 | Frame_Shift_Del | T | - | p.R1019fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_103983 | 60453363 | 60453602 | 60453529 | 60453529 | Frame_Shift_Del | T | - | p.N815fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_103988 | 60667762 | 60667866 | 60667801 | 60667801 | Frame_Shift_Del | T | - | p.K152fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_103988 | 60667762 | 60667866 | 60667801 | 60667801 | Frame_Shift_Del | T | - | p.K152fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_103988 | 60667762 | 60667866 | 60667838 | 60667838 | Frame_Shift_Del | T | - | p.K140fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_103991 exon_skip_103992 | 60686144 | 60686320 | 60686214 | 60686214 | Frame_Shift_Del | A | - | p.L107fs |
| UCEC | TCGA-D1-A17Q-01 | exon_skip_103981 | 60384922 | 60385057 | 60384934 | 60384934 | Nonsense_Mutation | C | A | p.E1051* |
| CESC | TCGA-C5-A2LZ-01 | exon_skip_103983 | 60453363 | 60453602 | 60453398 | 60453398 | Nonsense_Mutation | G | A | p.Q858* |
| LUAD | TCGA-78-7536-01 | exon_skip_103987 | 60616824 | 60616954 | 60616906 | 60616906 | Nonsense_Mutation | C | A | p.E182* |
| SKCM | TCGA-EE-A29E-06 | exon_skip_103986 | 60548486 | 60548590 | 60548485 | 60548485 | Splice_Site | C | T | . |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-EE-A29E-06 |
| Cancer type: SKCM | |
| ESID: exon_skip_103986 | |
| Skipped exon start: 60548486 | |
| Skipped exon end: 60548590 | |
| Mutation start: 60548485 | |
| Mutation end: 60548485 | |
| Mutation type: Splice_Site | |
| Reference seq: C | |
| Mutation seq: T | |
| AAchange: . | |
exon_skip_103986_SKCM_TCGA-EE-A29E-06.png | |
exon_skip_322370_SKCM_TCGA-EE-A29E-06.png | |
| - 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 |
| 2313287_STOMACH | 60384922 | 60385057 | 60385030 | 60385030 | Frame_Shift_Del | T | - | p.R1019fs |
| SNGM_ENDOMETRIUM | 60384922 | 60385057 | 60385030 | 60385030 | Frame_Shift_Del | T | - | p.R1019fs |
| ONS76_CENTRAL_NERVOUS_SYSTEM | 60384922 | 60385057 | 60385035 | 60385035 | Missense_Mutation | T | C | p.K1017R |
| HCT15_LARGE_INTESTINE | 60384922 | 60385057 | 60385054 | 60385054 | Missense_Mutation | C | T | p.A1011T |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 60453363 | 60453602 | 60453383 | 60453383 | Missense_Mutation | T | C | p.N863D |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 60453363 | 60453602 | 60453383 | 60453383 | Missense_Mutation | T | C | p.N863D |
| OCIAML5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 60453363 | 60453602 | 60453383 | 60453383 | Missense_Mutation | T | C | p.N863D |
| CORL321_PLEURA | 60453363 | 60453602 | 60453415 | 60453415 | Missense_Mutation | G | T | p.A852D |
| SNUC4_LARGE_INTESTINE | 60453363 | 60453602 | 60453424 | 60453424 | Missense_Mutation | T | C | p.Y849C |
| MN60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 60453363 | 60453602 | 60453443 | 60453443 | Missense_Mutation | C | T | p.V843I |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 60453363 | 60453602 | 60453467 | 60453467 | Missense_Mutation | T | C | p.S835G |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 60453363 | 60453602 | 60453467 | 60453467 | Missense_Mutation | T | C | p.S835G |
| HEC1_ENDOMETRIUM | 60453363 | 60453602 | 60453575 | 60453575 | Missense_Mutation | G | A | p.R799W |
| HEC1B_ENDOMETRIUM | 60453363 | 60453602 | 60453575 | 60453575 | Missense_Mutation | G | A | p.R799W |
| UO31_KIDNEY | 60548486 | 60548590 | 60548567 | 60548567 | Missense_Mutation | G | T | p.H523Q |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 60667762 | 60667866 | 60667812 | 60667812 | Missense_Mutation | T | C | p.S149G |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 60667762 | 60667866 | 60667812 | 60667812 | Missense_Mutation | T | C | p.S149G |
| OCIAML5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 60667762 | 60667866 | 60667812 | 60667812 | Missense_Mutation | T | C | p.S149G |
| HT115_LARGE_INTESTINE | 60686144 | 60686320 | 60686173 | 60686173 | Nonsense_Mutation | C | A | p.E121* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for DIAPH3 |
| 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 DIAPH3 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for DIAPH3 |
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RelatedDrugs for DIAPH3 |
| 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 DIAPH3 |
| 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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