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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 GRAMD4 |
 Gene summary |
| Gene information | Gene symbol | GRAMD4 | Gene ID | 23151 |
| Gene name | GRAM domain containing 4 | |
| Synonyms | DIP|dA59H18.1|dJ439F8.1 | |
| Cytomap | 22q13.31 | |
| Type of gene | protein-coding | |
| Description | GRAM domain-containing protein 4death-inducing-protein | |
| Modification date | 20180519 | |
| UniProtAcc | Q6IC98 | |
| Context | PubMed: GRAMD4 [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 GRAMD4 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 GRAMD4 |
| 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 GRAMD4 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_366646 | 22 | 47022657:47022858:47033736:47033857:47054083:47054204 | 47033736:47033857 | ENSG00000075240.12 | ENST00000361034.3,ENST00000406902.1 |
| exon_skip_366649 | 22 | 47033736:47033857:47054083:47054204:47057277:47057339 | 47054083:47054204 | ENSG00000075240.12 | ENST00000361034.3,ENST00000406902.1 |
| exon_skip_366655 | 22 | 47054083:47054204:47057277:47057339:47058936:47059069 | 47057277:47057339 | ENSG00000075240.12 | ENST00000361034.3,ENST00000406902.1 |
| exon_skip_366656 | 22 | 47059003:47059069:47059734:47059760:47059922:47060014 | 47059734:47059760 | ENSG00000075240.12 | ENST00000361034.3,ENST00000406902.1,ENST00000456069.1 |
| exon_skip_366666 | 22 | 47071364:47071449:47072496:47072565:47073043:47075580 | 47072496:47072565 | ENSG00000075240.12 | ENST00000361034.3,ENST00000406902.1,ENST00000408031.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for GRAMD4 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_366646 | 22 | 47022657:47022858:47033736:47033857:47054083:47054204 | 47033736:47033857 | ENSG00000075240.12 | ENST00000406902.1,ENST00000361034.3 |
| exon_skip_366649 | 22 | 47033736:47033857:47054083:47054204:47057277:47057339 | 47054083:47054204 | ENSG00000075240.12 | ENST00000406902.1,ENST00000361034.3 |
| exon_skip_366655 | 22 | 47054083:47054204:47057277:47057339:47058936:47059069 | 47057277:47057339 | ENSG00000075240.12 | ENST00000406902.1,ENST00000361034.3 |
| exon_skip_366656 | 22 | 47059003:47059069:47059734:47059760:47059922:47060014 | 47059734:47059760 | ENSG00000075240.12 | ENST00000406902.1,ENST00000361034.3,ENST00000456069.1 |
| exon_skip_366666 | 22 | 47071364:47071449:47072496:47072565:47073043:47075580 | 47072496:47072565 | ENSG00000075240.12 | ENST00000406902.1,ENST00000361034.3,ENST00000408031.1 |
| 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 GRAMD4 |
| 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 |
| ENST00000361034 | 47033736 | 47033857 | Frame-shift |
| ENST00000406902 | 47033736 | 47033857 | Frame-shift |
| ENST00000361034 | 47054083 | 47054204 | Frame-shift |
| ENST00000406902 | 47054083 | 47054204 | Frame-shift |
| ENST00000361034 | 47057277 | 47057339 | Frame-shift |
| ENST00000406902 | 47057277 | 47057339 | Frame-shift |
| ENST00000361034 | 47059734 | 47059760 | Frame-shift |
| ENST00000406902 | 47059734 | 47059760 | Frame-shift |
| ENST00000361034 | 47072496 | 47072565 | In-frame |
| ENST00000406902 | 47072496 | 47072565 | 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 |
| ENST00000361034 | 47033736 | 47033857 | Frame-shift |
| ENST00000406902 | 47033736 | 47033857 | Frame-shift |
| ENST00000361034 | 47054083 | 47054204 | Frame-shift |
| ENST00000406902 | 47054083 | 47054204 | Frame-shift |
| ENST00000361034 | 47057277 | 47057339 | Frame-shift |
| ENST00000406902 | 47057277 | 47057339 | Frame-shift |
| ENST00000361034 | 47059734 | 47059760 | Frame-shift |
| ENST00000406902 | 47059734 | 47059760 | Frame-shift |
| ENST00000361034 | 47072496 | 47072565 | In-frame |
| ENST00000406902 | 47072496 | 47072565 | In-frame |
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Infer the effects of exon skipping event on protein functional features for GRAMD4 |
| 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 |
| ENST00000361034 | 4333 | 578 | 47072496 | 47072565 | 1603 | 1671 | 521 | 544 |
| ENST00000406902 | 4501 | 578 | 47072496 | 47072565 | 1777 | 1845 | 521 | 544 |
| 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 |
| ENST00000361034 | 4333 | 578 | 47072496 | 47072565 | 1603 | 1671 | 521 | 544 |
| ENST00000406902 | 4501 | 578 | 47072496 | 47072565 | 1777 | 1845 | 521 | 544 |
| 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 |
| Q6IC98 | 521 | 544 | 1 | 578 | Chain | ID=PRO_0000328742;Note=GRAM domain-containing protein 4 |
| Q6IC98 | 521 | 544 | 1 | 578 | Chain | ID=PRO_0000328742;Note=GRAM domain-containing protein 4 |
| Q6IC98 | 521 | 544 | 445 | 523 | Domain | Note=GRAM |
| Q6IC98 | 521 | 544 | 445 | 523 | Domain | Note=GRAM |
| 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 |
| Q6IC98 | 521 | 544 | 1 | 578 | Chain | ID=PRO_0000328742;Note=GRAM domain-containing protein 4 |
| Q6IC98 | 521 | 544 | 1 | 578 | Chain | ID=PRO_0000328742;Note=GRAM domain-containing protein 4 |
| Q6IC98 | 521 | 544 | 445 | 523 | Domain | Note=GRAM |
| Q6IC98 | 521 | 544 | 445 | 523 | Domain | Note=GRAM |
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SNVs in the skipped exons for GRAMD4 |
| - 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. |
GRAMD4_HNSC_exon_skip_366646_psi_boxplot.png |
GRAMD4_LIHC_exon_skip_366646_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 |
| LIHC | TCGA-DD-A3A1-01 | exon_skip_366649 | 47054084 | 47054204 | 47054172 | 47054172 | Frame_Shift_Del | G | - | p.L124fs |
| ESCA | TCGA-LN-A4A9-01 | exon_skip_366666 | 47072497 | 47072565 | 47072525 | 47072525 | Nonsense_Mutation | C | G | p.S531* |
| ESCA | TCGA-LN-A4A9-01 | exon_skip_366666 | 47072497 | 47072565 | 47072525 | 47072525 | Nonsense_Mutation | C | G | p.S531X |
| HNSC | TCGA-CR-7371-01 | exon_skip_366646 | 47033737 | 47033857 | 47033858 | 47033858 | Splice_Site | G | T | p.Q95_splice |
| LIHC | TCGA-ED-A66Y-01 | exon_skip_366646 | 47033737 | 47033857 | 47033858 | 47033858 | Splice_Site | G | C | . |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-CR-7371-01 |
| Cancer type: HNSC | |
| ESID: exon_skip_366646 | |
| Skipped exon start: 47033737 | |
| Skipped exon end: 47033857 | |
| Mutation start: 47033858 | |
| Mutation end: 47033858 | |
| Mutation type: Splice_Site | |
| Reference seq: G | |
| Mutation seq: T | |
| AAchange: p.Q95_splice | |
exon_skip_366646_HNSC_TCGA-CR-7371-01.png | |
exon_skip_383264_HNSC_TCGA-CR-7371-01.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 |
| HEC1A_ENDOMETRIUM | 47033737 | 47033857 | 47033786 | 47033786 | Missense_Mutation | G | A | p.R71Q |
| NCIH1155_LUNG | 47033737 | 47033857 | 47033786 | 47033786 | Missense_Mutation | G | A | p.R71Q |
| HCC1937_BREAST | 47033737 | 47033857 | 47033794 | 47033794 | Missense_Mutation | T | A | p.F74I |
| NCIH720_LUNG | 47033737 | 47033857 | 47033801 | 47033801 | Missense_Mutation | G | C | p.R76P |
| CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 47057278 | 47057339 | 47057291 | 47057291 | Missense_Mutation | A | G | p.M140V |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for GRAMD4 |
| 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 GRAMD4 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for GRAMD4 |
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RelatedDrugs for GRAMD4 |
| 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 GRAMD4 |
| 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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