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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 FRMD8 |
 Gene summary |
| Gene information | Gene symbol | FRMD8 | Gene ID | 83786 |
| Gene name | FERM domain containing 8 | |
| Synonyms | FKSG44 | |
| Cytomap | 11q13.1 | |
| Type of gene | protein-coding | |
| Description | FERM domain-containing protein 8 | |
| Modification date | 20180519 | |
| UniProtAcc | Q9BZ67 | |
| Context | PubMed: FRMD8 [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 FRMD8 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 FRMD8 |
| 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 FRMD8 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_60996 | 11 | 65154507:65154592:65156831:65156999:65161043:65161061 | 65156831:65156999 | ENSG00000126391.9 | ENST00000317568.5,ENST00000528854.1,ENST00000525156.1 |
| exon_skip_60997 | 11 | 65154507:65154592:65156831:65156999:65161511:65161570 | 65156831:65156999 | ENSG00000126391.9 | ENST00000416776.2 |
| exon_skip_61001 | 11 | 65154507:65154592:65156855:65156999:65161511:65161570 | 65156855:65156999 | ENSG00000126391.9 | ENST00000526201.1 |
| exon_skip_61004 | 11 | 65154507:65154592:65161043:65161145:65161511:65161570 | 65161043:65161145 | ENSG00000126391.9 | ENST00000533782.1,ENST00000355991.5 |
| exon_skip_61014 | 11 | 65156855:65156999:65161043:65161145:65161511:65161570 | 65161043:65161145 | ENSG00000126391.9 | ENST00000317568.5 |
| exon_skip_61018 | 11 | 65156855:65156999:65161511:65161570:65161729:65161896 | 65161511:65161570 | ENSG00000126391.9 | ENST00000526201.1,ENST00000416776.2 |
| exon_skip_61020 | 11 | 65161732:65161896:65164269:65164491:65167206:65167330 | 65164269:65164491 | ENSG00000126391.9 | ENST00000317568.5,ENST00000416776.2,ENST00000531151.1,ENST00000355991.5 |
| exon_skip_61021 | 11 | 65168194:65168338:65172334:65172539:65178712:65179251 | 65172334:65172539 | ENSG00000126391.9 | ENST00000317568.5,ENST00000416776.2,ENST00000355991.5 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for FRMD8 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_60996 | 11 | 65154507:65154592:65156831:65156999:65161043:65161061 | 65156831:65156999 | ENSG00000126391.9 | ENST00000317568.5,ENST00000528854.1,ENST00000525156.1 |
| exon_skip_60997 | 11 | 65154507:65154592:65156831:65156999:65161511:65161570 | 65156831:65156999 | ENSG00000126391.9 | ENST00000416776.2 |
| exon_skip_61001 | 11 | 65154507:65154592:65156855:65156999:65161511:65161570 | 65156855:65156999 | ENSG00000126391.9 | ENST00000526201.1 |
| exon_skip_61004 | 11 | 65154507:65154592:65161043:65161145:65161511:65161570 | 65161043:65161145 | ENSG00000126391.9 | ENST00000533782.1,ENST00000355991.5 |
| exon_skip_61014 | 11 | 65156855:65156999:65161043:65161145:65161511:65161570 | 65161043:65161145 | ENSG00000126391.9 | ENST00000317568.5 |
| exon_skip_61018 | 11 | 65156855:65156999:65161511:65161570:65161729:65161896 | 65161511:65161570 | ENSG00000126391.9 | ENST00000416776.2,ENST00000526201.1 |
| exon_skip_61020 | 11 | 65161732:65161896:65164269:65164491:65167206:65167330 | 65164269:65164491 | ENSG00000126391.9 | ENST00000317568.5,ENST00000355991.5,ENST00000416776.2,ENST00000531151.1 |
| 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 FRMD8 |
| 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 |
| ENST00000317568 | 65172334 | 65172539 | Frame-shift |
| ENST00000317568 | 65156831 | 65156999 | In-frame |
| ENST00000317568 | 65161043 | 65161145 | In-frame |
| ENST00000317568 | 65164269 | 65164491 | 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 |
| ENST00000317568 | 65156831 | 65156999 | In-frame |
| ENST00000317568 | 65161043 | 65161145 | In-frame |
| ENST00000317568 | 65164269 | 65164491 | In-frame |
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Infer the effects of exon skipping event on protein functional features for FRMD8 |
| 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 |
| ENST00000317568 | 3740 | 464 | 65156831 | 65156999 | 249 | 416 | 28 | 84 |
| ENST00000317568 | 3740 | 464 | 65161043 | 65161145 | 417 | 518 | 84 | 118 |
| ENST00000317568 | 3740 | 464 | 65164269 | 65164491 | 745 | 966 | 194 | 267 |
| 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 |
| ENST00000317568 | 3740 | 464 | 65156831 | 65156999 | 249 | 416 | 28 | 84 |
| ENST00000317568 | 3740 | 464 | 65161043 | 65161145 | 417 | 518 | 84 | 118 |
| ENST00000317568 | 3740 | 464 | 65164269 | 65164491 | 745 | 966 | 194 | 267 |
| 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 |
| Q9BZ67 | 28 | 84 | 29 | 84 | Alternative sequence | ID=VSP_027085;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q9BZ67 | 28 | 84 | 1 | 464 | Chain | ID=PRO_0000295778;Note=FERM domain-containing protein 8 |
| Q9BZ67 | 28 | 84 | 30 | 376 | Domain | Note=FERM;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00084 |
| Q9BZ67 | 84 | 118 | 29 | 84 | Alternative sequence | ID=VSP_027085;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q9BZ67 | 84 | 118 | 85 | 118 | Alternative sequence | ID=VSP_056059;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q9BZ67 | 84 | 118 | 1 | 464 | Chain | ID=PRO_0000295778;Note=FERM domain-containing protein 8 |
| Q9BZ67 | 84 | 118 | 30 | 376 | Domain | Note=FERM;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00084 |
| Q9BZ67 | 194 | 267 | 1 | 464 | Chain | ID=PRO_0000295778;Note=FERM domain-containing protein 8 |
| Q9BZ67 | 194 | 267 | 30 | 376 | Domain | Note=FERM;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00084 |
| Q9BZ67 | 194 | 267 | 198 | 198 | Sequence conflict | Note=D->N;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| 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 |
| Q9BZ67 | 28 | 84 | 29 | 84 | Alternative sequence | ID=VSP_027085;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q9BZ67 | 28 | 84 | 1 | 464 | Chain | ID=PRO_0000295778;Note=FERM domain-containing protein 8 |
| Q9BZ67 | 28 | 84 | 30 | 376 | Domain | Note=FERM;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00084 |
| Q9BZ67 | 84 | 118 | 29 | 84 | Alternative sequence | ID=VSP_027085;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q9BZ67 | 84 | 118 | 85 | 118 | Alternative sequence | ID=VSP_056059;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q9BZ67 | 84 | 118 | 1 | 464 | Chain | ID=PRO_0000295778;Note=FERM domain-containing protein 8 |
| Q9BZ67 | 84 | 118 | 30 | 376 | Domain | Note=FERM;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00084 |
| Q9BZ67 | 194 | 267 | 1 | 464 | Chain | ID=PRO_0000295778;Note=FERM domain-containing protein 8 |
| Q9BZ67 | 194 | 267 | 30 | 376 | Domain | Note=FERM;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00084 |
| Q9BZ67 | 194 | 267 | 198 | 198 | Sequence conflict | Note=D->N;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
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SNVs in the skipped exons for FRMD8 |
| - 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 |
| HNSC | TCGA-CQ-7069-01 | exon_skip_60996 exon_skip_60997 exon_skip_61001 | 65156832 | 65156999 | 65156899 | 65156899 | Frame_Shift_Del | G | - | p.S51fs |
| HNSC | TCGA-CQ-7069-01 | exon_skip_60996 exon_skip_60997 exon_skip_61001 | 65156856 | 65156999 | 65156899 | 65156899 | Frame_Shift_Del | G | - | p.S51fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_61021 | 65172335 | 65172539 | 65172379 | 65172379 | Frame_Shift_Del | C | - | p.S372fs |
| KICH | TCGA-KO-8404-01 | exon_skip_61018 | 65161512 | 65161570 | 65161559 | 65161560 | Frame_Shift_Ins | - | G | p.R135fs |
| KICH | TCGA-KO-8407-01 | exon_skip_61021 | 65172335 | 65172539 | 65172422 | 65172423 | Frame_Shift_Ins | - | C | p.S387fs |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-CQ-7069-01 |
| Cancer type: HNSC | |
| ESID: exon_skip_61001 | |
| Skipped exon start: 65156832 | |
| Skipped exon end: 65156999 | |
| Mutation start: 65156899 | |
| Mutation end: 65156899 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: G | |
| Mutation seq: - | |
| AAchange: p.S51fs | |
| Sample: TCGA-CQ-7069-01 |
| Cancer type: HNSC | |
| ESID: exon_skip_61001 | |
| Skipped exon start: 65156856 | |
| Skipped exon end: 65156999 | |
| Mutation start: 65156899 | |
| Mutation end: 65156899 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: G | |
| Mutation seq: - | |
| AAchange: p.S51fs | |
exon_skip_60996_HNSC_TCGA-CQ-7069-01.png | |
exon_skip_60997_HNSC_TCGA-CQ-7069-01.png | |
exon_skip_61001_HNSC_TCGA-CQ-7069-01.png | |
 | Sample: TCGA-CQ-7069-01 |
| Cancer type: HNSC | |
| ESID: exon_skip_61001 | |
| Skipped exon start: 65156832 | |
| Skipped exon end: 65156999 | |
| Mutation start: 65156899 | |
| Mutation end: 65156899 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: G | |
| Mutation seq: - | |
| AAchange: p.S51fs | |
| Sample: TCGA-CQ-7069-01 |
| Cancer type: HNSC | |
| ESID: exon_skip_61001 | |
| Skipped exon start: 65156856 | |
| Skipped exon end: 65156999 | |
| Mutation start: 65156899 | |
| Mutation end: 65156899 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: G | |
| Mutation seq: - | |
| AAchange: p.S51fs | |
| exon_skip_60996_HNSC_TCGA-CQ-7069-01.png | |
| exon_skip_60997_HNSC_TCGA-CQ-7069-01.png | |
| exon_skip_61001_HNSC_TCGA-CQ-7069-01.png | |
 | Sample: TCGA-CQ-7069-01 |
| Cancer type: HNSC | |
| ESID: exon_skip_61001 | |
| Skipped exon start: 65156832 | |
| Skipped exon end: 65156999 | |
| Mutation start: 65156899 | |
| Mutation end: 65156899 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: G | |
| Mutation seq: - | |
| AAchange: p.S51fs | |
| Sample: TCGA-CQ-7069-01 |
| Cancer type: HNSC | |
| ESID: exon_skip_61001 | |
| Skipped exon start: 65156856 | |
| Skipped exon end: 65156999 | |
| Mutation start: 65156899 | |
| Mutation end: 65156899 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: G | |
| Mutation seq: - | |
| AAchange: p.S51fs | |
| exon_skip_60996_HNSC_TCGA-CQ-7069-01.png | |
| exon_skip_60997_HNSC_TCGA-CQ-7069-01.png | |
| exon_skip_61001_HNSC_TCGA-CQ-7069-01.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 |
| SW48_LARGE_INTESTINE | 65164270 | 65164491 | 65164321 | 65164322 | Frame_Shift_Del | TC | - | p.L212fs |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 65156832 | 65156999 | 65156843 | 65156843 | Missense_Mutation | C | G | p.L33V |
| JHU022_UPPER_AERODIGESTIVE_TRACT | 65156832 | 65156999 | 65156865 | 65156865 | Missense_Mutation | C | T | p.T40M |
| JHU022_UPPER_AERODIGESTIVE_TRACT | 65156856 | 65156999 | 65156865 | 65156865 | Missense_Mutation | C | T | p.T40M |
| SW48_LARGE_INTESTINE | 65156832 | 65156999 | 65156907 | 65156907 | Missense_Mutation | C | A | p.A54D |
| SW48_LARGE_INTESTINE | 65156856 | 65156999 | 65156907 | 65156907 | Missense_Mutation | C | A | p.A54D |
| HCT15_LARGE_INTESTINE | 65156832 | 65156999 | 65156922 | 65156922 | Missense_Mutation | G | A | p.R59H |
| HCT15_LARGE_INTESTINE | 65156856 | 65156999 | 65156922 | 65156922 | Missense_Mutation | G | A | p.R59H |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 65156832 | 65156999 | 65156957 | 65156957 | Missense_Mutation | G | A | p.A71T |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 65156856 | 65156999 | 65156957 | 65156957 | Missense_Mutation | G | A | p.A71T |
| KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 65161512 | 65161570 | 65161533 | 65161533 | Missense_Mutation | G | A | p.R126Q |
| 647V_URINARY_TRACT | 65161512 | 65161570 | 65161556 | 65161556 | Missense_Mutation | C | T | p.R134W |
| RCHACV_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 65164270 | 65164491 | 65164289 | 65164289 | Missense_Mutation | C | A | p.L201I |
| CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 65164270 | 65164491 | 65164338 | 65164338 | Missense_Mutation | G | T | p.R217L |
| HMVII_SKIN | 65164270 | 65164491 | 65164346 | 65164346 | Missense_Mutation | G | A | p.G220R |
| JHH7_LIVER | 65164270 | 65164491 | 65164470 | 65164470 | Missense_Mutation | G | C | p.C261S |
| HCC1438_LUNG | 65172335 | 65172539 | 65172530 | 65172530 | Missense_Mutation | G | A | p.V423M |
| EFO27_OVARY | 65161044 | 65161145 | 65161045 | 65161045 | Splice_Site | G | A | p.E85E |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for FRMD8 |
| 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 FRMD8 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for FRMD8 |
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RelatedDrugs for FRMD8 |
| 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 FRMD8 |
| 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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