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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 FERMT3 |
 Gene summary |
| Gene information | Gene symbol | FERMT3 | Gene ID | 83706 |
| Gene name | fermitin family member 3 | |
| Synonyms | KIND3|MIG-2|MIG2B|UNC112C|URP2|URP2SF | |
| Cytomap | 11q13.1 | |
| Type of gene | protein-coding | |
| Description | fermitin family homolog 3MIG2-like proteinUNC-112 related protein 2kindlin 3unc-112-related protein 2 | |
| Modification date | 20180519 | |
| UniProtAcc | Q86UX7 | |
| Context | PubMed: FERMT3 [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 |
| FERMT3 | GO:0030335 | positive regulation of cell migration | 19234463 |
| FERMT3 | GO:0033622 | integrin activation | 19234463 |
| FERMT3 | GO:0033632 | regulation of cell-cell adhesion mediated by integrin | 19234463 |
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Exon skipping events across known transcript of Ensembl for FERMT3 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 FERMT3 |
| 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 FERMT3 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_60412 | 11 | 63986722:63986830:63986995:63987130:63987211:63987261 | 63986995:63987130 | ENSG00000149781.8 | ENST00000279227.5,ENST00000345728.5,ENST00000546255.1 |
| exon_skip_60416 | 11 | 63987691:63987798:63987907:63988141:63988487:63988612 | 63987907:63988141 | ENSG00000149781.8 | ENST00000279227.5,ENST00000345728.5 |
| exon_skip_60421 | 11 | 63987908:63988141:63988487:63988612:63990519:63990592 | 63988487:63988612 | ENSG00000149781.8 | ENST00000279227.5,ENST00000345728.5 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for FERMT3 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_60412 | 11 | 63986722:63986830:63986995:63987130:63987211:63987261 | 63986995:63987130 | ENSG00000149781.8 | ENST00000345728.5,ENST00000279227.5,ENST00000546255.1 |
| exon_skip_60416 | 11 | 63987691:63987798:63987907:63988141:63988487:63988612 | 63987907:63988141 | ENSG00000149781.8 | ENST00000345728.5,ENST00000279227.5 |
| exon_skip_60421 | 11 | 63987908:63988141:63988487:63988612:63990519:63990592 | 63988487:63988612 | ENSG00000149781.8 | ENST00000345728.5,ENST00000279227.5 |
| 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 FERMT3 |
| 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 |
| ENST00000279227 | 63988487 | 63988612 | Frame-shift |
| ENST00000279227 | 63986995 | 63987130 | In-frame |
| ENST00000279227 | 63987907 | 63988141 | 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 |
| ENST00000279227 | 63988487 | 63988612 | Frame-shift |
| ENST00000279227 | 63986995 | 63987130 | In-frame |
| ENST00000279227 | 63987907 | 63988141 | In-frame |
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Infer the effects of exon skipping event on protein functional features for FERMT3 |
| 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 |
| ENST00000279227 | 2506 | 667 | 63986995 | 63987130 | 990 | 1124 | 298 | 343 |
| ENST00000279227 | 2506 | 667 | 63987907 | 63988141 | 1419 | 1652 | 441 | 519 |
| 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 |
| ENST00000279227 | 2506 | 667 | 63986995 | 63987130 | 990 | 1124 | 298 | 343 |
| ENST00000279227 | 2506 | 667 | 63987907 | 63988141 | 1419 | 1652 | 441 | 519 |
| 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 |
| Q86UX7 | 298 | 343 | 1 | 667 | Chain | ID=PRO_0000219454;Note=Fermitin family homolog 3 |
| Q86UX7 | 298 | 343 | 229 | 558 | Domain | Note=FERM |
| Q86UX7 | 441 | 519 | 429 | 441 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2YS3 |
| Q86UX7 | 441 | 519 | 1 | 667 | Chain | ID=PRO_0000219454;Note=Fermitin family homolog 3 |
| Q86UX7 | 441 | 519 | 229 | 558 | Domain | Note=FERM |
| Q86UX7 | 441 | 519 | 354 | 457 | Domain | Note=PH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00145 |
| Q86UX7 | 441 | 519 | 442 | 456 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2YS3 |
| Q86UX7 | 441 | 519 | 465 | 480 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2YS3 |
| Q86UX7 | 441 | 519 | 504 | 504 | Modified residue | Note=Phosphotyrosine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19690332;Dbxref=PMID:19690332 |
| Q86UX7 | 441 | 519 | 472 | 472 | Sequence conflict | Note=A->P;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q86UX7 | 441 | 519 | 480 | 480 | Sequence conflict | Note=Q->R;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 |
| Q86UX7 | 298 | 343 | 1 | 667 | Chain | ID=PRO_0000219454;Note=Fermitin family homolog 3 |
| Q86UX7 | 298 | 343 | 229 | 558 | Domain | Note=FERM |
| Q86UX7 | 441 | 519 | 429 | 441 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2YS3 |
| Q86UX7 | 441 | 519 | 1 | 667 | Chain | ID=PRO_0000219454;Note=Fermitin family homolog 3 |
| Q86UX7 | 441 | 519 | 229 | 558 | Domain | Note=FERM |
| Q86UX7 | 441 | 519 | 354 | 457 | Domain | Note=PH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00145 |
| Q86UX7 | 441 | 519 | 442 | 456 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2YS3 |
| Q86UX7 | 441 | 519 | 465 | 480 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2YS3 |
| Q86UX7 | 441 | 519 | 504 | 504 | Modified residue | Note=Phosphotyrosine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19690332;Dbxref=PMID:19690332 |
| Q86UX7 | 441 | 519 | 472 | 472 | Sequence conflict | Note=A->P;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q86UX7 | 441 | 519 | 480 | 480 | Sequence conflict | Note=Q->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
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SNVs in the skipped exons for FERMT3 |
| - 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 |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_60416 | 63987908 | 63988141 | 63988107 | 63988107 | Frame_Shift_Del | C | - | p.A508fs |
| COAD | TCGA-AA-3663-01 | exon_skip_60416 | 63987908 | 63988141 | 63988106 | 63988107 | Frame_Shift_Ins | - | C | p.A508fs |
| KICH | TCGA-KN-8432-01 | exon_skip_60416 | 63987908 | 63988141 | 63988121 | 63988121 | Nonsense_Mutation | C | T | p.R513* |
| KICH | TCGA-KN-8432-01 | exon_skip_60416 | 63987908 | 63988141 | 63988121 | 63988121 | Nonsense_Mutation | C | T | p.R513X |
| - 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 |
| SF268_CENTRAL_NERVOUS_SYSTEM | 63987908 | 63988141 | 63987946 | 63987955 | Frame_Shift_Del | GGCCTCCAAA | - | p.LASK454fs |
| IM95_STOMACH | 63987908 | 63988141 | 63988106 | 63988107 | Frame_Shift_Ins | - | C | p.A508fs |
| TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 63986996 | 63987130 | 63987039 | 63987039 | Missense_Mutation | C | A | p.P313Q |
| JHOS4_OVARY | 63986996 | 63987130 | 63987050 | 63987050 | Missense_Mutation | G | A | p.D317N |
| LS411N_LARGE_INTESTINE | 63986996 | 63987130 | 63987095 | 63987095 | Missense_Mutation | G | A | p.V332M |
| 22RV1_PROSTATE | 63987908 | 63988141 | 63987923 | 63987923 | Missense_Mutation | C | T | p.R447C |
| PLCPRF5_LIVER | 63987908 | 63988141 | 63987960 | 63987960 | Missense_Mutation | G | T | p.R459L |
| SNU407_LARGE_INTESTINE | 63987908 | 63988141 | 63987987 | 63987987 | Missense_Mutation | G | A | p.S468N |
| P31FUJ_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 63987908 | 63988141 | 63987998 | 63987998 | Missense_Mutation | G | T | p.A472S |
| A375_SKIN | 63987908 | 63988141 | 63988092 | 63988092 | Missense_Mutation | C | T | p.P503L |
| MDAMB415_BREAST | 63988488 | 63988612 | 63988542 | 63988542 | Missense_Mutation | G | C | p.E538Q |
| ECC12_STOMACH | 63988488 | 63988612 | 63988605 | 63988605 | Missense_Mutation | A | G | p.M559V |
| SNU407_LARGE_INTESTINE | 63987908 | 63988141 | 63988121 | 63988121 | Nonsense_Mutation | C | T | p.R513* |
| SNU81_LARGE_INTESTINE | 63986996 | 63987130 | 63987129 | 63987129 | Splice_Site | T | G | p.L343R |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for FERMT3 |
| 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 FERMT3 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for FERMT3 |
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RelatedDrugs for FERMT3 |
| 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 FERMT3 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| FERMT3 | C0005818 | Blood Platelet Disorders | 1 | CTD_human |
| FERMT3 | C0019080 | Hemorrhage | 1 | CTD_human |
| FERMT3 | C0029454 | Osteopetrosis | 1 | CTD_human |
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