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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 FERMT1 |
 Gene summary |
| Gene information | Gene symbol | FERMT1 | Gene ID | 55612 |
| Gene name | fermitin family member 1 | |
| Synonyms | C20orf42|DTGCU2|KIND1|UNC112A|URP1 | |
| Cytomap | 20p12.3 | |
| Type of gene | protein-coding | |
| Description | fermitin family homolog 1UNC112 related protein 1kindlerinkindlin 1kindlin syndrome proteinunc-112-related protein 1 | |
| Modification date | 20180519 | |
| UniProtAcc | Q9BQL6 | |
| Context | PubMed: FERMT1 [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 |
| FERMT1 | GO:0007155 | cell adhesion | 17012746 |
| FERMT1 | GO:0043616 | keratinocyte proliferation | 17012746 |
| FERMT1 | GO:0051546 | keratinocyte migration | 17012746 |
| FERMT1 | GO:0090162 | establishment of epithelial cell polarity | 17012746 |
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Exon skipping events across known transcript of Ensembl for FERMT1 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 FERMT1 |
| 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 FERMT1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_354804 | 20 | 6056668:6057993:6060082:6060224:6064686:6064811 | 6060082:6060224 | ENSG00000101311.11 | ENST00000217289.4,ENST00000478194.1,ENST00000536936.1 |
| exon_skip_354806 | 20 | 6060082:6060224:6064686:6064811:6065712:6065934 | 6064686:6064811 | ENSG00000101311.11 | ENST00000217289.4,ENST00000478194.1,ENST00000536936.1 |
| exon_skip_354807 | 20 | 6064686:6064811:6065712:6065934:6068423:6068530 | 6065712:6065934 | ENSG00000101311.11 | ENST00000217289.4,ENST00000478194.1,ENST00000536936.1 |
| exon_skip_354809 | 20 | 6068455:6068530:6069611:6069736:6075585:6075632 | 6069611:6069736 | ENSG00000101311.11 | ENST00000217289.4,ENST00000536936.1 |
| exon_skip_354812 | 20 | 6078170:6078278:6088178:6088281:6090944:6091158 | 6088178:6088281 | ENSG00000101311.11 | ENST00000217289.4 |
| exon_skip_354813 | 20 | 6078170:6078278:6088178:6088281:6093123:6093270 | 6088178:6088281 | ENSG00000101311.11 | ENST00000536936.1 |
| exon_skip_354816 | 20 | 6088178:6088281:6090944:6091158:6093123:6093270 | 6090944:6091158 | ENSG00000101311.11 | ENST00000217289.4 |
| exon_skip_354818 | 20 | 6096457:6096691:6100050:6100219:6103420:6103677 | 6100050:6100219 | ENSG00000101311.11 | ENST00000217289.4 |
| exon_skip_354820 | 20 | 6096457:6096691:6100067:6100219:6103420:6103677 | 6100067:6100219 | ENSG00000101311.11 | ENST00000536936.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for FERMT1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_354804 | 20 | 6056668:6057993:6060082:6060224:6064686:6064811 | 6060082:6060224 | ENSG00000101311.11 | ENST00000478194.1,ENST00000217289.4,ENST00000536936.1 |
| exon_skip_354806 | 20 | 6060082:6060224:6064686:6064811:6065712:6065934 | 6064686:6064811 | ENSG00000101311.11 | ENST00000478194.1,ENST00000217289.4,ENST00000536936.1 |
| exon_skip_354807 | 20 | 6064686:6064811:6065712:6065934:6068423:6068530 | 6065712:6065934 | ENSG00000101311.11 | ENST00000478194.1,ENST00000217289.4,ENST00000536936.1 |
| exon_skip_354809 | 20 | 6068455:6068530:6069611:6069736:6075585:6075632 | 6069611:6069736 | ENSG00000101311.11 | ENST00000217289.4,ENST00000536936.1 |
| exon_skip_354812 | 20 | 6078170:6078278:6088178:6088281:6090944:6091158 | 6088178:6088281 | ENSG00000101311.11 | ENST00000217289.4 |
| exon_skip_354813 | 20 | 6078170:6078278:6088178:6088281:6093123:6093270 | 6088178:6088281 | ENSG00000101311.11 | ENST00000536936.1 |
| exon_skip_354816 | 20 | 6088178:6088281:6090944:6091158:6093123:6093270 | 6090944:6091158 | ENSG00000101311.11 | ENST00000217289.4 |
| 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 FERMT1 |
| 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 |
| ENST00000217289 | 6100050 | 6100219 | 3UTR-3CDS |
| ENST00000217289 | 6060082 | 6060224 | Frame-shift |
| ENST00000217289 | 6064686 | 6064811 | Frame-shift |
| ENST00000217289 | 6069611 | 6069736 | Frame-shift |
| ENST00000217289 | 6088178 | 6088281 | Frame-shift |
| ENST00000217289 | 6090944 | 6091158 | Frame-shift |
| ENST00000217289 | 6065712 | 6065934 | 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 |
| ENST00000217289 | 6060082 | 6060224 | Frame-shift |
| ENST00000217289 | 6064686 | 6064811 | Frame-shift |
| ENST00000217289 | 6069611 | 6069736 | Frame-shift |
| ENST00000217289 | 6088178 | 6088281 | Frame-shift |
| ENST00000217289 | 6090944 | 6091158 | Frame-shift |
| ENST00000217289 | 6065712 | 6065934 | In-frame |
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Infer the effects of exon skipping event on protein functional features for FERMT1 |
| 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 |
| ENST00000217289 | 5168 | 677 | 6065712 | 6065934 | 2161 | 2382 | 457 | 531 |
| 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 |
| ENST00000217289 | 5168 | 677 | 6065712 | 6065934 | 2161 | 2382 | 457 | 531 |
| 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 |
| Q9BQL6 | 457 | 531 | 458 | 495 | Alternative sequence | ID=VSP_009224;Note=In isoform 4. ENQYAQWMAACMLASKGKTMADSSYQPEVLNILSFLRM->VSKTPKILSHFTSTKPKSKTQKCFHKFRALLCHSAIAL;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q9BQL6 | 457 | 531 | 496 | 677 | Alternative sequence | ID=VSP_009225;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q9BQL6 | 457 | 531 | 1 | 677 | Chain | ID=PRO_0000219452;Note=Fermitin family homolog 1 |
| Q9BQL6 | 457 | 531 | 96 | 653 | Domain | Note=FERM |
| Q9BQL6 | 457 | 531 | 377 | 473 | Domain | Note=PH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00145 |
| Q9BQL6 | 457 | 531 | 526 | 526 | Natural variant | ID=VAR_014398;Note=R->K;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12697302,ECO:0000269|PubMed:14702039;Dbxref=dbSNP:rs2232074,PMID:12697302,PMID:14702039 |
| 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 |
| Q9BQL6 | 457 | 531 | 458 | 495 | Alternative sequence | ID=VSP_009224;Note=In isoform 4. ENQYAQWMAACMLASKGKTMADSSYQPEVLNILSFLRM->VSKTPKILSHFTSTKPKSKTQKCFHKFRALLCHSAIAL;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q9BQL6 | 457 | 531 | 496 | 677 | Alternative sequence | ID=VSP_009225;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q9BQL6 | 457 | 531 | 1 | 677 | Chain | ID=PRO_0000219452;Note=Fermitin family homolog 1 |
| Q9BQL6 | 457 | 531 | 96 | 653 | Domain | Note=FERM |
| Q9BQL6 | 457 | 531 | 377 | 473 | Domain | Note=PH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00145 |
| Q9BQL6 | 457 | 531 | 526 | 526 | Natural variant | ID=VAR_014398;Note=R->K;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12697302,ECO:0000269|PubMed:14702039;Dbxref=dbSNP:rs2232074,PMID:12697302,PMID:14702039 |
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SNVs in the skipped exons for FERMT1 |
| - 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-DD-A1EG-01 | exon_skip_354804 | 6060083 | 6060224 | 6060206 | 6060206 | Frame_Shift_Del | T | - | p.K579fs |
| UCEC | TCGA-B5-A0JV-01 | exon_skip_354804 | 6060083 | 6060224 | 6060206 | 6060206 | Frame_Shift_Del | T | - | p.K579fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_354807 | 6065713 | 6065934 | 6065729 | 6065729 | Frame_Shift_Del | C | - | p.R526fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_354807 | 6065713 | 6065934 | 6065885 | 6065885 | Frame_Shift_Del | C | - | p.G474fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_354809 | 6069612 | 6069736 | 6069659 | 6069659 | Frame_Shift_Del | T | - | p.N406fs |
| UCEC | TCGA-A5-A0GB-01 | exon_skip_354809 | 6069612 | 6069736 | 6069715 | 6069715 | Frame_Shift_Del | T | - | p.K387fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_354812 exon_skip_354813 | 6088179 | 6088281 | 6088183 | 6088183 | Frame_Shift_Del | G | - | p.P282fs |
| COAD | TCGA-A6-2683-01 | exon_skip_354812 exon_skip_354813 | 6088179 | 6088281 | 6088233 | 6088233 | Frame_Shift_Del | A | - | p.D265fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_354816 | 6090945 | 6091158 | 6091015 | 6091015 | Frame_Shift_Del | G | - | p.Q226fs |
| STAD | TCGA-BR-8078-01 | exon_skip_354816 | 6090945 | 6091158 | 6091015 | 6091015 | Frame_Shift_Del | G | - | p.Q226fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_354816 | 6090945 | 6091158 | 6091125 | 6091125 | Frame_Shift_Del | G | - | p.P189fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_354820 exon_skip_354818 | 6100051 | 6100219 | 6100139 | 6100139 | Frame_Shift_Del | G | - | p.P21fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_354820 exon_skip_354818 | 6100068 | 6100219 | 6100139 | 6100139 | Frame_Shift_Del | G | - | p.P21fs |
| UCEC | TCGA-B5-A11O-01 | exon_skip_354804 | 6060083 | 6060224 | 6060205 | 6060206 | Frame_Shift_Ins | - | T | p.K579fs |
| KICH | TCGA-KO-8408-01 | exon_skip_354816 | 6090945 | 6091158 | 6091014 | 6091015 | Frame_Shift_Ins | - | G | p.Q226fs |
| LUAD | TCGA-44-2659-01 | exon_skip_354816 | 6090945 | 6091158 | 6091014 | 6091015 | Frame_Shift_Ins | - | G | p.V226fs |
| UCEC | TCGA-B5-A0K2-01 | exon_skip_354816 | 6090945 | 6091158 | 6091014 | 6091015 | Frame_Shift_Ins | - | G | p.Q226fs |
| PAAD | TCGA-IB-7651-01 | exon_skip_354816 | 6090945 | 6091158 | 6091159 | 6091159 | Splice_Site | C | A | . |
| ESCA | TCGA-XP-A8T6-01 | exon_skip_354816 | 6090945 | 6091158 | 6091160 | 6091160 | Splice_Site | T | A | e4-2 |
| - 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 |
| WSUNHL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 6069612 | 6069736 | 6069625 | 6069625 | Frame_Shift_Del | T | - | p.K417fs |
| A101D_SKIN | 6060083 | 6060224 | 6060205 | 6060206 | Frame_Shift_Ins | - | T | p.D580fs |
| A172_CENTRAL_NERVOUS_SYSTEM | 6060083 | 6060224 | 6060205 | 6060206 | Frame_Shift_Ins | - | T | p.D580fs |
| ECC10_STOMACH | 6060083 | 6060224 | 6060205 | 6060206 | Frame_Shift_Ins | - | T | p.D580fs |
| SKLU1_LUNG | 6060083 | 6060224 | 6060205 | 6060206 | Frame_Shift_Ins | - | T | p.D580fs |
| DOK_UPPER_AERODIGESTIVE_TRACT | 6090945 | 6091158 | 6091148 | 6091150 | In_Frame_Del | ACC | - | p.G181del |
| SNU520_STOMACH | 6060083 | 6060224 | 6060102 | 6060102 | Missense_Mutation | A | G | p.V614A |
| NCIH2066_LUNG | 6060083 | 6060224 | 6060133 | 6060133 | Missense_Mutation | A | G | p.W604R |
| SCS214_SOFT_TISSUE | 6060083 | 6060224 | 6060176 | 6060176 | Missense_Mutation | C | A | p.R589S |
| SLR21_KIDNEY | 6064687 | 6064811 | 6064738 | 6064738 | Missense_Mutation | A | G | p.I556T |
| SLR23_KIDNEY | 6064687 | 6064811 | 6064738 | 6064738 | Missense_Mutation | A | G | p.I556T |
| SNU1040_LARGE_INTESTINE | 6064687 | 6064811 | 6064745 | 6064745 | Missense_Mutation | G | A | p.R554W |
| LN428_CENTRAL_NERVOUS_SYSTEM | 6064687 | 6064811 | 6064789 | 6064789 | Missense_Mutation | G | A | p.A539V |
| GT3TKB_STOMACH | 6064687 | 6064811 | 6064801 | 6064801 | Missense_Mutation | C | T | p.R535Q |
| NCCIT_TESTIS | 6064687 | 6064811 | 6064801 | 6064801 | Missense_Mutation | C | T | p.R535Q |
| RERFLCAI_LUNG | 6064687 | 6064811 | 6064801 | 6064801 | Missense_Mutation | C | T | p.R535Q |
| A704_KIDNEY | 6065713 | 6065934 | 6065742 | 6065742 | Missense_Mutation | G | A | p.R522W |
| HEC251_ENDOMETRIUM | 6065713 | 6065934 | 6065891 | 6065891 | Missense_Mutation | G | A | p.S472L |
| KM12_LARGE_INTESTINE | 6065713 | 6065934 | 6065906 | 6065906 | Missense_Mutation | G | A | p.A467V |
| DMS454_LUNG | 6065713 | 6065934 | 6065924 | 6065924 | Missense_Mutation | T | C | p.Y461C |
| SNU1040_LARGE_INTESTINE | 6069612 | 6069736 | 6069699 | 6069699 | Missense_Mutation | A | G | p.W393R |
| ACN_AUTONOMIC_GANGLIA | 6069612 | 6069736 | 6069713 | 6069713 | Missense_Mutation | G | T | p.A388D |
| NCIH2342_LUNG | 6069612 | 6069736 | 6069719 | 6069719 | Missense_Mutation | G | A | p.P386L |
| HEC251_ENDOMETRIUM | 6069612 | 6069736 | 6069730 | 6069730 | Missense_Mutation | C | A | p.K382N |
| SNU81_LARGE_INTESTINE | 6069612 | 6069736 | 6069730 | 6069730 | Missense_Mutation | C | A | p.K382N |
| RH18_SOFT_TISSUE | 6088179 | 6088281 | 6088274 | 6088274 | Missense_Mutation | C | A | p.D252Y |
| KURAMOCHI_OVARY | 6090945 | 6091158 | 6090955 | 6090955 | Missense_Mutation | G | T | p.L246I |
| NCIH1299_LUNG | 6090945 | 6091158 | 6091003 | 6091003 | Missense_Mutation | C | T | p.A230T |
| SKNMC_BONE | 6090945 | 6091158 | 6091022 | 6091022 | Missense_Mutation | T | A | p.Q223H |
| MCIXC_AUTONOMIC_GANGLIA | 6090945 | 6091158 | 6091022 | 6091022 | Missense_Mutation | T | A | p.Q223H |
| SNU1040_LARGE_INTESTINE | 6090945 | 6091158 | 6091029 | 6091029 | Missense_Mutation | A | G | p.F221S |
| WSUNHL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 6090945 | 6091158 | 6091084 | 6091084 | Missense_Mutation | T | C | p.M203V |
| NCIH2342_LUNG | 6100068 | 6100219 | 6100129 | 6100129 | Missense_Mutation | G | T | p.Q25K |
| NCIH2342_LUNG | 6100051 | 6100219 | 6100129 | 6100129 | Missense_Mutation | G | T | p.Q25K |
| HEC59_ENDOMETRIUM | 6100068 | 6100219 | 6100162 | 6100162 | Missense_Mutation | G | A | p.L14F |
| HEC59_ENDOMETRIUM | 6100051 | 6100219 | 6100162 | 6100162 | Missense_Mutation | G | A | p.L14F |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for FERMT1 |
| 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 |
| exon_skip_354812 | 20 | 6078170:6078278:6088178:6088281:6090944:6091158 | 6088178:6088281 | ENST00000217289.4 | LGG | rs62200482 | chr20:6088265 | G/A | 1.72e-03 |
| exon_skip_354820 | 20 | 6096457:6096691:6100067:6100219:6103420:6103677 | 6100067:6100219 | ENST00000536936.1 | ESCA | rs10373 | chr20:6100088 | C/T | 6.13e-04 |
| exon_skip_354820 | 20 | 6096457:6096691:6100067:6100219:6103420:6103677 | 6100067:6100219 | ENST00000536936.1 | STAD | rs10373 | chr20:6100088 | C/T | 1.20e-04 |
| exon_skip_354807 | 20 | 6064686:6064811:6065712:6065934:6068423:6068530 | 6065712:6065934 | ENST00000217289.4,ENST00000478194.1,ENST00000536936.1 | LGG | rs2232074 | chr20:6065729 | C/T | 2.83e-03 |
| exon_skip_354807 | 20 | 6064686:6064811:6065712:6065934:6068423:6068530 | 6065712:6065934 | ENST00000217289.4,ENST00000478194.1,ENST00000536936.1 | LGG | rs2232073 | chr20:6065731 | T/C | 2.83e-03 |
| exon_skip_354806 | 20 | 6060082:6060224:6064686:6064811:6065712:6065934 | 6064686:6064811 | ENST00000217289.4,ENST00000478194.1,ENST00000536936.1 | LGG | rs2232079 | chr20:6064731 | C/T | 2.52e-03 |
| exon_skip_354813 | 20 | 6078170:6078278:6088178:6088281:6093123:6093270 | 6088178:6088281 | ENST00000536936.1 | LGG | rs62200482 | chr20:6088265 | G/A | 1.72e-03 |
| exon_skip_354818 | 20 | 6096457:6096691:6100050:6100219:6103420:6103677 | 6100050:6100219 | ENST00000217289.4 | ESCA | rs10373 | chr20:6100088 | C/T | 6.13e-04 |
| exon_skip_354818 | 20 | 6096457:6096691:6100050:6100219:6103420:6103677 | 6100050:6100219 | ENST00000217289.4 | STAD | rs10373 | chr20:6100088 | C/T | 1.20e-04 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for FERMT1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for FERMT1 |
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RelatedDrugs for FERMT1 |
| 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 FERMT1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| FERMT1 | C0406557 | Poikiloderma of Kindler | 1 | CTD_human;ORPHANET;UNIPROT |
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