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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 FBLN1 |
 Gene summary |
| Gene information | Gene symbol | FBLN1 | Gene ID | 2192 |
| Gene name | fibulin 1 | |
| Synonyms | FBLN|FIBL1 | |
| Cytomap | 22q13.31 | |
| Type of gene | protein-coding | |
| Description | fibulin-1 | |
| Modification date | 20180522 | |
| UniProtAcc | P23142 | |
| Context | PubMed: FBLN1 [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 |
| FBLN1 | GO:0001933 | negative regulation of protein phosphorylation | 11792823 |
| FBLN1 | GO:0007162 | negative regulation of cell adhesion | 11792823 |
| FBLN1 | GO:0007229 | integrin-mediated signaling pathway | 11792823 |
| FBLN1 | GO:0070373 | negative regulation of ERK1 and ERK2 cascade | 11792823 |
| FBLN1 | GO:0072378 | blood coagulation, fibrin clot formation | 7642629 |
| FBLN1 | GO:1900025 | negative regulation of substrate adhesion-dependent cell spreading | 11792823 |
| FBLN1 | GO:2000146 | negative regulation of cell motility | 11792823 |
| FBLN1 | GO:2000647 | negative regulation of stem cell proliferation | 11238726 |
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Exon skipping events across known transcript of Ensembl for FBLN1 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 FBLN1 |
| 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 FBLN1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_366453 | 22 | 45914662:45914667:45918970:45919084:45921422:45921443 | 45918970:45919084 | ENSG00000077942.13 | ENST00000402984.3 |
| exon_skip_366454 | 22 | 45923726:45923889:45927144:45927204:45928942:45928975 | 45927144:45927204 | ENSG00000077942.13 | ENST00000348697.2,ENST00000340923.5,ENST00000327858.6,ENST00000437711.1,ENST00000442170.2,ENST00000262722.7,ENST00000402984.3 |
| exon_skip_366457 | 22 | 45927144:45927204:45928942:45929044:45929640:45929778 | 45928942:45929044 | ENSG00000077942.13 | ENST00000348697.2,ENST00000340923.5,ENST00000327858.6,ENST00000437711.1,ENST00000442170.2,ENST00000262722.7,ENST00000402984.3 |
| exon_skip_366463 | 22 | 45929660:45929778:45931079:45931217:45937108:45937159 | 45931079:45931217 | ENSG00000077942.13 | ENST00000348697.2,ENST00000340923.5,ENST00000327858.6,ENST00000442170.2,ENST00000262722.7,ENST00000402984.3 |
| exon_skip_366465 | 22 | 45929660:45929778:45931135:45931217:45937108:45937159 | 45931135:45931217 | ENSG00000077942.13 | ENST00000437711.1,ENST00000460538.1 |
| exon_skip_366467 | 22 | 45937108:45937252:45938034:45938163:45939280:45939406 | 45938034:45938163 | ENSG00000077942.13 | ENST00000348697.2,ENST00000340923.5,ENST00000476366.1,ENST00000327858.6,ENST00000442170.2,ENST00000262722.7,ENST00000402984.3 |
| exon_skip_366468 | 22 | 45938034:45938163:45939280:45939406:45942964:45943084 | 45939280:45939406 | ENSG00000077942.13 | ENST00000348697.2,ENST00000340923.5,ENST00000476366.1,ENST00000327858.6,ENST00000442170.2,ENST00000262722.7,ENST00000402984.3 |
| exon_skip_366471 | 22 | 45939280:45939406:45942964:45943084:45944492:45944507 | 45942964:45943084 | ENSG00000077942.13 | ENST00000348697.2,ENST00000340923.5,ENST00000327858.6,ENST00000442170.2,ENST00000262722.7,ENST00000402984.3 |
| exon_skip_366473 | 22 | 45939280:45939406:45942964:45943084:45946371:45946495 | 45942964:45943084 | ENSG00000077942.13 | ENST00000476366.1 |
| exon_skip_366478 | 22 | 45942964:45943084:45944492:45944624:45946371:45946495 | 45944492:45944624 | ENSG00000077942.13 | ENST00000348697.2,ENST00000340923.5,ENST00000327858.6,ENST00000442170.2,ENST00000262722.7,ENST00000402984.3 |
| exon_skip_366488 | 22 | 45946371:45946495:45970390:45970533:45972856:45972988 | 45970390:45970533 | ENSG00000077942.13 | ENST00000327858.6 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for FBLN1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_366453 | 22 | 45914662:45914667:45918970:45919084:45921422:45921443 | 45918970:45919084 | ENSG00000077942.13 | ENST00000402984.3 |
| exon_skip_366454 | 22 | 45923726:45923889:45927144:45927204:45928942:45928975 | 45927144:45927204 | ENSG00000077942.13 | ENST00000348697.2,ENST00000402984.3,ENST00000262722.7,ENST00000327858.6,ENST00000442170.2,ENST00000340923.5,ENST00000437711.1 |
| exon_skip_366457 | 22 | 45927144:45927204:45928942:45929044:45929640:45929778 | 45928942:45929044 | ENSG00000077942.13 | ENST00000348697.2,ENST00000402984.3,ENST00000262722.7,ENST00000327858.6,ENST00000442170.2,ENST00000340923.5,ENST00000437711.1 |
| exon_skip_366463 | 22 | 45929660:45929778:45931079:45931217:45937108:45937159 | 45931079:45931217 | ENSG00000077942.13 | ENST00000348697.2,ENST00000402984.3,ENST00000262722.7,ENST00000327858.6,ENST00000442170.2,ENST00000340923.5 |
| exon_skip_366465 | 22 | 45929660:45929778:45931135:45931217:45937108:45937159 | 45931135:45931217 | ENSG00000077942.13 | ENST00000437711.1,ENST00000460538.1 |
| exon_skip_366467 | 22 | 45937108:45937252:45938034:45938163:45939280:45939406 | 45938034:45938163 | ENSG00000077942.13 | ENST00000348697.2,ENST00000402984.3,ENST00000262722.7,ENST00000327858.6,ENST00000442170.2,ENST00000340923.5,ENST00000476366.1 |
| exon_skip_366468 | 22 | 45938034:45938163:45939280:45939406:45942964:45943084 | 45939280:45939406 | ENSG00000077942.13 | ENST00000348697.2,ENST00000402984.3,ENST00000262722.7,ENST00000327858.6,ENST00000442170.2,ENST00000340923.5,ENST00000476366.1 |
| exon_skip_366471 | 22 | 45939280:45939406:45942964:45943084:45944492:45944507 | 45942964:45943084 | ENSG00000077942.13 | ENST00000348697.2,ENST00000402984.3,ENST00000262722.7,ENST00000327858.6,ENST00000442170.2,ENST00000340923.5 |
| exon_skip_366473 | 22 | 45939280:45939406:45942964:45943084:45946371:45946495 | 45942964:45943084 | ENSG00000077942.13 | ENST00000476366.1 |
| exon_skip_366478 | 22 | 45942964:45943084:45944492:45944624:45946371:45946495 | 45944492:45944624 | ENSG00000077942.13 | ENST00000348697.2,ENST00000402984.3,ENST00000262722.7,ENST00000327858.6,ENST00000442170.2,ENST00000340923.5 |
| exon_skip_366488 | 22 | 45946371:45946495:45970390:45970533:45972856:45972988 | 45970390:45970533 | ENSG00000077942.13 | ENST00000327858.6 |
| 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 FBLN1 |
| 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 |
| ENST00000327858 | 45970390 | 45970533 | Frame-shift |
| ENST00000327858 | 45927144 | 45927204 | In-frame |
| ENST00000327858 | 45928942 | 45929044 | In-frame |
| ENST00000327858 | 45931079 | 45931217 | In-frame |
| ENST00000327858 | 45938034 | 45938163 | In-frame |
| ENST00000327858 | 45939280 | 45939406 | In-frame |
| ENST00000327858 | 45942964 | 45943084 | In-frame |
| ENST00000327858 | 45944492 | 45944624 | 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 |
| ENST00000327858 | 45970390 | 45970533 | Frame-shift |
| ENST00000327858 | 45927144 | 45927204 | In-frame |
| ENST00000327858 | 45928942 | 45929044 | In-frame |
| ENST00000327858 | 45931079 | 45931217 | In-frame |
| ENST00000327858 | 45938034 | 45938163 | In-frame |
| ENST00000327858 | 45939280 | 45939406 | In-frame |
| ENST00000327858 | 45942964 | 45943084 | In-frame |
| ENST00000327858 | 45944492 | 45944624 | In-frame |
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Infer the effects of exon skipping event on protein functional features for FBLN1 |
| 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 |
| ENST00000327858 | 2913 | 703 | 45927144 | 45927204 | 580 | 639 | 161 | 181 |
| ENST00000327858 | 2913 | 703 | 45928942 | 45929044 | 640 | 741 | 181 | 215 |
| ENST00000327858 | 2913 | 703 | 45931079 | 45931217 | 880 | 1017 | 261 | 307 |
| ENST00000327858 | 2913 | 703 | 45938034 | 45938163 | 1162 | 1290 | 355 | 398 |
| ENST00000327858 | 2913 | 703 | 45939280 | 45939406 | 1291 | 1416 | 398 | 440 |
| ENST00000327858 | 2913 | 703 | 45942964 | 45943084 | 1417 | 1536 | 440 | 480 |
| ENST00000327858 | 2913 | 703 | 45944492 | 45944624 | 1537 | 1668 | 480 | 524 |
| 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 |
| ENST00000327858 | 2913 | 703 | 45927144 | 45927204 | 580 | 639 | 161 | 181 |
| ENST00000327858 | 2913 | 703 | 45928942 | 45929044 | 640 | 741 | 181 | 215 |
| ENST00000327858 | 2913 | 703 | 45931079 | 45931217 | 880 | 1017 | 261 | 307 |
| ENST00000327858 | 2913 | 703 | 45938034 | 45938163 | 1162 | 1290 | 355 | 398 |
| ENST00000327858 | 2913 | 703 | 45939280 | 45939406 | 1291 | 1416 | 398 | 440 |
| ENST00000327858 | 2913 | 703 | 45942964 | 45943084 | 1417 | 1536 | 440 | 480 |
| ENST00000327858 | 2913 | 703 | 45944492 | 45944624 | 1537 | 1668 | 480 | 524 |
| 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 FBLN1 |
| - 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_366478 | 45944493 | 45944624 | 45944578 | 45944578 | Frame_Shift_Del | C | - | p.C509fs |
| GBM | TCGA-12-5301-01 | exon_skip_366478 | 45944493 | 45944624 | 45944523 | 45944524 | Frame_Shift_Ins | - | CCAC | p.G529fs |
| KIRC | TCGA-B0-5096-01 | exon_skip_366478 | 45944493 | 45944624 | 45944598 | 45944599 | Frame_Shift_Ins | - | G | p.R516fs |
| LIHC | TCGA-FV-A2QR-01 | exon_skip_366478 | 45944493 | 45944624 | 45944598 | 45944599 | Frame_Shift_Ins | - | G | p.R516fs |
| LUAD | TCGA-05-4382-01 | exon_skip_366471 exon_skip_366473 | 45942965 | 45943084 | 45943050 | 45943050 | Nonsense_Mutation | C | A | p.Y469* |
| LUAD | TCGA-05-4397-01 | exon_skip_366478 | 45944493 | 45944624 | 45944567 | 45944567 | Nonsense_Mutation | C | T | p.Q506* |
| SKCM | TCGA-BF-A5EQ-01 | exon_skip_366463 | 45931080 | 45931217 | 45931079 | 45931079 | Splice_Site | G | T | . |
| - 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 |
| MN60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 45944493 | 45944624 | 45944601 | 45944601 | Frame_Shift_Del | C | - | p.A517fs |
| RERFGC1B_STOMACH | 45927145 | 45927204 | 45927177 | 45927177 | Missense_Mutation | G | A | p.D173N |
| MDAPCA2B_PROSTATE | 45927145 | 45927204 | 45927196 | 45927196 | Missense_Mutation | G | A | p.R179H |
| SNU1066_UPPER_AERODIGESTIVE_TRACT | 45927145 | 45927204 | 45927202 | 45927202 | Missense_Mutation | G | A | p.R181Q |
| HEC108_ENDOMETRIUM | 45928943 | 45929044 | 45928948 | 45928948 | Missense_Mutation | G | A | p.G184R |
| LB647SCLC_LUNG | 45928943 | 45929044 | 45928997 | 45928997 | Missense_Mutation | C | T | p.S200F |
| OPM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 45928943 | 45929044 | 45929017 | 45929017 | Missense_Mutation | C | A | p.L207M |
| KMOE2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 45928943 | 45929044 | 45929029 | 45929029 | Missense_Mutation | G | A | p.G211S |
| SAOS2_BONE | 45931080 | 45931217 | 45931082 | 45931082 | Missense_Mutation | A | G | p.I263V |
| OAW42_OVARY | 45931080 | 45931217 | 45931098 | 45931098 | Missense_Mutation | G | A | p.S268N |
| FARAGE_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 45931080 | 45931217 | 45931119 | 45931119 | Missense_Mutation | C | T | p.P275L |
| IGR1_SKIN | 45931136 | 45931217 | 45931135 | 45931135 | Missense_Mutation | G | C | p.Q280H |
| IGR1_SKIN | 45931080 | 45931217 | 45931135 | 45931135 | Missense_Mutation | G | C | p.Q280H |
| RERFLCMS_LUNG | 45931136 | 45931217 | 45931154 | 45931154 | Missense_Mutation | C | T | p.R287C |
| RERFLCMS_LUNG | 45931080 | 45931217 | 45931154 | 45931154 | Missense_Mutation | C | T | p.R287C |
| NCIH2110_LUNG | 45939281 | 45939406 | 45939298 | 45939298 | Missense_Mutation | C | T | p.R405C |
| HKA1_SKIN | 45939281 | 45939406 | 45939331 | 45939331 | Missense_Mutation | G | A | p.E416K |
| HS852T_SKIN | 45939281 | 45939406 | 45939331 | 45939331 | Missense_Mutation | G | A | p.E416K |
| HCT15_LARGE_INTESTINE | 45939281 | 45939406 | 45939376 | 45939376 | Missense_Mutation | C | T | p.R431W |
| NCIH358_LUNG | 45942965 | 45943084 | 45942973 | 45942973 | Missense_Mutation | G | A | p.E444K |
| HCC2998_LARGE_INTESTINE | 45942965 | 45943084 | 45942980 | 45942980 | Missense_Mutation | G | T | p.S446I |
| IGROV1_OVARY | 45944493 | 45944624 | 45944613 | 45944613 | Missense_Mutation | G | A | p.R521H |
| KMH2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 45970391 | 45970533 | 45970420 | 45970420 | Missense_Mutation | G | A | p.R576H |
| EFO27_OVARY | 45931136 | 45931217 | 45931160 | 45931160 | Nonsense_Mutation | C | T | p.R289* |
| EFO27_OVARY | 45931080 | 45931217 | 45931160 | 45931160 | Nonsense_Mutation | C | T | p.R289* |
| PL21_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 45927145 | 45927204 | 45927204 | 45927204 | Splice_Site | G | T | p.G182* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for FBLN1 |
| 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 FBLN1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for FBLN1 |
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RelatedDrugs for FBLN1 |
| 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 FBLN1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| FBLN1 | C0014175 | Endometriosis | 1 | CTD_human |
| FBLN1 | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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