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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 ECM1 |
 Gene summary |
| Gene information | Gene symbol | ECM1 | Gene ID | 1893 |
| Gene name | extracellular matrix protein 1 | |
| Synonyms | URBWD | |
| Cytomap | 1q21.2 | |
| Type of gene | protein-coding | |
| Description | extracellular matrix protein 1secretory component p85testicular tissue protein Li 61 | |
| Modification date | 20180522 | |
| UniProtAcc | Q16610 | |
| Context | PubMed: ECM1 [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 |
| ECM1 | GO:0001938 | positive regulation of endothelial cell proliferation | 11292659 |
| ECM1 | GO:0010466 | negative regulation of peptidase activity | 16512877 |
| ECM1 | GO:0030502 | negative regulation of bone mineralization | 11165938 |
| ECM1 | GO:0045766 | positive regulation of angiogenesis | 11292659 |
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Exon skipping events across known transcript of Ensembl for ECM1 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 ECM1 |
| 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 ECM1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_9822 | 1 | 150482006:150482057:150482136:150482232:150482310:150482478 | 150482136:150482232 | ENSG00000143369.10 | ENST00000369049.4 |
| exon_skip_9824 | 1 | 150482006:150482057:150482136:150482238:150482397:150482478 | 150482136:150482238 | ENSG00000143369.10 | ENST00000346569.6,ENST00000369047.4 |
| exon_skip_9828 | 1 | 150482006:150482057:150482136:150482478:150482577:150482628 | 150482136:150482478 | ENSG00000143369.10 | ENST00000496744.1,ENST00000498579.1,ENST00000490346.1 |
| exon_skip_9839 | 1 | 150482136:150482238:150482397:150482478:150482577:150482628 | 150482397:150482478 | ENSG00000143369.10 | ENST00000346569.6,ENST00000369047.4 |
| exon_skip_9850 | 1 | 150483351:150483674:150483932:150484307:150484827:150485048 | 150483932:150484307 | ENSG00000143369.10 | ENST00000369049.4,ENST00000369047.4 |
| exon_skip_9855 | 1 | 150484827:150485048:150485200:150485288:150485712:150486029 | 150485200:150485288 | ENSG00000143369.10 | ENST00000346569.6,ENST00000470432.1,ENST00000369049.4,ENST00000369047.4 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for ECM1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_9822 | 1 | 150482006:150482057:150482136:150482232:150482310:150482478 | 150482136:150482232 | ENSG00000143369.10 | ENST00000369049.4 |
| exon_skip_9824 | 1 | 150482006:150482057:150482136:150482238:150482397:150482478 | 150482136:150482238 | ENSG00000143369.10 | ENST00000369047.4,ENST00000346569.6 |
| exon_skip_9828 | 1 | 150482006:150482057:150482136:150482478:150482577:150482628 | 150482136:150482478 | ENSG00000143369.10 | ENST00000498579.1,ENST00000496744.1,ENST00000490346.1 |
| exon_skip_9839 | 1 | 150482136:150482238:150482397:150482478:150482577:150482628 | 150482397:150482478 | ENSG00000143369.10 | ENST00000369047.4,ENST00000346569.6 |
| exon_skip_9850 | 1 | 150483351:150483674:150483932:150484307:150484827:150485048 | 150483932:150484307 | ENSG00000143369.10 | ENST00000369049.4,ENST00000369047.4 |
| exon_skip_9855 | 1 | 150484827:150485048:150485200:150485288:150485712:150486029 | 150485200:150485288 | ENSG00000143369.10 | ENST00000470432.1,ENST00000369049.4,ENST00000369047.4,ENST00000346569.6 |
| 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 ECM1 |
| 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 |
| ENST00000369047 | 150485200 | 150485288 | Frame-shift |
| ENST00000369047 | 150482136 | 150482238 | In-frame |
| ENST00000369047 | 150482397 | 150482478 | In-frame |
| ENST00000369047 | 150483932 | 150484307 | 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 |
| ENST00000369047 | 150485200 | 150485288 | Frame-shift |
| ENST00000369047 | 150482136 | 150482238 | In-frame |
| ENST00000369047 | 150482397 | 150482478 | In-frame |
| ENST00000369047 | 150483932 | 150484307 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ECM1 |
| 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 |
| ENST00000369047 | 2087 | 540 | 150482136 | 150482238 | 247 | 348 | 40 | 74 |
| ENST00000369047 | 2087 | 540 | 150482397 | 150482478 | 349 | 429 | 74 | 101 |
| ENST00000369047 | 2087 | 540 | 150483932 | 150484307 | 834 | 1208 | 236 | 361 |
| 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 |
| ENST00000369047 | 2087 | 540 | 150482136 | 150482238 | 247 | 348 | 40 | 74 |
| ENST00000369047 | 2087 | 540 | 150482397 | 150482478 | 349 | 429 | 74 | 101 |
| ENST00000369047 | 2087 | 540 | 150483932 | 150484307 | 834 | 1208 | 236 | 361 |
| 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 ECM1 |
| - 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. |
ECM1_LIHC_exon_skip_9828_psi_boxplot.png |
ECM1_STAD_exon_skip_9828_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-G3-A3CJ-01 | exon_skip_9828 | 150482137 | 150482478 | 150482385 | 150482385 | Frame_Shift_Del | C | - | p.P99fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_9828 | 150482137 | 150482478 | 150482403 | 150482403 | Frame_Shift_Del | C | - | p.P79fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_9839 | 150482398 | 150482478 | 150482403 | 150482403 | Frame_Shift_Del | C | - | p.P79fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_9828 | 150482137 | 150482478 | 150482425 | 150482425 | Frame_Shift_Del | C | - | p.T84fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_9839 | 150482398 | 150482478 | 150482425 | 150482425 | Frame_Shift_Del | C | - | p.T84fs |
| STAD | TCGA-BR-8361-01 | exon_skip_9850 | 150483933 | 150484307 | 150484010 | 150484010 | Frame_Shift_Del | G | - | p.Q262fs |
| STAD | TCGA-BR-8361-01 | exon_skip_9850 | 150483933 | 150484307 | 150484010 | 150484010 | Frame_Shift_Del | G | - | p.Q289fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_9850 | 150483933 | 150484307 | 150484069 | 150484069 | Frame_Shift_Del | G | - | p.R282fs |
| UCEC | TCGA-A5-A0GB-01 | exon_skip_9822 | 150482137 | 150482232 | 150482150 | 150482151 | Frame_Shift_Ins | - | C | p.A45fs |
| UCEC | TCGA-A5-A0GB-01 | exon_skip_9824 | 150482137 | 150482238 | 150482150 | 150482151 | Frame_Shift_Ins | - | C | p.A45fs |
| UCEC | TCGA-A5-A0GB-01 | exon_skip_9828 | 150482137 | 150482478 | 150482150 | 150482151 | Frame_Shift_Ins | - | C | p.A45fs |
| UCEC | TCGA-BG-A0M0-01 | exon_skip_9822 | 150482137 | 150482232 | 150482150 | 150482151 | Frame_Shift_Ins | - | C | p.A45fs |
| UCEC | TCGA-BG-A0M0-01 | exon_skip_9824 | 150482137 | 150482238 | 150482150 | 150482151 | Frame_Shift_Ins | - | C | p.A45fs |
| UCEC | TCGA-BG-A0M0-01 | exon_skip_9828 | 150482137 | 150482478 | 150482150 | 150482151 | Frame_Shift_Ins | - | C | p.A45fs |
| LIHC | TCGA-BC-A112-01 | exon_skip_9822 | 150482137 | 150482232 | 150482157 | 150482158 | Frame_Shift_Ins | - | C | p.P48fs |
| LIHC | TCGA-BC-A112-01 | exon_skip_9824 | 150482137 | 150482238 | 150482157 | 150482158 | Frame_Shift_Ins | - | C | p.P48fs |
| LIHC | TCGA-BC-A112-01 | exon_skip_9828 | 150482137 | 150482478 | 150482157 | 150482158 | Frame_Shift_Ins | - | C | p.P48fs |
| STAD | TCGA-F1-6177-01 | exon_skip_9822 | 150482137 | 150482232 | 150482172 | 150482172 | Nonsense_Mutation | C | T | p.R53* |
| STAD | TCGA-F1-6177-01 | exon_skip_9822 | 150482137 | 150482232 | 150482172 | 150482172 | Nonsense_Mutation | C | T | p.R53X |
| STAD | TCGA-F1-6177-01 | exon_skip_9824 | 150482137 | 150482238 | 150482172 | 150482172 | Nonsense_Mutation | C | T | p.R53* |
| STAD | TCGA-F1-6177-01 | exon_skip_9824 | 150482137 | 150482238 | 150482172 | 150482172 | Nonsense_Mutation | C | T | p.R53X |
| STAD | TCGA-F1-6177-01 | exon_skip_9828 | 150482137 | 150482478 | 150482172 | 150482172 | Nonsense_Mutation | C | T | p.R53* |
| STAD | TCGA-F1-6177-01 | exon_skip_9828 | 150482137 | 150482478 | 150482172 | 150482172 | Nonsense_Mutation | C | T | p.R53X |
| LUAD | TCGA-17-Z030-01 | exon_skip_9828 | 150482137 | 150482478 | 150482377 | 150482377 | Nonsense_Mutation | C | A | p.S95* |
| BLCA | TCGA-GD-A2C5-01 | exon_skip_9828 | 150482137 | 150482478 | 150482400 | 150482400 | Nonsense_Mutation | C | T | p.Q76* |
| BLCA | TCGA-GD-A2C5-01 | exon_skip_9839 | 150482398 | 150482478 | 150482400 | 150482400 | Nonsense_Mutation | C | T | p.Q76* |
| SARC | TCGA-VT-A80J-01 | exon_skip_9850 | 150483933 | 150484307 | 150484038 | 150484038 | Nonsense_Mutation | G | T | p.E272* |
| SARC | TCGA-VT-A80J-02 | exon_skip_9850 | 150483933 | 150484307 | 150484038 | 150484038 | Nonsense_Mutation | G | T | p.E272* |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-F1-6177-01 |
| Cancer type: STAD | |
| ESID: exon_skip_9828 | |
| Skipped exon start: 150482137 | |
| Skipped exon end: 150482478 | |
| Mutation start: 150482172 | |
| Mutation end: 150482172 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: C | |
| Mutation seq: T | |
| AAchange: p.R53X | |
| Sample: TCGA-F1-6177-01 |
| Cancer type: STAD | |
| ESID: exon_skip_9822 | |
| Skipped exon start: 150482137 | |
| Skipped exon end: 150482232 | |
| Mutation start: 150482172 | |
| Mutation end: 150482172 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: C | |
| Mutation seq: T | |
| AAchange: p.R53X | |
| Sample: TCGA-F1-6177-01 |
| Cancer type: STAD | |
| ESID: exon_skip_9824 | |
| Skipped exon start: 150482137 | |
| Skipped exon end: 150482238 | |
| Mutation start: 150482172 | |
| Mutation end: 150482172 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: C | |
| Mutation seq: T | |
| AAchange: p.R53X | |
| Sample: TCGA-F1-6177-01 |
| Cancer type: STAD | |
| ESID: exon_skip_9828 | |
| Skipped exon start: 150482137 | |
| Skipped exon end: 150482478 | |
| Mutation start: 150482172 | |
| Mutation end: 150482172 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: C | |
| Mutation seq: T | |
| AAchange: p.R53* | |
| Sample: TCGA-F1-6177-01 |
| Cancer type: STAD | |
| ESID: exon_skip_9822 | |
| Skipped exon start: 150482137 | |
| Skipped exon end: 150482232 | |
| Mutation start: 150482172 | |
| Mutation end: 150482172 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: C | |
| Mutation seq: T | |
| AAchange: p.R53* | |
| Sample: TCGA-F1-6177-01 |
| Cancer type: STAD | |
| ESID: exon_skip_9824 | |
| Skipped exon start: 150482137 | |
| Skipped exon end: 150482238 | |
| Mutation start: 150482172 | |
| Mutation end: 150482172 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: C | |
| Mutation seq: T | |
| AAchange: p.R53* | |
exon_skip_105325_STAD_TCGA-F1-6177-01.png | |
exon_skip_105326_STAD_TCGA-F1-6177-01.png | |
exon_skip_285856_STAD_TCGA-F1-6177-01.png | |
exon_skip_303345_STAD_TCGA-F1-6177-01.png | |
exon_skip_319572_STAD_TCGA-F1-6177-01.png | |
exon_skip_332544_STAD_TCGA-F1-6177-01.png | |
exon_skip_377238_STAD_TCGA-F1-6177-01.png | |
exon_skip_383047_STAD_TCGA-F1-6177-01.png | |
exon_skip_423141_STAD_TCGA-F1-6177-01.png | |
exon_skip_423142_STAD_TCGA-F1-6177-01.png | |
exon_skip_470537_STAD_TCGA-F1-6177-01.png | |
exon_skip_477308_STAD_TCGA-F1-6177-01.png | |
exon_skip_494000_STAD_TCGA-F1-6177-01.png | |
exon_skip_74586_STAD_TCGA-F1-6177-01.png | |
exon_skip_77151_STAD_TCGA-F1-6177-01.png | |
exon_skip_77155_STAD_TCGA-F1-6177-01.png | |
exon_skip_9828_STAD_TCGA-F1-6177-01.png | |
 | Sample: TCGA-BG-A0M0-01 |
| Cancer type: UCEC | |
| ESID: exon_skip_9828 | |
| Skipped exon start: 150482137 | |
| Skipped exon end: 150482478 | |
| Mutation start: 150482150 | |
| Mutation end: 150482151 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: C | |
| AAchange: p.A45fs | |
| Sample: TCGA-BG-A0M0-01 |
| Cancer type: UCEC | |
| ESID: exon_skip_9822 | |
| Skipped exon start: 150482137 | |
| Skipped exon end: 150482232 | |
| Mutation start: 150482150 | |
| Mutation end: 150482151 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: C | |
| AAchange: p.A45fs | |
| Sample: TCGA-BG-A0M0-01 |
| Cancer type: UCEC | |
| ESID: exon_skip_9824 | |
| Skipped exon start: 150482137 | |
| Skipped exon end: 150482238 | |
| Mutation start: 150482150 | |
| Mutation end: 150482151 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: C | |
| AAchange: p.A45fs | |
exon_skip_347690_UCEC_TCGA-BG-A0M0-01.png | |
exon_skip_9828_UCEC_TCGA-BG-A0M0-01.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 |
| NCIH1573_LUNG | 150485201 | 150485288 | 150485236 | 150485236 | Frame_Shift_Del | C | - | p.A447fs |
| SNU324_PANCREAS | 150482137 | 150482478 | 150482143 | 150482143 | Missense_Mutation | A | G | p.Y43C |
| SNU324_PANCREAS | 150482137 | 150482232 | 150482143 | 150482143 | Missense_Mutation | A | G | p.Y43C |
| SNU324_PANCREAS | 150482137 | 150482238 | 150482143 | 150482143 | Missense_Mutation | A | G | p.Y43C |
| NCIH2373_PLEURA | 150482137 | 150482478 | 150482155 | 150482155 | Missense_Mutation | C | A | p.P47H |
| NCIH2373_PLEURA | 150482137 | 150482232 | 150482155 | 150482155 | Missense_Mutation | C | A | p.P47H |
| NCIH2373_PLEURA | 150482137 | 150482238 | 150482155 | 150482155 | Missense_Mutation | C | A | p.P47H |
| KYSE510_OESOPHAGUS | 150482398 | 150482478 | 150482415 | 150482415 | Missense_Mutation | C | G | p.Q81E |
| KYSE510_OESOPHAGUS | 150482137 | 150482478 | 150482415 | 150482415 | Missense_Mutation | C | G | p.Q81E |
| KM12_LARGE_INTESTINE | 150482398 | 150482478 | 150482425 | 150482425 | Missense_Mutation | C | T | p.T84I |
| KM12_LARGE_INTESTINE | 150482137 | 150482478 | 150482425 | 150482425 | Missense_Mutation | C | T | p.T84I |
| UMC11_LUNG | 150483933 | 150484307 | 150483952 | 150483952 | Missense_Mutation | G | A | p.R243Q |
| LB1047EBV_MATCHED_NORMAL_TISSUE | 150483933 | 150484307 | 150483985 | 150483985 | Missense_Mutation | G | A | p.R254Q |
| LB1047RCC_KIDNEY | 150483933 | 150484307 | 150483985 | 150483985 | Missense_Mutation | G | A | p.R254Q |
| HEC1A_ENDOMETRIUM | 150483933 | 150484307 | 150484005 | 150484005 | Missense_Mutation | C | T | p.R261W |
| NUGC3_STOMACH | 150483933 | 150484307 | 150484052 | 150484052 | Missense_Mutation | G | T | p.Q276H |
| SCC25_UPPER_AERODIGESTIVE_TRACT | 150483933 | 150484307 | 150484053 | 150484053 | Missense_Mutation | C | T | p.P277S |
| SW579_THYROID | 150483933 | 150484307 | 150484057 | 150484057 | Missense_Mutation | A | G | p.H278R |
| SNU81_LARGE_INTESTINE | 150483933 | 150484307 | 150484068 | 150484068 | Missense_Mutation | C | T | p.R282W |
| EKVX_LUNG | 150483933 | 150484307 | 150484173 | 150484173 | Missense_Mutation | C | T | p.R317C |
| SNU520_STOMACH | 150483933 | 150484307 | 150484269 | 150484269 | Missense_Mutation | T | C | p.C349R |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ECM1 |
| 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 ECM1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ECM1 |
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RelatedDrugs for ECM1 |
| 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 ECM1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| ECM1 | C0000786 | Spontaneous abortion | 1 | CTD_human |
| ECM1 | C0009324 | Ulcerative Colitis | 1 | CTD_human |
| ECM1 | C0023795 | Lipoid Proteinosis of Urbach and Wiethe | 1 | CTD_human;ORPHANET;UNIPROT |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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