|
||||||
|
 | |
| |
| |
| |
| Open reading frame (ORF) annotation in the exon skipping event |
| |
| |
| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
| |
|
Gene summary for SAAL1 |
 Gene summary |
| Gene information | Gene symbol | SAAL1 | Gene ID | 113174 |
| Gene name | serum amyloid A like 1 | |
| Synonyms | SPACIA1 | |
| Cytomap | 11p15.1 | |
| Type of gene | protein-coding | |
| Description | protein SAAL1synoviocyte proliferation-associated in collagen-induced arthritis 1synoviocyte proliferation-associated in collagen-induced arthritis protein 1 | |
| Modification date | 20180523 | |
| UniProtAcc | Q96ER3 | |
| Context | PubMed: SAAL1 [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 |
Top |
Exon skipping events across known transcript of Ensembl for SAAL1 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. |
 |
Top |
Gene isoform structures and expression levels for SAAL1 |
| Expression levels of gene isoforms across TCGA. |
 |
| Expression levels of gene isoforms across GTEx. |
 |
Top |
Exon skipping events with PSIs in TCGA for SAAL1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_69748 | 11 | 18102957:18103050:18105081:18105256:18108412:18108507 | 18105081:18105256 | ENSG00000166788.5 | ENST00000534721.1 |
| exon_skip_69749 | 11 | 18102957:18103050:18105081:18105275:18108412:18108507 | 18105081:18105275 | ENSG00000166788.5 | ENST00000300013.4 |
| exon_skip_69750 | 11 | 18102957:18103050:18105081:18105278:18108412:18108507 | 18105081:18105278 | ENSG00000166788.5 | ENST00000524803.1 |
| exon_skip_69752 | 11 | 18102957:18103050:18108412:18108601:18108689:18108753 | 18108412:18108601 | ENSG00000166788.5 | ENST00000531751.1 |
| exon_skip_69754 | 11 | 18105081:18105278:18108412:18108601:18108689:18108753 | 18108412:18108601 | ENSG00000166788.5 | ENST00000524803.1,ENST00000531216.1 |
| exon_skip_69756 | 11 | 18111980:18112040:18113791:18113871:18118317:18118401 | 18113791:18113871 | ENSG00000166788.5 | ENST00000529318.1,ENST00000524803.1,ENST00000300013.4,ENST00000533851.1,ENST00000531581.1 |
| exon_skip_69758 | 11 | 18113791:18113871:18118317:18118401:18124779:18124893 | 18118317:18118401 | ENSG00000166788.5 | ENST00000529318.1,ENST00000524803.1,ENST00000300013.4,ENST00000533851.1,ENST00000530180.1,ENST00000531581.1 |
| exon_skip_69759 | 11 | 18118317:18118401:18124779:18124893:18127453:18127566 | 18124779:18124893 | ENSG00000166788.5 | ENST00000529318.1,ENST00000524803.1,ENST00000300013.4,ENST00000533851.1,ENST00000530736.1,ENST00000530180.1,ENST00000531581.1 |
| PSI values of skipped exons in TCGA. |
 |
Top |
Exon skipping events with PSIs in GTEx for SAAL1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_69748 | 11 | 18102957:18103050:18105081:18105256:18108412:18108507 | 18105081:18105256 | ENSG00000166788.5 | ENST00000534721.1 |
| exon_skip_69749 | 11 | 18102957:18103050:18105081:18105275:18108412:18108507 | 18105081:18105275 | ENSG00000166788.5 | ENST00000300013.4 |
| exon_skip_69750 | 11 | 18102957:18103050:18105081:18105278:18108412:18108507 | 18105081:18105278 | ENSG00000166788.5 | ENST00000524803.1 |
| exon_skip_69752 | 11 | 18102957:18103050:18108412:18108601:18108689:18108753 | 18108412:18108601 | ENSG00000166788.5 | ENST00000531751.1 |
| exon_skip_69754 | 11 | 18105081:18105278:18108412:18108601:18108689:18108753 | 18108412:18108601 | ENSG00000166788.5 | ENST00000524803.1,ENST00000531216.1 |
| exon_skip_69756 | 11 | 18111980:18112040:18113791:18113871:18118317:18118401 | 18113791:18113871 | ENSG00000166788.5 | ENST00000524803.1,ENST00000300013.4,ENST00000531581.1,ENST00000529318.1,ENST00000533851.1 |
| exon_skip_69758 | 11 | 18113791:18113871:18118317:18118401:18124779:18124893 | 18118317:18118401 | ENSG00000166788.5 | ENST00000524803.1,ENST00000300013.4,ENST00000531581.1,ENST00000529318.1,ENST00000533851.1,ENST00000530180.1 |
| exon_skip_69759 | 11 | 18118317:18118401:18124779:18124893:18127453:18127566 | 18124779:18124893 | ENSG00000166788.5 | ENST00000524803.1,ENST00000300013.4,ENST00000531581.1,ENST00000529318.1,ENST00000533851.1,ENST00000530180.1,ENST00000530736.1 |
| PSI values of skipped exons in GTEx. |
 |
| * Skipped exon sequences. |
Top |
Open reading frame (ORF) annotation in the exon skipping event for SAAL1 |
| 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 |
| ENST00000524803 | 18105081 | 18105278 | Frame-shift |
| ENST00000524803 | 18113791 | 18113871 | Frame-shift |
| ENST00000524803 | 18108412 | 18108601 | In-frame |
| ENST00000524803 | 18118317 | 18118401 | In-frame |
| ENST00000524803 | 18124779 | 18124893 | 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 |
| ENST00000524803 | 18105081 | 18105278 | Frame-shift |
| ENST00000524803 | 18113791 | 18113871 | Frame-shift |
| ENST00000524803 | 18108412 | 18108601 | In-frame |
| ENST00000524803 | 18118317 | 18118401 | In-frame |
| ENST00000524803 | 18124779 | 18124893 | In-frame |
Top |
Infer the effects of exon skipping event on protein functional features for SAAL1 |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
 |
| 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 |
| ENST00000524803 | 1599 | 474 | 18124779 | 18124893 | 186 | 299 | 45 | 83 |
| ENST00000524803 | 1599 | 474 | 18118317 | 18118401 | 300 | 383 | 83 | 111 |
| ENST00000524803 | 1599 | 474 | 18108412 | 18108601 | 904 | 1092 | 284 | 347 |
| 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 |
| ENST00000524803 | 1599 | 474 | 18124779 | 18124893 | 186 | 299 | 45 | 83 |
| ENST00000524803 | 1599 | 474 | 18118317 | 18118401 | 300 | 383 | 83 | 111 |
| ENST00000524803 | 1599 | 474 | 18108412 | 18108601 | 904 | 1092 | 284 | 347 |
| 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 |
| Q96ER3 | 45 | 83 | 1 | 474 | Chain | ID=PRO_0000279540;Note=Protein SAAL1 |
| Q96ER3 | 83 | 111 | 1 | 474 | Chain | ID=PRO_0000279540;Note=Protein SAAL1 |
| Q96ER3 | 284 | 347 | 1 | 474 | Chain | ID=PRO_0000279540;Note=Protein SAAL1 |
| Q96ER3 | 284 | 347 | 315 | 315 | Natural variant | ID=VAR_053846;Note=I->V;Dbxref=dbSNP:rs35525096 |
| 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 |
| Q96ER3 | 45 | 83 | 1 | 474 | Chain | ID=PRO_0000279540;Note=Protein SAAL1 |
| Q96ER3 | 83 | 111 | 1 | 474 | Chain | ID=PRO_0000279540;Note=Protein SAAL1 |
| Q96ER3 | 284 | 347 | 1 | 474 | Chain | ID=PRO_0000279540;Note=Protein SAAL1 |
| Q96ER3 | 284 | 347 | 315 | 315 | Natural variant | ID=VAR_053846;Note=I->V;Dbxref=dbSNP:rs35525096 |
Top |
SNVs in the skipped exons for SAAL1 |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
 |
| - Differential PSIs between mutated versus non-mutated samples. |
SAAL1_LIHC_exon_skip_69749_psi_boxplot.png |
SAAL1_LIHC_exon_skip_69750_psi_boxplot.png |
SAAL1_STAD_exon_skip_69749_psi_boxplot.png |
SAAL1_STAD_exon_skip_69750_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-DD-A39Y-01 | exon_skip_69748 | 18105082 | 18105256 | 18105138 | 18105138 | Frame_Shift_Del | T | - | p.I395fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_69749 | 18105082 | 18105275 | 18105138 | 18105138 | Frame_Shift_Del | T | - | p.I395fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_69750 | 18105082 | 18105278 | 18105138 | 18105138 | Frame_Shift_Del | T | - | p.I395fs |
| LIHC | TCGA-MI-A75H-01 | exon_skip_69748 | 18105082 | 18105256 | 18105155 | 18105155 | Frame_Shift_Del | T | - | p.D389fs |
| LIHC | TCGA-MI-A75H-01 | exon_skip_69748 | 18105082 | 18105256 | 18105155 | 18105155 | Frame_Shift_Del | T | - | p.D390fs |
| LIHC | TCGA-MI-A75H-01 | exon_skip_69749 | 18105082 | 18105275 | 18105155 | 18105155 | Frame_Shift_Del | T | - | p.D389fs |
| LIHC | TCGA-MI-A75H-01 | exon_skip_69749 | 18105082 | 18105275 | 18105155 | 18105155 | Frame_Shift_Del | T | - | p.D390fs |
| LIHC | TCGA-MI-A75H-01 | exon_skip_69750 | 18105082 | 18105278 | 18105155 | 18105155 | Frame_Shift_Del | T | - | p.D389fs |
| LIHC | TCGA-MI-A75H-01 | exon_skip_69750 | 18105082 | 18105278 | 18105155 | 18105155 | Frame_Shift_Del | T | - | p.D390fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_69748 | 18105082 | 18105256 | 18105214 | 18105214 | Frame_Shift_Del | T | - | p.K369fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_69749 | 18105082 | 18105275 | 18105214 | 18105214 | Frame_Shift_Del | T | - | p.K369fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_69750 | 18105082 | 18105278 | 18105214 | 18105214 | Frame_Shift_Del | T | - | p.K369fs |
| STAD | TCGA-BR-A4QL-01 | exon_skip_69748 | 18105082 | 18105256 | 18105214 | 18105214 | Frame_Shift_Del | T | - | p.K369fs |
| STAD | TCGA-BR-A4QL-01 | exon_skip_69748 | 18105082 | 18105256 | 18105214 | 18105214 | Frame_Shift_Del | T | - | p.P370fs |
| STAD | TCGA-BR-A4QL-01 | exon_skip_69749 | 18105082 | 18105275 | 18105214 | 18105214 | Frame_Shift_Del | T | - | p.K369fs |
| STAD | TCGA-BR-A4QL-01 | exon_skip_69749 | 18105082 | 18105275 | 18105214 | 18105214 | Frame_Shift_Del | T | - | p.P370fs |
| STAD | TCGA-BR-A4QL-01 | exon_skip_69750 | 18105082 | 18105278 | 18105214 | 18105214 | Frame_Shift_Del | T | - | p.K369fs |
| STAD | TCGA-BR-A4QL-01 | exon_skip_69750 | 18105082 | 18105278 | 18105214 | 18105214 | Frame_Shift_Del | T | - | p.P370fs |
| BRCA | TCGA-BH-A0BA-01 | exon_skip_69749 | 18105082 | 18105275 | 18105265 | 18105281 | Frame_Shift_Del | TAGAGGAAGATCTACTG | - | p.V348fs |
| BRCA | TCGA-BH-A0BA-01 | exon_skip_69750 | 18105082 | 18105278 | 18105265 | 18105281 | Frame_Shift_Del | TAGAGGAAGATCTACTG | - | p.V348fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_69754 exon_skip_69752 | 18108413 | 18108601 | 18108473 | 18108473 | Frame_Shift_Del | A | - | p.S328fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_69754 exon_skip_69752 | 18108413 | 18108601 | 18108504 | 18108504 | Frame_Shift_Del | T | - | p.Q317fs |
| STAD | TCGA-BR-6852-01 | exon_skip_69754 exon_skip_69752 | 18108413 | 18108601 | 18108472 | 18108473 | Frame_Shift_Ins | - | A | p.S328fs |
| STAD | TCGA-BR-6852-01 | exon_skip_69754 exon_skip_69752 | 18108413 | 18108601 | 18108473 | 18108474 | Frame_Shift_Ins | - | A | p.S328fs |
| LIHC | TCGA-BC-A112-01 | exon_skip_69756 | 18113792 | 18113871 | 18113797 | 18113798 | Frame_Shift_Ins | - | T | p.T136fs |
| KIRC | TCGA-A3-3313-01 | exon_skip_69759 | 18124780 | 18124893 | 18124827 | 18124828 | Frame_Shift_Ins | - | T | p.N68fs |
| LUAD | TCGA-05-4422-01 | exon_skip_69754 exon_skip_69752 | 18108413 | 18108601 | 18108506 | 18108506 | Nonsense_Mutation | G | A | p.Q317* |
| BRCA | TCGA-BH-A0WA-01 | exon_skip_69759 | 18124780 | 18124893 | 18124894 | 18124894 | Splice_Site | C | T | e2-1 |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-BR-6852-01 |
| Cancer type: STAD | |
| ESID: exon_skip_69752 | |
| Skipped exon start: 18108413 | |
| Skipped exon end: 18108601 | |
| Mutation start: 18108472 | |
| Mutation end: 18108473 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: A | |
| AAchange: p.S328fs | |
| Sample: TCGA-BR-6852-01 |
| Cancer type: STAD | |
| ESID: exon_skip_69752 | |
| Skipped exon start: 18108413 | |
| Skipped exon end: 18108601 | |
| Mutation start: 18108473 | |
| Mutation end: 18108474 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: A | |
| AAchange: p.S328fs | |
exon_skip_347530_STAD_TCGA-BR-6852-01.png | |
exon_skip_374468_STAD_TCGA-BR-6852-01.png | |
exon_skip_374469_STAD_TCGA-BR-6852-01.png | |
exon_skip_383994_STAD_TCGA-BR-6852-01.png | |
exon_skip_425876_STAD_TCGA-BR-6852-01.png | |
exon_skip_468121_STAD_TCGA-BR-6852-01.png | |
exon_skip_500520_STAD_TCGA-BR-6852-01.png | |
exon_skip_69752_STAD_TCGA-BR-6852-01.png | |
 | Sample: TCGA-MI-A75H-01 |
| Cancer type: LIHC | |
| ESID: exon_skip_69750 | |
| Skipped exon start: 18105082 | |
| Skipped exon end: 18105278 | |
| Mutation start: 18105155 | |
| Mutation end: 18105155 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: T | |
| Mutation seq: - | |
| AAchange: p.D389fs | |
| Sample: TCGA-MI-A75H-01 |
| Cancer type: LIHC | |
| ESID: exon_skip_69748 | |
| Skipped exon start: 18105082 | |
| Skipped exon end: 18105256 | |
| Mutation start: 18105155 | |
| Mutation end: 18105155 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: T | |
| Mutation seq: - | |
| AAchange: p.D389fs | |
| Sample: TCGA-MI-A75H-01 |
| Cancer type: LIHC | |
| ESID: exon_skip_69749 | |
| Skipped exon start: 18105082 | |
| Skipped exon end: 18105275 | |
| Mutation start: 18105155 | |
| Mutation end: 18105155 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: T | |
| Mutation seq: - | |
| AAchange: p.D389fs | |
| Sample: TCGA-MI-A75H-01 |
| Cancer type: LIHC | |
| ESID: exon_skip_69750 | |
| Skipped exon start: 18105082 | |
| Skipped exon end: 18105278 | |
| Mutation start: 18105155 | |
| Mutation end: 18105155 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: T | |
| Mutation seq: - | |
| AAchange: p.D390fs | |
| Sample: TCGA-MI-A75H-01 |
| Cancer type: LIHC | |
| ESID: exon_skip_69748 | |
| Skipped exon start: 18105082 | |
| Skipped exon end: 18105256 | |
| Mutation start: 18105155 | |
| Mutation end: 18105155 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: T | |
| Mutation seq: - | |
| AAchange: p.D390fs | |
| Sample: TCGA-MI-A75H-01 |
| Cancer type: LIHC | |
| ESID: exon_skip_69749 | |
| Skipped exon start: 18105082 | |
| Skipped exon end: 18105275 | |
| Mutation start: 18105155 | |
| Mutation end: 18105155 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: T | |
| Mutation seq: - | |
| AAchange: p.D390fs | |
exon_skip_69749_LIHC_TCGA-MI-A75H-01.png | |
exon_skip_69750_LIHC_TCGA-MI-A75H-01.png | |
 | Sample: TCGA-MI-A75H-01 |
| Cancer type: LIHC | |
| ESID: exon_skip_69750 | |
| Skipped exon start: 18105082 | |
| Skipped exon end: 18105278 | |
| Mutation start: 18105155 | |
| Mutation end: 18105155 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: T | |
| Mutation seq: - | |
| AAchange: p.D389fs | |
| Sample: TCGA-MI-A75H-01 |
| Cancer type: LIHC | |
| ESID: exon_skip_69748 | |
| Skipped exon start: 18105082 | |
| Skipped exon end: 18105256 | |
| Mutation start: 18105155 | |
| Mutation end: 18105155 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: T | |
| Mutation seq: - | |
| AAchange: p.D389fs | |
| Sample: TCGA-MI-A75H-01 |
| Cancer type: LIHC | |
| ESID: exon_skip_69749 | |
| Skipped exon start: 18105082 | |
| Skipped exon end: 18105275 | |
| Mutation start: 18105155 | |
| Mutation end: 18105155 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: T | |
| Mutation seq: - | |
| AAchange: p.D389fs | |
| Sample: TCGA-MI-A75H-01 |
| Cancer type: LIHC | |
| ESID: exon_skip_69750 | |
| Skipped exon start: 18105082 | |
| Skipped exon end: 18105278 | |
| Mutation start: 18105155 | |
| Mutation end: 18105155 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: T | |
| Mutation seq: - | |
| AAchange: p.D390fs | |
| Sample: TCGA-MI-A75H-01 |
| Cancer type: LIHC | |
| ESID: exon_skip_69748 | |
| Skipped exon start: 18105082 | |
| Skipped exon end: 18105256 | |
| Mutation start: 18105155 | |
| Mutation end: 18105155 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: T | |
| Mutation seq: - | |
| AAchange: p.D390fs | |
| Sample: TCGA-MI-A75H-01 |
| Cancer type: LIHC | |
| ESID: exon_skip_69749 | |
| Skipped exon start: 18105082 | |
| Skipped exon end: 18105275 | |
| Mutation start: 18105155 | |
| Mutation end: 18105155 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: T | |
| Mutation seq: - | |
| AAchange: p.D390fs | |
| exon_skip_69749_LIHC_TCGA-MI-A75H-01.png | |
| exon_skip_69750_LIHC_TCGA-MI-A75H-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 |
| NCIH1048_LUNG | 18105082 | 18105278 | 18105213 | 18105214 | Frame_Shift_Ins | - | T | p.P370fs |
| NCIH1048_LUNG | 18105082 | 18105256 | 18105213 | 18105214 | Frame_Shift_Ins | - | T | p.P370fs |
| NCIH1048_LUNG | 18105082 | 18105275 | 18105213 | 18105214 | Frame_Shift_Ins | - | T | p.P370fs |
| EN_ENDOMETRIUM | 18124780 | 18124893 | 18124869 | 18124870 | Frame_Shift_Ins | - | T | p.S54fs |
| HUH28_BILIARY_TRACT | 18108413 | 18108601 | 18108506 | 18108508 | In_Frame_Del | GAA | - | p.L316del |
| ECC10_STOMACH | 18108413 | 18108601 | 18108506 | 18108508 | In_Frame_Del | GAA | - | p.L316del |
| IALM_LUNG | 18108413 | 18108601 | 18108506 | 18108508 | In_Frame_Del | GAA | - | p.L316del |
| NO10_CENTRAL_NERVOUS_SYSTEM | 18108413 | 18108601 | 18108506 | 18108508 | In_Frame_Del | GAA | - | p.L316del |
| HCC2935_LUNG | 18105082 | 18105278 | 18105142 | 18105142 | Missense_Mutation | C | G | p.L393F |
| HCC2935_LUNG | 18105082 | 18105256 | 18105142 | 18105142 | Missense_Mutation | C | G | p.L393F |
| HCC2935_LUNG | 18105082 | 18105275 | 18105142 | 18105142 | Missense_Mutation | C | G | p.L393F |
| NCIH1869_LUNG | 18105082 | 18105278 | 18105156 | 18105156 | Missense_Mutation | C | A | p.D389Y |
| NCIH1869_LUNG | 18105082 | 18105256 | 18105156 | 18105156 | Missense_Mutation | C | A | p.D389Y |
| NCIH1869_LUNG | 18105082 | 18105275 | 18105156 | 18105156 | Missense_Mutation | C | A | p.D389Y |
| MDAMB361_BREAST | 18105082 | 18105278 | 18105194 | 18105194 | Missense_Mutation | G | C | p.S376C |
| MDAMB361_BREAST | 18105082 | 18105256 | 18105194 | 18105194 | Missense_Mutation | G | C | p.S376C |
| MDAMB361_BREAST | 18105082 | 18105275 | 18105194 | 18105194 | Missense_Mutation | G | C | p.S376C |
| MDAMB361_BREAST | 18105082 | 18105278 | 18105222 | 18105222 | Missense_Mutation | G | C | p.Q367E |
| MDAMB361_BREAST | 18105082 | 18105256 | 18105222 | 18105222 | Missense_Mutation | G | C | p.Q367E |
| MDAMB361_BREAST | 18105082 | 18105275 | 18105222 | 18105222 | Missense_Mutation | G | C | p.Q367E |
| KM12_LARGE_INTESTINE | 18105082 | 18105278 | 18105230 | 18105230 | Missense_Mutation | T | A | p.E364V |
| KM12_LARGE_INTESTINE | 18105082 | 18105256 | 18105230 | 18105230 | Missense_Mutation | T | A | p.E364V |
| KM12_LARGE_INTESTINE | 18105082 | 18105275 | 18105230 | 18105230 | Missense_Mutation | T | A | p.E364V |
| NCIH513_PLEURA | 18118318 | 18118401 | 18118395 | 18118396 | Missense_Mutation | CC | AA | p.A86S |
| HEC251_ENDOMETRIUM | 18118318 | 18118401 | 18118380 | 18118380 | Nonsense_Mutation | C | A | p.E91* |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SAAL1 |
| 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 |
Top |
Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SAAL1 |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SAAL1 |
Top |
RelatedDrugs for SAAL1 |
| 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 |
Top |
RelatedDiseases for SAAL1 |
| 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)
|