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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 SMAP1 |
 Gene summary |
| Gene information | Gene symbol | SMAP1 | Gene ID | 60682 |
| Gene name | small ArfGAP 1 | |
| Synonyms | SMAP-1 | |
| Cytomap | 6q13 | |
| Type of gene | protein-coding | |
| Description | stromal membrane-associated protein 1stromal membrane-associated GTPase-activating protein 1 | |
| Modification date | 20180523 | |
| UniProtAcc | Q8IYB5 | |
| Context | PubMed: SMAP1 [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 |
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Exon skipping events across known transcript of Ensembl for SMAP1 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 SMAP1 |
| 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 SMAP1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_453003 | 6 | 71377620:71377844:71442080:71442214:71464682:71464768 | 71442080:71442214 | ENSG00000112305.10 | ENST00000316999.5,ENST00000370455.3,ENST00000422334.2 |
| exon_skip_453010 | 6 | 71483091:71483128:71501391:71501472:71508359:71508440 | 71501391:71501472 | ENSG00000112305.10 | ENST00000370455.3,ENST00000439432.1 |
| exon_skip_453014 | 6 | 71483091:71483128:71508359:71508440:71546643:71546731 | 71508359:71508440 | ENSG00000112305.10 | ENST00000370452.3,ENST00000316999.5 |
| exon_skip_453018 | 6 | 71501391:71501472:71508359:71508440:71546643:71546731 | 71508359:71508440 | ENSG00000112305.10 | ENST00000370455.3,ENST00000439432.1 |
| exon_skip_453020 | 6 | 71508359:71508440:71546643:71546731:71562242:71562367 | 71546643:71546731 | ENSG00000112305.10 | ENST00000370452.3,ENST00000316999.5,ENST00000370455.3 |
| exon_skip_453022 | 6 | 71562242:71562367:71566561:71566733:71567624:71567932 | 71566561:71566733 | ENSG00000112305.10 | ENST00000370452.3,ENST00000316999.5,ENST00000370455.3 |
| exon_skip_453026 | 6 | 71566561:71566733:71567624:71567932:71569902:71570869 | 71567624:71567932 | ENSG00000112305.10 | ENST00000316999.5,ENST00000370455.3 |
| exon_skip_453028 | 6 | 71567624:71567932:71569031:71569119:71569902:71570005 | 71569031:71569119 | ENSG00000112305.10 | ENST00000370452.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for SMAP1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_453003 | 6 | 71377620:71377844:71442080:71442214:71464682:71464768 | 71442080:71442214 | ENSG00000112305.10 | ENST00000316999.5,ENST00000370455.3,ENST00000422334.2 |
| exon_skip_453010 | 6 | 71483091:71483128:71501391:71501472:71508359:71508440 | 71501391:71501472 | ENSG00000112305.10 | ENST00000370455.3,ENST00000439432.1 |
| exon_skip_453014 | 6 | 71483091:71483128:71508359:71508440:71546643:71546731 | 71508359:71508440 | ENSG00000112305.10 | ENST00000370452.3,ENST00000316999.5 |
| exon_skip_453018 | 6 | 71501391:71501472:71508359:71508440:71546643:71546731 | 71508359:71508440 | ENSG00000112305.10 | ENST00000370455.3,ENST00000439432.1 |
| exon_skip_453020 | 6 | 71508359:71508440:71546643:71546731:71562242:71562367 | 71546643:71546731 | ENSG00000112305.10 | ENST00000370452.3,ENST00000316999.5,ENST00000370455.3 |
| exon_skip_453022 | 6 | 71562242:71562367:71566561:71566733:71567624:71567932 | 71566561:71566733 | ENSG00000112305.10 | ENST00000370452.3,ENST00000316999.5,ENST00000370455.3 |
| exon_skip_453026 | 6 | 71566561:71566733:71567624:71567932:71569902:71570869 | 71567624:71567932 | ENSG00000112305.10 | ENST00000316999.5,ENST00000370455.3 |
| exon_skip_453028 | 6 | 71567624:71567932:71569031:71569119:71569902:71570005 | 71569031:71569119 | ENSG00000112305.10 | ENST00000370452.3 |
| 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 SMAP1 |
| 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 |
| ENST00000370455 | 71442080 | 71442214 | Frame-shift |
| ENST00000370455 | 71546643 | 71546731 | Frame-shift |
| ENST00000370455 | 71566561 | 71566733 | Frame-shift |
| ENST00000370455 | 71567624 | 71567932 | Frame-shift |
| ENST00000370455 | 71501391 | 71501472 | In-frame |
| ENST00000370455 | 71508359 | 71508440 | 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 |
| ENST00000370455 | 71442080 | 71442214 | Frame-shift |
| ENST00000370455 | 71546643 | 71546731 | Frame-shift |
| ENST00000370455 | 71566561 | 71566733 | Frame-shift |
| ENST00000370455 | 71567624 | 71567932 | Frame-shift |
| ENST00000370455 | 71501391 | 71501472 | In-frame |
| ENST00000370455 | 71508359 | 71508440 | In-frame |
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Infer the effects of exon skipping event on protein functional features for SMAP1 |
| 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 |
| ENST00000370455 | 3350 | 467 | 71501391 | 71501472 | 663 | 743 | 138 | 165 |
| 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 |
| ENST00000370455 | 3350 | 467 | 71501391 | 71501472 | 663 | 743 | 138 | 165 |
| 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 |
| Q8IYB5 | 138 | 165 | 139 | 165 | Alternative sequence | ID=VSP_018502;Note=In isoform 2 and isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:12119110,ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334,ECO:0000303|Ref.4;Dbxref=PMID:12119110,PMID:1 |
| Q8IYB5 | 138 | 165 | 1 | 467 | Chain | ID=PRO_0000235838;Note=Stromal membrane-associated protein 1 |
| 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 |
| Q8IYB5 | 138 | 165 | 139 | 165 | Alternative sequence | ID=VSP_018502;Note=In isoform 2 and isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:12119110,ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334,ECO:0000303|Ref.4;Dbxref=PMID:12119110,PMID:1 |
| Q8IYB5 | 138 | 165 | 1 | 467 | Chain | ID=PRO_0000235838;Note=Stromal membrane-associated protein 1 |
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SNVs in the skipped exons for SMAP1 |
| - 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. |
SMAP1_HNSC_exon_skip_453010_psi_boxplot.png |
SMAP1_LIHC_exon_skip_453010_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-A3A0-01 | exon_skip_453003 | 71442081 | 71442214 | 71442173 | 71442173 | Frame_Shift_Del | A | - | p.K71fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_453010 | 71501392 | 71501472 | 71501458 | 71501458 | Frame_Shift_Del | A | - | p.K161fs |
| ACC | TCGA-PK-A5HA-01 | exon_skip_453014 exon_skip_453018 | 71508360 | 71508440 | 71508370 | 71508370 | Frame_Shift_Del | A | - | p.E169fs |
| BLCA | TCGA-BT-A20V-01 | exon_skip_453014 exon_skip_453018 | 71508360 | 71508440 | 71508370 | 71508370 | Frame_Shift_Del | A | - | p.E169fs |
| BLCA | TCGA-E7-A5KE-01 | exon_skip_453014 exon_skip_453018 | 71508360 | 71508440 | 71508370 | 71508370 | Frame_Shift_Del | A | - | p.E169fs |
| BLCA | TCGA-G2-AA3C-01 | exon_skip_453014 exon_skip_453018 | 71508360 | 71508440 | 71508370 | 71508370 | Frame_Shift_Del | A | - | p.E169fs |
| BLCA | TCGA-K4-A5RH-01 | exon_skip_453014 exon_skip_453018 | 71508360 | 71508440 | 71508370 | 71508370 | Frame_Shift_Del | A | - | p.E169fs |
| CESC | TCGA-EK-A2H1-01 | exon_skip_453014 exon_skip_453018 | 71508360 | 71508440 | 71508370 | 71508370 | Frame_Shift_Del | A | - | p.K172fs |
| ESCA | TCGA-LN-A4MQ-01 | exon_skip_453014 exon_skip_453018 | 71508360 | 71508440 | 71508370 | 71508370 | Frame_Shift_Del | A | - | p.K172fs |
| HNSC | TCGA-CQ-7068-01 | exon_skip_453014 exon_skip_453018 | 71508360 | 71508440 | 71508370 | 71508370 | Frame_Shift_Del | A | - | p.E169fs |
| HNSC | TCGA-D6-6827-01 | exon_skip_453014 exon_skip_453018 | 71508360 | 71508440 | 71508370 | 71508370 | Frame_Shift_Del | A | - | p.E169fs |
| HNSC | TCGA-IQ-A61E-01 | exon_skip_453014 exon_skip_453018 | 71508360 | 71508440 | 71508370 | 71508370 | Frame_Shift_Del | A | - | p.E169fs |
| KIRC | TCGA-CJ-6033-01 | exon_skip_453014 exon_skip_453018 | 71508360 | 71508440 | 71508370 | 71508370 | Frame_Shift_Del | A | - | p.E169fs |
| KIRP | TCGA-A4-8518-01 | exon_skip_453014 exon_skip_453018 | 71508360 | 71508440 | 71508370 | 71508370 | Frame_Shift_Del | A | - | p.E169fs |
| LGG | TCGA-HT-7472-01 | exon_skip_453014 exon_skip_453018 | 71508360 | 71508440 | 71508370 | 71508370 | Frame_Shift_Del | A | - | p.E169fs |
| LGG | TCGA-HT-A74K-01 | exon_skip_453014 exon_skip_453018 | 71508360 | 71508440 | 71508370 | 71508370 | Frame_Shift_Del | A | - | p.E169fs |
| LUAD | TCGA-69-7763-01 | exon_skip_453014 exon_skip_453018 | 71508360 | 71508440 | 71508370 | 71508370 | Frame_Shift_Del | A | - | p.E169fs |
| LUAD | TCGA-86-A4JF-01 | exon_skip_453014 exon_skip_453018 | 71508360 | 71508440 | 71508370 | 71508370 | Frame_Shift_Del | A | - | p.E169fs |
| PAAD | TCGA-2J-AABU-01 | exon_skip_453014 exon_skip_453018 | 71508360 | 71508440 | 71508370 | 71508370 | Frame_Shift_Del | A | - | p.E169fs |
| PAAD | TCGA-IB-AAUO-01 | exon_skip_453014 exon_skip_453018 | 71508360 | 71508440 | 71508370 | 71508370 | Frame_Shift_Del | A | - | p.E169fs |
| PAAD | TCGA-XD-AAUI-01 | exon_skip_453014 exon_skip_453018 | 71508360 | 71508440 | 71508370 | 71508370 | Frame_Shift_Del | A | - | p.E169fs |
| PRAD | TCGA-EJ-7791-01 | exon_skip_453014 exon_skip_453018 | 71508360 | 71508440 | 71508370 | 71508370 | Frame_Shift_Del | A | - | p.E169fs |
| SKCM | TCGA-DA-A1I1-06 | exon_skip_453014 exon_skip_453018 | 71508360 | 71508440 | 71508370 | 71508370 | Frame_Shift_Del | A | - | p.E169fs |
| SKCM | TCGA-EE-A29G-06 | exon_skip_453014 exon_skip_453018 | 71508360 | 71508440 | 71508370 | 71508370 | Frame_Shift_Del | A | - | p.E169fs |
| SKCM | TCGA-XV-AAZV-01 | exon_skip_453014 exon_skip_453018 | 71508360 | 71508440 | 71508370 | 71508370 | Frame_Shift_Del | A | - | p.E169fs |
| STAD | TCGA-SW-A7EA-01 | exon_skip_453014 exon_skip_453018 | 71508360 | 71508440 | 71508370 | 71508370 | Frame_Shift_Del | A | - | p.E169fs |
| STAD | TCGA-VQ-A8P2-01 | exon_skip_453014 exon_skip_453018 | 71508360 | 71508440 | 71508370 | 71508370 | Frame_Shift_Del | A | - | p.E169fs |
| UCEC | TCGA-BG-A0M3-01 | exon_skip_453014 exon_skip_453018 | 71508360 | 71508440 | 71508370 | 71508370 | Frame_Shift_Del | A | - | p.E169fs |
| UCEC | TCGA-BG-A0YV-01 | exon_skip_453014 exon_skip_453018 | 71508360 | 71508440 | 71508370 | 71508370 | Frame_Shift_Del | A | - | p.E169fs |
| UCEC | TCGA-D1-A17D-01 | exon_skip_453014 exon_skip_453018 | 71508360 | 71508440 | 71508370 | 71508370 | Frame_Shift_Del | A | - | p.E169fs |
| UCS | TCGA-N5-A4RT-01 | exon_skip_453014 exon_skip_453018 | 71508360 | 71508440 | 71508370 | 71508370 | Frame_Shift_Del | A | - | p.E169fs |
| UCS | TCGA-N6-A4VC-01 | exon_skip_453014 exon_skip_453018 | 71508360 | 71508440 | 71508370 | 71508370 | Frame_Shift_Del | A | - | p.E169fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_453014 exon_skip_453018 | 71508360 | 71508440 | 71508387 | 71508387 | Frame_Shift_Del | A | - | p.K176fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_453014 exon_skip_453018 | 71508360 | 71508440 | 71508387 | 71508387 | Frame_Shift_Del | A | - | p.K176fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_453020 | 71546644 | 71546731 | 71546674 | 71546674 | Frame_Shift_Del | A | - | p.K204fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_453020 | 71546644 | 71546731 | 71546674 | 71546674 | Frame_Shift_Del | A | - | p.K204fs |
| STAD | TCGA-BR-A4QL-01 | exon_skip_453020 | 71546644 | 71546731 | 71546674 | 71546674 | Frame_Shift_Del | A | - | p.P202fs |
| UCEC | TCGA-A5-A0VQ-01 | exon_skip_453020 | 71546644 | 71546731 | 71546674 | 71546674 | Frame_Shift_Del | A | - | p.K203fs |
| UCEC | TCGA-AX-A060-01 | exon_skip_453020 | 71546644 | 71546731 | 71546674 | 71546674 | Frame_Shift_Del | A | - | p.K203fs |
| UCEC | TCGA-BG-A0VZ-01 | exon_skip_453020 | 71546644 | 71546731 | 71546674 | 71546674 | Frame_Shift_Del | A | - | p.K203fs |
| UCEC | TCGA-D1-A163-01 | exon_skip_453020 | 71546644 | 71546731 | 71546674 | 71546674 | Frame_Shift_Del | A | - | p.K203fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_453022 | 71566562 | 71566733 | 71566610 | 71566610 | Frame_Shift_Del | G | - | p.G280fs |
| KIRP | TCGA-5P-A9JZ-01 | exon_skip_453026 | 71567625 | 71567932 | 71567632 | 71567633 | Frame_Shift_Del | TA | - | p.323_323del |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_453026 | 71567625 | 71567932 | 71567842 | 71567842 | Frame_Shift_Del | C | - | p.G393fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_453026 | 71567625 | 71567932 | 71567876 | 71567876 | Frame_Shift_Del | C | - | p.P405fs |
| BLCA | TCGA-DK-A6AW-01 | exon_skip_453014 exon_skip_453018 | 71508360 | 71508440 | 71508369 | 71508370 | Frame_Shift_Ins | - | A | p.E169fs |
| HNSC | TCGA-CV-5970-01 | exon_skip_453014 exon_skip_453018 | 71508360 | 71508440 | 71508369 | 71508370 | Frame_Shift_Ins | - | A | p.K169fs |
| LUAD | TCGA-44-2655-01 | exon_skip_453014 exon_skip_453018 | 71508360 | 71508440 | 71508369 | 71508370 | Frame_Shift_Ins | - | A | p.K169fs |
| LUAD | TCGA-86-7701-01 | exon_skip_453014 exon_skip_453018 | 71508360 | 71508440 | 71508369 | 71508370 | Frame_Shift_Ins | - | A | p.K169fs |
| PAAD | TCGA-FB-AAQ0-01 | exon_skip_453014 exon_skip_453018 | 71508360 | 71508440 | 71508369 | 71508370 | Frame_Shift_Ins | - | A | p.K169fs |
| SKCM | TCGA-EE-A180-06 | exon_skip_453014 exon_skip_453018 | 71508360 | 71508440 | 71508369 | 71508370 | Frame_Shift_Ins | - | A | p.K169fs |
| LUAD | TCGA-69-7979-01 | exon_skip_453026 | 71567625 | 71567932 | 71567765 | 71567766 | Frame_Shift_Ins | - | T | p.G368fs |
| HNSC | TCGA-T2-A6X2-01 | exon_skip_453010 | 71501392 | 71501472 | 71501416 | 71501416 | Nonsense_Mutation | C | T | p.Q147* |
| UCEC | TCGA-B5-A11E-01 | exon_skip_453014 exon_skip_453018 | 71508360 | 71508440 | 71508408 | 71508408 | Nonsense_Mutation | G | T | p.E182* |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-T2-A6X2-01 |
| Cancer type: HNSC | |
| ESID: exon_skip_453010 | |
| Skipped exon start: 71501392 | |
| Skipped exon end: 71501472 | |
| Mutation start: 71501416 | |
| Mutation end: 71501416 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: C | |
| Mutation seq: T | |
| AAchange: p.Q147* | |
exon_skip_453010_HNSC_TCGA-T2-A6X2-01.png | |
exon_skip_59847_HNSC_TCGA-T2-A6X2-01.png | |
 | Sample: TCGA-DD-A39Y-01 |
| Cancer type: LIHC | |
| ESID: exon_skip_453010 | |
| Skipped exon start: 71501392 | |
| Skipped exon end: 71501472 | |
| Mutation start: 71501458 | |
| Mutation end: 71501458 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: A | |
| Mutation seq: - | |
| AAchange: p.K161fs | |
| Sample: TCGA-DD-A39Y-01 |
| Cancer type: LIHC | |
| ESID: exon_skip_453018 | |
| Skipped exon start: 71508360 | |
| Skipped exon end: 71508440 | |
| Mutation start: 71508387 | |
| Mutation end: 71508387 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: A | |
| Mutation seq: - | |
| AAchange: p.K176fs | |
| Sample: TCGA-DD-A39Y-01 |
| Cancer type: LIHC | |
| ESID: exon_skip_453020 | |
| Skipped exon start: 71546644 | |
| Skipped exon end: 71546731 | |
| Mutation start: 71546674 | |
| Mutation end: 71546674 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: A | |
| Mutation seq: - | |
| AAchange: p.K204fs | |
exon_skip_105023_LIHC_TCGA-DD-A39Y-01.png | |
exon_skip_101824_LIHC_TCGA-DD-A39Y-01.png | |
exon_skip_106032_LIHC_TCGA-DD-A39Y-01.png | |
exon_skip_106378_LIHC_TCGA-DD-A39Y-01.png | |
exon_skip_106523_LIHC_TCGA-DD-A39Y-01.png | |
exon_skip_106524_LIHC_TCGA-DD-A39Y-01.png | |
exon_skip_109527_LIHC_TCGA-DD-A39Y-01.png | |
exon_skip_109529_LIHC_TCGA-DD-A39Y-01.png | |
exon_skip_110000_LIHC_TCGA-DD-A39Y-01.png | |
exon_skip_11029_LIHC_TCGA-DD-A39Y-01.png | |
exon_skip_111893_LIHC_TCGA-DD-A39Y-01.png | |
exon_skip_111894_LIHC_TCGA-DD-A39Y-01.png | |
exon_skip_112042_LIHC_TCGA-DD-A39Y-01.png | |
exon_skip_112647_LIHC_TCGA-DD-A39Y-01.png | |
exon_skip_114045_LIHC_TCGA-DD-A39Y-01.png | |
exon_skip_114046_LIHC_TCGA-DD-A39Y-01.png | |
exon_skip_114565_LIHC_TCGA-DD-A39Y-01.png | |
exon_skip_11916_LIHC_TCGA-DD-A39Y-01.png | |
exon_skip_1234_LIHC_TCGA-DD-A39Y-01.png | |
exon_skip_1237_LIHC_TCGA-DD-A39Y-01.png | |
exon_skip_124639_LIHC_TCGA-DD-A39Y-01.png | |
exon_skip_124693_LIHC_TCGA-DD-A39Y-01.png | |
exon_skip_124695_LIHC_TCGA-DD-A39Y-01.png | |
exon_skip_130535_LIHC_TCGA-DD-A39Y-01.png | |
exon_skip_13071_LIHC_TCGA-DD-A39Y-01.png | |
exon_skip_131505_LIHC_TCGA-DD-A39Y-01.png | |
exon_skip_133556_LIHC_TCGA-DD-A39Y-01.png | |
exon_skip_135211_LIHC_TCGA-DD-A39Y-01.png | |
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| - 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 |
| OC316_OVARY | 71546644 | 71546731 | 71546674 | 71546674 | Frame_Shift_Del | A | - | p.K204fs |
| HCT116_LARGE_INTESTINE | 71546644 | 71546731 | 71546674 | 71546674 | Frame_Shift_Del | A | - | p.K204fs |
| KM12_LARGE_INTESTINE | 71546644 | 71546731 | 71546674 | 71546674 | Frame_Shift_Del | A | - | p.K204fs |
| HUCCT1_BILIARY_TRACT | 71442081 | 71442214 | 71442123 | 71442123 | Missense_Mutation | T | C | p.I54T |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 71442081 | 71442214 | 71442200 | 71442200 | Missense_Mutation | G | C | p.A80P |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 71442081 | 71442214 | 71442200 | 71442200 | Missense_Mutation | G | C | p.A80P |
| SUDHL8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 71501392 | 71501472 | 71501407 | 71501407 | Missense_Mutation | G | T | p.A144S |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 71508360 | 71508440 | 71508383 | 71508383 | Missense_Mutation | A | C | p.E173D |
| MCC13_SKIN | 71508360 | 71508440 | 71508423 | 71508424 | Missense_Mutation | CC | TT | p.P187L |
| MCC13_SKIN | 71508360 | 71508440 | 71508423 | 71508423 | Missense_Mutation | C | T | p.P187S |
| MCC13_SKIN | 71508360 | 71508440 | 71508424 | 71508424 | Missense_Mutation | C | T | p.P187L |
| CPCN_LUNG | 71508360 | 71508440 | 71508426 | 71508426 | Missense_Mutation | C | G | p.L188V |
| MCC13_SKIN | 71508360 | 71508440 | 71508435 | 71508435 | Missense_Mutation | G | A | p.E191K |
| BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 71546644 | 71546731 | 71546678 | 71546678 | Missense_Mutation | A | C | p.K204T |
| HCC1171_LUNG | 71546644 | 71546731 | 71546710 | 71546710 | Missense_Mutation | A | T | p.T215S |
| NCIH650_LUNG | 71566562 | 71566733 | 71566580 | 71566580 | Missense_Mutation | G | A | p.A270T |
| LU134A_LUNG | 71566562 | 71566733 | 71566604 | 71566604 | Missense_Mutation | A | T | p.T278S |
| HEC108_ENDOMETRIUM | 71566562 | 71566733 | 71566637 | 71566637 | Missense_Mutation | A | G | p.T289A |
| NCIH69_LUNG | 71566562 | 71566733 | 71566728 | 71566728 | Missense_Mutation | C | T | p.T319I |
| QIMRWIL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 71567625 | 71567932 | 71567658 | 71567658 | Missense_Mutation | C | T | p.T332I |
| MOLT3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 71567625 | 71567932 | 71567681 | 71567681 | Missense_Mutation | C | G | p.Q340E |
| MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 71567625 | 71567932 | 71567702 | 71567702 | Missense_Mutation | G | A | p.V347M |
| LC1F_LUNG | 71567625 | 71567932 | 71567706 | 71567706 | Missense_Mutation | C | A | p.P348H |
| LC1SQSF_LUNG | 71567625 | 71567932 | 71567706 | 71567706 | Missense_Mutation | C | A | p.P348H |
| LC1SQ_LUNG | 71567625 | 71567932 | 71567706 | 71567706 | Missense_Mutation | C | A | p.P348H |
| SNUC4_LARGE_INTESTINE | 71567625 | 71567932 | 71567916 | 71567916 | Missense_Mutation | A | G | p.Q418R |
| NCIH1694_LUNG | 71567625 | 71567932 | 71567918 | 71567918 | Missense_Mutation | T | G | p.W419G |
| SNU1040_LARGE_INTESTINE | 71501392 | 71501472 | 71501471 | 71501471 | Splice_Site | A | G | p.E165G |
| NCIH2073_LUNG | 71566562 | 71566733 | 71566562 | 71566562 | Splice_Site | G | T | p.G264W |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SMAP1 |
| 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_453028 | 6 | 71567624:71567932:71569031:71569119:71569902:71570005 | 71569031:71569119 | ENST00000370452.3 | GBM | rs576516 | chr6:71569090 | C/T | 4.22e-08 |
| exon_skip_453028 | 6 | 71567624:71567932:71569031:71569119:71569902:71570005 | 71569031:71569119 | ENST00000370452.3 | CESC | rs576516 | chr6:71569090 | C/T | 5.25e-08 |
| exon_skip_453028 | 6 | 71567624:71567932:71569031:71569119:71569902:71570005 | 71569031:71569119 | ENST00000370452.3 | COAD | rs576516 | chr6:71569090 | C/T | 1.30e-15 |
| exon_skip_453028 | 6 | 71567624:71567932:71569031:71569119:71569902:71570005 | 71569031:71569119 | ENST00000370452.3 | BLCA | rs576516 | chr6:71569090 | C/T | 1.44e-20 |
| exon_skip_453028 | 6 | 71567624:71567932:71569031:71569119:71569902:71570005 | 71569031:71569119 | ENST00000370452.3 | ESCA | rs576516 | chr6:71569090 | C/T | 1.93e-15 |
| exon_skip_453028 | 6 | 71567624:71567932:71569031:71569119:71569902:71570005 | 71569031:71569119 | ENST00000370452.3 | HNSC | rs576516 | chr6:71569090 | C/T | 2.75e-39 |
| exon_skip_453028 | 6 | 71567624:71567932:71569031:71569119:71569902:71570005 | 71569031:71569119 | ENST00000370452.3 | BRCA | rs576516 | chr6:71569090 | C/T | 8.75e-55 |
| exon_skip_453028 | 6 | 71567624:71567932:71569031:71569119:71569902:71570005 | 71569031:71569119 | ENST00000370452.3 | KIRP | rs576516 | chr6:71569090 | C/T | 5.80e-09 |
| exon_skip_453028 | 6 | 71567624:71567932:71569031:71569119:71569902:71570005 | 71569031:71569119 | ENST00000370452.3 | LGG | rs576516 | chr6:71569090 | C/T | 4.42e-04 |
| exon_skip_453028 | 6 | 71567624:71567932:71569031:71569119:71569902:71570005 | 71569031:71569119 | ENST00000370452.3 | LGG | rs576516 | chr6:71569090 | C/T | 7.21e-04 |
| exon_skip_453028 | 6 | 71567624:71567932:71569031:71569119:71569902:71570005 | 71569031:71569119 | ENST00000370452.3 | KIRC | rs576516 | chr6:71569090 | C/T | 1.02e-27 |
| exon_skip_453028 | 6 | 71567624:71567932:71569031:71569119:71569902:71570005 | 71569031:71569119 | ENST00000370452.3 | LUAD | rs576516 | chr6:71569090 | C/T | 1.64e-26 |
| exon_skip_453028 | 6 | 71567624:71567932:71569031:71569119:71569902:71570005 | 71569031:71569119 | ENST00000370452.3 | MESO | rs576516 | chr6:71569090 | C/T | 2.63e-05 |
| exon_skip_453028 | 6 | 71567624:71567932:71569031:71569119:71569902:71570005 | 71569031:71569119 | ENST00000370452.3 | LIHC | rs576516 | chr6:71569090 | C/T | 2.28e-13 |
| exon_skip_453028 | 6 | 71567624:71567932:71569031:71569119:71569902:71570005 | 71569031:71569119 | ENST00000370452.3 | LUSC | rs576516 | chr6:71569090 | C/T | 7.46e-30 |
| exon_skip_453028 | 6 | 71567624:71567932:71569031:71569119:71569902:71570005 | 71569031:71569119 | ENST00000370452.3 | READ | rs576516 | chr6:71569090 | C/T | 2.30e-05 |
| exon_skip_453028 | 6 | 71567624:71567932:71569031:71569119:71569902:71570005 | 71569031:71569119 | ENST00000370452.3 | PAAD | rs576516 | chr6:71569090 | C/T | 2.66e-11 |
| exon_skip_453028 | 6 | 71567624:71567932:71569031:71569119:71569902:71570005 | 71569031:71569119 | ENST00000370452.3 | PRAD | rs576516 | chr6:71569090 | C/T | 2.27e-26 |
| exon_skip_453028 | 6 | 71567624:71567932:71569031:71569119:71569902:71570005 | 71569031:71569119 | ENST00000370452.3 | SARC | rs576516 | chr6:71569090 | C/T | 1.32e-10 |
| exon_skip_453028 | 6 | 71567624:71567932:71569031:71569119:71569902:71570005 | 71569031:71569119 | ENST00000370452.3 | THYM | rs576516 | chr6:71569090 | C/T | 1.01e-06 |
| exon_skip_453028 | 6 | 71567624:71567932:71569031:71569119:71569902:71570005 | 71569031:71569119 | ENST00000370452.3 | TGCT | rs576516 | chr6:71569090 | C/T | 3.12e-05 |
| exon_skip_453028 | 6 | 71567624:71567932:71569031:71569119:71569902:71570005 | 71569031:71569119 | ENST00000370452.3 | SKCM | rs576516 | chr6:71569090 | C/T | 6.99e-09 |
| exon_skip_453028 | 6 | 71567624:71567932:71569031:71569119:71569902:71570005 | 71569031:71569119 | ENST00000370452.3 | STAD | rs576516 | chr6:71569090 | C/T | 5.29e-29 |
| exon_skip_453028 | 6 | 71567624:71567932:71569031:71569119:71569902:71570005 | 71569031:71569119 | ENST00000370452.3 | THCA | rs576516 | chr6:71569090 | C/T | 3.29e-37 |
| exon_skip_453020 | 6 | 71508359:71508440:71546643:71546731:71562242:71562367 | 71546643:71546731 | ENST00000370452.3,ENST00000316999.5,ENST00000370455.3 | ESCA | rs2273566 | chr6:71546702 | C/T | 1.11e-03 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SMAP1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SMAP1 |
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RelatedDrugs for SMAP1 |
| 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 SMAP1 |
| 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)
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