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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 SNAP47 |
 Gene summary |
| Gene information | Gene symbol | SNAP47 | Gene ID | 116841 |
| Gene name | synaptosome associated protein 47 | |
| Synonyms | C1orf142|ESFI5812|HEL-S-290|HEL170|SNAP-47|SVAP1 | |
| Cytomap | 1q42.13 | |
| Type of gene | protein-coding | |
| Description | synaptosomal-associated protein 47epididymis luminal protein 170epididymis secretory protein Li 290synaptosomal-associated 47 kDa proteinsynaptosomal-associated protein, 47kDasynaptosome associated protein 47kDa | |
| Modification date | 20180523 | |
| UniProtAcc | Q5SQN1 | |
| Context | PubMed: SNAP47 [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 SNAP47 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 SNAP47 |
| 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 SNAP47 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_18877 | 1 | 227916407:227916487:227919285:227919448:227946695:227947186 | 227919285:227919448 | ENSG00000143740.10 | ENST00000491439.1 |
| exon_skip_18885 | 1 | 227916407:227916487:227946695:227947186:227954659:227954784 | 227946695:227947186 | ENSG00000143740.10 | ENST00000366760.1 |
| exon_skip_18892 | 1 | 227923136:227923200:227935392:227935934:227946695:227947186 | 227935392:227935934 | ENSG00000143740.10 | ENST00000426344.1,ENST00000366759.4,ENST00000315781.5 |
| exon_skip_18894 | 1 | 227923136:227923200:227946695:227947186:227954659:227954784 | 227946695:227947186 | ENSG00000143740.10 | ENST00000418653.1 |
| exon_skip_18898 | 1 | 227946695:227947186:227954659:227954784:227968227:227968927 | 227954659:227954784 | ENSG00000143740.10 | ENST00000366760.1,ENST00000366759.4 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for SNAP47 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_18877 | 1 | 227916407:227916487:227919285:227919448:227946695:227947186 | 227919285:227919448 | ENSG00000143740.10 | ENST00000491439.1 |
| exon_skip_18885 | 1 | 227916407:227916487:227946695:227947186:227954659:227954784 | 227946695:227947186 | ENSG00000143740.10 | ENST00000366760.1 |
| exon_skip_18892 | 1 | 227923136:227923200:227935392:227935934:227946695:227947186 | 227935392:227935934 | ENSG00000143740.10 | ENST00000366759.4,ENST00000315781.5,ENST00000426344.1 |
| exon_skip_18894 | 1 | 227923136:227923200:227946695:227947186:227954659:227954784 | 227946695:227947186 | ENSG00000143740.10 | ENST00000418653.1 |
| exon_skip_18898 | 1 | 227946695:227947186:227954659:227954784:227968227:227968927 | 227954659:227954784 | ENSG00000143740.10 | ENST00000366760.1,ENST00000366759.4 |
| 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 SNAP47 |
| 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 |
| ENST00000315781 | 227935392 | 227935934 | Frame-shift |
| ENST00000366759 | 227935392 | 227935934 | Frame-shift |
| ENST00000366759 | 227954659 | 227954784 | Frame-shift |
| 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 |
| ENST00000315781 | 227935392 | 227935934 | Frame-shift |
| ENST00000366759 | 227935392 | 227935934 | Frame-shift |
| ENST00000366759 | 227954659 | 227954784 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for SNAP47 |
| 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 |
| 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 |
| 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 SNAP47 |
| - 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 |
| ESCA | TCGA-L5-A4OI-01 | exon_skip_18892 | 227935393 | 227935934 | 227935790 | 227935790 | Frame_Shift_Del | G | - | p.G164fs |
| ESCA | TCGA-L5-A4OI-01 | exon_skip_18892 | 227935393 | 227935934 | 227935790 | 227935790 | Frame_Shift_Del | G | - | p.R163fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_18892 | 227935393 | 227935934 | 227935790 | 227935790 | Frame_Shift_Del | G | - | p.R163fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_18894 exon_skip_18885 | 227946696 | 227947186 | 227946711 | 227946711 | Frame_Shift_Del | G | - | p.L216fs |
| LUAD | TCGA-55-7994-01 | exon_skip_18894 exon_skip_18885 | 227946696 | 227947186 | 227946760 | 227946760 | Frame_Shift_Del | C | - | p.P233fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_18894 exon_skip_18885 | 227946696 | 227947186 | 227946831 | 227946831 | Frame_Shift_Del | A | - | p.I256fs |
| LIHC | TCGA-BC-A3KG-01 | exon_skip_18894 exon_skip_18885 | 227946696 | 227947186 | 227946851 | 227946851 | Frame_Shift_Del | C | - | p.S263fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_18894 exon_skip_18885 | 227946696 | 227947186 | 227946992 | 227946992 | Frame_Shift_Del | A | - | p.E310fs |
| STAD | TCGA-VQ-A8P2-01 | exon_skip_18892 | 227935393 | 227935934 | 227935498 | 227935498 | Nonsense_Mutation | C | T | p.R66* |
| LUSC | TCGA-66-2766-01 | exon_skip_18894 exon_skip_18885 | 227946696 | 227947186 | 227947172 | 227947172 | Nonsense_Mutation | C | G | p.S370* |
| OV | TCGA-13-1488-01 | exon_skip_18894 exon_skip_18885 | 227946696 | 227947186 | 227947172 | 227947172 | Nonsense_Mutation | C | G | p.S370* |
| SKCM | TCGA-EE-A3AG-06 | exon_skip_18894 exon_skip_18885 | 227946696 | 227947186 | 227947188 | 227947188 | Splice_Site | T | C | . |
| - 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 |
| SNU1079_BILIARY_TRACT | 227946696 | 227947186 | 227946738 | 227946739 | Frame_Shift_Del | CT | - | p.SS225fs |
| CW2_LARGE_INTESTINE | 227946696 | 227947186 | 227947151 | 227947151 | Frame_Shift_Del | C | - | p.S363fs |
| BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 227935393 | 227935934 | 227935445 | 227935445 | Missense_Mutation | G | T | p.R48M |
| EFO27_OVARY | 227935393 | 227935934 | 227935499 | 227935499 | Missense_Mutation | G | A | p.R66Q |
| A375_SKIN | 227935393 | 227935934 | 227935583 | 227935583 | Missense_Mutation | C | T | p.P94L |
| KPNRTBM1_AUTONOMIC_GANGLIA | 227935393 | 227935934 | 227935610 | 227935610 | Missense_Mutation | A | G | p.K103R |
| HUH7_LIVER | 227935393 | 227935934 | 227935610 | 227935610 | Missense_Mutation | A | G | p.K103R |
| RCHACV_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 227935393 | 227935934 | 227935720 | 227935720 | Missense_Mutation | G | A | p.E140K |
| CCK81_LARGE_INTESTINE | 227935393 | 227935934 | 227935771 | 227935771 | Missense_Mutation | G | A | p.A157T |
| SNUC5_LARGE_INTESTINE | 227935393 | 227935934 | 227935771 | 227935771 | Missense_Mutation | G | A | p.A157T |
| MMACSF_SKIN | 227935393 | 227935934 | 227935786 | 227935786 | Missense_Mutation | A | G | p.T162A |
| HAL01_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 227935393 | 227935934 | 227935804 | 227935804 | Missense_Mutation | A | G | p.T168A |
| OVK18_OVARY | 227935393 | 227935934 | 227935861 | 227935861 | Missense_Mutation | C | A | p.H187N |
| MFE296_ENDOMETRIUM | 227946696 | 227947186 | 227946730 | 227946730 | Missense_Mutation | C | T | p.P223S |
| VMRCRCZ_KIDNEY | 227946696 | 227947186 | 227946761 | 227946761 | Missense_Mutation | C | T | p.P233L |
| MDAMB231_BREAST | 227946696 | 227947186 | 227946792 | 227946792 | Missense_Mutation | G | A | p.M243I |
| HS698T_FIBROBLAST | 227946696 | 227947186 | 227946841 | 227946841 | Missense_Mutation | G | A | p.A260T |
| HS698T_FIBROBLAST | 227946696 | 227947186 | 227946842 | 227946842 | Missense_Mutation | C | T | p.A260V |
| SNU1214_UPPER_AERODIGESTIVE_TRACT | 227946696 | 227947186 | 227946865 | 227946865 | Missense_Mutation | T | C | p.S268P |
| HLF_LIVER | 227946696 | 227947186 | 227946865 | 227946865 | Missense_Mutation | T | C | p.S268P |
| MM127_SKIN | 227946696 | 227947186 | 227946871 | 227946871 | Missense_Mutation | G | A | p.V270I |
| EBC1_LUNG | 227946696 | 227947186 | 227946898 | 227946898 | Missense_Mutation | G | T | p.V279L |
| A498_KIDNEY | 227946696 | 227947186 | 227946910 | 227946910 | Missense_Mutation | G | C | p.E283Q |
| SNU283_LARGE_INTESTINE | 227946696 | 227947186 | 227946967 | 227946967 | Missense_Mutation | G | A | p.D302N |
| COLO320_LARGE_INTESTINE | 227946696 | 227947186 | 227946991 | 227946991 | Missense_Mutation | G | A | p.E310K |
| HEC1A_ENDOMETRIUM | 227946696 | 227947186 | 227947004 | 227947004 | Missense_Mutation | G | A | p.R314H |
| HEC1_ENDOMETRIUM | 227946696 | 227947186 | 227947004 | 227947004 | Missense_Mutation | G | A | p.R314H |
| SNU1040_LARGE_INTESTINE | 227946696 | 227947186 | 227947004 | 227947004 | Missense_Mutation | G | A | p.R314H |
| HEC1B_ENDOMETRIUM | 227946696 | 227947186 | 227947004 | 227947004 | Missense_Mutation | G | A | p.R314H |
| HCC2279_LUNG | 227946696 | 227947186 | 227947105 | 227947105 | Missense_Mutation | G | A | p.E348K |
| KM12_LARGE_INTESTINE | 227946696 | 227947186 | 227947133 | 227947133 | Missense_Mutation | G | A | p.R357K |
| KNS42_CENTRAL_NERVOUS_SYSTEM | 227946696 | 227947186 | 227947136 | 227947136 | Missense_Mutation | G | A | p.S358N |
| SKM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 227946696 | 227947186 | 227947136 | 227947136 | Missense_Mutation | G | A | p.S358N |
| NCIH187_LUNG | 227946696 | 227947186 | 227947148 | 227947148 | Missense_Mutation | C | G | p.S362C |
| CAL27_UPPER_AERODIGESTIVE_TRACT | 227954660 | 227954784 | 227954694 | 227954694 | Missense_Mutation | G | T | p.E386D |
| SQ1_LUNG | 227935393 | 227935934 | 227935651 | 227935651 | Nonsense_Mutation | G | T | p.E117* |
| NCIH650_LUNG | 227946696 | 227947186 | 227946751 | 227946751 | Nonsense_Mutation | A | T | p.K230* |
| NCIH513_PLEURA | 227946696 | 227947186 | 227946778 | 227946778 | Nonsense_Mutation | G | T | p.E239* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SNAP47 |
| 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_18892 | 1 | 227923136:227923200:227935392:227935934:227946695:227947186 | 227935392:227935934 | ENST00000426344.1,ENST00000366759.4,ENST00000315781.5 | GBM | rs2236359 | chr1:227935444 | A/G | 8.37e-06 |
| exon_skip_18892 | 1 | 227923136:227923200:227935392:227935934:227946695:227947186 | 227935392:227935934 | ENST00000426344.1,ENST00000366759.4,ENST00000315781.5 | GBM | rs2236359 | chr1:227935444 | A/G | 8.37e-06 |
| exon_skip_18892 | 1 | 227923136:227923200:227935392:227935934:227946695:227947186 | 227935392:227935934 | ENST00000426344.1,ENST00000366759.4,ENST00000315781.5 | COAD | rs2236359 | chr1:227935444 | A/G | 4.49e-08 |
| exon_skip_18892 | 1 | 227923136:227923200:227935392:227935934:227946695:227947186 | 227935392:227935934 | ENST00000426344.1,ENST00000366759.4,ENST00000315781.5 | COAD | rs2236359 | chr1:227935444 | A/G | 4.50e-08 |
| exon_skip_18892 | 1 | 227923136:227923200:227935392:227935934:227946695:227947186 | 227935392:227935934 | ENST00000426344.1,ENST00000366759.4,ENST00000315781.5 | BLCA | rs2236359 | chr1:227935444 | A/G | 3.68e-10 |
| exon_skip_18892 | 1 | 227923136:227923200:227935392:227935934:227946695:227947186 | 227935392:227935934 | ENST00000426344.1,ENST00000366759.4,ENST00000315781.5 | BLCA | rs2236359 | chr1:227935444 | A/G | 3.69e-10 |
| exon_skip_18892 | 1 | 227923136:227923200:227935392:227935934:227946695:227947186 | 227935392:227935934 | ENST00000426344.1,ENST00000366759.4,ENST00000315781.5 | ESCA | rs2236359 | chr1:227935444 | A/G | 1.66e-05 |
| exon_skip_18892 | 1 | 227923136:227923200:227935392:227935934:227946695:227947186 | 227935392:227935934 | ENST00000426344.1,ENST00000366759.4,ENST00000315781.5 | ESCA | rs2236359 | chr1:227935444 | A/G | 1.66e-05 |
| exon_skip_18892 | 1 | 227923136:227923200:227935392:227935934:227946695:227947186 | 227935392:227935934 | ENST00000426344.1,ENST00000366759.4,ENST00000315781.5 | HNSC | rs2236359 | chr1:227935444 | A/G | 2.00e-19 |
| exon_skip_18892 | 1 | 227923136:227923200:227935392:227935934:227946695:227947186 | 227935392:227935934 | ENST00000426344.1,ENST00000366759.4,ENST00000315781.5 | HNSC | rs2236359 | chr1:227935444 | A/G | 2.01e-19 |
| exon_skip_18892 | 1 | 227923136:227923200:227935392:227935934:227946695:227947186 | 227935392:227935934 | ENST00000426344.1,ENST00000366759.4,ENST00000315781.5 | BRCA | rs2236359 | chr1:227935444 | A/G | 3.79e-27 |
| exon_skip_18892 | 1 | 227923136:227923200:227935392:227935934:227946695:227947186 | 227935392:227935934 | ENST00000426344.1,ENST00000366759.4,ENST00000315781.5 | BRCA | rs2236359 | chr1:227935444 | A/G | 3.83e-27 |
| exon_skip_18892 | 1 | 227923136:227923200:227935392:227935934:227946695:227947186 | 227935392:227935934 | ENST00000426344.1,ENST00000366759.4,ENST00000315781.5 | BRCA | rs2236359 | chr1:227935444 | A/G | 9.91e-05 |
| exon_skip_18892 | 1 | 227923136:227923200:227935392:227935934:227946695:227947186 | 227935392:227935934 | ENST00000426344.1,ENST00000366759.4,ENST00000315781.5 | BRCA | rs2236359 | chr1:227935444 | A/G | 9.91e-05 |
| exon_skip_18892 | 1 | 227923136:227923200:227935392:227935934:227946695:227947186 | 227935392:227935934 | ENST00000426344.1,ENST00000366759.4,ENST00000315781.5 | LGG | rs2236359 | chr1:227935444 | A/G | 8.39e-13 |
| exon_skip_18892 | 1 | 227923136:227923200:227935392:227935934:227946695:227947186 | 227935392:227935934 | ENST00000426344.1,ENST00000366759.4,ENST00000315781.5 | LGG | rs2236359 | chr1:227935444 | A/G | 8.41e-13 |
| exon_skip_18892 | 1 | 227923136:227923200:227935392:227935934:227946695:227947186 | 227935392:227935934 | ENST00000426344.1,ENST00000366759.4,ENST00000315781.5 | KIRC | rs2236359 | chr1:227935444 | A/G | 6.22e-18 |
| exon_skip_18892 | 1 | 227923136:227923200:227935392:227935934:227946695:227947186 | 227935392:227935934 | ENST00000426344.1,ENST00000366759.4,ENST00000315781.5 | KIRC | rs2236359 | chr1:227935444 | A/G | 6.25e-18 |
| exon_skip_18892 | 1 | 227923136:227923200:227935392:227935934:227946695:227947186 | 227935392:227935934 | ENST00000426344.1,ENST00000366759.4,ENST00000315781.5 | LUAD | rs2236359 | chr1:227935444 | A/G | 2.33e-08 |
| exon_skip_18892 | 1 | 227923136:227923200:227935392:227935934:227946695:227947186 | 227935392:227935934 | ENST00000426344.1,ENST00000366759.4,ENST00000315781.5 | LUAD | rs2236359 | chr1:227935444 | A/G | 2.34e-08 |
| exon_skip_18892 | 1 | 227923136:227923200:227935392:227935934:227946695:227947186 | 227935392:227935934 | ENST00000426344.1,ENST00000366759.4,ENST00000315781.5 | LIHC | rs2236359 | chr1:227935444 | A/G | 1.11e-13 |
| exon_skip_18892 | 1 | 227923136:227923200:227935392:227935934:227946695:227947186 | 227935392:227935934 | ENST00000426344.1,ENST00000366759.4,ENST00000315781.5 | LIHC | rs2236359 | chr1:227935444 | A/G | 1.11e-13 |
| exon_skip_18892 | 1 | 227923136:227923200:227935392:227935934:227946695:227947186 | 227935392:227935934 | ENST00000426344.1,ENST00000366759.4,ENST00000315781.5 | LIHC | rs2236358 | chr1:227935762 | G/A | 4.40e-04 |
| exon_skip_18892 | 1 | 227923136:227923200:227935392:227935934:227946695:227947186 | 227935392:227935934 | ENST00000426344.1,ENST00000366759.4,ENST00000315781.5 | LIHC | rs2236358 | chr1:227935762 | G/A | 4.40e-04 |
| exon_skip_18892 | 1 | 227923136:227923200:227935392:227935934:227946695:227947186 | 227935392:227935934 | ENST00000426344.1,ENST00000366759.4,ENST00000315781.5 | LUSC | rs2236359 | chr1:227935444 | A/G | 4.60e-11 |
| exon_skip_18892 | 1 | 227923136:227923200:227935392:227935934:227946695:227947186 | 227935392:227935934 | ENST00000426344.1,ENST00000366759.4,ENST00000315781.5 | LUSC | rs2236359 | chr1:227935444 | A/G | 4.60e-11 |
| exon_skip_18892 | 1 | 227923136:227923200:227935392:227935934:227946695:227947186 | 227935392:227935934 | ENST00000426344.1,ENST00000366759.4,ENST00000315781.5 | OV | rs2236359 | chr1:227935444 | A/G | 1.40e-08 |
| exon_skip_18892 | 1 | 227923136:227923200:227935392:227935934:227946695:227947186 | 227935392:227935934 | ENST00000426344.1,ENST00000366759.4,ENST00000315781.5 | OV | rs2236359 | chr1:227935444 | A/G | 1.40e-08 |
| exon_skip_18892 | 1 | 227923136:227923200:227935392:227935934:227946695:227947186 | 227935392:227935934 | ENST00000426344.1,ENST00000366759.4,ENST00000315781.5 | READ | rs2236359 | chr1:227935444 | A/G | 2.19e-04 |
| exon_skip_18892 | 1 | 227923136:227923200:227935392:227935934:227946695:227947186 | 227935392:227935934 | ENST00000426344.1,ENST00000366759.4,ENST00000315781.5 | READ | rs2236359 | chr1:227935444 | A/G | 2.19e-04 |
| exon_skip_18892 | 1 | 227923136:227923200:227935392:227935934:227946695:227947186 | 227935392:227935934 | ENST00000426344.1,ENST00000366759.4,ENST00000315781.5 | PRAD | rs2236359 | chr1:227935444 | A/G | 6.44e-15 |
| exon_skip_18892 | 1 | 227923136:227923200:227935392:227935934:227946695:227947186 | 227935392:227935934 | ENST00000426344.1,ENST00000366759.4,ENST00000315781.5 | PRAD | rs2236359 | chr1:227935444 | A/G | 6.44e-15 |
| exon_skip_18892 | 1 | 227923136:227923200:227935392:227935934:227946695:227947186 | 227935392:227935934 | ENST00000426344.1,ENST00000366759.4,ENST00000315781.5 | SARC | rs2236359 | chr1:227935444 | A/G | 3.19e-05 |
| exon_skip_18892 | 1 | 227923136:227923200:227935392:227935934:227946695:227947186 | 227935392:227935934 | ENST00000426344.1,ENST00000366759.4,ENST00000315781.5 | SARC | rs2236359 | chr1:227935444 | A/G | 3.21e-05 |
| exon_skip_18892 | 1 | 227923136:227923200:227935392:227935934:227946695:227947186 | 227935392:227935934 | ENST00000426344.1,ENST00000366759.4,ENST00000315781.5 | THYM | rs2236359 | chr1:227935444 | A/G | 2.25e-05 |
| exon_skip_18892 | 1 | 227923136:227923200:227935392:227935934:227946695:227947186 | 227935392:227935934 | ENST00000426344.1,ENST00000366759.4,ENST00000315781.5 | THYM | rs2236359 | chr1:227935444 | A/G | 2.25e-05 |
| exon_skip_18892 | 1 | 227923136:227923200:227935392:227935934:227946695:227947186 | 227935392:227935934 | ENST00000426344.1,ENST00000366759.4,ENST00000315781.5 | TGCT | rs2236359 | chr1:227935444 | A/G | 3.28e-07 |
| exon_skip_18892 | 1 | 227923136:227923200:227935392:227935934:227946695:227947186 | 227935392:227935934 | ENST00000426344.1,ENST00000366759.4,ENST00000315781.5 | TGCT | rs2236359 | chr1:227935444 | A/G | 3.28e-07 |
| exon_skip_18892 | 1 | 227923136:227923200:227935392:227935934:227946695:227947186 | 227935392:227935934 | ENST00000426344.1,ENST00000366759.4,ENST00000315781.5 | SKCM | rs2236359 | chr1:227935444 | A/G | 4.39e-05 |
| exon_skip_18892 | 1 | 227923136:227923200:227935392:227935934:227946695:227947186 | 227935392:227935934 | ENST00000426344.1,ENST00000366759.4,ENST00000315781.5 | SKCM | rs2236359 | chr1:227935444 | A/G | 4.39e-05 |
| exon_skip_18892 | 1 | 227923136:227923200:227935392:227935934:227946695:227947186 | 227935392:227935934 | ENST00000426344.1,ENST00000366759.4,ENST00000315781.5 | STAD | rs2236359 | chr1:227935444 | A/G | 2.34e-06 |
| exon_skip_18892 | 1 | 227923136:227923200:227935392:227935934:227946695:227947186 | 227935392:227935934 | ENST00000426344.1,ENST00000366759.4,ENST00000315781.5 | STAD | rs2236359 | chr1:227935444 | A/G | 2.34e-06 |
| exon_skip_18892 | 1 | 227923136:227923200:227935392:227935934:227946695:227947186 | 227935392:227935934 | ENST00000426344.1,ENST00000366759.4,ENST00000315781.5 | THCA | rs2236359 | chr1:227935444 | A/G | 8.50e-12 |
| exon_skip_18892 | 1 | 227923136:227923200:227935392:227935934:227946695:227947186 | 227935392:227935934 | ENST00000426344.1,ENST00000366759.4,ENST00000315781.5 | THCA | rs2236359 | chr1:227935444 | A/G | 8.55e-12 |
| exon_skip_18892 | 1 | 227923136:227923200:227935392:227935934:227946695:227947186 | 227935392:227935934 | ENST00000426344.1,ENST00000366759.4,ENST00000315781.5 | THCA | rs2236359 | chr1:227935444 | A/G | 1.82e-03 |
| exon_skip_18892 | 1 | 227923136:227923200:227935392:227935934:227946695:227947186 | 227935392:227935934 | ENST00000426344.1,ENST00000366759.4,ENST00000315781.5 | THCA | rs2236359 | chr1:227935444 | A/G | 1.82e-03 |
| exon_skip_18892 | 1 | 227923136:227923200:227935392:227935934:227946695:227947186 | 227935392:227935934 | ENST00000426344.1,ENST00000366759.4,ENST00000315781.5 | UVM | rs2236359 | chr1:227935444 | A/G | 1.99e-04 |
| exon_skip_18892 | 1 | 227923136:227923200:227935392:227935934:227946695:227947186 | 227935392:227935934 | ENST00000426344.1,ENST00000366759.4,ENST00000315781.5 | UVM | rs2236359 | chr1:227935444 | A/G | 1.99e-04 |
| exon_skip_18892 | 1 | 227923136:227923200:227935392:227935934:227946695:227947186 | 227935392:227935934 | ENST00000426344.1,ENST00000366759.4,ENST00000315781.5 | UCEC | rs2236359 | chr1:227935444 | A/G | 5.28e-06 |
| exon_skip_18892 | 1 | 227923136:227923200:227935392:227935934:227946695:227947186 | 227935392:227935934 | ENST00000426344.1,ENST00000366759.4,ENST00000315781.5 | UCEC | rs2236359 | chr1:227935444 | A/G | 5.28e-06 |
| exon_skip_18898 | 1 | 227946695:227947186:227954659:227954784:227968227:227968927 | 227954659:227954784 | ENST00000366760.1,ENST00000366759.4 | BLCA | rs17851681 | chr1:227954677 | C/T | 1.88e-03 |
| exon_skip_18898 | 1 | 227946695:227947186:227954659:227954784:227968227:227968927 | 227954659:227954784 | ENST00000366760.1,ENST00000366759.4 | BLCA | rs17851681 | chr1:227954677 | C/T | 1.89e-03 |
| exon_skip_18898 | 1 | 227946695:227947186:227954659:227954784:227968227:227968927 | 227954659:227954784 | ENST00000366760.1,ENST00000366759.4 | HNSC | rs17851681 | chr1:227954677 | C/T | 3.37e-05 |
| exon_skip_18898 | 1 | 227946695:227947186:227954659:227954784:227968227:227968927 | 227954659:227954784 | ENST00000366760.1,ENST00000366759.4 | HNSC | rs17851681 | chr1:227954677 | C/T | 3.38e-05 |
| exon_skip_18898 | 1 | 227946695:227947186:227954659:227954784:227968227:227968927 | 227954659:227954784 | ENST00000366760.1,ENST00000366759.4 | KIRP | rs17851681 | chr1:227954677 | C/T | 1.36e-03 |
| exon_skip_18898 | 1 | 227946695:227947186:227954659:227954784:227968227:227968927 | 227954659:227954784 | ENST00000366760.1,ENST00000366759.4 | LUSC | rs17851681 | chr1:227954677 | C/T | 9.05e-05 |
| exon_skip_18898 | 1 | 227946695:227947186:227954659:227954784:227968227:227968927 | 227954659:227954784 | ENST00000366760.1,ENST00000366759.4 | LUSC | rs17851681 | chr1:227954677 | C/T | 9.05e-05 |
| exon_skip_18898 | 1 | 227946695:227947186:227954659:227954784:227968227:227968927 | 227954659:227954784 | ENST00000366760.1,ENST00000366759.4 | STAD | rs17851681 | chr1:227954677 | C/T | 6.03e-05 |
| exon_skip_18898 | 1 | 227946695:227947186:227954659:227954784:227968227:227968927 | 227954659:227954784 | ENST00000366760.1,ENST00000366759.4 | STAD | rs17851681 | chr1:227954677 | C/T | 6.04e-05 |
| exon_skip_18898 | 1 | 227946695:227947186:227954659:227954784:227968227:227968927 | 227954659:227954784 | ENST00000366760.1,ENST00000366759.4 | THCA | rs17851681 | chr1:227954677 | C/T | 2.44e-03 |
| exon_skip_18898 | 1 | 227946695:227947186:227954659:227954784:227968227:227968927 | 227954659:227954784 | ENST00000366760.1,ENST00000366759.4 | THCA | rs17851681 | chr1:227954677 | C/T | 2.46e-03 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SNAP47 |
 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SNAP47 |
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RelatedDrugs for SNAP47 |
| 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 SNAP47 |
| 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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