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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 ST6GALNAC1 |
 Gene summary |
| Gene information | Gene symbol | ST6GALNAC1 | Gene ID | 55808 |
| Gene name | ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 1 | |
| Synonyms | HSY11339|SIAT7A|ST6GalNAcI|STYI | |
| Cytomap | 17q25.1 | |
| Type of gene | protein-coding | |
| Description | alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1GalNAc alpha-2, 6-sialyltransferase I, long formSIAT7-AST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1ST6 GalNAc alpha-2,6-sialylt | |
| Modification date | 20180523 | |
| UniProtAcc | Q9NSC7 | |
| Context | PubMed: ST6GALNAC1 [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 ST6GALNAC1 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 ST6GALNAC1 |
| 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 ST6GALNAC1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_293809 | 17 | 74621931:74622000:74622087:74622177:74622370:74622474 | 74622087:74622177 | ENSG00000070526.10 | ENST00000592042.1,ENST00000156626.7 |
| exon_skip_293810 | 17 | 74621931:74622000:74622087:74622177:74622732:74622871 | 74622087:74622177 | ENSG00000070526.10 | ENST00000359088.5 |
| exon_skip_293812 | 17 | 74621931:74622000:74622132:74622177:74622370:74622474 | 74622132:74622177 | ENSG00000070526.10 | ENST00000590784.1 |
| exon_skip_293816 | 17 | 74622132:74622177:74622370:74622474:74622732:74622871 | 74622370:74622474 | ENSG00000070526.10 | ENST00000592042.1,ENST00000156626.7,ENST00000590784.1 |
| exon_skip_293817 | 17 | 74622370:74622474:74622732:74622871:74623148:74623320 | 74622732:74622871 | ENSG00000070526.10 | ENST00000592042.1,ENST00000156626.7,ENST00000590784.1 |
| exon_skip_293818 | 17 | 74623496:74623665:74625093:74625793:74639589:74639742 | 74625093:74625793 | ENSG00000070526.10 | ENST00000156626.7,ENST00000590878.1,ENST00000359088.5 |
| exon_skip_293823 | 17 | 74625476:74625793:74637889:74637986:74639589:74639742 | 74637889:74637986 | ENSG00000070526.10 | ENST00000589813.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for ST6GALNAC1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_293809 | 17 | 74621931:74622000:74622087:74622177:74622370:74622474 | 74622087:74622177 | ENSG00000070526.10 | ENST00000592042.1,ENST00000156626.7 |
| exon_skip_293810 | 17 | 74621931:74622000:74622087:74622177:74622732:74622871 | 74622087:74622177 | ENSG00000070526.10 | ENST00000359088.5 |
| exon_skip_293812 | 17 | 74621931:74622000:74622132:74622177:74622370:74622474 | 74622132:74622177 | ENSG00000070526.10 | ENST00000590784.1 |
| exon_skip_293816 | 17 | 74622132:74622177:74622370:74622474:74622732:74622871 | 74622370:74622474 | ENSG00000070526.10 | ENST00000592042.1,ENST00000156626.7,ENST00000590784.1 |
| exon_skip_293817 | 17 | 74622370:74622474:74622732:74622871:74623148:74623320 | 74622732:74622871 | ENSG00000070526.10 | ENST00000592042.1,ENST00000156626.7,ENST00000590784.1 |
| exon_skip_293823 | 17 | 74625476:74625793:74637889:74637986:74639589:74639742 | 74637889:74637986 | ENSG00000070526.10 | ENST00000589813.1 |
| 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 ST6GALNAC1 |
| 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 |
| ENST00000156626 | 74622370 | 74622474 | Frame-shift |
| ENST00000156626 | 74622732 | 74622871 | Frame-shift |
| ENST00000156626 | 74625093 | 74625793 | Frame-shift |
| ENST00000156626 | 74622087 | 74622177 | 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 |
| ENST00000156626 | 74622370 | 74622474 | Frame-shift |
| ENST00000156626 | 74622732 | 74622871 | Frame-shift |
| ENST00000156626 | 74622087 | 74622177 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ST6GALNAC1 |
| 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 |
| ENST00000156626 | 2587 | 600 | 74622087 | 74622177 | 1616 | 1705 | 472 | 501 |
| 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 |
| ENST00000156626 | 2587 | 600 | 74622087 | 74622177 | 1616 | 1705 | 472 | 501 |
| 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 |
| Q9NSC7 | 472 | 501 | 1 | 600 | Chain | ID=PRO_0000149269;Note=Alpha-N-acetylgalactosaminide alpha-2%2C6-sialyltransferase 1 |
| Q9NSC7 | 472 | 501 | 365 | 533 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q9NSC7 | 472 | 501 | 36 | 600 | Topological domain | Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| 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 |
| Q9NSC7 | 472 | 501 | 1 | 600 | Chain | ID=PRO_0000149269;Note=Alpha-N-acetylgalactosaminide alpha-2%2C6-sialyltransferase 1 |
| Q9NSC7 | 472 | 501 | 365 | 533 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q9NSC7 | 472 | 501 | 36 | 600 | Topological domain | Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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SNVs in the skipped exons for ST6GALNAC1 |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
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| - Differential PSIs between mutated versus non-mutated samples. |
| - Non-synonymous mutations located in the skipped exons in TCGA. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_293816 | 74622371 | 74622474 | 74622386 | 74622386 | Frame_Shift_Del | T | - | p.N467fs |
| LIHC | TCGA-DD-A3A1-01 | exon_skip_293817 | 74622733 | 74622871 | 74622850 | 74622850 | Frame_Shift_Del | T | - | p.K398fs |
| STAD | TCGA-HF-7132-01 | exon_skip_293818 | 74625094 | 74625793 | 74625215 | 74625215 | Frame_Shift_Del | G | - | p.P237fs |
| LIHC | TCGA-DD-A3A1-01 | exon_skip_293818 | 74625094 | 74625793 | 74625334 | 74625334 | Frame_Shift_Del | G | - | p.P197fs |
| BLCA | TCGA-GV-A3JV-01 | exon_skip_293818 | 74625094 | 74625793 | 74625715 | 74625716 | Frame_Shift_Del | TG | - | p.A70fs |
| THYM | TCGA-ZB-A96E-01 | exon_skip_293809 exon_skip_293810 | 74622088 | 74622177 | 74622104 | 74622104 | Nonsense_Mutation | G | A | p.R497X |
| BLCA | TCGA-DK-AA6R-01 | exon_skip_293818 | 74625094 | 74625793 | 74625231 | 74625231 | Nonsense_Mutation | G | A | p.Q232* |
| - 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 |
| SQ1_LUNG | 74625094 | 74625793 | 74625732 | 74625732 | Frame_Shift_Del | G | - | p.Q65fs |
| MFM223_BREAST | 74625094 | 74625793 | 74625658 | 74625659 | Frame_Shift_Ins | - | TG | p.Q89fs |
| GT3TKB_STOMACH | 74622088 | 74622177 | 74622148 | 74622148 | Missense_Mutation | G | T | p.A482D |
| GT3TKB_STOMACH | 74622133 | 74622177 | 74622148 | 74622148 | Missense_Mutation | G | T | p.A482D |
| CHP126_AUTONOMIC_GANGLIA | 74622088 | 74622177 | 74622154 | 74622154 | Missense_Mutation | C | A | p.R480L |
| CHP126_AUTONOMIC_GANGLIA | 74622133 | 74622177 | 74622154 | 74622154 | Missense_Mutation | C | A | p.R480L |
| MDAPCA2B_PROSTATE | 74622088 | 74622177 | 74622155 | 74622155 | Missense_Mutation | G | A | p.R480W |
| MDAPCA2B_PROSTATE | 74622133 | 74622177 | 74622155 | 74622155 | Missense_Mutation | G | A | p.R480W |
| CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 74622733 | 74622871 | 74622762 | 74622762 | Missense_Mutation | G | A | p.R428W |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 74622733 | 74622871 | 74622818 | 74622818 | Missense_Mutation | G | A | p.S409F |
| SNU626_CENTRAL_NERVOUS_SYSTEM | 74622733 | 74622871 | 74622846 | 74622846 | Missense_Mutation | A | G | p.Y400H |
| MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 74622733 | 74622871 | 74622861 | 74622861 | Missense_Mutation | C | T | p.A395T |
| IPC298_SKIN | 74625094 | 74625793 | 74625102 | 74625102 | Missense_Mutation | G | A | p.L275F |
| TUHR10TKB_KIDNEY | 74625094 | 74625793 | 74625168 | 74625168 | Missense_Mutation | C | A | p.A253S |
| MSTO211H_PLEURA | 74625094 | 74625793 | 74625178 | 74625178 | Missense_Mutation | T | A | p.Q249H |
| HEC6_ENDOMETRIUM | 74625094 | 74625793 | 74625233 | 74625233 | Missense_Mutation | G | T | p.P231H |
| HEC6_ENDOMETRIUM | 74625094 | 74625793 | 74625281 | 74625281 | Missense_Mutation | C | T | p.R215K |
| JMSU1_URINARY_TRACT | 74625094 | 74625793 | 74625454 | 74625454 | Missense_Mutation | C | G | p.K157N |
| HCT116_LARGE_INTESTINE | 74625094 | 74625793 | 74625476 | 74625476 | Missense_Mutation | C | T | p.R150K |
| SKMEL2_SKIN | 74625094 | 74625793 | 74625557 | 74625557 | Missense_Mutation | G | A | p.A123V |
| M980513_SKIN | 74625094 | 74625793 | 74625588 | 74625588 | Missense_Mutation | C | T | p.D113N |
| REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 74625094 | 74625793 | 74625599 | 74625599 | Missense_Mutation | G | A | p.P109L |
| LXF289_LUNG | 74622088 | 74622177 | 74622104 | 74622104 | Nonsense_Mutation | G | A | p.R497* |
| HCC2450_LUNG | 74625094 | 74625793 | 74625681 | 74625681 | Nonsense_Mutation | C | A | p.E82* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ST6GALNAC1 |
| 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 ST6GALNAC1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ST6GALNAC1 |
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RelatedDrugs for ST6GALNAC1 |
| 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 ST6GALNAC1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| ST6GALNAC1 | C0033975 | Psychotic Disorders | 1 | PSYGENET |
| ST6GALNAC1 | C0036341 | Schizophrenia | 1 | PSYGENET |
| ST6GALNAC1 | C0349204 | Nonorganic psychosis | 1 | PSYGENET |
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