|
||||||
|
![]() | |
![]() | |
![]() | |
![]() | |
![]() | 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 SLC35B3 |
Gene summary |
| Gene information | Gene symbol | SLC35B3 | Gene ID | 51000 |
| Gene name | solute carrier family 35 member B3 | |
| Synonyms | C6orf196|CGI-19|PAPST2 | |
| Cytomap | 6p24.3 | |
| Type of gene | protein-coding | |
| Description | adenosine 3'-phospho 5'-phosphosulfate transporter 23' phosphoadenosine 5' phosphosulfate transporter 2PAPS transporter 2solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B3 | |
| Modification date | 20180523 | |
| UniProtAcc | Q9H1N7 | |
| Context | PubMed: SLC35B3 [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 SLC35B3 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 SLC35B3 |
Expression levels of gene isoforms across TCGA. |
Expression levels of gene isoforms across GTEx. |
Top |
Exon skipping events with PSIs in TCGA for SLC35B3 |
Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_456043 | 6 | 8417116:8417228:8417634:8417727:8419812:8419877 | 8417634:8417727 | ENSG00000124786.8 | ENST00000379660.4 |
| exon_skip_456049 | 6 | 8417634:8417727:8419812:8419910:8420953:8421040 | 8419812:8419910 | ENSG00000124786.8 | ENST00000379660.4 |
| exon_skip_456051 | 6 | 8419046:8419118:8419812:8419910:8420953:8421061 | 8419812:8419910 | ENSG00000124786.8 | ENST00000339306.5 |
| exon_skip_456052 | 6 | 8420953:8421061:8422702:8422857:8428169:8428291 | 8422702:8422857 | ENSG00000124786.8 | ENST00000339306.5,ENST00000379660.4 |
| exon_skip_456060 | 6 | 8430214:8430390:8434617:8434663:8435671:8435794 | 8434617:8434663 | ENSG00000124786.8 | ENST00000339306.5 |
PSI values of skipped exons in TCGA. |
Top |
Exon skipping events with PSIs in GTEx for SLC35B3 |
Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_456043 | 6 | 8417116:8417228:8417634:8417727:8419812:8419877 | 8417634:8417727 | ENSG00000124786.8 | ENST00000379660.4 |
| exon_skip_456049 | 6 | 8417634:8417727:8419812:8419910:8420953:8421040 | 8419812:8419910 | ENSG00000124786.8 | ENST00000379660.4 |
| exon_skip_456052 | 6 | 8420953:8421061:8422702:8422857:8428169:8428291 | 8422702:8422857 | ENSG00000124786.8 | ENST00000379660.4,ENST00000339306.5 |
| exon_skip_456060 | 6 | 8430214:8430390:8434617:8434663:8435671:8435794 | 8434617:8434663 | ENSG00000124786.8 | ENST00000339306.5 |
PSI values of skipped exons in GTEx. |
| * Skipped exon sequences. |
Top |
Open reading frame (ORF) annotation in the exon skipping event for SLC35B3 |
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 |
| ENST00000379660 | 8419812 | 8419910 | Frame-shift |
| ENST00000379660 | 8422702 | 8422857 | Frame-shift |
| ENST00000379660 | 8417634 | 8417727 | 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 |
| ENST00000379660 | 8419812 | 8419910 | Frame-shift |
| ENST00000379660 | 8422702 | 8422857 | Frame-shift |
| ENST00000379660 | 8417634 | 8417727 | In-frame |
Top |
Infer the effects of exon skipping event on protein functional features for SLC35B3 |
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 |
| ENST00000379660 | 2154 | 401 | 8417634 | 8417727 | 1231 | 1323 | 260 | 291 |
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 |
| ENST00000379660 | 2154 | 401 | 8417634 | 8417727 | 1231 | 1323 | 260 | 291 |
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 |
| Q9H1N7 | 260 | 291 | 154 | 401 | Alternative sequence | ID=VSP_016194;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005 |
| Q9H1N7 | 260 | 291 | 261 | 283 | Alternative sequence | ID=VSP_016195;Note=In isoform 3. VLYSYSIGFVYILLGLTCTSGLG->NITTSSYSGVFIFPNKLKIPLVL;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005 |
| Q9H1N7 | 260 | 291 | 284 | 401 | Alternative sequence | ID=VSP_016196;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005 |
| Q9H1N7 | 260 | 291 | 1 | 401 | Chain | ID=PRO_0000213379;Note=Adenosine 3'-phospho 5'-phosphosulfate transporter 2 |
| Q9H1N7 | 260 | 291 | 267 | 287 | Transmembrane | Note=Helical;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 |
| Q9H1N7 | 260 | 291 | 154 | 401 | Alternative sequence | ID=VSP_016194;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005 |
| Q9H1N7 | 260 | 291 | 261 | 283 | Alternative sequence | ID=VSP_016195;Note=In isoform 3. VLYSYSIGFVYILLGLTCTSGLG->NITTSSYSGVFIFPNKLKIPLVL;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005 |
| Q9H1N7 | 260 | 291 | 284 | 401 | Alternative sequence | ID=VSP_016196;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005 |
| Q9H1N7 | 260 | 291 | 1 | 401 | Chain | ID=PRO_0000213379;Note=Adenosine 3'-phospho 5'-phosphosulfate transporter 2 |
| Q9H1N7 | 260 | 291 | 267 | 287 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
Top |
SNVs in the skipped exons for SLC35B3 |
- 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. |
SLC35B3_SKCM_exon_skip_456052_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_456043 | 8417635 | 8417727 | 8417690 | 8417690 | Frame_Shift_Del | A | - | p.L274fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_456043 | 8417635 | 8417727 | 8417701 | 8417701 | Frame_Shift_Del | A | - | p.F269fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_456049 exon_skip_456051 | 8419813 | 8419910 | 8419862 | 8419862 | Frame_Shift_Del | T | - | p.N244fs |
| BLCA | TCGA-FD-A6TA-01 | exon_skip_456052 | 8422703 | 8422857 | 8422706 | 8422706 | Nonsense_Mutation | G | A | p.Q191* |
| SKCM | TCGA-FW-A3R5-06 | exon_skip_456052 | 8422703 | 8422857 | 8422706 | 8422706 | Nonsense_Mutation | G | A | p.Q191* |
| SKCM | TCGA-FW-A3R5-06 | exon_skip_456052 | 8422703 | 8422857 | 8422706 | 8422706 | Nonsense_Mutation | G | A | p.Q191X |
- Depth of coverage in the three exons composing exon skipping event |
- 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 |
| HCC2998_LARGE_INTESTINE | 8417635 | 8417727 | 8417645 | 8417645 | Missense_Mutation | A | C | p.F288C |
| PANC0327_PANCREAS | 8419813 | 8419910 | 8419907 | 8419907 | Missense_Mutation | A | G | p.V229A |
| KASUMI2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 8422703 | 8422857 | 8422778 | 8422778 | Missense_Mutation | G | C | p.L167V |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 8422703 | 8422857 | 8422835 | 8422835 | Missense_Mutation | T | G | p.I148L |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 8422703 | 8422857 | 8422835 | 8422835 | Missense_Mutation | T | G | p.I148L |
| MM415_SKIN | 8422703 | 8422857 | 8422842 | 8422843 | Missense_Mutation | GG | AA | p.T145I |
| SEKI_SKIN | 8417635 | 8417727 | 8417663 | 8417663 | Nonsense_Mutation | A | T | p.L282* |
| RCCFG2_KIDNEY | 8417635 | 8417727 | 8417685 | 8417685 | Nonsense_Mutation | C | A | p.G275* |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SLC35B3 |
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 SLC35B3 |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SLC35B3 |
Top |
RelatedDrugs for SLC35B3 |
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 SLC35B3 |
Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |