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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 SLC4A1AP |
 Gene summary |
| Gene information | Gene symbol | SLC4A1AP | Gene ID | 22950 |
| Gene name | solute carrier family 4 member 1 adaptor protein | |
| Synonyms | HLC3 | |
| Cytomap | 2p23.3 | |
| Type of gene | protein-coding | |
| Description | kanadaptinHLC-3human lung cancer oncogene 3 proteinkidney anion exchanger adapter proteinkidney anion exchanger adaptor proteinlung cancer oncogene 3solute carrier family 4 (anion exchanger), member 1, adapter proteinsolute carrier family 4 (anion | |
| Modification date | 20180523 | |
| UniProtAcc | Q9BWU0 | |
| Context | PubMed: SLC4A1AP [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 SLC4A1AP 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 SLC4A1AP |
| 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 SLC4A1AP |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_324247 | 2 | 27887333:27887444:27887966:27888162:27890134:27890257 | 27887966:27888162 | ENSG00000163798.9 | ENST00000427424.1 |
| exon_skip_324248 | 2 | 27890134:27890257:27891503:27891617:27891709:27891765 | 27891503:27891617 | ENSG00000163798.9 | ENST00000427424.1 |
| exon_skip_324249 | 2 | 27900604:27900791:27905114:27905226:27907903:27908144 | 27905114:27905226 | ENSG00000163798.9 | ENST00000326019.6 |
| exon_skip_324251 | 2 | 27907903:27908144:27910800:27910887:27911566:27911634 | 27910800:27910887 | ENSG00000163798.9 | ENST00000326019.6 |
| exon_skip_324259 | 2 | 27910800:27910887:27911566:27911634:27916551:27916621 | 27911566:27911634 | ENSG00000163798.9 | ENST00000326019.6 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for SLC4A1AP |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_324247 | 2 | 27887333:27887444:27887966:27888162:27890134:27890257 | 27887966:27888162 | ENSG00000163798.9 | ENST00000427424.1 |
| exon_skip_324248 | 2 | 27890134:27890257:27891503:27891617:27891709:27891765 | 27891503:27891617 | ENSG00000163798.9 | ENST00000427424.1 |
| exon_skip_324249 | 2 | 27900604:27900791:27905114:27905226:27907903:27908144 | 27905114:27905226 | ENSG00000163798.9 | ENST00000326019.6 |
| exon_skip_324251 | 2 | 27907903:27908144:27910800:27910887:27911566:27911634 | 27910800:27910887 | ENSG00000163798.9 | ENST00000326019.6 |
| exon_skip_324259 | 2 | 27910800:27910887:27911566:27911634:27916551:27916621 | 27911566:27911634 | ENSG00000163798.9 | ENST00000326019.6 |
| 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 SLC4A1AP |
| 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 |
| ENST00000326019 | 27905114 | 27905226 | Frame-shift |
| ENST00000326019 | 27911566 | 27911634 | Frame-shift |
| ENST00000326019 | 27910800 | 27910887 | 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 |
| ENST00000326019 | 27905114 | 27905226 | Frame-shift |
| ENST00000326019 | 27911566 | 27911634 | Frame-shift |
| ENST00000326019 | 27910800 | 27910887 | In-frame |
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Infer the effects of exon skipping event on protein functional features for SLC4A1AP |
| 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 |
| ENST00000326019 | 2976 | 796 | 27910800 | 27910887 | 2399 | 2485 | 705 | 734 |
| 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 |
| ENST00000326019 | 2976 | 796 | 27910800 | 27910887 | 2399 | 2485 | 705 | 734 |
| 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 |
| Q9BWU0 | 705 | 734 | 1 | 796 | Chain | ID=PRO_0000076268;Note=Kanadaptin |
| Q9BWU0 | 705 | 734 | 644 | 715 | Compositional bias | Note=Glu-rich |
| Q9BWU0 | 705 | 734 | 709 | 709 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
| Q9BWU0 | 705 | 734 | 712 | 712 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:23186163;Dbxref=PMID:20068231,PMID:23186163 |
| 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 |
| Q9BWU0 | 705 | 734 | 1 | 796 | Chain | ID=PRO_0000076268;Note=Kanadaptin |
| Q9BWU0 | 705 | 734 | 644 | 715 | Compositional bias | Note=Glu-rich |
| Q9BWU0 | 705 | 734 | 709 | 709 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
| Q9BWU0 | 705 | 734 | 712 | 712 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:23186163;Dbxref=PMID:20068231,PMID:23186163 |
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SNVs in the skipped exons for SLC4A1AP |
| - 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_324249 | 27905115 | 27905226 | 27905203 | 27905203 | Frame_Shift_Del | A | - | p.K618fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_324249 | 27905115 | 27905226 | 27905208 | 27905208 | Frame_Shift_Del | A | - | p.L619fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_324249 | 27905115 | 27905226 | 27905208 | 27905208 | Frame_Shift_Del | A | - | p.L619fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_324249 | 27905115 | 27905226 | 27905224 | 27905224 | Frame_Shift_Del | G | - | p.G625fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_324259 | 27911567 | 27911634 | 27911608 | 27911608 | Frame_Shift_Del | A | - | p.K751fs |
| LUSC | TCGA-46-3768-01 | exon_skip_324247 | 27887967 | 27888162 | 27887973 | 27887973 | Nonsense_Mutation | G | T | p.E278* |
| UCEC | TCGA-AX-A05Z-01 | exon_skip_324247 | 27887967 | 27888162 | 27887982 | 27887982 | Nonsense_Mutation | C | T | p.R281* |
| THYM | TCGA-XU-AAXX-01 | exon_skip_324249 | 27905115 | 27905226 | 27905140 | 27905140 | Nonsense_Mutation | G | T | p.E597X |
| BRCA | TCGA-BH-A0HY-01 | exon_skip_324251 | 27910801 | 27910887 | 27910885 | 27910885 | Nonsense_Mutation | C | A | p.S734* |
| - 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 |
| NCIH2731_PLEURA | 27887967 | 27888162 | 27888027 | 27888027 | Missense_Mutation | C | T | p.R296C |
| EN_ENDOMETRIUM | 27887967 | 27888162 | 27888044 | 27888044 | Missense_Mutation | A | G | p.I301M |
| HPAC_PANCREAS | 27887967 | 27888162 | 27888063 | 27888063 | Missense_Mutation | C | G | p.L308V |
| NCIH209_LUNG | 27887967 | 27888162 | 27888127 | 27888127 | Missense_Mutation | G | A | p.S329N |
| ES3_BONE | 27887967 | 27888162 | 27888127 | 27888127 | Missense_Mutation | G | A | p.S329N |
| NCIBL209_MATCHED_NORMAL_TISSUE | 27887967 | 27888162 | 27888127 | 27888127 | Missense_Mutation | G | A | p.S329N |
| PCM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 27905115 | 27905226 | 27905165 | 27905165 | Missense_Mutation | T | C | p.L605S |
| SNU1040_LARGE_INTESTINE | 27905115 | 27905226 | 27905183 | 27905183 | Missense_Mutation | T | C | p.M611T |
| CW2_LARGE_INTESTINE | 27887967 | 27888162 | 27888161 | 27888161 | Splice_Site | G | T | p.M340I |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SLC4A1AP |
| 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 SLC4A1AP |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SLC4A1AP |
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RelatedDrugs for SLC4A1AP |
| 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 SLC4A1AP |
| 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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