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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 SLC8A3 |
 Gene summary |
| Gene information | Gene symbol | SLC8A3 | Gene ID | 6547 |
| Gene name | solute carrier family 8 member A3 | |
| Synonyms | NCX3 | |
| Cytomap | 14q24.2 | |
| Type of gene | protein-coding | |
| Description | sodium/calcium exchanger 3Na(+)/Ca(2+)-exchange protein 3sodium/calcium exchanger SLC8A3solute carrier family 8 (sodium/calcium exchanger), member 3 | |
| Modification date | 20180519 | |
| UniProtAcc | P57103 | |
| Context | PubMed: SLC8A3 [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 SLC8A3 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 SLC8A3 |
| 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 SLC8A3 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_114112 | 14 | 70518706:70518831:70522512:70522530:70527552:70527656 | 70522512:70522530 | ENSG00000100678.14 | ENST00000381269.2 |
| exon_skip_114113 | 14 | 70518706:70518831:70527552:70527656:70546681:70546897 | 70527552:70527656 | ENSG00000100678.14 | ENST00000216568.7 |
| exon_skip_114114 | 14 | 70518706:70518831:70527552:70527656:70633355:70635201 | 70527552:70527656 | ENSG00000100678.14 | ENST00000356921.2 |
| exon_skip_114117 | 14 | 70527552:70527656:70633355:70635201:70655095:70655787 | 70633355:70635201 | ENSG00000100678.14 | ENST00000381269.2 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for SLC8A3 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_114112 | 14 | 70518706:70518831:70522512:70522530:70527552:70527656 | 70522512:70522530 | ENSG00000100678.14 | ENST00000381269.2 |
| exon_skip_114113 | 14 | 70518706:70518831:70527552:70527656:70546681:70546897 | 70527552:70527656 | ENSG00000100678.14 | ENST00000216568.7 |
| exon_skip_114114 | 14 | 70518706:70518831:70527552:70527656:70633355:70635201 | 70527552:70527656 | ENSG00000100678.14 | ENST00000356921.2 |
| exon_skip_114117 | 14 | 70527552:70527656:70633355:70635201:70655095:70655787 | 70633355:70635201 | ENSG00000100678.14 | ENST00000381269.2 |
| 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 SLC8A3 |
| 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 |
| ENST00000381269 | 70633355 | 70635201 | 3UTR-3CDS |
| ENST00000381269 | 70522512 | 70522530 | 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 |
| ENST00000381269 | 70633355 | 70635201 | 3UTR-3CDS |
| ENST00000381269 | 70522512 | 70522530 | In-frame |
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Infer the effects of exon skipping event on protein functional features for SLC8A3 |
| 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 SLC8A3 |
| - 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-DD-A1EG-01 | exon_skip_114113 exon_skip_114114 | 70527553 | 70527656 | 70527589 | 70527589 | Frame_Shift_Del | G | - | p.L618fs |
| SARC | TCGA-X6-A8C2-01 | exon_skip_114117 | 70633356 | 70635201 | 70634157 | 70634157 | Frame_Shift_Del | G | - | p.P328fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_114117 | 70633356 | 70635201 | 70634758 | 70634758 | Frame_Shift_Del | C | - | p.V128fs |
| LGG | TCGA-DH-5142-01 | exon_skip_114117 | 70633356 | 70635201 | 70633381 | 70633382 | Frame_Shift_Ins | - | C | p.DG586fs |
| SKCM | TCGA-GN-A8LK-06 | exon_skip_114113 exon_skip_114114 | 70527553 | 70527656 | 70527572 | 70527572 | Nonsense_Mutation | C | T | p.W623* |
| UCEC | TCGA-BS-A0UF-01 | exon_skip_114117 | 70633356 | 70635201 | 70634017 | 70634017 | Nonsense_Mutation | C | A | p.E375* |
| HNSC | TCGA-CV-7252-01 | exon_skip_114117 | 70633356 | 70635201 | 70634140 | 70634140 | Nonsense_Mutation | G | A | p.Q334* |
| UCEC | TCGA-AX-A05U-01 | exon_skip_114117 | 70633356 | 70635201 | 70634329 | 70634329 | Nonsense_Mutation | G | A | p.R271* |
| SKCM | TCGA-EE-A2MF-06 | exon_skip_114117 | 70633356 | 70635201 | 70634452 | 70634452 | Nonsense_Mutation | G | A | p.Q230* |
| SKCM | TCGA-EE-A2MF-06 | exon_skip_114117 | 70633356 | 70635201 | 70634452 | 70634452 | Nonsense_Mutation | G | A | p.Q230X |
| LUAD | TCGA-97-8171-01 | exon_skip_114117 | 70633356 | 70635201 | 70634539 | 70634539 | Nonsense_Mutation | G | A | p.R201* |
| PAAD | TCGA-XD-AAUL-01 | exon_skip_114117 | 70633356 | 70635201 | 70634978 | 70634978 | Nonsense_Mutation | G | T | p.C54* |
| PAAD | TCGA-XD-AAUL-01 | exon_skip_114117 | 70633356 | 70635201 | 70634978 | 70634978 | Nonsense_Mutation | G | T | p.C54X |
| LUAD | TCGA-78-8640-01 | exon_skip_114117 | 70633356 | 70635201 | 70634985 | 70634985 | Nonsense_Mutation | G | T | p.S52* |
| THCA | TCGA-EL-A3D6-01 | exon_skip_114112 | 70522513 | 70522530 | 70522512 | 70522512 | Splice_Site | C | T | . |
| UCEC | TCGA-B5-A11E-01 | exon_skip_114113 exon_skip_114114 | 70527553 | 70527656 | 70527551 | 70527551 | Splice_Site | A | G | e2+2 |
| - 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 |
| MEWO_SKIN | 70633356 | 70635201 | 70634684 | 70634685 | Frame_Shift_Ins | - | AA | p.L152fs |
| CP66MEL_SKIN | 70633356 | 70635201 | 70634480 | 70634485 | In_Frame_Del | AATCAT | - | p.MI219del |
| SW1417_LARGE_INTESTINE | 70527553 | 70527656 | 70527565 | 70527565 | Missense_Mutation | G | A | p.R626C |
| SNU81_LARGE_INTESTINE | 70527553 | 70527656 | 70527605 | 70527605 | Missense_Mutation | C | A | p.E612D |
| HCC1395_BREAST | 70527553 | 70527656 | 70527607 | 70527607 | Missense_Mutation | C | G | p.E612Q |
| GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 70527553 | 70527656 | 70527627 | 70527627 | Missense_Mutation | T | A | p.E605V |
| IPC298_SKIN | 70633356 | 70635201 | 70633384 | 70633384 | Missense_Mutation | C | T | p.E586K |
| RCCJF_KIDNEY | 70633356 | 70635201 | 70633384 | 70633384 | Missense_Mutation | C | T | p.E586K |
| CORL95_LUNG | 70633356 | 70635201 | 70633399 | 70633399 | Missense_Mutation | C | T | p.E581K |
| NCIH1770_LUNG | 70633356 | 70635201 | 70633428 | 70633428 | Missense_Mutation | C | T | p.G571E |
| KYSE410_OESOPHAGUS | 70633356 | 70635201 | 70633446 | 70633446 | Missense_Mutation | G | A | p.P565L |
| TCYIK_CERVIX | 70633356 | 70635201 | 70633450 | 70633450 | Missense_Mutation | C | T | p.V564I |
| PK1_PANCREAS | 70633356 | 70635201 | 70633479 | 70633479 | Missense_Mutation | C | T | p.R554Q |
| HEC1A_ENDOMETRIUM | 70633356 | 70635201 | 70633479 | 70633479 | Missense_Mutation | C | T | p.R554Q |
| HEC1_ENDOMETRIUM | 70633356 | 70635201 | 70633479 | 70633479 | Missense_Mutation | C | T | p.R554Q |
| SW684_SOFT_TISSUE | 70633356 | 70635201 | 70633496 | 70633496 | Missense_Mutation | C | T | p.M548I |
| HOP62_LUNG | 70633356 | 70635201 | 70633513 | 70633513 | Missense_Mutation | C | G | p.E543Q |
| SUPHD1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 70633356 | 70635201 | 70633549 | 70633549 | Missense_Mutation | T | C | p.I531V |
| OC316_OVARY | 70633356 | 70635201 | 70633641 | 70633641 | Missense_Mutation | G | A | p.P500L |
| OC314_OVARY | 70633356 | 70635201 | 70633641 | 70633641 | Missense_Mutation | G | A | p.P500L |
| MCC13_SKIN | 70633356 | 70635201 | 70633672 | 70633672 | Missense_Mutation | C | T | p.E490K |
| NB13_AUTONOMIC_GANGLIA | 70633356 | 70635201 | 70633683 | 70633683 | Missense_Mutation | T | C | p.N486S |
| HCC2450_LUNG | 70633356 | 70635201 | 70633688 | 70633688 | Missense_Mutation | C | G | p.L484F |
| HT115_LARGE_INTESTINE | 70633356 | 70635201 | 70633726 | 70633726 | Missense_Mutation | C | T | p.D472N |
| NCIH345_LUNG | 70633356 | 70635201 | 70633726 | 70633726 | Missense_Mutation | C | A | p.D472Y |
| CORL95_LUNG | 70633356 | 70635201 | 70633732 | 70633732 | Missense_Mutation | C | T | p.D470N |
| SNU81_LARGE_INTESTINE | 70633356 | 70635201 | 70633748 | 70633748 | Missense_Mutation | G | T | p.F464L |
| COLO699_LUNG | 70633356 | 70635201 | 70633763 | 70633763 | Missense_Mutation | C | A | p.E459D |
| SW1573_LUNG | 70633356 | 70635201 | 70633779 | 70633779 | Missense_Mutation | A | G | p.V454A |
| RL952_ENDOMETRIUM | 70633356 | 70635201 | 70633785 | 70633785 | Missense_Mutation | G | A | p.T452M |
| MHHPREB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 70633356 | 70635201 | 70633785 | 70633785 | Missense_Mutation | G | A | p.T452M |
| AM38_CENTRAL_NERVOUS_SYSTEM | 70633356 | 70635201 | 70633846 | 70633846 | Missense_Mutation | C | A | p.D432Y |
| CORL95_LUNG | 70633356 | 70635201 | 70633870 | 70633870 | Missense_Mutation | C | T | p.D424N |
| NCIH513_PLEURA | 70633356 | 70635201 | 70634062 | 70634062 | Missense_Mutation | G | A | p.R360C |
| HCC1569_BREAST | 70633356 | 70635201 | 70634065 | 70634065 | Missense_Mutation | T | C | p.T359A |
| KATOIII_STOMACH | 70633356 | 70635201 | 70634088 | 70634088 | Missense_Mutation | C | T | p.R351H |
| MKN1_STOMACH | 70633356 | 70635201 | 70634088 | 70634088 | Missense_Mutation | C | T | p.R351H |
| LCLC97TM1_LUNG | 70633356 | 70635201 | 70634089 | 70634089 | Missense_Mutation | G | A | p.R351C |
| IGR1_SKIN | 70633356 | 70635201 | 70634106 | 70634106 | Missense_Mutation | G | A | p.S345F |
| LB373MELD_SKIN | 70633356 | 70635201 | 70634187 | 70634187 | Missense_Mutation | C | T | p.R318Q |
| LU139_LUNG | 70633356 | 70635201 | 70634187 | 70634187 | Missense_Mutation | C | T | p.R318Q |
| CORL95_LUNG | 70633356 | 70635201 | 70634212 | 70634212 | Missense_Mutation | C | G | p.D310H |
| NCIH1573_LUNG | 70633356 | 70635201 | 70634251 | 70634251 | Missense_Mutation | G | C | p.L297V |
| SNU81_LARGE_INTESTINE | 70633356 | 70635201 | 70634264 | 70634264 | Missense_Mutation | C | T | p.M292I |
| M14_SKIN | 70633356 | 70635201 | 70634278 | 70634278 | Missense_Mutation | C | T | p.D288N |
| NCIH2342_LUNG | 70633356 | 70635201 | 70634290 | 70634290 | Missense_Mutation | C | A | p.G284C |
| MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 70633356 | 70635201 | 70634325 | 70634325 | Missense_Mutation | C | T | p.G272E |
| NCIH524_LUNG | 70633356 | 70635201 | 70634330 | 70634330 | Missense_Mutation | G | T | p.H270Q |
| NCIH2405_LUNG | 70633356 | 70635201 | 70634413 | 70634413 | Missense_Mutation | C | T | p.V243M |
| SW1573_LUNG | 70633356 | 70635201 | 70634500 | 70634500 | Missense_Mutation | A | G | p.Y214H |
| NCIH1688_LUNG | 70633356 | 70635201 | 70634500 | 70634500 | Missense_Mutation | A | G | p.Y214H |
| NCIH1373_LUNG | 70633356 | 70635201 | 70634552 | 70634552 | Missense_Mutation | C | G | p.K196N |
| SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 70633356 | 70635201 | 70634556 | 70634556 | Missense_Mutation | C | T | p.R195H |
| KYSE450_OESOPHAGUS | 70633356 | 70635201 | 70634578 | 70634578 | Missense_Mutation | C | G | p.V188L |
| SNU175_LARGE_INTESTINE | 70633356 | 70635201 | 70634655 | 70634655 | Missense_Mutation | G | T | p.A162D |
| NCIBL1437_MATCHED_NORMAL_TISSUE | 70633356 | 70635201 | 70634694 | 70634694 | Missense_Mutation | A | T | p.L149H |
| C33A_CERVIX | 70633356 | 70635201 | 70634700 | 70634700 | Missense_Mutation | T | G | p.E147A |
| IPC298_SKIN | 70633356 | 70635201 | 70634712 | 70634712 | Missense_Mutation | G | A | p.S143F |
| OVMANA_OVARY | 70633356 | 70635201 | 70634721 | 70634721 | Missense_Mutation | G | T | p.A140D |
| SW1271_LUNG | 70633356 | 70635201 | 70634733 | 70634733 | Missense_Mutation | A | C | p.L136R |
| UACC257_SKIN | 70633356 | 70635201 | 70634749 | 70634749 | Missense_Mutation | C | T | p.E131K |
| RAJI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 70633356 | 70635201 | 70634778 | 70634778 | Missense_Mutation | G | C | p.T121S |
| SW684_SOFT_TISSUE | 70633356 | 70635201 | 70634809 | 70634809 | Missense_Mutation | C | T | p.E111K |
| SKCO1_LARGE_INTESTINE | 70633356 | 70635201 | 70634892 | 70634892 | Missense_Mutation | G | A | p.A83V |
| HT115_LARGE_INTESTINE | 70633356 | 70635201 | 70634916 | 70634916 | Missense_Mutation | G | A | p.A75V |
| TE6_OESOPHAGUS | 70633356 | 70635201 | 70634935 | 70634935 | Missense_Mutation | A | C | p.S69A |
| NCIH2172_LUNG | 70633356 | 70635201 | 70634946 | 70634946 | Missense_Mutation | G | T | p.P65Q |
| ISTSL1_LUNG | 70633356 | 70635201 | 70634952 | 70634952 | Missense_Mutation | C | A | p.W63L |
| NALM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 70633356 | 70635201 | 70634998 | 70634998 | Missense_Mutation | A | G | p.C48R |
| ME1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 70633356 | 70635201 | 70635025 | 70635025 | Missense_Mutation | G | T | p.P39T |
| SKMEL30_SKIN | 70633356 | 70635201 | 70635049 | 70635049 | Missense_Mutation | C | T | p.E31K |
| CORL88_LUNG | 70633356 | 70635201 | 70635054 | 70635054 | Missense_Mutation | C | A | p.R29L |
| HT115_LARGE_INTESTINE | 70633356 | 70635201 | 70635058 | 70635058 | Missense_Mutation | G | T | p.L28I |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 70633356 | 70635201 | 70635061 | 70635061 | Missense_Mutation | C | A | p.G27C |
| OCIAML5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 70633356 | 70635201 | 70635061 | 70635061 | Missense_Mutation | C | A | p.G27C |
| NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 70633356 | 70635201 | 70635105 | 70635105 | Missense_Mutation | G | A | p.A12V |
| NCIH1693_LUNG | 70633356 | 70635201 | 70635126 | 70635126 | Missense_Mutation | C | T | p.R5K |
| HEPG2_LIVER | 70633356 | 70635201 | 70634539 | 70634539 | Nonsense_Mutation | G | A | p.R201* |
| HOP62_LUNG | 70633356 | 70635201 | 70634753 | 70634753 | Nonsense_Mutation | C | T | p.W129* |
| HEC151_ENDOMETRIUM | 70633356 | 70635201 | 70634754 | 70634754 | Nonsense_Mutation | C | T | p.W129* |
| PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 70633356 | 70635201 | 70635055 | 70635055 | Nonsense_Mutation | G | A | p.R29* |
| CPCN_LUNG | 70527553 | 70527656 | 70527553 | 70527553 | Splice_Site | C | A | p.A630S |
| PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 70527553 | 70527656 | 70527554 | 70527554 | Splice_Site | T | C | p.S629S |
| NCIH1568_LUNG | 70633356 | 70635201 | 70635138 | 70635138 | Start_Codon_SNP | A | G | p.M1T |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SLC8A3 |
| 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 SLC8A3 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SLC8A3 |
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RelatedDrugs for SLC8A3 |
| 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 SLC8A3 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| SLC8A3 | C0036572 | Seizures | 1 | CTD_human |
| SLC8A3 | C0038220 | Status Epilepticus | 1 | CTD_human |
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