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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 SLC39A4 |
 Gene summary |
| Gene information | Gene symbol | SLC39A4 | Gene ID | 55630 |
| Gene name | solute carrier family 39 member 4 | |
| Synonyms | AEZ|AWMS2|ZIP4 | |
| Cytomap | 8q24.3 | |
| Type of gene | protein-coding | |
| Description | zinc transporter ZIP4solute carrier family 39 (zinc transporter), member 4zrt- and Irt-like protein 4 | |
| Modification date | 20180523 | |
| UniProtAcc | Q6P5W5 | |
| Context | PubMed: SLC39A4 [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 SLC39A4 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 SLC39A4 |
| 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 SLC39A4 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_494196 | 8 | 145637946:145638050:145638142:145638330:145638620:145638771 | 145638142:145638330 | ENSG00000147804.5 | ENST00000531013.1,ENST00000301305.3,ENST00000527148.1,ENST00000532718.1,ENST00000276833.5 |
| exon_skip_494197 | 8 | 145637946:145638050:145638142:145638330:145638896:145638951 | 145638142:145638330 | ENSG00000147804.5 | ENST00000530807.1 |
| exon_skip_494202 | 8 | 145638142:145638330:145638620:145638773:145638896:145638951 | 145638620:145638773 | ENSG00000147804.5 | ENST00000529462.1,ENST00000301305.3,ENST00000532718.1,ENST00000276833.5 |
| exon_skip_494203 | 8 | 145639133:145639265:145639341:145639479:145639645:145639818 | 145639341:145639479 | ENSG00000147804.5 | ENST00000301305.3,ENST00000276833.5 |
| exon_skip_494211 | 8 | 145640629:145640803:145641193:145641475:145641981:145642203 | 145641193:145641475 | ENSG00000147804.5 | ENST00000301305.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for SLC39A4 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_494196 | 8 | 145637946:145638050:145638142:145638330:145638620:145638771 | 145638142:145638330 | ENSG00000147804.5 | ENST00000527148.1,ENST00000532718.1,ENST00000276833.5,ENST00000301305.3,ENST00000531013.1 |
| exon_skip_494197 | 8 | 145637946:145638050:145638142:145638330:145638896:145638951 | 145638142:145638330 | ENSG00000147804.5 | ENST00000530807.1 |
| exon_skip_494202 | 8 | 145638142:145638330:145638620:145638773:145638896:145638951 | 145638620:145638773 | ENSG00000147804.5 | ENST00000529462.1,ENST00000532718.1,ENST00000276833.5,ENST00000301305.3 |
| exon_skip_494203 | 8 | 145639133:145639265:145639341:145639479:145639645:145639818 | 145639341:145639479 | ENSG00000147804.5 | ENST00000276833.5,ENST00000301305.3 |
| exon_skip_494211 | 8 | 145640629:145640803:145641193:145641475:145641981:145642203 | 145641193:145641475 | ENSG00000147804.5 | ENST00000301305.3 |
| 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 SLC39A4 |
| 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 |
| 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 |
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Infer the effects of exon skipping event on protein functional features for SLC39A4 |
| 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 SLC39A4 |
| - 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-A3A0-01 | exon_skip_494196 exon_skip_494197 | 145638143 | 145638330 | 145638174 | 145638174 | Frame_Shift_Del | C | - | p.G570fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_494203 | 145639342 | 145639479 | 145639354 | 145639354 | Frame_Shift_Del | G | - | p.P400fs |
| SKCM | TCGA-RP-A693-06 | exon_skip_494196 exon_skip_494197 | 145638143 | 145638330 | 145638194 | 145638194 | Nonsense_Mutation | C | T | p.W563* |
| - 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 |
| HPBALL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 145638143 | 145638330 | 145638175 | 145638175 | Missense_Mutation | C | T | p.G595S |
| DMS79_LUNG | 145638143 | 145638330 | 145638210 | 145638210 | Missense_Mutation | T | A | p.E583V |
| CCK81_LARGE_INTESTINE | 145638143 | 145638330 | 145638226 | 145638226 | Missense_Mutation | C | T | p.A578T |
| SNU1197_LARGE_INTESTINE | 145638143 | 145638330 | 145638235 | 145638235 | Missense_Mutation | C | T | p.V575M |
| SKMM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 145638143 | 145638330 | 145638267 | 145638267 | Missense_Mutation | G | A | p.A564V |
| SNU1040_LARGE_INTESTINE | 145638143 | 145638330 | 145638322 | 145638322 | Missense_Mutation | C | T | p.A546T |
| NCIH748_LUNG | 145638621 | 145638773 | 145638641 | 145638641 | Missense_Mutation | T | A | p.H536L |
| KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 145638621 | 145638773 | 145638651 | 145638651 | Missense_Mutation | C | A | p.V533L |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 145638621 | 145638773 | 145638651 | 145638651 | Missense_Mutation | C | T | p.V533M |
| HEC1A_ENDOMETRIUM | 145638621 | 145638773 | 145638654 | 145638654 | Missense_Mutation | C | G | p.A532P |
| NEC8_TESTIS | 145638621 | 145638773 | 145638668 | 145638668 | Missense_Mutation | A | T | p.L527Q |
| GB1_CENTRAL_NERVOUS_SYSTEM | 145641194 | 145641475 | 145641220 | 145641220 | Missense_Mutation | G | A | p.R150W |
| JHH2_LIVER | 145641194 | 145641475 | 145641301 | 145641301 | Missense_Mutation | C | T | p.A123T |
| CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 145641194 | 145641475 | 145641325 | 145641325 | Missense_Mutation | G | A | p.R115W |
| SNGM_ENDOMETRIUM | 145641194 | 145641475 | 145641354 | 145641354 | Missense_Mutation | C | T | p.S105N |
| 2313287_STOMACH | 145641194 | 145641475 | 145641369 | 145641369 | Missense_Mutation | G | A | p.A100V |
| HEC6_ENDOMETRIUM | 145641194 | 145641475 | 145641373 | 145641373 | Missense_Mutation | C | T | p.A99T |
| A375_SKIN | 145641194 | 145641475 | 145641412 | 145641412 | Missense_Mutation | G | A | p.P86S |
| NCIH1651_LUNG | 145638143 | 145638330 | 145638143 | 145638143 | Splice_Site | C | A | p.M605I |
| NCIH513_PLEURA | 145638621 | 145638773 | 145638622 | 145638622 | Splice_Site | C | G | p.L542L |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SLC39A4 |
| 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 SLC39A4 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SLC39A4 |
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RelatedDrugs for SLC39A4 |
| 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 SLC39A4 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| SLC39A4 | C0221036 | Acrodermatitis enteropathica | 6 | CTD_human;ORPHANET;UNIPROT |
| SLC39A4 | C0001197 | Acrodermatitis | 5 | CTD_human |
| SLC39A4 | C0027627 | Neoplasm Metastasis | 1 | CTD_human |
| SLC39A4 | C0035228 | Respiratory Hypersensitivity | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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