|
||||||
|
 | |
| |
| |
| |
| 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 SLC30A9 |
 Gene summary |
| Gene information | Gene symbol | SLC30A9 | Gene ID | 10463 |
| Gene name | solute carrier family 30 member 9 | |
| Synonyms | BILAPES|C4orf1|GAC63|HUEL|ZNT9 | |
| Cytomap | 4p13 | |
| Type of gene | protein-coding | |
| Description | zinc transporter 9GRIP1-dependent nuclear receptor coactivatorexpressed in human embryonic lunghuman embryonic lung proteinsolute carrier family 30 (zinc transporter), member 9znT-9 | |
| Modification date | 20180519 | |
| UniProtAcc | Q6PML9 | |
| Context | PubMed: SLC30A9 [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 SLC30A9 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 SLC30A9 |
| Expression levels of gene isoforms across TCGA. |
 |
| Expression levels of gene isoforms across GTEx. |
 |
Top |
Exon skipping events with PSIs in TCGA for SLC30A9 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_423354 | 4 | 42003632:42003797:42020127:42020187:42022432:42022532 | 42020127:42020187 | ENSG00000014824.9 | ENST00000510460.1,ENST00000264451.7 |
| exon_skip_423358 | 4 | 42020130:42020187:42020405:42020522:42022432:42022532 | 42020405:42020522 | ENSG00000014824.9 | ENST00000513699.1 |
| exon_skip_423360 | 4 | 42025318:42025401:42037291:42037350:42041002:42041070 | 42037291:42037350 | ENSG00000014824.9 | ENST00000513699.1,ENST00000264451.7 |
| exon_skip_423361 | 4 | 42041002:42041070:42051393:42051496:42062207:42062263 | 42051393:42051496 | ENSG00000014824.9 | ENST00000513699.1,ENST00000264451.7 |
| exon_skip_423363 | 4 | 42051393:42051496:42062207:42062263:42065002:42065138 | 42062207:42062263 | ENSG00000014824.9 | ENST00000513699.1,ENST00000264451.7 |
| exon_skip_423367 | 4 | 42069101:42069209:42072542:42072708:42077673:42077803 | 42072542:42072708 | ENSG00000014824.9 | ENST00000513699.1,ENST00000264451.7 |
| exon_skip_423370 | 4 | 42069101:42069209:42077673:42077803:42080228:42080342 | 42077673:42077803 | ENSG00000014824.9 | ENST00000509683.1 |
| exon_skip_423374 | 4 | 42072542:42072708:42077673:42077803:42080228:42080342 | 42077673:42077803 | ENSG00000014824.9 | ENST00000513699.1,ENST00000505523.1,ENST00000264451.7 |
| exon_skip_423377 | 4 | 42077673:42077803:42080228:42080342:42088098:42088386 | 42080228:42080342 | ENSG00000014824.9 | ENST00000513699.1,ENST00000505523.1,ENST00000264451.7 |
| PSI values of skipped exons in TCGA. |
 |
Top |
Exon skipping events with PSIs in GTEx for SLC30A9 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_423354 | 4 | 42003632:42003797:42020127:42020187:42022432:42022532 | 42020127:42020187 | ENSG00000014824.9 | ENST00000264451.7,ENST00000510460.1 |
| exon_skip_423358 | 4 | 42020130:42020187:42020405:42020522:42022432:42022532 | 42020405:42020522 | ENSG00000014824.9 | ENST00000513699.1 |
| exon_skip_423360 | 4 | 42025318:42025401:42037291:42037350:42041002:42041070 | 42037291:42037350 | ENSG00000014824.9 | ENST00000264451.7,ENST00000513699.1 |
| exon_skip_423361 | 4 | 42041002:42041070:42051393:42051496:42062207:42062263 | 42051393:42051496 | ENSG00000014824.9 | ENST00000264451.7,ENST00000513699.1 |
| exon_skip_423363 | 4 | 42051393:42051496:42062207:42062263:42065002:42065138 | 42062207:42062263 | ENSG00000014824.9 | ENST00000264451.7,ENST00000513699.1 |
| exon_skip_423367 | 4 | 42069101:42069209:42072542:42072708:42077673:42077803 | 42072542:42072708 | ENSG00000014824.9 | ENST00000264451.7,ENST00000513699.1 |
| exon_skip_423370 | 4 | 42069101:42069209:42077673:42077803:42080228:42080342 | 42077673:42077803 | ENSG00000014824.9 | ENST00000509683.1 |
| exon_skip_423374 | 4 | 42072542:42072708:42077673:42077803:42080228:42080342 | 42077673:42077803 | ENSG00000014824.9 | ENST00000264451.7,ENST00000513699.1,ENST00000505523.1 |
| exon_skip_423377 | 4 | 42077673:42077803:42080228:42080342:42088098:42088386 | 42080228:42080342 | ENSG00000014824.9 | ENST00000264451.7,ENST00000513699.1,ENST00000505523.1 |
| PSI values of skipped exons in GTEx. |
 |
| * Skipped exon sequences. |
Top |
Open reading frame (ORF) annotation in the exon skipping event for SLC30A9 |
| 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 |
| ENST00000264451 | 42037291 | 42037350 | Frame-shift |
| ENST00000264451 | 42051393 | 42051496 | Frame-shift |
| ENST00000264451 | 42062207 | 42062263 | Frame-shift |
| ENST00000264451 | 42072542 | 42072708 | Frame-shift |
| ENST00000264451 | 42077673 | 42077803 | Frame-shift |
| ENST00000264451 | 42020127 | 42020187 | In-frame |
| ENST00000264451 | 42080228 | 42080342 | 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 |
| ENST00000264451 | 42037291 | 42037350 | Frame-shift |
| ENST00000264451 | 42051393 | 42051496 | Frame-shift |
| ENST00000264451 | 42062207 | 42062263 | Frame-shift |
| ENST00000264451 | 42072542 | 42072708 | Frame-shift |
| ENST00000264451 | 42077673 | 42077803 | Frame-shift |
| ENST00000264451 | 42020127 | 42020187 | In-frame |
| ENST00000264451 | 42080228 | 42080342 | In-frame |
Top |
Infer the effects of exon skipping event on protein functional features for SLC30A9 |
| 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 |
| ENST00000264451 | 6235 | 568 | 42020127 | 42020187 | 455 | 514 | 91 | 111 |
| ENST00000264451 | 6235 | 568 | 42080228 | 42080342 | 1729 | 1842 | 516 | 554 |
| 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 |
| ENST00000264451 | 6235 | 568 | 42020127 | 42020187 | 455 | 514 | 91 | 111 |
| ENST00000264451 | 6235 | 568 | 42080228 | 42080342 | 1729 | 1842 | 516 | 554 |
| 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 |
| Q6PML9 | 91 | 111 | 1 | 568 | Chain | ID=PRO_0000295805;Note=Zinc transporter 9 |
| Q6PML9 | 91 | 111 | 97 | 97 | Natural variant | ID=VAR_052004;Note=T->A;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10409434,ECO:0000269|PubMed:15489334,ECO:0000269|Ref.3;Dbxref=dbSNP:rs2581423,PMID:10409434,PMID:15489334 |
| Q6PML9 | 516 | 554 | 1 | 568 | Chain | ID=PRO_0000295805;Note=Zinc transporter 9 |
| 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 |
| Q6PML9 | 91 | 111 | 1 | 568 | Chain | ID=PRO_0000295805;Note=Zinc transporter 9 |
| Q6PML9 | 91 | 111 | 97 | 97 | Natural variant | ID=VAR_052004;Note=T->A;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10409434,ECO:0000269|PubMed:15489334,ECO:0000269|Ref.3;Dbxref=dbSNP:rs2581423,PMID:10409434,PMID:15489334 |
| Q6PML9 | 516 | 554 | 1 | 568 | Chain | ID=PRO_0000295805;Note=Zinc transporter 9 |
Top |
SNVs in the skipped exons for SLC30A9 |
| - 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. |
| - 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 |
| STAD | TCGA-BR-4256-01 | exon_skip_423360 | 42037292 | 42037350 | 42037307 | 42037307 | Frame_Shift_Del | A | - | p.Q209fs |
| HNSC | TCGA-QK-A8Z8-01 | exon_skip_423367 | 42072543 | 42072708 | 42072566 | 42072566 | Frame_Shift_Del | G | - | p.G426fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_423367 | 42072543 | 42072708 | 42072593 | 42072593 | Frame_Shift_Del | G | - | p.G435fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_423367 | 42072543 | 42072708 | 42072598 | 42072598 | Frame_Shift_Del | G | - | p.M436fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_423377 | 42080229 | 42080342 | 42080287 | 42080287 | Frame_Shift_Del | A | - | p.E536fs |
| COAD | TCGA-CA-6717-01 | exon_skip_423354 | 42020128 | 42020187 | 42020145 | 42020145 | Nonsense_Mutation | G | T | p.E98X |
| READ | TCGA-AG-A002-01 | exon_skip_423354 | 42020128 | 42020187 | 42020145 | 42020145 | Nonsense_Mutation | G | T | p.E98X |
| READ | TCGA-F5-6814-01 | exon_skip_423360 | 42037292 | 42037350 | 42037321 | 42037321 | Nonsense_Mutation | G | T | p.E214X |
| BLCA | TCGA-4Z-AA80-01 | exon_skip_423361 | 42051394 | 42051496 | 42051474 | 42051474 | Nonsense_Mutation | C | G | p.S273* |
| ESCA | TCGA-L5-A4ON-01 | exon_skip_423377 | 42080229 | 42080342 | 42080286 | 42080286 | Nonsense_Mutation | G | T | p.E536* |
| ESCA | TCGA-L5-A4ON-01 | exon_skip_423377 | 42080229 | 42080342 | 42080286 | 42080286 | Nonsense_Mutation | G | T | p.E536X |
| READ | TCGA-AG-A002-01 | exon_skip_423377 | 42080229 | 42080342 | 42080286 | 42080286 | Nonsense_Mutation | G | T | p.E536X |
| - 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 |
| A2780_OVARY | 42037292 | 42037350 | 42037307 | 42037307 | Frame_Shift_Del | A | - | p.Q209fs |
| SNU175_LARGE_INTESTINE | 42037292 | 42037350 | 42037306 | 42037307 | Frame_Shift_Ins | - | A | p.Q209fs |
| CCK81_LARGE_INTESTINE | 42037292 | 42037350 | 42037306 | 42037307 | Frame_Shift_Ins | - | A | p.Q209fs |
| HEC251_ENDOMETRIUM | 42020128 | 42020187 | 42020164 | 42020164 | Missense_Mutation | A | G | p.K104R |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 42020128 | 42020187 | 42020171 | 42020171 | Missense_Mutation | A | C | p.E106D |
| HTCC3_THYROID | 42020128 | 42020187 | 42020175 | 42020175 | Missense_Mutation | C | T | p.L108F |
| SUDHL6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 42037292 | 42037350 | 42037319 | 42037319 | Missense_Mutation | G | A | p.R213K |
| KMS11_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 42037292 | 42037350 | 42037325 | 42037325 | Missense_Mutation | A | G | p.Y215C |
| CAOV4_OVARY | 42051394 | 42051496 | 42051430 | 42051430 | Missense_Mutation | G | C | p.W258C |
| KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 42051394 | 42051496 | 42051440 | 42051440 | Missense_Mutation | G | A | p.G262S |
| ATN1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 42072543 | 42072708 | 42072596 | 42072596 | Missense_Mutation | A | G | p.M436V |
| SW962_VULVA | 42077674 | 42077803 | 42077744 | 42077744 | Missense_Mutation | G | C | p.D497H |
| KM12_LARGE_INTESTINE | 42077674 | 42077803 | 42077751 | 42077751 | Missense_Mutation | G | A | p.R499Q |
| ALLPO_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 42077674 | 42077803 | 42077751 | 42077751 | Missense_Mutation | G | A | p.R499Q |
| HEC251_ENDOMETRIUM | 42077674 | 42077803 | 42077783 | 42077783 | Missense_Mutation | G | T | p.D510Y |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 42077674 | 42077803 | 42077798 | 42077798 | Missense_Mutation | T | A | p.L515I |
| SNU1040_LARGE_INTESTINE | 42080229 | 42080342 | 42080296 | 42080296 | Missense_Mutation | T | C | p.I539T |
| SNU1040_LARGE_INTESTINE | 42020128 | 42020187 | 42020187 | 42020187 | Splice_Site | G | T | p.V112F |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SLC30A9 |
| 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 SLC30A9 |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SLC30A9 |
Top |
RelatedDrugs for SLC30A9 |
| 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 SLC30A9 |
| 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)
|