|
||||||
|
 | |
| |
| |
| |
| 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 RAX |
 Gene summary |
| Gene information | Gene symbol | RAX | Gene ID | 30062 |
| Gene name | retina and anterior neural fold homeobox | |
| Synonyms | MCOP3|RX | |
| Cytomap | 18q21.32 | |
| Type of gene | protein-coding | |
| Description | retinal homeobox protein Rxretina and anterior neural fold homeobox protein | |
| Modification date | 20180519 | |
| UniProtAcc | Q9Y2V3 | |
| Context | PubMed: RAX [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 |
| RAX | GO:0045944 | positive regulation of transcription by RNA polymerase II | 10625658 |
Top |
Exon skipping events across known transcript of Ensembl for RAX 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 RAX |
| Expression levels of gene isoforms across TCGA. |
 |
| Expression levels of gene isoforms across GTEx. |
 |
Top |
Exon skipping events with PSIs in TCGA for RAX |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_299550 | 18 | 56934266:56936733:56939592:56939846:56940149:56940617 | 56939592:56939846 | ENSG00000134438.9 | ENST00000334889.3 |
| PSI values of skipped exons in TCGA. |
 |
Top |
Exon skipping events with PSIs in GTEx for RAX |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_299550 | 18 | 56934266:56936733:56939592:56939846:56940149:56940617 | 56939592:56939846 | ENSG00000134438.9 | ENST00000334889.3 |
| PSI values of skipped exons in GTEx. |
 |
| * Skipped exon sequences. |
Top |
Open reading frame (ORF) annotation in the exon skipping event for RAX |
| 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 |
| ENST00000334889 | 56939592 | 56939846 | Frame-shift |
| 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 |
| ENST00000334889 | 56939592 | 56939846 | Frame-shift |
Top |
Infer the effects of exon skipping event on protein functional features for RAX |
| 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 |
| 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 |
Top |
SNVs in the skipped exons for RAX |
| - 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 |
| ACC | TCGA-OR-A5J4-01 | exon_skip_299550 | 56939593 | 56939846 | 56939705 | 56939706 | Frame_Shift_Ins | - | T | p.H144fs |
| ACC | TCGA-OR-A5J4-01 | exon_skip_299550 | 56939593 | 56939846 | 56939705 | 56939706 | Frame_Shift_Ins | - | T | p.T144fs |
| HNSC | TCGA-CQ-7063-01 | exon_skip_299550 | 56939593 | 56939846 | 56939841 | 56939841 | Nonsense_Mutation | G | A | p.R99* |
| - 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 |
| LIM1215_LARGE_INTESTINE | 56939593 | 56939846 | 56939632 | 56939632 | Missense_Mutation | C | G | p.E168D |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 56939593 | 56939846 | 56939642 | 56939642 | Missense_Mutation | C | T | p.S165N |
| NUGC2_STOMACH | 56939593 | 56939846 | 56939659 | 56939659 | Missense_Mutation | G | T | p.H159Q |
| HEC6_ENDOMETRIUM | 56939593 | 56939846 | 56939675 | 56939675 | Missense_Mutation | G | A | p.A154V |
| KMH2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 56939593 | 56939846 | 56939682 | 56939682 | Missense_Mutation | C | G | p.E152Q |
| HEC108_ENDOMETRIUM | 56939593 | 56939846 | 56939712 | 56939712 | Missense_Mutation | T | C | p.T142A |
| HEC59_ENDOMETRIUM | 56939593 | 56939846 | 56939724 | 56939724 | Missense_Mutation | G | A | p.R138W |
| HEMCSS_BONE | 56939593 | 56939846 | 56939744 | 56939744 | Missense_Mutation | T | C | p.Q131R |
| BPH1_PROSTATE | 56939593 | 56939846 | 56939808 | 56939808 | Missense_Mutation | G | A | p.R110W |
| REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 56939593 | 56939846 | 56939808 | 56939808 | Missense_Mutation | G | A | p.R110W |
| C33A_CERVIX | 56939593 | 56939846 | 56939841 | 56939841 | Nonsense_Mutation | G | A | p.R99* |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for RAX |
| 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 RAX |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for RAX |
Top |
RelatedDrugs for RAX |
| 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 RAX |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| RAX | C0003119 | Anophthalmos | 1 | CTD_human;HPO |
| RAX | C0025202 | melanoma | 1 | CTD_human |
| RAX | C0376634 | Craniofacial Abnormalities | 1 | CTD_human |
| RAX | C1970237 | Microphthalmia, Isolated 3 | 1 | CTD_human;UNIPROT |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|