|
||||||
|
 | |
| |
| |
| |
| 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 GHRH |
 Gene summary |
| Gene information | Gene symbol | GHRH | Gene ID | 2691 |
| Gene name | growth hormone releasing hormone | |
| Synonyms | GHRF|GRF|INN | |
| Cytomap | 20q11.23 | |
| Type of gene | protein-coding | |
| Description | somatoliberingrowth hormone releasing factorsermorelinsomatocrininsomatorelin | |
| Modification date | 20180523 | |
| UniProtAcc | P01286 | |
| Context | PubMed: GHRH [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 |
| GHRH | GO:0007189 | adenylate cyclase-activating G-protein coupled receptor signaling pathway | 1333056|3008329|7680413 |
| GHRH | GO:0008284 | positive regulation of cell proliferation | 12867592 |
| GHRH | GO:0030252 | growth hormone secretion | 2857452 |
| GHRH | GO:0060124 | positive regulation of growth hormone secretion | 3008329|8421089|18329818 |
Top |
Exon skipping events across known transcript of Ensembl for GHRH 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 GHRH |
| Expression levels of gene isoforms across TCGA. |
 |
| Expression levels of gene isoforms across GTEx. |
 |
Top |
Exon skipping events with PSIs in TCGA for GHRH |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_356907 | 20 | 35879488:35879634:35882612:35882732:35884796:35884901 | 35882612:35882732 | ENSG00000118702.5 | ENST00000373614.2,ENST00000237527.3 |
| PSI values of skipped exons in TCGA. |
 |
Top |
Exon skipping events with PSIs in GTEx for GHRH |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| PSI values of skipped exons in GTEx. |
 |
| * Skipped exon sequences. |
Top |
Open reading frame (ORF) annotation in the exon skipping event for GHRH |
| 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 |
| ENST00000237527 | 35882612 | 35882732 | In-frame |
| ENST00000373614 | 35882612 | 35882732 | 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 |
Top |
Infer the effects of exon skipping event on protein functional features for GHRH |
| 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 |
| ENST00000237527 | 478 | 108 | 35882612 | 35882732 | 196 | 315 | 63 | 102 |
| ENST00000373614 | 583 | 108 | 35882612 | 35882732 | 301 | 420 | 63 | 102 |
| 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 |
| P01286 | 63 | 102 | 75 | 75 | Modified residue | Note=Leucine amide;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:6812220;Dbxref=PMID:6812220 |
| P01286 | 63 | 102 | 75 | 75 | Modified residue | Note=Leucine amide;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:6812220;Dbxref=PMID:6812220 |
| P01286 | 63 | 102 | 75 | 75 | Natural variant | ID=VAR_024328;Note=L->F;Dbxref=dbSNP:rs4988492 |
| P01286 | 63 | 102 | 75 | 75 | Natural variant | ID=VAR_024328;Note=L->F;Dbxref=dbSNP:rs4988492 |
| P01286 | 63 | 102 | 32 | 75 | Peptide | ID=PRO_0000011439;Note=Somatoliberin |
| P01286 | 63 | 102 | 32 | 75 | Peptide | ID=PRO_0000011439;Note=Somatoliberin |
| P01286 | 63 | 102 | 78 | 108 | Propeptide | ID=PRO_0000011440 |
| P01286 | 63 | 102 | 78 | 108 | Propeptide | ID=PRO_0000011440 |
| P01286 | 63 | 102 | 92 | 92 | Sequence conflict | Note=E->D;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P01286 | 63 | 102 | 92 | 92 | Sequence conflict | Note=E->D;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| 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 GHRH |
| - 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 |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_356907 | 35882613 | 35882732 | 35882629 | 35882629 | Frame_Shift_Del | G | - | p.L99fs |
| COAD | TCGA-A6-5665-01 | exon_skip_356907 | 35882613 | 35882732 | 35882726 | 35882727 | Frame_Shift_Ins | - | CT | p.S65fs |
| LUAD | TCGA-MP-A4TF-01 | exon_skip_356907 | 35882613 | 35882732 | 35882716 | 35882716 | Nonsense_Mutation | G | A | p.R69* |
| STAD | TCGA-CG-5721-01 | exon_skip_356907 | 35882613 | 35882732 | 35882611 | 35882611 | Splice_Site | A | G | p.S103_splice |
| UCEC | TCGA-AX-A0J1-01 | exon_skip_356907 | 35882613 | 35882732 | 35882733 | 35882733 | Splice_Site | C | G | e3-1 |
| - 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 |
| HCC2998_LARGE_INTESTINE | 35882613 | 35882732 | 35882661 | 35882661 | Missense_Mutation | T | G | p.K87T |
| NCIH2171_LUNG | 35882613 | 35882732 | 35882723 | 35882723 | Missense_Mutation | G | T | p.N66K |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for GHRH |
| 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 GHRH |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for GHRH |
Top |
RelatedDrugs for GHRH |
| 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 GHRH |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| GHRH | C0005586 | Bipolar Disorder | 1 | PSYGENET |
| GHRH | C0034063 | Pulmonary Edema | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|