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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 CALCA |
 Gene summary |
| Gene information | Gene symbol | CALCA | Gene ID | 796 |
| Gene name | calcitonin related polypeptide alpha | |
| Synonyms | CALC1|CGRP|CGRP-I|CGRP1|CT|KC|PCT | |
| Cytomap | 11p15.2 | |
| Type of gene | protein-coding | |
| Description | calcitonincalcitonin gene-related peptide 1alpha-type CGRPcalcitonin 1calcitonin gene-related peptide Icalcitonin/calcitonin-related polypeptide, alphakatacalcin | |
| Modification date | 20180519 | |
| UniProtAcc | P06881 | |
| Context | PubMed: CALCA [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 |
| CALCA | GO:0002548 | monocyte chemotaxis | 15248232 |
| CALCA | GO:0007189 | adenylate cyclase-activating G-protein coupled receptor signaling pathway | 8078488|11014233 |
| CALCA | GO:0007204 | positive regulation of cytosolic calcium ion concentration | 17983652 |
| CALCA | GO:0007566 | embryo implantation | 17983652 |
| CALCA | GO:0032147 | activation of protein kinase activity | 17983652 |
| CALCA | GO:0045779 | negative regulation of bone resorption | 17241109 |
| CALCA | GO:0045892 | negative regulation of transcription, DNA-templated | 11014233 |
| CALCA | GO:0051482 | positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway | 8078488 |
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Exon skipping events across known transcript of Ensembl for CALCA 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 CALCA |
| 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 CALCA |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_69405 | 11 | 14989373:14989400:14990371:14990543:14991480:14991562 | 14990371:14990543 | ENSG00000110680.8 | ENST00000469608.1,ENST00000359642.3 |
| exon_skip_69407 | 11 | 14989373:14989400:14991480:14991621:14992652:14992747 | 14991480:14991621 | ENSG00000110680.8 | ENST00000361010.3 |
| exon_skip_69409 | 11 | 14990371:14990543:14991480:14991621:14992652:14992747 | 14991480:14991621 | ENSG00000110680.8 | ENST00000331587.4,ENST00000469608.1,ENST00000396372.2,ENST00000359642.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for CALCA |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_69405 | 11 | 14989373:14989400:14990371:14990543:14991480:14991562 | 14990371:14990543 | ENSG00000110680.8 | ENST00000469608.1,ENST00000359642.3 |
| 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 CALCA |
| 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 |
| ENST00000331587 | 14991480 | 14991621 | In-frame |
| ENST00000396372 | 14991480 | 14991621 | In-frame |
| ENST00000361010 | 14991480 | 14991621 | 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 |
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Infer the effects of exon skipping event on protein functional features for CALCA |
| 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 |
| ENST00000331587 | 860 | 128 | 14991480 | 14991621 | 206 | 346 | 29 | 75 |
| ENST00000396372 | 598 | 128 | 14991480 | 14991621 | 149 | 289 | 29 | 75 |
| ENST00000361010 | 933 | 128 | 14991480 | 14991621 | 162 | 302 | 29 | 75 |
| 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 |
| P06881 | 29 | 75 | 57 | 57 | Natural variant | ID=VAR_048584;Note=D->N;Dbxref=dbSNP:rs5239 |
| P06881 | 29 | 75 | 57 | 57 | Natural variant | ID=VAR_048584;Note=D->N;Dbxref=dbSNP:rs5239 |
| P06881 | 29 | 75 | 57 | 57 | Natural variant | ID=VAR_048584;Note=D->N;Dbxref=dbSNP:rs5239 |
| P06881 | 29 | 75 | 26 | 80 | Propeptide | ID=PRO_0000004053 |
| P06881 | 29 | 75 | 26 | 80 | Propeptide | ID=PRO_0000004053 |
| P06881 | 29 | 75 | 26 | 80 | Propeptide | ID=PRO_0000004053 |
| 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 CALCA |
| - 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-G3-A3CJ-01 | exon_skip_69407 exon_skip_69409 | 14991481 | 14991621 | 14991538 | 14991538 | Frame_Shift_Del | T | - | p.N57fs |
| STAD | TCGA-CG-5723-01 | exon_skip_69407 exon_skip_69409 | 14991481 | 14991621 | 14991488 | 14991489 | Frame_Shift_Ins | - | CT | p.G74fs |
| STAD | TCGA-CG-5723-01 | exon_skip_69407 exon_skip_69409 | 14991481 | 14991621 | 14991489 | 14991490 | Frame_Shift_Ins | - | CT | p.E73fs |
| - 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 |
| SNU520_STOMACH | 14991481 | 14991621 | 14991505 | 14991505 | Missense_Mutation | T | A | p.Q68L |
| L82_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 14991481 | 14991621 | 14991570 | 14991570 | Missense_Mutation | T | G | p.E46D |
| NCIH23_LUNG | 14991481 | 14991621 | 14991586 | 14991586 | Missense_Mutation | G | T | p.T41K |
| PCI38_UPPER_AERODIGESTIVE_TRACT | 14991481 | 14991621 | 14991602 | 14991602 | Missense_Mutation | G | T | p.P36T |
| TE12_OESOPHAGUS | 14991481 | 14991621 | 14991613 | 14991613 | Missense_Mutation | A | T | p.L32Q |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CALCA |
| 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 CALCA |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CALCA |
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RelatedDrugs for CALCA |
| 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 |
| P06881 | DB14042 | Galcanezumab | Calcitonin gene-related peptide 1 | biotech | approved|investigational |
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RelatedDiseases for CALCA |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| CALCA | C0020429 | Hyperalgesia | 4 | CTD_human |
| CALCA | C0007370 | Catalepsy | 3 | CTD_human |
| CALCA | C0020437 | Hypercalcemia | 2 | CTD_human |
| CALCA | C0020538 | Hypertensive disease | 2 | CTD_human |
| CALCA | C0085129 | Bronchial Hyperreactivity | 2 | CTD_human |
| CALCA | C0149931 | Migraine Disorders | 2 | CTD_human |
| CALCA | C0338480 | Common Migraine | 2 | CTD_human |
| CALCA | C0424295 | Hyperactive behavior | 2 | CTD_human |
| CALCA | C0001973 | Alcoholic Intoxication, Chronic | 1 | PSYGENET |
| CALCA | C0004352 | Autistic Disorder | 1 | CTD_human |
| CALCA | C0005586 | Bipolar Disorder | 1 | PSYGENET |
| CALCA | C0013080 | Down Syndrome | 1 | CTD_human |
| CALCA | C0013604 | Edema | 1 | CTD_human |
| CALCA | C0020542 | Pulmonary Hypertension | 1 | CTD_human |
| CALCA | C0021368 | Inflammation | 1 | CTD_human |
| CALCA | C0029408 | Degenerative polyarthritis | 1 | CTD_human |
| CALCA | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
| CALCA | C0034069 | Pulmonary Fibrosis | 1 | CTD_human |
| CALCA | C0040997 | Trigeminal Neuralgia | 1 | CTD_human |
| CALCA | C0149940 | Sciatic Neuropathy | 1 | CTD_human |
| CALCA | C0344315 | Depressed mood | 1 | PSYGENET |
| CALCA | C0600467 | Neurogenic Inflammation | 1 | CTD_human |
| CALCA | C0993582 | Arthritis, Experimental | 1 | CTD_human |
| CALCA | C3714756 | Intellectual Disability | 1 | CTD_human |
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