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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 PALM |
 Gene summary |
| Gene information | Gene symbol | PALM | Gene ID | 5064 |
| Gene name | paralemmin | |
| Synonyms | - | |
| Cytomap | 19p13.3 | |
| Type of gene | protein-coding | |
| Description | paralemmin-1 | |
| Modification date | 20180523 | |
| UniProtAcc | O75781 | |
| Context | PubMed: PALM [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 |
| PALM | GO:0007194 | negative regulation of adenylate cyclase activity | 16386234 |
| PALM | GO:0051491 | positive regulation of filopodium assembly | 14978216 |
| PALM | GO:0060160 | negative regulation of dopamine receptor signaling pathway | 16386234 |
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Exon skipping events across known transcript of Ensembl for PALM 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 PALM |
| 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 PALM |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_300207 | 19 | 727563:727694:731094:731245:734172:734194 | 731094:731245 | ENSG00000099864.13 | ENST00000338448.5,ENST00000264560.7,ENST00000589012.1,ENST00000592870.1 |
| exon_skip_300210 | 19 | 734172:734194:736018:736078:746284:746609 | 736018:736078 | ENSG00000099864.13 | ENST00000264560.7 |
| exon_skip_300212 | 19 | 736018:736078:740351:740483:746284:746373 | 740351:740483 | ENSG00000099864.13 | ENST00000338448.5,ENST00000593172.1,ENST00000592155.1,ENST00000587513.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for PALM |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_300207 | 19 | 727563:727694:731094:731245:734172:734194 | 731094:731245 | ENSG00000099864.13 | ENST00000264560.7,ENST00000592870.1,ENST00000338448.5,ENST00000589012.1 |
| exon_skip_300210 | 19 | 734172:734194:736018:736078:746284:746609 | 736018:736078 | ENSG00000099864.13 | ENST00000264560.7 |
| exon_skip_300212 | 19 | 736018:736078:740351:740483:746284:746373 | 740351:740483 | ENSG00000099864.13 | ENST00000338448.5,ENST00000593172.1,ENST00000592155.1,ENST00000587513.1 |
| 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 PALM |
| 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 |
| ENST00000338448 | 731094 | 731245 | Frame-shift |
| ENST00000338448 | 740351 | 740483 | 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 |
| ENST00000338448 | 731094 | 731245 | Frame-shift |
| ENST00000338448 | 740351 | 740483 | In-frame |
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Infer the effects of exon skipping event on protein functional features for PALM |
| 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 |
| ENST00000338448 | 2742 | 387 | 740351 | 740483 | 549 | 680 | 167 | 211 |
| 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 |
| ENST00000338448 | 2742 | 387 | 740351 | 740483 | 549 | 680 | 167 | 211 |
| 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 |
| O75781 | 167 | 211 | 168 | 211 | Alternative sequence | ID=VSP_003918;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:9615234,ECO:0000303|PubMed:9813098;Dbxref=PMID:9615234,PMID:9813098 |
| O75781 | 167 | 211 | 1 | 384 | Chain | ID=PRO_0000058218;Note=Paralemmin-1 |
| 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 |
| O75781 | 167 | 211 | 168 | 211 | Alternative sequence | ID=VSP_003918;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:9615234,ECO:0000303|PubMed:9813098;Dbxref=PMID:9615234,PMID:9813098 |
| O75781 | 167 | 211 | 1 | 384 | Chain | ID=PRO_0000058218;Note=Paralemmin-1 |
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SNVs in the skipped exons for PALM |
| - 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. |
PALM_UCS_exon_skip_300212_psi_boxplot.png |
| - 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-A1EG-01 | exon_skip_300207 | 731095 | 731245 | 731136 | 731136 | Frame_Shift_Del | C | - | p.A104fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_300207 | 731095 | 731245 | 731184 | 731184 | Frame_Shift_Del | C | - | p.A120fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_300207 | 731095 | 731245 | 731184 | 731184 | Frame_Shift_Del | C | - | p.A120fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_300207 | 731095 | 731245 | 731190 | 731190 | Frame_Shift_Del | C | - | p.A122fs |
| UCS | TCGA-NG-A4VU-01 | exon_skip_300212 | 740352 | 740483 | 740396 | 740396 | Frame_Shift_Del | G | - | p.G183fs |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-NG-A4VU-01 |
| Cancer type: UCS | |
| ESID: exon_skip_300212 | |
| Skipped exon start: 740352 | |
| Skipped exon end: 740483 | |
| Mutation start: 740396 | |
| Mutation end: 740396 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: G | |
| Mutation seq: - | |
| AAchange: p.G183fs | |
exon_skip_300212_UCS_TCGA-NG-A4VU-01.png | |
| - 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 |
| HEC59_ENDOMETRIUM | 731095 | 731245 | 731160 | 731160 | Missense_Mutation | C | T | p.A112V |
| MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 731095 | 731245 | 731181 | 731181 | Missense_Mutation | G | A | p.R119Q |
| NALM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 731095 | 731245 | 731243 | 731243 | Missense_Mutation | C | G | p.Q140E |
| NCIH2170_LUNG | 736019 | 736078 | 736033 | 736033 | Missense_Mutation | A | C | p.N153H |
| MOLT3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 736019 | 736078 | 736061 | 736061 | Missense_Mutation | C | T | p.S162F |
| SNU5_STOMACH | 740352 | 740483 | 740417 | 740417 | Missense_Mutation | A | G | p.S190G |
| HS936T_SKIN | 740352 | 740483 | 740453 | 740453 | Missense_Mutation | G | A | p.G202S |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PALM |
| 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 PALM |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PALM |
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RelatedDrugs for PALM |
| 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 PALM |
| 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)
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