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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 PDLIM7 |
 Gene summary |
| Gene information | Gene symbol | PDLIM7 | Gene ID | 9260 |
| Gene name | PDZ and LIM domain 7 | |
| Synonyms | LMP1|LMP3 | |
| Cytomap | 5q35.3 | |
| Type of gene | protein-coding | |
| Description | PDZ and LIM domain protein 71110003B01RikLIM domain proteinLMPLim mineralization protein 3PDZ and LIM domain 7 (enigma)protein enigma | |
| Modification date | 20180519 | |
| UniProtAcc | Q9NR12 | |
| Context | PubMed: PDLIM7 [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 |
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Exon skipping events across known transcript of Ensembl for PDLIM7 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 PDLIM7 |
| 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 PDLIM7 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_446592 | 5 | 176911070:176911191:176915068:176915249:176916393:176916628 | 176915068:176915249 | ENSG00000196923.9 | ENST00000493815.1,ENST00000486828.2,ENST00000355841.2,ENST00000359895.2,ENST00000356618.4 |
| exon_skip_446595 | 5 | 176915068:176915249:176916393:176916628:176917870:176917907 | 176916393:176916628 | ENSG00000196923.9 | ENST00000393551.1,ENST00000356618.4 |
| exon_skip_446599 | 5 | 176916393:176916628:176916771:176916833:176917870:176917907 | 176916771:176916833 | ENSG00000196923.9 | ENST00000493815.1,ENST00000355841.2,ENST00000359895.2 |
| exon_skip_446605 | 5 | 176916393:176916628:176916771:176917032:176917870:176917907 | 176916771:176917032 | ENSG00000196923.9 | ENST00000486828.2 |
| exon_skip_446606 | 5 | 176916393:176916628:176917870:176917907:176918010:176918147 | 176917870:176917907 | ENSG00000196923.9 | ENST00000393551.1,ENST00000356618.4 |
| exon_skip_446609 | 5 | 176916771:176916833:176917870:176917907:176918010:176918147 | 176917870:176917907 | ENSG00000196923.9 | ENST00000493815.1,ENST00000355841.2,ENST00000359895.2 |
| exon_skip_446618 | 5 | 176918096:176918147:176918404:176918421:176918807:176918834 | 176918404:176918421 | ENSG00000196923.9 | ENST00000493815.1,ENST00000503827.1 |
| exon_skip_446619 | 5 | 176918096:176918147:176918404:176918421:176919405:176919436 | 176918404:176918421 | ENSG00000196923.9 | ENST00000359895.2 |
| exon_skip_446622 | 5 | 176918096:176918147:176918807:176918926:176919405:176919436 | 176918807:176918926 | ENSG00000196923.9 | ENST00000506161.1,ENST00000486828.2,ENST00000355572.2,ENST00000503346.1,ENST00000393551.1,ENST00000355841.2,ENST00000505074.1,ENST00000356618.4 |
| exon_skip_446623 | 5 | 176918096:176918147:176918807:176918977:176919405:176919436 | 176918807:176918977 | ENSG00000196923.9 | ENST00000393546.4 |
| exon_skip_446627 | 5 | 176918404:176918421:176918807:176918926:176919405:176919436 | 176918807:176918926 | ENSG00000196923.9 | ENST00000493815.1 |
| exon_skip_446628 | 5 | 176918404:176918421:176918807:176918977:176919405:176919436 | 176918807:176918977 | ENSG00000196923.9 | ENST00000504318.1 |
| exon_skip_446629 | 5 | 176918404:176918421:176918807:176918996:176919405:176919436 | 176918807:176918996 | ENSG00000196923.9 | ENST00000503827.1 |
| exon_skip_446631 | 5 | 176919526:176919678:176923417:176923524:176924528:176924562 | 176923417:176923524 | ENSG00000196923.9 | ENST00000463411.1,ENST00000486828.2,ENST00000355572.2,ENST00000393551.1,ENST00000355841.2,ENST00000359895.2,ENST00000505074.1,ENST00000356618.4,ENST00000393546.4 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for PDLIM7 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_446592 | 5 | 176911070:176911191:176915068:176915249:176916393:176916628 | 176915068:176915249 | ENSG00000196923.9 | ENST00000493815.1,ENST00000359895.2,ENST00000356618.4,ENST00000355841.2,ENST00000486828.2 |
| exon_skip_446595 | 5 | 176915068:176915249:176916393:176916628:176917870:176917907 | 176916393:176916628 | ENSG00000196923.9 | ENST00000356618.4,ENST00000393551.1 |
| exon_skip_446599 | 5 | 176916393:176916628:176916771:176916833:176917870:176917907 | 176916771:176916833 | ENSG00000196923.9 | ENST00000493815.1,ENST00000359895.2,ENST00000355841.2 |
| exon_skip_446605 | 5 | 176916393:176916628:176916771:176917032:176917870:176917907 | 176916771:176917032 | ENSG00000196923.9 | ENST00000486828.2 |
| exon_skip_446606 | 5 | 176916393:176916628:176917870:176917907:176918010:176918147 | 176917870:176917907 | ENSG00000196923.9 | ENST00000356618.4,ENST00000393551.1 |
| exon_skip_446609 | 5 | 176916771:176916833:176917870:176917907:176918010:176918147 | 176917870:176917907 | ENSG00000196923.9 | ENST00000493815.1,ENST00000359895.2,ENST00000355841.2 |
| exon_skip_446618 | 5 | 176918096:176918147:176918404:176918421:176918807:176918834 | 176918404:176918421 | ENSG00000196923.9 | ENST00000493815.1,ENST00000503827.1 |
| exon_skip_446619 | 5 | 176918096:176918147:176918404:176918421:176919405:176919436 | 176918404:176918421 | ENSG00000196923.9 | ENST00000359895.2 |
| exon_skip_446622 | 5 | 176918096:176918147:176918807:176918926:176919405:176919436 | 176918807:176918926 | ENSG00000196923.9 | ENST00000356618.4,ENST00000355841.2,ENST00000486828.2,ENST00000393551.1,ENST00000505074.1,ENST00000355572.2,ENST00000506161.1,ENST00000503346.1 |
| exon_skip_446623 | 5 | 176918096:176918147:176918807:176918977:176919405:176919436 | 176918807:176918977 | ENSG00000196923.9 | ENST00000393546.4 |
| exon_skip_446627 | 5 | 176918404:176918421:176918807:176918926:176919405:176919436 | 176918807:176918926 | ENSG00000196923.9 | ENST00000493815.1 |
| exon_skip_446628 | 5 | 176918404:176918421:176918807:176918977:176919405:176919436 | 176918807:176918977 | ENSG00000196923.9 | ENST00000504318.1 |
| exon_skip_446629 | 5 | 176918404:176918421:176918807:176918996:176919405:176919436 | 176918807:176918996 | ENSG00000196923.9 | ENST00000503827.1 |
| exon_skip_446631 | 5 | 176919526:176919678:176923417:176923524:176924528:176924562 | 176923417:176923524 | ENSG00000196923.9 | ENST00000359895.2,ENST00000356618.4,ENST00000355841.2,ENST00000486828.2,ENST00000393551.1,ENST00000505074.1,ENST00000355572.2,ENST00000393546.4,ENST00000463411.1 |
| 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 PDLIM7 |
| 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 |
| ENST00000355841 | 176923417 | 176923524 | 3UTR-3CDS |
| ENST00000355841 | 176915068 | 176915249 | Frame-shift |
| ENST00000355841 | 176916771 | 176916833 | Frame-shift |
| ENST00000355841 | 176917870 | 176917907 | Frame-shift |
| ENST00000355841 | 176918807 | 176918926 | 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 |
| ENST00000355841 | 176923417 | 176923524 | 3UTR-3CDS |
| ENST00000355841 | 176915068 | 176915249 | Frame-shift |
| ENST00000355841 | 176916771 | 176916833 | Frame-shift |
| ENST00000355841 | 176917870 | 176917907 | Frame-shift |
| ENST00000355841 | 176918807 | 176918926 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for PDLIM7 |
| 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 |
| 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 |
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SNVs in the skipped exons for PDLIM7 |
| - 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. |
PDLIM7_HNSC_exon_skip_446595_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 |
| HNSC | TCGA-F7-A624-01 | exon_skip_446595 | 176916394 | 176916628 | 176916445 | 176916445 | Frame_Shift_Del | C | - | p.G273fs |
| UCEC | TCGA-D1-A17H-01 | exon_skip_446606 exon_skip_446609 | 176917871 | 176917907 | 176917869 | 176917869 | Splice_Site | A | G | e6+2 |
| UCEC | TCGA-D1-A17H-01 | exon_skip_446606 exon_skip_446609 | 176917871 | 176917907 | 176917869 | 176917869 | Splice_Site | A | G | p.S191_splice |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-F7-A624-01 |
| Cancer type: HNSC | |
| ESID: exon_skip_446595 | |
| Skipped exon start: 176916394 | |
| Skipped exon end: 176916628 | |
| Mutation start: 176916445 | |
| Mutation end: 176916445 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: C | |
| Mutation seq: - | |
| AAchange: p.G273fs | |
exon_skip_309996_HNSC_TCGA-F7-A624-01.png | |
exon_skip_331095_HNSC_TCGA-F7-A624-01.png | |
exon_skip_347690_HNSC_TCGA-F7-A624-01.png | |
exon_skip_372624_HNSC_TCGA-F7-A624-01.png | |
exon_skip_374468_HNSC_TCGA-F7-A624-01.png | |
exon_skip_374469_HNSC_TCGA-F7-A624-01.png | |
exon_skip_446595_HNSC_TCGA-F7-A624-01.png | |
exon_skip_75357_HNSC_TCGA-F7-A624-01.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 |
| SNUC2A_LARGE_INTESTINE | 176916394 | 176916628 | 176916445 | 176916445 | Frame_Shift_Del | C | - | p.G273fs |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 176915069 | 176915249 | 176915112 | 176915112 | Missense_Mutation | C | T | p.R336H |
| MM383_SKIN | 176915069 | 176915249 | 176915232 | 176915232 | Missense_Mutation | G | A | p.A296V |
| LP1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 176916394 | 176916628 | 176916551 | 176916551 | Missense_Mutation | T | C | p.K238E |
| IGR1_SKIN | 176916394 | 176916628 | 176916625 | 176916625 | Missense_Mutation | G | A | p.P213L |
| U2OS_BONE | 176916772 | 176916833 | 176916796 | 176916796 | Missense_Mutation | A | G | p.S204P |
| U2OS_BONE | 176916772 | 176917032 | 176916796 | 176916796 | Missense_Mutation | A | G | p.S204P |
| NB1_AUTONOMIC_GANGLIA | 176916772 | 176916833 | 176916821 | 176916821 | Missense_Mutation | C | A | p.R195S |
| NB1_AUTONOMIC_GANGLIA | 176916772 | 176917032 | 176916821 | 176916821 | Missense_Mutation | C | A | p.R195S |
| HEC151_ENDOMETRIUM | 176916772 | 176916833 | 176916829 | 176916829 | Missense_Mutation | C | T | p.V193M |
| HEC151_ENDOMETRIUM | 176916772 | 176917032 | 176916829 | 176916829 | Missense_Mutation | C | T | p.V193M |
| SKLU1_LUNG | 176917871 | 176917907 | 176917880 | 176917880 | Missense_Mutation | T | C | p.K188R |
| HEC251_ENDOMETRIUM | 176918808 | 176918996 | 176918829 | 176918829 | Missense_Mutation | T | C | p.D126G |
| HEC251_ENDOMETRIUM | 176918808 | 176918977 | 176918829 | 176918829 | Missense_Mutation | T | C | p.D126G |
| HEC251_ENDOMETRIUM | 176918808 | 176918926 | 176918829 | 176918829 | Missense_Mutation | T | C | p.D126G |
| MFE319_ENDOMETRIUM | 176918808 | 176918996 | 176918854 | 176918854 | Missense_Mutation | G | A | p.P118S |
| MFE319_ENDOMETRIUM | 176918808 | 176918977 | 176918854 | 176918854 | Missense_Mutation | G | A | p.P118S |
| MFE319_ENDOMETRIUM | 176918808 | 176918926 | 176918854 | 176918854 | Missense_Mutation | G | A | p.P118S |
| YD15_SALIVARY_GLAND | 176918808 | 176918996 | 176918904 | 176918904 | Missense_Mutation | G | A | p.P101L |
| YD15_SALIVARY_GLAND | 176918808 | 176918977 | 176918904 | 176918904 | Missense_Mutation | G | A | p.P101L |
| YD15_SALIVARY_GLAND | 176918808 | 176918926 | 176918904 | 176918904 | Missense_Mutation | G | A | p.P101L |
| NCIH1734_LUNG | 176923418 | 176923524 | 176923489 | 176923489 | Nonsense_Mutation | C | A | p.E9* |
| MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 176915069 | 176915249 | 176915069 | 176915069 | Splice_Site | G | A | p.G350G |
| NCIH1703_LUNG | 176917871 | 176917907 | 176917907 | 176917907 | Splice_Site | A | C | p.M179R |
| HCC1599_BREAST | 176923418 | 176923524 | 176923419 | 176923419 | Splice_Site | C | T | p.R32Q |
| HCC1599_MATCHED_NORMAL_TISSUE | 176923418 | 176923524 | 176923419 | 176923419 | Splice_Site | C | T | p.R32Q |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PDLIM7 |
| 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 PDLIM7 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PDLIM7 |
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RelatedDrugs for PDLIM7 |
| 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 PDLIM7 |
| 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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