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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 SYNPO |
 Gene summary |
| Gene information | Gene symbol | SYNPO | Gene ID | 11346 |
| Gene name | synaptopodin | |
| Synonyms | - | |
| Cytomap | 5q33.1 | |
| Type of gene | protein-coding | |
| Description | synaptopodin | |
| Modification date | 20180523 | |
| UniProtAcc | Q8N3V7 | |
| Context | PubMed: SYNPO [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 |
| SYNPO | GO:0098886 | modification of dendritic spine | 25164660 |
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Exon skipping events across known transcript of Ensembl for SYNPO 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 SYNPO |
| 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 SYNPO |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_438858 | 5 | 150020239:150020416:150027505:150029865:150035965:150038782 | 150027505:150029865 | ENSG00000171992.8 | ENST00000307662.4 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for SYNPO |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_438858 | 5 | 150020239:150020416:150027505:150029865:150035965:150038782 | 150027505:150029865 | ENSG00000171992.8 | ENST00000307662.4 |
| 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 SYNPO |
| 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 |
| 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 SYNPO |
| 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 SYNPO |
| - 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 |
| KIRP | TCGA-DZ-6132-01 | exon_skip_438858 | 150027506 | 150029865 | 150027927 | 150027927 | Frame_Shift_Del | A | - | p.L274fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_438858 | 150027506 | 150029865 | 150028049 | 150028049 | Frame_Shift_Del | A | - | p.Q315fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_438858 | 150027506 | 150029865 | 150028531 | 150028531 | Frame_Shift_Del | C | - | p.P477fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_438858 | 150027506 | 150029865 | 150028531 | 150028531 | Frame_Shift_Del | C | - | p.P477fs |
| STAD | TCGA-HU-A4G8-01 | exon_skip_438858 | 150027506 | 150029865 | 150028582 | 150028582 | Frame_Shift_Del | G | - | p.P492fs |
| UCEC | TCGA-D1-A17D-01 | exon_skip_438858 | 150027506 | 150029865 | 150028582 | 150028582 | Frame_Shift_Del | G | - | p.G493fs |
| COAD | TCGA-D5-6930-01 | exon_skip_438858 | 150027506 | 150029865 | 150028657 | 150028657 | Frame_Shift_Del | C | - | p.Q517fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_438858 | 150027506 | 150029865 | 150028657 | 150028657 | Frame_Shift_Del | C | - | p.P519fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_438858 | 150027506 | 150029865 | 150028706 | 150028706 | Frame_Shift_Del | C | - | p.S534fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_438858 | 150027506 | 150029865 | 150029494 | 150029494 | Frame_Shift_Del | G | - | p.G797fs |
| UCEC | TCGA-BG-A0MQ-01 | exon_skip_438858 | 150027506 | 150029865 | 150029714 | 150029714 | Frame_Shift_Del | C | - | p.S870fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_438858 | 150027506 | 150029865 | 150029819 | 150029819 | Frame_Shift_Del | C | - | p.A905fs |
| LIHC | TCGA-BC-A112-01 | exon_skip_438858 | 150027506 | 150029865 | 150028233 | 150028234 | Frame_Shift_Ins | - | A | p.T377fs |
| STAD | TCGA-CG-5728-01 | exon_skip_438858 | 150027506 | 150029865 | 150028881 | 150028882 | Frame_Shift_Ins | - | C | p.D592fs |
| LIHC | TCGA-BC-A112-01 | exon_skip_438858 | 150027506 | 150029865 | 150028928 | 150028929 | Frame_Shift_Ins | - | G | p.R608fs |
| COAD | TCGA-CK-5915-01 | exon_skip_438858 | 150027506 | 150029865 | 150028961 | 150028962 | Frame_Shift_Ins | - | C | p.G619fs |
| LUSC | TCGA-66-2785-01 | exon_skip_438858 | 150027506 | 150029865 | 150028853 | 150028853 | Nonsense_Mutation | C | G | p.S583* |
| HNSC | TCGA-HD-8314-01 | exon_skip_438858 | 150027506 | 150029865 | 150029326 | 150029326 | Nonsense_Mutation | G | T | p.E741* |
| - 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 |
| CW2_LARGE_INTESTINE | 150027506 | 150029865 | 150029819 | 150029819 | Frame_Shift_Del | C | - | p.A905fs |
| F36P_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 150027506 | 150029865 | 150028726 | 150028728 | In_Frame_Del | AGG | - | p.R542del |
| TOV21G_OVARY | 150027506 | 150029865 | 150027559 | 150027559 | Missense_Mutation | C | T | p.R152W |
| WIL2NS_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 150027506 | 150029865 | 150027574 | 150027574 | Missense_Mutation | G | T | p.A157S |
| PWR1E_PROSTATE | 150027506 | 150029865 | 150027589 | 150027589 | Missense_Mutation | A | C | p.T162P |
| CL34_LARGE_INTESTINE | 150027506 | 150029865 | 150027635 | 150027635 | Missense_Mutation | G | A | p.R177H |
| KARPAS1106P_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 150027506 | 150029865 | 150027673 | 150027673 | Missense_Mutation | G | A | p.G190S |
| MHHNB11_AUTONOMIC_GANGLIA | 150027506 | 150029865 | 150027854 | 150027854 | Missense_Mutation | A | G | p.E250G |
| HEC6_ENDOMETRIUM | 150027506 | 150029865 | 150027889 | 150027889 | Missense_Mutation | G | A | p.A262T |
| TGBC1TKB_BILIARY_TRACT | 150027506 | 150029865 | 150027941 | 150027941 | Missense_Mutation | C | A | p.A279E |
| ISHIKAWAHERAKLIO02ER_ENDOMETRIUM | 150027506 | 150029865 | 150027944 | 150027944 | Missense_Mutation | T | C | p.L280P |
| SBC5_LUNG | 150027506 | 150029865 | 150027980 | 150027980 | Missense_Mutation | G | A | p.R292Q |
| RPMI8866_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 150027506 | 150029865 | 150027980 | 150027980 | Missense_Mutation | G | A | p.R292Q |
| HCT15_LARGE_INTESTINE | 150027506 | 150029865 | 150028043 | 150028043 | Missense_Mutation | T | A | p.V313D |
| NCIH2804_PLEURA | 150027506 | 150029865 | 150028217 | 150028217 | Missense_Mutation | G | A | p.G371D |
| VMCUB1_URINARY_TRACT | 150027506 | 150029865 | 150028244 | 150028244 | Missense_Mutation | C | T | p.T380I |
| P31FUJ_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 150027506 | 150029865 | 150028244 | 150028244 | Missense_Mutation | C | T | p.T380I |
| OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 150027506 | 150029865 | 150028296 | 150028296 | Missense_Mutation | C | A | p.S397R |
| HCC2450_LUNG | 150027506 | 150029865 | 150028596 | 150028596 | Missense_Mutation | G | T | p.Q497H |
| HCC2450_LUNG | 150027506 | 150029865 | 150028602 | 150028602 | Missense_Mutation | G | C | p.E499D |
| MKN45_STOMACH | 150027506 | 150029865 | 150028733 | 150028733 | Missense_Mutation | T | C | p.M543T |
| NCIH847_LUNG | 150027506 | 150029865 | 150028790 | 150028790 | Missense_Mutation | C | T | p.P562L |
| CW2_LARGE_INTESTINE | 150027506 | 150029865 | 150028820 | 150028820 | Missense_Mutation | C | T | p.A572V |
| NCC010_KIDNEY | 150027506 | 150029865 | 150028856 | 150028856 | Missense_Mutation | A | G | p.Y584C |
| HCC1359_LUNG | 150027506 | 150029865 | 150028861 | 150028861 | Missense_Mutation | G | T | p.V586F |
| SW684_SOFT_TISSUE | 150027506 | 150029865 | 150028871 | 150028871 | Missense_Mutation | C | T | p.P589L |
| NCIH748_LUNG | 150027506 | 150029865 | 150028895 | 150028895 | Missense_Mutation | A | C | p.H597P |
| ISHIKAWAHERAKLIO02ER_ENDOMETRIUM | 150027506 | 150029865 | 150028957 | 150028957 | Missense_Mutation | C | T | p.R618W |
| OVMIU_OVARY | 150027506 | 150029865 | 150028967 | 150028967 | Missense_Mutation | G | C | p.R621P |
| CP66MEL_SKIN | 150027506 | 150029865 | 150028973 | 150028973 | Missense_Mutation | C | T | p.S623F |
| KYSE270_OESOPHAGUS | 150027506 | 150029865 | 150029008 | 150029008 | Missense_Mutation | C | T | p.P635S |
| SKMEL2_SKIN | 150027506 | 150029865 | 150029026 | 150029026 | Missense_Mutation | G | A | p.D641N |
| CAMA1_BREAST | 150027506 | 150029865 | 150029049 | 150029049 | Missense_Mutation | G | C | p.E648D |
| HCT15_LARGE_INTESTINE | 150027506 | 150029865 | 150029101 | 150029101 | Missense_Mutation | G | A | p.A666T |
| PC3_PROSTATE | 150027506 | 150029865 | 150029130 | 150029130 | Missense_Mutation | G | C | p.Q675H |
| PC3JPC3_LUNG | 150027506 | 150029865 | 150029130 | 150029130 | Missense_Mutation | G | C | p.Q675H |
| UMUC6_URINARY_TRACT | 150027506 | 150029865 | 150029276 | 150029276 | Missense_Mutation | G | A | p.G724E |
| FTC238_THYROID | 150027506 | 150029865 | 150029293 | 150029293 | Missense_Mutation | C | T | p.R730C |
| NCIH1930_LUNG | 150027506 | 150029865 | 150029357 | 150029357 | Missense_Mutation | G | T | p.R751L |
| BB30PBL_MATCHED_NORMAL_TISSUE | 150027506 | 150029865 | 150029449 | 150029449 | Missense_Mutation | C | T | p.R782W |
| SNUC5_LARGE_INTESTINE | 150027506 | 150029865 | 150029498 | 150029498 | Missense_Mutation | T | C | p.V798A |
| SUDHL6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 150027506 | 150029865 | 150029504 | 150029504 | Missense_Mutation | G | C | p.R800P |
| HCC2450_LUNG | 150027506 | 150029865 | 150029662 | 150029662 | Missense_Mutation | C | T | p.P853S |
| SISO_CERVIX | 150027506 | 150029865 | 150029690 | 150029690 | Missense_Mutation | G | A | p.R862H |
| GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 150027506 | 150029865 | 150029690 | 150029690 | Missense_Mutation | G | A | p.R862H |
| EVSAT_BREAST | 150027506 | 150029865 | 150029755 | 150029755 | Missense_Mutation | C | T | p.P884S |
| EVSAT_BREAST | 150027506 | 150029865 | 150029806 | 150029806 | Missense_Mutation | C | G | p.R901G |
| RKO_LARGE_INTESTINE | 150027506 | 150029865 | 150029131 | 150029131 | Nonsense_Mutation | C | T | p.Q676* |
| KM12_LARGE_INTESTINE | 150027506 | 150029865 | 150029798 | 150029798 | Nonsense_Mutation | G | A | p.W898* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SYNPO |
| 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 SYNPO |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SYNPO |
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RelatedDrugs for SYNPO |
| 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 SYNPO |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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