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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 IPP |
 Gene summary |
| Gene information | Gene symbol | IPP | Gene ID | 3652 |
| Gene name | intracisternal A particle-promoted polypeptide | |
| Synonyms | KLHL27 | |
| Cytomap | 1p34.1 | |
| Type of gene | protein-coding | |
| Description | actin-binding protein IPPkelch-like family member 27kelch-like protein 27 | |
| Modification date | 20180522 | |
| UniProtAcc | Q9Y573 | |
| Context | PubMed: IPP [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 IPP 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 IPP |
| 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 IPP |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_26288 | 1 | 46159995:46160187:46165741:46165862:46179917:46179924 | 46165741:46165862 | ENSG00000197429.6 | ENST00000359942.4 |
| exon_skip_26292 | 1 | 46165741:46165862:46179917:46180138:46182566:46182689 | 46179917:46180138 | ENSG00000197429.6 | ENST00000359942.4,ENST00000396478.3 |
| exon_skip_26293 | 1 | 46182566:46182689:46184874:46185012:46193302:46193470 | 46184874:46185012 | ENSG00000197429.6 | ENST00000359942.4,ENST00000396478.3 |
| exon_skip_26297 | 1 | 46193302:46193470:46195285:46195441:46206572:46207004 | 46195285:46195441 | ENSG00000197429.6 | ENST00000359942.4,ENST00000396478.3 |
| exon_skip_26299 | 1 | 46206572:46207004:46211791:46212133:46216268:46216321 | 46211791:46212133 | ENSG00000197429.6 | ENST00000396478.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for IPP |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_26288 | 1 | 46159995:46160187:46165741:46165862:46179917:46179924 | 46165741:46165862 | ENSG00000197429.6 | ENST00000359942.4 |
| exon_skip_26292 | 1 | 46165741:46165862:46179917:46180138:46182566:46182689 | 46179917:46180138 | ENSG00000197429.6 | ENST00000359942.4,ENST00000396478.3 |
| exon_skip_26293 | 1 | 46182566:46182689:46184874:46185012:46193302:46193470 | 46184874:46185012 | ENSG00000197429.6 | ENST00000359942.4,ENST00000396478.3 |
| exon_skip_26299 | 1 | 46206572:46207004:46211791:46212133:46216268:46216321 | 46211791:46212133 | ENSG00000197429.6 | ENST00000396478.3 |
| 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 IPP |
| 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 |
| ENST00000396478 | 46211791 | 46212133 | 3UTR-3CDS |
| ENST00000396478 | 46179917 | 46180138 | Frame-shift |
| ENST00000396478 | 46184874 | 46185012 | In-frame |
| ENST00000396478 | 46195285 | 46195441 | 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 |
| ENST00000396478 | 46211791 | 46212133 | 3UTR-3CDS |
| ENST00000396478 | 46179917 | 46180138 | Frame-shift |
| ENST00000396478 | 46184874 | 46185012 | In-frame |
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Infer the effects of exon skipping event on protein functional features for IPP |
| 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 |
| ENST00000396478 | 3130 | 584 | 46195285 | 46195441 | 828 | 983 | 241 | 293 |
| ENST00000396478 | 3130 | 584 | 46184874 | 46185012 | 1152 | 1289 | 349 | 395 |
| 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 |
| ENST00000396478 | 3130 | 584 | 46184874 | 46185012 | 1152 | 1289 | 349 | 395 |
| 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 |
| Q9Y573 | 241 | 293 | 1 | 584 | Chain | ID=PRO_0000119075;Note=Actin-binding protein IPP |
| Q9Y573 | 241 | 293 | 264 | 264 | Natural variant | ID=VAR_050045;Note=K->R;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15489334,ECO:0000269|Ref.4;Dbxref=dbSNP:rs28375469,PMID:15489334 |
| Q9Y573 | 241 | 293 | 289 | 343 | Repeat | Note=Kelch 1 |
| Q9Y573 | 349 | 395 | 1 | 584 | Chain | ID=PRO_0000119075;Note=Actin-binding protein IPP |
| Q9Y573 | 349 | 395 | 344 | 390 | Repeat | Note=Kelch 2 |
| Q9Y573 | 349 | 395 | 391 | 437 | Repeat | Note=Kelch 3 |
| 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 |
| Q9Y573 | 349 | 395 | 1 | 584 | Chain | ID=PRO_0000119075;Note=Actin-binding protein IPP |
| Q9Y573 | 349 | 395 | 344 | 390 | Repeat | Note=Kelch 2 |
| Q9Y573 | 349 | 395 | 391 | 437 | Repeat | Note=Kelch 3 |
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SNVs in the skipped exons for IPP |
| - 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-BC-A3KG-01 | exon_skip_26292 | 46179918 | 46180138 | 46180083 | 46180083 | Frame_Shift_Del | A | - | p.F455fs |
| ESCA | TCGA-2H-A9GI-01 | exon_skip_26293 | 46184875 | 46185012 | 46184897 | 46184898 | Frame_Shift_Del | AC | - | p.C388fs |
| ESCA | TCGA-L5-A88Z-01 | exon_skip_26293 | 46184875 | 46185012 | 46184897 | 46184898 | Frame_Shift_Del | AC | - | p.C388fs |
| ESCA | TCGA-L5-A8NN-01 | exon_skip_26293 | 46184875 | 46185012 | 46184897 | 46184898 | Frame_Shift_Del | AC | - | p.C388fs |
| KIRP | TCGA-J7-8537-01 | exon_skip_26293 | 46184875 | 46185012 | 46184897 | 46184898 | Frame_Shift_Del | AC | - | p.C388fs |
| LGG | TCGA-P5-A733-01 | exon_skip_26293 | 46184875 | 46185012 | 46184897 | 46184898 | Frame_Shift_Del | AC | - | p.C388fs |
| LUAD | TCGA-38-7271-01 | exon_skip_26293 | 46184875 | 46185012 | 46184897 | 46184898 | Frame_Shift_Del | AC | - | p.C388fs |
| PAAD | TCGA-3A-A9IB-01 | exon_skip_26293 | 46184875 | 46185012 | 46184897 | 46184898 | Frame_Shift_Del | AC | - | p.C388fs |
| PAAD | TCGA-F2-A7TX-01 | exon_skip_26293 | 46184875 | 46185012 | 46184897 | 46184898 | Frame_Shift_Del | AC | - | p.C388fs |
| PAAD | TCGA-FB-A5VM-01 | exon_skip_26293 | 46184875 | 46185012 | 46184897 | 46184898 | Frame_Shift_Del | AC | - | p.C388fs |
| PAAD | TCGA-HV-A7OP-01 | exon_skip_26293 | 46184875 | 46185012 | 46184897 | 46184898 | Frame_Shift_Del | AC | - | p.C388fs |
| PAAD | TCGA-HZ-A4BH-01 | exon_skip_26293 | 46184875 | 46185012 | 46184897 | 46184898 | Frame_Shift_Del | AC | - | p.C388fs |
| PAAD | TCGA-IB-7651-01 | exon_skip_26293 | 46184875 | 46185012 | 46184897 | 46184898 | Frame_Shift_Del | AC | - | p.C388fs |
| PAAD | TCGA-IB-AAUP-01 | exon_skip_26293 | 46184875 | 46185012 | 46184897 | 46184898 | Frame_Shift_Del | AC | - | p.C388fs |
| PAAD | TCGA-IB-AAUU-01 | exon_skip_26293 | 46184875 | 46185012 | 46184897 | 46184898 | Frame_Shift_Del | AC | - | p.C388fs |
| SKCM | TCGA-GN-A4U8-06 | exon_skip_26293 | 46184875 | 46185012 | 46184897 | 46184898 | Frame_Shift_Del | AC | - | p.C388fs |
| SKCM | TCGA-Z2-A8RT-06 | exon_skip_26293 | 46184875 | 46185012 | 46184897 | 46184898 | Frame_Shift_Del | AC | - | p.C388fs |
| TGCT | TCGA-2G-AAHC-01 | exon_skip_26293 | 46184875 | 46185012 | 46184897 | 46184898 | Frame_Shift_Del | AC | - | p.C388fs |
| UCS | TCGA-NA-A4R0-01 | exon_skip_26293 | 46184875 | 46185012 | 46184897 | 46184898 | Frame_Shift_Del | AC | - | p.C388fs |
| UVM | TCGA-VD-AA8M-01 | exon_skip_26293 | 46184875 | 46185012 | 46184897 | 46184898 | Frame_Shift_Del | AC | - | p.C388fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_26299 | 46211792 | 46212133 | 46211898 | 46211898 | Frame_Shift_Del | A | - | p.F62fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_26299 | 46211792 | 46212133 | 46212005 | 46212005 | Frame_Shift_Del | T | - | p.I27fs |
| UCEC | TCGA-B5-A11H-01 | exon_skip_26293 | 46184875 | 46185012 | 46184896 | 46184897 | Frame_Shift_Ins | - | AC | p.Y388fs |
| ESCA | TCGA-2H-A9GQ-01 | exon_skip_26288 | 46165742 | 46165862 | 46165855 | 46165855 | Nonsense_Mutation | C | T | p.W513* |
| ESCA | TCGA-2H-A9GQ-01 | exon_skip_26288 | 46165742 | 46165862 | 46165855 | 46165855 | Nonsense_Mutation | C | T | p.W513X |
| LUAD | TCGA-17-Z017-01 | exon_skip_26292 | 46179918 | 46180138 | 46179938 | 46179938 | Nonsense_Mutation | C | A | p.E504* |
| SARC | TCGA-DX-A6YV-01 | exon_skip_26293 | 46184875 | 46185012 | 46184918 | 46184918 | Nonsense_Mutation | G | T | p.C381* |
| LUSC | TCGA-21-5782-01 | exon_skip_26299 | 46211792 | 46212133 | 46211819 | 46211819 | Nonsense_Mutation | G | A | p.Q89* |
| HNSC | TCGA-T2-A6WZ-01 | exon_skip_26299 | 46211792 | 46212133 | 46211901 | 46211901 | Nonsense_Mutation | G | T | p.Y61* |
| THYM | TCGA-XU-A933-01 | exon_skip_26299 | 46211792 | 46212133 | 46211966 | 46211966 | Nonsense_Mutation | G | A | p.Q40X |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-2H-A9GQ-01 |
| Cancer type: ESCA | |
| ESID: exon_skip_26288 | |
| Skipped exon start: 46165742 | |
| Skipped exon end: 46165862 | |
| Mutation start: 46165855 | |
| Mutation end: 46165855 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: C | |
| Mutation seq: T | |
| AAchange: p.W513X | |
| Sample: TCGA-2H-A9GQ-01 |
| Cancer type: ESCA | |
| ESID: exon_skip_26288 | |
| Skipped exon start: 46165742 | |
| Skipped exon end: 46165862 | |
| Mutation start: 46165855 | |
| Mutation end: 46165855 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: C | |
| Mutation seq: T | |
| AAchange: p.W513* | |
exon_skip_26288_ESCA_TCGA-2H-A9GQ-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 |
| MDAPCA2B_PROSTATE | 46179918 | 46180138 | 46179931 | 46179931 | Missense_Mutation | T | C | p.Y506C |
| PACADD137_PANCREAS | 46179918 | 46180138 | 46180090 | 46180090 | Missense_Mutation | C | T | p.R453H |
| NCIH1155_LUNG | 46179918 | 46180138 | 46180121 | 46180121 | Missense_Mutation | C | T | p.G443R |
| NCCSTCK140_STOMACH | 46184875 | 46185012 | 46184885 | 46184885 | Missense_Mutation | G | C | p.I392M |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 46184875 | 46185012 | 46184983 | 46184983 | Missense_Mutation | T | C | p.T360A |
| MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 46195286 | 46195441 | 46195338 | 46195338 | Missense_Mutation | C | A | p.Q276H |
| SNU81_LARGE_INTESTINE | 46195286 | 46195441 | 46195362 | 46195362 | Missense_Mutation | C | A | p.E268D |
| HCC2998_LARGE_INTESTINE | 46195286 | 46195441 | 46195427 | 46195427 | Missense_Mutation | T | C | p.N247D |
| SNU61_LARGE_INTESTINE | 46211792 | 46212133 | 46211929 | 46211929 | Missense_Mutation | C | T | p.R52Q |
| LIM1215_LARGE_INTESTINE | 46211792 | 46212133 | 46211995 | 46211995 | Missense_Mutation | A | T | p.M30K |
| DIPG007_CENTRAL_NERVOUS_SYSTEM | 46211792 | 46212133 | 46212040 | 46212040 | Missense_Mutation | G | A | p.S15L |
| H3118_UPPER_AERODIGESTIVE_TRACT | 46184875 | 46185012 | 46184882 | 46184882 | Nonsense_Mutation | A | T | p.Y393* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for IPP |
| 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 |
| exon_skip_26297 | 1 | 46193302:46193470:46195285:46195441:46206572:46207004 | 46195285:46195441 | ENST00000359942.4,ENST00000396478.3 | BLCA | rs28375469 | chr1:46195375 | T/C | 2.02e-03 |
| exon_skip_26297 | 1 | 46193302:46193470:46195285:46195441:46206572:46207004 | 46195285:46195441 | ENST00000359942.4,ENST00000396478.3 | BLCA | rs28375469 | chr1:46195375 | T/C | 2.02e-03 |
| exon_skip_26297 | 1 | 46193302:46193470:46195285:46195441:46206572:46207004 | 46195285:46195441 | ENST00000359942.4,ENST00000396478.3 | ESCA | rs28375469 | chr1:46195375 | T/C | 6.21e-04 |
| exon_skip_26297 | 1 | 46193302:46193470:46195285:46195441:46206572:46207004 | 46195285:46195441 | ENST00000359942.4,ENST00000396478.3 | ESCA | rs28375469 | chr1:46195375 | T/C | 6.21e-04 |
| exon_skip_26297 | 1 | 46193302:46193470:46195285:46195441:46206572:46207004 | 46195285:46195441 | ENST00000359942.4,ENST00000396478.3 | BRCA | rs28375469 | chr1:46195375 | T/C | 2.32e-05 |
| exon_skip_26297 | 1 | 46193302:46193470:46195285:46195441:46206572:46207004 | 46195285:46195441 | ENST00000359942.4,ENST00000396478.3 | BRCA | rs28375469 | chr1:46195375 | T/C | 2.33e-05 |
| exon_skip_26297 | 1 | 46193302:46193470:46195285:46195441:46206572:46207004 | 46195285:46195441 | ENST00000359942.4,ENST00000396478.3 | KIRC | rs28375469 | chr1:46195375 | T/C | 1.93e-03 |
| exon_skip_26297 | 1 | 46193302:46193470:46195285:46195441:46206572:46207004 | 46195285:46195441 | ENST00000359942.4,ENST00000396478.3 | KIRC | rs28375469 | chr1:46195375 | T/C | 1.93e-03 |
| exon_skip_26297 | 1 | 46193302:46193470:46195285:46195441:46206572:46207004 | 46195285:46195441 | ENST00000359942.4,ENST00000396478.3 | LUAD | rs28375469 | chr1:46195375 | T/C | 4.53e-04 |
| exon_skip_26297 | 1 | 46193302:46193470:46195285:46195441:46206572:46207004 | 46195285:46195441 | ENST00000359942.4,ENST00000396478.3 | LUAD | rs28375469 | chr1:46195375 | T/C | 4.54e-04 |
| exon_skip_26297 | 1 | 46193302:46193470:46195285:46195441:46206572:46207004 | 46195285:46195441 | ENST00000359942.4,ENST00000396478.3 | LUSC | rs28375469 | chr1:46195375 | T/C | 1.89e-05 |
| exon_skip_26297 | 1 | 46193302:46193470:46195285:46195441:46206572:46207004 | 46195285:46195441 | ENST00000359942.4,ENST00000396478.3 | LUSC | rs28375469 | chr1:46195375 | T/C | 1.89e-05 |
| exon_skip_26297 | 1 | 46193302:46193470:46195285:46195441:46206572:46207004 | 46195285:46195441 | ENST00000359942.4,ENST00000396478.3 | OV | rs28375469 | chr1:46195375 | T/C | 7.35e-06 |
| exon_skip_26297 | 1 | 46193302:46193470:46195285:46195441:46206572:46207004 | 46195285:46195441 | ENST00000359942.4,ENST00000396478.3 | OV | rs28375469 | chr1:46195375 | T/C | 7.35e-06 |
| exon_skip_26297 | 1 | 46193302:46193470:46195285:46195441:46206572:46207004 | 46195285:46195441 | ENST00000359942.4,ENST00000396478.3 | PRAD | rs28375469 | chr1:46195375 | T/C | 2.06e-03 |
| exon_skip_26297 | 1 | 46193302:46193470:46195285:46195441:46206572:46207004 | 46195285:46195441 | ENST00000359942.4,ENST00000396478.3 | PRAD | rs28375469 | chr1:46195375 | T/C | 2.07e-03 |
| exon_skip_26297 | 1 | 46193302:46193470:46195285:46195441:46206572:46207004 | 46195285:46195441 | ENST00000359942.4,ENST00000396478.3 | STAD | rs28375469 | chr1:46195375 | T/C | 1.62e-06 |
| exon_skip_26297 | 1 | 46193302:46193470:46195285:46195441:46206572:46207004 | 46195285:46195441 | ENST00000359942.4,ENST00000396478.3 | STAD | rs28375469 | chr1:46195375 | T/C | 1.62e-06 |
| exon_skip_26297 | 1 | 46193302:46193470:46195285:46195441:46206572:46207004 | 46195285:46195441 | ENST00000359942.4,ENST00000396478.3 | THCA | rs28375469 | chr1:46195375 | T/C | 7.95e-04 |
| exon_skip_26297 | 1 | 46193302:46193470:46195285:46195441:46206572:46207004 | 46195285:46195441 | ENST00000359942.4,ENST00000396478.3 | THCA | rs28375469 | chr1:46195375 | T/C | 7.95e-04 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for IPP |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for IPP |
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RelatedDrugs for IPP |
| 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 IPP |
| 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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