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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 PKHD1L1 |
 Gene summary |
| Gene information | Gene symbol | PKHD1L1 | Gene ID | 93035 |
| Gene name | PKHD1 like 1 | |
| Synonyms | PKHDL1 | |
| Cytomap | 8q23.1-q23.2 | |
| Type of gene | protein-coding | |
| Description | fibrocystin-LPKHD1-like protein 1polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1polycystic kidney and hepatic disease 1-like protein 1polycystic kidney and hepatic disease-like 1 | |
| Modification date | 20180523 | |
| UniProtAcc | Q86WI1 | |
| Context | PubMed: PKHD1L1 [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 PKHD1L1 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 PKHD1L1 |
| 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 PKHD1L1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_485666 | 8 | 110376775:110376865:110393598:110393743:110394691:110394800 | 110393598:110393743 | ENSG00000205038.7 | ENST00000378402.5 |
| exon_skip_485668 | 8 | 110400725:110400779:110401307:110401381:110402680:110402723 | 110401307:110401381 | ENSG00000205038.7 | ENST00000378402.5 |
| exon_skip_485669 | 8 | 110420277:110420435:110422093:110422207:110424493:110424643 | 110422093:110422207 | ENSG00000205038.7 | ENST00000378402.5 |
| exon_skip_485670 | 8 | 110424493:110424643:110425649:110425774:110431325:110431489 | 110425649:110425774 | ENSG00000205038.7 | ENST00000378402.5 |
| exon_skip_485671 | 8 | 110432746:110432919:110437313:110437461:110439230:110439385 | 110437313:110437461 | ENSG00000205038.7 | ENST00000378402.5 |
| exon_skip_485674 | 8 | 110437313:110437461:110439230:110439385:110441568:110441691 | 110439230:110439385 | ENSG00000205038.7 | ENST00000378402.5 |
| exon_skip_485675 | 8 | 110487346:110487498:110488736:110488896:110489453:110489625 | 110488736:110488896 | ENSG00000205038.7 | ENST00000378402.5 |
| exon_skip_485690 | 8 | 110535461:110535615:110539012:110539249:110542308:110542489 | 110539012:110539249 | ENSG00000205038.7 | ENST00000378402.5,ENST00000526472.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for PKHD1L1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_485666 | 8 | 110376775:110376865:110393598:110393743:110394691:110394800 | 110393598:110393743 | ENSG00000205038.7 | ENST00000378402.5 |
| exon_skip_485668 | 8 | 110400725:110400779:110401307:110401381:110402680:110402723 | 110401307:110401381 | ENSG00000205038.7 | ENST00000378402.5 |
| exon_skip_485669 | 8 | 110420277:110420435:110422093:110422207:110424493:110424643 | 110422093:110422207 | ENSG00000205038.7 | ENST00000378402.5 |
| exon_skip_485670 | 8 | 110424493:110424643:110425649:110425774:110431325:110431489 | 110425649:110425774 | ENSG00000205038.7 | ENST00000378402.5 |
| exon_skip_485671 | 8 | 110432746:110432919:110437313:110437461:110439230:110439385 | 110437313:110437461 | ENSG00000205038.7 | ENST00000378402.5 |
| exon_skip_485674 | 8 | 110437313:110437461:110439230:110439385:110441568:110441691 | 110439230:110439385 | ENSG00000205038.7 | ENST00000378402.5 |
| exon_skip_485675 | 8 | 110487346:110487498:110488736:110488896:110489453:110489625 | 110488736:110488896 | ENSG00000205038.7 | ENST00000378402.5 |
| exon_skip_485690 | 8 | 110535461:110535615:110539012:110539249:110542308:110542489 | 110539012:110539249 | ENSG00000205038.7 | ENST00000378402.5,ENST00000526472.1 |
| 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 PKHD1L1 |
| 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 |
| ENST00000378402 | 110393598 | 110393743 | Frame-shift |
| ENST00000378402 | 110401307 | 110401381 | Frame-shift |
| ENST00000378402 | 110425649 | 110425774 | Frame-shift |
| ENST00000378402 | 110437313 | 110437461 | Frame-shift |
| ENST00000378402 | 110439230 | 110439385 | Frame-shift |
| ENST00000378402 | 110488736 | 110488896 | Frame-shift |
| ENST00000378402 | 110422093 | 110422207 | In-frame |
| ENST00000378402 | 110539012 | 110539249 | 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 |
| ENST00000378402 | 110393598 | 110393743 | Frame-shift |
| ENST00000378402 | 110401307 | 110401381 | Frame-shift |
| ENST00000378402 | 110425649 | 110425774 | Frame-shift |
| ENST00000378402 | 110437313 | 110437461 | Frame-shift |
| ENST00000378402 | 110439230 | 110439385 | Frame-shift |
| ENST00000378402 | 110488736 | 110488896 | Frame-shift |
| ENST00000378402 | 110422093 | 110422207 | In-frame |
| ENST00000378402 | 110539012 | 110539249 | In-frame |
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Infer the effects of exon skipping event on protein functional features for PKHD1L1 |
| 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 |
| ENST00000378402 | 13093 | 4243 | 110422093 | 110422207 | 2076 | 2189 | 657 | 695 |
| ENST00000378402 | 13093 | 4243 | 110539012 | 110539249 | 12589 | 12825 | 4161 | 4240 |
| 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 |
| ENST00000378402 | 13093 | 4243 | 110422093 | 110422207 | 2076 | 2189 | 657 | 695 |
| ENST00000378402 | 13093 | 4243 | 110539012 | 110539249 | 12589 | 12825 | 4161 | 4240 |
| 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 |
| Q86WI1 | 657 | 695 | 21 | 4243 | Chain | ID=PRO_0000318572;Note=Fibrocystin-L |
| Q86WI1 | 657 | 695 | 21 | 4210 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q86WI1 | 4161 | 4240 | 21 | 4243 | Chain | ID=PRO_0000318572;Note=Fibrocystin-L |
| Q86WI1 | 4161 | 4240 | 4188 | 4200 | Compositional bias | Note=Poly-Ser |
| Q86WI1 | 4161 | 4240 | 4220 | 4220 | Natural variant | ID=VAR_038774;Note=V->I;Dbxref=dbSNP:rs1783174 |
| Q86WI1 | 4161 | 4240 | 21 | 4210 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q86WI1 | 4161 | 4240 | 4232 | 4243 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q86WI1 | 4161 | 4240 | 4211 | 4231 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| 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 |
| Q86WI1 | 657 | 695 | 21 | 4243 | Chain | ID=PRO_0000318572;Note=Fibrocystin-L |
| Q86WI1 | 657 | 695 | 21 | 4210 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q86WI1 | 4161 | 4240 | 21 | 4243 | Chain | ID=PRO_0000318572;Note=Fibrocystin-L |
| Q86WI1 | 4161 | 4240 | 4188 | 4200 | Compositional bias | Note=Poly-Ser |
| Q86WI1 | 4161 | 4240 | 4220 | 4220 | Natural variant | ID=VAR_038774;Note=V->I;Dbxref=dbSNP:rs1783174 |
| Q86WI1 | 4161 | 4240 | 21 | 4210 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q86WI1 | 4161 | 4240 | 4232 | 4243 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q86WI1 | 4161 | 4240 | 4211 | 4231 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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SNVs in the skipped exons for PKHD1L1 |
| - 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 |
| SKCM | TCGA-EE-A20C-06 | exon_skip_485666 | 110393599 | 110393743 | 110393720 | 110393729 | Frame_Shift_Del | AACTCAAATT | - | p.STQI95fs |
| LIHC | TCGA-DD-A3A9-01 | exon_skip_485668 | 110401308 | 110401381 | 110401347 | 110401347 | Frame_Shift_Del | T | - | p.G221fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_485669 | 110422094 | 110422207 | 110422198 | 110422198 | Frame_Shift_Del | T | - | p.D692fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_485671 | 110437314 | 110437461 | 110437376 | 110437376 | Frame_Shift_Del | A | - | p.S920fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_485674 | 110439231 | 110439385 | 110439367 | 110439367 | Frame_Shift_Del | A | - | p.G994fs |
| HNSC | TCGA-HD-A633-01 | exon_skip_485669 | 110422094 | 110422207 | 110422190 | 110422190 | Nonsense_Mutation | G | T | p.E690* |
| UCEC | TCGA-A5-A0GB-01 | exon_skip_485674 | 110439231 | 110439385 | 110439284 | 110439284 | Nonsense_Mutation | G | T | p.E967* |
| SKCM | TCGA-FW-A3R5-06 | exon_skip_485674 | 110439231 | 110439385 | 110439352 | 110439352 | Nonsense_Mutation | G | A | p.W989* |
| SKCM | TCGA-FW-A3R5-06 | exon_skip_485674 | 110439231 | 110439385 | 110439352 | 110439352 | Nonsense_Mutation | G | A | p.W989X |
| KIRP | TCGA-B1-A654-01 | exon_skip_485675 | 110488737 | 110488896 | 110488892 | 110488892 | Nonsense_Mutation | C | G | p.Y2971* |
| UCEC | TCGA-BS-A0UV-01 | exon_skip_485690 | 110539013 | 110539249 | 110539060 | 110539060 | Nonsense_Mutation | G | T | p.E4178* |
| LIHC | TCGA-FV-A495-01 | exon_skip_485690 | 110539013 | 110539249 | 110539189 | 110539189 | Nonsense_Mutation | G | T | p.G4221* |
| LIHC | TCGA-FV-A495-01 | exon_skip_485690 | 110539013 | 110539249 | 110539189 | 110539189 | Nonsense_Mutation | G | T | p.G4221X |
| HNSC | TCGA-CV-5442-01 | exon_skip_485668 | 110401308 | 110401381 | 110401306 | 110401306 | Splice_Site | A | T | p.L208_splice |
| SKCM | TCGA-EE-A3J8-06 | exon_skip_485668 | 110401308 | 110401381 | 110401307 | 110401307 | Splice_Site | G | C | . |
| - 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 | 110437314 | 110437461 | 110437331 | 110437332 | Frame_Shift_Del | AG | - | p.E906fs |
| MDAMB468_BREAST | 110393599 | 110393743 | 110393735 | 110393735 | Missense_Mutation | C | G | p.C100W |
| LNCAPCLONEFGC_PROSTATE | 110401308 | 110401381 | 110401313 | 110401313 | Missense_Mutation | G | C | p.G210A |
| SNU81_LARGE_INTESTINE | 110401308 | 110401381 | 110401330 | 110401330 | Missense_Mutation | C | T | p.P216S |
| HCC2998_LARGE_INTESTINE | 110401308 | 110401381 | 110401349 | 110401349 | Missense_Mutation | C | A | p.S222Y |
| SNU81_LARGE_INTESTINE | 110401308 | 110401381 | 110401376 | 110401376 | Missense_Mutation | T | G | p.F231C |
| OSC20_UPPER_AERODIGESTIVE_TRACT | 110422094 | 110422207 | 110422196 | 110422196 | Missense_Mutation | G | C | p.D692H |
| SNU1041_UPPER_AERODIGESTIVE_TRACT | 110425650 | 110425774 | 110425653 | 110425653 | Missense_Mutation | T | C | p.C747R |
| NCIH1092_LUNG | 110425650 | 110425774 | 110425731 | 110425731 | Missense_Mutation | A | G | p.S773G |
| DMS454_LUNG | 110425650 | 110425774 | 110425732 | 110425732 | Missense_Mutation | G | T | p.S773I |
| SW684_SOFT_TISSUE | 110437314 | 110437461 | 110437383 | 110437383 | Missense_Mutation | C | T | p.H923Y |
| NCIH508_LARGE_INTESTINE | 110437314 | 110437461 | 110437393 | 110437393 | Missense_Mutation | G | T | p.R926I |
| CAMA1_BREAST | 110437314 | 110437461 | 110437398 | 110437398 | Missense_Mutation | C | G | p.Q928E |
| FU97_STOMACH | 110437314 | 110437461 | 110437456 | 110437456 | Missense_Mutation | T | G | p.L947R |
| MCF7_BREAST | 110439231 | 110439385 | 110439270 | 110439270 | Missense_Mutation | C | G | p.A962G |
| SW982_SOFT_TISSUE | 110439231 | 110439385 | 110439293 | 110439293 | Missense_Mutation | G | A | p.G970R |
| MFE296_ENDOMETRIUM | 110439231 | 110439385 | 110439340 | 110439340 | Missense_Mutation | G | T | p.W985C |
| TE617T_SOFT_TISSUE | 110439231 | 110439385 | 110439365 | 110439365 | Missense_Mutation | G | A | p.G994R |
| NCIH526_LUNG | 110488737 | 110488896 | 110488782 | 110488782 | Missense_Mutation | G | A | p.D2935N |
| DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 110488737 | 110488896 | 110488880 | 110488880 | Missense_Mutation | T | A | p.S2967R |
| MDST8_LARGE_INTESTINE | 110539013 | 110539249 | 110539060 | 110539060 | Missense_Mutation | G | A | p.E4178K |
| NCIH510_LUNG | 110539013 | 110539249 | 110539236 | 110539236 | Missense_Mutation | G | C | p.L4236F |
| 59M_OVARY | 110437314 | 110437461 | 110437392 | 110437392 | Nonsense_Mutation | A | T | p.R926* |
| NCIH1623_LUNG | 110439231 | 110439385 | 110439311 | 110439311 | Nonsense_Mutation | C | T | p.R976* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PKHD1L1 |
| 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 PKHD1L1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PKHD1L1 |
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RelatedDrugs for PKHD1L1 |
| 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 PKHD1L1 |
| 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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