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Open reading frame (ORF) annotation in the exon skipping event | |
Splicing Quantitative Trait Loci (sQTLs) in the skipped exons | |
Splicing Quantitative Trait Methylation (sQTM) in the skipped exon | |
Gene summary for PRLR |
Gene summary |
Gene information | Gene symbol | PRLR | Gene ID | 5618 |
Gene name | prolactin receptor | |
Synonyms | HPRL|MFAB|RI-PRLR|hPRLrI | |
Cytomap | 5p13.2 | |
Type of gene | protein-coding | |
Description | prolactin receptorhPRL receptorsecreted prolactin binding protein | |
Modification date | 20180523 | |
UniProtAcc | P16471 | |
Context | PubMed: PRLR [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 |
PRLR | GO:0007171 | activation of transmembrane receptor protein tyrosine kinase activity | 10585417 |
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Exon skipping events across known transcript of Ensembl for PRLR 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 PRLR |
Expression levels of gene isoforms across TCGA. |
Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for PRLR |
Information of exkip skipping event in TCGA. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_441463 | 5 | 35048876:35049513:35066050:35066204:35068317:35068387 | 35066050:35066204 | ENSG00000113494.12 | ENST00000231423.3 |
exon_skip_441466 | 5 | 35068331:35068387:35068880:35068980:35070225:35070367 | 35068880:35068980 | ENSG00000113494.12 | ENST00000509140.1,ENST00000513753.1,ENST00000382002.5,ENST00000231423.3,ENST00000511486.1,ENST00000508107.1,ENST00000542609.1,ENST00000310101.5,ENST00000342362.5 |
exon_skip_441469 | 5 | 35070225:35070367:35072676:35072846:35084571:35084741 | 35072676:35072846 | ENSG00000113494.12 | ENST00000509140.1,ENST00000397391.3,ENST00000513753.1,ENST00000382002.5,ENST00000231423.3,ENST00000509934.1,ENST00000542609.1,ENST00000514088.1,ENST00000310101.5,ENST00000348262.3 |
exon_skip_441470 | 5 | 35070225:35070367:35072676:35072846:35089652:35089722 | 35072676:35072846 | ENSG00000113494.12 | ENST00000511486.1,ENST00000342362.5 |
exon_skip_441473 | 5 | 35072676:35072846:35084571:35084741:35089652:35089722 | 35084571:35084741 | ENSG00000113494.12 | ENST00000509140.1,ENST00000397391.3,ENST00000514088.1 |
exon_skip_441476 | 5 | 35084636:35084741:35086309:35086442:35089652:35089722 | 35086309:35086442 | ENSG00000113494.12 | ENST00000509839.1,ENST00000513753.1,ENST00000382002.5,ENST00000514206.1,ENST00000503330.1,ENST00000542609.1,ENST00000310101.5,ENST00000348262.3 |
exon_skip_441477 | 5 | 35089652:35089765:35118162:35118224:35230369:35230474 | 35118162:35118224 | ENSG00000113494.12 | ENST00000382002.5,ENST00000508107.1,ENST00000342362.5 |
exon_skip_441485 | 5 | 35118162:35118224:35152888:35153075:35230369:35230474 | 35152888:35153075 | ENSG00000113494.12 | ENST00000504500.1 |
exon_skip_441491 | 5 | 35118162:35118224:35195652:35195815:35230369:35230474 | 35195652:35195815 | ENSG00000113494.12 | ENST00000515839.1 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for PRLR |
Information of exkip skipping event in GTEx |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_441463 | 5 | 35048876:35049513:35066050:35066204:35068317:35068387 | 35066050:35066204 | ENSG00000113494.12 | ENST00000231423.3 |
exon_skip_441466 | 5 | 35068331:35068387:35068880:35068980:35070225:35070367 | 35068880:35068980 | ENSG00000113494.12 | ENST00000231423.3,ENST00000513753.1,ENST00000509140.1,ENST00000542609.1,ENST00000342362.5,ENST00000382002.5,ENST00000508107.1,ENST00000511486.1,ENST00000310101.5 |
exon_skip_441469 | 5 | 35070225:35070367:35072676:35072846:35084571:35084741 | 35072676:35072846 | ENSG00000113494.12 | ENST00000231423.3,ENST00000513753.1,ENST00000514088.1,ENST00000348262.3,ENST00000509140.1,ENST00000397391.3,ENST00000542609.1,ENST00000382002.5,ENST00000310101.5,ENST00000509934.1 |
exon_skip_441470 | 5 | 35070225:35070367:35072676:35072846:35089652:35089722 | 35072676:35072846 | ENSG00000113494.12 | ENST00000342362.5,ENST00000511486.1 |
exon_skip_441473 | 5 | 35072676:35072846:35084571:35084741:35089652:35089722 | 35084571:35084741 | ENSG00000113494.12 | ENST00000514088.1,ENST00000509140.1,ENST00000397391.3 |
exon_skip_441476 | 5 | 35084636:35084741:35086309:35086442:35089652:35089722 | 35086309:35086442 | ENSG00000113494.12 | ENST00000513753.1,ENST00000348262.3,ENST00000542609.1,ENST00000382002.5,ENST00000310101.5,ENST00000514206.1,ENST00000509839.1,ENST00000503330.1 |
exon_skip_441477 | 5 | 35089652:35089765:35118162:35118224:35230369:35230474 | 35118162:35118224 | ENSG00000113494.12 | ENST00000342362.5,ENST00000382002.5,ENST00000508107.1 |
exon_skip_441491 | 5 | 35118162:35118224:35195652:35195815:35230369:35230474 | 35195652:35195815 | ENSG00000113494.12 | ENST00000515839.1 |
PSI values of skipped exons in GTEx. |
* Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for PRLR |
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 PRLR |
Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
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 PRLR |
- Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
- 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-DD-A39Y-01 | exon_skip_441463 | 35066051 | 35066204 | 35066151 | 35066151 | Frame_Shift_Del | G | - | p.P303fs |
LIHC | TCGA-G3-A3CJ-01 | exon_skip_441466 | 35068881 | 35068980 | 35068933 | 35068933 | Frame_Shift_Del | A | - | p.S245fs |
UCEC | TCGA-AP-A0LH-01 | exon_skip_441473 | 35084572 | 35084741 | 35084688 | 35084689 | Frame_Shift_Ins | - | A | p.C86fs |
SKCM | TCGA-GN-A266-06 | exon_skip_441463 | 35066051 | 35066204 | 35066066 | 35066066 | Nonsense_Mutation | C | A | p.E332* |
SKCM | TCGA-GN-A266-06 | exon_skip_441463 | 35066051 | 35066204 | 35066066 | 35066066 | Nonsense_Mutation | C | A | p.E332X |
HNSC | TCGA-CQ-7071-01 | exon_skip_441463 | 35066051 | 35066204 | 35066071 | 35066071 | Nonsense_Mutation | G | C | p.S330* |
UCEC | TCGA-B5-A11E-01 | exon_skip_441463 | 35066051 | 35066204 | 35066123 | 35066123 | Nonsense_Mutation | C | A | p.E313* |
ESCA | TCGA-L5-A43H-01 | exon_skip_441470 exon_skip_441469 | 35072677 | 35072846 | 35072680 | 35072680 | Nonsense_Mutation | C | T | p.W180* |
ESCA | TCGA-L5-A43H-01 | exon_skip_441470 exon_skip_441469 | 35072677 | 35072846 | 35072680 | 35072680 | Nonsense_Mutation | C | T | p.W180X |
SKCM | TCGA-3N-A9WD-06 | exon_skip_441470 exon_skip_441469 | 35072677 | 35072846 | 35072709 | 35072709 | Nonsense_Mutation | G | A | p.R171* |
UCEC | TCGA-BS-A0UF-01 | exon_skip_441470 exon_skip_441469 | 35072677 | 35072846 | 35072709 | 35072709 | Nonsense_Mutation | G | A | p.R171* |
LUSC | TCGA-66-2727-01 | exon_skip_441476 | 35086310 | 35086442 | 35086375 | 35086375 | Nonsense_Mutation | G | T | p.C46* |
PAAD | TCGA-IB-7651-01 | exon_skip_441466 | 35068881 | 35068980 | 35068880 | 35068880 | Splice_Site | C | T | . |
SKCM | TCGA-IH-A3EA-01 | exon_skip_441476 | 35086310 | 35086442 | 35086443 | 35086443 | Splice_Site | C | G | . |
- 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 |
YD38_UPPER_AERODIGESTIVE_TRACT | 35066051 | 35066204 | 35066048 | 35066048 | Missense_Mutation | T | A | p.M338L |
MFE319_ENDOMETRIUM | 35066051 | 35066204 | 35066078 | 35066078 | Missense_Mutation | C | G | p.V328L |
NCIH2141_LUNG | 35066051 | 35066204 | 35066092 | 35066092 | Missense_Mutation | T | C | p.Q323R |
DU145_PROSTATE | 35068881 | 35068980 | 35068889 | 35068889 | Missense_Mutation | C | A | p.K259N |
SKES1_BONE | 35068881 | 35068980 | 35068908 | 35068908 | Missense_Mutation | A | G | p.V253A |
HCT15_LARGE_INTESTINE | 35068881 | 35068980 | 35068972 | 35068972 | Missense_Mutation | T | C | p.M232V |
J82_URINARY_TRACT | 35068881 | 35068980 | 35068972 | 35068972 | Missense_Mutation | T | C | p.M232V |
GMEL_SKIN | 35072677 | 35072846 | 35072718 | 35072718 | Missense_Mutation | A | G | p.Y168H |
TM87_SOFT_TISSUE | 35072677 | 35072846 | 35072796 | 35072796 | Missense_Mutation | C | A | p.D142Y |
ISTMEL1_SKIN | 35072677 | 35072846 | 35072832 | 35072832 | Missense_Mutation | G | A | p.P130S |
MEWO_SKIN | 35072677 | 35072846 | 35072832 | 35072832 | Missense_Mutation | G | A | p.P130S |
KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 35084572 | 35084741 | 35084686 | 35084686 | Missense_Mutation | G | T | p.H87N |
CCLFPEDS0008T_SOFT_TISSUE | 35084572 | 35084741 | 35084710 | 35084710 | Missense_Mutation | T | C | p.I79V |
HEC108_ENDOMETRIUM | 35084572 | 35084741 | 35084731 | 35084731 | Missense_Mutation | T | C | p.M72V |
NCIH460_LUNG | 35086310 | 35086442 | 35086361 | 35086361 | Missense_Mutation | C | A | p.G51V |
NCIH460_LUNG | 35086310 | 35086442 | 35086361 | 35086362 | Missense_Mutation | CC | AA | p.G51L |
NCIH460_LUNG | 35086310 | 35086442 | 35086362 | 35086362 | Missense_Mutation | C | A | p.G51W |
DMS153_LUNG | 35086310 | 35086442 | 35086433 | 35086433 | Missense_Mutation | G | T | p.P27H |
SARC9371_BONE | 35072677 | 35072846 | 35072680 | 35072680 | Nonsense_Mutation | C | T | p.W180* |
HT115_LARGE_INTESTINE | 35072677 | 35072846 | 35072709 | 35072709 | Nonsense_Mutation | G | A | p.R171* |
NCIH2030_LUNG | 35068881 | 35068980 | 35068881 | 35068881 | Splice_Site | C | A | p.S262I |
LNCAPCLONEFGC_PROSTATE | 35068881 | 35068980 | 35068882 | 35068882 | Splice_Site | T | C | p.S262G |
MDST8_LARGE_INTESTINE | 35084572 | 35084741 | 35084740 | 35084740 | Splice_Site | C | T | p.E69K |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PRLR |
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 PRLR |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PRLR |
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RelatedDrugs for PRLR |
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 |
P16471 | DB01185 | Fluoxymesterone | Prolactin receptor | small molecule | approved|illicit | |
P16471 | DB00052 | Somatotropin | Prolactin receptor | biotech | approved|investigational |
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RelatedDiseases for PRLR |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |
PRLR | C0024667 | Animal Mammary Neoplasms | 2 | CTD_human |
PRLR | C0000786 | Spontaneous abortion | 1 | CTD_human |
PRLR | C0004352 | Autistic Disorder | 1 | CTD_human |
PRLR | C0014175 | Endometriosis | 1 | CTD_human |
PRLR | C0020514 | Hyperprolactinemia | 1 | HPO;ORPHANET;UNIPROT |
PRLR | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
PRLR | C0024668 | Mammary Neoplasms, Experimental | 1 | CTD_human |
PRLR | C3809918 | MULTIPLE FIBROADENOMAS OF THE BREAST | 1 | ORPHANET;UNIPROT |