|
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 PTPRZ1 |
Gene summary |
Gene information | Gene symbol | PTPRZ1 | Gene ID | 5803 |
Gene name | protein tyrosine phosphatase, receptor type Z1 | |
Synonyms | HPTPZ|HPTPzeta|PTP-ZETA|PTP18|PTPRZ|PTPZ|R-PTP-zeta-2|RPTPB|RPTPbeta|phosphacan | |
Cytomap | 7q31.32 | |
Type of gene | protein-coding | |
Description | receptor-type tyrosine-protein phosphatase zetaprotein tyrosine phosphatase, receptor-type, Z polypeptide 1protein tyrosine phosphatase, receptor-type, zeta polypeptide 1protein-tyrosine phosphatase receptor type Z polypeptide 2receptor-type tyrosine | |
Modification date | 20180519 | |
UniProtAcc | P23471 | |
Context | PubMed: PTPRZ1 [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 |
Top |
Exon skipping events across known transcript of Ensembl for PTPRZ1 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. |
Top |
Gene isoform structures and expression levels for PTPRZ1 |
Expression levels of gene isoforms across TCGA. |
Expression levels of gene isoforms across GTEx. |
Top |
Exon skipping events with PSIs in TCGA for PTPRZ1 |
Information of exkip skipping event in TCGA. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_470873 | 7 | 121513592:121513611:121568209:121568275:121608004:121608184 | 121568209:121568275 | ENSG00000106278.7 | ENST00000449182.1 |
exon_skip_470879 | 7 | 121568209:121568275:121608004:121608184:121612594:121612746 | 121608004:121608184 | ENSG00000106278.7 | ENST00000393386.2,ENST00000449182.1 |
exon_skip_470880 | 7 | 121616838:121616905:121623718:121623876:121624020:121624171 | 121623718:121623876 | ENSG00000106278.7 | ENST00000393386.2,ENST00000449182.1 |
exon_skip_470881 | 7 | 121637933:121638060:121644667:121644714:121650387:121651363 | 121644667:121644714 | ENSG00000106278.7 | ENST00000393386.2,ENST00000449182.1 |
exon_skip_470906 | 7 | 121651261:121651363:121659177:121659322:121668605:121668697 | 121659177:121659322 | ENSG00000106278.7 | ENST00000449182.1 |
exon_skip_470912 | 7 | 121671527:121671613:121674148:121674169:121674335:121674394 | 121674148:121674169 | ENSG00000106278.7 | ENST00000393386.2 |
exon_skip_470913 | 7 | 121674335:121674432:121676653:121676736:121678808:121678943 | 121676653:121676736 | ENSG00000106278.7 | ENST00000393386.2,ENST00000449182.1,ENST00000470504.1 |
exon_skip_470914 | 7 | 121676653:121676736:121678808:121678943:121679507:121679638 | 121678808:121678943 | ENSG00000106278.7 | ENST00000393386.2,ENST00000449182.1,ENST00000470504.1 |
exon_skip_470919 | 7 | 121693963:121694092:121694994:121695141:121698853:121698996 | 121694994:121695141 | ENSG00000106278.7 | ENST00000393386.2,ENST00000449182.1 |
exon_skip_470920 | 7 | 121694994:121695141:121698853:121698996:121699806:121699942 | 121698853:121698996 | ENSG00000106278.7 | ENST00000393386.2,ENST00000449182.1 |
PSI values of skipped exons in TCGA. |
Top |
Exon skipping events with PSIs in GTEx for PTPRZ1 |
Information of exkip skipping event in GTEx |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_470873 | 7 | 121513592:121513611:121568209:121568275:121608004:121608184 | 121568209:121568275 | ENSG00000106278.7 | ENST00000449182.1 |
exon_skip_470879 | 7 | 121568209:121568275:121608004:121608184:121612594:121612746 | 121608004:121608184 | ENSG00000106278.7 | ENST00000393386.2,ENST00000449182.1 |
exon_skip_470880 | 7 | 121616838:121616905:121623718:121623876:121624020:121624171 | 121623718:121623876 | ENSG00000106278.7 | ENST00000393386.2,ENST00000449182.1 |
exon_skip_470906 | 7 | 121651261:121651363:121659177:121659322:121668605:121668697 | 121659177:121659322 | ENSG00000106278.7 | ENST00000449182.1 |
exon_skip_470912 | 7 | 121671527:121671613:121674148:121674169:121674335:121674394 | 121674148:121674169 | ENSG00000106278.7 | ENST00000393386.2 |
exon_skip_470913 | 7 | 121674335:121674432:121676653:121676736:121678808:121678943 | 121676653:121676736 | ENSG00000106278.7 | ENST00000393386.2,ENST00000449182.1,ENST00000470504.1 |
exon_skip_470914 | 7 | 121676653:121676736:121678808:121678943:121679507:121679638 | 121678808:121678943 | ENSG00000106278.7 | ENST00000393386.2,ENST00000449182.1,ENST00000470504.1 |
exon_skip_470920 | 7 | 121694994:121695141:121698853:121698996:121699806:121699942 | 121698853:121698996 | ENSG00000106278.7 | ENST00000393386.2,ENST00000449182.1 |
PSI values of skipped exons in GTEx. |
* Skipped exon sequences. |
Top |
Open reading frame (ORF) annotation in the exon skipping event for PTPRZ1 |
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 |
ENST00000393386 | 121623718 | 121623876 | Frame-shift |
ENST00000393386 | 121644667 | 121644714 | Frame-shift |
ENST00000393386 | 121676653 | 121676736 | Frame-shift |
ENST00000393386 | 121698853 | 121698996 | Frame-shift |
ENST00000393386 | 121608004 | 121608184 | In-frame |
ENST00000393386 | 121674148 | 121674169 | In-frame |
ENST00000393386 | 121678808 | 121678943 | In-frame |
ENST00000393386 | 121694994 | 121695141 | 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 |
ENST00000393386 | 121623718 | 121623876 | Frame-shift |
ENST00000393386 | 121676653 | 121676736 | Frame-shift |
ENST00000393386 | 121698853 | 121698996 | Frame-shift |
ENST00000393386 | 121608004 | 121608184 | In-frame |
ENST00000393386 | 121674148 | 121674169 | In-frame |
ENST00000393386 | 121678808 | 121678943 | In-frame |
Top |
Infer the effects of exon skipping event on protein functional features for PTPRZ1 |
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 |
ENST00000393386 | 8192 | 2315 | 121608004 | 121608184 | 536 | 715 | 41 | 101 |
ENST00000393386 | 8192 | 2315 | 121678808 | 121678943 | 5779 | 5913 | 1789 | 1834 |
ENST00000393386 | 8192 | 2315 | 121694994 | 121695141 | 6793 | 6939 | 2127 | 2176 |
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 |
ENST00000393386 | 8192 | 2315 | 121608004 | 121608184 | 536 | 715 | 41 | 101 |
ENST00000393386 | 8192 | 2315 | 121678808 | 121678943 | 5779 | 5913 | 1789 | 1834 |
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 |
P23471 | 41 | 101 | 40 | 42 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3JXF |
P23471 | 41 | 101 | 58 | 60 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3JXF |
P23471 | 41 | 101 | 71 | 73 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3JXF |
P23471 | 41 | 101 | 78 | 84 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3JXF |
P23471 | 41 | 101 | 94 | 97 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3JXF |
P23471 | 41 | 101 | 25 | 2315 | Chain | ID=PRO_0000025468;Note=Receptor-type tyrosine-protein phosphatase zeta |
P23471 | 41 | 101 | 56 | 240 | Disulfide bond | Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20133774;Dbxref=PMID:20133774 |
P23471 | 41 | 101 | 36 | 300 | Domain | Note=Alpha-carbonic anhydrase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01134 |
P23471 | 41 | 101 | 46 | 48 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3JXF |
P23471 | 41 | 101 | 49 | 52 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3JXF |
P23471 | 41 | 101 | 54 | 57 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3JXF |
P23471 | 41 | 101 | 68 | 70 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3JXF |
P23471 | 41 | 101 | 25 | 1636 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
P23471 | 1789 | 1834 | 1781 | 1790 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5AWX |
P23471 | 1789 | 1834 | 1793 | 1800 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5AWX |
P23471 | 1789 | 1834 | 1822 | 1825 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5AWX |
P23471 | 1789 | 1834 | 1829 | 1831 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5AWX |
P23471 | 1789 | 1834 | 25 | 2315 | Chain | ID=PRO_0000025468;Note=Receptor-type tyrosine-protein phosphatase zeta |
P23471 | 1789 | 1834 | 1717 | 1992 | Domain | Note=Tyrosine-protein phosphatase 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00160 |
P23471 | 1789 | 1834 | 1805 | 1807 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5AWX |
P23471 | 1789 | 1834 | 1808 | 1817 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5AWX |
P23471 | 1789 | 1834 | 1663 | 2315 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
P23471 | 2127 | 2176 | 25 | 2315 | Chain | ID=PRO_0000025468;Note=Receptor-type tyrosine-protein phosphatase zeta |
P23471 | 2127 | 2176 | 2023 | 2282 | Domain | Note=Tyrosine-protein phosphatase 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00160 |
P23471 | 2127 | 2176 | 1663 | 2315 | Topological domain | Note=Cytoplasmic;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 |
P23471 | 41 | 101 | 40 | 42 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3JXF |
P23471 | 41 | 101 | 58 | 60 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3JXF |
P23471 | 41 | 101 | 71 | 73 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3JXF |
P23471 | 41 | 101 | 78 | 84 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3JXF |
P23471 | 41 | 101 | 94 | 97 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3JXF |
P23471 | 41 | 101 | 25 | 2315 | Chain | ID=PRO_0000025468;Note=Receptor-type tyrosine-protein phosphatase zeta |
P23471 | 41 | 101 | 56 | 240 | Disulfide bond | Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20133774;Dbxref=PMID:20133774 |
P23471 | 41 | 101 | 36 | 300 | Domain | Note=Alpha-carbonic anhydrase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01134 |
P23471 | 41 | 101 | 46 | 48 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3JXF |
P23471 | 41 | 101 | 49 | 52 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3JXF |
P23471 | 41 | 101 | 54 | 57 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3JXF |
P23471 | 41 | 101 | 68 | 70 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3JXF |
P23471 | 41 | 101 | 25 | 1636 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
P23471 | 1789 | 1834 | 1781 | 1790 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5AWX |
P23471 | 1789 | 1834 | 1793 | 1800 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5AWX |
P23471 | 1789 | 1834 | 1822 | 1825 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5AWX |
P23471 | 1789 | 1834 | 1829 | 1831 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5AWX |
P23471 | 1789 | 1834 | 25 | 2315 | Chain | ID=PRO_0000025468;Note=Receptor-type tyrosine-protein phosphatase zeta |
P23471 | 1789 | 1834 | 1717 | 1992 | Domain | Note=Tyrosine-protein phosphatase 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00160 |
P23471 | 1789 | 1834 | 1805 | 1807 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5AWX |
P23471 | 1789 | 1834 | 1808 | 1817 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5AWX |
P23471 | 1789 | 1834 | 1663 | 2315 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
Top |
SNVs in the skipped exons for PTPRZ1 |
- 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 |
COAD | TCGA-AM-5820-01 | exon_skip_470879 | 121608005 | 121608184 | 121608017 | 121608017 | Frame_Shift_Del | A | - | p.Q46fs |
LIHC | TCGA-G3-A3CJ-01 | exon_skip_470879 | 121608005 | 121608184 | 121608017 | 121608017 | Frame_Shift_Del | A | - | p.Q46fs |
LIHC | TCGA-DD-A3A0-01 | exon_skip_470879 | 121608005 | 121608184 | 121608139 | 121608139 | Frame_Shift_Del | A | - | p.K87fs |
LIHC | TCGA-G3-A3CJ-01 | exon_skip_470880 | 121623719 | 121623876 | 121623788 | 121623788 | Frame_Shift_Del | T | - | p.I230fs |
STAD | TCGA-HU-A4G8-01 | exon_skip_470912 | 121674149 | 121674169 | 121674154 | 121674157 | Frame_Shift_Del | GAAA | - | p.1724_1725del |
STAD | TCGA-HU-A4G8-01 | exon_skip_470912 | 121674149 | 121674169 | 121674154 | 121674157 | Frame_Shift_Del | GAAA | - | p.L1724fs |
LIHC | TCGA-G3-A3CJ-01 | exon_skip_470914 | 121678809 | 121678943 | 121678935 | 121678935 | Frame_Shift_Del | A | - | p.K1832fs |
LIHC | TCGA-DD-A1EG-01 | exon_skip_470919 | 121694995 | 121695141 | 121695101 | 121695101 | Frame_Shift_Del | A | - | p.E2163fs |
LIHC | TCGA-G3-A3CJ-01 | exon_skip_470920 | 121698854 | 121698996 | 121698876 | 121698876 | Frame_Shift_Del | G | - | p.R2184fs |
LGG | TCGA-CS-6670-01 | exon_skip_470906 | 121659178 | 121659322 | 121659248 | 121659249 | Frame_Shift_Ins | - | A | p.T1639fs |
HNSC | TCGA-D6-6516-01 | exon_skip_470919 | 121694995 | 121695141 | 121695040 | 121695041 | Frame_Shift_Ins | - | AT | p.L2143fs |
HNSC | TCGA-D6-6516-01 | exon_skip_470919 | 121694995 | 121695141 | 121695040 | 121695041 | Frame_Shift_Ins | - | AT | p.N2143fs |
HNSC | TCGA-P3-A6T4-01 | exon_skip_470880 | 121623719 | 121623876 | 121623770 | 121623770 | Nonsense_Mutation | C | G | p.S224* |
CESC | TCGA-DR-A0ZM-01 | exon_skip_470906 | 121659178 | 121659322 | 121659177 | 121659177 | Splice_Site | G | C | e13-1 |
THYM | TCGA-XU-A933-01 | exon_skip_470914 | 121678809 | 121678943 | 121678944 | 121678944 | Splice_Site | G | T | . |
- 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 |
DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 121608005 | 121608184 | 121608017 | 121608017 | Frame_Shift_Del | A | - | p.Q46fs |
SNU1_STOMACH | 121608005 | 121608184 | 121608016 | 121608017 | Frame_Shift_Ins | - | A | p.Q46fs |
LN215_CENTRAL_NERVOUS_SYSTEM | 121623719 | 121623876 | 121623809 | 121623811 | In_Frame_Del | CTC | - | p.P239del |
HT115_LARGE_INTESTINE | 121608005 | 121608184 | 121608033 | 121608033 | Missense_Mutation | G | T | p.K51N |
DMS79_LUNG | 121608005 | 121608184 | 121608085 | 121608085 | Missense_Mutation | G | A | p.D69N |
NCIH1299_LUNG | 121608005 | 121608184 | 121608096 | 121608096 | Missense_Mutation | A | T | p.Q72H |
JSC1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 121608005 | 121608184 | 121608130 | 121608130 | Missense_Mutation | G | A | p.G84S |
SUDHL10_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 121623719 | 121623876 | 121623736 | 121623736 | Missense_Mutation | G | T | p.D213Y |
GP2D_LARGE_INTESTINE | 121623719 | 121623876 | 121623744 | 121623744 | Missense_Mutation | C | G | p.F215L |
GP5D_LARGE_INTESTINE | 121623719 | 121623876 | 121623744 | 121623744 | Missense_Mutation | C | G | p.F215L |
SNU1040_LARGE_INTESTINE | 121623719 | 121623876 | 121623853 | 121623853 | Missense_Mutation | A | G | p.T252A |
NCIH2126_LUNG | 121659178 | 121659322 | 121659185 | 121659185 | Missense_Mutation | T | A | p.S1617R |
GCIY_STOMACH | 121659178 | 121659322 | 121659205 | 121659205 | Missense_Mutation | G | A | p.R1624H |
SARC9371_BONE | 121659178 | 121659322 | 121659252 | 121659252 | Missense_Mutation | C | T | p.P1640S |
PANC1_PANCREAS | 121676654 | 121676736 | 121676677 | 121676677 | Missense_Mutation | G | A | p.A1770T |
KP1N_PANCREAS | 121676654 | 121676736 | 121676677 | 121676677 | Missense_Mutation | G | A | p.A1770T |
HEC108_ENDOMETRIUM | 121676654 | 121676736 | 121676683 | 121676683 | Missense_Mutation | C | T | p.L1772F |
TC106_BONE | 121676654 | 121676736 | 121676695 | 121676695 | Missense_Mutation | G | A | p.D1776N |
DV90_LUNG | 121676654 | 121676736 | 121676716 | 121676716 | Missense_Mutation | A | G | p.I1783V |
RCK8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 121678809 | 121678943 | 121678839 | 121678839 | Missense_Mutation | G | A | p.A1800T |
NCIH2172_LUNG | 121678809 | 121678943 | 121678840 | 121678840 | Missense_Mutation | C | T | p.A1800V |
NCIH2135_LUNG | 121678809 | 121678943 | 121678876 | 121678876 | Missense_Mutation | G | T | p.W1812L |
M14_SKIN | 121678809 | 121678943 | 121678890 | 121678890 | Missense_Mutation | G | A | p.E1817K |
CCRFCEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 121678809 | 121678943 | 121678902 | 121678902 | Missense_Mutation | G | A | p.E1821K |
SNU1040_LARGE_INTESTINE | 121678809 | 121678943 | 121678912 | 121678912 | Missense_Mutation | T | A | p.V1824D |
GP5D_LARGE_INTESTINE | 121678809 | 121678943 | 121678927 | 121678927 | Missense_Mutation | T | C | p.L1829P |
HEPG2_LIVER | 121694995 | 121695141 | 121695020 | 121695020 | Missense_Mutation | C | A | p.P2136Q |
C3A_LIVER | 121694995 | 121695141 | 121695020 | 121695020 | Missense_Mutation | C | A | p.P2136Q |
JHUEM7_ENDOMETRIUM | 121694995 | 121695141 | 121695040 | 121695040 | Missense_Mutation | A | C | p.N2143H |
EFO21_OVARY | 121694995 | 121695141 | 121695064 | 121695064 | Missense_Mutation | C | G | p.L2151V |
PL18_PANCREAS | 121694995 | 121695141 | 121695130 | 121695130 | Missense_Mutation | G | C | p.E2173Q |
KYSE510_OESOPHAGUS | 121608005 | 121608184 | 121608026 | 121608027 | Nonsense_Mutation | GG | AA | p.W49* |
HCC2998_LARGE_INTESTINE | 121644668 | 121644714 | 121644703 | 121644703 | Nonsense_Mutation | G | T | p.E426* |
SKCO1_LARGE_INTESTINE | 121678809 | 121678943 | 121678902 | 121678902 | Nonsense_Mutation | G | T | p.E1821* |
SNU761_LIVER | 121568210 | 121568275 | 121568275 | 121568275 | Splice_Site | G | T | p.G42* |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PTPRZ1 |
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 |
Top |
Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PTPRZ1 |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PTPRZ1 |
Top |
RelatedDrugs for PTPRZ1 |
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 |
Top |
RelatedDiseases for PTPRZ1 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |
PTPRZ1 | C0036341 | Schizophrenia | 3 | PSYGENET |
PTPRZ1 | C0032273 | Pneumoconiosis | 1 | CTD_human |
PTPRZ1 | C0079487 | Helicobacter Infections | 1 | CTD_human |