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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 ZNF512B |
 Gene summary |
| Gene information | Gene symbol | ZNF512B | Gene ID | 57473 |
| Gene name | zinc finger protein 512B | |
| Synonyms | GM632 | |
| Cytomap | 20q13.33 | |
| Type of gene | protein-coding | |
| Description | zinc finger protein 512B | |
| Modification date | 20180519 | |
| UniProtAcc | Q96KM6 | |
| Context | PubMed: ZNF512B [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 ZNF512B 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 ZNF512B |
| 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 ZNF512B |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_358871 | 20 | 62588054:62591492:62592661:62592760:62593294:62593357 | 62592661:62592760 | ENSG00000196700.3 | ENST00000369888.1,ENST00000450537.1,ENST00000217130.3 |
| exon_skip_358873 | 20 | 62593294:62593357:62593625:62593727:62593939:62594134 | 62593625:62593727 | ENSG00000196700.3 | ENST00000369888.1,ENST00000450537.1,ENST00000217130.3 |
| exon_skip_358876 | 20 | 62593939:62594134:62594447:62594618:62594694:62594793 | 62594447:62594618 | ENSG00000196700.3 | ENST00000369888.1,ENST00000450537.1,ENST00000217130.3 |
| exon_skip_358877 | 20 | 62594447:62594618:62594694:62594793:62594970:62595063 | 62594694:62594793 | ENSG00000196700.3 | ENST00000369888.1,ENST00000450537.1,ENST00000217130.3 |
| exon_skip_358880 | 20 | 62594694:62594793:62594970:62595063:62595141:62595266 | 62594970:62595063 | ENSG00000196700.3 | ENST00000369888.1,ENST00000450537.1,ENST00000217130.3 |
| exon_skip_358881 | 20 | 62595423:62595570:62595672:62595744:62595842:62596069 | 62595672:62595744 | ENSG00000196700.3 | ENST00000369888.1,ENST00000450537.1,ENST00000217130.3 |
| exon_skip_358885 | 20 | 62597493:62598134:62598228:62598357:62598733:62598876 | 62598228:62598357 | ENSG00000196700.3 | ENST00000369888.1,ENST00000450537.1,ENST00000217130.3 |
| exon_skip_358888 | 20 | 62598228:62598357:62598733:62598876:62599182:62599305 | 62598733:62598876 | ENSG00000196700.3 | ENST00000369888.1,ENST00000450537.1,ENST00000217130.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for ZNF512B |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_358871 | 20 | 62588054:62591492:62592661:62592760:62593294:62593357 | 62592661:62592760 | ENSG00000196700.3 | ENST00000369888.1,ENST00000450537.1,ENST00000217130.3 |
| exon_skip_358873 | 20 | 62593294:62593357:62593625:62593727:62593939:62594134 | 62593625:62593727 | ENSG00000196700.3 | ENST00000369888.1,ENST00000450537.1,ENST00000217130.3 |
| exon_skip_358876 | 20 | 62593939:62594134:62594447:62594618:62594694:62594793 | 62594447:62594618 | ENSG00000196700.3 | ENST00000369888.1,ENST00000450537.1,ENST00000217130.3 |
| exon_skip_358877 | 20 | 62594447:62594618:62594694:62594793:62594970:62595063 | 62594694:62594793 | ENSG00000196700.3 | ENST00000369888.1,ENST00000450537.1,ENST00000217130.3 |
| exon_skip_358880 | 20 | 62594694:62594793:62594970:62595063:62595141:62595266 | 62594970:62595063 | ENSG00000196700.3 | ENST00000369888.1,ENST00000450537.1,ENST00000217130.3 |
| exon_skip_358881 | 20 | 62595423:62595570:62595672:62595744:62595842:62596069 | 62595672:62595744 | ENSG00000196700.3 | ENST00000369888.1,ENST00000450537.1,ENST00000217130.3 |
| exon_skip_358885 | 20 | 62597493:62598134:62598228:62598357:62598733:62598876 | 62598228:62598357 | ENSG00000196700.3 | ENST00000369888.1,ENST00000450537.1,ENST00000217130.3 |
| exon_skip_358888 | 20 | 62598228:62598357:62598733:62598876:62599182:62599305 | 62598733:62598876 | ENSG00000196700.3 | ENST00000369888.1,ENST00000450537.1,ENST00000217130.3 |
| 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 ZNF512B |
| 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 |
| ENST00000369888 | 62598733 | 62598876 | Frame-shift |
| ENST00000369888 | 62592661 | 62592760 | In-frame |
| ENST00000369888 | 62593625 | 62593727 | In-frame |
| ENST00000369888 | 62594447 | 62594618 | In-frame |
| ENST00000369888 | 62594694 | 62594793 | In-frame |
| ENST00000369888 | 62594970 | 62595063 | In-frame |
| ENST00000369888 | 62595672 | 62595744 | In-frame |
| ENST00000369888 | 62598228 | 62598357 | 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 |
| ENST00000369888 | 62598733 | 62598876 | Frame-shift |
| ENST00000369888 | 62592661 | 62592760 | In-frame |
| ENST00000369888 | 62593625 | 62593727 | In-frame |
| ENST00000369888 | 62594447 | 62594618 | In-frame |
| ENST00000369888 | 62594694 | 62594793 | In-frame |
| ENST00000369888 | 62594970 | 62595063 | In-frame |
| ENST00000369888 | 62595672 | 62595744 | In-frame |
| ENST00000369888 | 62598228 | 62598357 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ZNF512B |
| 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 |
| ENST00000369888 | 5936 | 892 | 62598228 | 62598357 | 319 | 447 | 88 | 131 |
| ENST00000369888 | 5936 | 892 | 62595672 | 62595744 | 1316 | 1387 | 420 | 444 |
| ENST00000369888 | 5936 | 892 | 62594970 | 62595063 | 1660 | 1752 | 535 | 566 |
| ENST00000369888 | 5936 | 892 | 62594694 | 62594793 | 1753 | 1851 | 566 | 599 |
| ENST00000369888 | 5936 | 892 | 62594447 | 62594618 | 1852 | 2022 | 599 | 656 |
| ENST00000369888 | 5936 | 892 | 62593625 | 62593727 | 2218 | 2319 | 721 | 755 |
| ENST00000369888 | 5936 | 892 | 62592661 | 62592760 | 2383 | 2481 | 776 | 809 |
| 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 |
| ENST00000369888 | 5936 | 892 | 62598228 | 62598357 | 319 | 447 | 88 | 131 |
| ENST00000369888 | 5936 | 892 | 62595672 | 62595744 | 1316 | 1387 | 420 | 444 |
| ENST00000369888 | 5936 | 892 | 62594970 | 62595063 | 1660 | 1752 | 535 | 566 |
| ENST00000369888 | 5936 | 892 | 62594694 | 62594793 | 1753 | 1851 | 566 | 599 |
| ENST00000369888 | 5936 | 892 | 62594447 | 62594618 | 1852 | 2022 | 599 | 656 |
| ENST00000369888 | 5936 | 892 | 62593625 | 62593727 | 2218 | 2319 | 721 | 755 |
| ENST00000369888 | 5936 | 892 | 62592661 | 62592760 | 2383 | 2481 | 776 | 809 |
| 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 |
| Q96KM6 | 88 | 131 | 1 | 892 | Chain | ID=PRO_0000047779;Note=Zinc finger protein 512B |
| Q96KM6 | 88 | 131 | 105 | 129 | Zinc finger | Note=C2H2-type 1%3B atypical;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00042 |
| Q96KM6 | 420 | 444 | 1 | 892 | Chain | ID=PRO_0000047779;Note=Zinc finger protein 512B |
| Q96KM6 | 535 | 566 | 543 | 545 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2GQJ |
| Q96KM6 | 535 | 566 | 1 | 892 | Chain | ID=PRO_0000047779;Note=Zinc finger protein 512B |
| Q96KM6 | 535 | 566 | 524 | 540 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2GQJ |
| Q96KM6 | 535 | 566 | 552 | 562 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2GQJ |
| Q96KM6 | 535 | 566 | 540 | 563 | Zinc finger | Note=C2H2-type 3;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00042 |
| Q96KM6 | 566 | 599 | 1 | 892 | Chain | ID=PRO_0000047779;Note=Zinc finger protein 512B |
| Q96KM6 | 566 | 599 | 594 | 618 | Zinc finger | Note=C2H2-type 4%3B atypical;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00042 |
| Q96KM6 | 599 | 656 | 1 | 892 | Chain | ID=PRO_0000047779;Note=Zinc finger protein 512B |
| Q96KM6 | 599 | 656 | 594 | 618 | Zinc finger | Note=C2H2-type 4%3B atypical;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00042 |
| Q96KM6 | 599 | 656 | 630 | 653 | Zinc finger | Note=C2H2-type 5;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00042 |
| Q96KM6 | 721 | 755 | 1 | 892 | Chain | ID=PRO_0000047779;Note=Zinc finger protein 512B |
| Q96KM6 | 721 | 755 | 750 | 774 | Zinc finger | Note=C2H2-type 6%3B atypical;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00042 |
| Q96KM6 | 776 | 809 | 1 | 892 | Chain | ID=PRO_0000047779;Note=Zinc finger protein 512B |
| Q96KM6 | 776 | 809 | 784 | 807 | Zinc finger | Note=C2H2-type 7;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00042 |
| 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 |
| Q96KM6 | 88 | 131 | 1 | 892 | Chain | ID=PRO_0000047779;Note=Zinc finger protein 512B |
| Q96KM6 | 88 | 131 | 105 | 129 | Zinc finger | Note=C2H2-type 1%3B atypical;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00042 |
| Q96KM6 | 420 | 444 | 1 | 892 | Chain | ID=PRO_0000047779;Note=Zinc finger protein 512B |
| Q96KM6 | 535 | 566 | 543 | 545 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2GQJ |
| Q96KM6 | 535 | 566 | 1 | 892 | Chain | ID=PRO_0000047779;Note=Zinc finger protein 512B |
| Q96KM6 | 535 | 566 | 524 | 540 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2GQJ |
| Q96KM6 | 535 | 566 | 552 | 562 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2GQJ |
| Q96KM6 | 535 | 566 | 540 | 563 | Zinc finger | Note=C2H2-type 3;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00042 |
| Q96KM6 | 566 | 599 | 1 | 892 | Chain | ID=PRO_0000047779;Note=Zinc finger protein 512B |
| Q96KM6 | 566 | 599 | 594 | 618 | Zinc finger | Note=C2H2-type 4%3B atypical;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00042 |
| Q96KM6 | 599 | 656 | 1 | 892 | Chain | ID=PRO_0000047779;Note=Zinc finger protein 512B |
| Q96KM6 | 599 | 656 | 594 | 618 | Zinc finger | Note=C2H2-type 4%3B atypical;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00042 |
| Q96KM6 | 599 | 656 | 630 | 653 | Zinc finger | Note=C2H2-type 5;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00042 |
| Q96KM6 | 721 | 755 | 1 | 892 | Chain | ID=PRO_0000047779;Note=Zinc finger protein 512B |
| Q96KM6 | 721 | 755 | 750 | 774 | Zinc finger | Note=C2H2-type 6%3B atypical;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00042 |
| Q96KM6 | 776 | 809 | 1 | 892 | Chain | ID=PRO_0000047779;Note=Zinc finger protein 512B |
| Q96KM6 | 776 | 809 | 784 | 807 | Zinc finger | Note=C2H2-type 7;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00042 |
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SNVs in the skipped exons for ZNF512B |
| - 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. |
ZNF512B_LUAD_exon_skip_358876_psi_boxplot.png |
| - 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-G3-A3CJ-01 | exon_skip_358880 | 62594971 | 62595063 | 62595013 | 62595013 | Frame_Shift_Del | T | - | p.K552fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_358881 | 62595673 | 62595744 | 62595720 | 62595720 | Frame_Shift_Del | T | - | p.K429fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_358881 | 62595673 | 62595744 | 62595720 | 62595720 | Frame_Shift_Del | T | - | p.K429fs |
| SKCM | TCGA-FS-A4F9-06 | exon_skip_358881 | 62595673 | 62595744 | 62595733 | 62595734 | Frame_Shift_Del | TC | - | p.425_425del |
| SKCM | TCGA-FS-A4F9-06 | exon_skip_358881 | 62595673 | 62595744 | 62595733 | 62595734 | Frame_Shift_Del | TC | - | p.QK424fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_358885 | 62598229 | 62598357 | 62598309 | 62598309 | Frame_Shift_Del | C | - | p.V105fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_358888 | 62598734 | 62598876 | 62598777 | 62598777 | Frame_Shift_Del | T | - | p.K74fs |
| STAD | TCGA-BR-4292-01 | exon_skip_358888 | 62598734 | 62598876 | 62598745 | 62598745 | Nonsense_Mutation | G | A | p.R85* |
| STAD | TCGA-BR-4292-01 | exon_skip_358888 | 62598734 | 62598876 | 62598745 | 62598745 | Nonsense_Mutation | G | A | p.R85X |
| STAD | TCGA-CG-4442-01 | exon_skip_358888 | 62598734 | 62598876 | 62598853 | 62598853 | Nonsense_Mutation | G | A | p.Q49* |
| STAD | TCGA-CG-4442-01 | exon_skip_358888 | 62598734 | 62598876 | 62598853 | 62598853 | Nonsense_Mutation | G | A | p.Q49X |
| LUAD | TCGA-75-7031-01 | exon_skip_358876 | 62594448 | 62594618 | 62594447 | 62594447 | Splice_Site | C | A | p.P656_splice |
| READ | TCGA-AG-3592-01 | exon_skip_358888 | 62598734 | 62598876 | 62598733 | 62598733 | Splice_Site | C | G | . |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-75-7031-01 |
| Cancer type: LUAD | |
| ESID: exon_skip_358876 | |
| Skipped exon start: 62594448 | |
| Skipped exon end: 62594618 | |
| Mutation start: 62594447 | |
| Mutation end: 62594447 | |
| Mutation type: Splice_Site | |
| Reference seq: C | |
| Mutation seq: A | |
| AAchange: p.P656_splice | |
exon_skip_358876_LUAD_TCGA-75-7031-01.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 |
| PC9_LUNG | 62593626 | 62593727 | 62593633 | 62593633 | Missense_Mutation | G | A | p.P753L |
| RKO_LARGE_INTESTINE | 62594448 | 62594618 | 62594458 | 62594458 | Missense_Mutation | T | A | p.H653L |
| CP66MEL_SKIN | 62594448 | 62594618 | 62594485 | 62594485 | Missense_Mutation | C | T | p.G644D |
| CAL29_URINARY_TRACT | 62594448 | 62594618 | 62594518 | 62594518 | Missense_Mutation | G | A | p.T633I |
| HT1376_URINARY_TRACT | 62594448 | 62594618 | 62594569 | 62594569 | Missense_Mutation | C | T | p.R616Q |
| SNUC5_LARGE_INTESTINE | 62594695 | 62594793 | 62594715 | 62594715 | Missense_Mutation | G | A | p.R593W |
| BE13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 62594695 | 62594793 | 62594726 | 62594726 | Missense_Mutation | T | C | p.K589R |
| PEER_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 62594695 | 62594793 | 62594726 | 62594726 | Missense_Mutation | T | C | p.K589R |
| NCIH1930_LUNG | 62594695 | 62594793 | 62594738 | 62594738 | Missense_Mutation | C | A | p.R585L |
| SNU175_LARGE_INTESTINE | 62594695 | 62594793 | 62594739 | 62594739 | Missense_Mutation | G | A | p.R585C |
| 22RV1_PROSTATE | 62594695 | 62594793 | 62594763 | 62594763 | Missense_Mutation | C | T | p.E577K |
| HS675T_FIBROBLAST | 62594695 | 62594793 | 62594763 | 62594763 | Missense_Mutation | C | T | p.E577K |
| 639V_URINARY_TRACT | 62594971 | 62595063 | 62594985 | 62594985 | Missense_Mutation | C | T | p.E562K |
| KYSE140_OESOPHAGUS | 62594971 | 62595063 | 62594987 | 62594987 | Missense_Mutation | G | A | p.A561V |
| EW12_BONE | 62594971 | 62595063 | 62594989 | 62594989 | Missense_Mutation | C | T | p.M560I |
| KMH2_THYROID | 62595673 | 62595744 | 62595690 | 62595690 | Missense_Mutation | C | A | p.G439V |
| RCCFG2_KIDNEY | 62598229 | 62598357 | 62598296 | 62598296 | Missense_Mutation | T | A | p.N109I |
| WM88_SKIN | 62598229 | 62598357 | 62598353 | 62598353 | Missense_Mutation | G | A | p.S90F |
| MZ7MEL_SKIN | 62598734 | 62598876 | 62598742 | 62598742 | Missense_Mutation | C | T | p.D86N |
| NCIH1915_LUNG | 62598734 | 62598876 | 62598861 | 62598861 | Missense_Mutation | C | A | p.R46L |
| KM12_LARGE_INTESTINE | 62593626 | 62593727 | 62593671 | 62593671 | Nonsense_Mutation | C | T | p.W740* |
| MCC26_SKIN | 62598229 | 62598357 | 62598293 | 62598293 | Nonsense_Mutation | G | C | p.S110* |
| HEC108_ENDOMETRIUM | 62598734 | 62598876 | 62598745 | 62598745 | Nonsense_Mutation | G | A | p.R85* |
| KNS81_CENTRAL_NERVOUS_SYSTEM | 62592662 | 62592760 | 62592663 | 62592663 | Splice_Site | T | C | p.E809G |
| KNS81FD_CENTRAL_NERVOUS_SYSTEM | 62592662 | 62592760 | 62592663 | 62592663 | Splice_Site | T | C | p.E809G |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ZNF512B |
| 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 ZNF512B |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ZNF512B |
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RelatedDrugs for ZNF512B |
| 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 ZNF512B |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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