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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 ZSCAN12 |
 Gene summary |
| Gene information | Gene symbol | ZSCAN12 | Gene ID | 9753 |
| Gene name | zinc finger and SCAN domain containing 12 | |
| Synonyms | ZFP96|ZNF29K1|ZNF305|ZNF96|dJ29K1.2 | |
| Cytomap | 6p22.1 | |
| Type of gene | protein-coding | |
| Description | zinc finger and SCAN domain-containing protein 12zinc finger protein 305zinc finger protein 96 | |
| Modification date | 20180519 | |
| UniProtAcc | O43309 | |
| Context | PubMed: ZSCAN12 [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 ZSCAN12 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 ZSCAN12 |
| 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 ZSCAN12 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_456840 | 6 | 28349967:28350386:28358372:28359519:28360678:28360823 | 28358372:28359519 | ENSG00000158691.10 | ENST00000396827.3,ENST00000361028.1 |
| exon_skip_456842 | 6 | 28358372:28359519:28360678:28360823:28365780:28366250 | 28360678:28360823 | ENSG00000158691.10 | ENST00000396827.3,ENST00000361028.1 |
| exon_skip_456844 | 6 | 28360678:28360823:28365780:28366250:28367433:28367508 | 28365780:28366250 | ENSG00000158691.10 | ENST00000396827.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for ZSCAN12 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_456840 | 6 | 28349967:28350386:28358372:28359519:28360678:28360823 | 28358372:28359519 | ENSG00000158691.10 | ENST00000361028.1,ENST00000396827.3 |
| exon_skip_456842 | 6 | 28358372:28359519:28360678:28360823:28365780:28366250 | 28360678:28360823 | ENSG00000158691.10 | ENST00000361028.1,ENST00000396827.3 |
| exon_skip_456844 | 6 | 28360678:28360823:28365780:28366250:28367433:28367508 | 28365780:28366250 | ENSG00000158691.10 | ENST00000396827.3 |
| 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 ZSCAN12 |
| 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 |
| ENST00000396827 | 28365780 | 28366250 | 3UTR-3CDS |
| ENST00000361028 | 28358372 | 28359519 | Frame-shift |
| ENST00000396827 | 28358372 | 28359519 | Frame-shift |
| ENST00000361028 | 28360678 | 28360823 | Frame-shift |
| ENST00000396827 | 28360678 | 28360823 | Frame-shift |
| 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 |
| ENST00000396827 | 28365780 | 28366250 | 3UTR-3CDS |
| ENST00000361028 | 28358372 | 28359519 | Frame-shift |
| ENST00000396827 | 28358372 | 28359519 | Frame-shift |
| ENST00000361028 | 28360678 | 28360823 | Frame-shift |
| ENST00000396827 | 28360678 | 28360823 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for ZSCAN12 |
| 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 |
| 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 ZSCAN12 |
| - 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 |
| COAD | TCGA-F4-6703-01 | exon_skip_456840 | 28358373 | 28359519 | 28358666 | 28358666 | Frame_Shift_Del | T | - | p.P468fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_456840 | 28358373 | 28359519 | 28359185 | 28359185 | Frame_Shift_Del | C | - | p.R294fs |
| BRCA | TCGA-AR-A0TT-01 | exon_skip_456840 | 28358373 | 28359519 | 28358993 | 28358993 | Nonsense_Mutation | A | C | p.Y358* |
| UCEC | TCGA-BS-A0UF-01 | exon_skip_456840 | 28358373 | 28359519 | 28359367 | 28359367 | Nonsense_Mutation | C | A | p.E234* |
| LIHC | TCGA-DD-AADF-01 | exon_skip_456840 | 28358373 | 28359519 | 28359478 | 28359478 | Nonsense_Mutation | G | A | p.Q197X |
| UCEC | TCGA-BS-A0UF-01 | exon_skip_456842 | 28360679 | 28360823 | 28360757 | 28360757 | Nonsense_Mutation | C | A | p.E157* |
| - 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 |
| IM95_STOMACH | 28358373 | 28359519 | 28358639 | 28358639 | Frame_Shift_Del | T | - | p.K476fs |
| NCIH650_LUNG | 28358373 | 28359519 | 28358429 | 28358429 | Missense_Mutation | G | C | p.I546M |
| LNZTA3WT4_CENTRAL_NERVOUS_SYSTEM | 28358373 | 28359519 | 28358518 | 28358518 | Missense_Mutation | T | C | p.R517G |
| LNZ308_CENTRAL_NERVOUS_SYSTEM | 28358373 | 28359519 | 28358518 | 28358518 | Missense_Mutation | T | C | p.R517G |
| OVK18_OVARY | 28358373 | 28359519 | 28358556 | 28358556 | Missense_Mutation | T | C | p.K504R |
| BT549_BREAST | 28358373 | 28359519 | 28358568 | 28358568 | Missense_Mutation | T | C | p.D500G |
| DU145_PROSTATE | 28358373 | 28359519 | 28358587 | 28358587 | Missense_Mutation | C | G | p.E494Q |
| JHUEM7_ENDOMETRIUM | 28358373 | 28359519 | 28358601 | 28358601 | Missense_Mutation | C | T | p.R489Q |
| C33A_CERVIX | 28358373 | 28359519 | 28358637 | 28358637 | Missense_Mutation | G | A | p.A477V |
| NCIH1155_LUNG | 28358373 | 28359519 | 28358638 | 28358638 | Missense_Mutation | C | T | p.A477T |
| NCIH2087_LUNG | 28358373 | 28359519 | 28358689 | 28358689 | Missense_Mutation | G | T | p.Q460K |
| NCIH2087_LUNG | 28358373 | 28359519 | 28358691 | 28358691 | Missense_Mutation | T | G | p.H459P |
| SW684_SOFT_TISSUE | 28358373 | 28359519 | 28358784 | 28358784 | Missense_Mutation | G | A | p.S428F |
| MN60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 28358373 | 28359519 | 28358820 | 28358820 | Missense_Mutation | C | T | p.C416Y |
| MFE319_ENDOMETRIUM | 28358373 | 28359519 | 28358830 | 28358830 | Missense_Mutation | G | A | p.P413S |
| TCCSUP_URINARY_TRACT | 28358373 | 28359519 | 28358841 | 28358841 | Missense_Mutation | G | C | p.T409S |
| PANC0504_PANCREAS | 28358373 | 28359519 | 28358874 | 28358874 | Missense_Mutation | C | T | p.R398H |
| GBM001_CENTRAL_NERVOUS_SYSTEM | 28358373 | 28359519 | 28358929 | 28358929 | Missense_Mutation | G | T | p.H380N |
| MCC13_SKIN | 28358373 | 28359519 | 28358944 | 28358944 | Missense_Mutation | G | A | p.H375Y |
| SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 28358373 | 28359519 | 28359111 | 28359111 | Missense_Mutation | C | T | p.R319Q |
| IPC298_SKIN | 28358373 | 28359519 | 28359154 | 28359154 | Missense_Mutation | C | T | p.E305K |
| NCIH748_LUNG | 28358373 | 28359519 | 28359168 | 28359168 | Missense_Mutation | C | T | p.R300K |
| CW2_LARGE_INTESTINE | 28358373 | 28359519 | 28359202 | 28359202 | Missense_Mutation | G | A | p.L289F |
| LS411N_LARGE_INTESTINE | 28358373 | 28359519 | 28359216 | 28359216 | Missense_Mutation | C | T | p.S284N |
| DG75_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 28358373 | 28359519 | 28359258 | 28359258 | Missense_Mutation | C | T | p.G270E |
| MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 28358373 | 28359519 | 28359277 | 28359277 | Missense_Mutation | G | A | p.H264Y |
| GP2D_LARGE_INTESTINE | 28358373 | 28359519 | 28359371 | 28359371 | Missense_Mutation | T | C | p.I232M |
| NCIH1734_LUNG | 28358373 | 28359519 | 28359383 | 28359383 | Missense_Mutation | T | A | p.E228D |
| NCIH520_LUNG | 28358373 | 28359519 | 28359408 | 28359408 | Missense_Mutation | G | A | p.S220F |
| JHOS4_OVARY | 28358373 | 28359519 | 28359481 | 28359481 | Missense_Mutation | T | G | p.K196Q |
| RS5_FIBROBLAST | 28360679 | 28360823 | 28360744 | 28360744 | Missense_Mutation | G | A | p.S161F |
| UACC893_BREAST | 28365781 | 28366250 | 28365907 | 28365907 | Missense_Mutation | C | A | p.E92D |
| NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 28365781 | 28366250 | 28365939 | 28365939 | Missense_Mutation | T | C | p.K82E |
| P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 28365781 | 28366250 | 28365964 | 28365964 | Missense_Mutation | C | G | p.Q73H |
| NALM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 28365781 | 28366250 | 28366043 | 28366043 | Missense_Mutation | T | C | p.Q47R |
| NB1_AUTONOMIC_GANGLIA | 28365781 | 28366250 | 28366053 | 28366053 | Missense_Mutation | C | A | p.V44F |
| HEC151_ENDOMETRIUM | 28365781 | 28366250 | 28366127 | 28366127 | Missense_Mutation | A | G | p.V19A |
| HEC251_ENDOMETRIUM | 28358373 | 28359519 | 28359463 | 28359463 | Nonsense_Mutation | C | A | p.E202* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ZSCAN12 |
| 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_456844 | 6 | 28360678:28360823:28365780:28366250:28367433:28367508 | 28365780:28366250 | ENST00000396827.3 | LGG | rs2232423 | chr6:28366151 | A/G | 2.05e-03 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ZSCAN12 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ZSCAN12 |
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RelatedDrugs for ZSCAN12 |
| 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 ZSCAN12 |
| 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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