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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 ZHX2 |
Gene summary |
| Gene information | Gene symbol | ZHX2 | Gene ID | 22882 |
| Gene name | zinc fingers and homeoboxes 2 | |
| Synonyms | AFR1|RAF | |
| Cytomap | 8q24.13 | |
| Type of gene | protein-coding | |
| Description | zinc fingers and homeoboxes protein 2AFP regulator 1alpha-fetoprotein regulator 1regulator of AFPtranscription factor ZHX2zinc finger and homeodomain protein 2 | |
| Modification date | 20180523 | |
| UniProtAcc | Q9Y6X8 | |
| Context | PubMed: ZHX2 [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 |
| ZHX2 | GO:0000122 | negative regulation of transcription by RNA polymerase II | 12741956 |
| ZHX2 | GO:0045892 | negative regulation of transcription, DNA-templated | 12741956 |
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Exon skipping events across known transcript of Ensembl for ZHX2 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 ZHX2 |
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 ZHX2 |
Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_485843 | 8 | 123875715:123875778:123963531:123966268:123985481:123986750 | 123963531:123966268 | ENSG00000178764.6 | ENST00000314393.4 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for ZHX2 |
Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_485843 | 8 | 123875715:123875778:123963531:123966268:123985481:123986750 | 123963531:123966268 | ENSG00000178764.6 | ENST00000314393.4 |
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 ZHX2 |
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 |
| ENST00000314393 | 123963531 | 123966268 | 3UTR-5UTR |
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 |
| ENST00000314393 | 123963531 | 123966268 | 3UTR-5UTR |
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Infer the effects of exon skipping event on protein functional features for ZHX2 |
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 ZHX2 |
- 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-A3A0-01 | exon_skip_485843 | 123963532 | 123966268 | 123964530 | 123964530 | Frame_Shift_Del | C | - | p.V260fs |
| SARC | TCGA-DX-A7EQ-01 | exon_skip_485843 | 123963532 | 123966268 | 123964551 | 123964551 | Frame_Shift_Del | C | - | p.Y267fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_485843 | 123963532 | 123966268 | 123964795 | 123964795 | Frame_Shift_Del | C | - | p.P349fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_485843 | 123963532 | 123966268 | 123964808 | 123964808 | Frame_Shift_Del | C | - | p.A353fs |
| STAD | TCGA-CG-5721-01 | exon_skip_485843 | 123963532 | 123966268 | 123965055 | 123965055 | Frame_Shift_Del | C | - | p.N435fs |
| LGG | TCGA-DU-7300-01 | exon_skip_485843 | 123963532 | 123966268 | 123965332 | 123965333 | Frame_Shift_Del | TT | - | p.F528fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_485843 | 123963532 | 123966268 | 123965336 | 123965336 | Frame_Shift_Del | C | - | p.A529fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_485843 | 123963532 | 123966268 | 123965406 | 123965406 | Frame_Shift_Del | T | - | p.S552fs |
| COAD | TCGA-AA-3663-01 | exon_skip_485843 | 123963532 | 123966268 | 123965800 | 123965800 | Frame_Shift_Del | A | - | p.L683fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_485843 | 123963532 | 123966268 | 123965917 | 123965917 | Frame_Shift_Del | G | - | p.G724fs |
| COAD | TCGA-A6-5661-01 | exon_skip_485843 | 123963532 | 123966268 | 123965953 | 123965953 | Frame_Shift_Del | A | - | p.P734fs |
| COAD | TCGA-AA-A00A-01 | exon_skip_485843 | 123963532 | 123966268 | 123963963 | 123963964 | Frame_Shift_Ins | - | A | p.S71fs |
| LUAD | TCGA-17-Z027-01 | exon_skip_485843 | 123963532 | 123966268 | 123965335 | 123965336 | Frame_Shift_Ins | - | C | p.P529fs |
| UCEC | TCGA-B5-A0K9-01 | exon_skip_485843 | 123963532 | 123966268 | 123965335 | 123965336 | Frame_Shift_Ins | - | C | p.A529fs |
| STAD | TCGA-BR-6802-01 | exon_skip_485843 | 123963532 | 123966268 | 123965544 | 123965545 | Frame_Shift_Ins | - | A | p.G598fs |
| UCEC | TCGA-B5-A0JZ-01 | exon_skip_485843 | 123963532 | 123966268 | 123965544 | 123965545 | Frame_Shift_Ins | - | A | p.G598fs |
| STAD | TCGA-BR-6802-01 | exon_skip_485843 | 123963532 | 123966268 | 123965545 | 123965546 | Frame_Shift_Ins | - | A | p.G598fs |
| LIHC | TCGA-BC-A112-01 | exon_skip_485843 | 123963532 | 123966268 | 123966089 | 123966090 | Frame_Shift_Ins | - | G | p.R780fs |
| LUAD | TCGA-78-7220-01 | exon_skip_485843 | 123963532 | 123966268 | 123964312 | 123964312 | Nonsense_Mutation | A | T | p.K188* |
| BLCA | TCGA-2F-A9KT-01 | exon_skip_485843 | 123963532 | 123966268 | 123965512 | 123965512 | Nonsense_Mutation | G | T | p.E588* |
| SKCM | TCGA-EE-A2MR-06 | exon_skip_485843 | 123963532 | 123966268 | 123965554 | 123965554 | Nonsense_Mutation | C | T | p.Q602* |
| SKCM | TCGA-IH-A3EA-01 | exon_skip_485843 | 123963532 | 123966268 | 123965716 | 123965716 | Nonsense_Mutation | C | T | p.Q656* |
| SKCM | TCGA-IH-A3EA-01 | exon_skip_485843 | 123963532 | 123966268 | 123965716 | 123965716 | Nonsense_Mutation | C | T | p.Q656X |
- 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 |
| HCT116_LARGE_INTESTINE | 123963532 | 123966268 | 123965055 | 123965055 | Frame_Shift_Del | C | - | p.N435fs |
| NALM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 123963532 | 123966268 | 123965336 | 123965336 | Frame_Shift_Del | C | - | p.A529fs |
| KELLY_AUTONOMIC_GANGLIA | 123963532 | 123966268 | 123963963 | 123963964 | Frame_Shift_Ins | - | A | p.K72fs |
| WM1799_SKIN | 123963532 | 123966268 | 123963963 | 123963964 | Frame_Shift_Ins | - | A | p.K72fs |
| P30OHK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 123963532 | 123966268 | 123966017 | 123966018 | Frame_Shift_Ins | - | A | p.AK756fs |
| MDAMB453_BREAST | 123963532 | 123966268 | 123964337 | 123964348 | In_Frame_Del | CCAAGAAGGTGC | - | p.KKVP197del |
| SNUC5_LARGE_INTESTINE | 123963532 | 123966268 | 123964740 | 123964742 | In_Frame_Del | GAA | - | p.K332del |
| JJN3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 123963532 | 123966268 | 123963786 | 123963786 | Missense_Mutation | G | A | p.M12I |
| HEC1B_ENDOMETRIUM | 123963532 | 123966268 | 123963836 | 123963836 | Missense_Mutation | G | T | p.R29M |
| CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 123963532 | 123966268 | 123963857 | 123963857 | Missense_Mutation | G | A | p.G36D |
| CW2_LARGE_INTESTINE | 123963532 | 123966268 | 123963874 | 123963874 | Missense_Mutation | G | A | p.V42M |
| T47D_BREAST | 123963532 | 123966268 | 123963874 | 123963874 | Missense_Mutation | G | A | p.V42M |
| BC3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 123963532 | 123966268 | 123963911 | 123963911 | Missense_Mutation | C | G | p.S54C |
| MZ7B_MATCHED_NORMAL_TISSUE | 123963532 | 123966268 | 123963937 | 123963937 | Missense_Mutation | G | T | p.V63L |
| MZ7MEL_SKIN | 123963532 | 123966268 | 123963937 | 123963937 | Missense_Mutation | G | T | p.V63L |
| PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 123963532 | 123966268 | 123964016 | 123964016 | Missense_Mutation | A | G | p.N89S |
| PK1_PANCREAS | 123963532 | 123966268 | 123964060 | 123964060 | Missense_Mutation | G | A | p.V104M |
| NB6_AUTONOMIC_GANGLIA | 123963532 | 123966268 | 123964098 | 123964098 | Missense_Mutation | C | G | p.N116K |
| SNU81_LARGE_INTESTINE | 123963532 | 123966268 | 123964115 | 123964115 | Missense_Mutation | A | G | p.Y122C |
| GP5D_LARGE_INTESTINE | 123963532 | 123966268 | 123964135 | 123964135 | Missense_Mutation | A | G | p.N129D |
| MZ7MEL_SKIN | 123963532 | 123966268 | 123964156 | 123964156 | Missense_Mutation | G | A | p.E136K |
| GIMEN_AUTONOMIC_GANGLIA | 123963532 | 123966268 | 123964195 | 123964195 | Missense_Mutation | C | A | p.Q149K |
| SNUC5_LARGE_INTESTINE | 123963532 | 123966268 | 123964219 | 123964219 | Missense_Mutation | G | A | p.E157K |
| CJM_SKIN | 123963532 | 123966268 | 123964237 | 123964237 | Missense_Mutation | G | A | p.V163M |
| HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 123963532 | 123966268 | 123964249 | 123964249 | Missense_Mutation | A | G | p.T167A |
| LNCAPCLONEFGC_PROSTATE | 123963532 | 123966268 | 123964249 | 123964249 | Missense_Mutation | A | G | p.T167A |
| JHU011_UPPER_AERODIGESTIVE_TRACT | 123963532 | 123966268 | 123964255 | 123964255 | Missense_Mutation | G | A | p.G169S |
| RKO_LARGE_INTESTINE | 123963532 | 123966268 | 123964430 | 123964430 | Missense_Mutation | C | T | p.S227L |
| GP2D_LARGE_INTESTINE | 123963532 | 123966268 | 123964552 | 123964552 | Missense_Mutation | A | T | p.N268Y |
| GP5D_LARGE_INTESTINE | 123963532 | 123966268 | 123964552 | 123964552 | Missense_Mutation | A | T | p.N268Y |
| NCIH23_LUNG | 123963532 | 123966268 | 123964564 | 123964564 | Missense_Mutation | G | T | p.D272Y |
| SARC9371_BONE | 123963532 | 123966268 | 123964603 | 123964603 | Missense_Mutation | C | T | p.P285S |
| NALM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 123963532 | 123966268 | 123964734 | 123964734 | Missense_Mutation | G | T | p.E328D |
| ZR751_BREAST | 123963532 | 123966268 | 123964841 | 123964841 | Missense_Mutation | C | T | p.T364M |
| YMB1E_BREAST | 123963532 | 123966268 | 123964841 | 123964841 | Missense_Mutation | C | T | p.T364M |
| NCIH1651_LUNG | 123963532 | 123966268 | 123964857 | 123964857 | Missense_Mutation | G | C | p.Q369H |
| HEC6_ENDOMETRIUM | 123963532 | 123966268 | 123964885 | 123964885 | Missense_Mutation | A | G | p.T379A |
| NCIH820_LUNG | 123963532 | 123966268 | 123964901 | 123964901 | Missense_Mutation | G | T | p.G384V |
| HCT15_LARGE_INTESTINE | 123963532 | 123966268 | 123964990 | 123964990 | Missense_Mutation | G | T | p.A414S |
| MFE319_ENDOMETRIUM | 123963532 | 123966268 | 123964990 | 123964990 | Missense_Mutation | G | T | p.A414S |
| SUDHL6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 123963532 | 123966268 | 123965009 | 123965009 | Missense_Mutation | G | A | p.R420H |
| SNUC5_LARGE_INTESTINE | 123963532 | 123966268 | 123965152 | 123965152 | Missense_Mutation | G | A | p.E468K |
| L33_PANCREAS | 123963532 | 123966268 | 123965174 | 123965174 | Missense_Mutation | T | C | p.V475A |
| LC1F_LUNG | 123963532 | 123966268 | 123965240 | 123965240 | Missense_Mutation | G | A | p.G497D |
| LC1SQSF_LUNG | 123963532 | 123966268 | 123965240 | 123965240 | Missense_Mutation | G | A | p.G497D |
| LC1SQ_LUNG | 123963532 | 123966268 | 123965240 | 123965240 | Missense_Mutation | G | A | p.G497D |
| HEC1_ENDOMETRIUM | 123963532 | 123966268 | 123965246 | 123965246 | Missense_Mutation | T | C | p.V499A |
| HSC1_SKIN | 123963532 | 123966268 | 123965284 | 123965284 | Missense_Mutation | G | A | p.A512T |
| SKM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 123963532 | 123966268 | 123965309 | 123965309 | Missense_Mutation | G | A | p.R520H |
| SNU1040_LARGE_INTESTINE | 123963532 | 123966268 | 123965312 | 123965312 | Missense_Mutation | C | T | p.T521M |
| HARA_LUNG | 123963532 | 123966268 | 123965314 | 123965314 | Missense_Mutation | T | A | p.Y522N |
| KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 123963532 | 123966268 | 123965359 | 123965359 | Missense_Mutation | A | G | p.T537A |
| MOLT3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 123963532 | 123966268 | 123965388 | 123965388 | Missense_Mutation | C | A | p.D546E |
| PACADD161_PANCREAS | 123963532 | 123966268 | 123965624 | 123965624 | Missense_Mutation | C | A | p.S625Y |
| HEC251_ENDOMETRIUM | 123963532 | 123966268 | 123965638 | 123965638 | Missense_Mutation | T | C | p.S630P |
| HEC6_ENDOMETRIUM | 123963532 | 123966268 | 123965687 | 123965687 | Missense_Mutation | C | T | p.T646M |
| LS411N_LARGE_INTESTINE | 123963532 | 123966268 | 123965687 | 123965687 | Missense_Mutation | C | T | p.T646M |
| COLO741_SKIN | 123963532 | 123966268 | 123965734 | 123965734 | Missense_Mutation | G | A | p.A662T |
| MKN74_STOMACH | 123963532 | 123966268 | 123965782 | 123965782 | Missense_Mutation | G | A | p.E678K |
| MOLT16_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 123963532 | 123966268 | 123965917 | 123965917 | Missense_Mutation | G | A | p.G723R |
| COGN278_AUTONOMIC_GANGLIA | 123963532 | 123966268 | 123965923 | 123965923 | Missense_Mutation | G | A | p.D725N |
| MEWO_SKIN | 123963532 | 123966268 | 123965932 | 123965932 | Missense_Mutation | C | T | p.P728S |
| SAS_UPPER_AERODIGESTIVE_TRACT | 123963532 | 123966268 | 123965955 | 123965955 | Missense_Mutation | A | T | p.K735N |
| UACC257_SKIN | 123963532 | 123966268 | 123965963 | 123965963 | Missense_Mutation | G | A | p.C738Y |
| SNU81_LARGE_INTESTINE | 123963532 | 123966268 | 123965965 | 123965965 | Missense_Mutation | G | A | p.E739K |
| LN382_CENTRAL_NERVOUS_SYSTEM | 123963532 | 123966268 | 123965986 | 123965986 | Missense_Mutation | G | T | p.V746L |
| LN229_CENTRAL_NERVOUS_SYSTEM | 123963532 | 123966268 | 123966071 | 123966071 | Missense_Mutation | G | A | p.G774D |
| HEC1_ENDOMETRIUM | 123963532 | 123966268 | 123966153 | 123966153 | Missense_Mutation | G | T | p.E801D |
| NCIH1304_LUNG | 123963532 | 123966268 | 123966154 | 123966154 | Missense_Mutation | G | T | p.D802Y |
| CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 123963532 | 123966268 | 123966254 | 123966254 | Missense_Mutation | G | A | p.G835D |
| NB69_AUTONOMIC_GANGLIA | 123963532 | 123966268 | 123964420 | 123964420 | Nonsense_Mutation | G | T | p.E224* |
| RL952_ENDOMETRIUM | 123963532 | 123966268 | 123965098 | 123965098 | Nonsense_Mutation | C | T | p.Q450* |
| TT_THYROID | 123963532 | 123966268 | 123965341 | 123965341 | Nonsense_Mutation | C | T | p.Q531* |
| HEC251_ENDOMETRIUM | 123963532 | 123966268 | 123965500 | 123965500 | Nonsense_Mutation | C | T | p.R584* |
| JHUEM7_ENDOMETRIUM | 123963532 | 123966268 | 123965500 | 123965500 | Nonsense_Mutation | C | T | p.R584* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ZHX2 |
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 ZHX2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ZHX2 |
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RelatedDrugs for ZHX2 |
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 ZHX2 |
Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |