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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 WDHD1 |
 Gene summary |
| Gene information | Gene symbol | WDHD1 | Gene ID | 11169 |
| Gene name | WD repeat and HMG-box DNA binding protein 1 | |
| Synonyms | AND-1|AND1|CHTF4|CTF4 | |
| Cytomap | 14q22.2-q22.3 | |
| Type of gene | protein-coding | |
| Description | WD repeat and HMG-box DNA-binding protein 1Acidic nucleoplasmic DNA-binding protein 1CTF4, chromosome transmission fidelity factor 4 homolog | |
| Modification date | 20180523 | |
| UniProtAcc | O75717 | |
| Context | PubMed: WDHD1 [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 WDHD1 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 WDHD1 |
| 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 WDHD1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_113455 | 14 | 55408207:55408408:55411049:55411188:55422278:55422412 | 55411049:55411188 | ENSG00000198554.7 | ENST00000420358.2,ENST00000567693.1,ENST00000360586.3,ENST00000421192.1,ENST00000359167.4 |
| exon_skip_113457 | 14 | 55423751:55423922:55424309:55424353:55429215:55429269 | 55424309:55424353 | ENSG00000198554.7 | ENST00000420358.2,ENST00000567693.1,ENST00000360586.3,ENST00000421192.1,ENST00000359167.4 |
| exon_skip_113461 | 14 | 55424309:55424353:55429215:55429269:55429455:55429571 | 55429215:55429269 | ENSG00000198554.7 | ENST00000420358.2,ENST00000567693.1,ENST00000360586.3,ENST00000421192.1,ENST00000359167.4 |
| exon_skip_113462 | 14 | 55448257:55448414:55451440:55451578:55453863:55454105 | 55451440:55451578 | ENSG00000198554.7 | ENST00000420358.2,ENST00000567693.1,ENST00000360586.3,ENST00000421192.1,ENST00000359167.4 |
| exon_skip_113463 | 14 | 55453936:55454105:55455745:55455930:55457930:55458100 | 55455745:55455930 | ENSG00000198554.7 | ENST00000420358.2,ENST00000360586.3,ENST00000421192.1 |
| exon_skip_113464 | 14 | 55455745:55455930:55457930:55458118:55462320:55462531 | 55457930:55458118 | ENSG00000198554.7 | ENST00000420358.2,ENST00000360586.3,ENST00000421192.1 |
| exon_skip_113465 | 14 | 55468810:55468903:55473997:55474093:55475033:55475084 | 55473997:55474093 | ENSG00000198554.7 | ENST00000420358.2,ENST00000360586.3,ENST00000421192.1 |
| exon_skip_113466 | 14 | 55473997:55474093:55475033:55475084:55475325:55475437 | 55475033:55475084 | ENSG00000198554.7 | ENST00000420358.2,ENST00000360586.3,ENST00000421192.1 |
| exon_skip_113467 | 14 | 55477026:55477178:55480202:55480314:55493428:55493521 | 55480202:55480314 | ENSG00000198554.7 | ENST00000360586.3,ENST00000421192.1,ENST00000455555.1 |
| exon_skip_113468 | 14 | 55477026:55477178:55480202:55480314:55493745:55493795 | 55480202:55480314 | ENSG00000198554.7 | ENST00000420358.2 |
| exon_skip_113472 | 14 | 55480202:55480314:55493428:55493521:55493745:55493795 | 55493428:55493521 | ENSG00000198554.7 | ENST00000421192.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for WDHD1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_113455 | 14 | 55408207:55408408:55411049:55411188:55422278:55422412 | 55411049:55411188 | ENSG00000198554.7 | ENST00000360586.3,ENST00000420358.2,ENST00000567693.1,ENST00000359167.4,ENST00000421192.1 |
| exon_skip_113457 | 14 | 55423751:55423922:55424309:55424353:55429215:55429269 | 55424309:55424353 | ENSG00000198554.7 | ENST00000360586.3,ENST00000420358.2,ENST00000567693.1,ENST00000359167.4,ENST00000421192.1 |
| exon_skip_113461 | 14 | 55424309:55424353:55429215:55429269:55429455:55429571 | 55429215:55429269 | ENSG00000198554.7 | ENST00000360586.3,ENST00000420358.2,ENST00000567693.1,ENST00000359167.4,ENST00000421192.1 |
| exon_skip_113462 | 14 | 55448257:55448414:55451440:55451578:55453863:55454105 | 55451440:55451578 | ENSG00000198554.7 | ENST00000360586.3,ENST00000420358.2,ENST00000567693.1,ENST00000359167.4,ENST00000421192.1 |
| exon_skip_113463 | 14 | 55453936:55454105:55455745:55455930:55457930:55458100 | 55455745:55455930 | ENSG00000198554.7 | ENST00000360586.3,ENST00000420358.2,ENST00000421192.1 |
| exon_skip_113464 | 14 | 55455745:55455930:55457930:55458118:55462320:55462531 | 55457930:55458118 | ENSG00000198554.7 | ENST00000360586.3,ENST00000420358.2,ENST00000421192.1 |
| exon_skip_113467 | 14 | 55477026:55477178:55480202:55480314:55493428:55493521 | 55480202:55480314 | ENSG00000198554.7 | ENST00000360586.3,ENST00000421192.1,ENST00000455555.1 |
| exon_skip_113468 | 14 | 55477026:55477178:55480202:55480314:55493745:55493795 | 55480202:55480314 | ENSG00000198554.7 | ENST00000420358.2 |
| exon_skip_113472 | 14 | 55480202:55480314:55493428:55493521:55493745:55493795 | 55493428:55493521 | ENSG00000198554.7 | ENST00000421192.1 |
| 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 WDHD1 |
| 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 |
| ENST00000360586 | 55411049 | 55411188 | Frame-shift |
| ENST00000360586 | 55424309 | 55424353 | Frame-shift |
| ENST00000360586 | 55455745 | 55455930 | Frame-shift |
| ENST00000360586 | 55457930 | 55458118 | Frame-shift |
| ENST00000360586 | 55480202 | 55480314 | Frame-shift |
| ENST00000360586 | 55429215 | 55429269 | In-frame |
| ENST00000360586 | 55451440 | 55451578 | In-frame |
| ENST00000360586 | 55473997 | 55474093 | In-frame |
| ENST00000360586 | 55475033 | 55475084 | 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 |
| ENST00000360586 | 55411049 | 55411188 | Frame-shift |
| ENST00000360586 | 55424309 | 55424353 | Frame-shift |
| ENST00000360586 | 55455745 | 55455930 | Frame-shift |
| ENST00000360586 | 55457930 | 55458118 | Frame-shift |
| ENST00000360586 | 55480202 | 55480314 | Frame-shift |
| ENST00000360586 | 55429215 | 55429269 | In-frame |
| ENST00000360586 | 55451440 | 55451578 | In-frame |
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Infer the effects of exon skipping event on protein functional features for WDHD1 |
| 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 |
| ENST00000360586 | 6013 | 1129 | 55475033 | 55475084 | 520 | 570 | 151 | 168 |
| ENST00000360586 | 6013 | 1129 | 55473997 | 55474093 | 571 | 666 | 168 | 200 |
| ENST00000360586 | 6013 | 1129 | 55451440 | 55451578 | 1835 | 1972 | 589 | 635 |
| ENST00000360586 | 6013 | 1129 | 55429215 | 55429269 | 2714 | 2767 | 882 | 900 |
| 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 |
| ENST00000360586 | 6013 | 1129 | 55451440 | 55451578 | 1835 | 1972 | 589 | 635 |
| ENST00000360586 | 6013 | 1129 | 55429215 | 55429269 | 2714 | 2767 | 882 | 900 |
| 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 |
| O75717 | 151 | 168 | 148 | 155 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5GVA |
| O75717 | 151 | 168 | 160 | 164 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5GVA |
| O75717 | 151 | 168 | 1 | 1129 | Chain | ID=PRO_0000051338;Note=WD repeat and HMG-box DNA-binding protein 1 |
| O75717 | 151 | 168 | 134 | 173 | Repeat | Note=WD 4 |
| O75717 | 151 | 168 | 165 | 168 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5GVA |
| O75717 | 168 | 200 | 169 | 174 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5GVA |
| O75717 | 168 | 200 | 196 | 198 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5GVA |
| O75717 | 168 | 200 | 1 | 1129 | Chain | ID=PRO_0000051338;Note=WD repeat and HMG-box DNA-binding protein 1 |
| O75717 | 168 | 200 | 183 | 185 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5GVA |
| O75717 | 168 | 200 | 134 | 173 | Repeat | Note=WD 4 |
| O75717 | 168 | 200 | 184 | 223 | Repeat | Note=WD 5 |
| O75717 | 168 | 200 | 165 | 168 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5GVA |
| O75717 | 589 | 635 | 599 | 605 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5OGS |
| O75717 | 589 | 635 | 607 | 609 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5OGS |
| O75717 | 589 | 635 | 611 | 618 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5OGS |
| O75717 | 589 | 635 | 627 | 632 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5OGS |
| O75717 | 589 | 635 | 1 | 1129 | Chain | ID=PRO_0000051338;Note=WD repeat and HMG-box DNA-binding protein 1 |
| O75717 | 589 | 635 | 612 | 612 | Sequence conflict | Note=Q->K;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| O75717 | 589 | 635 | 612 | 612 | Sequence conflict | Note=Q->K;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| O75717 | 589 | 635 | 613 | 613 | Sequence conflict | Note=I->K;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| O75717 | 882 | 900 | 1 | 1129 | Chain | ID=PRO_0000051338;Note=WD repeat and HMG-box DNA-binding protein 1 |
| 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 |
| O75717 | 589 | 635 | 599 | 605 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5OGS |
| O75717 | 589 | 635 | 607 | 609 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5OGS |
| O75717 | 589 | 635 | 611 | 618 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5OGS |
| O75717 | 589 | 635 | 627 | 632 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5OGS |
| O75717 | 589 | 635 | 1 | 1129 | Chain | ID=PRO_0000051338;Note=WD repeat and HMG-box DNA-binding protein 1 |
| O75717 | 589 | 635 | 612 | 612 | Sequence conflict | Note=Q->K;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| O75717 | 589 | 635 | 612 | 612 | Sequence conflict | Note=Q->K;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| O75717 | 589 | 635 | 613 | 613 | Sequence conflict | Note=I->K;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| O75717 | 882 | 900 | 1 | 1129 | Chain | ID=PRO_0000051338;Note=WD repeat and HMG-box DNA-binding protein 1 |
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SNVs in the skipped exons for WDHD1 |
| - 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. |
WDHD1_LUAD_exon_skip_113472_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_113462 | 55451441 | 55451578 | 55451475 | 55451475 | Frame_Shift_Del | T | - | p.K624fs |
| COAD | TCGA-F4-6570-01 | exon_skip_113464 | 55457931 | 55458118 | 55457987 | 55457987 | Frame_Shift_Del | G | - | p.R429fs |
| READ | TCGA-EI-6917-01 | exon_skip_113455 | 55411050 | 55411188 | 55411082 | 55411082 | Nonsense_Mutation | G | A | p.R1053X |
| BLCA | TCGA-SY-A9G5-01 | exon_skip_113455 | 55411050 | 55411188 | 55411117 | 55411117 | Nonsense_Mutation | G | C | p.S1041* |
| BLCA | TCGA-DK-AA6W-01 | exon_skip_113457 | 55424310 | 55424353 | 55424327 | 55424327 | Nonsense_Mutation | G | A | p.R910* |
| READ | TCGA-AF-3911-01 | exon_skip_113457 | 55424310 | 55424353 | 55424327 | 55424327 | Nonsense_Mutation | G | A | p.R910X |
| LUAD | TCGA-55-A490-01 | exon_skip_113463 | 55455746 | 55455930 | 55455827 | 55455827 | Nonsense_Mutation | G | C | p.S482* |
| PAAD | TCGA-IB-7651-01 | exon_skip_113463 | 55455746 | 55455930 | 55455901 | 55455901 | Nonsense_Mutation | G | T | p.C457* |
| PAAD | TCGA-IB-7651-01 | exon_skip_113463 | 55455746 | 55455930 | 55455901 | 55455901 | Nonsense_Mutation | G | T | p.C457X |
| PRAD | TCGA-XK-AAIW-01 | exon_skip_113465 | 55473998 | 55474093 | 55474015 | 55474015 | Nonsense_Mutation | G | A | p.Q195* |
| LUAD | TCGA-05-4420-01 | exon_skip_113472 | 55493429 | 55493521 | 55493428 | 55493428 | Splice_Site | C | A | p.S26_splice |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-05-4420-01 |
| Cancer type: LUAD | |
| ESID: exon_skip_113472 | |
| Skipped exon start: 55493429 | |
| Skipped exon end: 55493521 | |
| Mutation start: 55493428 | |
| Mutation end: 55493428 | |
| Mutation type: Splice_Site | |
| Reference seq: C | |
| Mutation seq: A | |
| AAchange: p.S26_splice | |
exon_skip_113472_LUAD_TCGA-05-4420-01.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 |
| KASUMI2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 55411050 | 55411188 | 55411081 | 55411081 | Missense_Mutation | C | T | p.R1053Q |
| SNU201_CENTRAL_NERVOUS_SYSTEM | 55411050 | 55411188 | 55411081 | 55411081 | Missense_Mutation | C | T | p.R1053Q |
| HEC108_ENDOMETRIUM | 55411050 | 55411188 | 55411132 | 55411132 | Missense_Mutation | T | C | p.D1036G |
| DANG_PANCREAS | 55424310 | 55424353 | 55424312 | 55424312 | Missense_Mutation | T | C | p.K915E |
| NCIH211_LUNG | 55429216 | 55429269 | 55429233 | 55429233 | Missense_Mutation | T | A | p.D895V |
| NCIH650_LUNG | 55451441 | 55451578 | 55451456 | 55451456 | Missense_Mutation | C | T | p.G631R |
| PCI15A_UPPER_AERODIGESTIVE_TRACT | 55451441 | 55451578 | 55451470 | 55451470 | Missense_Mutation | T | C | p.Y626C |
| SW156_KIDNEY | 55451441 | 55451578 | 55451505 | 55451505 | Missense_Mutation | C | A | p.L614F |
| KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 55451441 | 55451578 | 55451576 | 55451576 | Missense_Mutation | T | C | p.T591A |
| SKN_ENDOMETRIUM | 55455746 | 55455930 | 55455883 | 55455883 | Missense_Mutation | G | C | p.D463E |
| HEC251_ENDOMETRIUM | 55455746 | 55455930 | 55455914 | 55455914 | Missense_Mutation | C | T | p.G453E |
| CROAP2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 55455746 | 55455930 | 55455914 | 55455914 | Missense_Mutation | C | T | p.G453E |
| NCIH446_LUNG | 55457931 | 55458118 | 55457945 | 55457945 | Missense_Mutation | T | A | p.T443S |
| MCC26_SKIN | 55457931 | 55458118 | 55457989 | 55457990 | Missense_Mutation | GG | AA | p.P428F |
| MCC26_SKIN | 55457931 | 55458118 | 55457989 | 55457989 | Missense_Mutation | G | A | p.P428L |
| MCC26_SKIN | 55457931 | 55458118 | 55457990 | 55457990 | Missense_Mutation | G | A | p.P428S |
| LC1F_LUNG | 55493429 | 55493521 | 55493495 | 55493495 | Missense_Mutation | G | T | p.T4K |
| NCIH1299_LUNG | 55424310 | 55424353 | 55424327 | 55424327 | Nonsense_Mutation | G | A | p.R910* |
| VMRCLCP_LUNG | 55424310 | 55424353 | 55424327 | 55424327 | Nonsense_Mutation | G | A | p.R910* |
| HCC366_LUNG | 55457931 | 55458118 | 55457931 | 55457931 | Splice_Site | C | T | p.M447I |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for WDHD1 |
| 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 WDHD1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for WDHD1 |
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RelatedDrugs for WDHD1 |
| 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 WDHD1 |
| 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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