|
||||||
|
 | |
| |
| |
| |
| 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 HIVEP3 |
 Gene summary |
| Gene information | Gene symbol | HIVEP3 | Gene ID | 59269 |
| Gene name | human immunodeficiency virus type I enhancer binding protein 3 | |
| Synonyms | KBP-1|KBP1|KRC|SHN3|Schnurri-3|ZAS3|ZNF40C | |
| Cytomap | 1p34.2 | |
| Type of gene | protein-coding | |
| Description | transcription factor HIVEP3ZAS family, member 3kappa-B and V(D)J recombination signal sequences-binding proteinkappa-binding protein 1zinc finger protein ZAS3 | |
| Modification date | 20180523 | |
| UniProtAcc | Q5T1R4 | |
| Context | PubMed: HIVEP3 [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 |
| HIVEP3 | GO:0045893 | positive regulation of transcription, DNA-templated | 15790681 |
Top |
Exon skipping events across known transcript of Ensembl for HIVEP3 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 HIVEP3 |
| Expression levels of gene isoforms across TCGA. |
 |
| Expression levels of gene isoforms across GTEx. |
 |
Top |
Exon skipping events with PSIs in TCGA for HIVEP3 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_25567 | 1 | 41984072:41984159:41990405:41990581:42041214:42041360 | 41990405:41990581 | ENSG00000127124.9 | ENST00000372583.1,ENST00000247584.5,ENST00000372584.1,ENST00000429157.2 |
| exon_skip_25569 | 1 | 41984072:41984159:42041214:42041360:42045407:42045571 | 42041214:42041360 | ENSG00000127124.9 | ENST00000460604.1 |
| exon_skip_25580 | 1 | 42041214:42041360:42045407:42050989:42094419:42094618 | 42045407:42050989 | ENSG00000127124.9 | ENST00000372583.1,ENST00000247584.5,ENST00000372584.1,ENST00000429157.2 |
| exon_skip_25588 | 1 | 42313618:42314116:42314541:42314760:42384083:42384169 | 42314541:42314760 | ENSG00000127124.9 | ENST00000491442.1,ENST00000489103.1 |
| exon_skip_25595 | 1 | 42314541:42314760:42330248:42330319:42331218:42331286 | 42330248:42330319 | ENSG00000127124.9 | ENST00000479350.1 |
| exon_skip_25607 | 1 | 42314541:42314760:42384083:42384195:42501477:42501596 | 42384083:42384195 | ENSG00000127124.9 | ENST00000489103.1 |
| PSI values of skipped exons in TCGA. |
 |
Top |
Exon skipping events with PSIs in GTEx for HIVEP3 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_25567 | 1 | 41984072:41984159:41990405:41990581:42041214:42041360 | 41990405:41990581 | ENSG00000127124.9 | ENST00000372583.1,ENST00000372584.1,ENST00000247584.5,ENST00000429157.2 |
| exon_skip_25569 | 1 | 41984072:41984159:42041214:42041360:42045407:42045571 | 42041214:42041360 | ENSG00000127124.9 | ENST00000460604.1 |
| exon_skip_25580 | 1 | 42041214:42041360:42045407:42050989:42094419:42094618 | 42045407:42050989 | ENSG00000127124.9 | ENST00000372583.1,ENST00000372584.1,ENST00000247584.5,ENST00000429157.2 |
| exon_skip_25588 | 1 | 42313618:42314116:42314541:42314760:42384083:42384169 | 42314541:42314760 | ENSG00000127124.9 | ENST00000491442.1,ENST00000489103.1 |
| exon_skip_25607 | 1 | 42314541:42314760:42384083:42384195:42501477:42501596 | 42384083:42384195 | ENSG00000127124.9 | ENST00000489103.1 |
| PSI values of skipped exons in GTEx. |
 |
| * Skipped exon sequences. |
Top |
Open reading frame (ORF) annotation in the exon skipping event for HIVEP3 |
| 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 |
| ENST00000372583 | 42045407 | 42050989 | 3UTR-3CDS |
| ENST00000372583 | 41990405 | 41990581 | 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 |
| ENST00000372583 | 42045407 | 42050989 | 3UTR-3CDS |
| ENST00000372583 | 41990405 | 41990581 | Frame-shift |
Top |
Infer the effects of exon skipping event on protein functional features for HIVEP3 |
| 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 |
| 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 |
Top |
SNVs in the skipped exons for HIVEP3 |
| - 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-A39Y-01 | exon_skip_25580 | 42045408 | 42050989 | 42045419 | 42045419 | Frame_Shift_Del | G | - | p.R1684fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_25580 | 42045408 | 42050989 | 42046378 | 42046378 | Frame_Shift_Del | T | - | p.K1364fs |
| UCEC | TCGA-A5-A0GH-01 | exon_skip_25580 | 42045408 | 42050989 | 42046807 | 42046807 | Frame_Shift_Del | G | - | p.P1221fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_25580 | 42045408 | 42050989 | 42047047 | 42047047 | Frame_Shift_Del | G | - | p.P1142fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_25580 | 42045408 | 42050989 | 42047305 | 42047305 | Frame_Shift_Del | G | - | p.P1055fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_25580 | 42045408 | 42050989 | 42047343 | 42047343 | Frame_Shift_Del | T | - | p.K1042fs |
| HNSC | TCGA-CN-A63U-01 | exon_skip_25580 | 42045408 | 42050989 | 42047689 | 42047689 | Frame_Shift_Del | G | - | p.P927fs |
| LUAD | TCGA-50-5049-01 | exon_skip_25580 | 42045408 | 42050989 | 42047882 | 42047882 | Frame_Shift_Del | C | - | p.E863fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_25580 | 42045408 | 42050989 | 42047974 | 42047974 | Frame_Shift_Del | G | - | p.P833fs |
| HNSC | TCGA-DQ-5625-01 | exon_skip_25580 | 42045408 | 42050989 | 42048048 | 42048048 | Frame_Shift_Del | C | - | p.E807fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_25580 | 42045408 | 42050989 | 42048447 | 42048447 | Frame_Shift_Del | G | - | p.P674fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_25580 | 42045408 | 42050989 | 42048636 | 42048636 | Frame_Shift_Del | T | - | p.K611fs |
| HNSC | TCGA-CV-A45W-01 | exon_skip_25580 | 42045408 | 42050989 | 42048654 | 42048654 | Frame_Shift_Del | C | - | p.E605fs |
| STAD | TCGA-HU-A4G9-01 | exon_skip_25580 | 42045408 | 42050989 | 42048716 | 42048716 | Frame_Shift_Del | G | - | p.R585fs |
| STAD | TCGA-BR-4363-01 | exon_skip_25580 | 42045408 | 42050989 | 42048809 | 42048809 | Frame_Shift_Del | G | - | p.H554fs |
| STAD | TCGA-CG-5723-01 | exon_skip_25580 | 42045408 | 42050989 | 42048809 | 42048809 | Frame_Shift_Del | G | - | p.H554fs |
| STAD | TCGA-HU-A4GQ-01 | exon_skip_25580 | 42045408 | 42050989 | 42048809 | 42048809 | Frame_Shift_Del | G | - | p.H554fs |
| UCEC | TCGA-D1-A0ZO-01 | exon_skip_25580 | 42045408 | 42050989 | 42048867 | 42048867 | Frame_Shift_Del | A | - | p.P534fs |
| HNSC | TCGA-CV-A6K1-01 | exon_skip_25580 | 42045408 | 42050989 | 42048868 | 42048868 | Frame_Shift_Del | G | - | p.P534fs |
| STAD | TCGA-BR-8361-01 | exon_skip_25580 | 42045408 | 42050989 | 42048868 | 42048868 | Frame_Shift_Del | G | - | p.P534fs |
| STAD | TCGA-CG-5721-01 | exon_skip_25580 | 42045408 | 42050989 | 42048868 | 42048868 | Frame_Shift_Del | G | - | p.P534fs |
| STAD | TCGA-HU-A4H8-01 | exon_skip_25580 | 42045408 | 42050989 | 42048868 | 42048868 | Frame_Shift_Del | G | - | p.P534fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_25580 | 42045408 | 42050989 | 42048970 | 42048970 | Frame_Shift_Del | G | - | p.P500fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_25580 | 42045408 | 42050989 | 42049097 | 42049097 | Frame_Shift_Del | G | - | p.R458fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_25580 | 42045408 | 42050989 | 42049453 | 42049453 | Frame_Shift_Del | G | - | p.P340fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_25580 | 42045408 | 42050989 | 42049453 | 42049453 | Frame_Shift_Del | G | - | p.P340fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_25580 | 42045408 | 42050989 | 42049797 | 42049797 | Frame_Shift_Del | G | - | p.P224fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_25580 | 42045408 | 42050989 | 42050097 | 42050097 | Frame_Shift_Del | G | - | p.P124fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_25580 | 42045408 | 42050989 | 42050249 | 42050249 | Frame_Shift_Del | T | - | p.T74fs |
| LIHC | TCGA-DD-A3A1-01 | exon_skip_25580 | 42045408 | 42050989 | 42050295 | 42050295 | Frame_Shift_Del | G | - | p.P58fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_25580 | 42045408 | 42050989 | 42050356 | 42050356 | Frame_Shift_Del | G | - | p.P38fs |
| STAD | TCGA-CD-5800-01 | exon_skip_25567 | 41990406 | 41990581 | 41990509 | 41990510 | Frame_Shift_Ins | - | C | p.G1760fs |
| STAD | TCGA-CD-5800-01 | exon_skip_25567 | 41990406 | 41990581 | 41990510 | 41990511 | Frame_Shift_Ins | - | C | p.G1760fs |
| STAD | TCGA-BR-8487-01 | exon_skip_25580 | 42045408 | 42050989 | 42046123 | 42046124 | Frame_Shift_Ins | - | T | p.R1449fs |
| STAD | TCGA-BR-8487-01 | exon_skip_25580 | 42045408 | 42050989 | 42046124 | 42046125 | Frame_Shift_Ins | - | T | p.R1449fs |
| KIRP | TCGA-MH-A856-01 | exon_skip_25580 | 42045408 | 42050989 | 42047342 | 42047343 | Frame_Shift_Ins | - | T | p.C1043fs |
| LUAD | TCGA-MN-A4N5-01 | exon_skip_25580 | 42045408 | 42050989 | 42048440 | 42048441 | Frame_Shift_Ins | - | A | p.R677fs |
| COAD | TCGA-AA-3713-01 | exon_skip_25580 | 42045408 | 42050989 | 42048867 | 42048868 | Frame_Shift_Ins | - | G | p.P534fs |
| LUAD | TCGA-44-2656-01 | exon_skip_25580 | 42045408 | 42050989 | 42048867 | 42048868 | Frame_Shift_Ins | - | G | p.P534fs |
| LUAD | TCGA-86-A4JF-01 | exon_skip_25580 | 42045408 | 42050989 | 42048867 | 42048868 | Frame_Shift_Ins | - | G | p.R534fs |
| STAD | TCGA-BR-6452-01 | exon_skip_25580 | 42045408 | 42050989 | 42050006 | 42050007 | Frame_Shift_Ins | - | G | p.E155fs |
| UCEC | TCGA-AP-A056-01 | exon_skip_25567 | 41990406 | 41990581 | 41990565 | 41990565 | Nonsense_Mutation | C | A | p.E1742* |
| HNSC | TCGA-P3-A5QF-01 | exon_skip_25580 | 42045408 | 42050989 | 42045958 | 42045958 | Nonsense_Mutation | G | C | p.S1504* |
| SARC | TCGA-DX-A8BH-01 | exon_skip_25580 | 42045408 | 42050989 | 42046088 | 42046088 | Nonsense_Mutation | T | A | p.K1461* |
| SKCM | TCGA-WE-A8ZM-06 | exon_skip_25580 | 42045408 | 42050989 | 42046499 | 42046499 | Nonsense_Mutation | G | A | p.Q1324* |
| STAD | TCGA-BR-6452-01 | exon_skip_25580 | 42045408 | 42050989 | 42046988 | 42046988 | Nonsense_Mutation | C | A | p.E1161* |
| LUSC | TCGA-22-0944-01 | exon_skip_25580 | 42045408 | 42050989 | 42048314 | 42048314 | Nonsense_Mutation | T | A | p.K719* |
| CESC | TCGA-EK-A2H0-01 | exon_skip_25580 | 42045408 | 42050989 | 42048469 | 42048469 | Nonsense_Mutation | G | C | p.S667* |
| UCEC | TCGA-BG-A0VZ-01 | exon_skip_25580 | 42045408 | 42050989 | 42048495 | 42048495 | Nonsense_Mutation | G | C | p.Y658* |
| LUAD | TCGA-78-8662-01 | exon_skip_25580 | 42045408 | 42050989 | 42048659 | 42048659 | Nonsense_Mutation | C | A | p.E604* |
| LGG | TCGA-HT-7483-01 | exon_skip_25580 | 42045408 | 42050989 | 42049199 | 42049199 | Nonsense_Mutation | G | A | p.R424* |
| LGG | TCGA-HT-7483-01 | exon_skip_25580 | 42045408 | 42050989 | 42049199 | 42049199 | Nonsense_Mutation | G | A | p.R424X |
| LUSC | TCGA-85-6175-01 | exon_skip_25580 | 42045408 | 42050989 | 42049199 | 42049199 | Nonsense_Mutation | G | A | p.R424* |
| OV | TCGA-59-2355-01 | exon_skip_25580 | 42045408 | 42050989 | 42049463 | 42049463 | Nonsense_Mutation | C | A | p.E336* |
| - 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 |
| KYSE450_OESOPHAGUS | 42045408 | 42050989 | 42047275 | 42047275 | Frame_Shift_Del | C | - | p.G1065fs |
| HEC59_ENDOMETRIUM | 42045408 | 42050989 | 42047755 | 42047755 | Frame_Shift_Del | T | - | p.K906fs |
| WSUNHL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 42045408 | 42050989 | 42048868 | 42048868 | Frame_Shift_Del | G | - | p.P534fs |
| LS411N_LARGE_INTESTINE | 42045408 | 42050989 | 42050007 | 42050007 | Frame_Shift_Del | G | - | p.P154fs |
| MFE319_ENDOMETRIUM | 42045408 | 42050989 | 42046123 | 42046124 | Frame_Shift_Ins | - | T | p.R1449fs |
| EN_ENDOMETRIUM | 42045408 | 42050989 | 42046123 | 42046124 | Frame_Shift_Ins | - | T | p.R1449fs |
| 253JBV_URINARY_TRACT | 42045408 | 42050989 | 42046123 | 42046124 | Frame_Shift_Ins | - | T | p.R1449fs |
| OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 42045408 | 42050989 | 42046123 | 42046124 | Frame_Shift_Ins | - | T | p.R1449fs |
| SNU1079_BILIARY_TRACT | 42045408 | 42050989 | 42046123 | 42046124 | Frame_Shift_Ins | - | T | p.R1449fs |
| SNU668_STOMACH | 42045408 | 42050989 | 42046123 | 42046124 | Frame_Shift_Ins | - | T | p.R1449fs |
| HCC1438_LUNG | 42045408 | 42050989 | 42046849 | 42046850 | Frame_Shift_Ins | - | G | p.Q1207fs |
| NCIH1734_LUNG | 41990406 | 41990581 | 41990462 | 41990462 | Missense_Mutation | T | G | p.H1776P |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 41990406 | 41990581 | 41990531 | 41990531 | Missense_Mutation | T | C | p.K1753R |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 41990406 | 41990581 | 41990531 | 41990531 | Missense_Mutation | T | C | p.K1753R |
| SKGIIIA_CERVIX | 41990406 | 41990581 | 41990543 | 41990543 | Missense_Mutation | C | T | p.R1749H |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 41990406 | 41990581 | 41990559 | 41990559 | Missense_Mutation | C | T | p.V1744I |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 41990406 | 41990581 | 41990559 | 41990559 | Missense_Mutation | C | T | p.V1744I |
| TE6_OESOPHAGUS | 42045408 | 42050989 | 42045416 | 42045416 | Missense_Mutation | T | C | p.M1685V |
| 639V_URINARY_TRACT | 42045408 | 42050989 | 42045418 | 42045418 | Missense_Mutation | C | T | p.R1684H |
| HT115_LARGE_INTESTINE | 42045408 | 42050989 | 42045520 | 42045520 | Missense_Mutation | A | G | p.L1650P |
| HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 42045408 | 42050989 | 42045524 | 42045524 | Missense_Mutation | A | G | p.S1649P |
| SNU81_LARGE_INTESTINE | 42045408 | 42050989 | 42045647 | 42045647 | Missense_Mutation | A | G | p.Y1608H |
| IGROV1_OVARY | 42045408 | 42050989 | 42045674 | 42045674 | Missense_Mutation | G | A | p.H1599Y |
| KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 42045408 | 42050989 | 42045833 | 42045833 | Missense_Mutation | A | C | p.L1546V |
| MDAPCA2B_PROSTATE | 42045408 | 42050989 | 42045837 | 42045837 | Missense_Mutation | T | G | p.R1544S |
| RKO_LARGE_INTESTINE | 42045408 | 42050989 | 42045871 | 42045871 | Missense_Mutation | T | C | p.E1533G |
| SW13_ADRENAL_CORTEX | 42045408 | 42050989 | 42046199 | 42046199 | Missense_Mutation | T | A | p.T1424S |
| NCIH510_LUNG | 42045408 | 42050989 | 42046360 | 42046360 | Missense_Mutation | C | A | p.G1370V |
| HEC6_ENDOMETRIUM | 42045408 | 42050989 | 42046517 | 42046517 | Missense_Mutation | C | G | p.V1318L |
| HEC6_ENDOMETRIUM | 42045408 | 42050989 | 42046694 | 42046694 | Missense_Mutation | G | A | p.P1259S |
| MM370_SKIN | 42045408 | 42050989 | 42046790 | 42046790 | Missense_Mutation | G | A | p.P1227S |
| MCC26_SKIN | 42045408 | 42050989 | 42046823 | 42046823 | Missense_Mutation | G | A | p.P1216S |
| L428_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 42045408 | 42050989 | 42046924 | 42046924 | Missense_Mutation | G | T | p.P1182H |
| SCLC22H_LUNG | 42045408 | 42050989 | 42046943 | 42046943 | Missense_Mutation | A | T | p.Y1176N |
| SCLC21H_LUNG | 42045408 | 42050989 | 42046943 | 42046943 | Missense_Mutation | A | T | p.Y1176N |
| H290_PLEURA | 42045408 | 42050989 | 42046979 | 42046979 | Missense_Mutation | A | G | p.S1164P |
| SNU81_LARGE_INTESTINE | 42045408 | 42050989 | 42046983 | 42046983 | Missense_Mutation | G | T | p.F1162L |
| HPBALL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 42045408 | 42050989 | 42047015 | 42047015 | Missense_Mutation | C | T | p.V1152M |
| NCIH2073_LUNG | 42045408 | 42050989 | 42047015 | 42047015 | Missense_Mutation | C | T | p.V1152M |
| NCIH1993_LUNG | 42045408 | 42050989 | 42047015 | 42047015 | Missense_Mutation | C | T | p.V1152M |
| SNU1_STOMACH | 42045408 | 42050989 | 42047047 | 42047047 | Missense_Mutation | G | A | p.P1141L |
| LCLC97TM1_LUNG | 42045408 | 42050989 | 42047084 | 42047084 | Missense_Mutation | C | A | p.A1129S |
| CTB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 42045408 | 42050989 | 42047087 | 42047087 | Missense_Mutation | C | A | p.V1128F |
| SW48_LARGE_INTESTINE | 42045408 | 42050989 | 42047123 | 42047123 | Missense_Mutation | G | A | p.P1116S |
| MM426_SKIN | 42045408 | 42050989 | 42047159 | 42047159 | Missense_Mutation | G | A | p.P1104S |
| G402_SOFT_TISSUE | 42045408 | 42050989 | 42047168 | 42047168 | Missense_Mutation | C | T | p.G1101S |
| ME180_CERVIX | 42045408 | 42050989 | 42047245 | 42047245 | Missense_Mutation | G | A | p.S1075L |
| NCIH630_LARGE_INTESTINE | 42045408 | 42050989 | 42047270 | 42047270 | Missense_Mutation | G | T | p.Q1067K |
| CW2_LARGE_INTESTINE | 42045408 | 42050989 | 42047289 | 42047289 | Missense_Mutation | C | A | p.E1060D |
| NEC8_TESTIS | 42045408 | 42050989 | 42047363 | 42047363 | Missense_Mutation | C | T | p.A1036T |
| RS411_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 42045408 | 42050989 | 42047443 | 42047443 | Missense_Mutation | C | T | p.R1009H |
| HT55_LARGE_INTESTINE | 42045408 | 42050989 | 42047523 | 42047523 | Missense_Mutation | G | T | p.H982Q |
| DG75_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 42045408 | 42050989 | 42047569 | 42047569 | Missense_Mutation | C | T | p.R967H |
| ES4_BONE | 42045408 | 42050989 | 42047585 | 42047585 | Missense_Mutation | G | A | p.P962S |
| HEC1A_ENDOMETRIUM | 42045408 | 42050989 | 42047593 | 42047593 | Missense_Mutation | G | C | p.A959G |
| SW684_SOFT_TISSUE | 42045408 | 42050989 | 42047615 | 42047616 | Missense_Mutation | CC | TT | p.D952N |
| MC116_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 42045408 | 42050989 | 42047626 | 42047626 | Missense_Mutation | G | A | p.S948L |
| KYSE410_OESOPHAGUS | 42045408 | 42050989 | 42047649 | 42047649 | Missense_Mutation | C | A | p.L940F |
| HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 42045408 | 42050989 | 42047743 | 42047743 | Missense_Mutation | C | T | p.R909H |
| NCIH2286_LUNG | 42045408 | 42050989 | 42047749 | 42047749 | Missense_Mutation | C | A | p.R907M |
| SNU1077_ENDOMETRIUM | 42045408 | 42050989 | 42047764 | 42047764 | Missense_Mutation | G | T | p.P902Q |
| DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 42045408 | 42050989 | 42047783 | 42047783 | Missense_Mutation | G | A | p.L896F |
| NCIH2342_LUNG | 42045408 | 42050989 | 42047825 | 42047825 | Missense_Mutation | C | T | p.E882K |
| CP66MEL_SKIN | 42045408 | 42050989 | 42047855 | 42047855 | Missense_Mutation | C | T | p.E872K |
| MOLT3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 42045408 | 42050989 | 42047893 | 42047893 | Missense_Mutation | A | G | p.L859P |
| HMC18_BREAST | 42045408 | 42050989 | 42048037 | 42048037 | Missense_Mutation | G | T | p.S811Y |
| SNU1_STOMACH | 42045408 | 42050989 | 42048053 | 42048053 | Missense_Mutation | A | C | p.F806V |
| TT_THYROID | 42045408 | 42050989 | 42048061 | 42048061 | Missense_Mutation | G | T | p.T803N |
| LXF289_LUNG | 42045408 | 42050989 | 42048188 | 42048188 | Missense_Mutation | T | G | p.S761R |
| NCIH1573_LUNG | 42045408 | 42050989 | 42048250 | 42048250 | Missense_Mutation | G | T | p.P740H |
| HGC27_STOMACH | 42045408 | 42050989 | 42048274 | 42048274 | Missense_Mutation | G | C | p.S732C |
| KYSE180_OESOPHAGUS | 42045408 | 42050989 | 42048347 | 42048347 | Missense_Mutation | C | T | p.E708K |
| LNZTA3WT4_CENTRAL_NERVOUS_SYSTEM | 42045408 | 42050989 | 42048371 | 42048371 | Missense_Mutation | G | A | p.H700Y |
| NCC021_KIDNEY | 42045408 | 42050989 | 42048400 | 42048400 | Missense_Mutation | A | G | p.I690T |
| HEC251_ENDOMETRIUM | 42045408 | 42050989 | 42048518 | 42048518 | Missense_Mutation | G | A | p.R651W |
| JHH7_LIVER | 42045408 | 42050989 | 42048628 | 42048628 | Missense_Mutation | G | A | p.A614V |
| MEC1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 42045408 | 42050989 | 42048664 | 42048664 | Missense_Mutation | C | G | p.S602T |
| NCIH1435_LUNG | 42045408 | 42050989 | 42048674 | 42048674 | Missense_Mutation | C | A | p.G599W |
| MN60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 42045408 | 42050989 | 42048711 | 42048711 | Missense_Mutation | C | T | p.M586I |
| TE1_OESOPHAGUS | 42045408 | 42050989 | 42048734 | 42048734 | Missense_Mutation | C | A | p.V579L |
| IGR1_SKIN | 42045408 | 42050989 | 42048746 | 42048746 | Missense_Mutation | G | C | p.H575D |
| RERFLCSQ1_LUNG | 42045408 | 42050989 | 42048748 | 42048748 | Missense_Mutation | C | T | p.S574N |
| OV90_OVARY | 42045408 | 42050989 | 42048758 | 42048758 | Missense_Mutation | C | T | p.E571K |
| NCIH841_LUNG | 42045408 | 42050989 | 42048758 | 42048758 | Missense_Mutation | C | T | p.E571K |
| P30OHK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 42045408 | 42050989 | 42048808 | 42048808 | Missense_Mutation | T | G | p.H554P |
| LMSU_STOMACH | 42045408 | 42050989 | 42048830 | 42048830 | Missense_Mutation | C | T | p.A547T |
| IGROV1_OVARY | 42045408 | 42050989 | 42048832 | 42048832 | Missense_Mutation | G | A | p.A546V |
| CAL148_BREAST | 42045408 | 42050989 | 42048835 | 42048835 | Missense_Mutation | G | A | p.S545F |
| OVSAHO_OVARY | 42045408 | 42050989 | 42048911 | 42048911 | Missense_Mutation | G | T | p.Q520K |
| EWS502_BONE | 42045408 | 42050989 | 42048978 | 42048978 | Missense_Mutation | C | T | p.M497I |
| CW2_LARGE_INTESTINE | 42045408 | 42050989 | 42048997 | 42048997 | Missense_Mutation | A | G | p.L491P |
| IGROV1_OVARY | 42045408 | 42050989 | 42049016 | 42049016 | Missense_Mutation | T | C | p.K485E |
| BT20_BREAST | 42045408 | 42050989 | 42049238 | 42049238 | Missense_Mutation | C | T | p.A411T |
| BC3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 42045408 | 42050989 | 42049277 | 42049277 | Missense_Mutation | C | G | p.E398Q |
| HCT15_LARGE_INTESTINE | 42045408 | 42050989 | 42049318 | 42049318 | Missense_Mutation | C | T | p.G384D |
| SNU1040_LARGE_INTESTINE | 42045408 | 42050989 | 42049324 | 42049324 | Missense_Mutation | C | T | p.S382N |
| HEC6_ENDOMETRIUM | 42045408 | 42050989 | 42049333 | 42049333 | Missense_Mutation | G | A | p.A379V |
| JHUEM7_ENDOMETRIUM | 42045408 | 42050989 | 42049393 | 42049393 | Missense_Mutation | G | T | p.T359K |
| CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 42045408 | 42050989 | 42049501 | 42049501 | Missense_Mutation | C | T | p.R323H |
| LN319_CENTRAL_NERVOUS_SYSTEM | 42045408 | 42050989 | 42049502 | 42049502 | Missense_Mutation | G | A | p.R323C |
| SUDHL6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 42045408 | 42050989 | 42049610 | 42049610 | Missense_Mutation | C | T | p.E287K |
| SW1116_LARGE_INTESTINE | 42045408 | 42050989 | 42049700 | 42049700 | Missense_Mutation | C | T | p.E257K |
| SNU407_LARGE_INTESTINE | 42045408 | 42050989 | 42049744 | 42049744 | Missense_Mutation | T | C | p.H242R |
| SNU81_LARGE_INTESTINE | 42045408 | 42050989 | 42049766 | 42049766 | Missense_Mutation | G | T | p.L235I |
| SNU81_LARGE_INTESTINE | 42045408 | 42050989 | 42049835 | 42049835 | Missense_Mutation | G | A | p.R212C |
| KMOE2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 42045408 | 42050989 | 42049871 | 42049871 | Missense_Mutation | G | T | p.P200T |
| JHH5_LIVER | 42045408 | 42050989 | 42049963 | 42049963 | Missense_Mutation | G | C | p.S169C |
| HEC50B_ENDOMETRIUM | 42045408 | 42050989 | 42049984 | 42049984 | Missense_Mutation | T | C | p.K162R |
| COLO792_SKIN | 42045408 | 42050989 | 42050009 | 42050009 | Missense_Mutation | G | A | p.P154S |
| SARC9371_BONE | 42045408 | 42050989 | 42050012 | 42050012 | Missense_Mutation | G | A | p.P153S |
| SHP77_LUNG | 42045408 | 42050989 | 42050213 | 42050213 | Missense_Mutation | T | C | p.I86V |
| MSTO211H_PLEURA | 42045408 | 42050989 | 42050221 | 42050221 | Missense_Mutation | C | A | p.R83M |
| GMS10_CENTRAL_NERVOUS_SYSTEM | 42045408 | 42050989 | 42050233 | 42050233 | Missense_Mutation | T | C | p.K79R |
| AN3CA_ENDOMETRIUM | 42045408 | 42050989 | 42050249 | 42050249 | Missense_Mutation | T | C | p.T74A |
| HEC59_ENDOMETRIUM | 42045408 | 42050989 | 42050347 | 42050347 | Missense_Mutation | C | T | p.G41D |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 42045408 | 42050989 | 42050427 | 42050427 | Missense_Mutation | C | A | p.E14D |
| KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 42045408 | 42050989 | 42045938 | 42045938 | Nonsense_Mutation | C | A | p.E1511* |
| HCC2998_LARGE_INTESTINE | 42045408 | 42050989 | 42049199 | 42049199 | Nonsense_Mutation | G | A | p.R424* |
| SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 42045408 | 42050989 | 42049199 | 42049199 | Nonsense_Mutation | G | A | p.R424* |
| IPC298_SKIN | 42041215 | 42041360 | 42041215 | 42041215 | Splice_Site | C | T | p.G1736E |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for HIVEP3 |
| 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 HIVEP3 |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for HIVEP3 |
Top |
RelatedDrugs for HIVEP3 |
| 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 HIVEP3 |
| 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)
|