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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 NOTCH4 |
 Gene summary |
| Gene information | Gene symbol | NOTCH4 | Gene ID | 4855 |
| Gene name | notch 4 | |
| Synonyms | INT3 | |
| Cytomap | 6p21.32 | |
| Type of gene | protein-coding | |
| Description | neurogenic locus notch homolog protein 4Notch homolog 4 | |
| Modification date | 20180522 | |
| UniProtAcc | Q99466 | |
| Context | PubMed: NOTCH4 [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 |
| NOTCH4 | GO:0030879 | mammary gland development | 9576833 |
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Exon skipping events across known transcript of Ensembl for NOTCH4 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 NOTCH4 |
| 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 NOTCH4 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_458128 | 6 | 32163398:32163927:32164100:32164198:32164701:32164754 | 32164100:32164198 | ENSG00000204301.5 | ENST00000375023.3,ENST00000474612.1 |
| exon_skip_458132 | 6 | 32166434:32166507:32166702:32166922:32168607:32168783 | 32166702:32166922 | ENSG00000204301.5 | ENST00000375023.3,ENST00000474612.1 |
| exon_skip_458137 | 6 | 32168607:32168783:32168893:32169277:32169852:32169923 | 32168893:32169277 | ENSG00000204301.5 | ENST00000375023.3 |
| exon_skip_458157 | 6 | 32169188:32169277:32169852:32170376:32171546:32171659 | 32169852:32170376 | ENSG00000204301.5 | ENST00000375023.3 |
| exon_skip_458160 | 6 | 32180250:32180404:32180600:32180688:32180911:32180995 | 32180600:32180688 | ENSG00000204301.5 | ENST00000375023.3 |
| exon_skip_458161 | 6 | 32183002:32183162:32184721:32184844:32184929:32185043 | 32184721:32184844 | ENSG00000204301.5 | ENST00000375023.3 |
| exon_skip_458164 | 6 | 32187905:32188061:32188181:32188418:32188532:32188655 | 32188181:32188418 | ENSG00000204301.5 | ENST00000375023.3,ENST00000473562.1 |
| exon_skip_458166 | 6 | 32188532:32188655:32188754:32189102:32190287:32190583 | 32188754:32189102 | ENSG00000204301.5 | ENST00000375023.3,ENST00000473562.1 |
| exon_skip_458169 | 6 | 32190287:32190583:32190781:32190863:32191632:32191834 | 32190781:32190863 | ENSG00000204301.5 | ENST00000375023.3,ENST00000473562.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for NOTCH4 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_458128 | 6 | 32163398:32163927:32164100:32164198:32164701:32164754 | 32164100:32164198 | ENSG00000204301.5 | ENST00000474612.1,ENST00000375023.3 |
| exon_skip_458132 | 6 | 32166434:32166507:32166702:32166922:32168607:32168783 | 32166702:32166922 | ENSG00000204301.5 | ENST00000474612.1,ENST00000375023.3 |
| exon_skip_458137 | 6 | 32168607:32168783:32168893:32169277:32169852:32169923 | 32168893:32169277 | ENSG00000204301.5 | ENST00000375023.3 |
| exon_skip_458157 | 6 | 32169188:32169277:32169852:32170376:32171546:32171659 | 32169852:32170376 | ENSG00000204301.5 | ENST00000375023.3 |
| exon_skip_458160 | 6 | 32180250:32180404:32180600:32180688:32180911:32180995 | 32180600:32180688 | ENSG00000204301.5 | ENST00000375023.3 |
| exon_skip_458161 | 6 | 32183002:32183162:32184721:32184844:32184929:32185043 | 32184721:32184844 | ENSG00000204301.5 | ENST00000375023.3 |
| exon_skip_458164 | 6 | 32187905:32188061:32188181:32188418:32188532:32188655 | 32188181:32188418 | ENSG00000204301.5 | ENST00000375023.3,ENST00000473562.1 |
| exon_skip_458166 | 6 | 32188532:32188655:32188754:32189102:32190287:32190583 | 32188754:32189102 | ENSG00000204301.5 | ENST00000375023.3,ENST00000473562.1 |
| exon_skip_458169 | 6 | 32190287:32190583:32190781:32190863:32191632:32191834 | 32190781:32190863 | ENSG00000204301.5 | ENST00000375023.3,ENST00000473562.1 |
| 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 NOTCH4 |
| 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 |
| 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 |
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Infer the effects of exon skipping event on protein functional features for NOTCH4 |
| 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 NOTCH4 |
| - 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 |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_458128 | 32164101 | 32164198 | 32164112 | 32164112 | Frame_Shift_Del | G | - | p.Q1763fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_458132 | 32166703 | 32166922 | 32166916 | 32166916 | Frame_Shift_Del | G | - | p.P1441fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_458132 | 32166703 | 32166922 | 32166916 | 32166916 | Frame_Shift_Del | G | - | p.P1441fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_458132 | 32166703 | 32166922 | 32166916 | 32166916 | Frame_Shift_Del | G | - | p.P1441fs |
| KIRP | TCGA-2Z-A9JS-01 | exon_skip_458137 | 32168894 | 32169277 | 32168924 | 32168937 | Frame_Shift_Del | AGGGGCTGCGTTTG | - | p.1366_1370del |
| UCEC | TCGA-A5-A0GA-01 | exon_skip_458137 | 32168894 | 32169277 | 32169116 | 32169116 | Frame_Shift_Del | G | - | p.P1306fs |
| LIHC | TCGA-BC-A3KG-01 | exon_skip_458157 | 32169853 | 32170376 | 32170147 | 32170147 | Frame_Shift_Del | C | - | p.G1154fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_458157 | 32169853 | 32170376 | 32170147 | 32170147 | Frame_Shift_Del | C | - | p.G1154fs |
| READ | TCGA-EI-6882-01 | exon_skip_458157 | 32169853 | 32170376 | 32170147 | 32170147 | Frame_Shift_Del | C | - | p.G1154fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_458157 | 32169853 | 32170376 | 32170291 | 32170291 | Frame_Shift_Del | G | - | p.P1106fs |
| LGG | TCGA-DU-7290-01 | exon_skip_458160 | 32180601 | 32180688 | 32180628 | 32180628 | Frame_Shift_Del | G | - | p.P833fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_458160 | 32180601 | 32180688 | 32180685 | 32180685 | Frame_Shift_Del | G | - | p.P814fs |
| STAD | TCGA-BR-8361-01 | exon_skip_458164 | 32188182 | 32188418 | 32188297 | 32188297 | Frame_Shift_Del | G | - | p.G349fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_458169 | 32190782 | 32190863 | 32190829 | 32190829 | Frame_Shift_Del | G | - | p.A36fs |
| COAD | TCGA-G4-6320-01 | exon_skip_458164 | 32188182 | 32188418 | 32188294 | 32188295 | Frame_Shift_Ins | - | C | p.G349fs |
| SKCM | TCGA-D3-A8GM-06 | exon_skip_458164 | 32188182 | 32188418 | 32188294 | 32188295 | Frame_Shift_Ins | - | C | p.D349fs |
| STAD | TCGA-CD-A4MG-01 | exon_skip_458164 | 32188182 | 32188418 | 32188294 | 32188295 | Frame_Shift_Ins | - | C | p.G349fs |
| STAD | TCGA-HU-A4GQ-01 | exon_skip_458164 | 32188182 | 32188418 | 32188294 | 32188295 | Frame_Shift_Ins | - | C | p.G349fs |
| STAD | TCGA-HU-A4GQ-01 | exon_skip_458164 | 32188182 | 32188418 | 32188295 | 32188296 | Frame_Shift_Ins | - | C | p.G349fs |
| BLCA | TCGA-4Z-AA83-01 | exon_skip_458128 | 32164101 | 32164198 | 32164180 | 32164180 | Nonsense_Mutation | C | T | p.W1740* |
| SKCM | TCGA-DA-A95Z-06 | exon_skip_458132 | 32166703 | 32166922 | 32166908 | 32166908 | Nonsense_Mutation | G | A | p.Q1444* |
| SKCM | TCGA-QB-AA9O-06 | exon_skip_458137 | 32168894 | 32169277 | 32169050 | 32169050 | Nonsense_Mutation | C | T | p.W1328* |
| - 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 |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 32166703 | 32166922 | 32166784 | 32166784 | Frame_Shift_Del | G | - | p.P1485fs |
| SNUC4_LARGE_INTESTINE | 32166703 | 32166922 | 32166916 | 32166916 | Frame_Shift_Del | G | - | p.P1441fs |
| OVK18_OVARY | 32169853 | 32170376 | 32170147 | 32170147 | Frame_Shift_Del | C | - | p.G1154fs |
| TM31_CENTRAL_NERVOUS_SYSTEM | 32164101 | 32164198 | 32164118 | 32164118 | Missense_Mutation | C | G | p.D1761H |
| HS822T_FIBROBLAST | 32164101 | 32164198 | 32164177 | 32164177 | Missense_Mutation | G | A | p.A1741V |
| HEC265_ENDOMETRIUM | 32164101 | 32164198 | 32164183 | 32164183 | Missense_Mutation | T | C | p.H1739R |
| NOMO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 32166703 | 32166922 | 32166713 | 32166713 | Missense_Mutation | T | G | p.I1509L |
| HEC108_ENDOMETRIUM | 32166703 | 32166922 | 32166763 | 32166763 | Missense_Mutation | C | T | p.R1492Q |
| CW2_LARGE_INTESTINE | 32166703 | 32166922 | 32166763 | 32166763 | Missense_Mutation | C | T | p.R1492Q |
| LS411N_LARGE_INTESTINE | 32166703 | 32166922 | 32166839 | 32166839 | Missense_Mutation | C | T | p.V1467I |
| SNU1040_LARGE_INTESTINE | 32166703 | 32166922 | 32166890 | 32166890 | Missense_Mutation | G | T | p.L1450M |
| NCIH28_PLEURA | 32168894 | 32169277 | 32168903 | 32168903 | Missense_Mutation | A | T | p.L1377H |
| MM127_SKIN | 32168894 | 32169277 | 32168952 | 32168952 | Missense_Mutation | C | T | p.E1361K |
| MM127_SKIN | 32168894 | 32169277 | 32168975 | 32168975 | Missense_Mutation | C | T | p.G1353E |
| TYKNU_OVARY | 32168894 | 32169277 | 32168994 | 32168994 | Missense_Mutation | C | T | p.A1347T |
| SW948_LARGE_INTESTINE | 32168894 | 32169277 | 32169019 | 32169019 | Missense_Mutation | C | G | p.M1338I |
| MM415_SKIN | 32168894 | 32169277 | 32169146 | 32169146 | Missense_Mutation | G | A | p.S1296F |
| NCIH847_LUNG | 32168894 | 32169277 | 32169232 | 32169232 | Missense_Mutation | G | C | p.H1267Q |
| HCC2998_LARGE_INTESTINE | 32169853 | 32170376 | 32169893 | 32169893 | Missense_Mutation | G | T | p.L1239M |
| TUHR10TKB_KIDNEY | 32169853 | 32170376 | 32169919 | 32169919 | Missense_Mutation | T | A | p.H1230L |
| NCIH69_LUNG | 32169853 | 32170376 | 32169961 | 32169961 | Missense_Mutation | G | A | p.S1216F |
| PCI4B_UPPER_AERODIGESTIVE_TRACT | 32169853 | 32170376 | 32170073 | 32170073 | Missense_Mutation | C | G | p.E1179Q |
| 769P_KIDNEY | 32169853 | 32170376 | 32170103 | 32170103 | Missense_Mutation | G | A | p.R1169W |
| SNU1040_LARGE_INTESTINE | 32169853 | 32170376 | 32170103 | 32170103 | Missense_Mutation | G | A | p.R1169W |
| HCC2998_LARGE_INTESTINE | 32169853 | 32170376 | 32170298 | 32170298 | Missense_Mutation | G | A | p.P1104S |
| HEC151_ENDOMETRIUM | 32169853 | 32170376 | 32170348 | 32170348 | Missense_Mutation | C | A | p.R1087M |
| LS411N_LARGE_INTESTINE | 32180601 | 32180688 | 32180615 | 32180615 | Missense_Mutation | C | T | p.G838R |
| HEC108_ENDOMETRIUM | 32180601 | 32180688 | 32180626 | 32180626 | Missense_Mutation | G | A | p.T834I |
| HCC1171_LUNG | 32180601 | 32180688 | 32180629 | 32180629 | Missense_Mutation | G | A | p.P833L |
| SNU175_LARGE_INTESTINE | 32180601 | 32180688 | 32180636 | 32180636 | Missense_Mutation | G | T | p.L831I |
| NCIH2087_LUNG | 32184722 | 32184844 | 32184764 | 32184764 | Missense_Mutation | G | T | p.L607I |
| HEC251_ENDOMETRIUM | 32188182 | 32188418 | 32188279 | 32188279 | Missense_Mutation | C | A | p.E354D |
| SKUT1_SOFT_TISSUE | 32188182 | 32188418 | 32188286 | 32188286 | Missense_Mutation | C | T | p.C352Y |
| SNU175_LARGE_INTESTINE | 32188182 | 32188418 | 32188313 | 32188313 | Missense_Mutation | C | T | p.C343Y |
| ESS1_ENDOMETRIUM | 32188182 | 32188418 | 32188337 | 32188337 | Missense_Mutation | G | T | p.S335Y |
| CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 32188182 | 32188418 | 32188352 | 32188352 | Missense_Mutation | C | T | p.G330D |
| NCIH513_PLEURA | 32188755 | 32189102 | 32188757 | 32188757 | Missense_Mutation | G | T | p.P266Q |
| NCIH1836_LUNG | 32188755 | 32189102 | 32188788 | 32188788 | Missense_Mutation | C | A | p.D256Y |
| HCC1569_BREAST | 32188755 | 32189102 | 32188791 | 32188791 | Missense_Mutation | T | C | p.K255E |
| PECAPJ41CLONED2_UPPER_AERODIGESTIVE_TRACT | 32188755 | 32189102 | 32188794 | 32188794 | Missense_Mutation | C | G | p.E254Q |
| NCIH630_LARGE_INTESTINE | 32188755 | 32189102 | 32188831 | 32188831 | Missense_Mutation | C | A | p.R241S |
| HEC151_ENDOMETRIUM | 32188755 | 32189102 | 32188833 | 32188833 | Missense_Mutation | T | C | p.R241G |
| MDST8_LARGE_INTESTINE | 32188755 | 32189102 | 32188836 | 32188836 | Missense_Mutation | G | A | p.P240S |
| SISO_CERVIX | 32188755 | 32189102 | 32188898 | 32188898 | Missense_Mutation | T | G | p.Q219P |
| GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 32188755 | 32189102 | 32188898 | 32188898 | Missense_Mutation | T | G | p.Q219P |
| SW684_SOFT_TISSUE | 32188755 | 32189102 | 32188907 | 32188908 | Missense_Mutation | CC | GT | p.G216T |
| NCIH1155_LUNG | 32188755 | 32189102 | 32189070 | 32189070 | Missense_Mutation | C | T | p.A162T |
| SKMEL2_SKIN | 32169853 | 32170376 | 32170136 | 32170136 | Nonsense_Mutation | G | A | p.R1158* |
| HEC251_ENDOMETRIUM | 32184722 | 32184844 | 32184804 | 32184804 | Nonsense_Mutation | G | T | p.C593* |
| PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 32184722 | 32184844 | 32184824 | 32184824 | Nonsense_Mutation | G | A | p.Q587* |
| SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 32169853 | 32170376 | 32169853 | 32169853 | Splice_Site | G | A | p.T1252I |
| HCC2998_LARGE_INTESTINE | 32169853 | 32170376 | 32169853 | 32169853 | Splice_Site | G | A | p.T1252I |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for NOTCH4 |
| 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 NOTCH4 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for NOTCH4 |
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RelatedDrugs for NOTCH4 |
| 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 NOTCH4 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| NOTCH4 | C0005586 | Bipolar Disorder | 4 | PSYGENET |
| NOTCH4 | C0036341 | Schizophrenia | 4 | PSYGENET |
| NOTCH4 | C1458155 | Mammary Neoplasms | 2 | CTD_human |
| NOTCH4 | C0887833 | Carcinoma, Pancreatic Ductal | 1 | CTD_human |
| NOTCH4 | C3544321 | Treatment-resistant schizophrenia | 1 | PSYGENET |
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