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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 TJP3 |
 Gene summary |
| Gene information | Gene symbol | TJP3 | Gene ID | 27134 |
| Gene name | tight junction protein 3 | |
| Synonyms | ZO-3|ZO3 | |
| Cytomap | 19p13.3 | |
| Type of gene | protein-coding | |
| Description | tight junction protein ZO-3tight junction protein 3 (zona occludens 3)zona occludens protein 3zonula occludens protein 3 | |
| Modification date | 20180522 | |
| UniProtAcc | O95049 | |
| Context | PubMed: TJP3 [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 TJP3 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 TJP3 |
| 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 TJP3 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_300979 | 19 | 3708500:3708559:3728601:3728711:3730025:3730128 | 3728601:3728711 | ENSG00000105289.10 | ENST00000539908.2 |
| exon_skip_300982 | 19 | 3721734:3721908:3728421:3728478:3728601:3728711 | 3728421:3728478 | ENSG00000105289.10 | ENST00000589378.1,ENST00000382008.3,ENST00000587912.1 |
| exon_skip_300985 | 19 | 3728421:3728478:3728571:3728711:3730025:3730128 | 3728571:3728711 | ENSG00000105289.10 | ENST00000590545.1 |
| exon_skip_300986 | 19 | 3728421:3728478:3728601:3728711:3730025:3730128 | 3728601:3728711 | ENSG00000105289.10 | ENST00000589378.1,ENST00000541714.2,ENST00000382008.3,ENST00000587686.1,ENST00000262968.9,ENST00000587912.1 |
| exon_skip_300987 | 19 | 3730352:3730704:3731932:3732036:3733750:3733910 | 3731932:3732036 | ENSG00000105289.10 | ENST00000589378.1,ENST00000539908.2,ENST00000541714.2,ENST00000382008.3,ENST00000587686.1,ENST00000262968.9 |
| exon_skip_300989 | 19 | 3738552:3738661:3738894:3739132:3740549:3740761 | 3738894:3739132 | ENSG00000105289.10 | ENST00000589378.1,ENST00000539908.2,ENST00000541714.2,ENST00000382008.3,ENST00000587686.1,ENST00000262968.9 |
| exon_skip_300992 | 19 | 3738894:3739132:3740549:3740761:3743936:3744032 | 3740549:3740761 | ENSG00000105289.10 | ENST00000589378.1,ENST00000539908.2,ENST00000541714.2,ENST00000382008.3,ENST00000587686.1,ENST00000262968.9 |
| exon_skip_300993 | 19 | 3743936:3744032:3746008:3746079:3746482:3746693 | 3746008:3746079 | ENSG00000105289.10 | ENST00000589378.1,ENST00000539908.2,ENST00000541714.2,ENST00000382008.3,ENST00000587686.1,ENST00000591493.1,ENST00000262968.9 |
| exon_skip_300996 | 19 | 3746814:3746874:3747791:3748079:3750135:3750182 | 3747791:3748079 | ENSG00000105289.10 | ENST00000589378.1,ENST00000539908.2,ENST00000541714.2,ENST00000382008.3,ENST00000587686.1,ENST00000262968.9,ENST00000586032.1 |
| exon_skip_300999 | 19 | 3747791:3748079:3750135:3750182:3750579:3750682 | 3750135:3750182 | ENSG00000105289.10 | ENST00000589378.1,ENST00000539908.2,ENST00000541714.2,ENST00000382008.3,ENST00000587686.1,ENST00000262968.9,ENST00000586032.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for TJP3 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_300979 | 19 | 3708500:3708559:3728601:3728711:3730025:3730128 | 3728601:3728711 | ENSG00000105289.10 | ENST00000539908.2 |
| exon_skip_300982 | 19 | 3721734:3721908:3728421:3728478:3728601:3728711 | 3728421:3728478 | ENSG00000105289.10 | ENST00000587912.1,ENST00000589378.1,ENST00000382008.3 |
| exon_skip_300985 | 19 | 3728421:3728478:3728571:3728711:3730025:3730128 | 3728571:3728711 | ENSG00000105289.10 | ENST00000590545.1 |
| exon_skip_300986 | 19 | 3728421:3728478:3728601:3728711:3730025:3730128 | 3728601:3728711 | ENSG00000105289.10 | ENST00000541714.2,ENST00000587912.1,ENST00000589378.1,ENST00000382008.3,ENST00000587686.1,ENST00000262968.9 |
| exon_skip_300987 | 19 | 3730352:3730704:3731932:3732036:3733750:3733910 | 3731932:3732036 | ENSG00000105289.10 | ENST00000541714.2,ENST00000539908.2,ENST00000589378.1,ENST00000382008.3,ENST00000587686.1,ENST00000262968.9 |
| exon_skip_300989 | 19 | 3738552:3738661:3738894:3739132:3740549:3740761 | 3738894:3739132 | ENSG00000105289.10 | ENST00000541714.2,ENST00000539908.2,ENST00000589378.1,ENST00000382008.3,ENST00000587686.1,ENST00000262968.9 |
| exon_skip_300992 | 19 | 3738894:3739132:3740549:3740761:3743936:3744032 | 3740549:3740761 | ENSG00000105289.10 | ENST00000541714.2,ENST00000539908.2,ENST00000589378.1,ENST00000382008.3,ENST00000587686.1,ENST00000262968.9 |
| exon_skip_300993 | 19 | 3743936:3744032:3746008:3746079:3746482:3746693 | 3746008:3746079 | ENSG00000105289.10 | ENST00000541714.2,ENST00000539908.2,ENST00000589378.1,ENST00000382008.3,ENST00000587686.1,ENST00000262968.9,ENST00000591493.1 |
| exon_skip_300996 | 19 | 3746814:3746874:3747791:3748079:3750135:3750182 | 3747791:3748079 | ENSG00000105289.10 | ENST00000541714.2,ENST00000539908.2,ENST00000589378.1,ENST00000382008.3,ENST00000587686.1,ENST00000262968.9,ENST00000586032.1 |
| exon_skip_300999 | 19 | 3747791:3748079:3750135:3750182:3750579:3750682 | 3750135:3750182 | ENSG00000105289.10 | ENST00000541714.2,ENST00000539908.2,ENST00000589378.1,ENST00000382008.3,ENST00000587686.1,ENST00000262968.9,ENST00000586032.1 |
| 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 TJP3 |
| 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 |
| ENST00000541714 | 3728601 | 3728711 | Frame-shift |
| ENST00000541714 | 3731932 | 3732036 | Frame-shift |
| ENST00000541714 | 3738894 | 3739132 | Frame-shift |
| ENST00000541714 | 3740549 | 3740761 | Frame-shift |
| ENST00000541714 | 3746008 | 3746079 | Frame-shift |
| ENST00000541714 | 3750135 | 3750182 | Frame-shift |
| ENST00000541714 | 3747791 | 3748079 | 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 |
| ENST00000541714 | 3728601 | 3728711 | Frame-shift |
| ENST00000541714 | 3731932 | 3732036 | Frame-shift |
| ENST00000541714 | 3738894 | 3739132 | Frame-shift |
| ENST00000541714 | 3740549 | 3740761 | Frame-shift |
| ENST00000541714 | 3746008 | 3746079 | Frame-shift |
| ENST00000541714 | 3750135 | 3750182 | Frame-shift |
| ENST00000541714 | 3747791 | 3748079 | In-frame |
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Infer the effects of exon skipping event on protein functional features for TJP3 |
| 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 |
| ENST00000541714 | 3367 | 919 | 3747791 | 3748079 | 2785 | 3072 | 774 | 870 |
| 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 |
| ENST00000541714 | 3367 | 919 | 3747791 | 3748079 | 2785 | 3072 | 774 | 870 |
| 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 TJP3 |
| - 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. |
TJP3_COAD_exon_skip_300996_psi_boxplot.png |
TJP3_LIHC_exon_skip_300996_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-DD-A39Y-01 | exon_skip_300985 | 3728572 | 3728711 | 3728617 | 3728617 | Frame_Shift_Del | T | - | p.F22fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_300979 exon_skip_300986 | 3728602 | 3728711 | 3728617 | 3728617 | Frame_Shift_Del | T | - | p.F22fs |
| STAD | TCGA-F1-6874-01 | exon_skip_300989 | 3738895 | 3739132 | 3738930 | 3738933 | Frame_Shift_Del | TCCT | - | p.485_486del |
| STAD | TCGA-F1-6874-01 | exon_skip_300989 | 3738895 | 3739132 | 3738930 | 3738933 | Frame_Shift_Del | TCCT | - | p.D509fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_300996 | 3747792 | 3748079 | 3747947 | 3747947 | Frame_Shift_Del | G | - | p.E826fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_300999 | 3750136 | 3750182 | 3750150 | 3750150 | Frame_Shift_Del | C | - | p.H875fs |
| COAD | TCGA-AZ-6598-01 | exon_skip_300996 | 3747792 | 3748079 | 3747946 | 3747947 | Frame_Shift_Ins | - | G | p.E859fs |
| UCEC | TCGA-BS-A0TI-01 | exon_skip_300985 | 3728572 | 3728711 | 3728710 | 3728710 | Nonsense_Mutation | C | T | p.Q72* |
| UCEC | TCGA-BS-A0TI-01 | exon_skip_300985 | 3728572 | 3728711 | 3728710 | 3728710 | Nonsense_Mutation | C | T | p.Q72_splice |
| UCEC | TCGA-BS-A0TI-01 | exon_skip_300979 exon_skip_300986 | 3728602 | 3728711 | 3728710 | 3728710 | Nonsense_Mutation | C | T | p.Q72* |
| UCEC | TCGA-BS-A0TI-01 | exon_skip_300979 exon_skip_300986 | 3728602 | 3728711 | 3728710 | 3728710 | Nonsense_Mutation | C | T | p.Q72_splice |
| PRAD | TCGA-HC-A76W-01 | exon_skip_300987 | 3731933 | 3732036 | 3731956 | 3731956 | Nonsense_Mutation | C | T | p.Q213* |
| SKCM | TCGA-YD-A89C-06 | exon_skip_300989 | 3738895 | 3739132 | 3738902 | 3738902 | Nonsense_Mutation | G | A | p.W467* |
| LUSC | TCGA-39-5028-01 | exon_skip_300992 | 3740550 | 3740761 | 3740705 | 3740705 | Nonsense_Mutation | C | G | p.S629* |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-AZ-6598-01 |
| Cancer type: COAD | |
| ESID: exon_skip_300996 | |
| Skipped exon start: 3747792 | |
| Skipped exon end: 3748079 | |
| Mutation start: 3747946 | |
| Mutation end: 3747947 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: G | |
| AAchange: p.E859fs | |
exon_skip_11218_COAD_TCGA-AZ-6598-01.png | |
exon_skip_11256_COAD_TCGA-AZ-6598-01.png | |
exon_skip_11259_COAD_TCGA-AZ-6598-01.png | |
exon_skip_11263_COAD_TCGA-AZ-6598-01.png | |
exon_skip_135111_COAD_TCGA-AZ-6598-01.png | |
exon_skip_135112_COAD_TCGA-AZ-6598-01.png | |
exon_skip_135114_COAD_TCGA-AZ-6598-01.png | |
exon_skip_139080_COAD_TCGA-AZ-6598-01.png | |
exon_skip_142268_COAD_TCGA-AZ-6598-01.png | |
exon_skip_149455_COAD_TCGA-AZ-6598-01.png | |
exon_skip_300996_COAD_TCGA-AZ-6598-01.png | |
exon_skip_303809_COAD_TCGA-AZ-6598-01.png | |
exon_skip_357723_COAD_TCGA-AZ-6598-01.png | |
exon_skip_384067_COAD_TCGA-AZ-6598-01.png | |
exon_skip_384069_COAD_TCGA-AZ-6598-01.png | |
exon_skip_384070_COAD_TCGA-AZ-6598-01.png | |
exon_skip_434039_COAD_TCGA-AZ-6598-01.png | |
exon_skip_434040_COAD_TCGA-AZ-6598-01.png | |
exon_skip_434375_COAD_TCGA-AZ-6598-01.png | |
exon_skip_434763_COAD_TCGA-AZ-6598-01.png | |
exon_skip_439048_COAD_TCGA-AZ-6598-01.png | |
exon_skip_49506_COAD_TCGA-AZ-6598-01.png | |
exon_skip_54471_COAD_TCGA-AZ-6598-01.png | |
exon_skip_54472_COAD_TCGA-AZ-6598-01.png | |
exon_skip_84515_COAD_TCGA-AZ-6598-01.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 |
| HEC6_ENDOMETRIUM | 3747792 | 3748079 | 3747947 | 3747947 | Frame_Shift_Del | G | - | p.E826fs |
| HDLM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 3747792 | 3748079 | 3747946 | 3747947 | Frame_Shift_Ins | - | G | p.EG826fs |
| SNGM_ENDOMETRIUM | 3747792 | 3748079 | 3747977 | 3747978 | Frame_Shift_Ins | - | C | p.P837fs |
| KM12_LARGE_INTESTINE | 3728422 | 3728478 | 3728441 | 3728441 | Missense_Mutation | T | C | p.L4P |
| NCIH526_LUNG | 3728422 | 3728478 | 3728462 | 3728462 | Missense_Mutation | C | T | p.T11M |
| HEYA8_OVARY | 3728602 | 3728711 | 3728608 | 3728608 | Missense_Mutation | C | T | p.R19C |
| HEYA8_OVARY | 3728572 | 3728711 | 3728608 | 3728608 | Missense_Mutation | C | T | p.R19C |
| HEY_OVARY | 3728602 | 3728711 | 3728608 | 3728608 | Missense_Mutation | C | T | p.R19C |
| HEY_OVARY | 3728572 | 3728711 | 3728608 | 3728608 | Missense_Mutation | C | T | p.R19C |
| EFO27_OVARY | 3731933 | 3732036 | 3732003 | 3732003 | Missense_Mutation | C | A | p.H228Q |
| EJM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 3738895 | 3739132 | 3738916 | 3738916 | Missense_Mutation | C | T | p.S472F |
| ASPC1_PANCREAS | 3738895 | 3739132 | 3738919 | 3738919 | Missense_Mutation | G | A | p.R473H |
| KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 3738895 | 3739132 | 3738994 | 3738994 | Missense_Mutation | G | A | p.R498H |
| EBC1_LUNG | 3738895 | 3739132 | 3739038 | 3739038 | Missense_Mutation | G | A | p.G513R |
| SUDHL10_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 3738895 | 3739132 | 3739050 | 3739050 | Missense_Mutation | G | A | p.A517T |
| VMRCMELG_SKIN | 3738895 | 3739132 | 3739077 | 3739077 | Missense_Mutation | C | T | p.R526C |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 3738895 | 3739132 | 3739087 | 3739087 | Missense_Mutation | G | A | p.R529H |
| HEC6_ENDOMETRIUM | 3738895 | 3739132 | 3739111 | 3739111 | Missense_Mutation | G | A | p.G537D |
| T84_LARGE_INTESTINE | 3740550 | 3740761 | 3740630 | 3740630 | Missense_Mutation | G | A | p.R571Q |
| SNU1040_LARGE_INTESTINE | 3740550 | 3740761 | 3740651 | 3740651 | Missense_Mutation | G | A | p.R578Q |
| SNU1040_LARGE_INTESTINE | 3740550 | 3740761 | 3740659 | 3740659 | Missense_Mutation | C | T | p.R581C |
| KHYG_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 3740550 | 3740761 | 3740660 | 3740660 | Missense_Mutation | G | A | p.R581H |
| GCT_SOFT_TISSUE | 3740550 | 3740761 | 3740666 | 3740666 | Missense_Mutation | G | A | p.G583E |
| SUDHL10_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 3746009 | 3746079 | 3746028 | 3746028 | Missense_Mutation | C | A | p.D653E |
| HEC251_ENDOMETRIUM | 3746009 | 3746079 | 3746077 | 3746077 | Missense_Mutation | A | C | p.K670Q |
| HEC265_ENDOMETRIUM | 3747792 | 3748079 | 3747811 | 3747811 | Missense_Mutation | A | G | p.D781G |
| SNU1040_LARGE_INTESTINE | 3747792 | 3748079 | 3747835 | 3747835 | Missense_Mutation | G | A | p.G789D |
| HEC59_ENDOMETRIUM | 3747792 | 3748079 | 3747933 | 3747933 | Missense_Mutation | T | C | p.Y822H |
| RL952_ENDOMETRIUM | 3747792 | 3748079 | 3747963 | 3747963 | Missense_Mutation | G | T | p.D832Y |
| SW948_LARGE_INTESTINE | 3747792 | 3748079 | 3748037 | 3748037 | Missense_Mutation | C | A | p.S856R |
| SW948_LARGE_INTESTINE | 3747792 | 3748079 | 3748042 | 3748042 | Missense_Mutation | G | T | p.R858M |
| MFE319_ENDOMETRIUM | 3747792 | 3748079 | 3748073 | 3748074 | Missense_Mutation | GG | AA | p.A869T |
| MFE319_ENDOMETRIUM | 3747792 | 3748079 | 3748074 | 3748074 | Missense_Mutation | G | A | p.A869T |
| JHUEM7_ENDOMETRIUM | 3740550 | 3740761 | 3740740 | 3740740 | Nonsense_Mutation | G | T | p.E608* |
| CW2_LARGE_INTESTINE | 3750136 | 3750182 | 3750160 | 3750160 | Nonsense_Mutation | C | T | p.Q879* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for TJP3 |
| 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 TJP3 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TJP3 |
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RelatedDrugs for TJP3 |
| 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 TJP3 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| TJP3 | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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