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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 UNC79 |
Gene summary |
| Gene information | Gene symbol | UNC79 | Gene ID | 57578 |
| Gene name | unc-79 homolog, NALCN channel complex subunit | |
| Synonyms | KIAA1409 | |
| Cytomap | 14q32.12 | |
| Type of gene | protein-coding | |
| Description | protein unc-79 homologunc-79 homolog | |
| Modification date | 20180519 | |
| UniProtAcc | Q9P2D8 | |
| Context | PubMed: UNC79 [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 UNC79 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 UNC79 |
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 UNC79 |
Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_109469 | 14 | 93995631:93995672:93998895:93998924:94004334:94004564 | 93998895:93998924 | ENSG00000133958.9 | ENST00000256339.4,ENST00000393151.2,ENST00000553484.1,ENST00000555664.1 |
| exon_skip_109473 | 14 | 94041403:94041544:94044187:94044409:94046494:94046722 | 94044187:94044409 | ENSG00000133958.9 | ENST00000256339.4,ENST00000393151.2,ENST00000553484.1,ENST00000555664.1 |
| exon_skip_109474 | 14 | 94063704:94063886:94066914:94067116:94069584:94069764 | 94066914:94067116 | ENSG00000133958.9 | ENST00000256339.4,ENST00000393151.2,ENST00000553484.1,ENST00000555664.1 |
| exon_skip_109475 | 14 | 94069584:94069764:94071241:94071307:94079142:94079429 | 94071241:94071307 | ENSG00000133958.9 | ENST00000553484.1 |
| exon_skip_109476 | 14 | 94079142:94079429:94083467:94083650:94084537:94084700 | 94083467:94083650 | ENSG00000133958.9 | ENST00000256339.4,ENST00000393151.2,ENST00000553484.1,ENST00000555664.1 |
| exon_skip_109483 | 14 | 94097146:94097254:94100866:94100983:94103561:94103645 | 94100866:94100983 | ENSG00000133958.9 | ENST00000256339.4,ENST00000393151.2,ENST00000553484.1 |
| exon_skip_109486 | 14 | 94097146:94097254:94103561:94103645:94107490:94107593 | 94103561:94103645 | ENSG00000133958.9 | ENST00000555664.1 |
| exon_skip_109488 | 14 | 94100866:94100983:94103561:94103645:94107490:94107593 | 94103561:94103645 | ENSG00000133958.9 | ENST00000256339.4,ENST00000393151.2,ENST00000553484.1 |
| exon_skip_109490 | 14 | 94155010:94155186:94156462:94156649:94158094:94158292 | 94156462:94156649 | ENSG00000133958.9 | ENST00000256339.4,ENST00000393151.2,ENST00000553484.1,ENST00000555664.1 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for UNC79 |
Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_109469 | 14 | 93995631:93995672:93998895:93998924:94004334:94004564 | 93998895:93998924 | ENSG00000133958.9 | ENST00000256339.4,ENST00000555664.1,ENST00000553484.1,ENST00000393151.2 |
| exon_skip_109473 | 14 | 94041403:94041544:94044187:94044409:94046494:94046722 | 94044187:94044409 | ENSG00000133958.9 | ENST00000256339.4,ENST00000555664.1,ENST00000553484.1,ENST00000393151.2 |
| exon_skip_109474 | 14 | 94063704:94063886:94066914:94067116:94069584:94069764 | 94066914:94067116 | ENSG00000133958.9 | ENST00000256339.4,ENST00000555664.1,ENST00000553484.1,ENST00000393151.2 |
| exon_skip_109475 | 14 | 94069584:94069764:94071241:94071307:94079142:94079429 | 94071241:94071307 | ENSG00000133958.9 | ENST00000553484.1 |
| exon_skip_109476 | 14 | 94079142:94079429:94083467:94083650:94084537:94084700 | 94083467:94083650 | ENSG00000133958.9 | ENST00000256339.4,ENST00000555664.1,ENST00000553484.1,ENST00000393151.2 |
| exon_skip_109483 | 14 | 94097146:94097254:94100866:94100983:94103561:94103645 | 94100866:94100983 | ENSG00000133958.9 | ENST00000256339.4,ENST00000553484.1,ENST00000393151.2 |
| exon_skip_109486 | 14 | 94097146:94097254:94103561:94103645:94107490:94107593 | 94103561:94103645 | ENSG00000133958.9 | ENST00000555664.1 |
| exon_skip_109488 | 14 | 94100866:94100983:94103561:94103645:94107490:94107593 | 94103561:94103645 | ENSG00000133958.9 | ENST00000256339.4,ENST00000553484.1,ENST00000393151.2 |
| exon_skip_109490 | 14 | 94155010:94155186:94156462:94156649:94158094:94158292 | 94156462:94156649 | ENSG00000133958.9 | ENST00000256339.4,ENST00000555664.1,ENST00000553484.1,ENST00000393151.2 |
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 UNC79 |
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 UNC79 |
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 UNC79 |
- 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-A1EG-01 | exon_skip_109469 | 93998896 | 93998924 | 93998919 | 93998919 | Frame_Shift_Del | A | - | p.K374fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_109469 | 93998896 | 93998924 | 93998919 | 93998919 | Frame_Shift_Del | A | - | p.K374fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_109474 | 94066915 | 94067116 | 94067106 | 94067106 | Frame_Shift_Del | T | - | p.P1188fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_109483 | 94100867 | 94100983 | 94100884 | 94100884 | Frame_Shift_Del | A | - | p.K1934fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_109483 | 94100867 | 94100983 | 94100954 | 94100954 | Frame_Shift_Del | C | - | p.A1957fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_109483 | 94100867 | 94100983 | 94100954 | 94100954 | Frame_Shift_Del | C | - | p.A1758fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_109483 | 94100867 | 94100983 | 94100954 | 94100954 | Frame_Shift_Del | C | - | p.A1957fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_109490 | 94156463 | 94156649 | 94156547 | 94156547 | Frame_Shift_Del | C | - | p.C2451fs |
| COAD | TCGA-AZ-6600-01 | exon_skip_109483 | 94100867 | 94100983 | 94100938 | 94100938 | Nonsense_Mutation | G | T | p.E1753X |
| HNSC | TCGA-F7-8489-01 | exon_skip_109490 | 94156463 | 94156649 | 94156479 | 94156479 | Nonsense_Mutation | G | T | p.E2429* |
| UCEC | TCGA-B5-A11E-01 | exon_skip_109490 | 94156463 | 94156649 | 94156462 | 94156462 | Splice_Site | G | A | e43-1 |
- 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 |
| HEC108_ENDOMETRIUM | 94044188 | 94044409 | 94044230 | 94044230 | Missense_Mutation | A | G | p.M752V |
| HCC515_LUNG | 94044188 | 94044409 | 94044239 | 94044239 | Missense_Mutation | C | T | p.P755S |
| HGC27_STOMACH | 94044188 | 94044409 | 94044245 | 94044245 | Missense_Mutation | C | A | p.H757N |
| MEWO_SKIN | 94044188 | 94044409 | 94044245 | 94044245 | Missense_Mutation | C | T | p.H757Y |
| MS751_CERVIX | 94044188 | 94044409 | 94044264 | 94044264 | Missense_Mutation | C | T | p.P763L |
| RH36_SOFT_TISSUE | 94044188 | 94044409 | 94044269 | 94044269 | Missense_Mutation | C | T | p.R765W |
| NCIH1755_LUNG | 94044188 | 94044409 | 94044269 | 94044269 | Missense_Mutation | C | T | p.R765W |
| EBC1_LUNG | 94044188 | 94044409 | 94044282 | 94044282 | Missense_Mutation | G | A | p.R769H |
| SKMEL2_SKIN | 94044188 | 94044409 | 94044346 | 94044346 | Missense_Mutation | T | G | p.D790E |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 94044188 | 94044409 | 94044361 | 94044361 | Missense_Mutation | A | C | p.E795D |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 94044188 | 94044409 | 94044361 | 94044361 | Missense_Mutation | A | C | p.E795D |
| VMRCLCD_LUNG | 94044188 | 94044409 | 94044375 | 94044375 | Missense_Mutation | G | T | p.C800F |
| NCIH322_LUNG | 94044188 | 94044409 | 94044375 | 94044375 | Missense_Mutation | G | A | p.C800Y |
| SW684_SOFT_TISSUE | 94066915 | 94067116 | 94067017 | 94067017 | Missense_Mutation | C | T | p.P1159S |
| LNZTA3WT4_CENTRAL_NERVOUS_SYSTEM | 94066915 | 94067116 | 94067023 | 94067023 | Missense_Mutation | C | G | p.L1161V |
| SNU1040_LARGE_INTESTINE | 94066915 | 94067116 | 94067095 | 94067095 | Missense_Mutation | A | G | p.K1185E |
| SCLC22H_LUNG | 94066915 | 94067116 | 94067113 | 94067113 | Missense_Mutation | A | G | p.T1191A |
| SCLC21H_LUNG | 94066915 | 94067116 | 94067113 | 94067113 | Missense_Mutation | A | G | p.T1191A |
| MM370_SKIN | 94083468 | 94083650 | 94083473 | 94083473 | Missense_Mutation | G | A | p.M1349I |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 94083468 | 94083650 | 94083512 | 94083512 | Missense_Mutation | A | C | p.L1362F |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 94083468 | 94083650 | 94083512 | 94083512 | Missense_Mutation | A | C | p.L1362F |
| NCIH727_LUNG | 94083468 | 94083650 | 94083590 | 94083590 | Missense_Mutation | G | T | p.W1388C |
| KARPAS384_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 94083468 | 94083650 | 94083601 | 94083601 | Missense_Mutation | C | T | p.P1392L |
| OVMIU_OVARY | 94083468 | 94083650 | 94083619 | 94083619 | Missense_Mutation | G | T | p.W1398L |
| KMH2_THYROID | 94100867 | 94100983 | 94100891 | 94100891 | Missense_Mutation | G | A | p.G1914E |
| NCIH510_LUNG | 94100867 | 94100983 | 94100894 | 94100894 | Missense_Mutation | C | A | p.S1915Y |
| MM127_SKIN | 94100867 | 94100983 | 94100900 | 94100900 | Missense_Mutation | G | A | p.G1917E |
| CP50MELB_SKIN | 94100867 | 94100983 | 94100900 | 94100900 | Missense_Mutation | G | A | p.G1917E |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 94100867 | 94100983 | 94100972 | 94100972 | Missense_Mutation | A | G | p.N1941S |
| T84_LARGE_INTESTINE | 94103562 | 94103645 | 94103572 | 94103572 | Missense_Mutation | G | T | p.Q1948H |
| SNU175_LARGE_INTESTINE | 94103562 | 94103645 | 94103574 | 94103574 | Missense_Mutation | C | A | p.P1949H |
| MEWO_SKIN | 94103562 | 94103645 | 94103576 | 94103577 | Missense_Mutation | GG | AA | p.G1950K |
| SCH_STOMACH | 94103562 | 94103645 | 94103594 | 94103594 | Missense_Mutation | G | T | p.V1956L |
| NCIH2030_LUNG | 94103562 | 94103645 | 94103612 | 94103612 | Missense_Mutation | C | T | p.P1962S |
| MDST8_LARGE_INTESTINE | 94156463 | 94156649 | 94156489 | 94156489 | Missense_Mutation | C | T | p.S2410F |
| NCIH2342_LUNG | 94156463 | 94156649 | 94156511 | 94156511 | Missense_Mutation | G | T | p.W2417C |
| FTC238_THYROID | 94156463 | 94156649 | 94156527 | 94156527 | Missense_Mutation | C | A | p.L2423I |
| SNU81_LARGE_INTESTINE | 94156463 | 94156649 | 94156561 | 94156561 | Missense_Mutation | C | T | p.S2434F |
| CW2_LARGE_INTESTINE | 94156463 | 94156649 | 94156639 | 94156639 | Missense_Mutation | A | G | p.E2460G |
| SNU81_LARGE_INTESTINE | 94156463 | 94156649 | 94156470 | 94156470 | Nonsense_Mutation | G | T | p.E2404* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for UNC79 |
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 UNC79 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for UNC79 |
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RelatedDrugs for UNC79 |
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 UNC79 |
Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |