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Center for Computational Systems Medicine
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Gene summary

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Gene structures and expression levels

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Exon skipping events with PSIs in TCGA

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Exon skipping events with PSIs in GTEx

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Open reading frame (ORF) annotation in the exon skipping event

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Exon skipping events in the canonical protein sequence

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SNVs in the skipped exons with depth of coverage

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Splicing Quantitative Trait Loci (sQTLs) in the skipped exons

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon

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Related drugs with this gene

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Related diseases with this gene

Gene summary for UNC79

check button Gene summary
Gene informationGene symbol

UNC79

Gene ID

57578

Gene nameunc-79 homolog, NALCN channel complex subunit
SynonymsKIAA1409
Cytomap

14q32.12

Type of geneprotein-coding
Descriptionprotein unc-79 homologunc-79 homolog
Modification date20180519
UniProtAcc

Q9P2D8

ContextPubMed: UNC79 [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract]
- Title (PMID)

check button Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez
GeneGO IDGO termPubMed ID

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Exon skipping events across known transcript of Ensembl for UNC79 from UCSC genome browser

check buttonSkipped 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.
all structure

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Gene isoform structures and expression levels for UNC79

check button Expression levels of gene isoforms across TCGA.
gencode gene structure

check button Expression levels of gene isoforms across GTEx.
gencode gene structure


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Exon skipping events with PSIs in TCGA for UNC79

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_1094691493995631:93995672:93998895:93998924:94004334:9400456493998895:93998924ENSG00000133958.9ENST00000256339.4,ENST00000393151.2,ENST00000553484.1,ENST00000555664.1
exon_skip_1094731494041403:94041544:94044187:94044409:94046494:9404672294044187:94044409ENSG00000133958.9ENST00000256339.4,ENST00000393151.2,ENST00000553484.1,ENST00000555664.1
exon_skip_1094741494063704:94063886:94066914:94067116:94069584:9406976494066914:94067116ENSG00000133958.9ENST00000256339.4,ENST00000393151.2,ENST00000553484.1,ENST00000555664.1
exon_skip_1094751494069584:94069764:94071241:94071307:94079142:9407942994071241:94071307ENSG00000133958.9ENST00000553484.1
exon_skip_1094761494079142:94079429:94083467:94083650:94084537:9408470094083467:94083650ENSG00000133958.9ENST00000256339.4,ENST00000393151.2,ENST00000553484.1,ENST00000555664.1
exon_skip_1094831494097146:94097254:94100866:94100983:94103561:9410364594100866:94100983ENSG00000133958.9ENST00000256339.4,ENST00000393151.2,ENST00000553484.1
exon_skip_1094861494097146:94097254:94103561:94103645:94107490:9410759394103561:94103645ENSG00000133958.9ENST00000555664.1
exon_skip_1094881494100866:94100983:94103561:94103645:94107490:9410759394103561:94103645ENSG00000133958.9ENST00000256339.4,ENST00000393151.2,ENST00000553484.1
exon_skip_1094901494155010:94155186:94156462:94156649:94158094:9415829294156462:94156649ENSG00000133958.9ENST00000256339.4,ENST00000393151.2,ENST00000553484.1,ENST00000555664.1

check button PSI values of skipped exons in TCGA.
psi tcga

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Exon skipping events with PSIs in GTEx for UNC79

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_1094691493995631:93995672:93998895:93998924:94004334:9400456493998895:93998924ENSG00000133958.9ENST00000256339.4,ENST00000555664.1,ENST00000553484.1,ENST00000393151.2
exon_skip_1094731494041403:94041544:94044187:94044409:94046494:9404672294044187:94044409ENSG00000133958.9ENST00000256339.4,ENST00000555664.1,ENST00000553484.1,ENST00000393151.2
exon_skip_1094741494063704:94063886:94066914:94067116:94069584:9406976494066914:94067116ENSG00000133958.9ENST00000256339.4,ENST00000555664.1,ENST00000553484.1,ENST00000393151.2
exon_skip_1094751494069584:94069764:94071241:94071307:94079142:9407942994071241:94071307ENSG00000133958.9ENST00000553484.1
exon_skip_1094761494079142:94079429:94083467:94083650:94084537:9408470094083467:94083650ENSG00000133958.9ENST00000256339.4,ENST00000555664.1,ENST00000553484.1,ENST00000393151.2
exon_skip_1094831494097146:94097254:94100866:94100983:94103561:9410364594100866:94100983ENSG00000133958.9ENST00000256339.4,ENST00000553484.1,ENST00000393151.2
exon_skip_1094861494097146:94097254:94103561:94103645:94107490:9410759394103561:94103645ENSG00000133958.9ENST00000555664.1
exon_skip_1094881494100866:94100983:94103561:94103645:94107490:9410759394103561:94103645ENSG00000133958.9ENST00000256339.4,ENST00000553484.1,ENST00000393151.2
exon_skip_1094901494155010:94155186:94156462:94156649:94158094:9415829294156462:94156649ENSG00000133958.9ENST00000256339.4,ENST00000555664.1,ENST00000553484.1,ENST00000393151.2

check button PSI values of skipped exons in GTEx.
psi gtex

* Skipped exon sequences.

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Open reading frame (ORF) annotation in the exon skipping event for UNC79

check button Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF

check button Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF

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Infer the effects of exon skipping event on protein functional features for UNC79

check button Exon skipping at the protein sequence level and followed lost functional features.
* Click on the image to enlarge it in a new window.
prot feature distribution

check button Loci of skipped exons in TCGA across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end

check button Loci of skipped exons in GTEx across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end

check button 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 featureDescription of feature


check button 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 featureDescription of feature


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SNVs in the skipped exons for UNC79

check button - Lollipop plot for presenting exon skipping associated SNVs.
* Click on the image to enlarge it in a new window.
lollipop

check button - Differential PSIs between mutated versus non-mutated samples.

check button - Non-synonymous mutations located in the skipped exons in TCGA.
Cancer typeSampleESIDSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
LIHCTCGA-DD-A1EG-01exon_skip_109469
93998896939989249399891993998919Frame_Shift_DelA-p.K374fs
LIHCTCGA-DD-A3A0-01exon_skip_109469
93998896939989249399891993998919Frame_Shift_DelA-p.K374fs
LIHCTCGA-DD-A3A0-01exon_skip_109474
94066915940671169406710694067106Frame_Shift_DelT-p.P1188fs
LIHCTCGA-G3-A3CJ-01exon_skip_109483
94100867941009839410088494100884Frame_Shift_DelA-p.K1934fs
LIHCTCGA-DD-A39Y-01exon_skip_109483
94100867941009839410095494100954Frame_Shift_DelC-p.A1957fs
LIHCTCGA-DD-A3A0-01exon_skip_109483
94100867941009839410095494100954Frame_Shift_DelC-p.A1758fs
LIHCTCGA-DD-A3A0-01exon_skip_109483
94100867941009839410095494100954Frame_Shift_DelC-p.A1957fs
LIHCTCGA-G3-A3CJ-01exon_skip_109490
94156463941566499415654794156547Frame_Shift_DelC-p.C2451fs
COADTCGA-AZ-6600-01exon_skip_109483
94100867941009839410093894100938Nonsense_MutationGTp.E1753X
HNSCTCGA-F7-8489-01exon_skip_109490
94156463941566499415647994156479Nonsense_MutationGTp.E2429*
UCECTCGA-B5-A11E-01exon_skip_109490
94156463941566499415646294156462Splice_SiteGAe43-1

check button - Depth of coverage in the three exons composing exon skipping event
Depth of coverage in three exonsMutation description

check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
HEC108_ENDOMETRIUM94044188940444099404423094044230Missense_MutationAGp.M752V
HCC515_LUNG94044188940444099404423994044239Missense_MutationCTp.P755S
HGC27_STOMACH94044188940444099404424594044245Missense_MutationCAp.H757N
MEWO_SKIN94044188940444099404424594044245Missense_MutationCTp.H757Y
MS751_CERVIX94044188940444099404426494044264Missense_MutationCTp.P763L
RH36_SOFT_TISSUE94044188940444099404426994044269Missense_MutationCTp.R765W
NCIH1755_LUNG94044188940444099404426994044269Missense_MutationCTp.R765W
EBC1_LUNG94044188940444099404428294044282Missense_MutationGAp.R769H
SKMEL2_SKIN94044188940444099404434694044346Missense_MutationTGp.D790E
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE94044188940444099404436194044361Missense_MutationACp.E795D
BICR18_UPPER_AERODIGESTIVE_TRACT94044188940444099404436194044361Missense_MutationACp.E795D
VMRCLCD_LUNG94044188940444099404437594044375Missense_MutationGTp.C800F
NCIH322_LUNG94044188940444099404437594044375Missense_MutationGAp.C800Y
SW684_SOFT_TISSUE94066915940671169406701794067017Missense_MutationCTp.P1159S
LNZTA3WT4_CENTRAL_NERVOUS_SYSTEM94066915940671169406702394067023Missense_MutationCGp.L1161V
SNU1040_LARGE_INTESTINE94066915940671169406709594067095Missense_MutationAGp.K1185E
SCLC22H_LUNG94066915940671169406711394067113Missense_MutationAGp.T1191A
SCLC21H_LUNG94066915940671169406711394067113Missense_MutationAGp.T1191A
MM370_SKIN94083468940836509408347394083473Missense_MutationGAp.M1349I
BICR18_UPPER_AERODIGESTIVE_TRACT94083468940836509408351294083512Missense_MutationACp.L1362F
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE94083468940836509408351294083512Missense_MutationACp.L1362F
NCIH727_LUNG94083468940836509408359094083590Missense_MutationGTp.W1388C
KARPAS384_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE94083468940836509408360194083601Missense_MutationCTp.P1392L
OVMIU_OVARY94083468940836509408361994083619Missense_MutationGTp.W1398L
KMH2_THYROID94100867941009839410089194100891Missense_MutationGAp.G1914E
NCIH510_LUNG94100867941009839410089494100894Missense_MutationCAp.S1915Y
MM127_SKIN94100867941009839410090094100900Missense_MutationGAp.G1917E
CP50MELB_SKIN94100867941009839410090094100900Missense_MutationGAp.G1917E
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE94100867941009839410097294100972Missense_MutationAGp.N1941S
T84_LARGE_INTESTINE94103562941036459410357294103572Missense_MutationGTp.Q1948H
SNU175_LARGE_INTESTINE94103562941036459410357494103574Missense_MutationCAp.P1949H
MEWO_SKIN94103562941036459410357694103577Missense_MutationGGAAp.G1950K
SCH_STOMACH94103562941036459410359494103594Missense_MutationGTp.V1956L
NCIH2030_LUNG94103562941036459410361294103612Missense_MutationCTp.P1962S
MDST8_LARGE_INTESTINE94156463941566499415648994156489Missense_MutationCTp.S2410F
NCIH2342_LUNG94156463941566499415651194156511Missense_MutationGTp.W2417C
FTC238_THYROID94156463941566499415652794156527Missense_MutationCAp.L2423I
SNU81_LARGE_INTESTINE94156463941566499415656194156561Missense_MutationCTp.S2434F
CW2_LARGE_INTESTINE94156463941566499415663994156639Missense_MutationAGp.E2460G
SNU81_LARGE_INTESTINE94156463941566499415647094156470Nonsense_MutationGTp.E2404*

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for UNC79

check button sQTL information located at the skipped exons.
Exon skip IDChromosomeThree exonsSkippped exonENSTCancer typeSNP idLocationDNA 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

check button Approved drugs targeting this gene.
(DrugBank Version 5.1.0 2018-04-02)
GeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for UNC79

check button Diseases associated with this gene.
(DisGeNet 4.0)
GeneDisease IDDisease name# pubmedsSource