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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 HEATR5A

check button Gene summary
Gene informationGene symbol

HEATR5A

Gene ID

25938

Gene nameHEAT repeat containing 5A
SynonymsC14orf125
Cytomap

14q12

Type of geneprotein-coding
DescriptionHEAT repeat-containing protein 5A
Modification date20180523
UniProtAcc

Q86XA9

ContextPubMed: HEATR5A [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 HEATR5A 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 HEATR5A

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 HEATR5A

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_1124431431762072:31762818:31763096:31763310:31765114:3176526931763096:31763310ENSG00000129493.10ENST00000551414.1,ENST00000538864.2,ENST00000439727.1,ENST00000543095.2,ENST00000439348.1,ENST00000389961.3
exon_skip_1124511431763096:31763310:31765114:31765269:31771500:3177172531765114:31765269ENSG00000129493.10ENST00000439727.1,ENST00000543095.2,ENST00000389961.3
exon_skip_1124521431763096:31763310:31765114:31765269:31774110:3177438331765114:31765269ENSG00000129493.10ENST00000538864.2,ENST00000439348.1
exon_skip_1124621431765114:31765269:31771500:31771725:31774110:3177422431771500:31771725ENSG00000129493.10ENST00000439727.1,ENST00000543095.2,ENST00000389961.3
exon_skip_1124661431765114:31765269:31774110:31774383:31775937:3177608531774110:31774383ENSG00000129493.10ENST00000538864.2,ENST00000439348.1
exon_skip_1124701431771500:31771725:31774110:31774383:31775937:3177601631774110:31774383ENSG00000129493.10ENST00000439727.1,ENST00000543095.2,ENST00000389961.3
exon_skip_1124731431777098:31777226:31778139:31778388:31782173:3178239631778139:31778388ENSG00000129493.10ENST00000538864.2,ENST00000439727.1,ENST00000543095.2,ENST00000439348.1,ENST00000389961.3
exon_skip_1124751431782173:31782396:31784975:31785155:31787429:3178749431784975:31785155ENSG00000129493.10ENST00000538864.2,ENST00000439727.1,ENST00000543095.2,ENST00000439348.1,ENST00000389961.3
exon_skip_1124781431784975:31785155:31787429:31787498:31790704:3179088631787429:31787498ENSG00000129493.10ENST00000538864.2,ENST00000439727.1,ENST00000543095.2,ENST00000439348.1,ENST00000389961.3
exon_skip_1124801431787429:31787498:31790704:31790886:31792770:3179301031790704:31790886ENSG00000129493.10ENST00000538864.2,ENST00000439727.1,ENST00000543095.2,ENST00000439348.1,ENST00000389961.3
exon_skip_1124811431790704:31790886:31792770:31793010:31795368:3179554831792770:31793010ENSG00000129493.10ENST00000538864.2,ENST00000439727.1,ENST00000543095.2,ENST00000439348.1,ENST00000389961.3
exon_skip_1124821431806681:31806820:31809655:31809682:31813101:3181327131809655:31809682ENSG00000129493.10ENST00000549719.1

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

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Exon skipping events with PSIs in GTEx for HEATR5A

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_1124431431762072:31762818:31763096:31763310:31765114:3176526931763096:31763310ENSG00000129493.10ENST00000389961.3,ENST00000439348.1,ENST00000439727.1,ENST00000543095.2,ENST00000551414.1,ENST00000538864.2
exon_skip_1124511431763096:31763310:31765114:31765269:31771500:3177172531765114:31765269ENSG00000129493.10ENST00000389961.3,ENST00000439727.1,ENST00000543095.2
exon_skip_1124521431763096:31763310:31765114:31765269:31774110:3177438331765114:31765269ENSG00000129493.10ENST00000439348.1,ENST00000538864.2
exon_skip_1124621431765114:31765269:31771500:31771725:31774110:3177422431771500:31771725ENSG00000129493.10ENST00000389961.3,ENST00000439727.1,ENST00000543095.2
exon_skip_1124661431765114:31765269:31774110:31774383:31775937:3177608531774110:31774383ENSG00000129493.10ENST00000439348.1,ENST00000538864.2
exon_skip_1124701431771500:31771725:31774110:31774383:31775937:3177601631774110:31774383ENSG00000129493.10ENST00000389961.3,ENST00000439727.1,ENST00000543095.2
exon_skip_1124731431777098:31777226:31778139:31778388:31782173:3178239631778139:31778388ENSG00000129493.10ENST00000389961.3,ENST00000439348.1,ENST00000439727.1,ENST00000543095.2,ENST00000538864.2
exon_skip_1124751431782173:31782396:31784975:31785155:31787429:3178749431784975:31785155ENSG00000129493.10ENST00000389961.3,ENST00000439348.1,ENST00000439727.1,ENST00000543095.2,ENST00000538864.2
exon_skip_1124781431784975:31785155:31787429:31787498:31790704:3179088631787429:31787498ENSG00000129493.10ENST00000389961.3,ENST00000439348.1,ENST00000439727.1,ENST00000543095.2,ENST00000538864.2
exon_skip_1124801431787429:31787498:31790704:31790886:31792770:3179301031790704:31790886ENSG00000129493.10ENST00000389961.3,ENST00000439348.1,ENST00000439727.1,ENST00000543095.2,ENST00000538864.2
exon_skip_1124811431790704:31790886:31792770:31793010:31795368:3179554831792770:31793010ENSG00000129493.10ENST00000389961.3,ENST00000439348.1,ENST00000439727.1,ENST00000543095.2,ENST00000538864.2
exon_skip_1124821431806681:31806820:31809655:31809682:31813101:3181327131809655:31809682ENSG00000129493.10ENST00000549719.1

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 HEATR5A

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 HEATR5A

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 HEATR5A

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-G3-A3CJ-01exon_skip_112466
exon_skip_112470
31774111317743833177423931774239Frame_Shift_DelT-p.N1704fs
LIHCTCGA-DD-A1EG-01exon_skip_112466
exon_skip_112470
31774111317743833177430531774305Frame_Shift_DelT-p.K1682fs
STADTCGA-HU-A4H4-01exon_skip_112466
exon_skip_112470
31774111317743833177433231774332Frame_Shift_DelT-p.K1673fs
LIHCTCGA-DD-A3A0-01exon_skip_112466
exon_skip_112470
31774111317743833177434131774341Frame_Shift_DelC-p.G1670fs
LIHCTCGA-DD-A3A0-01exon_skip_112481
31792771317930103179278331792783Frame_Shift_DelT-p.R1259fs
LIHCTCGA-DD-A3A0-01exon_skip_112481
31792771317930103179281431792814Frame_Shift_DelA-p.F1248fs
STADTCGA-CG-4476-01exon_skip_112481
31792771317930103179284531792845Frame_Shift_DelT-p.N1238fs
LIHCTCGA-DD-A3A0-01exon_skip_112481
31792771317930103179291631792916Frame_Shift_DelT-p.K1214fs
LIHCTCGA-G3-A3CJ-01exon_skip_112481
31792771317930103179295431792954Frame_Shift_DelC-p.D1203fs
UCECTCGA-D1-A174-01exon_skip_112481
31792771317930103179278231792783Frame_Shift_Ins-Tp.R1259fs
CESCTCGA-EK-A2R7-01exon_skip_112466
exon_skip_112470
31774111317743833177436631774366Nonsense_MutationCAp.E1656*

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
GOS3_CENTRAL_NERVOUS_SYSTEM31774111317743833177429131774291Frame_Shift_DelC-p.A1681fs
JHH5_LIVER31774111317743833177418331774184Frame_Shift_Ins-TAATp.E1717fs
T3M10_LUNG31790705317908863179075331790754Frame_Shift_Ins-Gp.P1301fs
NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE31763097317633103176311131763111Missense_MutationGCp.A1934G
IM95_STOMACH31763097317633103176325531763255Missense_MutationGAp.A1886V
MEWO_SKIN31765115317652693176517131765171Missense_MutationGAp.L1849F
FARAGE_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE31771501317717253177163031771630Missense_MutationCTp.V1773I
PATU8902_PANCREAS31771501317717253177163231771632Missense_MutationGAp.T1772I
DG75_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE31771501317717253177167431771674Missense_MutationCTp.R1758K
SNU626_CENTRAL_NERVOUS_SYSTEM31771501317717253177168331771683Missense_MutationCAp.G1755V
AN3CA_ENDOMETRIUM31774111317743833177412531774125Missense_MutationAGp.V1736A
ROS50_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE31774111317743833177415931774159Missense_MutationCGp.A1725P
LNCAPCLONEFGC_PROSTATE31774111317743833177419331774193Missense_MutationCAp.Q1713H
201T_LUNG31774111317743833177421331774213Missense_MutationCAp.V1707L
HCC2450_LUNG31774111317743833177421531774215Missense_MutationCAp.G1706V
MFE319_ENDOMETRIUM31774111317743833177426731774267Missense_MutationTCp.I1689V
HC1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE31778140317783883177815731778157Missense_MutationCTp.R1552K
HEC59_ENDOMETRIUM31778140317783883177831031778310Missense_MutationGAp.A1501V
SUDHL6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE31778140317783883177832931778329Missense_MutationACp.W1495G
KMH2_THYROID31778140317783883177838531778385Missense_MutationCTp.G1476D
TCCPAN2_PANCREAS31784976317851553178498731784987Missense_MutationCTp.A1397T
NH12_AUTONOMIC_GANGLIA31784976317851553178498731784987Missense_MutationCTp.A1397T
SLVL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE31784976317851553178498731784987Missense_MutationCTp.A1397T
RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE31784976317851553178507631785076Missense_MutationGAp.S1367L
JHUEM3_ENDOMETRIUM31787430317874983178747731787477Missense_MutationCGp.A1325P
LS1034_LARGE_INTESTINE31790705317908863179071331790713Missense_MutationGTp.Q1315K
LS513_LARGE_INTESTINE31790705317908863179071331790713Missense_MutationGTp.Q1315K
NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE31790705317908863179071331790713Missense_MutationGTp.Q1315K
NCIH1694_LUNG31790705317908863179071331790713Missense_MutationGTp.Q1315K
EJM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE31790705317908863179072231790722Missense_MutationCTp.E1312K
MDAMB415_BREAST31790705317908863179075831790758Missense_MutationCTp.V1300I
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE31790705317908863179080931790809Missense_MutationGAp.R1283C
COLO800_SKIN31790705317908863179083631790836Missense_MutationCGp.A1274P
127399_SOFT_TISSUE31792771317930103179279031792790Missense_MutationCTp.M1250I
BICR78_UPPER_AERODIGESTIVE_TRACT31792771317930103179279031792791Missense_MutationCATTp.M1250K
COLO699_LUNG31792771317930103179279031792790Missense_MutationCTp.M1250I
GIMEN_AUTONOMIC_GANGLIA31792771317930103179279031792790Missense_MutationCTp.M1250I
HCC2429_LUNG31792771317930103179279031792791Missense_MutationCATTp.M1250K
JAR_PLACENTA31792771317930103179279031792791Missense_MutationCATTp.M1250K
MM386_SKIN31792771317930103179279031792790Missense_MutationCTp.M1250I
RH30_SOFT_TISSUE31792771317930103179279031792791Missense_MutationCATTp.M1250K
SCS214_SOFT_TISSUE31792771317930103179279031792791Missense_MutationCATTp.M1250K
SIHA_CERVIX31792771317930103179279031792791Missense_MutationCATTp.M1250K
SKMEL2_SKIN31792771317930103179279031792790Missense_MutationCTp.M1250I
SW756_CERVIX31792771317930103179279031792790Missense_MutationCTp.M1250I
SW954_VULVA31792771317930103179279031792791Missense_MutationCATTp.M1250K
L82_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE31792771317930103179279131792791Missense_MutationATp.M1250K
BICR78_UPPER_AERODIGESTIVE_TRACT31792771317930103179279531792795Missense_MutationCTp.E1249K
BT12_SOFT_TISSUE31792771317930103179279531792795Missense_MutationCTp.E1249K
JAR_PLACENTA31792771317930103179279531792795Missense_MutationCTp.E1249K
NCIH446_LUNG31792771317930103179279531792795Missense_MutationCTp.E1249K
CCLFPEDS0018T_SOFT_TISSUE31792771317930103179279531792795Missense_MutationCTp.E1249K
SCS214_SOFT_TISSUE31792771317930103179279531792795Missense_MutationCTp.E1249K
SIHA_CERVIX31792771317930103179279531792795Missense_MutationCTp.E1249K
SW756_CERVIX31792771317930103179279531792795Missense_MutationCTp.E1249K
SKMEL30_SKIN31792771317930103179279531792795Missense_MutationCTp.E1249K
BICR78_UPPER_AERODIGESTIVE_TRACT31792771317930103179279831792798Missense_MutationGTp.Q1248K
JAR_PLACENTA31792771317930103179279831792798Missense_MutationGTp.Q1248K
YAPC_PANCREAS31792771317930103179282331792823Missense_MutationACp.S1239R
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE31792771317930103179282731792827Missense_MutationTCp.N1238S
CCRFCEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE31792771317930103179285531792855Missense_MutationTCp.R1229G
OELE_OVARY31792771317930103179286131792861Missense_MutationCTp.V1227I
COLO792_SKIN31792771317930103179289731792897Missense_MutationGAp.P1215S
HEC151_ENDOMETRIUM31792771317930103179292731792927Missense_MutationGAp.R1205C
SH10TC_STOMACH31792771317930103179298031792980Missense_MutationAGp.M1187T
HCC56_LARGE_INTESTINE31792771317930103179298031792980Missense_MutationAGp.M1187T
KOSC2_UPPER_AERODIGESTIVE_TRACT31792771317930103179298031792980Missense_MutationAGp.M1187T

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for HEATR5A

check button sQTL information located at the skipped exons.
Exon skip IDChromosomeThree exonsSkippped exonENSTCancer typeSNP idLocationDNA change (ref/var)P-value
exon_skip_1124801431787429:31787498:31790704:31790886:31792770:3179301031790704:31790886ENST00000538864.2,ENST00000439727.1,ENST00000543095.2,ENST00000439348.1,ENST00000389961.3THYMrs28396248chr14:31790886T/G1.99e-06

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for HEATR5A


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for HEATR5A


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RelatedDrugs for HEATR5A

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 HEATR5A

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