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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 HERC2

check button Gene summary
Gene informationGene symbol

HERC2

Gene ID

8924

Gene nameHECT and RLD domain containing E3 ubiquitin protein ligase 2
SynonymsD15F37S1|MRT38|SHEP1|jdf2|p528
Cytomap

15q13.1

Type of geneprotein-coding
DescriptionE3 ubiquitin-protein ligase HERC2HECT-type E3 ubiquitin transferase HERC2hect domain and RCC1-like domain-containing protein 2hect domain and RLD 2probable E3 ubiquitin-protein ligase HERC2
Modification date20180523
UniProtAcc

O95714

ContextPubMed: HERC2 [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
HERC2

GO:0006974

cellular response to DNA damage stimulus

22508508

HERC2

GO:0016567

protein ubiquitination

20304803


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Exon skipping events across known transcript of Ensembl for HERC2 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 HERC2

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 HERC2

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_1256001528359757:28359948:28360574:28360687:28361810:2836200528360574:28360687ENSG00000128731.11ENST00000261609.7,ENST00000566635.1
exon_skip_1256021528362158:28362300:28366491:28366575:28369182:2836938028366491:28366575ENSG00000128731.11ENST00000261609.7
exon_skip_1256031528375648:28375740:28377245:28377407:28377798:2837797628377245:28377407ENSG00000128731.11ENST00000261609.7
exon_skip_1256041528386884:28386992:28387383:28387539:28387972:2838809828387383:28387539ENSG00000128731.11ENST00000261609.7
exon_skip_1256061528389818:28389950:28391382:28391490:28397822:2839797628391382:28391490ENSG00000128731.11ENST00000261609.7
exon_skip_1256071528391382:28391490:28397822:28397976:28408239:2840843128397822:28397976ENSG00000128731.11ENST00000261609.7
exon_skip_1256081528397904:28397976:28408239:28408431:28412832:2841297328408239:28408431ENSG00000128731.11ENST00000261609.7
exon_skip_1256091528408239:28408431:28412832:28412973:28413552:2841373628412832:28412973ENSG00000128731.11ENST00000261609.7
exon_skip_1256101528421573:28421745:28421832:28421914:28422095:2842227328421832:28421914ENSG00000128731.11ENST00000261609.7
exon_skip_1256121528422564:28422655:28424032:28424176:28424287:2842436928424032:28424176ENSG00000128731.11ENST00000261609.7
exon_skip_1256141528436110:28436202:28436284:28436390:28437106:2843729728436284:28436390ENSG00000128731.11ENST00000261609.7,ENST00000567869.1
exon_skip_1256171528441360:28441500:28441606:28441715:28443523:2844364928441606:28441715ENSG00000128731.11ENST00000261609.7,ENST00000567869.1
exon_skip_1256211528457590:28457729:28458887:28459118:28459221:2845941828458887:28459118ENSG00000128731.11ENST00000261609.7
exon_skip_1256221528463634:28463817:28465597:28465790:28467173:2846736128465597:28465790ENSG00000128731.11ENST00000261609.7
exon_skip_1256241528467293:28467361:28473363:28473555:28474340:2847449228473363:28473555ENSG00000128731.11ENST00000261609.7,ENST00000569335.1
exon_skip_1256251528474605:28474742:28474819:28474993:28475512:2847564628474819:28474993ENSG00000128731.11ENST00000261609.7
exon_skip_1256261528478579:28478707:28478809:28478942:28479215:2847943028478809:28478942ENSG00000128731.11ENST00000261609.7
exon_skip_1256291528501234:28501463:28502206:28502407:28505922:2850611628502206:28502407ENSG00000128731.11ENST00000261609.7,ENST00000564734.1
exon_skip_1256301528525213:28525433:28538033:28538168:28544547:2854462928538033:28538168ENSG00000128731.11ENST00000261609.7,ENST00000564383.1
exon_skip_1256311528538033:28538168:28543662:28543775:28544547:2854462928543662:28543775ENSG00000128731.11ENST00000564734.1
exon_skip_1256321528538033:28538168:28544547:28544662:28566507:2856661028544547:28544662ENSG00000128731.11ENST00000261609.7

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

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Exon skipping events with PSIs in GTEx for HERC2

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_1256001528359757:28359948:28360574:28360687:28361810:2836200528360574:28360687ENSG00000128731.11ENST00000261609.7,ENST00000566635.1
exon_skip_1256021528362158:28362300:28366491:28366575:28369182:2836938028366491:28366575ENSG00000128731.11ENST00000261609.7
exon_skip_1256031528375648:28375740:28377245:28377407:28377798:2837797628377245:28377407ENSG00000128731.11ENST00000261609.7
exon_skip_1256041528386884:28386992:28387383:28387539:28387972:2838809828387383:28387539ENSG00000128731.11ENST00000261609.7
exon_skip_1256061528389818:28389950:28391382:28391490:28397822:2839797628391382:28391490ENSG00000128731.11ENST00000261609.7
exon_skip_1256071528391382:28391490:28397822:28397976:28408239:2840843128397822:28397976ENSG00000128731.11ENST00000261609.7
exon_skip_1256081528397904:28397976:28408239:28408431:28412832:2841297328408239:28408431ENSG00000128731.11ENST00000261609.7
exon_skip_1256091528408239:28408431:28412832:28412973:28413552:2841373628412832:28412973ENSG00000128731.11ENST00000261609.7
exon_skip_1256101528421573:28421745:28421832:28421914:28422095:2842227328421832:28421914ENSG00000128731.11ENST00000261609.7
exon_skip_1256121528422564:28422655:28424032:28424176:28424287:2842436928424032:28424176ENSG00000128731.11ENST00000261609.7
exon_skip_1256141528436110:28436202:28436284:28436390:28437106:2843729728436284:28436390ENSG00000128731.11ENST00000261609.7,ENST00000567869.1
exon_skip_1256171528441360:28441500:28441606:28441715:28443523:2844364928441606:28441715ENSG00000128731.11ENST00000261609.7,ENST00000567869.1
exon_skip_1256211528457590:28457729:28458887:28459118:28459221:2845941828458887:28459118ENSG00000128731.11ENST00000261609.7
exon_skip_1256221528463634:28463817:28465597:28465790:28467173:2846736128465597:28465790ENSG00000128731.11ENST00000261609.7
exon_skip_1256241528467293:28467361:28473363:28473555:28474340:2847449228473363:28473555ENSG00000128731.11ENST00000261609.7,ENST00000569335.1
exon_skip_1256251528474605:28474742:28474819:28474993:28475512:2847564628474819:28474993ENSG00000128731.11ENST00000261609.7
exon_skip_1256261528478579:28478707:28478809:28478942:28479215:2847943028478809:28478942ENSG00000128731.11ENST00000261609.7
exon_skip_1256291528501234:28501463:28502206:28502407:28505922:2850611628502206:28502407ENSG00000128731.11ENST00000261609.7,ENST00000564734.1
exon_skip_1256301528525213:28525433:28538033:28538168:28544547:2854462928538033:28538168ENSG00000128731.11ENST00000261609.7,ENST00000564383.1
exon_skip_1256311528538033:28538168:28543662:28543775:28544547:2854462928543662:28543775ENSG00000128731.11ENST00000564734.1
exon_skip_1256321528538033:28538168:28544547:28544662:28566507:2856661028544547:28544662ENSG00000128731.11ENST00000261609.7

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 HERC2

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 HERC2

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 HERC2

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.
HERC2_LIHC_exon_skip_125602_psi_boxplot.png
boxplot
HERC2_SKCM_exon_skip_125602_psi_boxplot.png
boxplot

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_125602
28366492283665752836656528366565Frame_Shift_DelA-p.F4400fs
LIHCTCGA-G3-A3CJ-01exon_skip_125603
28377246283774072837730528377305Frame_Shift_DelC-p.D4171fs
PRADTCGA-CH-5750-01exon_skip_125604
28387384283875392838749028387490Frame_Shift_DelC-p.C3865fs
LIHCTCGA-DD-A1EG-01exon_skip_125614
28436285284363902843633928436339Frame_Shift_DelT-p.M2835fs
COADTCGA-D5-6930-01exon_skip_125621
28458888284591182845906928459069Frame_Shift_DelC-p.G2202fs
LIHCTCGA-DD-A3A0-01exon_skip_125621
28458888284591182845906928459069Frame_Shift_DelC-p.G2202fs
LUADTCGA-86-8358-01exon_skip_125622
28465598284657902846578528465785Frame_Shift_DelC-p.G1886fs
STADTCGA-MX-A5UJ-01exon_skip_125626
28478810284789422847887428478874Frame_Shift_DelG-p.E1430fs
STADTCGA-MX-A5UJ-01exon_skip_125626
28478810284789422847887428478874Frame_Shift_DelG-p.P1429fs
LIHCTCGA-G3-A3CJ-01exon_skip_125629
28502207285024072850231128502311Frame_Shift_DelG-p.L806fs
LIHCTCGA-DD-A39Y-01exon_skip_125629
28502207285024072850232728502327Frame_Shift_DelA-p.F799fs
LIHCTCGA-DD-A3A0-01exon_skip_125629
28502207285024072850235428502354Frame_Shift_DelA-p.F790fs
COADTCGA-DM-A1DA-01exon_skip_125632
28544548285446622854457528544575Frame_Shift_DelG-p.Q54fs
STADTCGA-CG-4442-01exon_skip_125625
28474820284749932847484328474844Frame_Shift_Ins-Tp.M1654fs
KIRCTCGA-AK-3443-01exon_skip_125626
28478810284789422847887328478874Frame_Shift_Ins-Gp.A1430fs
UCECTCGA-BG-A0M9-01exon_skip_125626
28478810284789422847887328478874Frame_Shift_Ins-Gp.P1429fs
LIHCTCGA-BC-A112-01exon_skip_125630
28538034285381682853810928538110Frame_Shift_Ins-Tp.*83fs
UCECTCGA-AX-A0IW-01exon_skip_125603
28377246283774072837730928377309Nonsense_MutationCTp.W4169*
LUADTCGA-MP-A4TF-01exon_skip_125604
28387384283875392838746528387465Nonsense_MutationCTp.W3873*
UCECTCGA-AX-A0J0-01exon_skip_125606
28391383283914902839147028391470Nonsense_MutationCAp.E3641*
BLCATCGA-GD-A3OP-01exon_skip_125608
28408240284084312840839228408392Nonsense_MutationGAp.Q3532*
UVMTCGA-YZ-A984-01exon_skip_125617
28441607284417152844163828441638Nonsense_MutationCAp.E2697*
UVMTCGA-YZ-A984-01exon_skip_125617
28441607284417152844163828441638Nonsense_MutationCAp.E2697X
HNSCTCGA-CN-A641-01exon_skip_125621
28458888284591182845898928458989Nonsense_MutationCAp.G2229*
LUADTCGA-78-7155-01exon_skip_125622
28465598284657902846573928465739Nonsense_MutationCAp.G1902*
SKCMTCGA-FS-A1ZD-06exon_skip_125602
28366492283665752836657628366576Splice_SiteCT.

check button - Depth of coverage in the three exons composing exon skipping event
Depth of coverage in three exonsMutation description
HERC2_28362158_28362300_28366491_28366575_28369182_28369380_TCGA-FS-A1ZD-06Sample: TCGA-FS-A1ZD-06
Cancer type: SKCM
ESID: exon_skip_125602
Skipped exon start: 28366492
Skipped exon end: 28366575
Mutation start: 28366576
Mutation end: 28366576
Mutation type: Splice_Site
Reference seq: C
Mutation seq: T
AAchange: .
exon_skip_125602_SKCM_TCGA-FS-A1ZD-06.png
boxplot

check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
BICR18_UPPER_AERODIGESTIVE_TRACT28397823283979762839786028397861Frame_Shift_DelGG-p.T3621fs
LIM1215_LARGE_INTESTINE28458888284591182845906928459069Frame_Shift_DelC-p.G2202fs
COV644_OVARY28474820284749932847484228474843Frame_Shift_Ins-Tp.M1654fs
HEC59_ENDOMETRIUM28360575283606872836058828360588Missense_MutationGAp.A4570V
KG1C_CENTRAL_NERVOUS_SYSTEM28360575283606872836058928360589Missense_MutationCTp.A4570T
KYSE220_OESOPHAGUS28366492283665752836649828366499Missense_MutationGCTTp.R4422Q
TC106_BONE28366492283665752836653628366536Missense_MutationGAp.R4410C
RVH421_SKIN28387384283875392838742128387421Missense_MutationTCp.D3888G
SISO_CERVIX28397823283979762839792828397928Missense_MutationCTp.A3599T
GI1_CENTRAL_NERVOUS_SYSTEM28408240284084312840824428408244Missense_MutationGCp.P3581R
DOV13_OVARY28408240284084312840826828408268Missense_MutationACp.L3573R
HS294T_SKIN28408240284084312840826828408268Missense_MutationACp.L3573R
PCI38_UPPER_AERODIGESTIVE_TRACT28408240284084312840830128408301Missense_MutationCAp.G3562V
MOLT16_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE28408240284084312840834628408346Missense_MutationCTp.R3547H
NCIH661_LUNG28408240284084312840839628408396Missense_MutationCAp.E3530D
NCIH2126_LUNG28412833284129732841291528412915Missense_MutationGAp.A3491V
DU145_PROSTATE28412833284129732841291628412916Missense_MutationCTp.A3491T
SCLC22H_LUNG28424033284241762842406228424062Missense_MutationTCp.Y3045C
SCLC21H_LUNG28424033284241762842406228424062Missense_MutationTCp.Y3045C
COLO678_LARGE_INTESTINE28424033284241762842414428424144Missense_MutationCTp.E3018K
NCIH2052_PLEURA28424033284241762842414428424144Missense_MutationCTp.E3018K
CW2_LARGE_INTESTINE28436285284363902843633528436335Missense_MutationACp.I2836S
HCC2998_LARGE_INTESTINE28436285284363902843638128436381Missense_MutationGAp.R2821C
MG63_BONE28436285284363902843638128436381Missense_MutationGAp.R2821C
SW954_VULVA28441607284417152844166528441665Missense_MutationGAp.H2688Y
CORL303_LUNG28441607284417152844168928441689Missense_MutationTCp.I2680V
HCC1569_BREAST28458888284591182845891328458913Missense_MutationAGp.V2254A
MCC13_SKIN28458888284591182845892528458925Missense_MutationCTp.R2250Q
BT16_SOFT_TISSUE28458888284591182845892628458926Missense_MutationGAp.R2250W
REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE28458888284591182845899828458998Missense_MutationCTp.D2226N
MDAMB435S_SKIN28465598284657902846561628465616Missense_MutationCAp.D1943Y
WM35_SKIN28465598284657902846570028465700Missense_MutationAGp.S1915P
NCIH250_LUNG28465598284657902846573328465733Missense_MutationTCp.I1904V
SW48_LARGE_INTESTINE28465598284657902846575028465750Missense_MutationATp.L1898Q
HRT18_LARGE_INTESTINE28473364284735552847341828473418Missense_MutationGTp.L1804I
JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE28473364284735552847348628473486Missense_MutationGAp.P1781L
SNU387_LIVER28473364284735552847351328473513Missense_MutationGAp.P1772L
KYSE150_OESOPHAGUS28473364284735552847354728473547Missense_MutationGAp.P1761S
NCIH513_PLEURA28474820284749932847482428474824Missense_MutationTCp.K1660R
NCIH146_LUNG28474820284749932847497128474971Missense_MutationCTp.S1611N
DIPG007_CENTRAL_NERVOUS_SYSTEM28478810284789422847881628478816Missense_MutationCGp.D1449H
CAS1_CENTRAL_NERVOUS_SYSTEM28478810284789422847886128478861Missense_MutationCTp.E1434K
HCC2450_LUNG28478810284789422847886428478864Missense_MutationCAp.V1433L
HEC1A_ENDOMETRIUM28478810284789422847886428478864Missense_MutationCTp.V1433M
HEC1_ENDOMETRIUM28478810284789422847886428478864Missense_MutationCTp.V1433M
HEC1B_ENDOMETRIUM28478810284789422847886428478864Missense_MutationCTp.V1433M
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE28478810284789422847891828478918Missense_MutationAGp.Y1415H
GP2D_LARGE_INTESTINE28478810284789422847892728478927Missense_MutationTCp.I1412V
SNU1040_LARGE_INTESTINE28502207285024072850223328502233Missense_MutationCTp.A831T
CAL29_URINARY_TRACT28502207285024072850223628502236Missense_MutationCTp.V830M
NCIH1770_LUNG28502207285024072850230428502304Missense_MutationCTp.R807Q
NCIH2106_LUNG28502207285024072850230428502304Missense_MutationCTp.R807Q
CL34_LARGE_INTESTINE28502207285024072850230528502305Missense_MutationGAp.R807W
HS934T_FIBROBLAST28538034285381682853815628538156Missense_MutationTAp.E67V
HCC2998_LARGE_INTESTINE28544548285446622854455228544552Missense_MutationTAp.R61S
PECAPJ41CLONED2_UPPER_AERODIGESTIVE_TRACT28544548285446622854456928544569Missense_MutationCTp.G56R
WSUNHL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE28544548285446622854459528544595Missense_MutationTCp.Y47C
SNU81_LARGE_INTESTINE28544548285446622854460528544605Missense_MutationCTp.E44K
C2BBE1_LARGE_INTESTINE28544548285446622854461928544619Missense_MutationAGp.M39T
CACO2_LARGE_INTESTINE28544548285446622854461928544619Missense_MutationAGp.M39T
KARPAS1106P_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE28458888284591182845908828459088Nonsense_MutationCAp.E2196*
MZ7MEL_SKIN28544548285446622854457528544575Nonsense_MutationGAp.Q54*
639V_URINARY_TRACT28360575283606872836057528360575Splice_SiteCTp.E4574E
OSC19_UPPER_AERODIGESTIVE_TRACT28465598284657902846579028465790Splice_SiteCGp.D1885H

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for HERC2

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 HERC2


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for HERC2


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RelatedDrugs for HERC2

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 HERC2

check button Diseases associated with this gene.
(DisGeNet 4.0)
GeneDisease IDDisease name# pubmedsSource
HERC2C0009324Ulcerative Colitis1CTD_human
HERC2C0036341Schizophrenia1PSYGENET
HERC2C0264423Asthma, Occupational1CTD_human
HERC2C3809753MENTAL RETARDATION, AUTOSOMAL RECESSIVE 381ORPHANET;UNIPROT