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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 CCDC90B

check button Gene summary
Gene informationGene symbol

CCDC90B

Gene ID

60492

Gene namecoiled-coil domain containing 90B
SynonymsMDS011|MDS025
Cytomap

11q14.1

Type of geneprotein-coding
Descriptioncoiled-coil domain-containing protein 90B, mitochondrial
Modification date20180523
UniProtAcc

Q9GZT6

ContextPubMed: CCDC90B [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 CCDC90B 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 CCDC90B

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 CCDC90B

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_763241182972970:82973008:82976906:82977021:82984689:8298474382976906:82977021ENSG00000137500.5ENST00000529073.1,ENST00000455220.2,ENST00000525503.1,ENST00000529689.1,ENST00000529611.1,ENST00000529745.1,ENST00000529856.1,ENST00000529312.1,ENST00000260054.4
exon_skip_763261182972970:82973008:82984689:82984743:82984835:8298490782984689:82984743ENSG00000137500.5ENST00000527495.1
exon_skip_763301182976957:82977021:82977908:82978080:82984689:8298474382977908:82978080ENSG00000137500.5ENST00000533761.1
exon_skip_763321182976957:82977021:82984689:82984743:82984835:8298490782984689:82984743ENSG00000137500.5ENST00000528149.1,ENST00000455220.2,ENST00000525503.1,ENST00000529689.1,ENST00000529611.1,ENST00000527025.1,ENST00000529745.1,ENST00000529856.1,ENST00000534753.1,ENST00000529312.1,ENST00000260054.4
exon_skip_763341182984719:82984743:82984835:82985035:82985681:8298578382984835:82985035ENSG00000137500.5ENST00000260054.4
exon_skip_763351182984835:82984907:82984993:82985035:82985681:8298578382984993:82985035ENSG00000137500.5ENST00000528149.1,ENST00000525916.1,ENST00000455220.2,ENST00000525503.1,ENST00000529689.1,ENST00000529611.1,ENST00000527025.1,ENST00000529745.1,ENST00000527495.1,ENST00000529856.1,ENST00000534753.1,ENST00000529312.1
exon_skip_763361182984993:82985035:82985681:82985783:82989768:8298987282985681:82985783ENSG00000137500.5ENST00000529073.1,ENST00000455220.2,ENST00000525503.1,ENST00000529689.1,ENST00000529611.1,ENST00000527025.1,ENST00000527495.1,ENST00000260054.4
exon_skip_763371182984993:82985035:82985681:82985783:82991183:8299130382985681:82985783ENSG00000137500.5ENST00000528149.1,ENST00000529745.1,ENST00000529312.1
exon_skip_763381182984993:82985035:82985681:82985806:82989768:8298987282985681:82985806ENSG00000137500.5ENST00000534753.1
exon_skip_763441182985682:82985783:82989768:82989872:82991183:8299130382989768:82989872ENSG00000137500.5ENST00000529073.1,ENST00000455220.2,ENST00000525503.1,ENST00000529689.1,ENST00000529611.1,ENST00000527025.1,ENST00000526631.1,ENST00000260054.4
exon_skip_763461182985681:82985783:82991183:82991303:82996169:8299625482991183:82991303ENSG00000137500.5ENST00000529312.1
exon_skip_763471182985682:82985783:82991183:82991303:82996595:8299701182991183:82991303ENSG00000137500.5ENST00000528149.1
exon_skip_763491182985681:82985783:82991183:82991303:82996915:8299700782991183:82991303ENSG00000137500.5ENST00000530253.1,ENST00000529745.1,ENST00000533761.1
exon_skip_763531182985681:82985806:82989768:82989872:82991183:8299130382989768:82989872ENSG00000137500.5ENST00000534753.1
exon_skip_763541182989768:82989872:82991183:82991303:82996915:8299700782991183:82991303ENSG00000137500.5ENST00000529073.1,ENST00000534753.1,ENST00000526631.1,ENST00000260054.4
exon_skip_763561182991183:82991303:82996169:82996254:82996915:8299700782996169:82996254ENSG00000137500.5ENST00000527025.1,ENST00000529312.1

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

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Exon skipping events with PSIs in GTEx for CCDC90B

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_763241182972970:82973008:82976906:82977021:82984689:8298474382976906:82977021ENSG00000137500.5ENST00000529689.1,ENST00000455220.2,ENST00000525503.1,ENST00000260054.4,ENST00000529611.1,ENST00000529745.1,ENST00000529856.1,ENST00000529312.1,ENST00000529073.1
exon_skip_763261182972970:82973008:82984689:82984743:82984835:8298490782984689:82984743ENSG00000137500.5ENST00000527495.1
exon_skip_763301182976957:82977021:82977908:82978080:82984689:8298474382977908:82978080ENSG00000137500.5ENST00000533761.1
exon_skip_763321182976957:82977021:82984689:82984743:82984835:8298490782984689:82984743ENSG00000137500.5ENST00000529689.1,ENST00000455220.2,ENST00000525503.1,ENST00000260054.4,ENST00000529611.1,ENST00000529745.1,ENST00000529856.1,ENST00000529312.1,ENST00000534753.1,ENST00000527025.1,ENST00000528149.1
exon_skip_763341182984719:82984743:82984835:82985035:82985681:8298578382984835:82985035ENSG00000137500.5ENST00000260054.4
exon_skip_763351182984835:82984907:82984993:82985035:82985681:8298578382984993:82985035ENSG00000137500.5ENST00000529689.1,ENST00000455220.2,ENST00000525503.1,ENST00000529611.1,ENST00000527495.1,ENST00000529745.1,ENST00000529856.1,ENST00000529312.1,ENST00000534753.1,ENST00000527025.1,ENST00000528149.1,ENST00000525916.1
exon_skip_763361182984993:82985035:82985681:82985783:82989768:8298987282985681:82985783ENSG00000137500.5ENST00000529689.1,ENST00000455220.2,ENST00000525503.1,ENST00000260054.4,ENST00000529611.1,ENST00000527495.1,ENST00000529073.1,ENST00000527025.1
exon_skip_763371182984993:82985035:82985681:82985783:82991183:8299130382985681:82985783ENSG00000137500.5ENST00000529745.1,ENST00000529312.1,ENST00000528149.1
exon_skip_763381182984993:82985035:82985681:82985806:82989768:8298987282985681:82985806ENSG00000137500.5ENST00000534753.1
exon_skip_763441182985682:82985783:82989768:82989872:82991183:8299130382989768:82989872ENSG00000137500.5ENST00000529689.1,ENST00000455220.2,ENST00000525503.1,ENST00000260054.4,ENST00000529611.1,ENST00000529073.1,ENST00000527025.1,ENST00000526631.1
exon_skip_763461182985681:82985783:82991183:82991303:82996169:8299625482991183:82991303ENSG00000137500.5ENST00000529312.1
exon_skip_763471182985682:82985783:82991183:82991303:82996595:8299701182991183:82991303ENSG00000137500.5ENST00000528149.1
exon_skip_763491182985681:82985783:82991183:82991303:82996915:8299700782991183:82991303ENSG00000137500.5ENST00000529745.1,ENST00000533761.1,ENST00000530253.1
exon_skip_763531182985681:82985806:82989768:82989872:82991183:8299130382989768:82989872ENSG00000137500.5ENST00000534753.1
exon_skip_763541182989768:82989872:82991183:82991303:82996915:8299700782991183:82991303ENSG00000137500.5ENST00000260054.4,ENST00000529073.1,ENST00000534753.1,ENST00000526631.1
exon_skip_763561182991183:82991303:82996169:82996254:82996915:8299700782996169:82996254ENSG00000137500.5ENST00000529312.1,ENST00000527025.1

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 CCDC90B

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
ENST000005296898297690682977021Frame-shift
ENST000005296898298976882989872Frame-shift
ENST000005296898298468982984743In-frame
ENST000005296898298499382985035In-frame
ENST000005296898298568182985783In-frame

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
ENST000005296898297690682977021Frame-shift
ENST000005296898298976882989872Frame-shift
ENST000005296898298468982984743In-frame
ENST000005296898298499382985035In-frame
ENST000005296898298568182985783In-frame

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Infer the effects of exon skipping event on protein functional features for CCDC90B

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
ENST0000052968940312548298568182985783760861108142
ENST0000052968940312548298499382985035862903142156
ENST00000529689403125482984689829847439761029180198

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
ENST0000052968940312548298568182985783760861108142
ENST0000052968940312548298499382985035862903142156
ENST00000529689403125482984689829847439761029180198

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
Q9GZT610814243254ChainID=PRO_0000295695;Note=Coiled-coil domain-containing protein 90B%2C mitochondrial
Q9GZT6108142129164Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
Q9GZT614215643254ChainID=PRO_0000295695;Note=Coiled-coil domain-containing protein 90B%2C mitochondrial
Q9GZT6142156129164Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
Q9GZT618019843254ChainID=PRO_0000295695;Note=Coiled-coil domain-containing protein 90B%2C mitochondrial


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
Q9GZT610814243254ChainID=PRO_0000295695;Note=Coiled-coil domain-containing protein 90B%2C mitochondrial
Q9GZT6108142129164Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
Q9GZT614215643254ChainID=PRO_0000295695;Note=Coiled-coil domain-containing protein 90B%2C mitochondrial
Q9GZT6142156129164Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
Q9GZT618019843254ChainID=PRO_0000295695;Note=Coiled-coil domain-containing protein 90B%2C mitochondrial


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SNVs in the skipped exons for CCDC90B

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.
CCDC90B_HNSC_exon_skip_76334_psi_boxplot.png
boxplot
CCDC90B_HNSC_exon_skip_76335_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
STADTCGA-BR-4257-01exon_skip_76326
exon_skip_76332
82984690829847438298469182984691Frame_Shift_DelT-p.K198fs
UCECTCGA-A5-A0GW-01exon_skip_76337
exon_skip_76336
82985682829857838298571482985714Frame_Shift_DelT-p.S132fs
UCECTCGA-A5-A0GW-01exon_skip_76338
82985682829858068298571482985714Frame_Shift_DelT-p.S132fs
COADTCGA-AD-6889-01exon_skip_76326
exon_skip_76332
82984690829847438298469082984691Frame_Shift_Ins-Tp.K198fs
SKCMTCGA-EB-A5UN-06exon_skip_76346
exon_skip_76347
exon_skip_76349
exon_skip_76354
82991184829913038299120282991202Nonsense_MutationGAp.Q68*
SKCMTCGA-EB-A5UN-06exon_skip_76346
exon_skip_76347
exon_skip_76349
exon_skip_76354
82991184829913038299120282991202Nonsense_MutationGAp.Q68X
HNSCTCGA-CV-7414-01exon_skip_76334
82984836829850358298503682985036Splice_SiteCGp.K143_splice
HNSCTCGA-CV-7414-01exon_skip_76335
82984994829850358298503682985036Splice_SiteCGp.K143_splice

check button - Depth of coverage in the three exons composing exon skipping event
Depth of coverage in three exonsMutation description
CCDC90B_82984835_82984907_82984993_82985035_82985681_82985783_TCGA-CV-7414-01Sample: TCGA-CV-7414-01
Cancer type: HNSC
ESID: exon_skip_76335
Skipped exon start: 82984994
Skipped exon end: 82985035
Mutation start: 82985036
Mutation end: 82985036
Mutation type: Splice_Site
Reference seq: C
Mutation seq: G
AAchange: p.K143_splice
CCDC90B_82984835_82984907_82984993_82985035_82985681_82985783_TCGA-CV-7414-01Sample: TCGA-CV-7414-01
Cancer type: HNSC
ESID: exon_skip_76334
Skipped exon start: 82984836
Skipped exon end: 82985035
Mutation start: 82985036
Mutation end: 82985036
Mutation type: Splice_Site
Reference seq: C
Mutation seq: G
AAchange: p.K143_splice
exon_skip_76334_HNSC_TCGA-CV-7414-01.png
boxplot
exon_skip_76335_HNSC_TCGA-CV-7414-01.png
boxplot
CCDC90B_82984719_82984743_82984835_82985035_82985681_82985783_TCGA-CV-7414-01Sample: TCGA-CV-7414-01
Cancer type: HNSC
ESID: exon_skip_76335
Skipped exon start: 82984994
Skipped exon end: 82985035
Mutation start: 82985036
Mutation end: 82985036
Mutation type: Splice_Site
Reference seq: C
Mutation seq: G
AAchange: p.K143_splice
CCDC90B_82984719_82984743_82984835_82985035_82985681_82985783_TCGA-CV-7414-01Sample: TCGA-CV-7414-01
Cancer type: HNSC
ESID: exon_skip_76334
Skipped exon start: 82984836
Skipped exon end: 82985035
Mutation start: 82985036
Mutation end: 82985036
Mutation type: Splice_Site
Reference seq: C
Mutation seq: G
AAchange: p.K143_splice
exon_skip_76334_HNSC_TCGA-CV-7414-01.png
boxplot
exon_skip_76335_HNSC_TCGA-CV-7414-01.png
boxplot

check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
HEC265_ENDOMETRIUM82984836829850358298485582984858Frame_Shift_DelCTTT-p.ER173fs
BHT101_THYROID82976907829770218297691982976919Missense_MutationGAp.R233C
SUIT2_PANCREAS82976907829770218297693982976939Missense_MutationGCp.S226C
SAT_UPPER_AERODIGESTIVE_TRACT82976907829770218297693982976939Missense_MutationGCp.S226C
HEL9217_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE82984836829850358298486382984863Missense_MutationGCp.N171K
HEL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE82984836829850358298486382984863Missense_MutationGCp.N171K
HCC1359_LUNG82984836829850358298488282984882Missense_MutationTCp.D165G
PANC1005_PANCREAS82984836829850358298488582984885Missense_MutationGAp.A164V
LS180_LARGE_INTESTINE82985682829857838298576782985767Missense_MutationTGp.Q114P
LS180_LARGE_INTESTINE82985682829858068298576782985767Missense_MutationTGp.Q114P
HEC108_ENDOMETRIUM82989769829898728298977682989776Missense_MutationGAp.A106V
TC32_BONE82989769829898728298983682989836Missense_MutationGAp.A86V
NCIH1155_LUNG82989769829898728298983782989837Missense_MutationCTp.A86T
KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE82989769829898728298986182989861Missense_MutationTCp.T78A
ISHIKAWAHERAKLIO02ER_ENDOMETRIUM82991184829913038299118682991186Missense_MutationTAp.H73L
JEKO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE82991184829913038299118682991186Missense_MutationTAp.H73L
P32ISH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE82991184829913038299118682991186Missense_MutationTAp.H73L
SNU1040_LARGE_INTESTINE82991184829913038299121182991211Missense_MutationCTp.A65T
CW2_LARGE_INTESTINE82991184829913038299121982991219Missense_MutationTCp.D62G
CW2_LARGE_INTESTINE82991184829913038299123382991233Missense_MutationCAp.R57S
CW2_LARGE_INTESTINE82991184829913038299124182991241Nonsense_MutationCAp.E55*
HCC1569_BREAST82984690829847438298469082984691Splice_Site-Tp.K198fs

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CCDC90B

check button sQTL information located at the skipped exons.
Exon skip IDChromosomeThree exonsSkippped exonENSTCancer typeSNP idLocationDNA change (ref/var)P-value
exon_skip_763341182984719:82984743:82984835:82985035:82985681:8298578382984835:82985035ENST00000260054.4CESCrs543562chr11:82984985T/A1.69e-05
exon_skip_763341182984719:82984743:82984835:82985035:82985681:8298578382984835:82985035ENST00000260054.4KIRPrs543562chr11:82984985T/A3.05e-05
exon_skip_763341182984719:82984743:82984835:82985035:82985681:8298578382984835:82985035ENST00000260054.4KIRPrs543562chr11:82984985T/A3.01e-04
exon_skip_763341182984719:82984743:82984835:82985035:82985681:8298578382984835:82985035ENST00000260054.4LUSCrs543562chr11:82984985T/A5.18e-07
exon_skip_763341182984719:82984743:82984835:82985035:82985681:8298578382984835:82985035ENST00000260054.4PAADrs543562chr11:82984985T/A4.63e-04
exon_skip_763341182984719:82984743:82984835:82985035:82985681:8298578382984835:82985035ENST00000260054.4PRADrs543562chr11:82984985T/A1.07e-03
exon_skip_763341182984719:82984743:82984835:82985035:82985681:8298578382984835:82985035ENST00000260054.4THCArs543562chr11:82984985T/A4.17e-07
exon_skip_763341182984719:82984743:82984835:82985035:82985681:8298578382984835:82985035ENST00000260054.4THCArs543562chr11:82984985T/A2.65e-03

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CCDC90B


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CCDC90B


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RelatedDrugs for CCDC90B

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 CCDC90B

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