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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 IGSF9B

check button Gene summary
Gene informationGene symbol

IGSF9B

Gene ID

22997

Gene nameimmunoglobulin superfamily member 9B
Synonyms-
Cytomap

11q25

Type of geneprotein-coding
Descriptionprotein turtle homolog B
Modification date20180523
UniProtAcc

Q9UPX0

ContextPubMed: IGSF9B [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 IGSF9B 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 IGSF9B

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 IGSF9B

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_7870011133781780:133781902:133789636:133791292:133792071:133792117133789636:133791292ENSG00000080854.10ENST00000533871.2
exon_skip_7870811133788151:133788197:133788918:133789000:133789636:133791292133788918:133789000ENSG00000080854.10ENST00000321016.8
exon_skip_7871011133796810:133796986:133799565:133799677:133800878:133801029133799565:133799677ENSG00000080854.10ENST00000321016.8,ENST00000527648.2,ENST00000533871.2
exon_skip_7871211133801965:133802108:133805511:133805657:133805947:133806089133805511:133805657ENSG00000080854.10ENST00000321016.8,ENST00000527648.2,ENST00000533871.2
exon_skip_7871611133805511:133805657:133805947:133806089:133807270:133807388133805947:133806089ENSG00000080854.10ENST00000321016.8,ENST00000527648.2,ENST00000533871.2

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

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Exon skipping events with PSIs in GTEx for IGSF9B

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_7870011133781780:133781902:133789636:133791292:133792071:133792117133789636:133791292ENSG00000080854.10ENST00000533871.2
exon_skip_7870811133788151:133788197:133788918:133789000:133789636:133791292133788918:133789000ENSG00000080854.10ENST00000321016.8
exon_skip_7871011133796810:133796986:133799565:133799677:133800878:133801029133799565:133799677ENSG00000080854.10ENST00000533871.2,ENST00000321016.8,ENST00000527648.2
exon_skip_7871211133801965:133802108:133805511:133805657:133805947:133806089133805511:133805657ENSG00000080854.10ENST00000533871.2,ENST00000321016.8,ENST00000527648.2
exon_skip_7871611133805511:133805657:133805947:133806089:133807270:133807388133805947:133806089ENSG00000080854.10ENST00000533871.2,ENST00000321016.8,ENST00000527648.2

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 IGSF9B

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
ENST000003210161337889181337890005CDS-5UTR
ENST00000321016133799565133799677Frame-shift
ENST00000321016133805511133805657Frame-shift
ENST00000321016133805947133806089Frame-shift

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
ENST000003210161337889181337890005CDS-5UTR
ENST00000321016133799565133799677Frame-shift
ENST00000321016133805511133805657Frame-shift
ENST00000321016133805947133806089Frame-shift

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Infer the effects of exon skipping event on protein functional features for IGSF9B

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 IGSF9B

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
STADTCGA-BR-4361-01exon_skip_78700
133789637133791292133790374133790374Frame_Shift_DelG-p.T1083fs
LIHCTCGA-DD-A1EG-01exon_skip_78700
133789637133791292133790646133790646Frame_Shift_DelG-p.L992fs
LIHCTCGA-G3-A3CJ-01exon_skip_78700
133789637133791292133790646133790646Frame_Shift_DelG-p.L992fs
LIHCTCGA-DD-A1EG-01exon_skip_78700
133789637133791292133790691133790691Frame_Shift_DelC-p.E977fs
LUSCTCGA-21-5786-01exon_skip_78700
133789637133791292133790758133790758Frame_Shift_DelC-p.R954fs
LIHCTCGA-DD-A3A0-01exon_skip_78710
133799566133799677133799609133799609Frame_Shift_DelC-p.E530fs
LIHCTCGA-DD-A3A0-01exon_skip_78712
133805512133805657133805582133805582Frame_Shift_DelC-p.G299fs
COADTCGA-AD-6889-01exon_skip_78700
133789637133791292133790373133790374Frame_Shift_Ins-Gp.T1083fs
TGCTTCGA-X3-A8G4-01exon_skip_78700
133789637133791292133789875133789875Nonsense_MutationGAp.R1249*
TGCTTCGA-X3-A8G4-01exon_skip_78700
133789637133791292133789875133789875Nonsense_MutationGAp.R1249X
UCECTCGA-D1-A17Q-01exon_skip_78700
133789637133791292133790490133790490Nonsense_MutationCAp.E1044*
ACCTCGA-P6-A5OG-01exon_skip_78700
133789637133791292133790535133790535Nonsense_MutationGAp.Q1029*
LUADTCGA-44-8119-01exon_skip_78700
133789637133791292133790610133790610Nonsense_MutationCAp.E1004*
UCSTCGA-ND-A4WC-01exon_skip_78700
133789637133791292133790722133790722Nonsense_MutationACp.Y966*
UCSTCGA-ND-A4WC-01exon_skip_78700
133789637133791292133790722133790722Nonsense_MutationACp.Y966X
SKCMTCGA-W3-AA1W-06exon_skip_78700
133789637133791292133790823133790823Nonsense_MutationGAp.Q933*
LIHCTCGA-ED-A4XI-01exon_skip_78710
133799566133799677133799610133799610Nonsense_MutationCTp.W529*
LIHCTCGA-ED-A4XI-01exon_skip_78710
133799566133799677133799610133799610Nonsense_MutationCTp.W529X
LUADTCGA-62-A471-01exon_skip_78716
133805948133806089133805952133805952Nonsense_MutationGAp.Q273*
KIRPTCGA-B9-4116-01exon_skip_78712
133805512133805657133805658133805658Splice_SiteCT.
KIRPTCGA-B9-4116-01exon_skip_78712
133805512133805657133805658133805658Splice_SiteCTp.N274_splice

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
SNU520_STOMACH133789637133791292133790151133790151Frame_Shift_DelC-p.A1157fs
HEC265_ENDOMETRIUM133789637133791292133790374133790374Frame_Shift_DelG-p.P1082fs
ISHIKAWAHERAKLIO02ER_ENDOMETRIUM133789637133791292133790374133790374Frame_Shift_DelG-p.P1082fs
JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE133805948133806089133806083133806083Frame_Shift_DelG-p.P229fs
LB996EBV_MATCHED_NORMAL_TISSUE133788919133789000133788978133788978Missense_MutationCAp.A1336S
LB996RCC_KIDNEY133788919133789000133788978133788978Missense_MutationCAp.A1336S
COV644_OVARY133789637133791292133789712133789712Missense_MutationTAp.Q1303L
PLCPRF5_LIVER133789637133791292133789752133789752Missense_MutationCAp.A1290S
SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE133789637133791292133789766133789766Missense_MutationGTp.P1285H
NCIH2286_LUNG133789637133791292133789801133789801Missense_MutationCAp.M1273I
EFE184_ENDOMETRIUM133789637133791292133789856133789856Missense_MutationGCp.T1255R
EW13_BONE133789637133791292133789862133789862Missense_MutationGAp.P1253L
HT144_SKIN133789637133791292133789911133789911Missense_MutationTCp.I1237V
JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE133789637133791292133789925133789925Missense_MutationGAp.A1232V
MOLP2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE133789637133791292133789947133789947Missense_MutationGAp.R1225C
COLO792_SKIN133789637133791292133789947133789947Missense_MutationGAp.R1225C
NALM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE133789637133791292133789952133789952Missense_MutationCTp.R1223Q
NCIH2810_PLEURA133789637133791292133789964133789965Missense_MutationGCTTp.A1219N
BC3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE133789637133791292133789976133789976Missense_MutationGAp.S1215F
NCIH1651_LUNG133789637133791292133789980133789980Missense_MutationCAp.G1214C
RKO_LARGE_INTESTINE133789637133791292133789989133789989Missense_MutationAGp.S1211P
PK1_PANCREAS133789637133791292133790060133790060Missense_MutationGAp.A1187V
RL952_ENDOMETRIUM133789637133791292133790150133790150Missense_MutationGTp.A1157E
CAL51_BREAST133789637133791292133790156133790156Missense_MutationGAp.P1155L
SH10TC_STOMACH133789637133791292133790198133790198Missense_MutationCAp.G1141V
LCLC97TM1_LUNG133789637133791292133790249133790249Missense_MutationCAp.R1124I
22RV1_PROSTATE133789637133791292133790345133790345Missense_MutationGAp.P1092L
UMUC6_URINARY_TRACT133789637133791292133790358133790358Missense_MutationGCp.P1088A
NB10_AUTONOMIC_GANGLIA133789637133791292133790418133790418Missense_MutationCTp.E1068K
EPLC272H_LUNG133789637133791292133790478133790478Missense_MutationCAp.G1048W
JHH4_LIVER133789637133791292133790499133790499Missense_MutationCGp.G1041R
PK45H_PANCREAS133789637133791292133790524133790525Missense_MutationTGAAp.T1032I
KU1919_URINARY_TRACT133789637133791292133790525133790525Missense_MutationGAp.T1032I
CA922_UPPER_AERODIGESTIVE_TRACT133789637133791292133790547133790547Missense_MutationGTp.L1025M
CW2_LARGE_INTESTINE133789637133791292133790549133790549Missense_MutationGAp.T1024M
KYM1_SOFT_TISSUE133789637133791292133790592133790592Missense_MutationGAp.P1010S
KHYG_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE133789637133791292133790625133790625Missense_MutationGAp.P999S
MCC142_SKIN133789637133791292133790637133790637Missense_MutationCTp.V995I
HDMYZ_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE133789637133791292133790650133790650Missense_MutationGTp.S990R
OCIAML5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE133789637133791292133790701133790701Missense_MutationGTp.S973R
WIL2NS_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE133789637133791292133790724133790724Missense_MutationAGp.Y966H
LS411N_LARGE_INTESTINE133789637133791292133790759133790759Missense_MutationCTp.R954Q
NCIH650_LUNG133789637133791292133790832133790832Missense_MutationGTp.P930T
HEC108_ENDOMETRIUM133789637133791292133790958133790958Missense_MutationCTp.E888K
SISO_CERVIX133789637133791292133790969133790969Missense_MutationTCp.D884G
GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE133789637133791292133790969133790969Missense_MutationTCp.D884G
EVSAT_BREAST133789637133791292133790973133790973Missense_MutationTCp.T883A
OVISE_OVARY133789637133791292133790982133790982Missense_MutationCTp.A880T
SNU1040_LARGE_INTESTINE133789637133791292133790982133790982Missense_MutationCTp.A880T
HCC2998_LARGE_INTESTINE133789637133791292133791078133791078Missense_MutationCTp.E848K
HCT15_LARGE_INTESTINE133789637133791292133791084133791084Missense_MutationGAp.P846S
TE4_OESOPHAGUS133789637133791292133791126133791126Missense_MutationAGp.Y832H
NCIH841_LUNG133789637133791292133791182133791182Missense_MutationCTp.R813H
HS616T_FIBROBLAST133789637133791292133791225133791225Missense_MutationCTp.D799N
DMS454_LUNG133789637133791292133791254133791254Missense_MutationGAp.T789M
NCIH650_LUNG133789637133791292133791257133791257Missense_MutationCAp.R788L
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE133799566133799677133799606133799606Missense_MutationGAp.P531S
MELJUSO_SKIN133799566133799677133799609133799609Missense_MutationCTp.E530K
SNU1040_LARGE_INTESTINE133799566133799677133799615133799615Missense_MutationAGp.S528P
NCIH2818_PLEURA133799566133799677133799618133799618Missense_MutationCTp.V527M
GP2D_LARGE_INTESTINE133799566133799677133799638133799638Missense_MutationAGp.V520A
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE133799566133799677133799640133799640Missense_MutationCAp.Q519H
OVSAHO_OVARY133799566133799677133799653133799653Missense_MutationCTp.S515N
EN_ENDOMETRIUM133799566133799677133799653133799653Missense_MutationCTp.S515N
VMRCRCW_KIDNEY133799566133799677133799660133799660Missense_MutationGTp.P513T
HS746T_STOMACH133805948133806089133806018133806018Missense_MutationGAp.R251W
HEC251_ENDOMETRIUM133805948133806089133806065133806065Missense_MutationGAp.P235L
5637_URINARY_TRACT133789637133791292133789698133789698Nonsense_MutationGAp.R1308*
WSUNHL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE133789637133791292133790031133790031Nonsense_MutationGAp.Q1197*

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for IGSF9B

check button sQTL information located at the skipped exons.
Exon skip IDChromosomeThree exonsSkippped exonENSTCancer typeSNP idLocationDNA change (ref/var)P-value
exon_skip_7871211133801965:133802108:133805511:133805657:133805947:133806089133805511:133805657ENST00000321016.8,ENST00000527648.2,ENST00000533871.2GBMrs329637chr11:133805585C/T5.77e-06
exon_skip_7871211133801965:133802108:133805511:133805657:133805947:133806089133805511:133805657ENST00000321016.8,ENST00000527648.2,ENST00000533871.2GBMrs329637chr11:133805585C/T2.53e-04
exon_skip_7871211133801965:133802108:133805511:133805657:133805947:133806089133805511:133805657ENST00000321016.8,ENST00000527648.2,ENST00000533871.2LGGrs329637chr11:133805585C/T2.87e-04
exon_skip_7871211133801965:133802108:133805511:133805657:133805947:133806089133805511:133805657ENST00000321016.8,ENST00000527648.2,ENST00000533871.2LGGrs329637chr11:133805585C/T2.87e-04

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for IGSF9B


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for IGSF9B


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RelatedDrugs for IGSF9B

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 IGSF9B

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