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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 SEMA4A

check button Gene summary
Gene informationGene symbol

SEMA4A

Gene ID

64218

Gene namesemaphorin 4A
SynonymsCORD10|RP35|SEMAB|SEMB
Cytomap

1q22

Type of geneprotein-coding
Descriptionsemaphorin-4Asema Bsema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4Asemaphorin-B
Modification date20180523
UniProtAcc

Q9H3S1

ContextPubMed: SEMA4A [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 SEMA4A 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 SEMA4A

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 SEMA4A

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_119651156119809:156119884:156124340:156124508:156126204:156126365156124340:156124508ENSG00000196189.8ENST00000355014.2
exon_skip_119701156119993:156120054:156124340:156124776:156126204:156126365156124340:156124776ENSG00000196189.8ENST00000485575.1
exon_skip_119751156123397:156123555:156124340:156124508:156126204:156126365156124340:156124508ENSG00000196189.8ENST00000368285.3,ENST00000368286.2,ENST00000438830.1
exon_skip_119781156124340:156124508:156126204:156126365:156127860:156127923156126204:156126365ENSG00000196189.8ENST00000368285.3,ENST00000435124.1,ENST00000355014.2,ENST00000368286.2,ENST00000368282.1,ENST00000438830.1
exon_skip_119811156127860:156127923:156128178:156128277:156128509:156128615156128178:156128277ENSG00000196189.8ENST00000368285.3,ENST00000435124.1,ENST00000355014.2,ENST00000414683.1,ENST00000368282.1
exon_skip_119831156131136:156131309:156132734:156132885:156142616:156142797156132734:156132885ENSG00000196189.8ENST00000368284.1,ENST00000368285.3,ENST00000355014.2,ENST00000368286.2,ENST00000487358.1,ENST00000368282.1,ENST00000462892.1
exon_skip_119861156142616:156142797:156144612:156144731:156144876:156145023156144612:156144731ENSG00000196189.8ENST00000368284.1,ENST00000368285.3,ENST00000355014.2,ENST00000368286.2,ENST00000487358.1,ENST00000368282.1,ENST00000462892.1

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

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Exon skipping events with PSIs in GTEx for SEMA4A

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_119651156119809:156119884:156124340:156124508:156126204:156126365156124340:156124508ENSG00000196189.8ENST00000355014.2
exon_skip_119701156119993:156120054:156124340:156124776:156126204:156126365156124340:156124776ENSG00000196189.8ENST00000485575.1
exon_skip_119751156123397:156123555:156124340:156124508:156126204:156126365156124340:156124508ENSG00000196189.8ENST00000368285.3,ENST00000368286.2,ENST00000438830.1
exon_skip_119781156124340:156124508:156126204:156126365:156127860:156127923156126204:156126365ENSG00000196189.8ENST00000435124.1,ENST00000355014.2,ENST00000368285.3,ENST00000368286.2,ENST00000438830.1,ENST00000368282.1
exon_skip_119811156127860:156127923:156128178:156128277:156128509:156128615156128178:156128277ENSG00000196189.8ENST00000435124.1,ENST00000414683.1,ENST00000355014.2,ENST00000368285.3,ENST00000368282.1
exon_skip_119831156131136:156131309:156132734:156132885:156142616:156142797156132734:156132885ENSG00000196189.8ENST00000355014.2,ENST00000368285.3,ENST00000368284.1,ENST00000368286.2,ENST00000368282.1,ENST00000487358.1,ENST00000462892.1
exon_skip_119861156142616:156142797:156144612:156144731:156144876:156145023156144612:156144731ENSG00000196189.8ENST00000355014.2,ENST00000368285.3,ENST00000368284.1,ENST00000368286.2,ENST00000368282.1,ENST00000487358.1,ENST00000462892.1

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 SEMA4A

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
ENST000003550141561243401561245085CDS-5UTR
ENST000003682851561243401561245085CDS-5UTR
ENST00000355014156126204156126365Frame-shift
ENST00000368282156126204156126365Frame-shift
ENST00000368285156126204156126365Frame-shift
ENST00000355014156132734156132885Frame-shift
ENST00000368282156132734156132885Frame-shift
ENST00000368285156132734156132885Frame-shift
ENST00000355014156144612156144731Frame-shift
ENST00000368282156144612156144731Frame-shift
ENST00000368285156144612156144731Frame-shift
ENST00000355014156128178156128277In-frame
ENST00000368282156128178156128277In-frame
ENST00000368285156128178156128277In-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
ENST000003550141561243401561245085CDS-5UTR
ENST000003682851561243401561245085CDS-5UTR
ENST00000355014156126204156126365Frame-shift
ENST00000368282156126204156126365Frame-shift
ENST00000368285156126204156126365Frame-shift
ENST00000355014156132734156132885Frame-shift
ENST00000368282156132734156132885Frame-shift
ENST00000368285156132734156132885Frame-shift
ENST00000355014156144612156144731Frame-shift
ENST00000368282156144612156144731Frame-shift
ENST00000368285156144612156144731Frame-shift
ENST00000355014156128178156128277In-frame
ENST00000368282156128178156128277In-frame
ENST00000368285156128178156128277In-frame

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Infer the effects of exon skipping event on protein functional features for SEMA4A

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
ENST000003550143154761156128178156128277468566121154
ENST000003682823266761156128178156128277572670121154
ENST000003682853317761156128178156128277631729121154

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
ENST000003550143154761156128178156128277468566121154
ENST000003682823266761156128178156128277572670121154
ENST000003682853317761156128178156128277631729121154

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
Q9H3S1121154122154Alternative sequenceID=VSP_046382;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q9H3S1121154122154Alternative sequenceID=VSP_046382;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q9H3S1121154122154Alternative sequenceID=VSP_046382;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q9H3S112115433761ChainID=PRO_0000032322;Note=Semaphorin-4A
Q9H3S112115433761ChainID=PRO_0000032322;Note=Semaphorin-4A
Q9H3S112115433761ChainID=PRO_0000032322;Note=Semaphorin-4A
Q9H3S1121154113124Disulfide bondOntology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00352
Q9H3S1121154113124Disulfide bondOntology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00352
Q9H3S1121154113124Disulfide bondOntology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00352
Q9H3S1121154142151Disulfide bondOntology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00352
Q9H3S1121154142151Disulfide bondOntology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00352
Q9H3S1121154142151Disulfide bondOntology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00352
Q9H3S112115436494DomainNote=Sema;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00352
Q9H3S112115436494DomainNote=Sema;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00352
Q9H3S112115436494DomainNote=Sema;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00352
Q9H3S1121154135135GlycosylationNote=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9H3S1121154135135GlycosylationNote=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9H3S1121154135135GlycosylationNote=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9H3S112115433683Topological domainNote=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9H3S112115433683Topological domainNote=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9H3S112115433683Topological domainNote=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255


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
Q9H3S1121154122154Alternative sequenceID=VSP_046382;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q9H3S1121154122154Alternative sequenceID=VSP_046382;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q9H3S1121154122154Alternative sequenceID=VSP_046382;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q9H3S112115433761ChainID=PRO_0000032322;Note=Semaphorin-4A
Q9H3S112115433761ChainID=PRO_0000032322;Note=Semaphorin-4A
Q9H3S112115433761ChainID=PRO_0000032322;Note=Semaphorin-4A
Q9H3S1121154113124Disulfide bondOntology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00352
Q9H3S1121154113124Disulfide bondOntology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00352
Q9H3S1121154113124Disulfide bondOntology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00352
Q9H3S1121154142151Disulfide bondOntology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00352
Q9H3S1121154142151Disulfide bondOntology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00352
Q9H3S1121154142151Disulfide bondOntology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00352
Q9H3S112115436494DomainNote=Sema;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00352
Q9H3S112115436494DomainNote=Sema;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00352
Q9H3S112115436494DomainNote=Sema;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00352
Q9H3S1121154135135GlycosylationNote=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9H3S1121154135135GlycosylationNote=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9H3S1121154135135GlycosylationNote=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9H3S112115433683Topological domainNote=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9H3S112115433683Topological domainNote=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9H3S112115433683Topological domainNote=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255


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SNVs in the skipped exons for SEMA4A

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-A3A0-01exon_skip_11978
156126205156126365156126254156126254Frame_Shift_DelT-p.D63fs
COADTCGA-AA-A00K-01exon_skip_11978
156126205156126365156126289156126290Frame_Shift_DelCT-p.75_75del
LIHCTCGA-DD-A1EG-01exon_skip_11978
156126205156126365156126299156126299Frame_Shift_DelG-p.V78fs
LIHCTCGA-DD-A39Y-01exon_skip_11978
156126205156126365156126299156126299Frame_Shift_DelG-p.V78fs
LIHCTCGA-DD-A1EG-01exon_skip_11983
156132735156132885156132858156132858Frame_Shift_DelC-p.G369fs
LIHCTCGA-DD-A1EG-01exon_skip_11983
156132735156132885156132870156132870Frame_Shift_DelC-p.N373fs
LIHCTCGA-DD-A39Y-01exon_skip_11983
156132735156132885156132870156132870Frame_Shift_DelC-p.N373fs
LIHCTCGA-DD-A3A0-01exon_skip_11986
156144613156144731156144645156144645Frame_Shift_DelG-p.G450fs
BLCATCGA-ZF-AA51-01exon_skip_11986
156144613156144731156144686156144686Frame_Shift_DelC-p.F463fs
LIHCTCGA-DD-A3A0-01exon_skip_11986
156144613156144731156144721156144721Frame_Shift_DelC-p.A475fs
SKCMTCGA-EB-A44Q-06exon_skip_11983
156132735156132885156132735156132735Nonsense_MutationGAp.W328X
STADTCGA-BR-8487-01exon_skip_11975
exon_skip_11965
156124341156124508156124510156124510Splice_SiteTC.
STADTCGA-BR-8487-01exon_skip_11975
exon_skip_11965
156124341156124508156124510156124510Splice_SiteTCp.G47_splice
STADTCGA-BR-8284-01exon_skip_11983
156132735156132885156132886156132886Splice_SiteGAp.S378_splice
UCECTCGA-D1-A17B-01exon_skip_11983
156132735156132885156132886156132886Splice_SiteGTp.S378_splice
UCECTCGA-AP-A059-01exon_skip_11986
156144613156144731156144612156144612Splice_SiteGAe11-1
KIRCTCGA-B8-A54G-01exon_skip_11986
156144613156144731156144733156144733Splice_SiteTC.

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
KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE156124341156124776156124452156124452Missense_MutationCTp.T28M
KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE156124341156124508156124452156124452Missense_MutationCTp.T28M
LB2241RCC_KIDNEY156124341156124776156124503156124503Missense_MutationAGp.Y45C
LB2241RCC_KIDNEY156124341156124508156124503156124503Missense_MutationAGp.Y45C
SARC9371_BONE156126205156126365156126208156126208Missense_MutationATp.D48V
TE5_OESOPHAGUS156126205156126365156126279156126279Missense_MutationGAp.D72N
HEC151_ENDOMETRIUM156126205156126365156126297156126297Missense_MutationGAp.V78M
JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE156128179156128277156128240156128240Missense_MutationGAp.C142Y
NCIH446_LUNG156128179156128277156128242156128242Missense_MutationGTp.G143C
SNGM_ENDOMETRIUM156128179156128277156128251156128251Missense_MutationGAp.A146T
NCIH345_LUNG156128179156128277156128269156128269Missense_MutationAGp.T152A
AU565_BREAST156144613156144731156144619156144619Missense_MutationGAp.G441E
HEC59_ENDOMETRIUM156144613156144731156144622156144622Missense_MutationCTp.S442L
SNU1040_LARGE_INTESTINE156144613156144731156144628156144628Missense_MutationAGp.H444R
SARC9371_BONE156126205156126365156126206156126206Splice_SiteGAp.G47G
MOLP2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE156144613156144731156144730156144730Splice_SiteAGp.Q478R
QGP1_PANCREAS156144613156144731156144731156144731Splice_SiteGAp.Q478Q

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SEMA4A

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 SEMA4A


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SEMA4A


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RelatedDrugs for SEMA4A

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 SEMA4A

check button Diseases associated with this gene.
(DisGeNet 4.0)
GeneDisease IDDisease name# pubmedsSource
SEMA4AC1853214RETINITIS PIGMENTOSA 351CTD_human;UNIPROT