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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 SH2D2A

check button Gene summary
Gene informationGene symbol

SH2D2A

Gene ID

9047

Gene nameSH2 domain containing 2A
SynonymsF2771|SCAP|TSAD|VRAP
Cytomap

1q23.1

Type of geneprotein-coding
DescriptionSH2 domain-containing protein 2ASH2 domain protein 2AT cell specific adapter protein TSAdT lymphocyte specific adaptor proteinVEGF receptor-associated protein
Modification date20180523
UniProtAcc

Q9NP31

ContextPubMed: SH2D2A [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 SH2D2A 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 SH2D2A

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 SH2D2A

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_334981156776035:156776365:156776966:156777137:156778994:156779282156776966:156777137ENSG00000027869.7ENST00000368198.3,ENST00000368199.3,ENST00000392306.2
exon_skip_335041156776966:156777137:156778994:156779282:156779452:156779599156778994:156779282ENSG00000027869.7ENST00000368198.3,ENST00000368199.3,ENST00000392306.2
exon_skip_335071156779452:156779599:156783639:156783808:156783996:156784086156783639:156783808ENSG00000027869.7ENST00000486350.1,ENST00000368198.3,ENST00000368199.3,ENST00000392306.2

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

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Exon skipping events with PSIs in GTEx for SH2D2A

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_334981156776035:156776365:156776966:156777137:156778994:156779282156776966:156777137ENSG00000027869.7ENST00000368198.3,ENST00000368199.3,ENST00000392306.2
exon_skip_335041156776966:156777137:156778994:156779282:156779452:156779599156778994:156779282ENSG00000027869.7ENST00000368198.3,ENST00000368199.3,ENST00000392306.2
exon_skip_335071156779452:156779599:156783639:156783808:156783996:156784086156783639:156783808ENSG00000027869.7ENST00000368198.3,ENST00000368199.3,ENST00000392306.2,ENST00000486350.1

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 SH2D2A

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
ENST000003681991567769661567771375CDS-5UTR
ENST00000368199156783639156783808Frame-shift
ENST00000368199156778994156779282In-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
ENST000003681991567769661567771375CDS-5UTR
ENST00000368199156783639156783808Frame-shift
ENST00000368199156778994156779282In-frame

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Infer the effects of exon skipping event on protein functional features for SH2D2A

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
ENST0000036819916753891567789941567792828691156238334

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
ENST0000036819916753891567789941567792828691156238334

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
Q9NP312383341389ChainID=PRO_0000097726;Note=SH2 domain-containing protein 2A
Q9NP31238334187389Compositional biasNote=Pro-rich
Q9NP31238334296296Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648
Q9NP31238334244250MotifNote=SH3-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9NP31238334272278MotifNote=SH3-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9NP31238334272272Natural variantID=VAR_056986;Note=R->C;Dbxref=dbSNP:rs12072861


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
Q9NP312383341389ChainID=PRO_0000097726;Note=SH2 domain-containing protein 2A
Q9NP31238334187389Compositional biasNote=Pro-rich
Q9NP31238334296296Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648
Q9NP31238334244250MotifNote=SH3-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9NP31238334272278MotifNote=SH3-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9NP31238334272272Natural variantID=VAR_056986;Note=R->C;Dbxref=dbSNP:rs12072861


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SNVs in the skipped exons for SH2D2A

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-A1EG-01exon_skip_33504
156778995156779282156779178156779178Frame_Shift_DelG-p.P283fs
LIHCTCGA-G3-A3CJ-01exon_skip_33504
156778995156779282156779227156779227Frame_Shift_DelG-p.P267fs
KICHTCGA-KL-8337-01exon_skip_33498
156776967156777137156777068156777069Frame_Shift_Ins-Tp.Q367fs
COADTCGA-A6-6141-01exon_skip_33504
156778995156779282156779201156779201Nonsense_MutationGAp.R238X
COADTCGA-AA-3510-01exon_skip_33504
156778995156779282156778993156778993Splice_SiteAC.

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
SNU1_STOMACH156776967156777137156776994156776994Missense_MutationCAp.W382C
HEC59_ENDOMETRIUM156776967156777137156776999156776999Missense_MutationCTp.A381T
BT12_SOFT_TISSUE156776967156777137156777053156777053Missense_MutationTCp.R363G
CHLA32_BONE156776967156777137156777053156777053Missense_MutationTCp.R363G
OC316_OVARY156776967156777137156777053156777053Missense_MutationTCp.R363G
COGAR359_SOFT_TISSUE156776967156777137156777056156777056Missense_MutationAGp.W362R
647V_URINARY_TRACT156776967156777137156777056156777056Missense_MutationAGp.W362R
KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE156776967156777137156777056156777056Missense_MutationAGp.W362R
MOGGUVW_CENTRAL_NERVOUS_SYSTEM156776967156777137156777056156777056Missense_MutationAGp.W362R
NCIH1048_LUNG156776967156777137156777056156777056Missense_MutationAGp.W362R
RCHACV_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE156776967156777137156777056156777056Missense_MutationAGp.W362R
RPMI2650_UPPER_AERODIGESTIVE_TRACT156776967156777137156777056156777056Missense_MutationAGp.W362R
SCC3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE156776967156777137156777056156777056Missense_MutationAGp.W362R
TOV21G_OVARY156776967156777137156777056156777056Missense_MutationAGp.W362R
COGAR359_SOFT_TISSUE156776967156777137156777059156777059Missense_MutationCGp.A361P
HUH6CLONE5_LIVER156776967156777137156777059156777059Missense_MutationCTp.A361T
HUH6_LIVER156776967156777137156777059156777059Missense_MutationCTp.A361T
A427_LUNG156776967156777137156777070156777070Missense_MutationTGp.Q357P
A431_SKIN156776967156777137156777070156777070Missense_MutationTGp.Q357P
ANGMCSS_CENTRAL_NERVOUS_SYSTEM156776967156777137156777070156777070Missense_MutationTGp.Q357P
BT12_SOFT_TISSUE156776967156777137156777070156777070Missense_MutationTGp.Q357P
BT16_SOFT_TISSUE156776967156777137156777070156777070Missense_MutationTGp.Q357P
CHLA9_BONE156776967156777137156777070156777070Missense_MutationTGp.Q357P
COGN305_AUTONOMIC_GANGLIA156776967156777137156777070156777070Missense_MutationTGp.Q357P
KARPAS384_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE156776967156777137156777070156777070Missense_MutationTGp.Q357P
KD_SOFT_TISSUE156776967156777137156777070156777070Missense_MutationTGp.Q357P
L82_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE156776967156777137156777070156777070Missense_MutationTGp.Q357P
MM127_SKIN156776967156777137156777070156777070Missense_MutationTGp.Q357P
NCIH2004RT_SOFT_TISSUE156776967156777137156777070156777070Missense_MutationTGp.Q357P
NCIH2887_LUNG156776967156777137156777070156777070Missense_MutationTGp.Q357P
NCIH3122_LUNG156776967156777137156777070156777070Missense_MutationTGp.Q357P
PACADD137_PANCREAS156776967156777137156777070156777070Missense_MutationTGp.Q357P
RHJT_SOFT_TISSUE156776967156777137156777070156777070Missense_MutationTGp.Q357P
SAOS2_BONE156776967156777137156777070156777070Missense_MutationTGp.Q357P
SKRC20_KIDNEY156776967156777137156777070156777070Missense_MutationTGp.Q357P
SNU410_PANCREAS156776967156777137156777070156777070Missense_MutationTGp.Q357P
TC138_BONE156776967156777137156777070156777070Missense_MutationTGp.Q357P
UW228_CENTRAL_NERVOUS_SYSTEM156776967156777137156777070156777070Missense_MutationTGp.Q357P
HEC265_ENDOMETRIUM156776967156777137156777077156777077Missense_MutationGAp.P355S
ESO26_OESOPHAGUS156776967156777137156777078156777079Missense_MutationCAAGp.L354P
LAN2_AUTONOMIC_GANGLIA156776967156777137156777078156777079Missense_MutationCAAGp.L354P
BT16_SOFT_TISSUE156776967156777137156777079156777079Missense_MutationAGp.L354P
C84_LARGE_INTESTINE156776967156777137156777079156777079Missense_MutationAGp.L354P
C99_LARGE_INTESTINE156776967156777137156777079156777079Missense_MutationAGp.L354P
CHLA32_BONE156776967156777137156777079156777079Missense_MutationAGp.L354P
COGN278_AUTONOMIC_GANGLIA156776967156777137156777079156777079Missense_MutationAGp.L354P
HCC461_LUNG156776967156777137156777079156777079Missense_MutationAGp.L354P
HCC827GR5_LUNG156776967156777137156777079156777079Missense_MutationAGp.L354P
JAR_PLACENTA156776967156777137156777079156777079Missense_MutationAGp.L354P
LN215_CENTRAL_NERVOUS_SYSTEM156776967156777137156777079156777079Missense_MutationAGp.L354P
MYLA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE156776967156777137156777079156777079Missense_MutationAGp.L354P
NCIH2887_LUNG156776967156777137156777079156777079Missense_MutationAGp.L354P
OCILY12_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE156776967156777137156777079156777079Missense_MutationAGp.L354P
RH30_SOFT_TISSUE156776967156777137156777079156777079Missense_MutationAGp.L354P
SIHA_CERVIX156776967156777137156777079156777079Missense_MutationAGp.L354P
SKPNDW_BONE156776967156777137156777079156777079Missense_MutationAGp.L354P
SNU410_PANCREAS156776967156777137156777079156777079Missense_MutationAGp.L354P
SW982_SOFT_TISSUE156776967156777137156777079156777079Missense_MutationAGp.L354P
TC106_BONE156776967156777137156777079156777079Missense_MutationAGp.L354P
UMUC6_URINARY_TRACT156776967156777137156777079156777079Missense_MutationAGp.L354P
Y79_AUTONOMIC_GANGLIA156776967156777137156777079156777079Missense_MutationAGp.L354P
TE4_OESOPHAGUS156776967156777137156777082156777082Missense_MutationGTp.P353H
OCIM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE156776967156777137156777128156777128Missense_MutationCTp.G338S
HCT15_LARGE_INTESTINE156776967156777137156777131156777131Missense_MutationCAp.G337C
BB65EBV_MATCHED_NORMAL_TISSUE156778995156779282156779009156779009Missense_MutationCTp.V330I
BB65RCC_KIDNEY156778995156779282156779009156779009Missense_MutationCTp.V330I
C33A_CERVIX156778995156779282156779054156779054Missense_MutationCTp.A315T
GSS_STOMACH156778995156779282156779075156779075Missense_MutationCAp.V308L
KHYG_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE156778995156779282156779117156779117Missense_MutationGAp.R294W
KYSE150_OESOPHAGUS156778995156779282156779117156779117Missense_MutationGAp.R294W
MERO25_LUNG156778995156779282156779126156779126Missense_MutationCGp.A291P
JL1_PLEURA156778995156779282156779135156779135Missense_MutationCGp.A288P
CW2_LARGE_INTESTINE156778995156779282156779194156779194Missense_MutationCTp.R268H

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SH2D2A

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 SH2D2A


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SH2D2A


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RelatedDrugs for SH2D2A

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 SH2D2A

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