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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 TDRD5

check button Gene summary
Gene informationGene symbol

TDRD5

Gene ID

163589

Gene nametudor domain containing 5
SynonymsTUDOR3
Cytomap

1q25.2

Type of geneprotein-coding
Descriptiontudor domain-containing protein 5testicular tissue protein Li 194
Modification date20180519
UniProtAcc

Q8NAT2

ContextPubMed: TDRD5 [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 TDRD5 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 TDRD5

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 TDRD5

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_144251179561736:179561982:179562594:179563002:179564762:179564953179562594:179563002ENSG00000162782.11ENST00000444136.1,ENST00000294848.8,ENST00000367614.1
exon_skip_144351179562594:179563002:179564762:179564953:179587733:179587817179564762:179564953ENSG00000162782.11ENST00000444136.1,ENST00000294848.8,ENST00000367614.1
exon_skip_144381179587733:179587817:179590169:179590226:179599901:179600055179590169:179590226ENSG00000162782.11ENST00000444136.1,ENST00000294848.8,ENST00000367614.1
exon_skip_144391179604801:179605022:179608973:179609186:179609513:179609580179608973:179609186ENSG00000162782.11ENST00000444136.1,ENST00000294848.8,ENST00000367614.1
exon_skip_144401179609513:179609580:179620001:179620202:179621173:179621332179620001:179620202ENSG00000162782.11ENST00000444136.1,ENST00000294848.8,ENST00000367614.1,ENST00000417329.1
exon_skip_144421179621173:179621332:179623335:179623497:179631238:179631421179623335:179623497ENSG00000162782.11ENST00000444136.1,ENST00000417329.1
exon_skip_144441179631238:179631421:179632482:179632626:179638328:179638539179632482:179632626ENSG00000162782.11ENST00000444136.1,ENST00000294848.8,ENST00000367614.1,ENST00000417329.1
exon_skip_144461179632482:179632626:179638328:179638539:179659830:179660398179638328:179638539ENSG00000162782.11ENST00000444136.1,ENST00000294848.8,ENST00000367614.1,ENST00000417329.1

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

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Exon skipping events with PSIs in GTEx for TDRD5

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_144351179562594:179563002:179564762:179564953:179587733:179587817179564762:179564953ENSG00000162782.11ENST00000367614.1,ENST00000294848.8,ENST00000444136.1
exon_skip_144381179587733:179587817:179590169:179590226:179599901:179600055179590169:179590226ENSG00000162782.11ENST00000367614.1,ENST00000294848.8,ENST00000444136.1
exon_skip_144391179604801:179605022:179608973:179609186:179609513:179609580179608973:179609186ENSG00000162782.11ENST00000367614.1,ENST00000294848.8,ENST00000444136.1
exon_skip_144401179609513:179609580:179620001:179620202:179621173:179621332179620001:179620202ENSG00000162782.11ENST00000367614.1,ENST00000294848.8,ENST00000444136.1,ENST00000417329.1
exon_skip_144421179621173:179621332:179623335:179623497:179631238:179631421179623335:179623497ENSG00000162782.11ENST00000444136.1,ENST00000417329.1
exon_skip_144441179631238:179631421:179632482:179632626:179638328:179638539179632482:179632626ENSG00000162782.11ENST00000367614.1,ENST00000294848.8,ENST00000444136.1,ENST00000417329.1
exon_skip_144461179632482:179632626:179638328:179638539:179659830:179660398179638328:179638539ENSG00000162782.11ENST00000367614.1,ENST00000294848.8,ENST00000444136.1,ENST00000417329.1

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 TDRD5

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
ENST00000444136179564762179564953Frame-shift
ENST00000444136179638328179638539Frame-shift
ENST00000444136179562594179563002In-frame
ENST00000444136179590169179590226In-frame
ENST00000444136179608973179609186In-frame
ENST00000444136179620001179620202In-frame
ENST00000444136179623335179623497In-frame
ENST00000444136179632482179632626In-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
ENST00000444136179564762179564953Frame-shift
ENST00000444136179638328179638539Frame-shift
ENST00000444136179590169179590226In-frame
ENST00000444136179608973179609186In-frame
ENST00000444136179620001179620202In-frame
ENST00000444136179623335179623497In-frame
ENST00000444136179632482179632626In-frame

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Infer the effects of exon skipping event on protein functional features for TDRD5

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
ENST00000444136369598117956259417956300248389077213
ENST00000444136369598117959016917959022611661222305324
ENST00000444136369598117960897317960918617711983507577
ENST00000444136369598117962000117962020220512251600667
ENST00000444136369598117962333517962349724112572720774
ENST00000444136369598117963248217963262627562899835883

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
ENST00000444136369598117959016917959022611661222305324
ENST00000444136369598117960897317960918617711983507577
ENST00000444136369598117962000117962020220512251600667
ENST00000444136369598117962333517962349724112572720774
ENST00000444136369598117963248217963262627562899835883

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
Q8NAT2772137578Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3S93
Q8NAT2772131981ChainID=PRO_0000183166;Note=Tudor domain-containing protein 5
Q8NAT277213780DomainNote=HTH OST-type 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00975
Q8NAT277213127202DomainNote=HTH OST-type 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00975
Q8NAT277213104104Natural variantID=VAR_031209;Note=M->T;Dbxref=dbSNP:rs12066948
Q8NAT277213126126Sequence conflictNote=R->S;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q8NAT277213126126Sequence conflictNote=R->S;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q8NAT23053241981ChainID=PRO_0000183166;Note=Tudor domain-containing protein 5
Q8NAT2305324295369DomainNote=HTH OST-type 3;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00975
Q8NAT25075771981ChainID=PRO_0000183166;Note=Tudor domain-containing protein 5
Q8NAT2507577525584DomainNote=Tudor;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00211
Q8NAT26006671981ChainID=PRO_0000183166;Note=Tudor domain-containing protein 5
Q8NAT2720774720720Alternative sequenceID=VSP_023968;Note=In isoform 1. L->LQDINDEKSLSHLKSESKEPLKDSEFESLKTCNKSFEEDPKWSNPEPNDLKEENE;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q8NAT27207741981ChainID=PRO_0000183166;Note=Tudor domain-containing protein 5
Q8NAT2720774722722Natural variantID=VAR_036706;Note=E->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs35448215,PMID:15489334
Q8NAT28358831981ChainID=PRO_0000183166;Note=Tudor domain-containing protein 5


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
Q8NAT23053241981ChainID=PRO_0000183166;Note=Tudor domain-containing protein 5
Q8NAT2305324295369DomainNote=HTH OST-type 3;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00975
Q8NAT25075771981ChainID=PRO_0000183166;Note=Tudor domain-containing protein 5
Q8NAT2507577525584DomainNote=Tudor;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00211
Q8NAT26006671981ChainID=PRO_0000183166;Note=Tudor domain-containing protein 5
Q8NAT2720774720720Alternative sequenceID=VSP_023968;Note=In isoform 1. L->LQDINDEKSLSHLKSESKEPLKDSEFESLKTCNKSFEEDPKWSNPEPNDLKEENE;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q8NAT27207741981ChainID=PRO_0000183166;Note=Tudor domain-containing protein 5
Q8NAT2720774722722Natural variantID=VAR_036706;Note=E->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs35448215,PMID:15489334
Q8NAT28358831981ChainID=PRO_0000183166;Note=Tudor domain-containing protein 5


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SNVs in the skipped exons for TDRD5

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-A39Y-01exon_skip_14439
179608974179609186179609025179609025Frame_Shift_DelT-p.C524fs
KIRCTCGA-B4-5377-01exon_skip_14439
179608974179609186179609030179609030Frame_Shift_DelT-p.I526fs
KIRPTCGA-B9-5155-01exon_skip_14439
179608974179609186179609125179609129Frame_Shift_DelGTGTT-p.557_559del
KIRPTCGA-B9-5155-01exon_skip_14439
179608974179609186179609125179609129Frame_Shift_DelGTGTT-p.V558fs
KIRPTCGA-B9-5155-01exon_skip_14439
179608974179609186179609125179609129Frame_Shift_DelGTGTT-p.VF558fs
LIHCTCGA-DD-A3A0-01exon_skip_14440
179620002179620202179620064179620064Frame_Shift_DelG-p.V621fs
ESCATCGA-L5-A4OI-01exon_skip_14440
179620002179620202179620102179620102Frame_Shift_DelT-p.I634fs
ESCATCGA-L5-A4OI-01exon_skip_14440
179620002179620202179620102179620102Frame_Shift_DelT-p.L636fs
LIHCTCGA-DD-A1EG-01exon_skip_14440
179620002179620202179620102179620102Frame_Shift_DelT-p.I634fs
STADTCGA-BR-6566-01exon_skip_14440
179620002179620202179620102179620102Frame_Shift_DelT-p.I634fs
LIHCTCGA-DD-A3A0-01exon_skip_14440
179620002179620202179620124179620124Frame_Shift_DelA-p.S641fs
LIHCTCGA-DD-A3A0-01exon_skip_14442
179623336179623497179623462179623462Frame_Shift_DelA-p.N763fs
LIHCTCGA-DD-A39Y-01exon_skip_14442
179623336179623497179623471179623471Frame_Shift_DelC-p.P766fs
LIHCTCGA-DD-A39Y-01exon_skip_14444
179632483179632626179632491179632491Frame_Shift_DelT-p.C838fs
UCECTCGA-BS-A0U7-01exon_skip_14425
179562595179563002179562637179562638Frame_Shift_Ins-Ap.A92fs
LUADTCGA-49-6744-01exon_skip_14425
179562595179563002179562702179562702Nonsense_MutationGTp.G114*
LIHCTCGA-CC-A8HU-01exon_skip_14435
179564763179564953179564900179564900Nonsense_MutationATp.K260X
LIHCTCGA-FV-A2QR-01exon_skip_14435
179564763179564953179564922179564922Nonsense_MutationCGp.S267*
LIHCTCGA-FV-A2QR-01exon_skip_14435
179564763179564953179564922179564922Nonsense_MutationCGp.S267X
READTCGA-EI-6917-01exon_skip_14439
179608974179609186179609005179609005Nonsense_MutationCTp.R518X
SKCMTCGA-EE-A2GC-06exon_skip_14439
179608974179609186179609005179609005Nonsense_MutationCTp.R518*
SKCMTCGA-EE-A2GC-06exon_skip_14439
179608974179609186179609005179609005Nonsense_MutationCTp.R518X
SKCMTCGA-EE-A2GL-06exon_skip_14439
179608974179609186179609005179609005Nonsense_MutationCTp.R518*
LUADTCGA-17-Z055-01exon_skip_14440
179620002179620202179620108179620108Nonsense_MutationTAp.L636*
LIHCTCGA-CC-5258-01exon_skip_14442
179623336179623497179623394179623394Nonsense_MutationTGp.L740*
LIHCTCGA-CC-5258-01exon_skip_14442
179623336179623497179623394179623394Nonsense_MutationTGp.L740X
UCECTCGA-BS-A0U8-01exon_skip_14444
179632483179632626179632591179632591Nonsense_MutationCTp.Q818*
UCECTCGA-BS-A0U8-01exon_skip_14444
179632483179632626179632591179632591Nonsense_MutationCTp.Q872*
LUSCTCGA-66-2787-01exon_skip_14444
179632483179632626179632621179632621Nonsense_MutationCTp.Q882*
ESCATCGA-L5-A8NV-01exon_skip_14438
179590170179590226179590227179590230Splice_SiteGTAA-e5+1
UCECTCGA-AP-A056-01exon_skip_14444
179632483179632626179632482179632482Splice_SiteGTe14-1

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
DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE179620002179620202179620102179620102Frame_Shift_DelT-p.I634fs
GP2D_LARGE_INTESTINE179620002179620202179620102179620102Frame_Shift_DelT-p.I634fs
GP5D_LARGE_INTESTINE179620002179620202179620102179620102Frame_Shift_DelT-p.I634fs
HCC1569_BREAST179620002179620202179620102179620102Frame_Shift_DelT-p.I634fs
DG75_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE179562595179563002179562609179562609Missense_MutationTCp.S83P
DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE179562595179563002179562623179562623Missense_MutationAGp.I87M
U118MG_CENTRAL_NERVOUS_SYSTEM179562595179563002179562650179562650Missense_MutationCAp.S96R
NCIH2110_LUNG179562595179563002179562653179562653Missense_MutationCAp.S97R
NCIH630_LARGE_INTESTINE179562595179563002179562712179562712Missense_MutationCTp.S117F
NB12_AUTONOMIC_GANGLIA179562595179563002179562735179562735Missense_MutationGAp.G125R
NCIH2081_LUNG179562595179563002179562770179562770Missense_MutationGTp.K136N
CAL39_VULVA179562595179563002179562810179562810Missense_MutationCTp.L150F
PEER_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE179562595179563002179562870179562870Missense_MutationTCp.Y170H
NB1_AUTONOMIC_GANGLIA179562595179563002179562937179562937Missense_MutationGTp.R192I
NCIH2347_LUNG179562595179563002179562962179562962Missense_MutationGCp.K200N
NCIH2887_LUNG179564763179564953179564786179564786Missense_MutationAGp.R222G
OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE179564763179564953179564816179564816Missense_MutationTAp.F232I
A375_SKIN179564763179564953179564919179564919Missense_MutationCTp.T266I
MDAMB361_BREAST179564763179564953179564919179564919Missense_MutationCTp.T266I
BT474_BREAST179590170179590226179590224179590224Missense_MutationGAp.E324K
NCIH1688_LUNG179590170179590226179590224179590224Missense_MutationGAp.E324K
VAL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE179590170179590226179590224179590224Missense_MutationGAp.E324K
HEC251_ENDOMETRIUM179608974179609186179609036179609036Missense_MutationCTp.P528L
NCIH513_PLEURA179608974179609186179609084179609084Missense_MutationGTp.R544L
KNS62_LUNG179608974179609186179609114179609114Missense_MutationATp.Q554L
HCC2998_LARGE_INTESTINE179608974179609186179609130179609130Missense_MutationCAp.F559L
D245MG_CENTRAL_NERVOUS_SYSTEM179620002179620202179620015179620015Missense_MutationCTp.S605L
SNU1040_LARGE_INTESTINE179620002179620202179620015179620015Missense_MutationCTp.S605L
SNU81_LARGE_INTESTINE179620002179620202179620037179620037Missense_MutationGTp.Q612H
CAL39_VULVA179620002179620202179620086179620086Missense_MutationGCp.D629H
PLCPRF5_LIVER179620002179620202179620090179620090Missense_MutationGAp.G630E
DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE179620002179620202179620114179620114Missense_MutationAGp.D638G
LB2518MEL_SKIN179620002179620202179620120179620120Missense_MutationCTp.S640F
ME180_CERVIX179620002179620202179620154179620154Missense_MutationGCp.L651F
FEPD_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE179632483179632626179632486179632486Missense_MutationTCp.W783R
WM983B_SKIN179632483179632626179632570179632570Missense_MutationACp.K811Q
TE15_OESOPHAGUS179632483179632626179632576179632576Missense_MutationGCp.E813Q
NCIH446_LUNG179632483179632626179632588179632588Missense_MutationGAp.A817T
HEC251_ENDOMETRIUM179638329179638539179638335179638335Missense_MutationGTp.D832Y
MUTZ5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE179638329179638539179638345179638345Missense_MutationGAp.G835D
CCK81_LARGE_INTESTINE179638329179638539179638389179638389Missense_MutationAGp.T850A
NCIH740_LUNG179638329179638539179638423179638423Missense_MutationGTp.G861V
NCIH1734_LUNG179638329179638539179638429179638429Missense_MutationACp.Q863P
C80_LARGE_INTESTINE179638329179638539179638516179638516Missense_MutationCGp.S892C
JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE179638329179638539179638525179638525Missense_MutationAGp.K895R
HCC2998_LARGE_INTESTINE179562595179563002179562663179562663Nonsense_MutationCTp.R101*
TE6_OESOPHAGUS179562595179563002179562702179562702Nonsense_MutationGTp.G114*
JHUEM7_ENDOMETRIUM179562595179563002179562720179562720Nonsense_MutationCTp.R120*
JHUEM7_ENDOMETRIUM179620002179620202179620077179620077Nonsense_MutationGTp.E626*
NCIH460_LUNG179564763179564953179564953179564953Splice_SiteGAp.Q277Q

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for TDRD5

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 TDRD5


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TDRD5


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RelatedDrugs for TDRD5

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 TDRD5

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