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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 TBC1D14

check button Gene summary
Gene informationGene symbol

TBC1D14

Gene ID

57533

Gene nameTBC1 domain family member 14
Synonyms-
Cytomap

4p16.1

Type of geneprotein-coding
DescriptionTBC1 domain family member 14
Modification date20180523
UniProtAcc

Q9P2M4

ContextPubMed: TBC1D14 [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 TBC1D14 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 TBC1D14

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 TBC1D14

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_42247846911170:6911232:6925099:6925838:6969030:69691516925099:6925838ENSG00000132405.14ENST00000448507.1
exon_skip_42247946925099:6925838:6969030:6969151:6995910:69960296969030:6969151ENSG00000132405.14ENST00000409757.4,ENST00000448507.1
exon_skip_42248146955946:6956065:6969030:6969151:6995910:69960296969030:6969151ENSG00000132405.14ENST00000410031.1
exon_skip_42248546995935:6996029:6998051:6998134:7000811:70009296998051:6998134ENSG00000132405.14ENST00000467966.1,ENST00000409757.4,ENST00000410031.1,ENST00000448507.1,ENST00000451522.2
exon_skip_42248747000909:7000929:7002871:7002978:7006570:70066517002871:7002978ENSG00000132405.14ENST00000409757.4,ENST00000410031.1,ENST00000448507.1,ENST00000446947.2,ENST00000451522.2,ENST00000439515.2
exon_skip_42249147002871:7002978:7006570:7006651:7008358:70084537006570:7006651ENSG00000132405.14ENST00000409757.4,ENST00000410031.1,ENST00000448507.1,ENST00000446947.2,ENST00000451522.2,ENST00000439515.2
exon_skip_42250047006570:7006651:7008358:7008453:7011603:70116757008358:7008453ENSG00000132405.14ENST00000409757.4,ENST00000410031.1,ENST00000448507.1,ENST00000451522.2
exon_skip_42250547008373:7008453:7009250:7009352:7011603:70116757009250:7009352ENSG00000132405.14ENST00000446947.2,ENST00000439515.2
exon_skip_42250747008358:7008453:7011603:7011675:7012379:70125047011603:7011675ENSG00000132405.14ENST00000409757.4,ENST00000410031.1,ENST00000448507.1,ENST00000451522.2
exon_skip_42250847009250:7009352:7011603:7011675:7012379:70125047011603:7011675ENSG00000132405.14ENST00000446947.2,ENST00000439515.2
exon_skip_42251147016174:7016284:7026730:7026989:7032053:70325477026730:7026989ENSG00000132405.14ENST00000409757.4,ENST00000410031.1,ENST00000448507.1,ENST00000446947.2,ENST00000451522.2

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

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Exon skipping events with PSIs in GTEx for TBC1D14

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_42247846911170:6911232:6925099:6925838:6969030:69691516925099:6925838ENSG00000132405.14ENST00000448507.1
exon_skip_42247946925099:6925838:6969030:6969151:6995910:69960296969030:6969151ENSG00000132405.14ENST00000448507.1,ENST00000409757.4
exon_skip_42248546995935:6996029:6998051:6998134:7000811:70009296998051:6998134ENSG00000132405.14ENST00000448507.1,ENST00000409757.4,ENST00000410031.1,ENST00000451522.2,ENST00000467966.1
exon_skip_42248747000909:7000929:7002871:7002978:7006570:70066517002871:7002978ENSG00000132405.14ENST00000448507.1,ENST00000409757.4,ENST00000410031.1,ENST00000451522.2,ENST00000439515.2,ENST00000446947.2
exon_skip_42249147002871:7002978:7006570:7006651:7008358:70084537006570:7006651ENSG00000132405.14ENST00000448507.1,ENST00000409757.4,ENST00000410031.1,ENST00000451522.2,ENST00000439515.2,ENST00000446947.2
exon_skip_42250047006570:7006651:7008358:7008453:7011603:70116757008358:7008453ENSG00000132405.14ENST00000448507.1,ENST00000409757.4,ENST00000410031.1,ENST00000451522.2
exon_skip_42250547008373:7008453:7009250:7009352:7011603:70116757009250:7009352ENSG00000132405.14ENST00000439515.2,ENST00000446947.2
exon_skip_42250747008358:7008453:7011603:7011675:7012379:70125047011603:7011675ENSG00000132405.14ENST00000448507.1,ENST00000409757.4,ENST00000410031.1,ENST00000451522.2
exon_skip_42250847009250:7009352:7011603:7011675:7012379:70125047011603:7011675ENSG00000132405.14ENST00000439515.2,ENST00000446947.2
exon_skip_42251147016174:7016284:7026730:7026989:7032053:70325477026730:7026989ENSG00000132405.14ENST00000448507.1,ENST00000409757.4,ENST00000410031.1,ENST00000451522.2,ENST00000446947.2

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 TBC1D14

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
ENST00000448507692509969258385CDS-5UTR
ENST0000040975769690306969151Frame-shift
ENST0000044850769690306969151Frame-shift
ENST0000040975769980516998134Frame-shift
ENST0000044850769980516998134Frame-shift
ENST0000040975770028717002978Frame-shift
ENST0000044850770028717002978Frame-shift
ENST0000040975770083587008453Frame-shift
ENST0000044850770083587008453Frame-shift
ENST0000040975770267307026989Frame-shift
ENST0000044850770267307026989Frame-shift
ENST0000040975770065707006651In-frame
ENST0000044850770065707006651In-frame
ENST0000040975770116037011675In-frame
ENST0000044850770116037011675In-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
ENST00000448507692509969258385CDS-5UTR
ENST0000040975769690306969151Frame-shift
ENST0000044850769690306969151Frame-shift
ENST0000040975769980516998134Frame-shift
ENST0000044850769980516998134Frame-shift
ENST0000040975770028717002978Frame-shift
ENST0000044850770028717002978Frame-shift
ENST0000040975770083587008453Frame-shift
ENST0000044850770083587008453Frame-shift
ENST0000040975770267307026989Frame-shift
ENST0000044850770267307026989Frame-shift
ENST0000040975770065707006651In-frame
ENST0000044850770065707006651In-frame
ENST0000040975770116037011675In-frame
ENST0000044850770116037011675In-frame

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Infer the effects of exon skipping event on protein functional features for TBC1D14

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
ENST0000040975749426937006570700665113951475423450
ENST0000044850749046937006570700665113501430423450
ENST0000040975749426937011603701167515711642482506
ENST0000044850749046937011603701167515261597482506

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
ENST0000040975749426937006570700665113951475423450
ENST0000044850749046937006570700665113501430423450
ENST0000040975749426937011603701167515711642482506
ENST0000044850749046937011603701167515261597482506

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
Q9P2M44234501693ChainID=PRO_0000208040;Note=TBC1 domain family member 14
Q9P2M44234501693ChainID=PRO_0000208040;Note=TBC1 domain family member 14
Q9P2M4423450401611DomainNote=Rab-GAP TBC;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00163
Q9P2M4423450401611DomainNote=Rab-GAP TBC;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00163
Q9P2M4423450423436HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2QQ8
Q9P2M4423450423436HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2QQ8
Q9P2M4423450446446Natural variantID=VAR_059856;Note=E->Q;Dbxref=dbSNP:rs11731231
Q9P2M4423450446446Natural variantID=VAR_059856;Note=E->Q;Dbxref=dbSNP:rs11731231
Q9P2M44825061693ChainID=PRO_0000208040;Note=TBC1 domain family member 14
Q9P2M44825061693ChainID=PRO_0000208040;Note=TBC1 domain family member 14
Q9P2M4482506401611DomainNote=Rab-GAP TBC;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00163
Q9P2M4482506401611DomainNote=Rab-GAP TBC;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00163
Q9P2M4482506487500HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2QQ8
Q9P2M4482506487500HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2QQ8
Q9P2M4482506502504TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2QQ8
Q9P2M4482506502504TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2QQ8


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
Q9P2M44234501693ChainID=PRO_0000208040;Note=TBC1 domain family member 14
Q9P2M44234501693ChainID=PRO_0000208040;Note=TBC1 domain family member 14
Q9P2M4423450401611DomainNote=Rab-GAP TBC;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00163
Q9P2M4423450401611DomainNote=Rab-GAP TBC;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00163
Q9P2M4423450423436HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2QQ8
Q9P2M4423450423436HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2QQ8
Q9P2M4423450446446Natural variantID=VAR_059856;Note=E->Q;Dbxref=dbSNP:rs11731231
Q9P2M4423450446446Natural variantID=VAR_059856;Note=E->Q;Dbxref=dbSNP:rs11731231
Q9P2M44825061693ChainID=PRO_0000208040;Note=TBC1 domain family member 14
Q9P2M44825061693ChainID=PRO_0000208040;Note=TBC1 domain family member 14
Q9P2M4482506401611DomainNote=Rab-GAP TBC;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00163
Q9P2M4482506401611DomainNote=Rab-GAP TBC;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00163
Q9P2M4482506487500HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2QQ8
Q9P2M4482506487500HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2QQ8
Q9P2M4482506502504TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2QQ8
Q9P2M4482506502504TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2QQ8


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SNVs in the skipped exons for TBC1D14

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-016925100692583869251696925169Frame_Shift_DelT-p.I18fs
LIHCTCGA-G3-A3CJ-016925100692583869253416925341Frame_Shift_DelC-p.N75fs
LIHCTCGA-DD-A1EG-016925100692583869255526925552Frame_Shift_DelA-p.K146fs
LIHCTCGA-DD-A3A0-016925100692583869256796925679Frame_Shift_DelC-p.A188fs
LIHCTCGA-DD-A39Y-01exon_skip_422487
7002872700297870029657002965Frame_Shift_DelA-p.L419fs
LIHCTCGA-DD-A39Y-01exon_skip_422511
7026731702698970267597026759Frame_Shift_DelC-p.P596fs
HNSCTCGA-CR-7367-01exon_skip_422511
7026731702698970268387026848Frame_Shift_DelTCCTGAAGCTG-p.I622fs
HNSCTCGA-CR-7367-01exon_skip_422511
7026731702698970268387026848Frame_Shift_DelTCCTGAAGCTG-p.ILKL622fs
COADTCGA-CA-6717-016925100692583869256396925639Nonsense_MutationGTp.E175X
UCECTCGA-AX-A06H-01exon_skip_422485
6998052699813469981316998131Nonsense_MutationCTp.R348*
UCECTCGA-BS-A0UL-01exon_skip_422485
6998052699813469981316998131Nonsense_MutationCTp.R348*
LUADTCGA-75-5146-01exon_skip_422491
7006571700665170066487006648Nonsense_MutationGTp.E450*

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
GP2D_LARGE_INTESTINE6969031696915169690606969060Frame_Shift_DelG-p.R251fs
HCC1438_LUNG6925100692583869252256925225Missense_MutationGTp.A37S
UMUC1_URINARY_TRACT6925100692583869252356925236Missense_MutationTCAGp.L40Q
22RV1_PROSTATE6925100692583869252956925295Missense_MutationGAp.S60N
SW48_LARGE_INTESTINE6925100692583869253136925313Missense_MutationCTp.S66L
NCIH1573_LUNG6925100692583869253246925324Missense_MutationATp.T70S
HKA1_SKIN6925100692583869253436925343Missense_MutationCTp.P76L
CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE6925100692583869254086925408Missense_MutationGAp.E98K
CW2_LARGE_INTESTINE6925100692583869254866925486Missense_MutationGAp.V124M
NBSUSSR_AUTONOMIC_GANGLIA6925100692583869255076925507Missense_MutationCTp.P131S
HCC15_LUNG6925100692583869255226925522Missense_MutationGTp.D136Y
RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE6925100692583869255286925528Missense_MutationGCp.V138L
LS411N_LARGE_INTESTINE6925100692583869255646925564Missense_MutationCGp.R150G
MFE319_ENDOMETRIUM6925100692583869255656925565Missense_MutationGAp.R150H
LS180_LARGE_INTESTINE6925100692583869255686925568Missense_MutationGTp.S151I
LS411N_LARGE_INTESTINE6925100692583869256186925618Missense_MutationAGp.T168A
LN18_CENTRAL_NERVOUS_SYSTEM6925100692583869256506925650Missense_MutationGTp.L178F
SNU1040_LARGE_INTESTINE6925100692583869257026925702Missense_MutationGAp.D196N
MN60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE6925100692583869258166925816Missense_MutationCTp.P234S
SNU1040_LARGE_INTESTINE6925100692583869258356925835Missense_MutationCTp.A240V
KMM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE6969031696915169690676969067Missense_MutationCAp.D253E
SNUC2A_LARGE_INTESTINE6998052699813469981126998112Missense_MutationGAp.M341I
SNUC2B_LARGE_INTESTINE6998052699813469981126998112Missense_MutationGAp.M341I
SKM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE6998052699813469981236998123Missense_MutationCTp.A345V
CAKI2_KIDNEY7002872700297870028947002895Missense_MutationGAATp.D396I
CAKI2_KIDNEY7002872700297870028947002894Missense_MutationGAp.D396N
CAKI2_KIDNEY7002872700297870028957002895Missense_MutationATp.D396V
SW684_SOFT_TISSUE7002872700297870029037002903Missense_MutationTGp.W399G
SKMEL2_SKIN7002872700297870029377002937Missense_MutationTCp.V410A
SNU1040_LARGE_INTESTINE7002872700297870029497002949Missense_MutationCTp.A414V
SNU407_LARGE_INTESTINE7006571700665170066127006612Missense_MutationCTp.R438W
SNU520_STOMACH7026731702698970267997026799Missense_MutationGAp.R609H
LC2AD_LUNG7026731702698970268217026821Missense_MutationCGp.F616L
RXF393_KIDNEY7026731702698970268317026831Missense_MutationCGp.L620V
NCIH1793_LUNG7026731702698970268727026872Missense_MutationGTp.M633I
MOLM16_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE7026731702698970268857026885Missense_MutationAGp.M638V
NALM19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE7026731702698970268857026885Missense_MutationAGp.M638V
PL21_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE7026731702698970268857026885Missense_MutationAGp.M638V
TM31_CENTRAL_NERVOUS_SYSTEM7026731702698970268857026885Missense_MutationAGp.M638V
KNS42_CENTRAL_NERVOUS_SYSTEM7026731702698970268857026885Missense_MutationAGp.M638V
KPNYN_AUTONOMIC_GANGLIA7026731702698970268857026885Missense_MutationAGp.M638V
MMACSF_SKIN7026731702698970268857026885Missense_MutationAGp.M638V
SNU1040_LARGE_INTESTINE7026731702698970268887026888Missense_MutationGAp.A639T
GP2D_LARGE_INTESTINE7026731702698970269167026916Missense_MutationATp.D648V
GP5D_LARGE_INTESTINE7026731702698970269167026916Missense_MutationATp.D648V
HOP92_LUNG7026731702698970269277026927Missense_MutationGAp.E652K

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for TBC1D14

check button sQTL information located at the skipped exons.
Exon skip IDChromosomeThree exonsSkippped exonENSTCancer typeSNP idLocationDNA change (ref/var)P-value
exon_skip_42247846911170:6911232:6925099:6925838:6969030:69691516925099:6925838ENST00000448507.1KICHrs34860182chr4:6925237C/G2.40e-04

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TBC1D14


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TBC1D14


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RelatedDrugs for TBC1D14

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 TBC1D14

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