ExonSkipDB Logo

Home

Download

Statistics

Landscape

Help

Contact

Center for Computational Systems Medicine
leaf

Gene summary

leaf

Gene structures and expression levels

leaf

Exon skipping events with PSIs in TCGA

leaf

Exon skipping events with PSIs in GTEx

leaf

Open reading frame (ORF) annotation in the exon skipping event

leaf

Exon skipping events in the canonical protein sequence

leaf

SNVs in the skipped exons with depth of coverage

leaf

Splicing Quantitative Trait Loci (sQTLs) in the skipped exons

leaf

Splicing Quantitative Trait Methylation (sQTM) in the skipped exon

leaf

Related drugs with this gene

leaf

Related diseases with this gene

Gene summary for YIF1A

check button Gene summary
Gene informationGene symbol

YIF1A

Gene ID

10897

Gene nameYip1 interacting factor homolog A, membrane trafficking protein
Synonyms54TM|FinGER7|YIF1|YIF1P
Cytomap

11q13.2

Type of geneprotein-coding
Descriptionprotein YIF1A54TMpYIP1-interacting factor homolog AYip1p-interacting factorputative Rab5-interacting proteinputative transmembrane protein 54TMp
Modification date20180523
UniProtAcc

O95070

ContextPubMed: YIF1A [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

Top

Exon skipping events across known transcript of Ensembl for YIF1A 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

Top

Gene isoform structures and expression levels for YIF1A

check button Expression levels of gene isoforms across TCGA.
gencode gene structure

check button Expression levels of gene isoforms across GTEx.
gencode gene structure


Top

Exon skipping events with PSIs in TCGA for YIF1A

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_745381166052393:66052437:66052851:66053007:66053171:6605322966052851:66053007ENSG00000174851.10ENST00000471387.2,ENST00000526497.1,ENST00000376901.4
exon_skip_745431166052386:66052437:66053171:66053229:66055068:6605514766053171:66053229ENSG00000174851.10ENST00000359461.6
exon_skip_745531166052954:66053007:66053171:66053229:66055068:6605514766053171:66053229ENSG00000174851.10ENST00000471387.2,ENST00000376901.4
exon_skip_745621166053171:66053229:66054411:66054485:66055068:6605514766054411:66054485ENSG00000174851.10ENST00000484814.1
exon_skip_745651166053171:66053229:66055068:66055147:66056425:6605647866055068:66055147ENSG00000174851.10ENST00000471387.2
exon_skip_745701166055068:66055147:66055282:66055387:66055551:6605576366055282:66055387ENSG00000174851.10ENST00000376899.4,ENST00000528575.1,ENST00000431556.2,ENST00000359461.6,ENST00000376901.4
exon_skip_745711166055068:66055147:66055282:66055387:66056425:6605647866055282:66055387ENSG00000174851.10ENST00000484814.1
exon_skip_745721166055068:66055147:66055551:66055763:66056425:6605647866055551:66055763ENSG00000174851.10ENST00000474986.2
exon_skip_745741166055282:66055387:66055551:66055763:66056425:6605647866055551:66055763ENSG00000174851.10ENST00000376899.4,ENST00000528575.1,ENST00000431556.2,ENST00000359461.6,ENST00000376901.4

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

Top

Exon skipping events with PSIs in GTEx for YIF1A

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_745381166052393:66052437:66052851:66053007:66053171:6605322966052851:66053007ENSG00000174851.10ENST00000526497.1,ENST00000471387.2,ENST00000376901.4
exon_skip_745431166052386:66052437:66053171:66053229:66055068:6605514766053171:66053229ENSG00000174851.10ENST00000359461.6
exon_skip_745531166052954:66053007:66053171:66053229:66055068:6605514766053171:66053229ENSG00000174851.10ENST00000471387.2,ENST00000376901.4
exon_skip_745621166053171:66053229:66054411:66054485:66055068:6605514766054411:66054485ENSG00000174851.10ENST00000484814.1
exon_skip_745701166055068:66055147:66055282:66055387:66055551:6605576366055282:66055387ENSG00000174851.10ENST00000359461.6,ENST00000376901.4,ENST00000431556.2,ENST00000528575.1,ENST00000376899.4
exon_skip_745711166055068:66055147:66055282:66055387:66056425:6605647866055282:66055387ENSG00000174851.10ENST00000484814.1
exon_skip_745721166055068:66055147:66055551:66055763:66056425:6605647866055551:66055763ENSG00000174851.10ENST00000474986.2
exon_skip_745741166055282:66055387:66055551:66055763:66056425:6605647866055551:66055763ENSG00000174851.10ENST00000359461.6,ENST00000376901.4,ENST00000431556.2,ENST00000528575.1,ENST00000376899.4

check button PSI values of skipped exons in GTEx.
psi gtex

* Skipped exon sequences.

Top

Open reading frame (ORF) annotation in the exon skipping event for YIF1A

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
ENST000003769016605317166053229Frame-shift
ENST000003769016605555166055763Frame-shift
ENST000003769016605285166053007In-frame
ENST000003769016605528266055387In-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
ENST000003769016605317166053229Frame-shift
ENST000003769016605555166055763Frame-shift
ENST000003769016605285166053007In-frame
ENST000003769016605528266055387In-frame

Top

Infer the effects of exon skipping event on protein functional features for YIF1A

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
ENST000003769011141293660552826605538742953381116
ENST0000037690111412936605285166053007671826162213

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
ENST000003769011141293660552826605538742953381116
ENST0000037690111412936605285166053007671826162213

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
O95070811162293ChainID=PRO_0000233275;Note=Protein YIF1A
O95070811162138Topological domainNote=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
O950701622132293ChainID=PRO_0000233275;Note=Protein YIF1A
O95070162213160174Topological domainNote=Lumenal;Ontology_term=ECO:0000305;evidence=ECO:0000305
O95070162213196203Topological domainNote=Cytoplasmic;Ontology_term=ECO:0000305;evidence=ECO:0000305
O95070162213175195TransmembraneNote=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
O95070162213204226TransmembraneNote=Helical;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
O95070811162293ChainID=PRO_0000233275;Note=Protein YIF1A
O95070811162138Topological domainNote=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
O950701622132293ChainID=PRO_0000233275;Note=Protein YIF1A
O95070162213160174Topological domainNote=Lumenal;Ontology_term=ECO:0000305;evidence=ECO:0000305
O95070162213196203Topological domainNote=Cytoplasmic;Ontology_term=ECO:0000305;evidence=ECO:0000305
O95070162213175195TransmembraneNote=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
O95070162213204226TransmembraneNote=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255


Top

SNVs in the skipped exons for YIF1A

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.
YIF1A_KIRC_exon_skip_74538_psi_boxplot.png
boxplot
YIF1A_STAD_exon_skip_74538_psi_boxplot.png
boxplot

check button - Non-synonymous mutations located in the skipped exons in TCGA.
Cancer typeSampleESIDSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
KIRCTCGA-CJ-6027-01exon_skip_74538
66052852660530076605299266052996Frame_Shift_DelCACCT-p.166_168del
KIRCTCGA-CJ-6027-01exon_skip_74538
66052852660530076605299266052996Frame_Shift_DelCACCT-p.EV166fs
COADTCGA-A6-6653-01exon_skip_74565
66055069660551476605510566055105Frame_Shift_DelG-p.R131fs
COADTCGA-AD-6889-01exon_skip_74565
66055069660551476605510566055105Frame_Shift_DelG-p.R131fs
COADTCGA-G4-6588-01exon_skip_74565
66055069660551476605510566055105Frame_Shift_DelG-p.R131fs
LIHCTCGA-DD-A39Y-01exon_skip_74565
66055069660551476605510566055105Frame_Shift_DelG-p.R131fs
PRADTCGA-EJ-7782-01exon_skip_74565
66055069660551476605510566055105Frame_Shift_DelG-p.R131fs
STADTCGA-BR-4361-01exon_skip_74565
66055069660551476605510566055105Frame_Shift_DelG-p.R131fs
STADTCGA-BR-8591-01exon_skip_74565
66055069660551476605510566055105Frame_Shift_DelG-p.R131fs
STADTCGA-CG-4442-01exon_skip_74565
66055069660551476605510566055105Frame_Shift_DelG-p.R131fs
STADTCGA-VQ-A8P2-01exon_skip_74565
66055069660551476605510566055105Frame_Shift_DelG-p.R131fs
LGGTCGA-DU-6397-02exon_skip_74571
exon_skip_74570
66055283660553876605536166055362Frame_Shift_DelTT-p.K90fs
LIHCTCGA-DD-A39Y-01exon_skip_74572
exon_skip_74574
66055552660557636605555466055554Frame_Shift_DelC-p.E81fs
KIRCTCGA-A3-3363-01exon_skip_74565
66055069660551476605510466055105Frame_Shift_Ins-Gp.A131fs
KIRCTCGA-A3-3365-01exon_skip_74565
66055069660551476605510466055105Frame_Shift_Ins-Gp.A131fs
KIRCTCGA-A3-3380-01exon_skip_74565
66055069660551476605510466055105Frame_Shift_Ins-Gp.A131fs
KIRCTCGA-A3-3382-01exon_skip_74565
66055069660551476605510466055105Frame_Shift_Ins-Gp.A131fs
READTCGA-EI-6882-01exon_skip_74565
66055069660551476605510466055105Frame_Shift_Ins-Gp.R131fs
COADTCGA-AZ-4615-01exon_skip_74571
exon_skip_74570
66055283660553876605534566055346Frame_Shift_Ins-Ap.A96fs
SARCTCGA-DX-AB32-01exon_skip_74565
66055069660551476605513066055130Nonsense_MutationGAp.Q52*
STADTCGA-VQ-A8P2-01exon_skip_74538
66052852660530076605285066052850Splice_SiteAG.
UCECTCGA-D1-A0ZS-01exon_skip_74538
66052852660530076605285166052851Splice_SiteCTe6+1
UCECTCGA-D1-A0ZS-01exon_skip_74538
66052852660530076605285166052851Splice_SiteCTp.G214_splice
COADTCGA-AA-3663-01exon_skip_74572
exon_skip_74574
66055552660557636605555066055550Splice_SiteAG.

check button - Depth of coverage in the three exons composing exon skipping event
Depth of coverage in three exonsMutation description
YIF1A_66052393_66052437_66052851_66053007_66053171_66053229_TCGA-VQ-A8P2-01Sample: TCGA-VQ-A8P2-01
Cancer type: STAD
ESID: exon_skip_74565
Skipped exon start: 66055069
Skipped exon end: 66055147
Mutation start: 66055105
Mutation end: 66055105
Mutation type: Frame_Shift_Del
Reference seq: G
Mutation seq: -
AAchange: p.R131fs
YIF1A_66052393_66052437_66052851_66053007_66053171_66053229_TCGA-VQ-A8P2-01Sample: TCGA-VQ-A8P2-01
Cancer type: STAD
ESID: exon_skip_74538
Skipped exon start: 66052852
Skipped exon end: 66053007
Mutation start: 66052850
Mutation end: 66052850
Mutation type: Splice_Site
Reference seq: A
Mutation seq: G
AAchange: .
exon_skip_102588_STAD_TCGA-VQ-A8P2-01.png
boxplot
exon_skip_122541_STAD_TCGA-VQ-A8P2-01.png
boxplot
exon_skip_128780_STAD_TCGA-VQ-A8P2-01.png
boxplot
exon_skip_143382_STAD_TCGA-VQ-A8P2-01.png
boxplot
exon_skip_143383_STAD_TCGA-VQ-A8P2-01.png
boxplot
exon_skip_148114_STAD_TCGA-VQ-A8P2-01.png
boxplot
exon_skip_287192_STAD_TCGA-VQ-A8P2-01.png
boxplot
exon_skip_291811_STAD_TCGA-VQ-A8P2-01.png
boxplot
exon_skip_320689_STAD_TCGA-VQ-A8P2-01.png
boxplot
exon_skip_320690_STAD_TCGA-VQ-A8P2-01.png
boxplot
exon_skip_328488_STAD_TCGA-VQ-A8P2-01.png
boxplot
exon_skip_356820_STAD_TCGA-VQ-A8P2-01.png
boxplot
exon_skip_356824_STAD_TCGA-VQ-A8P2-01.png
boxplot
exon_skip_375393_STAD_TCGA-VQ-A8P2-01.png
boxplot
exon_skip_381459_STAD_TCGA-VQ-A8P2-01.png
boxplot
exon_skip_3837_STAD_TCGA-VQ-A8P2-01.png
boxplot
exon_skip_387613_STAD_TCGA-VQ-A8P2-01.png
boxplot
exon_skip_431990_STAD_TCGA-VQ-A8P2-01.png
boxplot
exon_skip_440277_STAD_TCGA-VQ-A8P2-01.png
boxplot
exon_skip_443275_STAD_TCGA-VQ-A8P2-01.png
boxplot
exon_skip_448545_STAD_TCGA-VQ-A8P2-01.png
boxplot
exon_skip_470847_STAD_TCGA-VQ-A8P2-01.png
boxplot
exon_skip_481483_STAD_TCGA-VQ-A8P2-01.png
boxplot
exon_skip_5195_STAD_TCGA-VQ-A8P2-01.png
boxplot
exon_skip_5826_STAD_TCGA-VQ-A8P2-01.png
boxplot
exon_skip_74538_STAD_TCGA-VQ-A8P2-01.png
boxplot
exon_skip_91142_STAD_TCGA-VQ-A8P2-01.png
boxplot
exon_skip_91143_STAD_TCGA-VQ-A8P2-01.png
boxplot
YIF1A_66052393_66052437_66052851_66053007_66053171_66053229_TCGA-D1-A0ZS-01Sample: TCGA-D1-A0ZS-01
Cancer type: UCEC
ESID: exon_skip_74538
Skipped exon start: 66052852
Skipped exon end: 66053007
Mutation start: 66052851
Mutation end: 66052851
Mutation type: Splice_Site
Reference seq: C
Mutation seq: T
AAchange: p.G214_splice
YIF1A_66052393_66052437_66052851_66053007_66053171_66053229_TCGA-D1-A0ZS-01Sample: TCGA-D1-A0ZS-01
Cancer type: UCEC
ESID: exon_skip_74538
Skipped exon start: 66052852
Skipped exon end: 66053007
Mutation start: 66052851
Mutation end: 66052851
Mutation type: Splice_Site
Reference seq: C
Mutation seq: T
AAchange: e6+1
exon_skip_435167_UCEC_TCGA-D1-A0ZS-01.png
boxplot
exon_skip_74538_UCEC_TCGA-D1-A0ZS-01.png
boxplot
exon_skip_94844_UCEC_TCGA-D1-A0ZS-01.png
boxplot
YIF1A_66052393_66052437_66052851_66053007_66053171_66053229_TCGA-CJ-6027-01Sample: TCGA-CJ-6027-01
Cancer type: KIRC
ESID: exon_skip_74538
Skipped exon start: 66052852
Skipped exon end: 66053007
Mutation start: 66052992
Mutation end: 66052996
Mutation type: Frame_Shift_Del
Reference seq: CACCT
Mutation seq: -
AAchange: p.166_168del
YIF1A_66052393_66052437_66052851_66053007_66053171_66053229_TCGA-CJ-6027-01Sample: TCGA-CJ-6027-01
Cancer type: KIRC
ESID: exon_skip_74538
Skipped exon start: 66052852
Skipped exon end: 66053007
Mutation start: 66052992
Mutation end: 66052996
Mutation type: Frame_Shift_Del
Reference seq: CACCT
Mutation seq: -
AAchange: p.EV166fs
exon_skip_324022_KIRC_TCGA-CJ-6027-01.png
boxplot
exon_skip_324024_KIRC_TCGA-CJ-6027-01.png
boxplot
exon_skip_74538_KIRC_TCGA-CJ-6027-01.png
boxplot

check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
DV90_LUNG66055069660551476605510566055105Frame_Shift_DelG-p.R131fs
HCT116_LARGE_INTESTINE66055069660551476605510566055105Frame_Shift_DelG-p.R131fs
TGBC11TKB_STOMACH66055069660551476605510566055105Frame_Shift_DelG-p.R131fs
SNGM_ENDOMETRIUM66055069660551476605510466055105Frame_Shift_Ins-Gp.R131fs
REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE66055069660551476605510466055105Frame_Shift_Ins-Gp.R131fs
SNU1040_LARGE_INTESTINE66055069660551476605510466055105Frame_Shift_Ins-GGp.R131fs
IM95_STOMACH66055283660553876605534566055346Frame_Shift_Ins-Ap.A96fs
CW2_LARGE_INTESTINE66055069660551476605510466055105In_Frame_Ins-GGGp.130_131insP
CTB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE66053172660532296605319166053191Missense_MutationCTp.A156T
RMGI_OVARY66053172660532296605322366053223Missense_MutationGAp.A145V
M059J_CENTRAL_NERVOUS_SYSTEM66055069660551476605511066055110Missense_MutationGAp.P129L
M059K_CENTRAL_NERVOUS_SYSTEM66055069660551476605511066055110Missense_MutationGAp.P129L
ISHIKAWAHERAKLIO02ER_ENDOMETRIUM66055283660553876605534466055344Missense_MutationGAp.A96V
HEC251_ENDOMETRIUM66055283660553876605535366055353Missense_MutationTGp.Y93S
MYLA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE66055283660553876605538066055380Missense_MutationCAp.R84L
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE66055552660557636605556466055564Missense_MutationCTp.M77I
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE66055552660557636605568366055683Missense_MutationCTp.G38R
SKOV3_OVARY66055552660557636605568366055683Missense_MutationCTp.G38R
MRKNU1_BREAST66055552660557636605575266055752Missense_MutationTCp.R15G
SW1573_LUNG66055552660557636605575266055752Missense_MutationTCp.R15G
HCC2450_LUNG66055552660557636605575766055757Missense_MutationTAp.K13M
KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE66055552660557636605557266055572Nonsense_MutationTAp.K75*
HEP3B217_LIVER66055283660553876605528466055284Splice_SiteTAp.Q116L

Top

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for YIF1A

check button sQTL information located at the skipped exons.
Exon skip IDChromosomeThree exonsSkippped exonENSTCancer typeSNP idLocationDNA change (ref/var)P-value

Top

Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for YIF1A


Top

Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for YIF1A


Top

RelatedDrugs for YIF1A

check button Approved drugs targeting this gene.
(DrugBank Version 5.1.0 2018-04-02)
GeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

Top

RelatedDiseases for YIF1A

check button Diseases associated with this gene.
(DisGeNet 4.0)
GeneDisease IDDisease name# pubmedsSource
YIF1AC0023903Liver neoplasms1CTD_human
YIF1AC0032927Precancerous Conditions1CTD_human