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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 ZFYVE19

check button Gene summary
Gene informationGene symbol

ZFYVE19

Gene ID

84936

Gene namezinc finger FYVE-type containing 19
SynonymsANCHR|MPFYVE
Cytomap

15q15.1

Type of geneprotein-coding
Descriptionabscission/NoCut checkpoint regulatorMLL partner containing FYVE domainzinc finger FYVE domain-containing protein 19zinc finger, FYVE domain containing 19
Modification date20180523
UniProtAcc

Q96K21

ContextPubMed: ZFYVE19 [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 ZFYVE19 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 ZFYVE19

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 ZFYVE19

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_1209541541099989:41100066:41100241:41100273:41101316:4110143841100241:41100273ENSG00000166140.13ENST00000568062.1
exon_skip_1209551541099989:41100066:41101316:41101438:41101605:4110165641101316:41101438ENSG00000166140.13ENST00000355341.4,ENST00000566407.1,ENST00000299173.10,ENST00000570108.1
exon_skip_1209581541099989:41100066:41101353:41101438:41101605:4110165641101353:41101438ENSG00000166140.13ENST00000567756.1
exon_skip_1209611541099989:41100066:41101605:41101656:41102049:4110216841101605:41101656ENSG00000166140.13ENST00000569057.1
exon_skip_1209631541101353:41101438:41101605:41101656:41102049:4110216841101605:41101656ENSG00000166140.13ENST00000355341.4,ENST00000566767.1,ENST00000567756.1,ENST00000566407.1,ENST00000299173.10,ENST00000564258.1,ENST00000568062.1,ENST00000570108.1,ENST00000336455.5,ENST00000561768.1
exon_skip_1209721541101605:41101656:41102049:41102414:41102846:4110288141102049:41102414ENSG00000166140.13ENST00000560078.1
exon_skip_1209741541102049:41102168:41102268:41102414:41102846:4110288141102268:41102414ENSG00000166140.13ENST00000355341.4,ENST00000567756.1,ENST00000566407.1,ENST00000569057.1,ENST00000299173.10,ENST00000564258.1,ENST00000561617.1,ENST00000570108.1,ENST00000336455.5,ENST00000561768.1
exon_skip_1209791541102846:41102955:41104896:41105100:41105535:4110561541104896:41105100ENSG00000166140.13ENST00000355341.4,ENST00000569057.1,ENST00000564258.1,ENST00000570108.1,ENST00000336455.5,ENST00000561768.1
exon_skip_1209921541105535:41105615:41105910:41106009:41106140:4110626241105910:41106009ENSG00000166140.13ENST00000355341.4,ENST00000569057.1,ENST00000299173.10,ENST00000564258.1,ENST00000570108.1,ENST00000336455.5,ENST00000561768.1
exon_skip_1209961541105910:41106009:41106140:41106268:41106345:4110652041106140:41106268ENSG00000166140.13ENST00000355341.4,ENST00000299173.10,ENST00000564258.1,ENST00000570108.1,ENST00000336455.5,ENST00000561768.1,ENST00000563497.1

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

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Exon skipping events with PSIs in GTEx for ZFYVE19

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_1209541541099989:41100066:41100241:41100273:41101316:4110143841100241:41100273ENSG00000166140.13ENST00000568062.1
exon_skip_1209551541099989:41100066:41101316:41101438:41101605:4110165641101316:41101438ENSG00000166140.13ENST00000570108.1,ENST00000355341.4,ENST00000299173.10,ENST00000566407.1
exon_skip_1209561541099989:41100066:41101316:41101438:41102049:4110216841101316:41101438ENSG00000166140.13ENST00000561617.1
exon_skip_1209581541099989:41100066:41101353:41101438:41101605:4110165641101353:41101438ENSG00000166140.13ENST00000567756.1
exon_skip_1209611541099989:41100066:41101605:41101656:41102049:4110216841101605:41101656ENSG00000166140.13ENST00000569057.1
exon_skip_1209631541101353:41101438:41101605:41101656:41102049:4110216841101605:41101656ENSG00000166140.13ENST00000570108.1,ENST00000564258.1,ENST00000355341.4,ENST00000336455.5,ENST00000299173.10,ENST00000568062.1,ENST00000566407.1,ENST00000567756.1,ENST00000561768.1,ENST00000566767.1
exon_skip_1209721541101605:41101656:41102049:41102414:41102846:4110288141102049:41102414ENSG00000166140.13ENST00000560078.1
exon_skip_1209741541102049:41102168:41102268:41102414:41102846:4110288141102268:41102414ENSG00000166140.13ENST00000570108.1,ENST00000564258.1,ENST00000355341.4,ENST00000336455.5,ENST00000299173.10,ENST00000566407.1,ENST00000567756.1,ENST00000561617.1,ENST00000569057.1,ENST00000561768.1
exon_skip_1209791541102846:41102955:41104896:41105100:41105535:4110561541104896:41105100ENSG00000166140.13ENST00000570108.1,ENST00000564258.1,ENST00000355341.4,ENST00000336455.5,ENST00000569057.1,ENST00000561768.1
exon_skip_1209921541105535:41105615:41105910:41106009:41106140:4110626241105910:41106009ENSG00000166140.13ENST00000570108.1,ENST00000564258.1,ENST00000355341.4,ENST00000336455.5,ENST00000299173.10,ENST00000569057.1,ENST00000561768.1
exon_skip_1209961541105910:41106009:41106140:41106268:41106345:4110652041106140:41106268ENSG00000166140.13ENST00000570108.1,ENST00000564258.1,ENST00000355341.4,ENST00000336455.5,ENST00000299173.10,ENST00000561768.1,ENST00000563497.1

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 ZFYVE19

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
ENST000003553414110131641101438Frame-shift
ENST000003553414110226841102414Frame-shift
ENST000003553414110614041106268Frame-shift
ENST000003553414110160541101656In-frame
ENST000003553414110489641105100In-frame
ENST000003553414110591041106009In-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
ENST000003553414110131641101438Frame-shift
ENST000003553414110226841102414Frame-shift
ENST000003553414110614041106268Frame-shift
ENST000003553414110160541101656In-frame
ENST000003553414110489641105100In-frame
ENST000003553414110591041106009In-frame

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Infer the effects of exon skipping event on protein functional features for ZFYVE19

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
ENST0000035534122774714110160541101656903953134150
ENST000003553412277471411048964110510013281531275343
ENST000003553412277471411059104110600916121710370403

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
ENST0000035534122774714110160541101656903953134150
ENST000003553412277471411048964110510013281531275343
ENST000003553412277471411059104110600916121710370403

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
Q96K211341501175Alternative sequenceID=VSP_046008;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q96K211341501471ChainID=PRO_0000098718;Note=Abscission/NoCut checkpoint regulator
Q96K21134150144144Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163
Q96K21134150145146SiteNote=Breakpoint for translocation to form KMT2A/MLL1-ZFYVE19
Q96K21275343276343Alternative sequenceID=VSP_013792;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q96K212753431471ChainID=PRO_0000098718;Note=Abscission/NoCut checkpoint regulator
Q96K21275343311375Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
Q96K21275343293293Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163
Q96K21275343326339MotifNote=MIM1-B
Q96K213704031471ChainID=PRO_0000098718;Note=Abscission/NoCut checkpoint regulator
Q96K21370403311375Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
Q96K21370403376376Natural variantID=VAR_060474;Note=S->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:14702039,ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs690347,PMID:14702039,PMID:15489334
Q96K21370403398398Natural variantID=VAR_060475;Note=R->C;Dbxref=dbSNP:rs72735636


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
Q96K211341501175Alternative sequenceID=VSP_046008;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q96K211341501471ChainID=PRO_0000098718;Note=Abscission/NoCut checkpoint regulator
Q96K21134150144144Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163
Q96K21134150145146SiteNote=Breakpoint for translocation to form KMT2A/MLL1-ZFYVE19
Q96K21275343276343Alternative sequenceID=VSP_013792;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q96K212753431471ChainID=PRO_0000098718;Note=Abscission/NoCut checkpoint regulator
Q96K21275343311375Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
Q96K21275343293293Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163
Q96K21275343326339MotifNote=MIM1-B
Q96K213704031471ChainID=PRO_0000098718;Note=Abscission/NoCut checkpoint regulator
Q96K21370403311375Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
Q96K21370403376376Natural variantID=VAR_060474;Note=S->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:14702039,ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs690347,PMID:14702039,PMID:15489334
Q96K21370403398398Natural variantID=VAR_060475;Note=R->C;Dbxref=dbSNP:rs72735636


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SNVs in the skipped exons for ZFYVE19

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
BLCATCGA-XF-A9SZ-01exon_skip_120955
exon_skip_120958
41101317411014384110138941101389Frame_Shift_DelG-p.G118fs
BLCATCGA-XF-A9SZ-01exon_skip_120955
exon_skip_120958
41101354411014384110138941101389Frame_Shift_DelG-p.G118fs
LIHCTCGA-DD-A3A0-01exon_skip_120955
exon_skip_120958
41101317411014384110138941101389Frame_Shift_DelG-p.G118fs
LIHCTCGA-DD-A3A0-01exon_skip_120955
exon_skip_120958
41101354411014384110138941101389Frame_Shift_DelG-p.G118fs
STADTCGA-CD-A4MG-01exon_skip_120979
41104897411051004110509441105095Frame_Shift_DelGA-p.P341fs
ACCTCGA-OR-A5LJ-01exon_skip_120996
41106141411062684110618441106185Frame_Shift_Ins-Cp.P418fs

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
D263MG_CENTRAL_NERVOUS_SYSTEM41102269411024144110227541102276Frame_Shift_Ins-Cp.VP193fs
D263MG_CENTRAL_NERVOUS_SYSTEM41102050411024144110227541102276Frame_Shift_Ins-Cp.VP193fs
BICR18_UPPER_AERODIGESTIVE_TRACT41101606411016564110161741101617Missense_MutationCAp.A138D
BICR18_UPPER_AERODIGESTIVE_TRACT41101606411016564110162041101620Missense_MutationAGp.N139S
22RV1_PROSTATE41102050411024144110205241102052Missense_MutationGCp.R152P
BICR18_UPPER_AERODIGESTIVE_TRACT41102050411024144110207541102075Missense_MutationCAp.Q160K
BICR18_UPPER_AERODIGESTIVE_TRACT41102050411024144110208141102081Missense_MutationCTp.P162S
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE41102050411024144110210041102100Missense_MutationACp.Q168P
MELHO_SKIN41102050411024144110210641102106Missense_MutationTCp.L170P
KYSE50_OESOPHAGUS41102050411024144110214741102147Missense_MutationCTp.L184F
SW684_SOFT_TISSUE41102269411024144110235041102350Missense_MutationAGp.Q218R
SW684_SOFT_TISSUE41102050411024144110235041102350Missense_MutationAGp.Q218R
SNU349_KIDNEY41102269411024144110240841102409Missense_MutationCCAAp.Q238K
SNU349_KIDNEY41102050411024144110240841102409Missense_MutationCCAAp.Q238K
SNU349_KIDNEY41102269411024144110240941102409Missense_MutationCAp.Q238K
SNU349_KIDNEY41102050411024144110240941102409Missense_MutationCAp.Q238K
HEC1B_ENDOMETRIUM41104897411051004110490041104900Missense_MutationCTp.A277V
GP2D_LARGE_INTESTINE41104897411051004110494441104944Missense_MutationAGp.N292D
SJSA1_BONE41104897411051004110497441104974Missense_MutationGCp.E302Q
NCIH1651_LUNG41104897411051004110498541104985Missense_MutationGCp.K305N
SNU1040_LARGE_INTESTINE41104897411051004110499941104999Missense_MutationCAp.A310D
MOLT16_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE41105911411060094110599341105993Missense_MutationGAp.R398H
TE4_OESOPHAGUS41105911411060094110599941105999Missense_MutationCTp.A400V
PCI4B_UPPER_AERODIGESTIVE_TRACT41105911411060094110600741106007Missense_MutationGCp.E403Q
NTERA2CLD1_TESTIS41106141411062684110621941106219Missense_MutationCGp.L430V
VMRCLCD_LUNG41106141411062684110625641106256Missense_MutationCTp.A442V
SNU1040_LARGE_INTESTINE41106141411062684110625841106258Missense_MutationCTp.R443C
KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE41102269411024144110240941102409Nonsense_MutationCTp.Q238*
KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE41102050411024144110240941102409Nonsense_MutationCTp.Q238*
CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE41104897411051004110503741105037Nonsense_MutationCTp.Q323*
MFE280_ENDOMETRIUM41104897411051004110506441105064Nonsense_MutationCTp.R332*

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ZFYVE19

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 ZFYVE19


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ZFYVE19


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RelatedDrugs for ZFYVE19

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 ZFYVE19

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