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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 ZFYVE16

check button Gene summary
Gene informationGene symbol

ZFYVE16

Gene ID

9765

Gene namezinc finger FYVE-type containing 16
SynonymsPPP1R69
Cytomap

5q14.1

Type of geneprotein-coding
Descriptionzinc finger FYVE domain-containing protein 16endosome-associated FYVE-domain proteinprotein phosphatase 1, regulatory subunit 69zinc finger, FYVE domain containing 16
Modification date20180523
UniProtAcc

Q7Z3T8

ContextPubMed: ZFYVE16 [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 ZFYVE16 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 ZFYVE16

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 ZFYVE16

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_436117579703933:79703972:79707464:79707592:79729927:7973003679707464:79707592ENSG00000039319.12ENST00000510158.1
exon_skip_436120579703933:79703972:79723310:79723364:79729927:7973003679723310:79723364ENSG00000039319.12ENST00000505560.1
exon_skip_436121579703933:79703972:79729927:79730036:79732574:7973297879729927:79730036ENSG00000039319.12ENST00000510995.1,ENST00000512558.1
exon_skip_436123579729927:79730036:79731580:79731673:79732574:7973297879731580:79731673ENSG00000039319.12ENST00000509562.1
exon_skip_436125579732574:79734826:79735754:79735851:79738941:7973910379735754:79735851ENSG00000039319.12ENST00000338008.5,ENST00000512558.1,ENST00000505560.1,ENST00000510158.1
exon_skip_436130579739021:79739103:79739612:79739739:79741081:7974122479739612:79739739ENSG00000039319.12ENST00000509558.1
exon_skip_436131579741081:79741224:79743844:79744223:79745409:7974553279743844:79744223ENSG00000039319.12ENST00000338008.5,ENST00000512558.1,ENST00000505560.1,ENST00000510158.1
exon_skip_436132579741081:79741224:79744101:79744223:79745409:7974553279744101:79744223ENSG00000039319.12ENST00000511829.1
exon_skip_436135579751510:79751593:79752279:79752384:79752763:7975291179752279:79752384ENSG00000039319.12ENST00000338008.5,ENST00000511829.1,ENST00000505560.1,ENST00000510158.1
exon_skip_436137579752763:79752911:79755232:79755313:79768579:7976874279755232:79755313ENSG00000039319.12ENST00000338008.5,ENST00000511829.1,ENST00000505560.1,ENST00000512907.1,ENST00000510158.1
exon_skip_436140579755257:79755313:79768579:79768742:79769572:7976967879768579:79768742ENSG00000039319.12ENST00000338008.5,ENST00000511829.1,ENST00000505560.1,ENST00000512907.1,ENST00000510158.1
exon_skip_436141579769572:79769678:79770481:79770649:79773037:7977313079770481:79770649ENSG00000039319.12ENST00000338008.5,ENST00000511829.1,ENST00000513789.1,ENST00000505560.1,ENST00000512907.1,ENST00000510158.1

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

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Exon skipping events with PSIs in GTEx for ZFYVE16

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_436117579703933:79703972:79707464:79707592:79729927:7973003679707464:79707592ENSG00000039319.12ENST00000510158.1
exon_skip_436120579703933:79703972:79723310:79723364:79729927:7973003679723310:79723364ENSG00000039319.12ENST00000505560.1
exon_skip_436121579703933:79703972:79729927:79730036:79732574:7973297879729927:79730036ENSG00000039319.12ENST00000512558.1,ENST00000510995.1
exon_skip_436123579729927:79730036:79731580:79731673:79732574:7973297879731580:79731673ENSG00000039319.12ENST00000509562.1
exon_skip_436125579732574:79734826:79735754:79735851:79738941:7973910379735754:79735851ENSG00000039319.12ENST00000338008.5,ENST00000510158.1,ENST00000505560.1,ENST00000512558.1
exon_skip_436130579739021:79739103:79739612:79739739:79741081:7974122479739612:79739739ENSG00000039319.12ENST00000509558.1
exon_skip_436131579741081:79741224:79743844:79744223:79745409:7974553279743844:79744223ENSG00000039319.12ENST00000338008.5,ENST00000510158.1,ENST00000505560.1,ENST00000512558.1
exon_skip_436132579741081:79741224:79744101:79744223:79745409:7974553279744101:79744223ENSG00000039319.12ENST00000511829.1
exon_skip_436135579751510:79751593:79752279:79752384:79752763:7975291179752279:79752384ENSG00000039319.12ENST00000338008.5,ENST00000510158.1,ENST00000505560.1,ENST00000511829.1
exon_skip_436137579752763:79752911:79755232:79755313:79768579:7976874279755232:79755313ENSG00000039319.12ENST00000338008.5,ENST00000510158.1,ENST00000505560.1,ENST00000511829.1,ENST00000512907.1
exon_skip_436140579755257:79755313:79768579:79768742:79769572:7976967879768579:79768742ENSG00000039319.12ENST00000338008.5,ENST00000510158.1,ENST00000505560.1,ENST00000511829.1,ENST00000512907.1
exon_skip_436141579769572:79769678:79770481:79770649:79773037:7977313079770481:79770649ENSG00000039319.12ENST00000338008.5,ENST00000510158.1,ENST00000505560.1,ENST00000511829.1,ENST00000512907.1,ENST00000513789.1

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 ZFYVE16

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
ENST0000051015879707464797075925UTR-5UTR
ENST0000050556079723310797233645UTR-5UTR
ENST000003380087973575479735851Frame-shift
ENST000005055607973575479735851Frame-shift
ENST000005101587973575479735851Frame-shift
ENST000003380087974384479744223Frame-shift
ENST000005055607974384479744223Frame-shift
ENST000005101587974384479744223Frame-shift
ENST000003380087976857979768742Frame-shift
ENST000005055607976857979768742Frame-shift
ENST000005101587976857979768742Frame-shift
ENST000003380087975227979752384In-frame
ENST000005055607975227979752384In-frame
ENST000005101587975227979752384In-frame
ENST000003380087975523279755313In-frame
ENST000005055607975523279755313In-frame
ENST000005101587975523279755313In-frame
ENST000003380087977048179770649In-frame
ENST000005055607977048179770649In-frame
ENST000005101587977048179770649In-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
ENST0000051015879707464797075925UTR-5UTR
ENST0000050556079723310797233645UTR-5UTR
ENST000003380087973575479735851Frame-shift
ENST000005055607973575479735851Frame-shift
ENST000005101587973575479735851Frame-shift
ENST000003380087974384479744223Frame-shift
ENST000005055607974384479744223Frame-shift
ENST000005101587974384479744223Frame-shift
ENST000003380087976857979768742Frame-shift
ENST000005055607976857979768742Frame-shift
ENST000005101587976857979768742Frame-shift
ENST000003380087975227979752384In-frame
ENST000005055607975227979752384In-frame
ENST000005101587975227979752384In-frame
ENST000003380087975523279755313In-frame
ENST000005055607975523279755313In-frame
ENST000005101587975523279755313In-frame
ENST000003380087977048179770649In-frame
ENST000005055607977048179770649In-frame
ENST000005101587977048179770649In-frame

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Infer the effects of exon skipping event on protein functional features for ZFYVE16

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
ENST000003380086790153979752279797523843871397512301265
ENST000005055606616153979752279797523843912401612301265
ENST000005101586697153979752279797523843988409212301265
ENST000003380086790153979755232797553134124420413141341
ENST000005055606616153979755232797553134165424513141341
ENST000005101586697153979755232797553134241432113141341
ENST000003380086790153979770481797706494474464114311487
ENST000005055606616153979770481797706494515468214311487
ENST000005101586697153979770481797706494591475814311487

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
ENST000003380086790153979752279797523843871397512301265
ENST000005055606616153979752279797523843912401612301265
ENST000005101586697153979752279797523843988409212301265
ENST000003380086790153979755232797553134124420413141341
ENST000005055606616153979755232797553134165424513141341
ENST000005101586697153979755232797553134241432113141341
ENST000003380086790153979770481797706494474464114311487
ENST000005055606616153979770481797706494515468214311487
ENST000005101586697153979770481797706494591475814311487

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
Q7Z3T8123012658101539Alternative sequenceID=VSP_011020;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q7Z3T8123012658101539Alternative sequenceID=VSP_011020;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q7Z3T8123012658101539Alternative sequenceID=VSP_011020;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q7Z3T81230126511539ChainID=PRO_0000098716;Note=Zinc finger FYVE domain-containing protein 16
Q7Z3T81230126511539ChainID=PRO_0000098716;Note=Zinc finger FYVE domain-containing protein 16
Q7Z3T81230126511539ChainID=PRO_0000098716;Note=Zinc finger FYVE domain-containing protein 16
Q7Z3T8131413418101539Alternative sequenceID=VSP_011020;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q7Z3T8131413418101539Alternative sequenceID=VSP_011020;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q7Z3T8131413418101539Alternative sequenceID=VSP_011020;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q7Z3T81314134111539ChainID=PRO_0000098716;Note=Zinc finger FYVE domain-containing protein 16
Q7Z3T81314134111539ChainID=PRO_0000098716;Note=Zinc finger FYVE domain-containing protein 16
Q7Z3T81314134111539ChainID=PRO_0000098716;Note=Zinc finger FYVE domain-containing protein 16
Q7Z3T8143114878101539Alternative sequenceID=VSP_011020;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q7Z3T8143114878101539Alternative sequenceID=VSP_011020;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q7Z3T8143114878101539Alternative sequenceID=VSP_011020;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q7Z3T81431148711539ChainID=PRO_0000098716;Note=Zinc finger FYVE domain-containing protein 16
Q7Z3T81431148711539ChainID=PRO_0000098716;Note=Zinc finger FYVE domain-containing protein 16
Q7Z3T81431148711539ChainID=PRO_0000098716;Note=Zinc finger FYVE domain-containing protein 16


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
Q7Z3T8123012658101539Alternative sequenceID=VSP_011020;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q7Z3T8123012658101539Alternative sequenceID=VSP_011020;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q7Z3T8123012658101539Alternative sequenceID=VSP_011020;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q7Z3T81230126511539ChainID=PRO_0000098716;Note=Zinc finger FYVE domain-containing protein 16
Q7Z3T81230126511539ChainID=PRO_0000098716;Note=Zinc finger FYVE domain-containing protein 16
Q7Z3T81230126511539ChainID=PRO_0000098716;Note=Zinc finger FYVE domain-containing protein 16
Q7Z3T8131413418101539Alternative sequenceID=VSP_011020;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q7Z3T8131413418101539Alternative sequenceID=VSP_011020;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q7Z3T8131413418101539Alternative sequenceID=VSP_011020;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q7Z3T81314134111539ChainID=PRO_0000098716;Note=Zinc finger FYVE domain-containing protein 16
Q7Z3T81314134111539ChainID=PRO_0000098716;Note=Zinc finger FYVE domain-containing protein 16
Q7Z3T81314134111539ChainID=PRO_0000098716;Note=Zinc finger FYVE domain-containing protein 16
Q7Z3T8143114878101539Alternative sequenceID=VSP_011020;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q7Z3T8143114878101539Alternative sequenceID=VSP_011020;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q7Z3T8143114878101539Alternative sequenceID=VSP_011020;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q7Z3T81431148711539ChainID=PRO_0000098716;Note=Zinc finger FYVE domain-containing protein 16
Q7Z3T81431148711539ChainID=PRO_0000098716;Note=Zinc finger FYVE domain-containing protein 16
Q7Z3T81431148711539ChainID=PRO_0000098716;Note=Zinc finger FYVE domain-containing protein 16


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SNVs in the skipped exons for ZFYVE16

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-G3-A3CJ-01exon_skip_436121
79729928797300367973002079730020Frame_Shift_DelT-p.D18fs
LIHCTCGA-G3-A3CJ-01exon_skip_436125
79735755797358517973580479735804Frame_Shift_DelA-p.E791fs
BRCATCGA-E2-A14W-01exon_skip_436131
79743845797442237974396179743961Frame_Shift_DelG-p.E948fs
LIHCTCGA-DD-A1EG-01exon_skip_436131
79743845797442237974401379744013Frame_Shift_DelT-p.F965fs
COADTCGA-D5-6540-01exon_skip_436137
79755233797553137975527079755270Frame_Shift_DelA-p.L1327fs
STADTCGA-B7-5816-01exon_skip_436125
79735755797358517973583279735832Nonsense_MutationCAp.C800X
PAADTCGA-IB-7651-01exon_skip_436131
79743845797442237974388479743884Nonsense_MutationGTp.E922*
BLCATCGA-XF-A8HI-01exon_skip_436131
79743845797442237974393279743932Nonsense_MutationCTp.Q938*
BLCATCGA-ZF-A9RF-01exon_skip_436140
79768580797687427976864279768642Nonsense_MutationCTp.Q1363*
UCECTCGA-D1-A17Q-01exon_skip_436140
79768580797687427976869379768693Nonsense_MutationGTp.E1380*

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
HEC6_ENDOMETRIUM79752280797523847975234579752345Frame_Shift_DelA-p.G1252fs
SNUC4_LARGE_INTESTINE79752280797523847975234579752345Frame_Shift_DelA-p.G1252fs
IM95_STOMACH79755233797553137975527079755270Frame_Shift_DelA-p.L1327fs
IGROV1_OVARY79743845797442237974385779743857Missense_MutationGAp.V913M
SNU840_OVARY79743845797442237974387379743873Missense_MutationCGp.S918C
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE79743845797442237974388479743884Missense_MutationGAp.E922K
IGR1_SKIN79743845797442237974393879743938Missense_MutationCTp.P940S
HS766T_PANCREAS79743845797442237974400179744001Missense_MutationAGp.T961A
KMS18_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE79743845797442237974408679744086Missense_MutationAGp.N989S
JHUEM7_ENDOMETRIUM79743845797442237974408979744089Missense_MutationTCp.L990S
HEC108_ENDOMETRIUM79744102797442237974417679744176Missense_MutationATp.E1019V
HEC108_ENDOMETRIUM79743845797442237974417679744176Missense_MutationATp.E1019V
SNU1040_LARGE_INTESTINE79744102797442237974417779744177Missense_MutationGTp.E1019D
SNU1040_LARGE_INTESTINE79743845797442237974417779744177Missense_MutationGTp.E1019D
HS852T_SKIN79752280797523847975233179752331Missense_MutationCAp.H1248N
IALM_LUNG79752280797523847975233179752331Missense_MutationCAp.H1248N
NCIH1048_LUNG79752280797523847975236879752368Missense_MutationGAp.R1260Q
BICR18_UPPER_AERODIGESTIVE_TRACT79768580797687427976861579768615Missense_MutationAGp.N1354D
BICR18_UPPER_AERODIGESTIVE_TRACT79768580797687427976861779768617Missense_MutationTGp.N1354K
SKMEL30_SKIN79768580797687427976862479768624Missense_MutationCTp.R1357W
REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE79768580797687427976869979768699Missense_MutationGAp.V1382M
LU165_LUNG79770482797706497977055479770554Missense_MutationAGp.M1456V
RERFLCKJ_LUNG79770482797706497977058479770584Missense_MutationCGp.L1466V
TGW_AUTONOMIC_GANGLIA79770482797706497977058479770584Missense_MutationCGp.L1466V
FTC238_THYROID79770482797706497977060979770609Missense_MutationTCp.M1474T
T47D_BREAST79770482797706497977062979770629Missense_MutationGAp.V1481I
CHLA266_SOFT_TISSUE79743845797442237974392379743923Nonsense_MutationGTp.E935*
HEYA8_OVARY79768580797687427976863679768636Nonsense_MutationCTp.R1361*
HEY_OVARY79768580797687427976863679768636Nonsense_MutationCTp.R1361*

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ZFYVE16

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 ZFYVE16


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ZFYVE16


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RelatedDrugs for ZFYVE16

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 ZFYVE16

check button Diseases associated with this gene.
(DisGeNet 4.0)
GeneDisease IDDisease name# pubmedsSource
ZFYVE16C0023893Liver Cirrhosis, Experimental1CTD_human