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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 PHF14

check button Gene summary
Gene informationGene symbol

PHF14

Gene ID

9678

Gene namePHD finger protein 14
Synonyms-
Cytomap

7p21.3

Type of geneprotein-coding
DescriptionPHD finger protein 14
Modification date20180519
UniProtAcc

O94880

ContextPubMed: PHF14 [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 PHF14 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 PHF14

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 PHF14

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_464468711014461:11014572:11021998:11022786:11030329:1103047411021998:11022786ENSG00000106443.10ENST00000403050.3,ENST00000490957.1
exon_skip_464471711030329:11030474:11053373:11053533:11062494:1106260611053373:11053533ENSG00000106443.10ENST00000476009.1,ENST00000445996.2,ENST00000403050.3,ENST00000423760.2,ENST00000521747.1,ENST00000490957.1
exon_skip_464474711053447:11053533:11062494:11062606:11068307:1106838711062494:11062606ENSG00000106443.10ENST00000476009.1,ENST00000445996.2,ENST00000403050.3,ENST00000423760.2,ENST00000521747.1,ENST00000490957.1
exon_skip_464475711062494:11062606:11068307:11068445:11075266:1107541311068307:11068445ENSG00000106443.10ENST00000445996.2,ENST00000403050.3,ENST00000423760.2,ENST00000521747.1,ENST00000490957.1
exon_skip_464476711068307:11068445:11075266:11075413:11076044:1107631511075266:11075413ENSG00000106443.10ENST00000445996.2,ENST00000403050.3,ENST00000423760.2,ENST00000521747.1,ENST00000490957.1
exon_skip_464477711076611:11076718:11078386:11078482:11080298:1108040211078386:11078482ENSG00000106443.10ENST00000445996.2,ENST00000403050.3,ENST00000423760.2,ENST00000521747.1,ENST00000490957.1
exon_skip_464478711091242:11091407:11101417:11101468:11101590:1110171211101417:11101468ENSG00000106443.10ENST00000481418.1,ENST00000445996.2,ENST00000403050.3,ENST00000423760.2,ENST00000521747.1,ENST00000490957.1
exon_skip_464487711101590:11101712:11150976:11151094:11209042:1120911711150976:11151094ENSG00000106443.10ENST00000470665.1,ENST00000445996.2,ENST00000423760.2

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

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Exon skipping events with PSIs in GTEx for PHF14

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_464468711014461:11014572:11021998:11022786:11030329:1103047411021998:11022786ENSG00000106443.10ENST00000403050.3,ENST00000490957.1
exon_skip_464471711030329:11030474:11053373:11053533:11062494:1106260611053373:11053533ENSG00000106443.10ENST00000521747.1,ENST00000403050.3,ENST00000445996.2,ENST00000476009.1,ENST00000423760.2,ENST00000490957.1
exon_skip_464474711053447:11053533:11062494:11062606:11068307:1106838711062494:11062606ENSG00000106443.10ENST00000521747.1,ENST00000403050.3,ENST00000445996.2,ENST00000476009.1,ENST00000423760.2,ENST00000490957.1
exon_skip_464475711062494:11062606:11068307:11068445:11075266:1107541311068307:11068445ENSG00000106443.10ENST00000521747.1,ENST00000403050.3,ENST00000445996.2,ENST00000423760.2,ENST00000490957.1
exon_skip_464476711068307:11068445:11075266:11075413:11076044:1107631511075266:11075413ENSG00000106443.10ENST00000521747.1,ENST00000403050.3,ENST00000445996.2,ENST00000423760.2,ENST00000490957.1
exon_skip_464477711076611:11076718:11078386:11078482:11080298:1108040211078386:11078482ENSG00000106443.10ENST00000521747.1,ENST00000403050.3,ENST00000445996.2,ENST00000423760.2,ENST00000490957.1
exon_skip_464478711091242:11091407:11101417:11101468:11101590:1110171211101417:11101468ENSG00000106443.10ENST00000521747.1,ENST00000403050.3,ENST00000445996.2,ENST00000423760.2,ENST00000490957.1,ENST00000481418.1
exon_skip_464487711101590:11101712:11150976:11151094:11209042:1120911711150976:11151094ENSG00000106443.10ENST00000445996.2,ENST00000423760.2,ENST00000470665.1

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 PHF14

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
ENST000004030501102199811022786Frame-shift
ENST000004030501105337311053533Frame-shift
ENST000004030501106249411062606Frame-shift
ENST000004030501106830711068445In-frame
ENST000004030501107526611075413In-frame
ENST000004030501107838611078482In-frame
ENST000004030501110141711101468In-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
ENST000004030501102199811022786Frame-shift
ENST000004030501105337311053533Frame-shift
ENST000004030501106249411062606Frame-shift
ENST000004030501106830711068445In-frame
ENST000004030501107526611075413In-frame
ENST000004030501107838611078482In-frame
ENST000004030501110141711101468In-frame

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Infer the effects of exon skipping event on protein functional features for PHF14

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
ENST000004030504293888110683071106844517701907439485
ENST000004030504293888110752661107541319082054485534
ENST000004030504293888110783861107848224332528660692
ENST000004030504293888111014171110146829342984827844

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
ENST000004030504293888110683071106844517701907439485
ENST000004030504293888110752661107541319082054485534
ENST000004030504293888110783861107848224332528660692
ENST000004030504293888111014171110146829342984827844

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
O948804394851888ChainID=PRO_0000059306;Note=PHD finger protein 14
O94880439485439499Zinc fingerNote=PHD-type 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01146
O948804855341888ChainID=PRO_0000059306;Note=PHD finger protein 14
O94880485534530530Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:23186163;Dbxref=PMID:20068231,PMID:21406692,PMID:23186163
O94880485534439499Zinc fingerNote=PHD-type 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01146
O948806606921888ChainID=PRO_0000059306;Note=PHD finger protein 14
O948808278441888ChainID=PRO_0000059306;Note=PHD finger protein 14
O94880827844835835Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163


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
O948804394851888ChainID=PRO_0000059306;Note=PHD finger protein 14
O94880439485439499Zinc fingerNote=PHD-type 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01146
O948804855341888ChainID=PRO_0000059306;Note=PHD finger protein 14
O94880485534530530Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:23186163;Dbxref=PMID:20068231,PMID:21406692,PMID:23186163
O94880485534439499Zinc fingerNote=PHD-type 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01146
O948806606921888ChainID=PRO_0000059306;Note=PHD finger protein 14
O948808278441888ChainID=PRO_0000059306;Note=PHD finger protein 14
O94880827844835835Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163


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SNVs in the skipped exons for PHF14

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
COADTCGA-AZ-6598-01exon_skip_464468
11021999110227861102228711022287Frame_Shift_DelA-p.E134fs
STADTCGA-BR-4361-01exon_skip_464468
11021999110227861102242611022426Frame_Shift_DelA-p.P180fs
STADTCGA-BR-8487-01exon_skip_464468
11021999110227861102242611022426Frame_Shift_DelA-p.P180fs
STADTCGA-CG-4442-01exon_skip_464468
11021999110227861102242611022426Frame_Shift_DelA-p.P180fs
UCECTCGA-BG-A0MQ-01exon_skip_464468
11021999110227861102242611022426Frame_Shift_DelA-p.P180fs
LIHCTCGA-DD-A39Y-01exon_skip_464471
11053374110535331105350911053509Frame_Shift_DelT-p.I394fs
LIHCTCGA-DD-A1EG-01exon_skip_464474
11062495110626061106250611062506Frame_Shift_DelT-p.I406fs
LIHCTCGA-DD-A3A0-01exon_skip_464475
11068308110684451106834311068343Frame_Shift_DelA-p.R451fs
LIHCTCGA-G3-A3CJ-01exon_skip_464476
11075267110754131107532811075328Frame_Shift_DelG-p.W506fs
UCECTCGA-AP-A054-01exon_skip_464476
11075267110754131107538011075381Frame_Shift_DelAG-p.K527fs
LIHCTCGA-DD-A1EG-01exon_skip_464477
11078387110784821107845411078454Frame_Shift_DelG-p.W683fs
LIHCTCGA-DD-A3A0-01exon_skip_464477
11078387110784821107847711078477Frame_Shift_DelG-p.G691fs
LIHCTCGA-DD-A3A0-01exon_skip_464487
11150977111510941115100411151004Frame_Shift_DelT-p.H609fs
UCECTCGA-A5-A0G5-01exon_skip_464468
11021999110227861102242511022426Frame_Shift_Ins-Ap.P180fs
LUADTCGA-44-2656-01exon_skip_464468
11021999110227861102208811022088Nonsense_MutationGTp.E68*
LUSCTCGA-46-3769-01exon_skip_464468
11021999110227861102209111022091Nonsense_MutationGTp.E69*
UCECTCGA-AP-A056-01exon_skip_464468
11021999110227861102214811022148Nonsense_MutationGTp.E88*
COADTCGA-AA-3511-01exon_skip_464468
11021999110227861102217811022178Nonsense_MutationATp.K98X
SKCMTCGA-EE-A182-06exon_skip_464468
11021999110227861102244211022442Nonsense_MutationCTp.R186*
SKCMTCGA-EE-A182-06exon_skip_464468
11021999110227861102244211022442Nonsense_MutationCTp.R186X
UCECTCGA-D1-A17M-01exon_skip_464468
11021999110227861102244511022445Nonsense_MutationCTp.R187*
READTCGA-EI-6882-01exon_skip_464468
11021999110227861102252911022529Nonsense_MutationCTp.R215X
KIRCTCGA-DV-A4VX-01exon_skip_464468
11021999110227861102257411022574Nonsense_MutationGTp.E230X
LUADTCGA-17-Z053-01exon_skip_464468
11021999110227861102270611022706Nonsense_MutationATp.K274*
LUADTCGA-78-8640-01exon_skip_464468
11021999110227861102273911022739Nonsense_MutationGTp.E285*
LGGTCGA-DU-6392-01exon_skip_464476
11075267110754131107541111075411Nonsense_MutationCTp.Q534*
READTCGA-EI-6507-01exon_skip_464478
11101418111014681110143611101436Nonsense_MutationCTp.R834X
UCECTCGA-B5-A11H-01exon_skip_464487
11150977111510941115105611151056Nonsense_MutationGTp.G912*
THYMTCGA-4V-A9QL-01exon_skip_464476
11075267110754131107526611075266Splice_SiteGT.

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
C33A_CERVIX11021999110227861102242611022426Frame_Shift_DelA-p.P180fs
DV90_LUNG11021999110227861102242611022426Frame_Shift_DelA-p.P180fs
SNU520_STOMACH11021999110227861102242611022426Frame_Shift_DelA-p.P180fs
HCT116_LARGE_INTESTINE11021999110227861102242611022426Frame_Shift_DelA-p.P180fs
SNU407_LARGE_INTESTINE11021999110227861102242611022426Frame_Shift_DelA-p.P180fs
SNUC5_LARGE_INTESTINE11021999110227861102242611022426Frame_Shift_DelA-p.P180fs
HCC1569_BREAST11062495110626061106258611062586Frame_Shift_DelT-p.Y433fs
JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE11075267110754131107538011075381Frame_Shift_DelAG-p.E524fs
NUGC3_STOMACH11075267110754131107538011075381Frame_Shift_DelAG-p.E524fs
KM12_LARGE_INTESTINE11075267110754131107538011075381Frame_Shift_DelAG-p.E524fs
YH13_CENTRAL_NERVOUS_SYSTEM11021999110227861102242511022426Frame_Shift_Ins-Ap.PK180fs
BICR18_UPPER_AERODIGESTIVE_TRACT11021999110227861102223811022255In_Frame_DelGAGAAGGAAAAAGAAAAG-p.EKEKEK124del
BICR18_UPPER_AERODIGESTIVE_TRACT11021999110227861102203111022031Missense_MutationGCp.A49P
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE11021999110227861102203111022031Missense_MutationGCp.A49P
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE11021999110227861102210911022109Missense_MutationACp.K75Q
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE11021999110227861102220311022203Missense_MutationAGp.E106G
NCIH740_LUNG11021999110227861102226311022263Missense_MutationACp.E126A
BFTC909_KIDNEY11021999110227861102230811022308Missense_MutationCGp.S141C
SNUC1_LARGE_INTESTINE11021999110227861102234311022343Missense_MutationCGp.P153A
MZ7MEL_SKIN11021999110227861102236211022362Missense_MutationCTp.A159V
OC316_OVARY11021999110227861102238211022382Missense_MutationGCp.V166L
OC314_OVARY11021999110227861102238211022382Missense_MutationGCp.V166L
SNU1040_LARGE_INTESTINE11021999110227861102244611022446Missense_MutationGAp.R187Q
DIPG007_CENTRAL_NERVOUS_SYSTEM11021999110227861102246911022469Missense_MutationGAp.V195M
NCIH2029_LUNG11021999110227861102253011022530Missense_MutationGCp.R215P
SNU1077_ENDOMETRIUM11021999110227861102263411022634Missense_MutationGAp.E250K
A253_SALIVARY_GLAND11021999110227861102269611022696Missense_MutationGTp.K270N
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE11021999110227861102270111022701Missense_MutationAGp.K272R
HUPT3_PANCREAS11021999110227861102277311022773Missense_MutationGTp.S296I
HOP62_LUNG11053374110535331105338311053383Missense_MutationGCp.G352A
NUGC4_STOMACH11053374110535331105350011053500Missense_MutationATp.Q391L
NCIH1876_LUNG11053374110535331105352311053523Missense_MutationGTp.D399Y
CHLA9_BONE11062495110626061106256011062560Missense_MutationGAp.R424Q
NCIH727_LUNG11062495110626061106256011062560Missense_MutationGAp.R424Q
SNU308_BILIARY_TRACT11062495110626061106256911062569Missense_MutationCGp.T427R
K029AX_SKIN11062495110626061106259011062590Missense_MutationCTp.S434F
ETK1_BILIARY_TRACT11075267110754131107532711075327Missense_MutationTGp.W506G
HCC2998_LARGE_INTESTINE11078387110784821107843311078433Missense_MutationGAp.R676Q
LS411N_LARGE_INTESTINE11078387110784821107845311078453Missense_MutationTCp.W683R
NCIH187_LUNG11150977111510941115097911150979Missense_MutationGTp.C601F
HCT15_LARGE_INTESTINE11150977111510941115104711151047Missense_MutationATp.T624S
KYSE520_OESOPHAGUS11150977111510941115104811151048Missense_MutationCTp.T624I
HEC1B_ENDOMETRIUM11150977111510941115105611151056Missense_MutationGAp.G627R
CMK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE11150977111510941115106111151061Missense_MutationGCp.W628C
KMS34_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE11021999110227861102256811022568Nonsense_MutationCTp.Q228*
HEC251_ENDOMETRIUM11021999110227861102278411022784Nonsense_MutationGTp.E300*
NCIH358_LUNG11068308110684451106841311068413Nonsense_MutationGTp.E475*
RKO_LARGE_INTESTINE11053374110535331105337411053374Splice_SiteGTp.G349V

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PHF14

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 PHF14


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PHF14


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RelatedDrugs for PHF14

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 PHF14

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