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 OFD1

check button Gene summary
Gene informationGene symbol

OFD1

Gene ID

8481

Gene nameOFD1, centriole and centriolar satellite protein
Synonyms71-7A|CXorf5|JBTS10|RP23|SGBS2
Cytomap

Xp22.2

Type of geneprotein-coding
Descriptionoral-facial-digital syndrome 1 proteinprotein 71-7A
Modification date20180522
UniProtAcc

O75665

ContextPubMed: OFD1 [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 OFD1 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 OFD1

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 OFD1

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_509200X13753366:13753465:13754226:13754415:13754596:1375466613754226:13754415ENSG00000046651.10ENST00000485052.1
exon_skip_509205X13757120:13757151:13758207:13758332:13762533:1376263813758207:13758332ENSG00000046651.10ENST00000380567.1
exon_skip_509206X13764437:13764574:13764898:13765072:13767545:1376765213764898:13765072ENSG00000046651.10ENST00000490265.1,ENST00000380567.1,ENST00000398395.3,ENST00000380550.3,ENST00000340096.6
exon_skip_509208X13767545:13767652:13769367:13769487:13770822:1377094913769367:13769487ENSG00000046651.10ENST00000490265.1,ENST00000398395.3
exon_skip_509209X13767545:13767652:13769367:13769487:13771486:1377156013769367:13769487ENSG00000046651.10ENST00000380567.1,ENST00000340096.6
exon_skip_509216X13769367:13769487:13770822:13771560:13773269:1377336113770822:13771560ENSG00000046651.10ENST00000490265.1
exon_skip_509218X13769367:13769487:13771486:13771560:13773269:1377336113771486:13771560ENSG00000046651.10ENST00000380567.1,ENST00000340096.6
exon_skip_509223X13775778:13775909:13776455:13776567:13778233:1377832613776455:13776567ENSG00000046651.10ENST00000490265.1,ENST00000380567.1,ENST00000380550.3,ENST00000340096.6
exon_skip_509230X13780462:13780563:13781863:13781974:13785245:1378533613781863:13781974ENSG00000046651.10ENST00000490265.1,ENST00000380567.1,ENST00000380550.3,ENST00000340096.6
exon_skip_509239X13780462:13780563:13785245:13785403:13786172:1378634313785245:13785403ENSG00000046651.10ENST00000464463.1
exon_skip_509248X13781869:13781974:13785245:13785403:13786172:1378634313785245:13785403ENSG00000046651.10ENST00000490265.1,ENST00000380567.1,ENST00000380550.3,ENST00000340096.6

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

Top

Exon skipping events with PSIs in GTEx for OFD1

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_509200X13753366:13753465:13754226:13754415:13754596:1375466613754226:13754415ENSG00000046651.10ENST00000485052.1
exon_skip_509205X13757120:13757151:13758207:13758332:13762533:1376263813758207:13758332ENSG00000046651.10ENST00000380567.1
exon_skip_509206X13764437:13764574:13764898:13765072:13767545:1376765213764898:13765072ENSG00000046651.10ENST00000380550.3,ENST00000398395.3,ENST00000340096.6,ENST00000380567.1,ENST00000490265.1
exon_skip_509208X13767545:13767652:13769367:13769487:13770822:1377094913769367:13769487ENSG00000046651.10ENST00000398395.3,ENST00000490265.1
exon_skip_509209X13767545:13767652:13769367:13769487:13771486:1377156013769367:13769487ENSG00000046651.10ENST00000340096.6,ENST00000380567.1
exon_skip_509216X13769367:13769487:13770822:13771560:13773269:1377336113770822:13771560ENSG00000046651.10ENST00000490265.1
exon_skip_509218X13769367:13769487:13771486:13771560:13773269:1377336113771486:13771560ENSG00000046651.10ENST00000340096.6,ENST00000380567.1
exon_skip_509223X13775778:13775909:13776455:13776567:13778233:1377832613776455:13776567ENSG00000046651.10ENST00000380550.3,ENST00000340096.6,ENST00000380567.1,ENST00000490265.1
exon_skip_509230X13780462:13780563:13781863:13781974:13785245:1378533613781863:13781974ENSG00000046651.10ENST00000380550.3,ENST00000340096.6,ENST00000380567.1,ENST00000490265.1
exon_skip_509239X13780462:13780563:13785245:13785403:13786172:1378634313785245:13785403ENSG00000046651.10ENST00000464463.1
exon_skip_509248X13781869:13781974:13785245:13785403:13786172:1378634313785245:13785403ENSG00000046651.10ENST00000380550.3,ENST00000340096.6,ENST00000380567.1,ENST00000490265.1

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 OFD1

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
ENST000003400961377148613771560Frame-shift
ENST000003400961377645513776567Frame-shift
ENST000003400961378524513785403Frame-shift
ENST000003400961376489813765072In-frame
ENST000003400961376936713769487In-frame
ENST000003400961378186313781974In-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
ENST000003400961377148613771560Frame-shift
ENST000003400961377645513776567Frame-shift
ENST000003400961378524513785403Frame-shift
ENST000003400961376489813765072In-frame
ENST000003400961376936713769487In-frame
ENST000003400961378186313781974In-frame

Top

Infer the effects of exon skipping event on protein functional features for OFD1

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
ENST000003400963628101213764898137650729821155218276
ENST0000034009636281012137693671376948712631382312351
ENST0000034009636281012137818631378197428162926829866

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
ENST000003400963628101213764898137650729821155218276
ENST0000034009636281012137693671376948712631382312351
ENST0000034009636281012137818631378197428162926829866

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
O7566521827611012ChainID=PRO_0000058029;Note=Oral-facial-digital syndrome 1 protein
O75665218276189557Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
O75665312351313352Alternative sequenceID=VSP_023334;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
O7566531235111012ChainID=PRO_0000058029;Note=Oral-facial-digital syndrome 1 protein
O75665312351189557Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
O756658298663681012Alternative sequenceID=VSP_004178;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:9722947;Dbxref=PMID:9722947
O7566582986611012ChainID=PRO_0000058029;Note=Oral-facial-digital syndrome 1 protein
O756658298666151012RegionNote=Mediates the interaction with SDCCAG8;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20835237;Dbxref=PMID:20835237


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
O7566521827611012ChainID=PRO_0000058029;Note=Oral-facial-digital syndrome 1 protein
O75665218276189557Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
O75665312351313352Alternative sequenceID=VSP_023334;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
O7566531235111012ChainID=PRO_0000058029;Note=Oral-facial-digital syndrome 1 protein
O75665312351189557Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
O756658298663681012Alternative sequenceID=VSP_004178;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:9722947;Dbxref=PMID:9722947
O7566582986611012ChainID=PRO_0000058029;Note=Oral-facial-digital syndrome 1 protein
O756658298666151012RegionNote=Mediates the interaction with SDCCAG8;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20835237;Dbxref=PMID:20835237


Top

SNVs in the skipped exons for OFD1

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
HNSCTCGA-F7-A624-01exon_skip_509206
13764899137650721376494613764946Frame_Shift_DelA-p.A94fs
KIRCTCGA-B8-5552-01exon_skip_509206
13764899137650721376494613764946Frame_Shift_DelA-p.A94fs
PAADTCGA-2J-AABO-01exon_skip_509206
13764899137650721376494613764946Frame_Shift_DelA-p.A94fs
PAADTCGA-3A-A9IU-01exon_skip_509206
13764899137650721376494613764946Frame_Shift_DelA-p.A94fs
PAADTCGA-F2-A44H-01exon_skip_509206
13764899137650721376494613764946Frame_Shift_DelA-p.A94fs
PAADTCGA-HV-A5A6-01exon_skip_509206
13764899137650721376494613764946Frame_Shift_DelA-p.A94fs
PAADTCGA-HV-AA8X-01exon_skip_509206
13764899137650721376494613764946Frame_Shift_DelA-p.A94fs
UCECTCGA-AX-A06H-01exon_skip_509206
13764899137650721376494613764946Frame_Shift_DelA-p.A234fs
UCECTCGA-B5-A0K9-01exon_skip_509206
13764899137650721376494613764946Frame_Shift_DelA-p.A234fs
UCECTCGA-BG-A0VZ-01exon_skip_509206
13764899137650721376494613764946Frame_Shift_DelA-p.A234fs
UCSTCGA-N7-A4Y0-01exon_skip_509206
13764899137650721376494613764946Frame_Shift_DelA-p.A94fs
LIHCTCGA-DD-A39Y-01exon_skip_509206
13764899137650721376500913765009Frame_Shift_DelA-p.A115fs
LIHCTCGA-G3-A3CJ-01exon_skip_509209
exon_skip_509208
13769368137694871376944313769443Frame_Shift_DelT-p.S197fs
LIHCTCGA-DD-A39Y-01exon_skip_509239
exon_skip_509248
13785246137854031378528513785285Frame_Shift_DelA-p.E740fs
LIHCTCGA-DD-A3A0-01exon_skip_509239
exon_skip_509248
13785246137854031378529413785294Frame_Shift_DelG-p.R743fs
LUADTCGA-75-5122-01exon_skip_509206
13764899137650721376494513764946Frame_Shift_Ins-Ap.A234fs
LUADTCGA-75-5122-01exon_skip_509206
13764899137650721376494513764946Frame_Shift_Ins-Ap.E94fs
UCECTCGA-AP-A0LM-01exon_skip_509216
13770823137715601377153013771530Nonsense_MutationCTp.R367*
UCECTCGA-AP-A0LM-01exon_skip_509218
13771487137715601377153013771530Nonsense_MutationCTp.R367*
UCECTCGA-D1-A17Q-01exon_skip_509216
13770823137715601377153013771530Nonsense_MutationCTp.R367*
UCECTCGA-D1-A17Q-01exon_skip_509218
13771487137715601377153013771530Nonsense_MutationCTp.R367*
BRCATCGA-A1-A0SJ-01exon_skip_509223
13776456137765671377656113776561Nonsense_MutationCTp.Q550*
LUADTCGA-05-4382-01exon_skip_509239
exon_skip_509248
13785246137854031378531413785314Nonsense_MutationCTp.R750*
LUADTCGA-05-4382-01exon_skip_509239
exon_skip_509248
13785246137854031378531413785314Nonsense_MutationCTp.R890*
UCECTCGA-BS-A0UV-01exon_skip_509239
exon_skip_509248
13785246137854031378537713785377Nonsense_MutationGTp.E911*

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
639V_URINARY_TRACT13764899137650721376494513764946Frame_Shift_Ins-Ap.AK234fs
CALU6_LUNG13764899137650721376494513764946Frame_Shift_Ins-Ap.AK234fs
COV644_OVARY13764899137650721376494513764946Frame_Shift_Ins-Ap.AK234fs
EWS502_BONE13764899137650721376494513764946Frame_Shift_Ins-Ap.AK234fs
HEC59_ENDOMETRIUM13764899137650721376494513764946Frame_Shift_Ins-Ap.AK234fs
HT29_LARGE_INTESTINE13764899137650721376494513764946Frame_Shift_Ins-Ap.AK234fs
JHOM2B_OVARY13764899137650721376494513764946Frame_Shift_Ins-Ap.AK234fs
JHUEM7_ENDOMETRIUM13764899137650721376494513764946Frame_Shift_Ins-Ap.AK234fs
JVM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE13764899137650721376494513764946Frame_Shift_Ins-Ap.AK234fs
KE39_STOMACH13764899137650721376494513764946Frame_Shift_Ins-Ap.AK234fs
KMH2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE13764899137650721376494513764946Frame_Shift_Ins-Ap.AK234fs
KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE13764899137650721376494513764946Frame_Shift_Ins-Ap.AK234fs
KYSE150_OESOPHAGUS13764899137650721376494513764946Frame_Shift_Ins-Ap.AK234fs
OAW28_OVARY13764899137650721376494513764946Frame_Shift_Ins-Ap.AK234fs
RL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE13764899137650721376494513764946Frame_Shift_Ins-Ap.AK234fs
SH10TC_STOMACH13764899137650721376494513764946Frame_Shift_Ins-Ap.AK234fs
SKMEL31_SKIN13764899137650721376494513764946Frame_Shift_Ins-Ap.AK234fs
SNU1077_ENDOMETRIUM13764899137650721376494513764946Frame_Shift_Ins-Ap.AK234fs
SNU201_CENTRAL_NERVOUS_SYSTEM13764899137650721376494513764946Frame_Shift_Ins-Ap.AK234fs
SNU886_LIVER13764899137650721376494513764946Frame_Shift_Ins-Ap.AK234fs
SNUC5_LARGE_INTESTINE13764899137650721376494513764946Frame_Shift_Ins-Ap.AK234fs
SUDHL5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE13764899137650721376494513764946Frame_Shift_Ins-Ap.AK234fs
TCCSUP_URINARY_TRACT13764899137650721376494513764946Frame_Shift_Ins-Ap.AK234fs
TE5_OESOPHAGUS13764899137650721376494513764946Frame_Shift_Ins-Ap.AK234fs
HEC59_ENDOMETRIUM13764899137650721376490513764905Missense_MutationTCp.F221L
NALM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE13764899137650721376492013764920Missense_MutationGAp.E226K
HEC251_ENDOMETRIUM13764899137650721376496413764964Missense_MutationGTp.K240N
NCIH747_LARGE_INTESTINE13764899137650721376498613764986Missense_MutationGAp.D248N
JHUEM1_ENDOMETRIUM13764899137650721376500513765005Missense_MutationAGp.Q254R
MEG01_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE13764899137650721376505813765058Missense_MutationCTp.H272Y
U266B1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE13764899137650721376505813765058Missense_MutationCTp.H272Y
LNCAPCLONEFGC_PROSTATE13770823137715601377151013771510Missense_MutationAGp.D360G
LNCAPCLONEFGC_PROSTATE13771487137715601377151013771510Missense_MutationAGp.D360G
SNU1040_LARGE_INTESTINE13770823137715601377154913771549Missense_MutationGAp.R373K
SNU1040_LARGE_INTESTINE13771487137715601377154913771549Missense_MutationGAp.R373K
HCT15_LARGE_INTESTINE13776456137765671377652713776527Missense_MutationGTp.Q538H
KYSE70_OESOPHAGUS13781864137819741378189413781894Missense_MutationTCp.M840T
NCIH2373_PLEURA13781864137819741378191413781914Missense_MutationGAp.G847R
TOV21G_OVARY13785246137854031378529313785293Missense_MutationCTp.R883W
ISHIKAWAHERAKLIO02ER_ENDOMETRIUM13785246137854031378531513785315Missense_MutationGAp.R890Q
JSC1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE13785246137854031378535413785354Missense_MutationATp.E903V
JHUEM7_ENDOMETRIUM13769368137694871376947713769477Nonsense_MutationGTp.E349*
SNU886_LIVER13785246137854031378532313785323Nonsense_MutationATp.R893*
MS1_SKIN13785246137854031378523213785246Splice_SiteTTCTGTCCTATTAGG-p.F867del
MS1_LUNG13785246137854031378524113785246Splice_SiteATTAGG-p.I867del

Top

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for OFD1

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 OFD1


Top

Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for OFD1


Top

RelatedDrugs for OFD1

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

Top

RelatedDiseases for OFD1

check button Diseases associated with this gene.
(DisGeNet 4.0)
GeneDisease IDDisease name# pubmedsSource
OFD1C1510460Orofaciodigital Syndrome I5ORPHANET;UNIPROT
OFD1C0265251Oto-Palato-digital syndrome type 11CTD_human