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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 POT1

check button Gene summary
Gene informationGene symbol

POT1

Gene ID

25913

Gene nameprotection of telomeres 1
SynonymsCMM10|GLM9|HPOT1
Cytomap

7q31.33

Type of geneprotein-coding
Descriptionprotection of telomeres protein 1POT1-like telomere end-binding proteinprotection of telomeres 1 homolog
Modification date20180523
UniProtAcc

Q9NUX5

ContextPubMed: POT1 [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
POT1

GO:0007004

telomere maintenance via telomerase

12768206

POT1

GO:0032202

telomere assembly

16043710

POT1

GO:0032212

positive regulation of telomere maintenance via telomerase

17237768

POT1

GO:0032508

DNA duplex unwinding

16030011

POT1

GO:0051096

positive regulation of helicase activity

16030011

POT1

GO:0051973

positive regulation of telomerase activity

16043710|17237768

POT1

GO:0051974

negative regulation of telomerase activity

15632080

POT1

GO:0060383

positive regulation of DNA strand elongation

16043710

POT1

GO:1905774

regulation of DNA helicase activity

19734539

POT1

GO:1905776

positive regulation of DNA helicase activity

19734539


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Exon skipping events across known transcript of Ensembl for POT1 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 POT1

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 POT1

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_4793467124467267:124467359:124469307:124469396:124475332:124475468124469307:124469396ENSG00000128513.10ENST00000608057.1,ENST00000357628.3,ENST00000609106.1,ENST00000393329.1
exon_skip_4793487124467267:124467359:124475332:124475468:124481026:124481232124475332:124475468ENSG00000128513.10ENST00000607932.1
exon_skip_4793497124469307:124469396:124475332:124475468:124481026:124481232124475332:124475468ENSG00000128513.10ENST00000608057.1,ENST00000357628.3,ENST00000609106.1,ENST00000393329.1
exon_skip_4793507124482860:124483017:124486995:124487052:124491925:124492005124486995:124487052ENSG00000128513.10ENST00000357628.3,ENST00000609106.1,ENST00000607932.1,ENST00000393329.1
exon_skip_4793517124486995:124487052:124488593:124488713:124491925:124492005124488593:124488713ENSG00000128513.10ENST00000608057.1
exon_skip_4793527124493025:124493192:124499010:124499166:124503403:124503439124499010:124499166ENSG00000128513.10ENST00000608057.1,ENST00000357628.3,ENST00000609106.1,ENST00000607932.1,ENST00000393329.1
exon_skip_4793547124499031:124499166:124503403:124503694:124510964:124511095124503403:124503694ENSG00000128513.10ENST00000608057.1,ENST00000357628.3,ENST00000609106.1,ENST00000607932.1
exon_skip_4793557124499031:124499166:124503403:124503694:124532319:124532434124503403:124503694ENSG00000128513.10ENST00000429326.1,ENST00000393329.1
exon_skip_4793587124503403:124503694:124510964:124511095:124532319:124532434124510964:124511095ENSG00000128513.10ENST00000608057.1,ENST00000357628.3,ENST00000609106.1,ENST00000607932.1
exon_skip_4793607124532319:124532434:124532755:124532869:124537218:124537238124532755:124532869ENSG00000128513.10ENST00000608261.1
exon_skip_4793627124538314:124538428:124555627:124555700:124568868:124569050124555627:124555700ENSG00000128513.10ENST00000446993.1,ENST00000608261.1,ENST00000608437.1,ENST00000357628.3,ENST00000461288.1,ENST00000609106.1,ENST00000393329.1

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

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Exon skipping events with PSIs in GTEx for POT1

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_4793467124467267:124467359:124469307:124469396:124475332:124475468124469307:124469396ENSG00000128513.10ENST00000357628.3,ENST00000393329.1,ENST00000609106.1,ENST00000608057.1
exon_skip_4793487124467267:124467359:124475332:124475468:124481026:124481232124475332:124475468ENSG00000128513.10ENST00000607932.1
exon_skip_4793497124469307:124469396:124475332:124475468:124481026:124481232124475332:124475468ENSG00000128513.10ENST00000357628.3,ENST00000393329.1,ENST00000609106.1,ENST00000608057.1
exon_skip_4793507124482860:124483017:124486995:124487052:124491925:124492005124486995:124487052ENSG00000128513.10ENST00000357628.3,ENST00000393329.1,ENST00000609106.1,ENST00000607932.1
exon_skip_4793517124486995:124487052:124488593:124488713:124491925:124492005124488593:124488713ENSG00000128513.10ENST00000608057.1
exon_skip_4793527124493025:124493192:124499010:124499166:124503403:124503439124499010:124499166ENSG00000128513.10ENST00000357628.3,ENST00000393329.1,ENST00000609106.1,ENST00000607932.1,ENST00000608057.1
exon_skip_4793547124499031:124499166:124503403:124503694:124510964:124511095124503403:124503694ENSG00000128513.10ENST00000357628.3,ENST00000609106.1,ENST00000607932.1,ENST00000608057.1
exon_skip_4793557124499031:124499166:124503403:124503694:124532319:124532434124503403:124503694ENSG00000128513.10ENST00000393329.1,ENST00000429326.1
exon_skip_4793587124503403:124503694:124510964:124511095:124532319:124532434124510964:124511095ENSG00000128513.10ENST00000357628.3,ENST00000609106.1,ENST00000607932.1,ENST00000608057.1
exon_skip_4793607124532319:124532434:124532755:124532869:124537218:124537238124532755:124532869ENSG00000128513.10ENST00000608261.1
exon_skip_4793627124538314:124538428:124555627:124555700:124568868:124569050124555627:124555700ENSG00000128513.10ENST00000357628.3,ENST00000393329.1,ENST00000609106.1,ENST00000446993.1,ENST00000608261.1,ENST00000608437.1,ENST00000461288.1

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 POT1

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
ENST000003576281245556271245557003UTR-3UTR
ENST00000357628124469307124469396Frame-shift
ENST00000357628124475332124475468Frame-shift
ENST00000357628124510964124511095Frame-shift
ENST00000357628124486995124487052In-frame
ENST00000357628124499010124499166In-frame
ENST00000357628124503403124503694In-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
ENST000003576281245556271245557003UTR-3UTR
ENST00000357628124469307124469396Frame-shift
ENST00000357628124475332124475468Frame-shift
ENST00000357628124510964124511095Frame-shift
ENST00000357628124486995124487052In-frame
ENST00000357628124499010124499166In-frame
ENST00000357628124503403124503694In-frame

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Infer the effects of exon skipping event on protein functional features for POT1

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
ENST000003576284097634124503403124503694855114585182
ENST00000357628409763412449901012449916611461301182234
ENST00000357628409763412448699512448705215491605316335

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
ENST000003576284097634124503403124503694855114585182
ENST00000357628409763412449901012449916611461301182234
ENST00000357628409763412448699512448705215491605316335

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
Q9NUX5851827889Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1XJV
Q9NUX58518292106Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1XJV
Q9NUX585182161173Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1XJV
Q9NUX585182175184Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1XJV
Q9NUX5851821634ChainID=PRO_0000121728;Note=Protection of telomeres protein 1
Q9NUX585182127143HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1XJV
Q9NUX585182153155HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1XJV
Q9NUX5851828989Natural variantID=VAR_071390;Note=In CMM10%3B complete abolition of POT1-DNA complex formation%2C thus disrupting the interaction with telomeres and leading to elongated telomeres. Y->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24686849;Dbxref=dbSNP:rs587777
Q9NUX5851829494Natural variantID=VAR_071391;Note=In CMM10%3B complete abolition of POT1-DNA complex formation%2C thus disrupting the interaction with telomeres and leading to elongated telomeres. Q->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24686849;Dbxref=dbSNP:rs587777
Q9NUX5851829595Natural variantID=VAR_075717;Note=In GLM9. G->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25482530;Dbxref=dbSNP:rs797045168,PMID:25482530
Q9NUX585182137137Natural variantID=VAR_071392;Note=In CMM10%3B increased telomere intensity signals and telomere fragility. R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24686846;Dbxref=dbSNP:rs587777475,PMID:24686846
Q9NUX5182234175184Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1XJV
Q9NUX5182234217223Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1XJV
Q9NUX51822341634ChainID=PRO_0000121728;Note=Protection of telomeres protein 1
Q9NUX5182234207213HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1XJV
Q9NUX5182234214216HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1XJV
Q9NUX5182234226232HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1XJV
Q9NUX5182234224224Natural variantID=VAR_071393;Note=In CMM10. D->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24686846;Dbxref=dbSNP:rs202187871,PMID:24686846
Q9NUX5182234200202TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3KJP
Q9NUX5316335334339Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5UN7
Q9NUX53163351634ChainID=PRO_0000121728;Note=Protection of telomeres protein 1


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
Q9NUX5851827889Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1XJV
Q9NUX58518292106Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1XJV
Q9NUX585182161173Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1XJV
Q9NUX585182175184Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1XJV
Q9NUX5851821634ChainID=PRO_0000121728;Note=Protection of telomeres protein 1
Q9NUX585182127143HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1XJV
Q9NUX585182153155HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1XJV
Q9NUX5851828989Natural variantID=VAR_071390;Note=In CMM10%3B complete abolition of POT1-DNA complex formation%2C thus disrupting the interaction with telomeres and leading to elongated telomeres. Y->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24686849;Dbxref=dbSNP:rs587777
Q9NUX5851829494Natural variantID=VAR_071391;Note=In CMM10%3B complete abolition of POT1-DNA complex formation%2C thus disrupting the interaction with telomeres and leading to elongated telomeres. Q->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24686849;Dbxref=dbSNP:rs587777
Q9NUX5851829595Natural variantID=VAR_075717;Note=In GLM9. G->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25482530;Dbxref=dbSNP:rs797045168,PMID:25482530
Q9NUX585182137137Natural variantID=VAR_071392;Note=In CMM10%3B increased telomere intensity signals and telomere fragility. R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24686846;Dbxref=dbSNP:rs587777475,PMID:24686846
Q9NUX5182234175184Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1XJV
Q9NUX5182234217223Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1XJV
Q9NUX51822341634ChainID=PRO_0000121728;Note=Protection of telomeres protein 1
Q9NUX5182234207213HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1XJV
Q9NUX5182234214216HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1XJV
Q9NUX5182234226232HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1XJV
Q9NUX5182234224224Natural variantID=VAR_071393;Note=In CMM10. D->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24686846;Dbxref=dbSNP:rs202187871,PMID:24686846
Q9NUX5182234200202TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3KJP
Q9NUX5316335334339Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5UN7
Q9NUX53163351634ChainID=PRO_0000121728;Note=Protection of telomeres protein 1


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SNVs in the skipped exons for POT1

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-DD-A39Y-01exon_skip_479355
exon_skip_479354
124503404124503694124503494124503494Frame_Shift_DelT-p.K152fs
LUADTCGA-44-6774-01exon_skip_479349
exon_skip_479348
124475333124475468124475445124475445Nonsense_MutationTAp.K465*
THYMTCGA-XU-AAXY-01exon_skip_479350
124486996124487052124487043124487043Nonsense_MutationGTp.S320X
LUSCTCGA-39-5031-01exon_skip_479352
124499011124499166124499073124499073Nonsense_MutationGAp.Q214*
KIRCTCGA-CZ-5453-01exon_skip_479355
exon_skip_479354
124503404124503694124503402124503402Splice_SiteAT.

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
NCIH1341_LUNG124499011124499166124499114124499114Frame_Shift_DelT-p.D200fs
PFEIFFER_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE124503404124503694124503487124503488Frame_Shift_DelCA-p.CD154fs
NCIH358_LUNG124469308124469396124469340124469340Missense_MutationTCp.K521R
EW1_BONE124475333124475468124475348124475348Missense_MutationGAp.T497I
HCT15_LARGE_INTESTINE124475333124475468124475393124475393Missense_MutationTCp.D482G
P30OHK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE124475333124475468124475397124475397Missense_MutationCTp.E481K
NMCG1_CENTRAL_NERVOUS_SYSTEM124486996124487052124487025124487025Missense_MutationAGp.V326A
KASUMI6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE124486996124487052124487025124487025Missense_MutationAGp.V326A
ME1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE124486996124487052124487025124487025Missense_MutationAGp.V326A
BALL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE124486996124487052124487025124487025Missense_MutationAGp.V326A
CAR1_LARGE_INTESTINE124486996124487052124487025124487025Missense_MutationAGp.V326A
EN_ENDOMETRIUM124486996124487052124487025124487025Missense_MutationAGp.V326A
HAL01_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE124486996124487052124487025124487025Missense_MutationAGp.V326A
NOS1_BONE124486996124487052124487025124487025Missense_MutationAGp.V326A
OVISE_OVARY124486996124487052124487025124487025Missense_MutationAGp.V326A
SKNO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE124486996124487052124487025124487025Missense_MutationAGp.V326A
EMCBAC1_LUNG124499011124499166124499057124499057Missense_MutationTGp.D219A
NCIH1793_LUNG124499011124499166124499156124499156Missense_MutationCAp.G186V
JHUEM7_ENDOMETRIUM124503404124503694124503412124503412Missense_MutationGTp.L180I
NCIH727_LUNG124503404124503694124503424124503424Missense_MutationCTp.G176R
GOTO_AUTONOMIC_GANGLIA124503404124503694124503441124503441Missense_MutationCTp.G170D
NCIH2452_PLEURA124503404124503694124503475124503475Missense_MutationTCp.M159V
HCC2998_LARGE_INTESTINE124503404124503694124503508124503508Missense_MutationAGp.W148R
KM12_LARGE_INTESTINE124503404124503694124503570124503570Missense_MutationGAp.T127I
SNU520_STOMACH124503404124503694124503669124503669Missense_MutationTGp.Q94P
MFE319_ENDOMETRIUM124503404124503694124503669124503669Missense_MutationTCp.Q94R
RAMOS2G64C10_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE124510965124511095124511000124511000Missense_MutationTCp.K74E
MYLA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE124510965124511095124511036124511036Missense_MutationACp.F62V
CORL95_LUNG124510965124511095124511065124511065Missense_MutationTGp.Q52P
MCC13_SKIN124503404124503694124503691124503691Nonsense_MutationGAp.Q87*
ES8_BONE124510965124511095124511066124511066Nonsense_MutationGAp.Q52*
LIM1215_LARGE_INTESTINE124510965124511095124510965124510965Splice_SiteCAp.K85N

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for POT1

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 POT1


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for POT1


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RelatedDrugs for POT1

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 POT1

check button Diseases associated with this gene.
(DisGeNet 4.0)
GeneDisease IDDisease name# pubmedsSource
POT1C0023448Lymphoid leukemia2CTD_human
POT1C4014476MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 102UNIPROT
POT1C0008625Chromosome Aberrations1CTD_human
POT1C0008626Congenital chromosomal disease1CTD_human
POT1C0025202melanoma1CTD_human;HPO
POT1C0037286Skin Neoplasms1CTD_human
POT1C4225278GLIOMA SUSCEPTIBILITY 91UNIPROT