ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for PUM1

Gene summary

Gene information	Gene symbol	PUM1
	Gene ID	9698
	Gene name	pumilio RNA binding family member 1
	Synonyms	HSPUM\|PUMH\|PUMH1\|PUML1\|SCA47
	Cytomap	1p35.2
	Type of gene	protein-coding
	Description	pumilio homolog 1pumilio-1
	Modification date	20180519
	UniProtAcc	Q14671
	Context	PubMed: PUM1 [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract] - Title (PMID)

Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez

Gene	GO ID	GO term	PubMed ID
PUM1	GO:0010608	posttranscriptional regulation of gene expression	25100735
PUM1	GO:0043488	regulation of mRNA stability	26724866
PUM1	GO:0051726	regulation of cell cycle	20818387
PUM1	GO:0051983	regulation of chromosome segregation	26724866
PUM1	GO:1900246	positive regulation of RIG-I signaling pathway	25340845
PUM1	GO:2000637	positive regulation of gene silencing by miRNA	20818387\|22345517

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Exon skipping events across known transcript of Ensembl for PUM1 from UCSC genome browser

Skipped 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.

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Gene isoform structures and expression levels for PUM1

Expression levels of gene isoforms across TCGA.

Expression levels of gene isoforms across GTEx.

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Exon skipping events with PSIs in TCGA for PUM1

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_23895	1	31413997:31414119:31414768:31414970:31418192:31418219	31414768:31414970	ENSG00000134644.11	ENST00000530669.1
exon_skip_23898	1	31413997:31414119:31414844:31414970:31418192:31418219	31414844:31414970	ENSG00000134644.11	ENST00000257075.5,ENST00000373741.4,ENST00000498419.1,ENST00000440538.2,ENST00000426105.2,ENST00000423018.2,ENST00000525843.1,ENST00000373747.3,ENST00000373742.2,ENST00000424085.2
exon_skip_23900	1	31413997:31414119:31414844:31414970:31422979:31423108	31414844:31414970	ENSG00000134644.11	ENST00000525997.1
exon_skip_23901	1	31413997:31414119:31418192:31418330:31422973:31423108	31418192:31418330	ENSG00000134644.11	ENST00000529846.1
exon_skip_23903	1	31414844:31414970:31418192:31418330:31422973:31423108	31418192:31418330	ENSG00000134644.11	ENST00000373741.4,ENST00000498419.1,ENST00000440538.2,ENST00000426105.2,ENST00000423018.2,ENST00000373747.3
exon_skip_23904	1	31414844:31414970:31418192:31418330:31422979:31423108	31418192:31418330	ENSG00000134644.11	ENST00000257075.5,ENST00000525843.1,ENST00000373742.2,ENST00000424085.2
exon_skip_23909	1	31426560:31426828:31437520:31437757:31438828:31439044	31437520:31437757	ENSG00000134644.11	ENST00000257075.5,ENST00000373741.4,ENST00000498419.1,ENST00000440538.2,ENST00000426105.2,ENST00000423018.2,ENST00000373747.3,ENST00000373742.2,ENST00000424085.2
exon_skip_23912	1	31438828:31439044:31440013:31440157:31441200:31441339	31440013:31440157	ENSG00000134644.11	ENST00000440538.2
exon_skip_23913	1	31438993:31439125:31439945:31440157:31441200:31441339	31439945:31440157	ENSG00000134644.11	ENST00000490546.1
exon_skip_23915	1	31438993:31439125:31440013:31440157:31441200:31441339	31440013:31440157	ENSG00000134644.11	ENST00000257075.5,ENST00000373741.4,ENST00000498419.1,ENST00000426105.2,ENST00000525843.1,ENST00000373747.3,ENST00000373742.2,ENST00000424085.2
exon_skip_23918	1	31447497:31447649:31452908:31453010:31454158:31454252	31452908:31453010	ENSG00000134644.11	ENST00000257075.5,ENST00000373741.4,ENST00000526128.1,ENST00000426105.2,ENST00000423018.2,ENST00000424085.2
exon_skip_23919	1	31447497:31447649:31452908:31453013:31454158:31454252	31452908:31453013	ENSG00000134644.11	ENST00000440538.2,ENST00000525843.1,ENST00000373747.3,ENST00000373742.2
exon_skip_23920	1	31447497:31447649:31452908:31453025:31454158:31454252	31452908:31453025	ENSG00000134644.11	ENST00000498419.1
exon_skip_23921	1	31447497:31447649:31454158:31454252:31465236:31465507	31454158:31454252	ENSG00000134644.11	ENST00000532678.1
exon_skip_23930	1	31454184:31454252:31479840:31479949:31501642:31501711	31479840:31479949	ENSG00000134644.11	ENST00000526215.1
exon_skip_23932	1	31454184:31454252:31501642:31501711:31532050:31532424	31501642:31501711	ENSG00000134644.11	ENST00000424085.2
exon_skip_23933	1	31465287:31465507:31467900:31468067:31478699:31478878	31467900:31468067	ENSG00000134644.11	ENST00000257075.5,ENST00000373741.4,ENST00000440538.2,ENST00000426105.2,ENST00000525843.1,ENST00000373747.3,ENST00000525948.1
exon_skip_23934	1	31465287:31465507:31467900:31468067:31501642:31501711	31467900:31468067	ENSG00000134644.11	ENST00000423018.2,ENST00000373742.2
exon_skip_23935	1	31468028:31468067:31478699:31478878:31479840:31479946	31478699:31478878	ENSG00000134644.11	ENST00000257075.5,ENST00000373741.4,ENST00000440538.2,ENST00000480602.1,ENST00000426105.2,ENST00000525843.1,ENST00000373747.3,ENST00000525948.1
exon_skip_23938	1	31479840:31479949:31501642:31501711:31532050:31532424	31501642:31501711	ENSG00000134644.11	ENST00000257075.5,ENST00000373741.4,ENST00000440538.2,ENST00000426105.2,ENST00000525843.1,ENST00000373747.3
exon_skip_23939	1	31501642:31501711:31528159:31528227:31532050:31532286	31528159:31528227	ENSG00000134644.11	ENST00000480602.1
exon_skip_23942	1	31501642:31501711:31532050:31532424:31538462:31538523	31532050:31532424	ENSG00000134644.11	ENST00000524516.1,ENST00000257075.5,ENST00000440538.2,ENST00000426105.2,ENST00000423018.2,ENST00000373747.3
exon_skip_23943	1	31501642:31501711:31532145:31532424:31538462:31538523	31532145:31532424	ENSG00000134644.11	ENST00000526215.1,ENST00000525948.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for PUM1

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_23895	1	31413997:31414119:31414768:31414970:31418192:31418219	31414768:31414970	ENSG00000134644.11	ENST00000530669.1
exon_skip_23898	1	31413997:31414119:31414844:31414970:31418192:31418219	31414844:31414970	ENSG00000134644.11	ENST00000424085.2,ENST00000257075.5,ENST00000373747.3,ENST00000525843.1,ENST00000426105.2,ENST00000498419.1,ENST00000440538.2,ENST00000373741.4,ENST00000423018.2,ENST00000373742.2
exon_skip_23900	1	31413997:31414119:31414844:31414970:31422979:31423108	31414844:31414970	ENSG00000134644.11	ENST00000525997.1
exon_skip_23901	1	31413997:31414119:31418192:31418330:31422973:31423108	31418192:31418330	ENSG00000134644.11	ENST00000529846.1
exon_skip_23903	1	31414844:31414970:31418192:31418330:31422973:31423108	31418192:31418330	ENSG00000134644.11	ENST00000373747.3,ENST00000426105.2,ENST00000498419.1,ENST00000440538.2,ENST00000373741.4,ENST00000423018.2
exon_skip_23904	1	31414844:31414970:31418192:31418330:31422979:31423108	31418192:31418330	ENSG00000134644.11	ENST00000424085.2,ENST00000257075.5,ENST00000525843.1,ENST00000373742.2
exon_skip_23909	1	31426560:31426828:31437520:31437757:31438828:31439044	31437520:31437757	ENSG00000134644.11	ENST00000424085.2,ENST00000257075.5,ENST00000373747.3,ENST00000426105.2,ENST00000498419.1,ENST00000440538.2,ENST00000373741.4,ENST00000423018.2,ENST00000373742.2
exon_skip_23912	1	31438828:31439044:31440013:31440157:31441200:31441339	31440013:31440157	ENSG00000134644.11	ENST00000440538.2
exon_skip_23913	1	31438993:31439125:31439945:31440157:31441200:31441339	31439945:31440157	ENSG00000134644.11	ENST00000490546.1
exon_skip_23915	1	31438993:31439125:31440013:31440157:31441200:31441339	31440013:31440157	ENSG00000134644.11	ENST00000424085.2,ENST00000257075.5,ENST00000373747.3,ENST00000525843.1,ENST00000426105.2,ENST00000498419.1,ENST00000373741.4,ENST00000373742.2
exon_skip_23918	1	31447497:31447649:31452908:31453010:31454158:31454252	31452908:31453010	ENSG00000134644.11	ENST00000424085.2,ENST00000257075.5,ENST00000426105.2,ENST00000373741.4,ENST00000423018.2,ENST00000526128.1
exon_skip_23919	1	31447497:31447649:31452908:31453013:31454158:31454252	31452908:31453013	ENSG00000134644.11	ENST00000373747.3,ENST00000525843.1,ENST00000440538.2,ENST00000373742.2
exon_skip_23920	1	31447497:31447649:31452908:31453025:31454158:31454252	31452908:31453025	ENSG00000134644.11	ENST00000498419.1
exon_skip_23921	1	31447497:31447649:31454158:31454252:31465236:31465507	31454158:31454252	ENSG00000134644.11	ENST00000532678.1
exon_skip_23930	1	31454184:31454252:31479840:31479949:31501642:31501711	31479840:31479949	ENSG00000134644.11	ENST00000526215.1
exon_skip_23933	1	31465287:31465507:31467900:31468067:31478699:31478878	31467900:31468067	ENSG00000134644.11	ENST00000257075.5,ENST00000373747.3,ENST00000525843.1,ENST00000426105.2,ENST00000440538.2,ENST00000373741.4,ENST00000525948.1
exon_skip_23934	1	31465287:31465507:31467900:31468067:31501642:31501711	31467900:31468067	ENSG00000134644.11	ENST00000423018.2,ENST00000373742.2
exon_skip_23935	1	31468028:31468067:31478699:31478878:31479840:31479946	31478699:31478878	ENSG00000134644.11	ENST00000257075.5,ENST00000373747.3,ENST00000525843.1,ENST00000426105.2,ENST00000440538.2,ENST00000373741.4,ENST00000525948.1,ENST00000480602.1
exon_skip_23938	1	31479840:31479949:31501642:31501711:31532050:31532424	31501642:31501711	ENSG00000134644.11	ENST00000257075.5,ENST00000373747.3,ENST00000525843.1,ENST00000426105.2,ENST00000440538.2,ENST00000373741.4
exon_skip_23939	1	31501642:31501711:31528159:31528227:31532050:31532286	31528159:31528227	ENSG00000134644.11	ENST00000480602.1
exon_skip_23942	1	31501642:31501711:31532050:31532424:31538462:31538523	31532050:31532424	ENSG00000134644.11	ENST00000257075.5,ENST00000373747.3,ENST00000426105.2,ENST00000440538.2,ENST00000423018.2,ENST00000524516.1
exon_skip_23943	1	31501642:31501711:31532145:31532424:31538462:31538523	31532145:31532424	ENSG00000134644.11	ENST00000526215.1,ENST00000525948.1

PSI values of skipped exons in GTEx.

* Skipped exon sequences.

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Open reading frame (ORF) annotation in the exon skipping event for PUM1

Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms.

ENST	Start of skipped exon	End of skipped exon	ORF
ENST00000257075	31532050	31532424	3UTR-3CDS
ENST00000257075	31467900	31468067	Frame-shift
ENST00000257075	31478699	31478878	Frame-shift
ENST00000257075	31414844	31414970	In-frame
ENST00000257075	31418192	31418330	In-frame
ENST00000257075	31437520	31437757	In-frame
ENST00000257075	31440013	31440157	In-frame
ENST00000257075	31452908	31453010	In-frame
ENST00000257075	31501642	31501711	In-frame

Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms.

ENST	Start of skipped exon	End of skipped exon	ORF
ENST00000257075	31532050	31532424	3UTR-3CDS
ENST00000257075	31467900	31468067	Frame-shift
ENST00000257075	31478699	31478878	Frame-shift
ENST00000257075	31414844	31414970	In-frame
ENST00000257075	31418192	31418330	In-frame
ENST00000257075	31437520	31437757	In-frame
ENST00000257075	31440013	31440157	In-frame
ENST00000257075	31452908	31453010	In-frame
ENST00000257075	31501642	31501711	In-frame

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Infer the effects of exon skipping event on protein functional features for PUM1

Exon skipping at the protein sequence level and followed lost functional features.
* Click on the image to enlarge it in a new window.

Loci of skipped exons in TCGA across genomic, transcript, and protein sequence levels of In-frame cases.

ENST	Length of mRNA	Length of AA seq.	Genomic start	Genomic end	mRNA start	mRNA end	AA start	AA end
ENST00000257075	5377	1186	31501642	31501711	458	526	121	144
ENST00000257075	5377	1186	31452908	31453010	1347	1448	417	451
ENST00000257075	5377	1186	31440013	31440157	1740	1883	548	596
ENST00000257075	5377	1186	31437520	31437757	2181	2417	695	774
ENST00000257075	5377	1186	31418192	31418330	2945	3082	950	996
ENST00000257075	5377	1186	31414844	31414970	3083	3208	996	1038

Loci of skipped exons in GTEx across genomic, transcript, and protein sequence levels of In-frame cases.

ENST	Length of mRNA	Length of AA seq.	Genomic start	Genomic end	mRNA start	mRNA end	AA start	AA end
ENST00000257075	5377	1186	31501642	31501711	458	526	121	144
ENST00000257075	5377	1186	31452908	31453010	1347	1448	417	451
ENST00000257075	5377	1186	31440013	31440157	1740	1883	548	596
ENST00000257075	5377	1186	31437520	31437757	2181	2417	695	774
ENST00000257075	5377	1186	31418192	31418330	2945	3082	950	996
ENST00000257075	5377	1186	31414844	31414970	3083	3208	996	1038

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 feature	Description of feature
Q14671	121	144	2	1186	Chain	ID=PRO_0000075917;Note=Pumilio homolog 1
Q14671	121	144	124	124	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:23186163,ECO:0000244\|PubMed:24275569;Dbxref=PMID:23186163,PMID:24275569
Q14671	417	451	417	417	Alternative sequence	ID=VSP_017059;Note=In isoform 2 and isoform 4. I->IA;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:7788527;Dbxref=PMID:14702039,PMID:7788527
Q14671	417	451	2	1186	Chain	ID=PRO_0000075917;Note=Pumilio homolog 1
Q14671	417	451	393	613	Compositional bias	Note=Ala-rich
Q14671	548	596	2	1186	Chain	ID=PRO_0000075917;Note=Pumilio homolog 1
Q14671	548	596	393	613	Compositional bias	Note=Ala-rich
Q14671	695	774	2	1186	Chain	ID=PRO_0000075917;Note=Pumilio homolog 1
Q14671	695	774	642	815	Compositional bias	Note=Ser-rich
Q14671	695	774	709	709	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:19690332,ECO:0000244\|PubMed:20068231,ECO:0000244\|PubMed:21406692,ECO:0000244\|PubMed:23186163;Dbxref=PMID:1
Q14671	695	774	714	714	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:20818387;Dbxref=PMID:20818387
Q14671	695	774	714	714	Mutagenesis	Note=Decreased RNA-binding activity. S->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:20818387;Dbxref=PMID:20818387
Q14671	695	774	714	714	Mutagenesis	Note=Phospho-mimic mutant%3B persistent RNA-binding activity in quiescent cells. S->E;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:20818387;Dbxref=PMID:20818387
Q14671	950	996	950	950	Alternative sequence	ID=VSP_017061;Note=In isoform 2 and isoform 3. Q->QVI;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:7788527,ECO:0000303\|Ref.4;Dbxref=PMID:7788527
Q14671	950	996	2	1186	Chain	ID=PRO_0000075917;Note=Pumilio homolog 1
Q14671	950	996	828	1168	Domain	Note=PUM-HD;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00318
Q14671	950	996	947	954	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1IB2
Q14671	950	996	955	957	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1IB2
Q14671	950	996	961	966	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1IB2
Q14671	950	996	970	980	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1IB2
Q14671	950	996	983	986	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1IB2
Q14671	950	996	987	992	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1IB2
Q14671	950	996	971	975	Mutagenesis	Note=Specifically binds cytosine-nucleotide in RNA target. NHVVQ->GHVVR;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:21572425;Dbxref=PMID:21572425
Q14671	950	996	971	975	Region	Note=Non-specific-nucleotide binding in RNA target;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:18328718;Dbxref=PMID:18328718
Q14671	950	996	920	955	Repeat	Note=Pumilio 3;Ontology_term=ECO:0000255,ECO:0000269;evidence=ECO:0000255\|PROSITE-ProRule:PRU00317,ECO:0000269\|PubMed:21397187;Dbxref=PMID:21397187
Q14671	950	996	956	991	Repeat	Note=Pumilio 4;Ontology_term=ECO:0000255,ECO:0000269;evidence=ECO:0000255\|PROSITE-ProRule:PRU00317,ECO:0000269\|PubMed:21397187;Dbxref=PMID:21397187
Q14671	950	996	992	1027	Repeat	Note=Pumilio 5;Ontology_term=ECO:0000255,ECO:0000269;evidence=ECO:0000255\|PROSITE-ProRule:PRU00317,ECO:0000269\|PubMed:21397187;Dbxref=PMID:21397187
Q14671	950	996	993	996	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1IB2
Q14671	996	1038	2	1186	Chain	ID=PRO_0000075917;Note=Pumilio homolog 1
Q14671	996	1038	828	1168	Domain	Note=PUM-HD;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00318
Q14671	996	1038	997	1001	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1IB2
Q14671	996	1038	1006	1016	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1IB2
Q14671	996	1038	1019	1031	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1IB2
Q14671	996	1038	1033	1036	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1IB2
Q14671	996	1038	1007	1011	Mutagenesis	Note=Specifically binds cytosine-nucleotide in RNA target. CRVIQ->GRVIR%2CARVIR%2CSRVIR%2CTRVIR%2CCRVIR;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:21572425;Dbxref=PMID:21572425
Q14671	996	1038	1007	1011	Mutagenesis	Note=Specifically binds guanine-nucleotide in RNA target. CRVIQ->SRVIE;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:21572425;Dbxref=PMID:21572425
Q14671	996	1038	1007	1007	Mutagenesis	Note=Specifically binds uracil-nucleotide in RNA target. C->N;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:21572425;Dbxref=PMID:21572425
Q14671	996	1038	1033	1033	Natural variant	ID=VAR_080784;Note=In SCA47%3B results in reduced PUM1 protein levels and decreased post-transcriptional repression of E2F3 and ATXN1. T->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:29474920;Dbxref=PMID:29474920
Q14671	996	1038	1007	1011	Region	Note=Adenine-nucleotide binding in RNA target;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:18328718;Dbxref=PMID:18328718
Q14671	996	1038	992	1027	Repeat	Note=Pumilio 5;Ontology_term=ECO:0000255,ECO:0000269;evidence=ECO:0000255\|PROSITE-ProRule:PRU00317,ECO:0000269\|PubMed:21397187;Dbxref=PMID:21397187
Q14671	996	1038	1028	1063	Repeat	Note=Pumilio 6;Ontology_term=ECO:0000255,ECO:0000269;evidence=ECO:0000255\|PROSITE-ProRule:PRU00317,ECO:0000269\|PubMed:21397187;Dbxref=PMID:21397187
Q14671	996	1038	993	996	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1IB2

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 feature	Description of feature
Q14671	121	144	2	1186	Chain	ID=PRO_0000075917;Note=Pumilio homolog 1
Q14671	121	144	124	124	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:23186163,ECO:0000244\|PubMed:24275569;Dbxref=PMID:23186163,PMID:24275569
Q14671	417	451	417	417	Alternative sequence	ID=VSP_017059;Note=In isoform 2 and isoform 4. I->IA;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:7788527;Dbxref=PMID:14702039,PMID:7788527
Q14671	417	451	2	1186	Chain	ID=PRO_0000075917;Note=Pumilio homolog 1
Q14671	417	451	393	613	Compositional bias	Note=Ala-rich
Q14671	548	596	2	1186	Chain	ID=PRO_0000075917;Note=Pumilio homolog 1
Q14671	548	596	393	613	Compositional bias	Note=Ala-rich
Q14671	695	774	2	1186	Chain	ID=PRO_0000075917;Note=Pumilio homolog 1
Q14671	695	774	642	815	Compositional bias	Note=Ser-rich
Q14671	695	774	709	709	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:19690332,ECO:0000244\|PubMed:20068231,ECO:0000244\|PubMed:21406692,ECO:0000244\|PubMed:23186163;Dbxref=PMID:1
Q14671	695	774	714	714	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:20818387;Dbxref=PMID:20818387
Q14671	695	774	714	714	Mutagenesis	Note=Decreased RNA-binding activity. S->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:20818387;Dbxref=PMID:20818387
Q14671	695	774	714	714	Mutagenesis	Note=Phospho-mimic mutant%3B persistent RNA-binding activity in quiescent cells. S->E;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:20818387;Dbxref=PMID:20818387
Q14671	950	996	950	950	Alternative sequence	ID=VSP_017061;Note=In isoform 2 and isoform 3. Q->QVI;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:7788527,ECO:0000303\|Ref.4;Dbxref=PMID:7788527
Q14671	950	996	2	1186	Chain	ID=PRO_0000075917;Note=Pumilio homolog 1
Q14671	950	996	828	1168	Domain	Note=PUM-HD;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00318
Q14671	950	996	947	954	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1IB2
Q14671	950	996	955	957	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1IB2
Q14671	950	996	961	966	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1IB2
Q14671	950	996	970	980	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1IB2
Q14671	950	996	983	986	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1IB2
Q14671	950	996	987	992	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1IB2
Q14671	950	996	971	975	Mutagenesis	Note=Specifically binds cytosine-nucleotide in RNA target. NHVVQ->GHVVR;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:21572425;Dbxref=PMID:21572425
Q14671	950	996	971	975	Region	Note=Non-specific-nucleotide binding in RNA target;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:18328718;Dbxref=PMID:18328718
Q14671	950	996	920	955	Repeat	Note=Pumilio 3;Ontology_term=ECO:0000255,ECO:0000269;evidence=ECO:0000255\|PROSITE-ProRule:PRU00317,ECO:0000269\|PubMed:21397187;Dbxref=PMID:21397187
Q14671	950	996	956	991	Repeat	Note=Pumilio 4;Ontology_term=ECO:0000255,ECO:0000269;evidence=ECO:0000255\|PROSITE-ProRule:PRU00317,ECO:0000269\|PubMed:21397187;Dbxref=PMID:21397187
Q14671	950	996	992	1027	Repeat	Note=Pumilio 5;Ontology_term=ECO:0000255,ECO:0000269;evidence=ECO:0000255\|PROSITE-ProRule:PRU00317,ECO:0000269\|PubMed:21397187;Dbxref=PMID:21397187
Q14671	950	996	993	996	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1IB2
Q14671	996	1038	2	1186	Chain	ID=PRO_0000075917;Note=Pumilio homolog 1
Q14671	996	1038	828	1168	Domain	Note=PUM-HD;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00318
Q14671	996	1038	997	1001	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1IB2
Q14671	996	1038	1006	1016	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1IB2
Q14671	996	1038	1019	1031	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1IB2
Q14671	996	1038	1033	1036	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1IB2
Q14671	996	1038	1007	1011	Mutagenesis	Note=Specifically binds cytosine-nucleotide in RNA target. CRVIQ->GRVIR%2CARVIR%2CSRVIR%2CTRVIR%2CCRVIR;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:21572425;Dbxref=PMID:21572425
Q14671	996	1038	1007	1011	Mutagenesis	Note=Specifically binds guanine-nucleotide in RNA target. CRVIQ->SRVIE;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:21572425;Dbxref=PMID:21572425
Q14671	996	1038	1007	1007	Mutagenesis	Note=Specifically binds uracil-nucleotide in RNA target. C->N;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:21572425;Dbxref=PMID:21572425
Q14671	996	1038	1033	1033	Natural variant	ID=VAR_080784;Note=In SCA47%3B results in reduced PUM1 protein levels and decreased post-transcriptional repression of E2F3 and ATXN1. T->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:29474920;Dbxref=PMID:29474920
Q14671	996	1038	1007	1011	Region	Note=Adenine-nucleotide binding in RNA target;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:18328718;Dbxref=PMID:18328718
Q14671	996	1038	992	1027	Repeat	Note=Pumilio 5;Ontology_term=ECO:0000255,ECO:0000269;evidence=ECO:0000255\|PROSITE-ProRule:PRU00317,ECO:0000269\|PubMed:21397187;Dbxref=PMID:21397187
Q14671	996	1038	1028	1063	Repeat	Note=Pumilio 6;Ontology_term=ECO:0000255,ECO:0000269;evidence=ECO:0000255\|PROSITE-ProRule:PRU00317,ECO:0000269\|PubMed:21397187;Dbxref=PMID:21397187
Q14671	996	1038	993	996	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1IB2

Top

SNVs in the skipped exons for PUM1

- Lollipop plot for presenting exon skipping associated SNVs.
* Click on the image to enlarge it in a new window.

- Differential PSIs between mutated versus non-mutated samples.

PUM1_COAD_exon_skip_23909_psi_boxplot.png
boxplot

PUM1_HNSC_exon_skip_23909_psi_boxplot.png
boxplot

PUM1_SKCM_exon_skip_23909_psi_boxplot.png
boxplot

- Non-synonymous mutations located in the skipped exons in TCGA.

Cancer type	Sample	ESID	Skipped exon start	Skipped exon end	Mutation start	Mutation end	Mutation type	Reference seq	Mutation seq	AAchange
LIHC	TCGA-G3-A3CJ-01	exon_skip_23903 exon_skip_23901 exon_skip_23904	31418193	31418330	31418315	31418315	Frame_Shift_Del	C	-	p.E958fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_23903 exon_skip_23901 exon_skip_23904	31418193	31418330	31418315	31418315	Frame_Shift_Del	C	-	p.E959fs
COAD	TCGA-G4-6628-01	exon_skip_23909	31437521	31437757	31437656	31437657	Frame_Shift_Del	TG	-	p.730_730del
LIHC	TCGA-DD-A3A0-01		31478700	31478878	31478731	31478731	Frame_Shift_Del	G	-	p.P230fs
HNSC	TCGA-CX-A4AQ-01		31478700	31478878	31478756	31478774	Frame_Shift_Del	CCATGCTAACGCCTAGTCC	-	p.GLGVSMV216fs
COAD	TCGA-G4-6628-01	exon_skip_23938 exon_skip_23932	31501643	31501711	31501679	31501679	Frame_Shift_Del	A	-	p.Q133fs
LIHC	TCGA-DD-A39Y-01	exon_skip_23942	31532051	31532424	31532130	31532130	Frame_Shift_Del	C	-	p.G97fs
LIHC	TCGA-DD-A3A0-01	exon_skip_23942	31532051	31532424	31532130	31532130	Frame_Shift_Del	C	-	p.G97fs
UCEC	TCGA-AP-A0LI-01	exon_skip_23942	31532051	31532424	31532174	31532216	Frame_Shift_Del	CATAGCGTCGTCCTGGGAACGGCCTGCAACTCCTATAGATCCT	-	p.P66fs
UCEC	TCGA-AP-A0LI-01	exon_skip_23943	31532146	31532424	31532174	31532216	Frame_Shift_Del	CATAGCGTCGTCCTGGGAACGGCCTGCAACTCCTATAGATCCT	-	p.P66fs
LIHC	TCGA-DD-A39Y-01	exon_skip_23942	31532051	31532424	31532353	31532353	Frame_Shift_Del	G	-	p.H21fs
LIHC	TCGA-DD-A39Y-01	exon_skip_23943	31532146	31532424	31532353	31532353	Frame_Shift_Del	G	-	p.H21fs
LIHC	TCGA-DD-A3A0-01	exon_skip_23942	31532051	31532424	31532353	31532353	Frame_Shift_Del	G	-	p.H21fs
LIHC	TCGA-DD-A3A0-01	exon_skip_23943	31532146	31532424	31532353	31532353	Frame_Shift_Del	G	-	p.H21fs
HNSC	TCGA-CQ-6222-01	exon_skip_23909	31437521	31437757	31437649	31437650	Frame_Shift_Ins	-	A	p.*733fs
UCEC	TCGA-AP-A0LM-01		31478700	31478878	31478708	31478708	Nonsense_Mutation	C	A	p.G238*
CESC	TCGA-JW-A5VL-01		31478700	31478878	31478834	31478834	Nonsense_Mutation	G	A	p.Q196*
STAD	TCGA-BR-6452-01	exon_skip_23930	31479841	31479949	31479866	31479866	Nonsense_Mutation	C	T	p.W172*
STAD	TCGA-BR-6452-01	exon_skip_23930	31479841	31479949	31479866	31479866	Nonsense_Mutation	C	T	p.W172X
UCEC	TCGA-B5-A11N-01	exon_skip_23930	31479841	31479949	31479913	31479913	Nonsense_Mutation	C	A	p.E157*
LUAD	TCGA-69-7978-01	exon_skip_23938 exon_skip_23932	31501643	31501711	31501678	31501678	Nonsense_Mutation	G	A	p.Q133*
BLCA	TCGA-DK-A6B6-01	exon_skip_23942	31532051	31532424	31532158	31532158	Nonsense_Mutation	G	A	p.Q86*
BLCA	TCGA-DK-A6B6-01	exon_skip_23943	31532146	31532424	31532158	31532158	Nonsense_Mutation	G	A	p.Q86*
BLCA	TCGA-XF-AAML-01	exon_skip_23942	31532051	31532424	31532158	31532158	Nonsense_Mutation	G	A	p.Q86*
BLCA	TCGA-XF-AAML-01	exon_skip_23943	31532146	31532424	31532158	31532158	Nonsense_Mutation	G	A	p.Q86*
SKCM	TCGA-EB-A42Y-01	exon_skip_23909	31437521	31437757	31437519	31437519	Splice_Site	A	C	.
UCEC	TCGA-D1-A16F-01	exon_skip_23921	31454159	31454252	31454254	31454254	Splice_Site	T	C	e7-2
BLCA	TCGA-CU-A3KJ-01		31478700	31478878	31478699	31478699	Splice_Site	C	T	p.F240_splice

- Depth of coverage in the three exons composing exon skipping event

Depth of coverage in three exons	Mutation description
	Sample: TCGA-BR-6452-01
	Cancer type: STAD
	ESID: exon_skip_23930
	Skipped exon start: 31479841
	Skipped exon end: 31479949
	Mutation start: 31479866
	Mutation end: 31479866
	Mutation type: Nonsense_Mutation
	Reference seq: C
	Mutation seq: T
	AAchange: p.W172X
	Sample: TCGA-BR-6452-01
	Cancer type: STAD
	ESID: exon_skip_23930
	Skipped exon start: 31479841
	Skipped exon end: 31479949
	Mutation start: 31479866
	Mutation end: 31479866
	Mutation type: Nonsense_Mutation
	Reference seq: C
	Mutation seq: T
	AAchange: p.W172*
exon_skip_106795_STAD_TCGA-BR-6452-01.png
exon_skip_108765_STAD_TCGA-BR-6452-01.png
exon_skip_108766_STAD_TCGA-BR-6452-01.png
exon_skip_121160_STAD_TCGA-BR-6452-01.png
exon_skip_23930_STAD_TCGA-BR-6452-01.png
exon_skip_285856_STAD_TCGA-BR-6452-01.png
exon_skip_287166_STAD_TCGA-BR-6452-01.png
exon_skip_289814_STAD_TCGA-BR-6452-01.png
exon_skip_294522_STAD_TCGA-BR-6452-01.png
exon_skip_306852_STAD_TCGA-BR-6452-01.png
exon_skip_32096_STAD_TCGA-BR-6452-01.png
exon_skip_323984_STAD_TCGA-BR-6452-01.png
exon_skip_328488_STAD_TCGA-BR-6452-01.png
exon_skip_346425_STAD_TCGA-BR-6452-01.png
exon_skip_346426_STAD_TCGA-BR-6452-01.png
exon_skip_346508_STAD_TCGA-BR-6452-01.png
exon_skip_363933_STAD_TCGA-BR-6452-01.png
exon_skip_36702_STAD_TCGA-BR-6452-01.png
exon_skip_374468_STAD_TCGA-BR-6452-01.png
exon_skip_374469_STAD_TCGA-BR-6452-01.png
exon_skip_3814_STAD_TCGA-BR-6452-01.png
exon_skip_3815_STAD_TCGA-BR-6452-01.png
exon_skip_38648_STAD_TCGA-BR-6452-01.png
exon_skip_42656_STAD_TCGA-BR-6452-01.png
exon_skip_434406_STAD_TCGA-BR-6452-01.png
exon_skip_450406_STAD_TCGA-BR-6452-01.png
exon_skip_489149_STAD_TCGA-BR-6452-01.png
exon_skip_495200_STAD_TCGA-BR-6452-01.png
exon_skip_496317_STAD_TCGA-BR-6452-01.png
exon_skip_503611_STAD_TCGA-BR-6452-01.png
exon_skip_515792_STAD_TCGA-BR-6452-01.png
exon_skip_516330_STAD_TCGA-BR-6452-01.png
exon_skip_98550_STAD_TCGA-BR-6452-01.png
	Sample: TCGA-EB-A42Y-01
	Cancer type: SKCM
	ESID: exon_skip_23909
	Skipped exon start: 31437521
	Skipped exon end: 31437757
	Mutation start: 31437519
	Mutation end: 31437519
	Mutation type: Splice_Site
	Reference seq: A
	Mutation seq: C
	AAchange: .
exon_skip_23909_SKCM_TCGA-EB-A42Y-01.png

- Non-synonymous mutations located in the skipped exons in CCLE.

Sample	Skipped exon start	Skipped exon end	Mutation start	Mutation end	Mutation type	Reference seq	Mutation seq	AAchange
HEC59_ENDOMETRIUM	31532051	31532424	31532130	31532130	Frame_Shift_Del	C	-	p.G97fs
DANG_PANCREAS	31440014	31440157	31440064	31440111	In_Frame_Del	CGAACAGGAGCTCCAAGACCATTTCTCGCGCCTGCATTCACTACAAGG	-	p.LVVNAGARNGLGAPVR565del
DANG_PANCREAS	31439946	31440157	31440064	31440111	In_Frame_Del	CGAACAGGAGCTCCAAGACCATTTCTCGCGCCTGCATTCACTACAAGG	-	p.LVVNAGARNGLGAPVR565del
GEO_LARGE_INTESTINE	31532051	31532424	31532156	31532173	In_Frame_Del	CTGAAAGAAGTAGTCCAC	-	p.VDYFFQ81del
GEO_LARGE_INTESTINE	31532146	31532424	31532156	31532173	In_Frame_Del	CTGAAAGAAGTAGTCCAC	-	p.VDYFFQ81del
SNU175_LARGE_INTESTINE	31418193	31418330	31418235	31418235	Missense_Mutation	C	A	p.Q982H
MESSA_SOFT_TISSUE	31418193	31418330	31418256	31418256	Missense_Mutation	C	G	p.Q975H
HCC1428_BREAST	31418193	31418330	31418277	31418277	Missense_Mutation	C	G	p.Q968H
EFO21_OVARY	31418193	31418330	31418327	31418327	Missense_Mutation	C	T	p.E952K
MEWO_SKIN	31437521	31437757	31437541	31437541	Missense_Mutation	G	A	p.S768F
SNU175_LARGE_INTESTINE	31437521	31437757	31437565	31437565	Missense_Mutation	G	T	p.P760H
NCIH2347_LUNG	31437521	31437757	31437625	31437625	Missense_Mutation	G	C	p.S740C
BICR18_UPPER_AERODIGESTIVE_TRACT	31437521	31437757	31437634	31437634	Missense_Mutation	A	T	p.F737Y
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	31437521	31437757	31437634	31437634	Missense_Mutation	A	T	p.F737Y
OCIAML5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	31437521	31437757	31437634	31437634	Missense_Mutation	A	T	p.F737Y
BICR18_UPPER_AERODIGESTIVE_TRACT	31437521	31437757	31437644	31437644	Missense_Mutation	C	T	p.G734S
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	31437521	31437757	31437644	31437644	Missense_Mutation	C	T	p.G734S
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	31437521	31437757	31437646	31437646	Missense_Mutation	T	C	p.N733S
BICR18_UPPER_AERODIGESTIVE_TRACT	31437521	31437757	31437646	31437646	Missense_Mutation	T	C	p.N733S
BICR18_UPPER_AERODIGESTIVE_TRACT	31437521	31437757	31437671	31437671	Missense_Mutation	T	C	p.T725A
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	31437521	31437757	31437671	31437671	Missense_Mutation	T	C	p.T725A
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	31437521	31437757	31437699	31437699	Missense_Mutation	G	T	p.D715E
CCK81_LARGE_INTESTINE	31440014	31440157	31440092	31440092	Missense_Mutation	C	T	p.A571T
CCK81_LARGE_INTESTINE	31439946	31440157	31440092	31440092	Missense_Mutation	C	T	p.A571T
CL34_LARGE_INTESTINE	31440014	31440157	31440113	31440113	Missense_Mutation	C	T	p.A564T
CL34_LARGE_INTESTINE	31439946	31440157	31440113	31440113	Missense_Mutation	C	T	p.A564T
KE39_STOMACH	31452909	31453013	31453002	31453002	Missense_Mutation	G	A	p.P421S
KE39_STOMACH	31452909	31453010	31453002	31453002	Missense_Mutation	G	A	p.P421S
KE39_STOMACH	31452909	31453025	31453002	31453002	Missense_Mutation	G	A	p.P421S
JHUEM7_ENDOMETRIUM	31452909	31453013	31453005	31453005	Missense_Mutation	C	A	p.A420S
JHUEM7_ENDOMETRIUM	31452909	31453010	31453005	31453005	Missense_Mutation	C	A	p.A420S
JHUEM7_ENDOMETRIUM	31452909	31453025	31453005	31453005	Missense_Mutation	C	A	p.A420S
22RV1_PROSTATE	31454159	31454252	31454172	31454172	Missense_Mutation	A	C	p.H413Q
SNU1040_LARGE_INTESTINE	31467901	31468067	31468009	31468009	Missense_Mutation	G	A	p.T260M
OSC19_UPPER_AERODIGESTIVE_TRACT	31467901	31468067	31468058	31468058	Missense_Mutation	C	A	p.D244Y
JHUEM7_ENDOMETRIUM	31479841	31479949	31479934	31479934	Missense_Mutation	T	C	p.K150E
NCIH630_LARGE_INTESTINE	31532051	31532424	31532084	31532085	Missense_Mutation	CC	AA	p.W110F
BICR18_UPPER_AERODIGESTIVE_TRACT	31532051	31532424	31532100	31532100	Missense_Mutation	T	G	p.N105T
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	31532051	31532424	31532100	31532100	Missense_Mutation	T	G	p.N105T
NCIH847_LUNG	31532051	31532424	31532130	31532130	Missense_Mutation	C	T	p.G95E
REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	31532051	31532424	31532206	31532206	Missense_Mutation	C	T	p.G70R
REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	31532146	31532424	31532206	31532206	Missense_Mutation	C	T	p.G70R
CORL23_LUNG	31532051	31532424	31532238	31532238	Missense_Mutation	C	T	p.G59E
CORL23_LUNG	31532146	31532424	31532238	31532238	Missense_Mutation	C	T	p.G59E
A204_SOFT_TISSUE	31532051	31532424	31532248	31532248	Missense_Mutation	G	A	p.L56F
A204_SOFT_TISSUE	31532146	31532424	31532248	31532248	Missense_Mutation	G	A	p.L56F
TTC642_SOFT_TISSUE	31532051	31532424	31532248	31532248	Missense_Mutation	G	A	p.L56F
TTC642_SOFT_TISSUE	31532146	31532424	31532248	31532248	Missense_Mutation	G	A	p.L56F
BICR16_UPPER_AERODIGESTIVE_TRACT	31414769	31414970	31414937	31414937	Nonsense_Mutation	G	A	p.R1008*
BICR16_UPPER_AERODIGESTIVE_TRACT	31414845	31414970	31414937	31414937	Nonsense_Mutation	G	A	p.R1008*
OCILY3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	31414769	31414970	31414937	31414937	Nonsense_Mutation	G	A	p.R1008*
OCILY3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	31414845	31414970	31414937	31414937	Nonsense_Mutation	G	A	p.R1008*
HEC108_ENDOMETRIUM	31478700	31478878	31478789	31478789	Nonsense_Mutation	G	A	p.R211*
SNU1040_LARGE_INTESTINE	31479841	31479949	31479889	31479889	Nonsense_Mutation	C	A	p.G165*
SNU81_LARGE_INTESTINE	31479841	31479949	31479889	31479889	Nonsense_Mutation	C	A	p.G165*
BICR18_UPPER_AERODIGESTIVE_TRACT	31452909	31453013	31452910	31452910	Splice_Site	T	G	p.L451L
BICR18_UPPER_AERODIGESTIVE_TRACT	31452909	31453010	31452910	31452910	Splice_Site	T	G	p.L451L
BICR18_UPPER_AERODIGESTIVE_TRACT	31452909	31453025	31452910	31452910	Splice_Site	T	G	p.L451L
MCC13_SKIN	31454159	31454252	31454158	31454159	Splice_Site	CC	TT	p.G418N
MCC13_SKIN	31454159	31454252	31454159	31454159	Splice_Site	C	T	p.G418S

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PUM1

sQTL information located at the skipped exons.

Exon skip ID

Chromosome

Three exons

Skippped exon

ENST

Cancer type

SNP id

Location

DNA change (ref/var)

P-value

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PUM1

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PUM1

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RelatedDrugs for PUM1

Approved drugs targeting this gene.
(DrugBank Version 5.1.0 2018-04-02)

Gene

UniProtAcc

DrugBank ID

Drug name

Drug activity

Drug type

Drug status

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RelatedDiseases for PUM1

Diseases associated with this gene.
(DisGeNet 4.0)

Gene

Disease ID

Disease name

# pubmeds

Source

	Gene summary
	Gene structures and expression levels
	Exon skipping events with PSIs in TCGA
	Exon skipping events with PSIs in GTEx
	Open reading frame (ORF) annotation in the exon skipping event
	Exon skipping events in the canonical protein sequence
	SNVs in the skipped exons with depth of coverage
	Splicing Quantitative Trait Loci (sQTLs) in the skipped exons
	Splicing Quantitative Trait Methylation (sQTM) in the skipped exon
	Related drugs with this gene
	Related diseases with this gene

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