ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for PCM1

Gene summary

Gene information	Gene symbol	PCM1
	Gene ID	5108
	Gene name	pericentriolar material 1
	Synonyms	PTC4\|RET/PCM-1
	Cytomap	8p22
	Type of gene	protein-coding
	Description	pericentriolar material 1 proteinPCM-1hPCM-1pericentriolar material 1, PCM1
	Modification date	20180523
	UniProtAcc	Q15154
	Context	PubMed: PCM1 [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

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Exon skipping events across known transcript of Ensembl for PCM1 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 PCM1

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 PCM1

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_481438	8	17780536:17780697:17782221:17782289:17792214:17792367	17782221:17782289	ENSG00000078674.13	ENST00000518936.1
exon_skip_481439	8	17780536:17780697:17782221:17782289:17793097:17793215	17782221:17782289	ENSG00000078674.13	ENST00000517730.1,ENST00000519253.1,ENST00000518537.1
exon_skip_481444	8	17780536:17780697:17793097:17793215:17794642:17794830	17793097:17793215	ENSG00000078674.13	ENST00000523055.1
exon_skip_481449	8	17782252:17782289:17792214:17792367:17793097:17793215	17792214:17792367	ENSG00000078674.13	ENST00000518936.1
exon_skip_481453	8	17782252:17782289:17793097:17793215:17794642:17794830	17793097:17793215	ENSG00000078674.13	ENST00000517730.1,ENST00000519253.1,ENST00000325083.8,ENST00000524226.1,ENST00000518537.1
exon_skip_481458	8	17792214:17792367:17793097:17793215:17794642:17794830	17793097:17793215	ENSG00000078674.13	ENST00000518936.1
exon_skip_481460	8	17796248:17796518:17797199:17797370:17804694:17804872	17797199:17797370	ENSG00000078674.13	ENST00000519253.1,ENST00000325083.8,ENST00000524226.1,ENST00000523055.1
exon_skip_481464	8	17797317:17797370:17797550:17797667:17804694:17804872	17797550:17797667	ENSG00000078674.13	ENST00000517730.1,ENST00000518537.1
exon_skip_481467	8	17804694:17804872:17808123:17808233:17810478:17810544	17808123:17808233	ENSG00000078674.13	ENST00000517730.1,ENST00000518930.1,ENST00000519253.1,ENST00000325083.8,ENST00000524226.1,ENST00000523055.1,ENST00000518537.1
exon_skip_481469	8	17810478:17810695:17812978:17813162:17814112:17814286	17812978:17813162	ENSG00000078674.13	ENST00000517730.1,ENST00000519253.1,ENST00000325083.8,ENST00000524226.1
exon_skip_481471	8	17814112:17814286:17814772:17814930:17815048:17815284	17814772:17814930	ENSG00000078674.13	ENST00000517730.1,ENST00000519253.1,ENST00000325083.8
exon_skip_481472	8	17817823:17817953:17819542:17819683:17820609:17820800	17819542:17819683	ENSG00000078674.13	ENST00000519253.1,ENST00000325083.8,ENST00000524226.1
exon_skip_481473	8	17819542:17819683:17820609:17820800:17822076:17822277	17820609:17820800	ENSG00000078674.13	ENST00000519253.1,ENST00000325083.8,ENST00000524226.1
exon_skip_481475	8	17823507:17823727:17823836:17823982:17824488:17824679	17823836:17823982	ENSG00000078674.13	ENST00000519253.1,ENST00000325083.8,ENST00000524226.1
exon_skip_481477	8	17824488:17824679:17827085:17827257:17829837:17830151	17827085:17827257	ENSG00000078674.13	ENST00000519253.1,ENST00000325083.8,ENST00000524226.1
exon_skip_481482	8	17830181:17830196:17838099:17838264:17840741:17840790	17838099:17838264	ENSG00000078674.13	ENST00000522275.1,ENST00000327578.8
exon_skip_481483	8	17830181:17830196:17838099:17838264:17842955:17843128	17838099:17838264	ENSG00000078674.13	ENST00000519253.1,ENST00000325083.8
exon_skip_481486	8	17837729:17838264:17840048:17840146:17840741:17840790	17840048:17840146	ENSG00000078674.13	ENST00000522777.1
exon_skip_481487	8	17838099:17838264:17840741:17840798:17842955:17843128	17840741:17840798	ENSG00000078674.13	ENST00000522275.1,ENST00000327578.8
exon_skip_481488	8	17842955:17843128:17843467:17843596:17847367:17847488	17843467:17843596	ENSG00000078674.13	ENST00000519253.1,ENST00000522275.1,ENST00000327578.8,ENST00000325083.8,ENST00000524226.1
exon_skip_481493	8	17851061:17851128:17863771:17863906:17867055:17867174	17863771:17863906	ENSG00000078674.13	ENST00000519253.1,ENST00000522275.1,ENST00000327578.8,ENST00000325083.8,ENST00000524226.1
exon_skip_481495	8	17867055:17867253:17868117:17868177:17868745:17868875	17868117:17868177	ENSG00000078674.13	ENST00000519253.1,ENST00000522275.1,ENST00000327578.8,ENST00000325083.8,ENST00000524226.1
exon_skip_481500	8	17871496:17871545:17872092:17872349:17882869:17882962	17872092:17872349	ENSG00000078674.13	ENST00000519253.1,ENST00000522275.1,ENST00000327578.8,ENST00000325083.8,ENST00000519802.1
exon_skip_481502	8	17872092:17872349:17882869:17882962:17883052:17883120	17882869:17882962	ENSG00000078674.13	ENST00000519253.1,ENST00000522275.1,ENST00000327578.8,ENST00000325083.8,ENST00000519802.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for PCM1

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_481438	8	17780536:17780697:17782221:17782289:17792214:17792367	17782221:17782289	ENSG00000078674.13	ENST00000518936.1
exon_skip_481439	8	17780536:17780697:17782221:17782289:17793097:17793215	17782221:17782289	ENSG00000078674.13	ENST00000517730.1,ENST00000518537.1,ENST00000519253.1
exon_skip_481444	8	17780536:17780697:17793097:17793215:17794642:17794830	17793097:17793215	ENSG00000078674.13	ENST00000523055.1
exon_skip_481449	8	17782252:17782289:17792214:17792367:17793097:17793215	17792214:17792367	ENSG00000078674.13	ENST00000518936.1
exon_skip_481453	8	17782252:17782289:17793097:17793215:17794642:17794830	17793097:17793215	ENSG00000078674.13	ENST00000325083.8,ENST00000517730.1,ENST00000518537.1,ENST00000519253.1,ENST00000524226.1
exon_skip_481458	8	17792214:17792367:17793097:17793215:17794642:17794830	17793097:17793215	ENSG00000078674.13	ENST00000518936.1
exon_skip_481460	8	17796248:17796518:17797199:17797370:17804694:17804872	17797199:17797370	ENSG00000078674.13	ENST00000325083.8,ENST00000523055.1,ENST00000519253.1,ENST00000524226.1
exon_skip_481464	8	17797317:17797370:17797550:17797667:17804694:17804872	17797550:17797667	ENSG00000078674.13	ENST00000517730.1,ENST00000518537.1
exon_skip_481467	8	17804694:17804872:17808123:17808233:17810478:17810544	17808123:17808233	ENSG00000078674.13	ENST00000325083.8,ENST00000518930.1,ENST00000517730.1,ENST00000518537.1,ENST00000523055.1,ENST00000519253.1,ENST00000524226.1
exon_skip_481469	8	17810478:17810695:17812978:17813162:17814112:17814286	17812978:17813162	ENSG00000078674.13	ENST00000325083.8,ENST00000517730.1,ENST00000519253.1,ENST00000524226.1
exon_skip_481471	8	17814112:17814286:17814772:17814930:17815048:17815284	17814772:17814930	ENSG00000078674.13	ENST00000325083.8,ENST00000517730.1,ENST00000519253.1
exon_skip_481472	8	17817823:17817953:17819542:17819683:17820609:17820800	17819542:17819683	ENSG00000078674.13	ENST00000325083.8,ENST00000519253.1,ENST00000524226.1
exon_skip_481473	8	17819542:17819683:17820609:17820800:17822076:17822277	17820609:17820800	ENSG00000078674.13	ENST00000325083.8,ENST00000519253.1,ENST00000524226.1
exon_skip_481475	8	17823507:17823727:17823836:17823982:17824488:17824679	17823836:17823982	ENSG00000078674.13	ENST00000325083.8,ENST00000519253.1,ENST00000524226.1
exon_skip_481477	8	17824488:17824679:17827085:17827257:17829837:17830151	17827085:17827257	ENSG00000078674.13	ENST00000325083.8,ENST00000519253.1,ENST00000524226.1
exon_skip_481482	8	17830181:17830196:17838099:17838264:17840741:17840790	17838099:17838264	ENSG00000078674.13	ENST00000522275.1,ENST00000327578.8
exon_skip_481483	8	17830181:17830196:17838099:17838264:17842955:17843128	17838099:17838264	ENSG00000078674.13	ENST00000325083.8,ENST00000519253.1
exon_skip_481486	8	17837729:17838264:17840048:17840146:17840741:17840790	17840048:17840146	ENSG00000078674.13	ENST00000522777.1
exon_skip_481487	8	17838099:17838264:17840741:17840798:17842955:17843128	17840741:17840798	ENSG00000078674.13	ENST00000522275.1,ENST00000327578.8
exon_skip_481488	8	17842955:17843128:17843467:17843596:17847367:17847488	17843467:17843596	ENSG00000078674.13	ENST00000325083.8,ENST00000519253.1,ENST00000524226.1,ENST00000522275.1,ENST00000327578.8
exon_skip_481493	8	17851061:17851128:17863771:17863906:17867055:17867174	17863771:17863906	ENSG00000078674.13	ENST00000325083.8,ENST00000519253.1,ENST00000524226.1,ENST00000522275.1,ENST00000327578.8
exon_skip_481495	8	17867055:17867253:17868117:17868177:17868745:17868875	17868117:17868177	ENSG00000078674.13	ENST00000325083.8,ENST00000519253.1,ENST00000524226.1,ENST00000522275.1,ENST00000327578.8
exon_skip_481500	8	17871496:17871545:17872092:17872349:17882869:17882962	17872092:17872349	ENSG00000078674.13	ENST00000325083.8,ENST00000519253.1,ENST00000522275.1,ENST00000327578.8,ENST00000519802.1
exon_skip_481502	8	17872092:17872349:17882869:17882962:17883052:17883120	17882869:17882962	ENSG00000078674.13	ENST00000325083.8,ENST00000519253.1,ENST00000522275.1,ENST00000327578.8,ENST00000519802.1

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 PCM1

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
ENST00000325083	17793097	17793215	5CDS-5UTR
ENST00000325083	17808123	17808233	Frame-shift
ENST00000325083	17812978	17813162	Frame-shift
ENST00000325083	17814772	17814930	Frame-shift
ENST00000325083	17820609	17820800	Frame-shift
ENST00000325083	17823836	17823982	Frame-shift
ENST00000325083	17827085	17827257	Frame-shift
ENST00000325083	17872092	17872349	Frame-shift
ENST00000325083	17797199	17797370	In-frame
ENST00000325083	17819542	17819683	In-frame
ENST00000325083	17838099	17838264	In-frame
ENST00000325083	17843467	17843596	In-frame
ENST00000325083	17863771	17863906	In-frame
ENST00000325083	17868117	17868177	In-frame
ENST00000325083	17882869	17882962	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
ENST00000325083	17793097	17793215	5CDS-5UTR
ENST00000325083	17808123	17808233	Frame-shift
ENST00000325083	17812978	17813162	Frame-shift
ENST00000325083	17814772	17814930	Frame-shift
ENST00000325083	17820609	17820800	Frame-shift
ENST00000325083	17823836	17823982	Frame-shift
ENST00000325083	17827085	17827257	Frame-shift
ENST00000325083	17872092	17872349	Frame-shift
ENST00000325083	17797199	17797370	In-frame
ENST00000325083	17819542	17819683	In-frame
ENST00000325083	17838099	17838264	In-frame
ENST00000325083	17843467	17843596	In-frame
ENST00000325083	17863771	17863906	In-frame
ENST00000325083	17868117	17868177	In-frame
ENST00000325083	17882869	17882962	In-frame

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Infer the effects of exon skipping event on protein functional features for PCM1

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
ENST00000325083	6837	2024	17797199	17797370	1052	1222	204	261
ENST00000325083	6837	2024	17819542	17819683	2762	2902	774	821
ENST00000325083	6837	2024	17838099	17838264	4383	4547	1314	1369
ENST00000325083	6837	2024	17843467	17843596	4721	4849	1427	1470
ENST00000325083	6837	2024	17863771	17863906	5267	5401	1609	1654
ENST00000325083	6837	2024	17868117	17868177	5600	5659	1720	1740
ENST00000325083	6837	2024	17882869	17882962	6281	6373	1947	1978

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
ENST00000325083	6837	2024	17797199	17797370	1052	1222	204	261
ENST00000325083	6837	2024	17819542	17819683	2762	2902	774	821
ENST00000325083	6837	2024	17838099	17838264	4383	4547	1314	1369
ENST00000325083	6837	2024	17843467	17843596	4721	4849	1427	1470
ENST00000325083	6837	2024	17863771	17863906	5267	5401	1609	1654
ENST00000325083	6837	2024	17868117	17868177	5600	5659	1720	1740
ENST00000325083	6837	2024	17882869	17882962	6281	6373	1947	1978

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

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

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SNVs in the skipped exons for PCM1

- 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.

PCM1_ESCA_exon_skip_481464_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
BLCA	TCGA-FD-A5BU-01	exon_skip_481472	17819543	17819683	17819560	17819561	Frame_Shift_Del	GG	-	p.G781fs
COAD	TCGA-AY-6197-01	exon_skip_481472	17819543	17819683	17819576	17819576	Frame_Shift_Del	A	-	p.T785fs
LIHC	TCGA-DD-A1EG-01	exon_skip_481493	17863772	17863906	17863827	17863827	Frame_Shift_Del	T	-	p.V1628fs
BLCA	TCGA-G2-A3IB-01	exon_skip_481495	17868118	17868177	17868136	17868137	Frame_Shift_Ins	-	TC	p.D1727fs
GBM	TCGA-06-0192-01	exon_skip_481500	17872093	17872349	17872225	17872226	Frame_Shift_Ins	-	A	p.L1945fs
UCEC	TCGA-AX-A0J1-01	exon_skip_481475	17823837	17823982	17823962	17823962	Nonsense_Mutation	G	A	p.W1067*
BRCA	TCGA-AO-A0JD-01	exon_skip_481500	17872093	17872349	17872349	17872349	Nonsense_Mutation	T	G	p.Y1947*
ESCA	TCGA-VR-A8EX-01	exon_skip_481464	17797551	17797667	17797549	17797549	Splice_Site	A	G	e5-2
STAD	TCGA-VQ-A8P2-01		17838100	17838264	17838265	17838265	Splice_Site	G	T	.

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

Depth of coverage in three exons	Mutation description
	Sample: TCGA-VQ-A8P2-01
	Cancer type: STAD
	ESID:
	Skipped exon start: 17838100
	Skipped exon end: 17838264
	Mutation start: 17838265
	Mutation end: 17838265
	Mutation type: Splice_Site
	Reference seq: G
	Mutation seq: T
	AAchange: .
exon_skip_102588_STAD_TCGA-VQ-A8P2-01.png
exon_skip_122541_STAD_TCGA-VQ-A8P2-01.png
exon_skip_128780_STAD_TCGA-VQ-A8P2-01.png
exon_skip_143382_STAD_TCGA-VQ-A8P2-01.png
exon_skip_143383_STAD_TCGA-VQ-A8P2-01.png
exon_skip_148114_STAD_TCGA-VQ-A8P2-01.png
exon_skip_287192_STAD_TCGA-VQ-A8P2-01.png
exon_skip_291811_STAD_TCGA-VQ-A8P2-01.png
exon_skip_320689_STAD_TCGA-VQ-A8P2-01.png
exon_skip_320690_STAD_TCGA-VQ-A8P2-01.png
exon_skip_328488_STAD_TCGA-VQ-A8P2-01.png
exon_skip_356820_STAD_TCGA-VQ-A8P2-01.png
exon_skip_356824_STAD_TCGA-VQ-A8P2-01.png
exon_skip_375393_STAD_TCGA-VQ-A8P2-01.png
exon_skip_381459_STAD_TCGA-VQ-A8P2-01.png
exon_skip_3837_STAD_TCGA-VQ-A8P2-01.png
exon_skip_387613_STAD_TCGA-VQ-A8P2-01.png
exon_skip_431990_STAD_TCGA-VQ-A8P2-01.png
exon_skip_440277_STAD_TCGA-VQ-A8P2-01.png
exon_skip_443275_STAD_TCGA-VQ-A8P2-01.png
exon_skip_448545_STAD_TCGA-VQ-A8P2-01.png
exon_skip_470847_STAD_TCGA-VQ-A8P2-01.png
exon_skip_481483_STAD_TCGA-VQ-A8P2-01.png
exon_skip_5195_STAD_TCGA-VQ-A8P2-01.png
exon_skip_5826_STAD_TCGA-VQ-A8P2-01.png
exon_skip_74538_STAD_TCGA-VQ-A8P2-01.png
exon_skip_91142_STAD_TCGA-VQ-A8P2-01.png
exon_skip_91143_STAD_TCGA-VQ-A8P2-01.png
	Sample: TCGA-VR-A8EX-01
	Cancer type: ESCA
	ESID: exon_skip_481464
	Skipped exon start: 17797551
	Skipped exon end: 17797667
	Mutation start: 17797549
	Mutation end: 17797549
	Mutation type: Splice_Site
	Reference seq: A
	Mutation seq: G
	AAchange: e5-2
exon_skip_356468_ESCA_TCGA-VR-A8EX-01.png
exon_skip_481464_ESCA_TCGA-VR-A8EX-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
HCC2450_LUNG	17812979	17813162	17813018	17813039	Frame_Shift_Del	CTCCCTCTGCTTCTGTAGGCTT	-	p.APSASVGL443fs
NBSUSSR_AUTONOMIC_GANGLIA	17793098	17793215	17793139	17793139	Missense_Mutation	C	T	p.P7L
HEC265_ENDOMETRIUM	17793098	17793215	17793153	17793153	Missense_Mutation	A	G	p.M12V
KG1C_CENTRAL_NERVOUS_SYSTEM	17793098	17793215	17793153	17793153	Missense_Mutation	A	G	p.M12V
HEC108_ENDOMETRIUM	17793098	17793215	17793181	17793181	Missense_Mutation	G	A	p.S21N
A704_KIDNEY	17793098	17793215	17793200	17793200	Missense_Mutation	C	A	p.D27E
PC9_LUNG	17797551	17797667	17797599	17797599	Missense_Mutation	G	A	p.G278R
LOVO_LARGE_INTESTINE	17797551	17797667	17797621	17797621	Missense_Mutation	G	A	p.S285N
SNGM_ENDOMETRIUM	17797551	17797667	17797627	17797627	Missense_Mutation	C	T	p.S287L
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	17797551	17797667	17797635	17797636	Missense_Mutation	AT	GC	p.I290A
BICR18_UPPER_AERODIGESTIVE_TRACT	17797551	17797667	17797635	17797635	Missense_Mutation	A	G	p.I290V
BICR18_UPPER_AERODIGESTIVE_TRACT	17797551	17797667	17797636	17797636	Missense_Mutation	T	C	p.I290T
OC316_OVARY	17797551	17797667	17797652	17797652	Missense_Mutation	G	T	p.E295D
OC314_OVARY	17797551	17797667	17797652	17797652	Missense_Mutation	G	T	p.E295D
BC3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	17812979	17813162	17813078	17813078	Missense_Mutation	C	T	p.S463L
GP5D_LARGE_INTESTINE	17812979	17813162	17813156	17813156	Missense_Mutation	A	G	p.K489R
OUMS23_LARGE_INTESTINE	17814773	17814930	17814900	17814900	Missense_Mutation	A	T	p.I592L
MOTN1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	17819543	17819683	17819562	17819562	Missense_Mutation	G	C	p.G781A
CORL23_LUNG	17819543	17819683	17819610	17819610	Missense_Mutation	C	T	p.T797I
MOLT16_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	17819543	17819683	17819624	17819624	Missense_Mutation	G	A	p.E802K
HT115_LARGE_INTESTINE	17820610	17820800	17820656	17820656	Missense_Mutation	G	A	p.R837Q
PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	17820610	17820800	17820713	17820714	Missense_Mutation	TA	CT	p.L856P
PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	17820610	17820800	17820713	17820713	Missense_Mutation	T	C	p.L856P
C33A_CERVIX	17820610	17820800	17820779	17820779	Missense_Mutation	C	T	p.P878L
TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	17820610	17820800	17820790	17820790	Missense_Mutation	A	G	p.R882G
SKGIIIA_CERVIX	17820610	17820800	17820790	17820790	Missense_Mutation	A	G	p.R882G
HEC59_ENDOMETRIUM	17823837	17823982	17823868	17823868	Missense_Mutation	C	T	p.T1036M
SNU81_LARGE_INTESTINE	17827086	17827257	17827116	17827116	Missense_Mutation	A	C	p.N1148T
HS944T_SKIN	17827086	17827257	17827218	17827218	Missense_Mutation	C	A	p.P1182H
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	17838100	17838264	17838117	17838117	Missense_Mutation	A	G	p.M1321V
BICR18_UPPER_AERODIGESTIVE_TRACT	17838100	17838264	17838117	17838117	Missense_Mutation	A	G	p.M1321V
SET2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	17838100	17838264	17838123	17838123	Missense_Mutation	A	G	p.S1323G
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	17838100	17838264	17838145	17838145	Missense_Mutation	G	A	p.S1330N
BICR18_UPPER_AERODIGESTIVE_TRACT	17838100	17838264	17838145	17838145	Missense_Mutation	G	A	p.S1330N
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	17838100	17838264	17838192	17838192	Missense_Mutation	G	T	p.V1346L
BICR18_UPPER_AERODIGESTIVE_TRACT	17838100	17838264	17838192	17838192	Missense_Mutation	G	T	p.V1346L
AGS_STOMACH	17838100	17838264	17838214	17838214	Missense_Mutation	A	G	p.E1353G
COLO783_SKIN	17863772	17863906	17863780	17863780	Missense_Mutation	G	A	p.M1604I
KPMRTRY_SOFT_TISSUE	17868118	17868177	17868155	17868155	Missense_Mutation	G	C	p.G1725A
LU139_LUNG	17868118	17868177	17868161	17868161	Missense_Mutation	T	C	p.I1727T
SNU1040_LARGE_INTESTINE	17872093	17872349	17872111	17872111	Missense_Mutation	C	A	p.P1860H
HUH28_BILIARY_TRACT	17872093	17872349	17872198	17872198	Missense_Mutation	C	T	p.S1889L
MPP89_PLEURA	17872093	17872349	17872228	17872228	Missense_Mutation	G	C	p.R1899P
EW24_BONE	17872093	17872349	17872273	17872273	Missense_Mutation	A	T	p.K1914I
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	17872093	17872349	17872333	17872333	Missense_Mutation	T	C	p.V1934A
GP5D_LARGE_INTESTINE	17872093	17872349	17872336	17872336	Missense_Mutation	T	C	p.L1935S
TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	17812979	17813162	17813113	17813113	Nonsense_Mutation	C	T	p.Q475*
BICR18_UPPER_AERODIGESTIVE_TRACT	17827086	17827257	17827087	17827087	Splice_Site	T	A	p.G1138G

Top

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PCM1

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
exon_skip_481453	8	17782252:17782289:17793097:17793215:17794642:17794830	17793097:17793215	ENST00000517730.1,ENST00000519253.1,ENST00000325083.8,ENST00000524226.1,ENST00000518537.1	COAD	rs445422	chr8:17793093	C/T	2.07e-05
exon_skip_481453	8	17782252:17782289:17793097:17793215:17794642:17794830	17793097:17793215	ENST00000517730.1,ENST00000519253.1,ENST00000325083.8,ENST00000524226.1,ENST00000518537.1	SARC	rs445422	chr8:17793093	C/T	1.70e-04
exon_skip_481453	8	17782252:17782289:17793097:17793215:17794642:17794830	17793097:17793215	ENST00000517730.1,ENST00000519253.1,ENST00000325083.8,ENST00000524226.1,ENST00000518537.1	THCA	rs445422	chr8:17793093	C/T	1.24e-10
exon_skip_481458	8	17792214:17792367:17793097:17793215:17794642:17794830	17793097:17793215	ENST00000518936.1	COAD	rs445422	chr8:17793093	C/T	2.07e-05
exon_skip_481458	8	17792214:17792367:17793097:17793215:17794642:17794830	17793097:17793215	ENST00000518936.1	SARC	rs445422	chr8:17793093	C/T	1.70e-04
exon_skip_481458	8	17792214:17792367:17793097:17793215:17794642:17794830	17793097:17793215	ENST00000518936.1	THCA	rs445422	chr8:17793093	C/T	1.24e-10
exon_skip_481444	8	17780536:17780697:17793097:17793215:17794642:17794830	17793097:17793215	ENST00000523055.1	COAD	rs445422	chr8:17793093	C/T	2.07e-05
exon_skip_481444	8	17780536:17780697:17793097:17793215:17794642:17794830	17793097:17793215	ENST00000523055.1	SARC	rs445422	chr8:17793093	C/T	1.70e-04
exon_skip_481444	8	17780536:17780697:17793097:17793215:17794642:17794830	17793097:17793215	ENST00000523055.1	THCA	rs445422	chr8:17793093	C/T	1.24e-10
exon_skip_481472	8	17817823:17817953:17819542:17819683:17820609:17820800	17819542:17819683	ENST00000519253.1,ENST00000325083.8,ENST00000524226.1	CESC	rs3780103	chr8:17819572	C/T	1.06e-03
exon_skip_481472	8	17817823:17817953:17819542:17819683:17820609:17820800	17819542:17819683	ENST00000519253.1,ENST00000325083.8,ENST00000524226.1	CESC	rs3780103	chr8:17819572	C/T	1.06e-03
exon_skip_481472	8	17817823:17817953:17819542:17819683:17820609:17820800	17819542:17819683	ENST00000519253.1,ENST00000325083.8,ENST00000524226.1	HNSC	rs3780103	chr8:17819572	C/T	1.56e-03
exon_skip_481472	8	17817823:17817953:17819542:17819683:17820609:17820800	17819542:17819683	ENST00000519253.1,ENST00000325083.8,ENST00000524226.1	HNSC	rs3780103	chr8:17819572	C/T	1.56e-03
exon_skip_481472	8	17817823:17817953:17819542:17819683:17820609:17820800	17819542:17819683	ENST00000519253.1,ENST00000325083.8,ENST00000524226.1	LGG	rs3780103	chr8:17819572	C/T	3.15e-05
exon_skip_481472	8	17817823:17817953:17819542:17819683:17820609:17820800	17819542:17819683	ENST00000519253.1,ENST00000325083.8,ENST00000524226.1	LGG	rs3780103	chr8:17819572	C/T	3.16e-05
exon_skip_481472	8	17817823:17817953:17819542:17819683:17820609:17820800	17819542:17819683	ENST00000519253.1,ENST00000325083.8,ENST00000524226.1	KIRC	rs3780103	chr8:17819572	C/T	5.44e-05
exon_skip_481472	8	17817823:17817953:17819542:17819683:17820609:17820800	17819542:17819683	ENST00000519253.1,ENST00000325083.8,ENST00000524226.1	KIRC	rs3780103	chr8:17819572	C/T	5.46e-05
exon_skip_481472	8	17817823:17817953:17819542:17819683:17820609:17820800	17819542:17819683	ENST00000519253.1,ENST00000325083.8,ENST00000524226.1	LUSC	rs3780103	chr8:17819572	C/T	1.75e-03
exon_skip_481472	8	17817823:17817953:17819542:17819683:17820609:17820800	17819542:17819683	ENST00000519253.1,ENST00000325083.8,ENST00000524226.1	LUSC	rs3780103	chr8:17819572	C/T	1.76e-03
exon_skip_481472	8	17817823:17817953:17819542:17819683:17820609:17820800	17819542:17819683	ENST00000519253.1,ENST00000325083.8,ENST00000524226.1	PRAD	rs3780103	chr8:17819572	C/T	2.34e-03
exon_skip_481472	8	17817823:17817953:17819542:17819683:17820609:17820800	17819542:17819683	ENST00000519253.1,ENST00000325083.8,ENST00000524226.1	PRAD	rs3780103	chr8:17819572	C/T	2.36e-03
exon_skip_481472	8	17817823:17817953:17819542:17819683:17820609:17820800	17819542:17819683	ENST00000519253.1,ENST00000325083.8,ENST00000524226.1	THCA	rs3780103	chr8:17819572	C/T	8.77e-04
exon_skip_481472	8	17817823:17817953:17819542:17819683:17820609:17820800	17819542:17819683	ENST00000519253.1,ENST00000325083.8,ENST00000524226.1	THCA	rs3780103	chr8:17819572	C/T	8.84e-04
exon_skip_481471	8	17814112:17814286:17814772:17814930:17815048:17815284	17814772:17814930	ENST00000517730.1,ENST00000519253.1,ENST00000325083.8	LUAD	rs208753	chr8:17814915	A/G	1.92e-05
exon_skip_481471	8	17814112:17814286:17814772:17814930:17815048:17815284	17814772:17814930	ENST00000517730.1,ENST00000519253.1,ENST00000325083.8	LUSC	rs208753	chr8:17814915	A/G	8.25e-04
exon_skip_481471	8	17814112:17814286:17814772:17814930:17815048:17815284	17814772:17814930	ENST00000517730.1,ENST00000519253.1,ENST00000325083.8	STAD	rs208753	chr8:17814915	A/G	1.41e-03
exon_skip_481471	8	17814112:17814286:17814772:17814930:17815048:17815284	17814772:17814930	ENST00000517730.1,ENST00000519253.1,ENST00000325083.8	THCA	rs208753	chr8:17814915	A/G	1.05e-03
exon_skip_481471	8	17814112:17814286:17814772:17814930:17815048:17815284	17814772:17814930	ENST00000517730.1,ENST00000519253.1,ENST00000325083.8	THCA	rs208753	chr8:17814915	A/G	1.07e-03
exon_skip_481477	8	17824488:17824679:17827085:17827257:17829837:17830151	17827085:17827257	ENST00000519253.1,ENST00000325083.8,ENST00000524226.1	HNSC	rs3214087	chr8:17827260	A/AC	2.60e-03
exon_skip_481477	8	17824488:17824679:17827085:17827257:17829837:17830151	17827085:17827257	ENST00000519253.1,ENST00000325083.8,ENST00000524226.1	LUAD	rs3214087	chr8:17827260	A/AC	2.58e-04
exon_skip_481477	8	17824488:17824679:17827085:17827257:17829837:17830151	17827085:17827257	ENST00000519253.1,ENST00000325083.8,ENST00000524226.1	LUSC	rs3214087	chr8:17827260	A/AC	2.04e-04
exon_skip_481477	8	17824488:17824679:17827085:17827257:17829837:17830151	17827085:17827257	ENST00000519253.1,ENST00000325083.8,ENST00000524226.1	STAD	rs3214087	chr8:17827260	A/AC	1.24e-03
exon_skip_481477	8	17824488:17824679:17827085:17827257:17829837:17830151	17827085:17827257	ENST00000519253.1,ENST00000325083.8,ENST00000524226.1	THCA	rs3214087	chr8:17827260	A/AC	5.80e-04
exon_skip_481477	8	17824488:17824679:17827085:17827257:17829837:17830151	17827085:17827257	ENST00000519253.1,ENST00000325083.8,ENST00000524226.1	THCA	rs3214087	chr8:17827260	A/AC	5.86e-04
exon_skip_481477	8	17824488:17824679:17827085:17827257:17829837:17830151	17827085:17827257	ENST00000519253.1,ENST00000325083.8,ENST00000524226.1	THCA	rs3214087	chr8:17827260	A/AC	2.92e-03
exon_skip_481473	8	17819542:17819683:17820609:17820800:17822076:17822277	17820609:17820800	ENST00000519253.1,ENST00000325083.8,ENST00000524226.1	GBM	rs6991775	chr8:17820714	A/T	6.27e-05
exon_skip_481473	8	17819542:17819683:17820609:17820800:17822076:17822277	17820609:17820800	ENST00000519253.1,ENST00000325083.8,ENST00000524226.1	GBM	rs6991775	chr8:17820714	A/T	6.27e-05
exon_skip_481473	8	17819542:17819683:17820609:17820800:17822076:17822277	17820609:17820800	ENST00000519253.1,ENST00000325083.8,ENST00000524226.1	CESC	rs6991775	chr8:17820714	A/T	6.96e-07
exon_skip_481473	8	17819542:17819683:17820609:17820800:17822076:17822277	17820609:17820800	ENST00000519253.1,ENST00000325083.8,ENST00000524226.1	CESC	rs6991775	chr8:17820714	A/T	6.96e-07
exon_skip_481473	8	17819542:17819683:17820609:17820800:17822076:17822277	17820609:17820800	ENST00000519253.1,ENST00000325083.8,ENST00000524226.1	COAD	rs6991775	chr8:17820714	A/T	1.87e-05
exon_skip_481473	8	17819542:17819683:17820609:17820800:17822076:17822277	17820609:17820800	ENST00000519253.1,ENST00000325083.8,ENST00000524226.1	COAD	rs6991775	chr8:17820714	A/T	1.88e-05
exon_skip_481473	8	17819542:17819683:17820609:17820800:17822076:17822277	17820609:17820800	ENST00000519253.1,ENST00000325083.8,ENST00000524226.1	ESCA	rs6991775	chr8:17820714	A/T	1.07e-04
exon_skip_481473	8	17819542:17819683:17820609:17820800:17822076:17822277	17820609:17820800	ENST00000519253.1,ENST00000325083.8,ENST00000524226.1	ESCA	rs6991775	chr8:17820714	A/T	1.07e-04
exon_skip_481473	8	17819542:17819683:17820609:17820800:17822076:17822277	17820609:17820800	ENST00000519253.1,ENST00000325083.8,ENST00000524226.1	HNSC	rs6991775	chr8:17820714	A/T	1.49e-05
exon_skip_481473	8	17819542:17819683:17820609:17820800:17822076:17822277	17820609:17820800	ENST00000519253.1,ENST00000325083.8,ENST00000524226.1	HNSC	rs6991775	chr8:17820714	A/T	1.50e-05
exon_skip_481473	8	17819542:17819683:17820609:17820800:17822076:17822277	17820609:17820800	ENST00000519253.1,ENST00000325083.8,ENST00000524226.1	BRCA	rs7009117	chr8:17820758	G/T	4.90e-05
exon_skip_481473	8	17819542:17819683:17820609:17820800:17822076:17822277	17820609:17820800	ENST00000519253.1,ENST00000325083.8,ENST00000524226.1	BRCA	rs7009117	chr8:17820758	G/T	4.90e-05
exon_skip_481473	8	17819542:17819683:17820609:17820800:17822076:17822277	17820609:17820800	ENST00000519253.1,ENST00000325083.8,ENST00000524226.1	BRCA	rs7009117	chr8:17820758	G/T	1.98e-03
exon_skip_481473	8	17819542:17819683:17820609:17820800:17822076:17822277	17820609:17820800	ENST00000519253.1,ENST00000325083.8,ENST00000524226.1	KIRP	rs6991775	chr8:17820714	A/T	9.05e-10
exon_skip_481473	8	17819542:17819683:17820609:17820800:17822076:17822277	17820609:17820800	ENST00000519253.1,ENST00000325083.8,ENST00000524226.1	KIRP	rs6991775	chr8:17820714	A/T	9.10e-10
exon_skip_481473	8	17819542:17819683:17820609:17820800:17822076:17822277	17820609:17820800	ENST00000519253.1,ENST00000325083.8,ENST00000524226.1	LGG	rs6991775	chr8:17820714	A/T	5.87e-15
exon_skip_481473	8	17819542:17819683:17820609:17820800:17822076:17822277	17820609:17820800	ENST00000519253.1,ENST00000325083.8,ENST00000524226.1	LGG	rs6991775	chr8:17820714	A/T	5.96e-15
exon_skip_481473	8	17819542:17819683:17820609:17820800:17822076:17822277	17820609:17820800	ENST00000519253.1,ENST00000325083.8,ENST00000524226.1	KIRC	rs6991775	chr8:17820714	A/T	1.28e-12
exon_skip_481473	8	17819542:17819683:17820609:17820800:17822076:17822277	17820609:17820800	ENST00000519253.1,ENST00000325083.8,ENST00000524226.1	KIRC	rs6991775	chr8:17820714	A/T	1.29e-12
exon_skip_481473	8	17819542:17819683:17820609:17820800:17822076:17822277	17820609:17820800	ENST00000519253.1,ENST00000325083.8,ENST00000524226.1	LUAD	rs6991775	chr8:17820714	A/T	1.42e-07
exon_skip_481473	8	17819542:17819683:17820609:17820800:17822076:17822277	17820609:17820800	ENST00000519253.1,ENST00000325083.8,ENST00000524226.1	LUAD	rs6991775	chr8:17820714	A/T	1.42e-07
exon_skip_481473	8	17819542:17819683:17820609:17820800:17822076:17822277	17820609:17820800	ENST00000519253.1,ENST00000325083.8,ENST00000524226.1	MESO	rs6991775	chr8:17820714	A/T	1.35e-04
exon_skip_481473	8	17819542:17819683:17820609:17820800:17822076:17822277	17820609:17820800	ENST00000519253.1,ENST00000325083.8,ENST00000524226.1	MESO	rs6991775	chr8:17820714	A/T	1.35e-04
exon_skip_481473	8	17819542:17819683:17820609:17820800:17822076:17822277	17820609:17820800	ENST00000519253.1,ENST00000325083.8,ENST00000524226.1	LUSC	rs6991775	chr8:17820714	A/T	2.39e-04
exon_skip_481473	8	17819542:17819683:17820609:17820800:17822076:17822277	17820609:17820800	ENST00000519253.1,ENST00000325083.8,ENST00000524226.1	LUSC	rs6991775	chr8:17820714	A/T	2.40e-04
exon_skip_481473	8	17819542:17819683:17820609:17820800:17822076:17822277	17820609:17820800	ENST00000519253.1,ENST00000325083.8,ENST00000524226.1	PCPG	rs6991775	chr8:17820714	A/T	8.34e-04
exon_skip_481473	8	17819542:17819683:17820609:17820800:17822076:17822277	17820609:17820800	ENST00000519253.1,ENST00000325083.8,ENST00000524226.1	PCPG	rs6991775	chr8:17820714	A/T	8.39e-04
exon_skip_481473	8	17819542:17819683:17820609:17820800:17822076:17822277	17820609:17820800	ENST00000519253.1,ENST00000325083.8,ENST00000524226.1	PAAD	rs6991775	chr8:17820714	A/T	8.70e-05
exon_skip_481473	8	17819542:17819683:17820609:17820800:17822076:17822277	17820609:17820800	ENST00000519253.1,ENST00000325083.8,ENST00000524226.1	PAAD	rs6991775	chr8:17820714	A/T	8.74e-05
exon_skip_481473	8	17819542:17819683:17820609:17820800:17822076:17822277	17820609:17820800	ENST00000519253.1,ENST00000325083.8,ENST00000524226.1	PRAD	rs6991775	chr8:17820714	A/T	4.86e-07
exon_skip_481473	8	17819542:17819683:17820609:17820800:17822076:17822277	17820609:17820800	ENST00000519253.1,ENST00000325083.8,ENST00000524226.1	PRAD	rs6991775	chr8:17820714	A/T	4.86e-07
exon_skip_481473	8	17819542:17819683:17820609:17820800:17822076:17822277	17820609:17820800	ENST00000519253.1,ENST00000325083.8,ENST00000524226.1	THYM	rs6991775	chr8:17820714	A/T	4.07e-06
exon_skip_481473	8	17819542:17819683:17820609:17820800:17822076:17822277	17820609:17820800	ENST00000519253.1,ENST00000325083.8,ENST00000524226.1	THYM	rs6991775	chr8:17820714	A/T	4.07e-06
exon_skip_481473	8	17819542:17819683:17820609:17820800:17822076:17822277	17820609:17820800	ENST00000519253.1,ENST00000325083.8,ENST00000524226.1	THCA	rs6991775	chr8:17820714	A/T	1.32e-18
exon_skip_481473	8	17819542:17819683:17820609:17820800:17822076:17822277	17820609:17820800	ENST00000519253.1,ENST00000325083.8,ENST00000524226.1	THCA	rs6991775	chr8:17820714	A/T	1.34e-18

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PCM1

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PCM1

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RelatedDrugs for PCM1

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 PCM1

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
PCM1	C0036341	Schizophrenia	1	CTD_human

	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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