ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for TRPS1

Gene summary

Gene information	Gene symbol	TRPS1
	Gene ID	7227
	Gene name	transcriptional repressor GATA binding 1
	Synonyms	GC79\|LGCR
	Cytomap	8q23.3
	Type of gene	protein-coding
	Description	zinc finger transcription factor Trps1tricho-rhino-phalangeal syndrome type I proteintrichorhinophalangeal syndrome Izinc finger protein GC79
	Modification date	20180519
	UniProtAcc	Q9UHF7
	Context	PubMed: TRPS1 [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
TRPS1	GO:0000122	negative regulation of transcription by RNA polymerase II	12885770\|21673316

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Exon skipping events across known transcript of Ensembl for TRPS1 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 TRPS1

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 TRPS1

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_491897	8	116430557:116430680:116599227:116599831:116616099:116616277	116599227:116599831	ENSG00000104447.7	ENST00000519076.1,ENST00000520276.1,ENST00000220888.5,ENST00000395715.3
exon_skip_491901	8	116599227:116599831:116616099:116617229:116631358:116631936	116616099:116617229	ENSG00000104447.7	ENST00000520276.1,ENST00000519674.1,ENST00000220888.5,ENST00000395715.3
exon_skip_491909	8	116616877:116617229:116631358:116632287:116680100:116680208	116631358:116632287	ENSG00000104447.7	ENST00000520276.1,ENST00000517323.2
exon_skip_491910	8	116616877:116617229:116631358:116632287:116680771:116680929	116631358:116632287	ENSG00000104447.7	ENST00000519674.1,ENST00000220888.5
exon_skip_491911	8	116632139:116632287:116635827:116635985:116649460:116649557	116635827:116635985	ENSG00000104447.7	ENST00000422939.1
exon_skip_491912	8	116632139:116632287:116635827:116635985:116673796:116673905	116635827:116635985	ENSG00000104447.7	ENST00000395713.2
exon_skip_491918	8	116632139:116632287:116635827:116635985:116681571:116681710	116635827:116635985	ENSG00000104447.7	ENST00000519815.1
exon_skip_491949	8	116635841:116635985:116649460:116649557:116713162:116713299	116649460:116649557	ENSG00000104447.7	ENST00000422939.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for TRPS1

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_491910	8	116616877:116617229:116631358:116632287:116680771:116680929	116631358:116632287	ENSG00000104447.7	ENST00000220888.5,ENST00000519674.1
exon_skip_491911	8	116632139:116632287:116635827:116635985:116649460:116649557	116635827:116635985	ENSG00000104447.7	ENST00000422939.1
exon_skip_491912	8	116632139:116632287:116635827:116635985:116673796:116673905	116635827:116635985	ENSG00000104447.7	ENST00000395713.2
exon_skip_491918	8	116632139:116632287:116635827:116635985:116681571:116681710	116635827:116635985	ENSG00000104447.7	ENST00000519815.1

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 TRPS1

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
ENST00000220888	116631358	116632287	3UTR-3CDS
ENST00000220888	116599227	116599831	Frame-shift
ENST00000220888	116616099	116617229	Frame-shift

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
ENST00000220888	116631358	116632287	3UTR-3CDS

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Infer the effects of exon skipping event on protein functional features for TRPS1

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

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

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 TRPS1

- 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.

TRPS1_STAD_exon_skip_491897_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
STAD	TCGA-BR-4368-01	exon_skip_491897	116599228	116599831	116599323	116599323	Frame_Shift_Del	C	-	p.A869fs
STAD	TCGA-CG-5721-01	exon_skip_491897	116599228	116599831	116599584	116599585	Frame_Shift_Del	TC	-	p.782_782del
STAD	TCGA-CG-5721-01	exon_skip_491897	116599228	116599831	116599584	116599585	Frame_Shift_Del	TC	-	p.K782fs
GBM	TCGA-19-1790-01	exon_skip_491897	116599228	116599831	116599737	116599737	Frame_Shift_Del	C	-	p.E731fs
LIHC	TCGA-DD-A1EG-01		116616100	116617229	116616430	116616430	Frame_Shift_Del	T	-	p.K589fs
LIHC	TCGA-DD-A1EG-01		116616100	116617229	116616637	116616637	Frame_Shift_Del	T	-	p.K521fs
LIHC	TCGA-DD-A3A1-01		116616100	116617229	116616810	116616810	Frame_Shift_Del	A	-	p.L462fs
LIHC	TCGA-DD-A3A0-01		116616100	116617229	116616880	116616880	Frame_Shift_Del	T	-	p.N439fs
LIHC	TCGA-DD-A39Y-01	exon_skip_491910 exon_skip_491909	116631359	116632287	116631705	116631705	Frame_Shift_Del	C	-	p.G207fs
HNSC	TCGA-F7-A624-01	exon_skip_491910 exon_skip_491909	116631359	116632287	116631857	116631857	Frame_Shift_Del	G	-	p.P156fs
LUAD	TCGA-95-7562-01	exon_skip_491910 exon_skip_491909	116631359	116632287	116631927	116631927	Frame_Shift_Del	C	-	p.G133fs
LIHC	TCGA-DD-A3A0-01	exon_skip_491910 exon_skip_491909	116631359	116632287	116632013	116632013	Frame_Shift_Del	G	-	p.P104fs
BRCA	TCGA-B6-A0RM-01	exon_skip_491910 exon_skip_491909	116631359	116632287	116632154	116632163	Frame_Shift_Del	TTCTGACATC	-	p.M55fs
LIHC	TCGA-DD-A3A1-01	exon_skip_491910 exon_skip_491909	116631359	116632287	116632272	116632272	Frame_Shift_Del	T	-	p.K18fs
HNSC	TCGA-CV-7253-01		116616100	116617229	116616583	116616584	Frame_Shift_Ins	-	A	p.C525fs
HNSC	TCGA-CV-7253-01		116616100	116617229	116616583	116616584	Frame_Shift_Ins	-	A	p.S538fs
STAD	TCGA-FP-A4BE-01	exon_skip_491910 exon_skip_491909	116631359	116632287	116631681	116631682	Frame_Shift_Ins	-	T	p.T202fs
STAD	TCGA-FP-A4BE-01	exon_skip_491910 exon_skip_491909	116631359	116632287	116631681	116631682	Frame_Shift_Ins	-	T	p.T215fs
STAD	TCGA-FP-A4BE-01	exon_skip_491910 exon_skip_491909	116631359	116632287	116631682	116631683	Frame_Shift_Ins	-	T	p.T215fs
STAD	TCGA-CG-5721-01	exon_skip_491910 exon_skip_491909	116631359	116632287	116631856	116631857	Frame_Shift_Ins	-	G	p.S157fs
STAD	TCGA-CG-5721-01	exon_skip_491910 exon_skip_491909	116631359	116632287	116631857	116631858	Frame_Shift_Ins	-	G	p.P156fs
TGCT	TCGA-2G-AAG0-01	exon_skip_491897	116599228	116599831	116599271	116599271	Nonsense_Mutation	G	T	p.S886*
TGCT	TCGA-2G-AAG0-01	exon_skip_491897	116599228	116599831	116599271	116599271	Nonsense_Mutation	G	T	p.S886X
STAD	TCGA-BR-7716-01	exon_skip_491897	116599228	116599831	116599425	116599425	Nonsense_Mutation	C	A	p.E822*
STAD	TCGA-BR-7716-01	exon_skip_491897	116599228	116599831	116599425	116599425	Nonsense_Mutation	C	A	p.E835X
UCEC	TCGA-AP-A0LM-01		116616100	116617229	116616218	116616218	Nonsense_Mutation	C	A	p.E660*
COAD	TCGA-CA-6717-01		116616100	116617229	116616298	116616298	Nonsense_Mutation	G	T	p.S633X
CESC	TCGA-MY-A5BD-01		116616100	116617229	116616305	116616305	Nonsense_Mutation	G	A	p.Q631*
UCEC	TCGA-BK-A0C9-01		116616100	116617229	116616326	116616326	Nonsense_Mutation	G	A	p.R624*
UCEC	TCGA-B5-A0JY-01		116616100	116617229	116616419	116616419	Nonsense_Mutation	C	A	p.E593*
LUAD	TCGA-86-8056-01		116616100	116617229	116616566	116616566	Nonsense_Mutation	G	A	p.R544*
LUAD	TCGA-44-7669-01		116616100	116617229	116616668	116616668	Nonsense_Mutation	T	A	p.K510*
ESCA	TCGA-L5-A8NR-01		116616100	116617229	116616855	116616855	Nonsense_Mutation	G	T	p.Y447*
ESCA	TCGA-L5-A8NR-01		116616100	116617229	116616855	116616855	Nonsense_Mutation	G	T	p.Y447X
SARC	TCGA-DX-A1L1-01		116616100	116617229	116616855	116616855	Nonsense_Mutation	G	C	p.Y447*
KIRC	TCGA-B0-5080-01		116616100	116617229	116616967	116616967	Nonsense_Mutation	C	T	p.W410X
LUSC	TCGA-43-2578-01		116616100	116617229	116617106	116617106	Nonsense_Mutation	C	A	p.E364*
LIHC	TCGA-DD-AACZ-01	exon_skip_491910 exon_skip_491909	116631359	116632287	116631492	116631492	Nonsense_Mutation	A	T	p.L278X
LUAD	TCGA-67-6217-01	exon_skip_491910 exon_skip_491909	116631359	116632287	116631634	116631634	Nonsense_Mutation	C	A	p.E218*
LUAD	TCGA-67-6217-01	exon_skip_491910 exon_skip_491909	116631359	116632287	116631634	116631634	Nonsense_Mutation	C	A	p.E231*
HNSC	TCGA-CR-7365-01	exon_skip_491910 exon_skip_491909	116631359	116632287	116631735	116631735	Nonsense_Mutation	G	C	p.S184*
HNSC	TCGA-CR-7365-01	exon_skip_491910 exon_skip_491909	116631359	116632287	116631735	116631735	Nonsense_Mutation	G	C	p.S197*
STAD	TCGA-BR-8680-01	exon_skip_491910 exon_skip_491909	116631359	116632287	116631976	116631976	Nonsense_Mutation	C	A	p.E104*
STAD	TCGA-BR-8680-01	exon_skip_491910 exon_skip_491909	116631359	116632287	116631976	116631976	Nonsense_Mutation	C	A	p.E117X
PRAD	TCGA-FC-A8O0-01	exon_skip_491910 exon_skip_491909	116631359	116632287	116632180	116632180	Nonsense_Mutation	C	A	p.E49*
READ	TCGA-F5-6814-01	exon_skip_491910 exon_skip_491909	116631359	116632287	116632180	116632180	Nonsense_Mutation	C	A	p.E49X
UCEC	TCGA-BS-A0UV-01	exon_skip_491910 exon_skip_491909	116631359	116632287	116632180	116632180	Nonsense_Mutation	C	A	p.E49*
LUAD	TCGA-78-7150-01	exon_skip_491910 exon_skip_491909	116631359	116632287	116632237	116632237	Nonsense_Mutation	C	A	p.E17*
LUAD	TCGA-78-7150-01	exon_skip_491910 exon_skip_491909	116631359	116632287	116632237	116632237	Nonsense_Mutation	C	A	p.E30*

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

Depth of coverage in three exons	Mutation description
	Sample: TCGA-BR-4368-01
	Cancer type: STAD
	ESID: exon_skip_491897
	Skipped exon start: 116599228
	Skipped exon end: 116599831
	Mutation start: 116599323
	Mutation end: 116599323
	Mutation type: Frame_Shift_Del
	Reference seq: C
	Mutation seq: -
	AAchange: p.A869fs
exon_skip_113437_STAD_TCGA-BR-4368-01.png
exon_skip_121036_STAD_TCGA-BR-4368-01.png
exon_skip_126510_STAD_TCGA-BR-4368-01.png
exon_skip_309996_STAD_TCGA-BR-4368-01.png
exon_skip_384879_STAD_TCGA-BR-4368-01.png
exon_skip_425876_STAD_TCGA-BR-4368-01.png
exon_skip_491897_STAD_TCGA-BR-4368-01.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
C33A_CERVIX	116599228	116599831	116599323	116599323	Frame_Shift_Del	C	-	p.A856fs
HMC18_BREAST	116599228	116599831	116599379	116599394	Frame_Shift_Del	TGGGCGGCCTCCACAT	-	p.NVEAAH832fs
SW1271_LUNG	116599228	116599831	116599453	116599453	Frame_Shift_Del	C	-	p.G812fs
2313287_STOMACH	116616100	116617229	116616637	116616637	Frame_Shift_Del	T	-	p.K508fs
MFE296_ENDOMETRIUM	116631359	116632287	116631427	116631428	Frame_Shift_Del	AC	-	p.F287fs
IM95_STOMACH	116631359	116632287	116631729	116631729	Frame_Shift_Del	T	-	p.N186fs
HEC1A_ENDOMETRIUM	116631359	116632287	116631783	116631784	Frame_Shift_Del	TG	-	p.Q168fs
HEC1_ENDOMETRIUM	116631359	116632287	116631783	116631784	Frame_Shift_Del	TG	-	p.Q168fs
HEC1B_ENDOMETRIUM	116631359	116632287	116631783	116631784	Frame_Shift_Del	TG	-	p.Q168fs
HEC6_ENDOMETRIUM	116631359	116632287	116631857	116631857	Frame_Shift_Del	G	-	p.P143fs
IM95_STOMACH	116631359	116632287	116631383	116631384	Frame_Shift_Ins	-	A	p.L301fs
EVSAT_BREAST	116631359	116632287	116632262	116632263	Frame_Shift_Ins	-	GG	p.P8fs
CAKI1_KIDNEY	116599228	116599831	116599289	116599289	Missense_Mutation	G	A	p.P867L
MEWO_SKIN	116599228	116599831	116599289	116599289	Missense_Mutation	G	A	p.P867L
NCIH720_LUNG	116599228	116599831	116599316	116599316	Missense_Mutation	G	T	p.A858D
RCHACV_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	116599228	116599831	116599322	116599322	Missense_Mutation	G	A	p.A856V
BEN_LUNG	116599228	116599831	116599361	116599361	Missense_Mutation	T	A	p.Y843F
NCIH2126_LUNG	116599228	116599831	116599388	116599388	Missense_Mutation	T	C	p.E834G
MHHPREB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	116599228	116599831	116599460	116599460	Missense_Mutation	C	T	p.S810N
KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	116599228	116599831	116599464	116599464	Missense_Mutation	C	T	p.A809T
L1236_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	116599228	116599831	116599470	116599470	Missense_Mutation	T	A	p.T807S
TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	116599228	116599831	116599487	116599487	Missense_Mutation	C	G	p.R801P
HS606T_FIBROBLAST	116599228	116599831	116599542	116599542	Missense_Mutation	C	T	p.E783K
NCIH2073_LUNG	116599228	116599831	116599568	116599568	Missense_Mutation	T	C	p.D774G
GP2D_LARGE_INTESTINE	116599228	116599831	116599568	116599568	Missense_Mutation	T	C	p.D774G
GP5D_LARGE_INTESTINE	116599228	116599831	116599568	116599568	Missense_Mutation	T	C	p.D774G
NCIH1993_LUNG	116599228	116599831	116599568	116599568	Missense_Mutation	T	C	p.D774G
HCT116_LARGE_INTESTINE	116599228	116599831	116599668	116599668	Missense_Mutation	T	C	p.K741E
ISTMEL1_SKIN	116599228	116599831	116599688	116599688	Missense_Mutation	G	A	p.S734F
CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	116599228	116599831	116599710	116599710	Missense_Mutation	C	T	p.E727K
HOP62_LUNG	116599228	116599831	116599776	116599776	Missense_Mutation	G	C	p.Q705E
SNU1040_LARGE_INTESTINE	116599228	116599831	116599805	116599805	Missense_Mutation	C	T	p.R695H
CL34_LARGE_INTESTINE	116616100	116617229	116616262	116616262	Missense_Mutation	T	G	p.H632P
SW837_LARGE_INTESTINE	116616100	116617229	116616287	116616287	Missense_Mutation	G	A	p.P624S
BICR6_UPPER_AERODIGESTIVE_TRACT	116616100	116617229	116616347	116616347	Missense_Mutation	G	A	p.P604S
JM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	116616100	116617229	116616347	116616347	Missense_Mutation	G	A	p.P604S
22RV1_PROSTATE	116616100	116617229	116616373	116616373	Missense_Mutation	C	T	p.C595Y
RS411_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	116616100	116617229	116616406	116616406	Missense_Mutation	G	A	p.P584L
NCCSTCK140_STOMACH	116616100	116617229	116616439	116616439	Missense_Mutation	C	A	p.S573I
CW2_LARGE_INTESTINE	116616100	116617229	116616479	116616479	Missense_Mutation	T	C	p.T560A
CAL54_KIDNEY	116616100	116617229	116616536	116616536	Missense_Mutation	T	C	p.I541V
GI1_CENTRAL_NERVOUS_SYSTEM	116616100	116617229	116616565	116616565	Missense_Mutation	C	T	p.R531Q
SKMEL30_SKIN	116616100	116617229	116616586	116616586	Missense_Mutation	T	C	p.N524S
SALE_LUNG	116616100	116617229	116616670	116616670	Missense_Mutation	G	A	p.T496I
CCK81_LARGE_INTESTINE	116616100	116617229	116616692	116616692	Missense_Mutation	T	C	p.S489G
NCIH1573_LUNG	116616100	116617229	116616726	116616726	Missense_Mutation	C	A	p.R477S
HCC2450_LUNG	116616100	116617229	116616727	116616727	Missense_Mutation	C	G	p.R477T
SNU1040_LARGE_INTESTINE	116616100	116617229	116616760	116616760	Missense_Mutation	C	T	p.G466D
HCC2998_LARGE_INTESTINE	116616100	116617229	116616761	116616761	Missense_Mutation	C	T	p.G466S
NCIH2023_LUNG	116616100	116617229	116616770	116616770	Missense_Mutation	G	C	p.Q463E
JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	116616100	116617229	116616773	116616773	Missense_Mutation	C	T	p.V462M
JHUEM7_ENDOMETRIUM	116616100	116617229	116616847	116616847	Missense_Mutation	T	G	p.K437T
KARPAS1106P_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	116616100	116617229	116616989	116616989	Missense_Mutation	C	A	p.D390Y
SW684_SOFT_TISSUE	116616100	116617229	116617007	116617007	Missense_Mutation	G	A	p.P384S
CHL1_SKIN	116616100	116617229	116617012	116617012	Missense_Mutation	G	A	p.S382F
HMCB_SKIN	116616100	116617229	116617012	116617012	Missense_Mutation	G	A	p.S382F
DMS153_LUNG	116616100	116617229	116617094	116617094	Missense_Mutation	G	C	p.L355V
SNUC5_LARGE_INTESTINE	116616100	116617229	116617166	116617166	Missense_Mutation	T	C	p.K331E
HOP62_LUNG	116616100	116617229	116617175	116617175	Missense_Mutation	C	A	p.G328W
SKNAS_AUTONOMIC_GANGLIA	116631359	116632287	116631391	116631391	Missense_Mutation	G	A	p.P299S
HCC2998_LARGE_INTESTINE	116631359	116632287	116631399	116631399	Missense_Mutation	G	A	p.S296F
BICR18_UPPER_AERODIGESTIVE_TRACT	116631359	116632287	116631427	116631427	Missense_Mutation	A	G	p.F287L
NCIH2009_LUNG	116631359	116632287	116631435	116631435	Missense_Mutation	C	G	p.R284P
HCC2998_LARGE_INTESTINE	116631359	116632287	116631454	116631454	Missense_Mutation	C	A	p.D278Y
SNU1040_LARGE_INTESTINE	116631359	116632287	116631528	116631528	Missense_Mutation	C	T	p.R253H
NCIH1930_LUNG	116631359	116632287	116631576	116631576	Missense_Mutation	G	T	p.T237K
NCIH650_LUNG	116631359	116632287	116631583	116631583	Missense_Mutation	C	A	p.D235Y
SNU1040_LARGE_INTESTINE	116631359	116632287	116631583	116631583	Missense_Mutation	C	T	p.D235N
NCIH292_LUNG	116631359	116632287	116631589	116631589	Missense_Mutation	C	T	p.G233S
NCIH838_LUNG	116631359	116632287	116631610	116631610	Missense_Mutation	T	C	p.I226V
PATU8988T_PANCREAS	116631359	116632287	116631687	116631687	Missense_Mutation	G	T	p.S200Y
PATU8988S_PANCREAS	116631359	116632287	116631687	116631687	Missense_Mutation	G	T	p.S200Y
HT55_LARGE_INTESTINE	116631359	116632287	116631732	116631732	Missense_Mutation	T	A	p.K185I
HCC15_LUNG	116631359	116632287	116631739	116631739	Missense_Mutation	C	A	p.A183S
SNU175_LARGE_INTESTINE	116631359	116632287	116631833	116631833	Missense_Mutation	C	A	p.K151N
LS411N_LARGE_INTESTINE	116631359	116632287	116631864	116631864	Missense_Mutation	C	T	p.C141Y
SNU283_LARGE_INTESTINE	116631359	116632287	116631868	116631868	Missense_Mutation	C	T	p.A140T
ALLPO_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	116631359	116632287	116632083	116632083	Missense_Mutation	G	T	p.S68Y
JHUEM2_ENDOMETRIUM	116631359	116632287	116632098	116632098	Missense_Mutation	T	C	p.H63R
ECGI10_OESOPHAGUS	116631359	116632287	116632098	116632098	Missense_Mutation	T	C	p.H63R
MDAMB436_BREAST	116631359	116632287	116632122	116632122	Missense_Mutation	T	C	p.N55S
DU4475_BREAST	116631359	116632287	116632204	116632204	Missense_Mutation	T	G	p.S28R
ISHIKAWAHERAKLIO02ER_ENDOMETRIUM	116631359	116632287	116632224	116632224	Missense_Mutation	A	G	p.L21P
CCK81_LARGE_INTESTINE	116631359	116632287	116632230	116632230	Missense_Mutation	T	C	p.Q19R
HS939T_SKIN	116631359	116632287	116632279	116632279	Missense_Mutation	G	A	p.R3W
NCIH1651_LUNG	116599228	116599831	116599617	116599617	Nonsense_Mutation	C	A	p.E758*
CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	116616100	116617229	116616326	116616326	Nonsense_Mutation	G	A	p.R611*
SNU1040_LARGE_INTESTINE	116616100	116617229	116616326	116616326	Nonsense_Mutation	G	A	p.R611*
SNU1040_LARGE_INTESTINE	116631359	116632287	116632207	116632207	Nonsense_Mutation	C	A	p.E27*
WM88_SKIN	116599228	116599831	116599229	116599229	Splice_Site	C	T	p.R887Q
HCT15_LARGE_INTESTINE	116631359	116632287	116632283	116632283	Start_Codon_SNP	C	T	p.M1I

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for TRPS1

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 TRPS1

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TRPS1

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RelatedDrugs for TRPS1

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 TRPS1

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
TRPS1	C0376634	Craniofacial Abnormalities	2	CTD_human
TRPS1	C1860823	Trichorhinophalangeal Syndrome, Type III	2	CTD_human;UNIPROT
TRPS1	C0005941	Bone Diseases, Developmental	1	CTD_human
TRPS1	C0023003	Langer-Giedion Syndrome	1	CTD_human;ORPHANET
TRPS1	C0024667	Animal Mammary Neoplasms	1	CTD_human
TRPS1	C0024668	Mammary Neoplasms, Experimental	1	CTD_human
TRPS1	C0432233	Trichorhinophalangeal dysplasia type I	1	CTD_human;UNIPROT

	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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Gene summary for TRPS1

Exon skipping events across known transcript of Ensembl for TRPS1 from UCSC genome browser

Gene isoform structures and expression levels for TRPS1

Exon skipping events with PSIs in TCGA for TRPS1

Exon skipping events with PSIs in GTEx for TRPS1

Open reading frame (ORF) annotation in the exon skipping event for TRPS1

Infer the effects of exon skipping event on protein functional features for TRPS1

SNVs in the skipped exons for TRPS1

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for TRPS1

Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TRPS1

Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TRPS1

RelatedDrugs for TRPS1

RelatedDiseases for TRPS1