ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for MLPH

Gene summary

Gene information	Gene symbol	MLPH
	Gene ID	79083
	Gene name	melanophilin
	Synonyms	SLAC2-A
	Cytomap	2q37.3
	Type of gene	protein-coding
	Description	melanophilinexophilin-3slp homolog lacking C2 domains asynaptotagmin-like protein 2a
	Modification date	20180523
	UniProtAcc	Q9BV36
	Context	PubMed: MLPH [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 MLPH 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 MLPH

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 MLPH

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_335151	2	238394909:238394952:238396040:238396080:238402045:238402179	238396040:238396080	ENSG00000115648.9	ENST00000422695.1
exon_skip_335152	2	238395052:238395381:238396040:238396080:238402045:238402179	238396040:238396080	ENSG00000115648.9	ENST00000410032.1
exon_skip_335154	2	238402045:238402179:238415891:238416028:238419216:238419317	238415891:238416028	ENSG00000115648.9	ENST00000477222.1
exon_skip_335182	2	238419631:238419744:238427181:238427291:238434243:238434448	238427181:238427291	ENSG00000115648.9	ENST00000409373.1
exon_skip_335221	2	238427205:238427291:238428552:238428672:238434243:238434448	238428552:238428672	ENSG00000115648.9	ENST00000338530.4,ENST00000495439.1,ENST00000264605.3,ENST00000468178.1,ENST00000445024.2,ENST00000464123.1,ENST00000494110.1
exon_skip_335223	2	238427205:238427291:238428552:238428672:238448990:238449089	238428552:238428672	ENSG00000115648.9	ENST00000410032.1
exon_skip_335234	2	238428621:238428672:238434243:238434448:238443206:238443290	238434243:238434448	ENSG00000115648.9	ENST00000437893.1
exon_skip_335250	2	238434374:238434448:238435971:238436159:238448990:238449089	238435971:238436159	ENSG00000115648.9	ENST00000436965.1
exon_skip_335255	2	238434374:238434448:238436019:238436159:238443206:238443290	238436019:238436159	ENSG00000115648.9	ENST00000485956.1,ENST00000264605.3,ENST00000445024.2,ENST00000494110.1
exon_skip_335258	2	238434374:238434448:238436019:238436159:238448990:238449089	238436019:238436159	ENSG00000115648.9	ENST00000478712.1,ENST00000338530.4,ENST00000495439.1,ENST00000468178.1,ENST00000464123.1,ENST00000409373.1
exon_skip_335269	2	238434374:238434448:238443206:238443290:238448990:238449089	238443206:238443290	ENSG00000115648.9	ENST00000437893.1
exon_skip_335280	2	238436077:238436159:238443206:238443290:238448990:238449035	238443206:238443290	ENSG00000115648.9	ENST00000415753.1,ENST00000264605.3,ENST00000445024.2,ENST00000494110.1
exon_skip_335284	2	238449091:238449176:238449444:238449600:238451209:238451302	238449444:238449600	ENSG00000115648.9	ENST00000478712.1,ENST00000338530.4,ENST00000437893.1,ENST00000264605.3,ENST00000468178.1,ENST00000445024.2,ENST00000432475.1,ENST00000410032.1,ENST00000464123.1
exon_skip_335286	2	238449507:238449600:238451209:238451302:238455248:238455326	238451209:238451302	ENSG00000115648.9	ENST00000478712.1,ENST00000338530.4,ENST00000437893.1,ENST00000264605.3,ENST00000432475.1,ENST00000410032.1,ENST00000434770.1,ENST00000464123.1
exon_skip_335289	2	238451209:238451302:238454099:238454288:238455248:238455326	238454099:238454288	ENSG00000115648.9	ENST00000445024.2
exon_skip_335307	2	238455248:238455326:238457863:238457921:238460979:238461080	238457863:238457921	ENSG00000115648.9	ENST00000478712.1,ENST00000338530.4,ENST00000415753.1,ENST00000437893.1,ENST00000495439.1,ENST00000264605.3,ENST00000445024.2,ENST00000432475.1,ENST00000410032.1,ENST00000434770.1,ENST00000464123.1,ENST00000477457.1,ENST00000409373.1
exon_skip_335314	2	238457863:238457921:238460979:238461080:238462331:238462634	238460979:238461080	ENSG00000115648.9	ENST00000434770.1
exon_skip_335317	2	238460979:238461080:238461739:238461874:238462208:238462305	238461739:238461874	ENSG00000115648.9	ENST00000432475.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for MLPH

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_335151	2	238394909:238394952:238396040:238396080:238402045:238402179	238396040:238396080	ENSG00000115648.9	ENST00000422695.1
exon_skip_335152	2	238395052:238395381:238396040:238396080:238402045:238402179	238396040:238396080	ENSG00000115648.9	ENST00000410032.1
exon_skip_335154	2	238402045:238402179:238415891:238416028:238419216:238419317	238415891:238416028	ENSG00000115648.9	ENST00000477222.1
exon_skip_335182	2	238419631:238419744:238427181:238427291:238434243:238434448	238427181:238427291	ENSG00000115648.9	ENST00000409373.1
exon_skip_335221	2	238427205:238427291:238428552:238428672:238434243:238434448	238428552:238428672	ENSG00000115648.9	ENST00000264605.3,ENST00000445024.2,ENST00000468178.1,ENST00000338530.4,ENST00000495439.1,ENST00000464123.1,ENST00000494110.1
exon_skip_335223	2	238427205:238427291:238428552:238428672:238448990:238449089	238428552:238428672	ENSG00000115648.9	ENST00000410032.1
exon_skip_335234	2	238428621:238428672:238434243:238434448:238443206:238443290	238434243:238434448	ENSG00000115648.9	ENST00000437893.1
exon_skip_335250	2	238434374:238434448:238435971:238436159:238448990:238449089	238435971:238436159	ENSG00000115648.9	ENST00000436965.1
exon_skip_335255	2	238434374:238434448:238436019:238436159:238443206:238443290	238436019:238436159	ENSG00000115648.9	ENST00000264605.3,ENST00000445024.2,ENST00000494110.1,ENST00000485956.1
exon_skip_335258	2	238434374:238434448:238436019:238436159:238448990:238449089	238436019:238436159	ENSG00000115648.9	ENST00000468178.1,ENST00000338530.4,ENST00000409373.1,ENST00000495439.1,ENST00000464123.1,ENST00000478712.1
exon_skip_335269	2	238434374:238434448:238443206:238443290:238448990:238449089	238443206:238443290	ENSG00000115648.9	ENST00000437893.1
exon_skip_335280	2	238436077:238436159:238443206:238443290:238448990:238449035	238443206:238443290	ENSG00000115648.9	ENST00000264605.3,ENST00000445024.2,ENST00000494110.1,ENST00000415753.1
exon_skip_335284	2	238449091:238449176:238449444:238449600:238451209:238451302	238449444:238449600	ENSG00000115648.9	ENST00000410032.1,ENST00000264605.3,ENST00000445024.2,ENST00000468178.1,ENST00000338530.4,ENST00000464123.1,ENST00000478712.1,ENST00000437893.1,ENST00000432475.1
exon_skip_335286	2	238449507:238449600:238451209:238451302:238455248:238455326	238451209:238451302	ENSG00000115648.9	ENST00000410032.1,ENST00000264605.3,ENST00000338530.4,ENST00000464123.1,ENST00000478712.1,ENST00000437893.1,ENST00000432475.1,ENST00000434770.1
exon_skip_335289	2	238451209:238451302:238454099:238454288:238455248:238455326	238454099:238454288	ENSG00000115648.9	ENST00000445024.2
exon_skip_335307	2	238455248:238455326:238457863:238457921:238460979:238461080	238457863:238457921	ENSG00000115648.9	ENST00000410032.1,ENST00000264605.3,ENST00000445024.2,ENST00000338530.4,ENST00000409373.1,ENST00000495439.1,ENST00000464123.1,ENST00000478712.1,ENST00000437893.1,ENST00000415753.1,ENST00000432475.1,ENST00000434770.1,ENST00000477457.1
exon_skip_335314	2	238457863:238457921:238460979:238461080:238462331:238462634	238460979:238461080	ENSG00000115648.9	ENST00000434770.1
exon_skip_335317	2	238460979:238461080:238461739:238461874:238462208:238462305	238461739:238461874	ENSG00000115648.9	ENST00000432475.1

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 MLPH

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
ENST00000264605	238436019	238436159	Frame-shift
ENST00000264605	238457863	238457921	Frame-shift
ENST00000264605	238428552	238428672	In-frame
ENST00000264605	238443206	238443290	In-frame
ENST00000264605	238449444	238449600	In-frame
ENST00000264605	238451209	238451302	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
ENST00000264605	238436019	238436159	Frame-shift
ENST00000264605	238457863	238457921	Frame-shift
ENST00000264605	238428552	238428672	In-frame
ENST00000264605	238443206	238443290	In-frame
ENST00000264605	238449444	238449600	In-frame
ENST00000264605	238451209	238451302	In-frame

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

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
ENST00000264605	3840	600	238428552	238428672	850	969	185	225
ENST00000264605	3840	600	238443206	238443290	1315	1398	340	368
ENST00000264605	3840	600	238449444	238449600	1585	1740	430	482
ENST00000264605	3840	600	238451209	238451302	1741	1833	482	513

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
ENST00000264605	3840	600	238428552	238428672	850	969	185	225
ENST00000264605	3840	600	238443206	238443290	1315	1398	340	368
ENST00000264605	3840	600	238449444	238449600	1585	1740	430	482
ENST00000264605	3840	600	238451209	238451302	1741	1833	482	513

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
Q9BV36	185	225	186	225	Alternative sequence	ID=VSP_042158;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q9BV36	185	225	1	600	Chain	ID=PRO_0000190222;Note=Melanophilin
Q9BV36	340	368	226	368	Alternative sequence	ID=VSP_055730;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q9BV36	340	368	341	368	Alternative sequence	ID=VSP_007554;Note=In isoform 2 and isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334
Q9BV36	340	368	1	600	Chain	ID=PRO_0000190222;Note=Melanophilin
Q9BV36	340	368	347	347	Natural variant	ID=VAR_015694;Note=H->R;Dbxref=dbSNP:rs2292884
Q9BV36	430	482	430	481	Alternative sequence	ID=VSP_042159;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q9BV36	430	482	1	600	Chain	ID=PRO_0000190222;Note=Melanophilin
Q9BV36	430	482	373	496	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9BV36	430	482	451	451	Natural variant	ID=VAR_061754;Note=P->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:14702039;Dbxref=dbSNP:rs58256353,PMID:14702039
Q9BV36	482	513	1	600	Chain	ID=PRO_0000190222;Note=Melanophilin
Q9BV36	482	513	373	496	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255

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
Q9BV36	185	225	186	225	Alternative sequence	ID=VSP_042158;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q9BV36	185	225	1	600	Chain	ID=PRO_0000190222;Note=Melanophilin
Q9BV36	340	368	226	368	Alternative sequence	ID=VSP_055730;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q9BV36	340	368	341	368	Alternative sequence	ID=VSP_007554;Note=In isoform 2 and isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334
Q9BV36	340	368	1	600	Chain	ID=PRO_0000190222;Note=Melanophilin
Q9BV36	340	368	347	347	Natural variant	ID=VAR_015694;Note=H->R;Dbxref=dbSNP:rs2292884
Q9BV36	430	482	430	481	Alternative sequence	ID=VSP_042159;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q9BV36	430	482	1	600	Chain	ID=PRO_0000190222;Note=Melanophilin
Q9BV36	430	482	373	496	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9BV36	430	482	451	451	Natural variant	ID=VAR_061754;Note=P->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:14702039;Dbxref=dbSNP:rs58256353,PMID:14702039
Q9BV36	482	513	1	600	Chain	ID=PRO_0000190222;Note=Melanophilin
Q9BV36	482	513	373	496	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255

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SNVs in the skipped exons for MLPH

- 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.

MLPH_LIHC_exon_skip_335284_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-DD-A3A0-01	exon_skip_335234	238434244	238434448	238434429	238434429	Frame_Shift_Del	G	-	p.L287fs
LIHC	TCGA-DD-A39Y-01	exon_skip_335284	238449445	238449600	238449479	238449479	Frame_Shift_Del	A	-	p.E442fs
LIHC	TCGA-DD-A1EG-01	exon_skip_335284	238449445	238449600	238449486	238449486	Frame_Shift_Del	C	-	p.S444fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_335284	238449445	238449600	238449572	238449572	Frame_Shift_Del	C	-	p.A473fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_335314	238460980	238461080	238460996	238460996	Frame_Shift_Del	T	-	p.S564fs
LUAD	TCGA-86-8056-01	exon_skip_335234	238434244	238434448	238434334	238434335	Frame_Shift_Ins	-	C	p.P256fs
LUSC	TCGA-21-1070-01	exon_skip_335314	238460980	238461080	238461036	238461036	Nonsense_Mutation	A	T	p.R578*
LUSC	TCGA-22-4607-01	exon_skip_335269 exon_skip_335280	238443207	238443290	238443205	238443205	Splice_Site	A	C	p.I341_splice

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

Depth of coverage in three exons	Mutation description
	Sample: TCGA-DD-A39Y-01
	Cancer type: LIHC
	ESID: exon_skip_335284
	Skipped exon start: 238449445
	Skipped exon end: 238449600
	Mutation start: 238449479
	Mutation end: 238449479
	Mutation type: Frame_Shift_Del
	Reference seq: A
	Mutation seq: -
	AAchange: p.E442fs
exon_skip_105023_LIHC_TCGA-DD-A39Y-01.png
exon_skip_101824_LIHC_TCGA-DD-A39Y-01.png
exon_skip_106032_LIHC_TCGA-DD-A39Y-01.png
exon_skip_106378_LIHC_TCGA-DD-A39Y-01.png
exon_skip_106523_LIHC_TCGA-DD-A39Y-01.png
exon_skip_106524_LIHC_TCGA-DD-A39Y-01.png
exon_skip_109527_LIHC_TCGA-DD-A39Y-01.png
exon_skip_109529_LIHC_TCGA-DD-A39Y-01.png
exon_skip_110000_LIHC_TCGA-DD-A39Y-01.png
exon_skip_11029_LIHC_TCGA-DD-A39Y-01.png
exon_skip_111893_LIHC_TCGA-DD-A39Y-01.png
exon_skip_111894_LIHC_TCGA-DD-A39Y-01.png
exon_skip_112042_LIHC_TCGA-DD-A39Y-01.png
exon_skip_112647_LIHC_TCGA-DD-A39Y-01.png
exon_skip_114045_LIHC_TCGA-DD-A39Y-01.png
exon_skip_114046_LIHC_TCGA-DD-A39Y-01.png
exon_skip_114565_LIHC_TCGA-DD-A39Y-01.png
exon_skip_11916_LIHC_TCGA-DD-A39Y-01.png
exon_skip_1234_LIHC_TCGA-DD-A39Y-01.png
exon_skip_1237_LIHC_TCGA-DD-A39Y-01.png
exon_skip_124639_LIHC_TCGA-DD-A39Y-01.png
exon_skip_124693_LIHC_TCGA-DD-A39Y-01.png
exon_skip_124695_LIHC_TCGA-DD-A39Y-01.png
exon_skip_130535_LIHC_TCGA-DD-A39Y-01.png
exon_skip_13071_LIHC_TCGA-DD-A39Y-01.png
exon_skip_131505_LIHC_TCGA-DD-A39Y-01.png
exon_skip_133556_LIHC_TCGA-DD-A39Y-01.png
exon_skip_135211_LIHC_TCGA-DD-A39Y-01.png
exon_skip_135545_LIHC_TCGA-DD-A39Y-01.png
exon_skip_135553_LIHC_TCGA-DD-A39Y-01.png
exon_skip_135763_LIHC_TCGA-DD-A39Y-01.png
exon_skip_137564_LIHC_TCGA-DD-A39Y-01.png
exon_skip_138947_LIHC_TCGA-DD-A39Y-01.png
exon_skip_139222_LIHC_TCGA-DD-A39Y-01.png
exon_skip_141370_LIHC_TCGA-DD-A39Y-01.png
exon_skip_141945_LIHC_TCGA-DD-A39Y-01.png
exon_skip_143515_LIHC_TCGA-DD-A39Y-01.png
exon_skip_143728_LIHC_TCGA-DD-A39Y-01.png
exon_skip_14772_LIHC_TCGA-DD-A39Y-01.png
exon_skip_148319_LIHC_TCGA-DD-A39Y-01.png
exon_skip_148332_LIHC_TCGA-DD-A39Y-01.png
exon_skip_14897_LIHC_TCGA-DD-A39Y-01.png
exon_skip_150985_LIHC_TCGA-DD-A39Y-01.png
exon_skip_151979_LIHC_TCGA-DD-A39Y-01.png
exon_skip_153387_LIHC_TCGA-DD-A39Y-01.png
exon_skip_153494_LIHC_TCGA-DD-A39Y-01.png
exon_skip_153786_LIHC_TCGA-DD-A39Y-01.png
exon_skip_155021_LIHC_TCGA-DD-A39Y-01.png
exon_skip_155962_LIHC_TCGA-DD-A39Y-01.png
exon_skip_155964_LIHC_TCGA-DD-A39Y-01.png
exon_skip_19897_LIHC_TCGA-DD-A39Y-01.png
exon_skip_19898_LIHC_TCGA-DD-A39Y-01.png
exon_skip_19902_LIHC_TCGA-DD-A39Y-01.png
exon_skip_20050_LIHC_TCGA-DD-A39Y-01.png
exon_skip_20053_LIHC_TCGA-DD-A39Y-01.png
exon_skip_21823_LIHC_TCGA-DD-A39Y-01.png
exon_skip_22411_LIHC_TCGA-DD-A39Y-01.png
exon_skip_22908_LIHC_TCGA-DD-A39Y-01.png
exon_skip_23470_LIHC_TCGA-DD-A39Y-01.png
exon_skip_24870_LIHC_TCGA-DD-A39Y-01.png
exon_skip_25336_LIHC_TCGA-DD-A39Y-01.png
exon_skip_26316_LIHC_TCGA-DD-A39Y-01.png
exon_skip_26461_LIHC_TCGA-DD-A39Y-01.png
exon_skip_26958_LIHC_TCGA-DD-A39Y-01.png
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	Sample: TCGA-22-4607-01
	Cancer type: LUSC
	ESID: exon_skip_335280
	Skipped exon start: 238443207
	Skipped exon end: 238443290
	Mutation start: 238443205
	Mutation end: 238443205
	Mutation type: Splice_Site
	Reference seq: A
	Mutation seq: C
	AAchange: p.I341_splice
exon_skip_335269_LUSC_TCGA-22-4607-01.png
exon_skip_335280_LUSC_TCGA-22-4607-01.png
	Sample: TCGA-22-4607-01
	Cancer type: LUSC
	ESID: exon_skip_335280
	Skipped exon start: 238443207
	Skipped exon end: 238443290
	Mutation start: 238443205
	Mutation end: 238443205
	Mutation type: Splice_Site
	Reference seq: A
	Mutation seq: C
	AAchange: p.I341_splice
exon_skip_335269_LUSC_TCGA-22-4607-01.png
exon_skip_335280_LUSC_TCGA-22-4607-01.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
NCIH1573_LUNG	238427182	238427291	238427190	238427190	Missense_Mutation	G	C	p.E152Q
HEC251_ENDOMETRIUM	238428553	238428672	238428653	238428653	Missense_Mutation	A	C	p.E219A
TUR_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	238434244	238434448	238434370	238434370	Missense_Mutation	T	C	p.S268P
LNCAPCLONEFGC_PROSTATE	238434244	238434448	238434427	238434427	Missense_Mutation	C	A	p.L287M
CAL54_KIDNEY	238436020	238436159	238436023	238436023	Missense_Mutation	C	T	p.S295L
CAL54_KIDNEY	238435972	238436159	238436023	238436023	Missense_Mutation	C	T	p.S295L
NALM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	238436020	238436159	238436097	238436097	Missense_Mutation	C	T	p.R320W
NALM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	238435972	238436159	238436097	238436097	Missense_Mutation	C	T	p.R320W
H290_PLEURA	238443207	238443290	238443273	238443273	Missense_Mutation	G	C	p.V363L
MEWO_SKIN	238449445	238449600	238449487	238449487	Missense_Mutation	C	T	p.P445S
HCC2998_LARGE_INTESTINE	238449445	238449600	238449491	238449491	Missense_Mutation	A	G	p.Q446R
KATOIII_STOMACH	238449445	238449600	238449580	238449580	Missense_Mutation	G	T	p.V476F
NCIH1563_LUNG	238449445	238449600	238449592	238449592	Missense_Mutation	G	C	p.E480Q
NCIH2172_LUNG	238451210	238451302	238451283	238451283	Missense_Mutation	G	T	p.R507L
SNU349_KIDNEY	238451210	238451302	238451296	238451296	Missense_Mutation	C	G	p.N511K
T3M10_LUNG	238457864	238457921	238457899	238457899	Missense_Mutation	C	A	p.F551L
KYSE140_OESOPHAGUS	238460980	238461080	238460991	238460991	Missense_Mutation	G	A	p.D563N
CCK81_LARGE_INTESTINE	238460980	238461080	238461016	238461016	Missense_Mutation	A	G	p.Y571C
SUPM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	238460980	238461080	238461037	238461037	Missense_Mutation	G	C	p.R578T
SNU1040_LARGE_INTESTINE	238460980	238461080	238461018	238461018	Nonsense_Mutation	C	T	p.R572*
MFE319_ENDOMETRIUM	238428553	238428672	238428671	238428671	Splice_Site	A	G	p.Q225R
PK59_PANCREAS	238434244	238434448	238434448	238434448	Splice_Site	G	C	p.G294R
NCIH1770_LUNG	238443207	238443290	238443290	238443290	Splice_Site	G	A	p.K368K
HS600T_FIBROBLAST	238451210	238451302	238451301	238451301	Splice_Site	C	G	p.P513R
KMRC3_KIDNEY	238451210	238451302	238451301	238451301	Splice_Site	C	T	p.P513L

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

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_335269	2	238434374:238434448:238443206:238443290:238448990:238449089	238443206:238443290	ENST00000437893.1	LUAD	rs2292884	chr2:238443226	A/G	2.49e-07
exon_skip_335269	2	238434374:238434448:238443206:238443290:238448990:238449089	238443206:238443290	ENST00000437893.1	LUAD	rs2292884	chr2:238443226	A/G	2.14e-06
exon_skip_335269	2	238434374:238434448:238443206:238443290:238448990:238449089	238443206:238443290	ENST00000437893.1	LIHC	rs2292884	chr2:238443226	A/G	6.41e-04
exon_skip_335269	2	238434374:238434448:238443206:238443290:238448990:238449089	238443206:238443290	ENST00000437893.1	OV	rs2292884	chr2:238443226	A/G	8.80e-06
exon_skip_335269	2	238434374:238434448:238443206:238443290:238448990:238449089	238443206:238443290	ENST00000437893.1	PAAD	rs2292884	chr2:238443226	A/G	1.76e-04
exon_skip_335269	2	238434374:238434448:238443206:238443290:238448990:238449089	238443206:238443290	ENST00000437893.1	PRAD	rs2292884	chr2:238443226	A/G	3.18e-11
exon_skip_335269	2	238434374:238434448:238443206:238443290:238448990:238449089	238443206:238443290	ENST00000437893.1	PRAD	rs2292884	chr2:238443226	A/G	2.19e-10
exon_skip_335269	2	238434374:238434448:238443206:238443290:238448990:238449089	238443206:238443290	ENST00000437893.1	STAD	rs2292884	chr2:238443226	A/G	8.30e-12
exon_skip_335269	2	238434374:238434448:238443206:238443290:238448990:238449089	238443206:238443290	ENST00000437893.1	STAD	rs2292884	chr2:238443226	A/G	3.99e-06
exon_skip_335269	2	238434374:238434448:238443206:238443290:238448990:238449089	238443206:238443290	ENST00000437893.1	THCA	rs2292884	chr2:238443226	A/G	7.58e-17
exon_skip_335269	2	238434374:238434448:238443206:238443290:238448990:238449089	238443206:238443290	ENST00000437893.1	UVM	rs2292884	chr2:238443226	A/G	1.93e-08
exon_skip_335234	2	238428621:238428672:238434243:238434448:238443206:238443290	238434243:238434448	ENST00000437893.1	BRCA	rs2292881	chr2:238434249	C/T	6.32e-05
exon_skip_335234	2	238428621:238428672:238434243:238434448:238443206:238443290	238434243:238434448	ENST00000437893.1	BRCA	rs11883500	chr2:238434434	C/T	1.83e-04
exon_skip_335234	2	238428621:238428672:238434243:238434448:238443206:238443290	238434243:238434448	ENST00000437893.1	BRCA	rs11883500	chr2:238434434	C/T	2.80e-04
exon_skip_335234	2	238428621:238428672:238434243:238434448:238443206:238443290	238434243:238434448	ENST00000437893.1	BRCA	rs11883500	chr2:238434434	C/T	6.81e-04
exon_skip_335234	2	238428621:238428672:238434243:238434448:238443206:238443290	238434243:238434448	ENST00000437893.1	BRCA	rs2292881	chr2:238434249	C/T	1.82e-03
exon_skip_335234	2	238428621:238428672:238434243:238434448:238443206:238443290	238434243:238434448	ENST00000437893.1	BRCA	rs2292881	chr2:238434249	C/T	2.06e-03
exon_skip_335234	2	238428621:238428672:238434243:238434448:238443206:238443290	238434243:238434448	ENST00000437893.1	BRCA	rs2292881	chr2:238434249	C/T	3.33e-03
exon_skip_335234	2	238428621:238428672:238434243:238434448:238443206:238443290	238434243:238434448	ENST00000437893.1	LUAD	rs2292881	chr2:238434249	C/T	1.05e-08
exon_skip_335234	2	238428621:238428672:238434243:238434448:238443206:238443290	238434243:238434448	ENST00000437893.1	LUAD	rs11883500	chr2:238434434	C/T	2.00e-07
exon_skip_335234	2	238428621:238428672:238434243:238434448:238443206:238443290	238434243:238434448	ENST00000437893.1	LUSC	rs2292881	chr2:238434249	C/T	2.17e-05
exon_skip_335234	2	238428621:238428672:238434243:238434448:238443206:238443290	238434243:238434448	ENST00000437893.1	PAAD	rs2292881	chr2:238434249	C/T	1.49e-07
exon_skip_335234	2	238428621:238428672:238434243:238434448:238443206:238443290	238434243:238434448	ENST00000437893.1	PAAD	rs11883500	chr2:238434434	C/T	3.33e-04
exon_skip_335234	2	238428621:238428672:238434243:238434448:238443206:238443290	238434243:238434448	ENST00000437893.1	PRAD	rs2292881	chr2:238434249	C/T	3.27e-12
exon_skip_335234	2	238428621:238428672:238434243:238434448:238443206:238443290	238434243:238434448	ENST00000437893.1	PRAD	rs11883500	chr2:238434434	C/T	5.65e-10
exon_skip_335234	2	238428621:238428672:238434243:238434448:238443206:238443290	238434243:238434448	ENST00000437893.1	STAD	rs11883500	chr2:238434434	C/T	9.39e-09
exon_skip_335234	2	238428621:238428672:238434243:238434448:238443206:238443290	238434243:238434448	ENST00000437893.1	STAD	rs2292881	chr2:238434249	C/T	1.84e-04
exon_skip_335234	2	238428621:238428672:238434243:238434448:238443206:238443290	238434243:238434448	ENST00000437893.1	STAD	rs11883500	chr2:238434434	C/T	1.74e-03
exon_skip_335234	2	238428621:238428672:238434243:238434448:238443206:238443290	238434243:238434448	ENST00000437893.1	THCA	rs2292881	chr2:238434249	C/T	1.06e-13
exon_skip_335234	2	238428621:238428672:238434243:238434448:238443206:238443290	238434243:238434448	ENST00000437893.1	UVM	rs11883500	chr2:238434434	C/T	2.10e-05
exon_skip_335234	2	238428621:238428672:238434243:238434448:238443206:238443290	238434243:238434448	ENST00000437893.1	UVM	rs2292881	chr2:238434249	C/T	4.67e-05
exon_skip_335182	2	238419631:238419744:238427181:238427291:238434243:238434448	238427181:238427291	ENST00000409373.1	COAD	rs3751109	chr2:238427194	T/C	6.23e-05
exon_skip_335182	2	238419631:238419744:238427181:238427291:238434243:238434448	238427181:238427291	ENST00000409373.1	COAD	rs3751107	chr2:238427251	G/A	6.23e-05
exon_skip_335182	2	238419631:238419744:238427181:238427291:238434243:238434448	238427181:238427291	ENST00000409373.1	LUAD	rs3751109	chr2:238427194	T/C	5.98e-11
exon_skip_335182	2	238419631:238419744:238427181:238427291:238434243:238434448	238427181:238427291	ENST00000409373.1	LUAD	rs3751107	chr2:238427251	G/A	5.98e-11
exon_skip_335182	2	238419631:238419744:238427181:238427291:238434243:238434448	238427181:238427291	ENST00000409373.1	OV	rs3751109	chr2:238427194	T/C	1.81e-03
exon_skip_335182	2	238419631:238419744:238427181:238427291:238434243:238434448	238427181:238427291	ENST00000409373.1	OV	rs3751107	chr2:238427251	G/A	1.81e-03
exon_skip_335182	2	238419631:238419744:238427181:238427291:238434243:238434448	238427181:238427291	ENST00000409373.1	OV	rs3751109	chr2:238427194	T/C	2.17e-03
exon_skip_335182	2	238419631:238419744:238427181:238427291:238434243:238434448	238427181:238427291	ENST00000409373.1	OV	rs3751107	chr2:238427251	G/A	2.17e-03
exon_skip_335182	2	238419631:238419744:238427181:238427291:238434243:238434448	238427181:238427291	ENST00000409373.1	PAAD	rs3751109	chr2:238427194	T/C	7.06e-06
exon_skip_335182	2	238419631:238419744:238427181:238427291:238434243:238434448	238427181:238427291	ENST00000409373.1	PAAD	rs3751107	chr2:238427251	G/A	7.06e-06
exon_skip_335182	2	238419631:238419744:238427181:238427291:238434243:238434448	238427181:238427291	ENST00000409373.1	PRAD	rs3751109	chr2:238427194	T/C	2.13e-11
exon_skip_335182	2	238419631:238419744:238427181:238427291:238434243:238434448	238427181:238427291	ENST00000409373.1	PRAD	rs3751107	chr2:238427251	G/A	2.13e-11
exon_skip_335182	2	238419631:238419744:238427181:238427291:238434243:238434448	238427181:238427291	ENST00000409373.1	STAD	rs3751109	chr2:238427194	T/C	1.07e-09
exon_skip_335182	2	238419631:238419744:238427181:238427291:238434243:238434448	238427181:238427291	ENST00000409373.1	STAD	rs3751107	chr2:238427251	G/A	1.07e-09
exon_skip_335182	2	238419631:238419744:238427181:238427291:238434243:238434448	238427181:238427291	ENST00000409373.1	THCA	rs3751109	chr2:238427194	T/C	1.16e-03
exon_skip_335182	2	238419631:238419744:238427181:238427291:238434243:238434448	238427181:238427291	ENST00000409373.1	THCA	rs3751107	chr2:238427251	G/A	1.16e-03
exon_skip_335182	2	238419631:238419744:238427181:238427291:238434243:238434448	238427181:238427291	ENST00000409373.1	UVM	rs3751109	chr2:238427194	T/C	2.78e-05
exon_skip_335182	2	238419631:238419744:238427181:238427291:238434243:238434448	238427181:238427291	ENST00000409373.1	UVM	rs3751107	chr2:238427251	G/A	2.78e-05
exon_skip_335280	2	238436077:238436159:238443206:238443290:238448990:238449035	238443206:238443290	ENST00000415753.1,ENST00000264605.3,ENST00000445024.2,ENST00000494110.1	LUAD	rs2292884	chr2:238443226	A/G	2.49e-07
exon_skip_335280	2	238436077:238436159:238443206:238443290:238448990:238449035	238443206:238443290	ENST00000415753.1,ENST00000264605.3,ENST00000445024.2,ENST00000494110.1	LUAD	rs2292884	chr2:238443226	A/G	2.14e-06
exon_skip_335280	2	238436077:238436159:238443206:238443290:238448990:238449035	238443206:238443290	ENST00000415753.1,ENST00000264605.3,ENST00000445024.2,ENST00000494110.1	LIHC	rs2292884	chr2:238443226	A/G	6.41e-04
exon_skip_335280	2	238436077:238436159:238443206:238443290:238448990:238449035	238443206:238443290	ENST00000415753.1,ENST00000264605.3,ENST00000445024.2,ENST00000494110.1	OV	rs2292884	chr2:238443226	A/G	8.80e-06
exon_skip_335280	2	238436077:238436159:238443206:238443290:238448990:238449035	238443206:238443290	ENST00000415753.1,ENST00000264605.3,ENST00000445024.2,ENST00000494110.1	PAAD	rs2292884	chr2:238443226	A/G	1.76e-04
exon_skip_335280	2	238436077:238436159:238443206:238443290:238448990:238449035	238443206:238443290	ENST00000415753.1,ENST00000264605.3,ENST00000445024.2,ENST00000494110.1	PRAD	rs2292884	chr2:238443226	A/G	3.18e-11
exon_skip_335280	2	238436077:238436159:238443206:238443290:238448990:238449035	238443206:238443290	ENST00000415753.1,ENST00000264605.3,ENST00000445024.2,ENST00000494110.1	PRAD	rs2292884	chr2:238443226	A/G	2.19e-10
exon_skip_335280	2	238436077:238436159:238443206:238443290:238448990:238449035	238443206:238443290	ENST00000415753.1,ENST00000264605.3,ENST00000445024.2,ENST00000494110.1	STAD	rs2292884	chr2:238443226	A/G	8.30e-12
exon_skip_335280	2	238436077:238436159:238443206:238443290:238448990:238449035	238443206:238443290	ENST00000415753.1,ENST00000264605.3,ENST00000445024.2,ENST00000494110.1	STAD	rs2292884	chr2:238443226	A/G	3.99e-06
exon_skip_335280	2	238436077:238436159:238443206:238443290:238448990:238449035	238443206:238443290	ENST00000415753.1,ENST00000264605.3,ENST00000445024.2,ENST00000494110.1	THCA	rs2292884	chr2:238443226	A/G	7.58e-17
exon_skip_335280	2	238436077:238436159:238443206:238443290:238448990:238449035	238443206:238443290	ENST00000415753.1,ENST00000264605.3,ENST00000445024.2,ENST00000494110.1	UVM	rs2292884	chr2:238443226	A/G	1.93e-08

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

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

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RelatedDrugs for MLPH

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 MLPH

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
MLPH	C1836573	GRISCELLI SYNDROME, TYPE 3	1	CTD_human;ORPHANET;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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