ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for TMBIM6

Gene summary

Gene information	Gene symbol	TMBIM6
	Gene ID	7009
	Gene name	transmembrane BAX inhibitor motif containing 6
	Synonyms	BAXI1\|BI-1\|TEGT
	Cytomap	12q13.12
	Type of gene	protein-coding
	Description	bax inhibitor 1testis enhanced gene transcripttestis-enhanced gene transcript proteintransmembrane BAX inhibitor motif-containing protein 6
	Modification date	20180519
	UniProtAcc	P55061
	Context	PubMed: TMBIM6 [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
TMBIM6	GO:0010523	negative regulation of calcium ion transport into cytosol	26582200
TMBIM6	GO:0032091	negative regulation of protein binding	19328063
TMBIM6	GO:0060702	negative regulation of endoribonuclease activity	19328063
TMBIM6	GO:1902065	response to L-glutamate	21075086
TMBIM6	GO:1902236	negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway	21075086
TMBIM6	GO:1903298	negative regulation of hypoxia-induced intrinsic apoptotic signaling pathway	21075086
TMBIM6	GO:2001234	negative regulation of apoptotic signaling pathway	21075086

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Exon skipping events across known transcript of Ensembl for TMBIM6 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 TMBIM6

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 TMBIM6

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_82008	12	50101515:50101622:50109163:50109326:50146246:50146307	50109163:50109326	ENSG00000139644.8	ENST00000551154.1
exon_skip_82009	12	50109163:50109326:50134984:50135112:50146246:50146307	50134984:50135112	ENSG00000139644.8	ENST00000548809.1
exon_skip_82015	12	50135356:50135394:50135739:50135898:50136220:50136390	50135739:50135898	ENSG00000139644.8	ENST00000550951.1
exon_skip_82018	12	50135356:50135394:50135739:50135898:50138195:50138325	50135739:50135898	ENSG00000139644.8	ENST00000547187.1
exon_skip_82020	12	50135356:50135394:50135739:50135898:50143400:50143517	50135739:50135898	ENSG00000139644.8	ENST00000549445.1
exon_skip_82021	12	50135356:50135394:50135739:50135898:50146246:50146307	50135739:50135898	ENSG00000139644.8	ENST00000549385.1
exon_skip_82023	12	50135356:50135394:50135739:50136063:50146246:50146307	50135739:50136063	ENSG00000139644.8	ENST00000552699.1
exon_skip_82029	12	50135356:50135394:50137199:50137348:50146246:50146307	50137199:50137348	ENSG00000139644.8	ENST00000546914.1
exon_skip_82032	12	50135356:50135394:50138195:50138325:50146246:50146307	50138195:50138325	ENSG00000139644.8	ENST00000547832.1
exon_skip_82035	12	50135356:50135394:50143400:50143517:50146248:50146332	50143400:50143517	ENSG00000139644.8	ENST00000549966.1
exon_skip_82036	12	50135356:50135394:50143400:50143639:50146246:50146307	50143400:50143639	ENSG00000139644.8	ENST00000548894.1
exon_skip_82052	12	50135739:50135898:50136220:50136390:50146246:50146307	50136220:50136390	ENSG00000139644.8	ENST00000550951.1,ENST00000548713.1
exon_skip_82057	12	50135739:50135898:50138195:50138325:50146246:50146307	50138195:50138325	ENSG00000139644.8	ENST00000547187.1
exon_skip_82060	12	50135739:50135898:50143400:50143639:50146246:50146307	50143400:50143639	ENSG00000139644.8	ENST00000549445.1
exon_skip_82069	12	50152009:50152058:50152134:50152263:50152465:50152469	50152134:50152263	ENSG00000139644.8	ENST00000552635.1
exon_skip_82070	12	50152009:50152058:50152165:50152263:50152465:50152469	50152165:50152263	ENSG00000139644.8	ENST00000549385.1,ENST00000395006.4,ENST00000547798.1,ENST00000547013.1,ENST00000423828.1,ENST00000552370.1,ENST00000552699.1,ENST00000550445.1,ENST00000267115.5
exon_skip_82073	12	50152165:50152263:50152465:50152545:50153003:50153104	50152465:50152545	ENSG00000139644.8	ENST00000549385.1,ENST00000395006.4,ENST00000547798.1,ENST00000547013.1,ENST00000423828.1,ENST00000552370.1,ENST00000552699.1,ENST00000267115.5
exon_skip_82077	12	50152465:50152545:50153003:50153104:50155486:50155562	50153003:50153104	ENSG00000139644.8	ENST00000549385.1,ENST00000395006.4,ENST00000547798.1,ENST00000547013.1,ENST00000423828.1,ENST00000552699.1,ENST00000267115.5
exon_skip_82082	12	50153003:50153104:50155486:50155562:50156655:50156877	50155486:50155562	ENSG00000139644.8	ENST00000549385.1,ENST00000395006.4,ENST00000547798.1,ENST00000423828.1,ENST00000552699.1,ENST00000549471.1,ENST00000267115.5

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for TMBIM6

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_82008	12	50101515:50101622:50109163:50109326:50146246:50146307	50109163:50109326	ENSG00000139644.8	ENST00000551154.1
exon_skip_82009	12	50109163:50109326:50134984:50135112:50146246:50146307	50134984:50135112	ENSG00000139644.8	ENST00000548809.1
exon_skip_82015	12	50135356:50135394:50135739:50135898:50136220:50136390	50135739:50135898	ENSG00000139644.8	ENST00000550951.1
exon_skip_82018	12	50135356:50135394:50135739:50135898:50138195:50138325	50135739:50135898	ENSG00000139644.8	ENST00000547187.1
exon_skip_82020	12	50135356:50135394:50135739:50135898:50143400:50143517	50135739:50135898	ENSG00000139644.8	ENST00000549445.1
exon_skip_82021	12	50135356:50135394:50135739:50135898:50146246:50146307	50135739:50135898	ENSG00000139644.8	ENST00000549385.1
exon_skip_82023	12	50135356:50135394:50135739:50136063:50146246:50146307	50135739:50136063	ENSG00000139644.8	ENST00000552699.1
exon_skip_82029	12	50135356:50135394:50137199:50137348:50146246:50146307	50137199:50137348	ENSG00000139644.8	ENST00000546914.1
exon_skip_82032	12	50135356:50135394:50138195:50138325:50146246:50146307	50138195:50138325	ENSG00000139644.8	ENST00000547832.1
exon_skip_82036	12	50135356:50135394:50143400:50143639:50146246:50146307	50143400:50143639	ENSG00000139644.8	ENST00000548894.1
exon_skip_82041	12	50135390:50135551:50135739:50135898:50136220:50136390	50135739:50135898	ENSG00000139644.8	ENST00000548713.1
exon_skip_82052	12	50135739:50135898:50136220:50136390:50146246:50146307	50136220:50136390	ENSG00000139644.8	ENST00000550951.1,ENST00000548713.1
exon_skip_82057	12	50135739:50135898:50138195:50138325:50146246:50146307	50138195:50138325	ENSG00000139644.8	ENST00000547187.1
exon_skip_82060	12	50135739:50135898:50143400:50143639:50146246:50146307	50143400:50143639	ENSG00000139644.8	ENST00000549445.1
exon_skip_82069	12	50152009:50152058:50152134:50152263:50152465:50152469	50152134:50152263	ENSG00000139644.8	ENST00000552635.1
exon_skip_82070	12	50152009:50152058:50152165:50152263:50152465:50152469	50152165:50152263	ENSG00000139644.8	ENST00000552699.1,ENST00000267115.5,ENST00000549385.1,ENST00000423828.1,ENST00000550445.1,ENST00000552370.1,ENST00000395006.4,ENST00000547798.1,ENST00000547013.1
exon_skip_82073	12	50152165:50152263:50152465:50152545:50153003:50153104	50152465:50152545	ENSG00000139644.8	ENST00000552699.1,ENST00000267115.5,ENST00000549385.1,ENST00000423828.1,ENST00000552370.1,ENST00000395006.4,ENST00000547798.1,ENST00000547013.1
exon_skip_82077	12	50152465:50152545:50153003:50153104:50155486:50155562	50153003:50153104	ENSG00000139644.8	ENST00000552699.1,ENST00000267115.5,ENST00000549385.1,ENST00000423828.1,ENST00000395006.4,ENST00000547798.1,ENST00000547013.1
exon_skip_82082	12	50153003:50153104:50155486:50155562:50156655:50156877	50155486:50155562	ENSG00000139644.8	ENST00000552699.1,ENST00000267115.5,ENST00000549385.1,ENST00000423828.1,ENST00000395006.4,ENST00000547798.1,ENST00000549471.1

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 TMBIM6

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
ENST00000549385	50135739	50135898	5UTR-5UTR
ENST00000267115	50152165	50152263	Frame-shift
ENST00000395006	50152165	50152263	Frame-shift
ENST00000549385	50152165	50152263	Frame-shift
ENST00000267115	50152465	50152545	Frame-shift
ENST00000395006	50152465	50152545	Frame-shift
ENST00000549385	50152465	50152545	Frame-shift
ENST00000267115	50153003	50153104	Frame-shift
ENST00000395006	50153003	50153104	Frame-shift
ENST00000549385	50153003	50153104	Frame-shift
ENST00000267115	50155486	50155562	Frame-shift
ENST00000395006	50155486	50155562	Frame-shift
ENST00000549385	50155486	50155562	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
ENST00000549385	50135739	50135898	5UTR-5UTR
ENST00000267115	50152165	50152263	Frame-shift
ENST00000395006	50152165	50152263	Frame-shift
ENST00000549385	50152165	50152263	Frame-shift
ENST00000267115	50152465	50152545	Frame-shift
ENST00000395006	50152465	50152545	Frame-shift
ENST00000549385	50152465	50152545	Frame-shift
ENST00000267115	50153003	50153104	Frame-shift
ENST00000395006	50153003	50153104	Frame-shift
ENST00000549385	50153003	50153104	Frame-shift
ENST00000267115	50155486	50155562	Frame-shift
ENST00000395006	50155486	50155562	Frame-shift
ENST00000549385	50155486	50155562	Frame-shift

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Infer the effects of exon skipping event on protein functional features for TMBIM6

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 TMBIM6

- 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.

TMBIM6_LIHC_exon_skip_82069_psi_boxplot.png
boxplot

TMBIM6_LIHC_exon_skip_82070_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-A39Y-01	exon_skip_82069 exon_skip_82070	50152135	50152263	50152216	50152216	Frame_Shift_Del	C	-	p.T187fs
LIHC	TCGA-DD-A39Y-01	exon_skip_82069 exon_skip_82070	50152166	50152263	50152216	50152216	Frame_Shift_Del	C	-	p.T187fs
LIHC	TCGA-DD-A39Y-01	exon_skip_82073	50152466	50152545	50152535	50152535	Frame_Shift_Del	G	-	p.W226fs
LIHC	TCGA-DD-A39Y-01	exon_skip_82073	50152466	50152545	50152538	50152538	Frame_Shift_Del	T	-	p.L227fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_82077	50153004	50153104	50153018	50153018	Frame_Shift_Del	G	-	p.V234fs
LIHC	TCGA-DD-A39Y-01	exon_skip_82077	50153004	50153104	50153047	50153047	Frame_Shift_Del	T	-	p.L244fs

- 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_82070
	Skipped exon start: 50152135
	Skipped exon end: 50152263
	Mutation start: 50152216
	Mutation end: 50152216
	Mutation type: Frame_Shift_Del
	Reference seq: C
	Mutation seq: -
	AAchange: p.T187fs
	Sample: TCGA-DD-A39Y-01
	Cancer type: LIHC
	ESID: exon_skip_82070
	Skipped exon start: 50152166
	Skipped exon end: 50152263
	Mutation start: 50152216
	Mutation end: 50152216
	Mutation type: Frame_Shift_Del
	Reference seq: C
	Mutation seq: -
	AAchange: p.T187fs
	Sample: TCGA-DD-A39Y-01
	Cancer type: LIHC
	ESID: exon_skip_82073
	Skipped exon start: 50152466
	Skipped exon end: 50152545
	Mutation start: 50152535
	Mutation end: 50152535
	Mutation type: Frame_Shift_Del
	Reference seq: G
	Mutation seq: -
	AAchange: p.W226fs
	Sample: TCGA-DD-A39Y-01
	Cancer type: LIHC
	ESID: exon_skip_82073
	Skipped exon start: 50152466
	Skipped exon end: 50152545
	Mutation start: 50152538
	Mutation end: 50152538
	Mutation type: Frame_Shift_Del
	Reference seq: T
	Mutation seq: -
	AAchange: p.L227fs
	Sample: TCGA-DD-A39Y-01
	Cancer type: LIHC
	ESID: exon_skip_82077
	Skipped exon start: 50153004
	Skipped exon end: 50153104
	Mutation start: 50153047
	Mutation end: 50153047
	Mutation type: Frame_Shift_Del
	Reference seq: T
	Mutation seq: -
	AAchange: p.L244fs
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
exon_skip_27038_LIHC_TCGA-DD-A39Y-01.png
exon_skip_27415_LIHC_TCGA-DD-A39Y-01.png
exon_skip_283977_LIHC_TCGA-DD-A39Y-01.png
exon_skip_284046_LIHC_TCGA-DD-A39Y-01.png
exon_skip_289275_LIHC_TCGA-DD-A39Y-01.png
exon_skip_291046_LIHC_TCGA-DD-A39Y-01.png
exon_skip_291218_LIHC_TCGA-DD-A39Y-01.png
exon_skip_291361_LIHC_TCGA-DD-A39Y-01.png
exon_skip_292293_LIHC_TCGA-DD-A39Y-01.png
exon_skip_292562_LIHC_TCGA-DD-A39Y-01.png
exon_skip_293040_LIHC_TCGA-DD-A39Y-01.png
exon_skip_293045_LIHC_TCGA-DD-A39Y-01.png
exon_skip_293052_LIHC_TCGA-DD-A39Y-01.png
exon_skip_293118_LIHC_TCGA-DD-A39Y-01.png
exon_skip_293546_LIHC_TCGA-DD-A39Y-01.png
exon_skip_293549_LIHC_TCGA-DD-A39Y-01.png
exon_skip_294064_LIHC_TCGA-DD-A39Y-01.png
exon_skip_294067_LIHC_TCGA-DD-A39Y-01.png
exon_skip_29565_LIHC_TCGA-DD-A39Y-01.png
exon_skip_29733_LIHC_TCGA-DD-A39Y-01.png
exon_skip_299242_LIHC_TCGA-DD-A39Y-01.png
exon_skip_299287_LIHC_TCGA-DD-A39Y-01.png
exon_skip_299304_LIHC_TCGA-DD-A39Y-01.png
exon_skip_299306_LIHC_TCGA-DD-A39Y-01.png
exon_skip_299307_LIHC_TCGA-DD-A39Y-01.png
exon_skip_30001_LIHC_TCGA-DD-A39Y-01.png
exon_skip_300924_LIHC_TCGA-DD-A39Y-01.png
exon_skip_301267_LIHC_TCGA-DD-A39Y-01.png
exon_skip_301272_LIHC_TCGA-DD-A39Y-01.png
exon_skip_302090_LIHC_TCGA-DD-A39Y-01.png
exon_skip_302094_LIHC_TCGA-DD-A39Y-01.png
exon_skip_302095_LIHC_TCGA-DD-A39Y-01.png
exon_skip_302097_LIHC_TCGA-DD-A39Y-01.png
exon_skip_3064_LIHC_TCGA-DD-A39Y-01.png
exon_skip_306549_LIHC_TCGA-DD-A39Y-01.png
exon_skip_30744_LIHC_TCGA-DD-A39Y-01.png
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	Sample: TCGA-DD-A39Y-01
	Cancer type: LIHC
	ESID: exon_skip_82070
	Skipped exon start: 50152135
	Skipped exon end: 50152263
	Mutation start: 50152216
	Mutation end: 50152216
	Mutation type: Frame_Shift_Del
	Reference seq: C
	Mutation seq: -
	AAchange: p.T187fs
	Sample: TCGA-DD-A39Y-01
	Cancer type: LIHC
	ESID: exon_skip_82070
	Skipped exon start: 50152166
	Skipped exon end: 50152263
	Mutation start: 50152216
	Mutation end: 50152216
	Mutation type: Frame_Shift_Del
	Reference seq: C
	Mutation seq: -
	AAchange: p.T187fs
	Sample: TCGA-DD-A39Y-01
	Cancer type: LIHC
	ESID: exon_skip_82073
	Skipped exon start: 50152466
	Skipped exon end: 50152545
	Mutation start: 50152535
	Mutation end: 50152535
	Mutation type: Frame_Shift_Del
	Reference seq: G
	Mutation seq: -
	AAchange: p.W226fs
	Sample: TCGA-DD-A39Y-01
	Cancer type: LIHC
	ESID: exon_skip_82073
	Skipped exon start: 50152466
	Skipped exon end: 50152545
	Mutation start: 50152538
	Mutation end: 50152538
	Mutation type: Frame_Shift_Del
	Reference seq: T
	Mutation seq: -
	AAchange: p.L227fs
	Sample: TCGA-DD-A39Y-01
	Cancer type: LIHC
	ESID: exon_skip_82077
	Skipped exon start: 50153004
	Skipped exon end: 50153104
	Mutation start: 50153047
	Mutation end: 50153047
	Mutation type: Frame_Shift_Del
	Reference seq: T
	Mutation seq: -
	AAchange: p.L244fs
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- 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
IPC298_SKIN	50152135	50152263	50152170	50152170	Missense_Mutation	C	T	p.L114F
IPC298_SKIN	50152166	50152263	50152170	50152170	Missense_Mutation	C	T	p.L114F
HCC44_LUNG	50152466	50152545	50152508	50152508	Missense_Mutation	T	C	p.L159P

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for TMBIM6

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_82029	12	50135356:50135394:50137199:50137348:50146246:50146307	50137199:50137348	ENST00000546914.1	HNSC	rs897056	chr12:50137281	T/A	1.26e-03

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TMBIM6

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TMBIM6

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RelatedDrugs for TMBIM6

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 TMBIM6

Diseases associated with this gene.
(DisGeNet 4.0)

Gene

Disease ID

Disease name

# pubmeds

Source

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

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