ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for TMEM161B

Gene summary

Gene information	Gene symbol	TMEM161B
	Gene ID	153396
	Gene name	transmembrane protein 161B
	Synonyms	FLB3342\|PRO1313
	Cytomap	5q14.3
	Type of gene	protein-coding
	Description	transmembrane protein 161B
	Modification date	20180519
	UniProtAcc	Q8NDZ6
	Context	PubMed: TMEM161B [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 TMEM161B 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 TMEM161B

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 TMEM161B

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_443107	5	87492192:87492305:87493485:87493582:87494792:87494886	87493485:87493582	ENSG00000164180.9	ENST00000514135.1,ENST00000512429.1,ENST00000511087.1,ENST00000296595.6,ENST00000511218.1
exon_skip_443114	5	87492192:87492305:87494792:87494967:87498778:87498892	87494792:87494967	ENSG00000164180.9	ENST00000506536.1
exon_skip_443117	5	87498778:87498892:87501570:87501771:87502255:87502316	87501570:87501771	ENSG00000164180.9	ENST00000510089.1
exon_skip_443118	5	87498778:87498892:87501617:87501771:87502255:87502316	87501617:87501771	ENSG00000164180.9	ENST00000511087.1
exon_skip_443119	5	87498778:87498892:87501630:87501771:87502255:87502316	87501630:87501771	ENSG00000164180.9	ENST00000514135.1,ENST00000509387.1,ENST00000512429.1,ENST00000296595.6,ENST00000506536.1,ENST00000511218.1,ENST00000507872.1
exon_skip_443122	5	87516431:87516536:87517117:87517288:87521585:87521683	87517117:87517288	ENSG00000164180.9	ENST00000515477.1
exon_skip_443124	5	87516431:87516536:87517490:87517577:87521585:87521683	87517490:87517577	ENSG00000164180.9	ENST00000511087.1
exon_skip_443126	5	87516475:87516536:87521585:87521683:87524261:87524345	87521585:87521683	ENSG00000164180.9	ENST00000514135.1,ENST00000509387.1,ENST00000512429.1,ENST00000296595.6,ENST00000506536.1,ENST00000510089.1,ENST00000507872.1,ENST00000513487.1
exon_skip_443128	5	87516431:87516536:87524261:87524345:87564537:87564616	87524261:87524345	ENSG00000164180.9	ENST00000503755.1
exon_skip_443132	5	87517117:87517288:87521585:87521683:87524261:87524345	87521585:87521683	ENSG00000164180.9	ENST00000515477.1
exon_skip_443133	5	87517490:87517577:87521585:87521683:87524261:87524345	87521585:87521683	ENSG00000164180.9	ENST00000511087.1
exon_skip_443134	5	87524275:87524345:87536629:87536733:87564537:87564616	87536629:87536733	ENSG00000164180.9	ENST00000511087.1,ENST00000296595.6,ENST00000507872.1,ENST00000515477.1
exon_skip_443135	5	87524275:87524345:87536629:87536733:87564604:87564665	87536629:87536733	ENSG00000164180.9	ENST00000503194.1
exon_skip_443136	5	87536629:87536733:87555048:87555180:87564537:87564646	87555048:87555180	ENSG00000164180.9	ENST00000512429.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for TMEM161B

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_443107	5	87492192:87492305:87493485:87493582:87494792:87494886	87493485:87493582	ENSG00000164180.9	ENST00000514135.1,ENST00000511087.1,ENST00000296595.6,ENST00000511218.1,ENST00000512429.1
exon_skip_443114	5	87492192:87492305:87494792:87494967:87498778:87498892	87494792:87494967	ENSG00000164180.9	ENST00000506536.1
exon_skip_443117	5	87498778:87498892:87501570:87501771:87502255:87502316	87501570:87501771	ENSG00000164180.9	ENST00000510089.1
exon_skip_443118	5	87498778:87498892:87501617:87501771:87502255:87502316	87501617:87501771	ENSG00000164180.9	ENST00000511087.1
exon_skip_443119	5	87498778:87498892:87501630:87501771:87502255:87502316	87501630:87501771	ENSG00000164180.9	ENST00000514135.1,ENST00000296595.6,ENST00000506536.1,ENST00000511218.1,ENST00000512429.1,ENST00000507872.1,ENST00000509387.1
exon_skip_443122	5	87516431:87516536:87517117:87517288:87521585:87521683	87517117:87517288	ENSG00000164180.9	ENST00000515477.1
exon_skip_443124	5	87516431:87516536:87517490:87517577:87521585:87521683	87517490:87517577	ENSG00000164180.9	ENST00000511087.1
exon_skip_443126	5	87516475:87516536:87521585:87521683:87524261:87524345	87521585:87521683	ENSG00000164180.9	ENST00000514135.1,ENST00000510089.1,ENST00000296595.6,ENST00000506536.1,ENST00000512429.1,ENST00000507872.1,ENST00000509387.1,ENST00000513487.1
exon_skip_443128	5	87516431:87516536:87524261:87524345:87564537:87564616	87524261:87524345	ENSG00000164180.9	ENST00000503755.1
exon_skip_443132	5	87517117:87517288:87521585:87521683:87524261:87524345	87521585:87521683	ENSG00000164180.9	ENST00000515477.1
exon_skip_443133	5	87517490:87517577:87521585:87521683:87524261:87524345	87521585:87521683	ENSG00000164180.9	ENST00000511087.1
exon_skip_443134	5	87524275:87524345:87536629:87536733:87564537:87564616	87536629:87536733	ENSG00000164180.9	ENST00000511087.1,ENST00000296595.6,ENST00000507872.1,ENST00000515477.1
exon_skip_443135	5	87524275:87524345:87536629:87536733:87564604:87564665	87536629:87536733	ENSG00000164180.9	ENST00000503194.1

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 TMEM161B

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
ENST00000296595	87493485	87493582	Frame-shift
ENST00000296595	87521585	87521683	Frame-shift
ENST00000296595	87536629	87536733	Frame-shift
ENST00000296595	87501630	87501771	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
ENST00000296595	87493485	87493582	Frame-shift
ENST00000296595	87521585	87521683	Frame-shift
ENST00000296595	87536629	87536733	Frame-shift
ENST00000296595	87501630	87501771	In-frame

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Infer the effects of exon skipping event on protein functional features for TMEM161B

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
ENST00000296595	2611	487	87501630	87501771	785	925	220	266

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
ENST00000296595	2611	487	87501630	87501771	785	925	220	266

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
Q8NDZ6	220	266	1	487	Chain	ID=PRO_0000288089;Note=Transmembrane protein 161B
Q8NDZ6	220	266	228	248	Transmembrane	Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q8NDZ6	220	266	265	285	Transmembrane	Note=Helical;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
Q8NDZ6	220	266	1	487	Chain	ID=PRO_0000288089;Note=Transmembrane protein 161B
Q8NDZ6	220	266	228	248	Transmembrane	Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q8NDZ6	220	266	265	285	Transmembrane	Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255

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SNVs in the skipped exons for TMEM161B

- 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.

- 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_443114	87494793	87494967	87494795	87494795	Frame_Shift_Del	T	-	p.M363fs
LIHC	TCGA-DD-A1EG-01	exon_skip_443117	87501571	87501771	87501638	87501638	Frame_Shift_Del	T	-	p.I265fs
LIHC	TCGA-DD-A1EG-01	exon_skip_443118 exon_skip_443119	87501618	87501771	87501638	87501638	Frame_Shift_Del	T	-	p.I265fs
LIHC	TCGA-DD-A1EG-01	exon_skip_443118 exon_skip_443119	87501631	87501771	87501638	87501638	Frame_Shift_Del	T	-	p.I265fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_443117	87501571	87501771	87501638	87501638	Frame_Shift_Del	T	-	p.I265fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_443118 exon_skip_443119	87501618	87501771	87501638	87501638	Frame_Shift_Del	T	-	p.I265fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_443118 exon_skip_443119	87501631	87501771	87501638	87501638	Frame_Shift_Del	T	-	p.I265fs
LIHC	TCGA-DD-A1EG-01	exon_skip_443117	87501571	87501771	87501703	87501703	Frame_Shift_Del	A	-	p.L243fs
LIHC	TCGA-DD-A1EG-01	exon_skip_443118 exon_skip_443119	87501618	87501771	87501703	87501703	Frame_Shift_Del	A	-	p.L243fs
LIHC	TCGA-DD-A1EG-01	exon_skip_443118 exon_skip_443119	87501631	87501771	87501703	87501703	Frame_Shift_Del	A	-	p.L243fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_443117	87501571	87501771	87501703	87501703	Frame_Shift_Del	A	-	p.L243fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_443118 exon_skip_443119	87501618	87501771	87501703	87501703	Frame_Shift_Del	A	-	p.L243fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_443118 exon_skip_443119	87501631	87501771	87501703	87501703	Frame_Shift_Del	A	-	p.L243fs
LIHC	TCGA-DD-A39Y-01	exon_skip_443126 exon_skip_443132 exon_skip_443133	87521586	87521683	87521612	87521612	Frame_Shift_Del	T	-	p.K88fs
STAD	TCGA-IP-7968-01	exon_skip_443117	87501571	87501771	87501702	87501703	Frame_Shift_Ins	-	A	p.L243fs
STAD	TCGA-IP-7968-01	exon_skip_443118 exon_skip_443119	87501618	87501771	87501702	87501703	Frame_Shift_Ins	-	A	p.L243fs
STAD	TCGA-IP-7968-01	exon_skip_443118 exon_skip_443119	87501631	87501771	87501702	87501703	Frame_Shift_Ins	-	A	p.L243fs
STAD	TCGA-IP-7968-01	exon_skip_443117	87501571	87501771	87501703	87501704	Frame_Shift_Ins	-	A	p.L243fs
STAD	TCGA-IP-7968-01	exon_skip_443118 exon_skip_443119	87501618	87501771	87501703	87501704	Frame_Shift_Ins	-	A	p.L243fs
STAD	TCGA-IP-7968-01	exon_skip_443118 exon_skip_443119	87501631	87501771	87501703	87501704	Frame_Shift_Ins	-	A	p.L243fs
KICH	TCGA-KN-8428-01	exon_skip_443114	87494793	87494967	87494939	87494939	Nonsense_Mutation	G	A	p.R315*
KICH	TCGA-KN-8428-01	exon_skip_443114	87494793	87494967	87494939	87494939	Nonsense_Mutation	G	A	p.R315X

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

Depth of coverage in three exons

Mutation description

- 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
JHUEM1_ENDOMETRIUM	87493486	87493582	87493533	87493533	Missense_Mutation	G	A	p.A380V
LN464_CENTRAL_NERVOUS_SYSTEM	87493486	87493582	87493578	87493578	Missense_Mutation	G	A	p.A365V
ACN_AUTONOMIC_GANGLIA	87493486	87493582	87493578	87493578	Missense_Mutation	G	A	p.A365V
SKGIIIA_CERVIX	87494793	87494967	87494838	87494838	Missense_Mutation	C	T	p.M348I
SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	87494793	87494967	87494890	87494890	Missense_Mutation	C	T	p.R331H
OVK18_OVARY	87494793	87494967	87494891	87494891	Missense_Mutation	G	A	p.R331C
BICR18_UPPER_AERODIGESTIVE_TRACT	87501618	87501771	87501653	87501653	Missense_Mutation	A	T	p.L260M
BICR18_UPPER_AERODIGESTIVE_TRACT	87501631	87501771	87501653	87501653	Missense_Mutation	A	T	p.L260M
BICR18_UPPER_AERODIGESTIVE_TRACT	87501571	87501771	87501653	87501653	Missense_Mutation	A	T	p.L260M
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	87501618	87501771	87501653	87501653	Missense_Mutation	A	T	p.L260M
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	87501631	87501771	87501653	87501653	Missense_Mutation	A	T	p.L260M
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	87501571	87501771	87501653	87501653	Missense_Mutation	A	T	p.L260M
DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	87501618	87501771	87501653	87501653	Missense_Mutation	A	T	p.L260M
DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	87501631	87501771	87501653	87501653	Missense_Mutation	A	T	p.L260M
DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	87501571	87501771	87501653	87501653	Missense_Mutation	A	T	p.L260M
OCIAML5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	87501618	87501771	87501653	87501653	Missense_Mutation	A	T	p.L260M
OCIAML5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	87501631	87501771	87501653	87501653	Missense_Mutation	A	T	p.L260M
OCIAML5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	87501571	87501771	87501653	87501653	Missense_Mutation	A	T	p.L260M
BICR18_UPPER_AERODIGESTIVE_TRACT	87501618	87501771	87501719	87501719	Missense_Mutation	A	G	p.F238L
BICR18_UPPER_AERODIGESTIVE_TRACT	87501631	87501771	87501719	87501719	Missense_Mutation	A	G	p.F238L
BICR18_UPPER_AERODIGESTIVE_TRACT	87501571	87501771	87501719	87501719	Missense_Mutation	A	G	p.F238L
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	87501618	87501771	87501719	87501719	Missense_Mutation	A	G	p.F238L
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	87501631	87501771	87501719	87501719	Missense_Mutation	A	G	p.F238L
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	87501571	87501771	87501719	87501719	Missense_Mutation	A	G	p.F238L
BICR18_UPPER_AERODIGESTIVE_TRACT	87501618	87501771	87501731	87501731	Missense_Mutation	T	C	p.I234V
BICR18_UPPER_AERODIGESTIVE_TRACT	87501631	87501771	87501731	87501731	Missense_Mutation	T	C	p.I234V
BICR18_UPPER_AERODIGESTIVE_TRACT	87501571	87501771	87501731	87501731	Missense_Mutation	T	C	p.I234V
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	87501618	87501771	87501731	87501731	Missense_Mutation	T	C	p.I234V
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	87501631	87501771	87501731	87501731	Missense_Mutation	T	C	p.I234V
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	87501571	87501771	87501731	87501731	Missense_Mutation	T	C	p.I234V
PFSK1_CENTRAL_NERVOUS_SYSTEM	87524262	87524345	87524286	87524286	Missense_Mutation	T	C	p.Q56R
SF539_CENTRAL_NERVOUS_SYSTEM	87524262	87524345	87524299	87524299	Missense_Mutation	C	A	p.A52S
HCT15_LARGE_INTESTINE	87536630	87536733	87536678	87536678	Missense_Mutation	T	C	p.K20R
BICR18_UPPER_AERODIGESTIVE_TRACT	87501618	87501771	87501770	87501770	Splice_Site	T	C	p.S221G
BICR18_UPPER_AERODIGESTIVE_TRACT	87501631	87501771	87501770	87501770	Splice_Site	T	C	p.S221G
BICR18_UPPER_AERODIGESTIVE_TRACT	87501571	87501771	87501770	87501770	Splice_Site	T	C	p.S221G

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for TMEM161B

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 TMEM161B

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TMEM161B

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RelatedDrugs for TMEM161B

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 TMEM161B

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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Gene summary for TMEM161B

Exon skipping events across known transcript of Ensembl for TMEM161B from UCSC genome browser

Gene isoform structures and expression levels for TMEM161B

Exon skipping events with PSIs in TCGA for TMEM161B

Exon skipping events with PSIs in GTEx for TMEM161B

Open reading frame (ORF) annotation in the exon skipping event for TMEM161B

Infer the effects of exon skipping event on protein functional features for TMEM161B

SNVs in the skipped exons for TMEM161B

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for TMEM161B

Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TMEM161B

Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TMEM161B

RelatedDrugs for TMEM161B

RelatedDiseases for TMEM161B