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Center for Computational Systems Medicine
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Gene summary

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Gene structures and expression levels

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Exon skipping events with PSIs in TCGA

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Exon skipping events with PSIs in GTEx

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

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Exon skipping events in the canonical protein sequence

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SNVs in the skipped exons with depth of coverage

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Splicing Quantitative Trait Loci (sQTLs) in the skipped exons

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon

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Related drugs with this gene

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Related diseases with this gene

Gene summary for TMEM8B

check button Gene summary
Gene informationGene symbol

TMEM8B

Gene ID

51754

Gene nametransmembrane protein 8B
SynonymsC9orf127|NAG-5|NAG5|NGX6
Cytomap

9p13.3

Type of geneprotein-coding
Descriptiontransmembrane protein 8Bnasopharyngeal carcinoma expressed 6nasopharyngeal carcinoma related proteinnasopharyngeal carcinoma-associated gene 6 protein
Modification date20180525
UniProtAcc

A6NDV4

ContextPubMed: TMEM8B [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract]
- Title (PMID)

check button Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez
GeneGO IDGO termPubMed ID

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Exon skipping events across known transcript of Ensembl for TMEM8B from UCSC genome browser

check buttonSkipped 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.
all structure

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Gene isoform structures and expression levels for TMEM8B

check button Expression levels of gene isoforms across TCGA.
gencode gene structure

check button Expression levels of gene isoforms across GTEx.
gencode gene structure


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Exon skipping events with PSIs in TCGA for TMEM8B

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_495786935829878:35829952:35834457:35834647:35835007:3583521535834457:35834647ENSG00000137103.12ENST00000472010.1,ENST00000377991.4,ENST00000377988.2,ENST00000439587.2
exon_skip_495801935829873:35829952:35841130:35841264:35842388:3584246435841130:35841264ENSG00000137103.12ENST00000490199.2
exon_skip_495812935834457:35834647:35835007:35835215:35841130:3584125835835007:35835215ENSG00000137103.12ENST00000472010.1,ENST00000377991.4,ENST00000377988.2,ENST00000439587.2
exon_skip_495824935841130:35841264:35841522:35841791:35842388:3584246435841522:35841791ENSG00000137103.12ENST00000464519.2,ENST00000377991.4,ENST00000377988.2,ENST00000377996.1,ENST00000439587.2
exon_skip_495828935841537:35841791:35842388:35842714:35845971:3584606535842388:35842714ENSG00000137103.12ENST00000377991.4,ENST00000377988.2,ENST00000377996.1,ENST00000439587.2
exon_skip_495838935845971:35846065:35846254:35846378:35846465:3584660835846254:35846378ENSG00000137103.12ENST00000377991.4,ENST00000377988.2,ENST00000377996.1,ENST00000439587.2
exon_skip_495842935846254:35846378:35846465:35846608:35846813:3584699235846465:35846608ENSG00000137103.12ENST00000377991.4,ENST00000377988.2,ENST00000377996.1,ENST00000439587.2
exon_skip_495843935852823:35852970:35853137:35853254:35853501:3585484335853137:35853254ENSG00000137103.12ENST00000377991.4,ENST00000377988.2

check button PSI values of skipped exons in TCGA.
psi tcga

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Exon skipping events with PSIs in GTEx for TMEM8B

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_495785935829873:35829952:35834457:35834645:35835284:3583543835834457:35834645ENSG00000137103.12ENST00000473947.1
exon_skip_495786935829878:35829952:35834457:35834647:35835007:3583521535834457:35834647ENSG00000137103.12ENST00000439587.2,ENST00000377991.4,ENST00000377988.2,ENST00000472010.1
exon_skip_495801935829873:35829952:35841130:35841264:35842388:3584246435841130:35841264ENSG00000137103.12ENST00000490199.2
exon_skip_495812935834457:35834647:35835007:35835215:35841130:3584125835835007:35835215ENSG00000137103.12ENST00000439587.2,ENST00000377991.4,ENST00000377988.2,ENST00000472010.1
exon_skip_495824935841130:35841264:35841522:35841791:35842388:3584246435841522:35841791ENSG00000137103.12ENST00000377996.1,ENST00000439587.2,ENST00000377991.4,ENST00000464519.2,ENST00000377988.2
exon_skip_495828935841537:35841791:35842388:35842714:35845971:3584606535842388:35842714ENSG00000137103.12ENST00000377996.1,ENST00000439587.2,ENST00000377991.4,ENST00000377988.2
exon_skip_495838935845971:35846065:35846254:35846378:35846465:3584660835846254:35846378ENSG00000137103.12ENST00000377996.1,ENST00000439587.2,ENST00000377991.4,ENST00000377988.2
exon_skip_495842935846254:35846378:35846465:35846608:35846813:3584699235846465:35846608ENSG00000137103.12ENST00000377996.1,ENST00000439587.2,ENST00000377991.4,ENST00000377988.2
exon_skip_495843935852823:35852970:35853137:35853254:35853501:3585484335853137:35853254ENSG00000137103.12ENST00000377991.4,ENST00000377988.2

check button PSI values of skipped exons in GTEx.
psi gtex

* Skipped exon sequences.

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Open reading frame (ORF) annotation in the exon skipping event for TMEM8B

check button Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST0000037798835842388358427145CDS-5UTR
ENST0000037799135842388358427145CDS-5UTR
ENST0000037798835834457358346475UTR-5UTR
ENST0000037799135834457358346475UTR-5UTR
ENST0000037798835835007358352155UTR-5UTR
ENST0000037799135835007358352155UTR-5UTR
ENST0000037798835841522358417915UTR-5UTR
ENST0000037799135841522358417915UTR-5UTR
ENST000003779883584625435846378Frame-shift
ENST000003779913584625435846378Frame-shift
ENST000003779883584646535846608Frame-shift
ENST000003779913584646535846608Frame-shift
ENST000003779883585313735853254In-frame
ENST000003779913585313735853254In-frame

check button Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST0000037798835842388358427145CDS-5UTR
ENST0000037799135842388358427145CDS-5UTR
ENST0000037798835834457358346475UTR-5UTR
ENST0000037799135834457358346475UTR-5UTR
ENST0000037798835835007358352155UTR-5UTR
ENST0000037799135835007358352155UTR-5UTR
ENST0000037798835841522358417915UTR-5UTR
ENST0000037799135841522358417915UTR-5UTR
ENST000003779883584625435846378Frame-shift
ENST000003779913584625435846378Frame-shift
ENST000003779883584646535846608Frame-shift
ENST000003779913584646535846608Frame-shift
ENST000003779883585313735853254In-frame
ENST000003779913585313735853254In-frame

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Infer the effects of exon skipping event on protein functional features for TMEM8B

check button Exon skipping at the protein sequence level and followed lost functional features.
* Click on the image to enlarge it in a new window.
prot feature distribution

check button Loci of skipped exons in TCGA across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST000003779883730472358531373585325422552371322361
ENST000003779913458472358531373585325419822098322361

check button Loci of skipped exons in GTEx across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST000003779883730472358531373585325422552371322361
ENST000003779913458472358531373585325419822098322361

check button 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 featureDescription of feature
A6NDV4322361274337Alternative sequenceID=VSP_033452;Note=In isoform 2 and isoform 3. FYHACDQPGIVVFCIMDYDVLQFCDFLGSLMSVWVTVIAMARLQPVVKQVLYLLGAMLLSMALQ->VCGGVCILSLGACAWWWVTVCISTTFSEGLGMSVPSLCLLQTETAVLPKLSCIDNGHFCKTHWSK;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0
A6NDV4322361274337Alternative sequenceID=VSP_033452;Note=In isoform 2 and isoform 3. FYHACDQPGIVVFCIMDYDVLQFCDFLGSLMSVWVTVIAMARLQPVVKQVLYLLGAMLLSMALQ->VCGGVCILSLGACAWWWVTVCISTTFSEGLGMSVPSLCLLQTETAVLPKLSCIDNGHFCKTHWSK;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0
A6NDV4322361338472Alternative sequenceID=VSP_033453;Note=In isoform 2 and isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:11565907,ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334,ECO:0000303|Ref.2;Dbxref=PMID:11565907,PMID:1
A6NDV4322361338472Alternative sequenceID=VSP_033453;Note=In isoform 2 and isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:11565907,ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334,ECO:0000303|Ref.2;Dbxref=PMID:11565907,PMID:1
A6NDV43223611472ChainID=PRO_0000333039;Note=Transmembrane protein 8B
A6NDV43223611472ChainID=PRO_0000333039;Note=Transmembrane protein 8B
A6NDV4322361337342Topological domainNote=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
A6NDV4322361337342Topological domainNote=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
A6NDV4322361316336TransmembraneNote=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
A6NDV4322361316336TransmembraneNote=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
A6NDV4322361343363TransmembraneNote=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
A6NDV4322361343363TransmembraneNote=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255


check button 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 featureDescription of feature
A6NDV4322361274337Alternative sequenceID=VSP_033452;Note=In isoform 2 and isoform 3. FYHACDQPGIVVFCIMDYDVLQFCDFLGSLMSVWVTVIAMARLQPVVKQVLYLLGAMLLSMALQ->VCGGVCILSLGACAWWWVTVCISTTFSEGLGMSVPSLCLLQTETAVLPKLSCIDNGHFCKTHWSK;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0
A6NDV4322361274337Alternative sequenceID=VSP_033452;Note=In isoform 2 and isoform 3. FYHACDQPGIVVFCIMDYDVLQFCDFLGSLMSVWVTVIAMARLQPVVKQVLYLLGAMLLSMALQ->VCGGVCILSLGACAWWWVTVCISTTFSEGLGMSVPSLCLLQTETAVLPKLSCIDNGHFCKTHWSK;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0
A6NDV4322361338472Alternative sequenceID=VSP_033453;Note=In isoform 2 and isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:11565907,ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334,ECO:0000303|Ref.2;Dbxref=PMID:11565907,PMID:1
A6NDV4322361338472Alternative sequenceID=VSP_033453;Note=In isoform 2 and isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:11565907,ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334,ECO:0000303|Ref.2;Dbxref=PMID:11565907,PMID:1
A6NDV43223611472ChainID=PRO_0000333039;Note=Transmembrane protein 8B
A6NDV43223611472ChainID=PRO_0000333039;Note=Transmembrane protein 8B
A6NDV4322361337342Topological domainNote=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
A6NDV4322361337342Topological domainNote=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
A6NDV4322361316336TransmembraneNote=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
A6NDV4322361316336TransmembraneNote=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
A6NDV4322361343363TransmembraneNote=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
A6NDV4322361343363TransmembraneNote=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255


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SNVs in the skipped exons for TMEM8B

check button - Lollipop plot for presenting exon skipping associated SNVs.
* Click on the image to enlarge it in a new window.
lollipop

check button - Differential PSIs between mutated versus non-mutated samples.
TMEM8B_LIHC_exon_skip_495824_psi_boxplot.png
boxplot

check button - Non-synonymous mutations located in the skipped exons in TCGA.
Cancer typeSampleESIDSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
LIHCTCGA-DD-A3A0-01exon_skip_495828
35842389358427143584245635842456Frame_Shift_DelG-p.L7fs
LIHCTCGA-BC-A10Z-01exon_skip_495824
35841523358417913584179335841793Splice_SiteTA.
LUSCTCGA-46-3768-01exon_skip_495843
35853138358532543585313735853137Splice_SiteGTp.V323_splice

check button - Depth of coverage in the three exons composing exon skipping event
Depth of coverage in three exonsMutation description
TMEM8B_35841130_35841264_35841522_35841791_35842388_35842464_TCGA-BC-A10Z-01Sample: TCGA-BC-A10Z-01
Cancer type: LIHC
ESID: exon_skip_495824
Skipped exon start: 35841523
Skipped exon end: 35841791
Mutation start: 35841793
Mutation end: 35841793
Mutation type: Splice_Site
Reference seq: T
Mutation seq: A
AAchange: .
exon_skip_495824_LIHC_TCGA-BC-A10Z-01.png
boxplot

check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
HCT15_LARGE_INTESTINE35842389358427143584261135842611Missense_MutationCAp.P59Q
OC316_OVARY35842389358427143584261435842614Missense_MutationGAp.S60N
OC314_OVARY35842389358427143584261435842614Missense_MutationGAp.S60N
HUNS1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE35842389358427143584268535842685Missense_MutationGAp.V84I
HEC265_ENDOMETRIUM35846255358463783584635135846351Missense_MutationTCp.L157P
NCIH1963_LUNG35846466358466083584650735846507Missense_MutationGTp.R180L
MDAMB468_BREAST35846466358466083584650735846507Missense_MutationGAp.R180H
NCIH446_LUNG35853138358532543585317535853175Missense_MutationCTp.A335V
SW480_LARGE_INTESTINE35853138358532543585322735853227Missense_MutationCGp.F352L
HEC1_ENDOMETRIUM35853138358532543585318935853189Nonsense_MutationCTp.R340*
MDAMB453_BREAST35846255358463783584637735846377Splice_SiteCTp.R166W

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for TMEM8B

check button sQTL information located at the skipped exons.
Exon skip IDChromosomeThree exonsSkippped exonENSTCancer typeSNP idLocationDNA change (ref/var)P-value
exon_skip_495824935841130:35841264:35841522:35841791:35842388:3584246435841522:35841791ENST00000464519.2,ENST00000377991.4,ENST00000377988.2,ENST00000377996.1,ENST00000439587.2BRCArs2236293chr9:35841783G/A9.89e-07
exon_skip_495824935841130:35841264:35841522:35841791:35842388:3584246435841522:35841791ENST00000464519.2,ENST00000377991.4,ENST00000377988.2,ENST00000377996.1,ENST00000439587.2BRCArs2236293chr9:35841783G/A1.68e-05
exon_skip_495824935841130:35841264:35841522:35841791:35842388:3584246435841522:35841791ENST00000464519.2,ENST00000377991.4,ENST00000377988.2,ENST00000377996.1,ENST00000439587.2LGGrs2236293chr9:35841783G/A2.34e-03
exon_skip_495824935841130:35841264:35841522:35841791:35842388:3584246435841522:35841791ENST00000464519.2,ENST00000377991.4,ENST00000377988.2,ENST00000377996.1,ENST00000439587.2OVrs2236293chr9:35841783G/A3.93e-04
exon_skip_495824935841130:35841264:35841522:35841791:35842388:3584246435841522:35841791ENST00000464519.2,ENST00000377991.4,ENST00000377988.2,ENST00000377996.1,ENST00000439587.2OVrs2236293chr9:35841783G/A7.21e-04
exon_skip_495824935841130:35841264:35841522:35841791:35842388:3584246435841522:35841791ENST00000464519.2,ENST00000377991.4,ENST00000377988.2,ENST00000377996.1,ENST00000439587.2PCPGrs2236293chr9:35841783G/A2.02e-05
exon_skip_495824935841130:35841264:35841522:35841791:35842388:3584246435841522:35841791ENST00000464519.2,ENST00000377991.4,ENST00000377988.2,ENST00000377996.1,ENST00000439587.2PCPGrs2236293chr9:35841783G/A7.65e-04
exon_skip_495824935841130:35841264:35841522:35841791:35842388:3584246435841522:35841791ENST00000464519.2,ENST00000377991.4,ENST00000377988.2,ENST00000377996.1,ENST00000439587.2PAADrs2236293chr9:35841783G/A6.76e-04
exon_skip_495824935841130:35841264:35841522:35841791:35842388:3584246435841522:35841791ENST00000464519.2,ENST00000377991.4,ENST00000377988.2,ENST00000377996.1,ENST00000439587.2PRADrs2236293chr9:35841783G/A4.79e-06
exon_skip_495824935841130:35841264:35841522:35841791:35842388:3584246435841522:35841791ENST00000464519.2,ENST00000377991.4,ENST00000377988.2,ENST00000377996.1,ENST00000439587.2PRADrs2236293chr9:35841783G/A1.33e-03
exon_skip_495824935841130:35841264:35841522:35841791:35842388:3584246435841522:35841791ENST00000464519.2,ENST00000377991.4,ENST00000377988.2,ENST00000377996.1,ENST00000439587.2PRADrs2236293chr9:35841783G/A1.96e-03
exon_skip_495824935841130:35841264:35841522:35841791:35842388:3584246435841522:35841791ENST00000464519.2,ENST00000377991.4,ENST00000377988.2,ENST00000377996.1,ENST00000439587.2THCArs2236293chr9:35841783G/A1.93e-03
exon_skip_495824935841130:35841264:35841522:35841791:35842388:3584246435841522:35841791ENST00000464519.2,ENST00000377991.4,ENST00000377988.2,ENST00000377996.1,ENST00000439587.2THCArs2236293chr9:35841783G/A3.81e-03

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TMEM8B


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TMEM8B


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RelatedDrugs for TMEM8B

check button Approved drugs targeting this gene.
(DrugBank Version 5.1.0 2018-04-02)
GeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for TMEM8B

check button Diseases associated with this gene.
(DisGeNet 4.0)
GeneDisease IDDisease name# pubmedsSource