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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 MERTK

check button Gene summary
Gene informationGene symbol

MERTK

Gene ID

10461

Gene nameMER proto-oncogene, tyrosine kinase
SynonymsMER|RP38|Tyro12|c-Eyk|c-mer
Cytomap

2q13

Type of geneprotein-coding
Descriptiontyrosine-protein kinase MerMER receptor tyrosine kinaseSTK kinasec-mer proto-oncogene tyrosine kinaseproto-oncogene c-Merreceptor tyrosine kinase MerTK
Modification date20180523
UniProtAcc

Q12866

ContextPubMed: MERTK [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
MERTK

GO:0050766

positive regulation of phagocytosis

18395422


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Exon skipping events across known transcript of Ensembl for MERTK 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 MERTK

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 MERTK

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_3286442112656240:112656373:112686696:112686881:112702536:112702637112686696:112686881ENSG00000153208.12ENST00000439966.1
exon_skip_3286452112656240:112656373:112686696:112687117:112702536:112702637112686696:112687117ENSG00000153208.12ENST00000421804.2
exon_skip_3286482112704970:112705144:112722767:112722854:112725713:112725829112722767:112722854ENSG00000153208.12ENST00000409780.1,ENST00000439966.1,ENST00000295408.4,ENST00000421804.2
exon_skip_3286502112732865:112733049:112740418:112740570:112751827:112751981112740418:112740570ENSG00000153208.12ENST00000409780.1,ENST00000439966.1,ENST00000295408.4,ENST00000421804.2
exon_skip_3286522112740418:112740570:112751827:112751981:112754899:112755053112751827:112751981ENSG00000153208.12ENST00000409780.1,ENST00000439966.1,ENST00000295408.4,ENST00000421804.2
exon_skip_3286532112754946:112755053:112758777:112758863:112760668:112760764112758777:112758863ENSG00000153208.12ENST00000409780.1,ENST00000439966.1,ENST00000295408.4,ENST00000473065.1,ENST00000421804.2
exon_skip_3286542112765959:112766052:112767524:112767643:112776989:112777099112767524:112767643ENSG00000153208.12ENST00000409780.1,ENST00000439966.1,ENST00000295408.4,ENST00000421804.2
exon_skip_3286572112767524:112767643:112776989:112777099:112778998:112779158112776989:112777099ENSG00000153208.12ENST00000409780.1,ENST00000439966.1,ENST00000295408.4,ENST00000421804.2
exon_skip_3286632112777004:112777099:112778180:112778231:112778998:112779158112778180:112778231ENSG00000153208.12ENST00000449344.2

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

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Exon skipping events with PSIs in GTEx for MERTK

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_3286442112656240:112656373:112686696:112686881:112702536:112702637112686696:112686881ENSG00000153208.12ENST00000439966.1
exon_skip_3286452112656240:112656373:112686696:112687117:112702536:112702637112686696:112687117ENSG00000153208.12ENST00000421804.2
exon_skip_3286482112704970:112705144:112722767:112722854:112725713:112725829112722767:112722854ENSG00000153208.12ENST00000295408.4,ENST00000421804.2,ENST00000409780.1,ENST00000439966.1
exon_skip_3286502112732865:112733049:112740418:112740570:112751827:112751981112740418:112740570ENSG00000153208.12ENST00000295408.4,ENST00000421804.2,ENST00000409780.1,ENST00000439966.1
exon_skip_3286522112740418:112740570:112751827:112751981:112754899:112755053112751827:112751981ENSG00000153208.12ENST00000295408.4,ENST00000421804.2,ENST00000409780.1,ENST00000439966.1
exon_skip_3286532112754946:112755053:112758777:112758863:112760668:112760764112758777:112758863ENSG00000153208.12ENST00000295408.4,ENST00000421804.2,ENST00000409780.1,ENST00000439966.1,ENST00000473065.1
exon_skip_3286542112765959:112766052:112767524:112767643:112776989:112777099112767524:112767643ENSG00000153208.12ENST00000295408.4,ENST00000421804.2,ENST00000409780.1,ENST00000439966.1
exon_skip_3286572112767524:112767643:112776989:112777099:112778998:112779158112776989:112777099ENSG00000153208.12ENST00000295408.4,ENST00000421804.2,ENST00000409780.1,ENST00000439966.1
exon_skip_3286632112777004:112777099:112778180:112778231:112778998:112779158112778180:112778231ENSG00000153208.12ENST00000449344.2

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 MERTK

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
ENST00000421804112686696112687117Frame-shift
ENST00000295408112740418112740570Frame-shift
ENST00000421804112740418112740570Frame-shift
ENST00000295408112751827112751981Frame-shift
ENST00000421804112751827112751981Frame-shift
ENST00000295408112758777112758863Frame-shift
ENST00000421804112758777112758863Frame-shift
ENST00000295408112767524112767643Frame-shift
ENST00000421804112767524112767643Frame-shift
ENST00000295408112776989112777099Frame-shift
ENST00000421804112776989112777099Frame-shift
ENST00000295408112722767112722854In-frame
ENST00000421804112722767112722854In-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
ENST00000421804112686696112687117Frame-shift
ENST00000295408112740418112740570Frame-shift
ENST00000421804112740418112740570Frame-shift
ENST00000295408112751827112751981Frame-shift
ENST00000421804112751827112751981Frame-shift
ENST00000295408112758777112758863Frame-shift
ENST00000421804112758777112758863Frame-shift
ENST00000295408112767524112767643Frame-shift
ENST00000421804112767524112767643Frame-shift
ENST00000295408112776989112777099Frame-shift
ENST00000421804112776989112777099Frame-shift
ENST00000295408112722767112722854In-frame
ENST00000421804112722767112722854In-frame

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

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
ENST00000295408397199911272276711272285410151101252281
ENST000004218043617999112722767112722854886972252281

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
ENST00000295408397199911272276711272285410151101252281
ENST000004218043617999112722767112722854886972252281

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
Q1286625228121999ChainID=PRO_0000024443;Note=Tyrosine-protein kinase Mer
Q1286625228121999ChainID=PRO_0000024443;Note=Tyrosine-protein kinase Mer
Q12866252281218262Disulfide bondOntology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00114
Q12866252281218262Disulfide bondOntology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00114
Q12866252281197273DomainNote=Ig-like C2-type 2
Q12866252281197273DomainNote=Ig-like C2-type 2
Q12866252281274274Sequence conflictNote=K->Q;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q12866252281274274Sequence conflictNote=K->Q;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q1286625228121505Topological domainNote=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q1286625228121505Topological domainNote=Extracellular;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
Q1286625228121999ChainID=PRO_0000024443;Note=Tyrosine-protein kinase Mer
Q1286625228121999ChainID=PRO_0000024443;Note=Tyrosine-protein kinase Mer
Q12866252281218262Disulfide bondOntology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00114
Q12866252281218262Disulfide bondOntology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00114
Q12866252281197273DomainNote=Ig-like C2-type 2
Q12866252281197273DomainNote=Ig-like C2-type 2
Q12866252281274274Sequence conflictNote=K->Q;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q12866252281274274Sequence conflictNote=K->Q;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q1286625228121505Topological domainNote=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q1286625228121505Topological domainNote=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255


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SNVs in the skipped exons for MERTK

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.
MERTK_KIRP_exon_skip_328654_psi_boxplot.png
boxplot
MERTK_LIHC_exon_skip_328654_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_328644
112686697112686881112686743112686743Frame_Shift_DelG-p.P36fs
LIHCTCGA-DD-A3A0-01exon_skip_328645
112686697112687117112686743112686743Frame_Shift_DelG-p.P36fs
LIHCTCGA-DD-A1EG-01exon_skip_328652
112751828112751981112751847112751847Frame_Shift_DelT-p.V439fs
LIHCTCGA-DD-A3A0-01exon_skip_328652
112751828112751981112751928112751928Frame_Shift_DelG-p.R466fs
LIHCTCGA-DD-A1EG-01exon_skip_328654
112767525112767643112767573112767573Frame_Shift_DelT-p.I670fs
UCECTCGA-D1-A17R-01exon_skip_328654
112767525112767643112767604112767607Frame_Shift_DelTACT-p.H680fs
LIHCTCGA-DD-A39Y-01exon_skip_328654
112767525112767643112767607112767607Frame_Shift_DelT-p.T681fs
BRCATCGA-A2-A0SW-01exon_skip_328654
112767525112767643112767613112767631Frame_Shift_DelACTTTATTCCCGATTGGAG-p.L684fs
KIRCTCGA-B8-4153-01exon_skip_328654
112767525112767643112767558112767559Frame_Shift_Ins-Ap.P665fs
KIRCTCGA-B8-4153-01exon_skip_328654
112767525112767643112767558112767559Frame_Shift_Ins-Ap.Q665fs
SKCMTCGA-EB-A5SG-06exon_skip_328644
112686697112686881112686787112686787Nonsense_MutationTAp.L51*
SKCMTCGA-EB-A5SG-06exon_skip_328644
112686697112686881112686787112686787Nonsense_MutationTAp.L51X
SKCMTCGA-EB-A5SG-06exon_skip_328645
112686697112687117112686787112686787Nonsense_MutationTAp.L51*
SKCMTCGA-EB-A5SG-06exon_skip_328645
112686697112687117112686787112686787Nonsense_MutationTAp.L51X
LUADTCGA-97-7937-01exon_skip_328644
112686697112686881112686861112686861Nonsense_MutationGTp.G76*
LUADTCGA-97-7937-01exon_skip_328645
112686697112687117112686861112686861Nonsense_MutationGTp.G76*
KIRPTCGA-4A-A93W-01exon_skip_328654
112767525112767643112767644112767644Splice_SiteGC.

check button - Depth of coverage in the three exons composing exon skipping event
Depth of coverage in three exonsMutation description
MERTK_112765959_112766052_112767524_112767643_112776989_112777099_TCGA-4A-A93W-01Sample: TCGA-4A-A93W-01
Cancer type: KIRP
ESID: exon_skip_328654
Skipped exon start: 112767525
Skipped exon end: 112767643
Mutation start: 112767644
Mutation end: 112767644
Mutation type: Splice_Site
Reference seq: G
Mutation seq: C
AAchange: .
exon_skip_328654_KIRP_TCGA-4A-A93W-01.png
boxplot
exon_skip_83523_KIRP_TCGA-4A-A93W-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
MELJUSO_SKIN112767525112767643112767569112767575Frame_Shift_DelGTAATTT-p.VIL669fs
JHUEM1_ENDOMETRIUM112686697112686881112686712112686712Missense_MutationGTp.R26M
JHUEM1_ENDOMETRIUM112686697112687117112686712112686712Missense_MutationGTp.R26M
RKO_LARGE_INTESTINE112686697112687117112686894112686894Missense_MutationGAp.E87K
CALU1_LUNG112686697112687117112686913112686913Missense_MutationCTp.P93L
SNU410_PANCREAS112686697112687117112687057112687057Missense_MutationAGp.H141R
NCIH2110_LUNG112686697112687117112687101112687101Missense_MutationAGp.I156V
NCIH661_LUNG112722768112722854112722830112722830Missense_MutationAGp.K274E
KARPAS384_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE112751828112751981112751845112751845Missense_MutationACp.E438D
KMS12BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE112751828112751981112751936112751936Missense_MutationGTp.V469F
ECC12_STOMACH112751828112751981112751936112751936Missense_MutationGTp.V469F
H3118_UPPER_AERODIGESTIVE_TRACT112751828112751981112751936112751936Missense_MutationGTp.V469F
JMSU1_URINARY_TRACT112751828112751981112751972112751972Missense_MutationCTp.P481S
MM383_SKIN112758778112758863112758846112758846Missense_MutationGAp.R558Q
TE4_OESOPHAGUS112758778112758863112758855112758855Missense_MutationAGp.E561G
COLO792_SKIN112767525112767643112767552112767552Missense_MutationGAp.G663D
EFM192A_BREAST112767525112767643112767583112767583Missense_MutationCAp.F673L
SW48_LARGE_INTESTINE112767525112767643112767593112767593Missense_MutationGAp.G677R
HCC2998_LARGE_INTESTINE112767525112767643112767626112767626Missense_MutationTAp.L688M
SW684_SOFT_TISSUE112776990112777099112776996112776996Missense_MutationCTp.P696S
LB771HNC_UPPER_AERODIGESTIVE_TRACT112776990112777099112777032112777032Missense_MutationGTp.A708S
HEC251_ENDOMETRIUM112776990112777099112777061112777061Missense_MutationGTp.R717S
OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE112776990112777099112777075112777075Missense_MutationGAp.R722Q
HCT116_LARGE_INTESTINE112776990112777099112777074112777074Nonsense_MutationCTp.R722*

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

check button sQTL information located at the skipped exons.
Exon skip IDChromosomeThree exonsSkippped exonENSTCancer typeSNP idLocationDNA change (ref/var)P-value
exon_skip_3286522112740418:112740570:112751827:112751981:112754899:112755053112751827:112751981ENST00000409780.1,ENST00000439966.1,ENST00000295408.4,ENST00000421804.2LGGrs7604639chr2:112751928G/A3.55e-08
exon_skip_3286522112740418:112740570:112751827:112751981:112754899:112755053112751827:112751981ENST00000409780.1,ENST00000439966.1,ENST00000295408.4,ENST00000421804.2KIRCrs7604639chr2:112751928G/A3.18e-06
exon_skip_3286522112740418:112740570:112751827:112751981:112754899:112755053112751827:112751981ENST00000409780.1,ENST00000439966.1,ENST00000295408.4,ENST00000421804.2LUSCrs7604639chr2:112751928G/A3.06e-03
exon_skip_3286522112740418:112740570:112751827:112751981:112754899:112755053112751827:112751981ENST00000409780.1,ENST00000439966.1,ENST00000295408.4,ENST00000421804.2THCArs7604639chr2:112751928G/A2.55e-06
exon_skip_3286452112656240:112656373:112686696:112687117:112702536:112702637112686696:112687117ENST00000421804.2LGGrs13027171chr2:112686988G/A2.85e-13
exon_skip_3286452112656240:112656373:112686696:112687117:112702536:112702637112686696:112687117ENST00000421804.2KIRCrs13027171chr2:112686988G/A2.71e-04
exon_skip_3286452112656240:112656373:112686696:112687117:112702536:112702637112686696:112687117ENST00000421804.2LUADrs13027171chr2:112686988G/A1.46e-03
exon_skip_3286452112656240:112656373:112686696:112687117:112702536:112702637112686696:112687117ENST00000421804.2LUSCrs13027171chr2:112686988G/A1.95e-12
exon_skip_3286452112656240:112656373:112686696:112687117:112702536:112702637112686696:112687117ENST00000421804.2OVrs13027171chr2:112686988G/A2.79e-06
exon_skip_3286452112656240:112656373:112686696:112687117:112702536:112702637112686696:112687117ENST00000421804.2THCArs13027171chr2:112686988G/A3.47e-08

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


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


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RelatedDrugs for MERTK

check button Approved drugs targeting this gene.
(DrugBank Version 5.1.0 2018-04-02)
GeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
Q12866DB12010FostamatinibTyrosine-protein kinase Mersmall moleculeapproved|investigational

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RelatedDiseases for MERTK

check button Diseases associated with this gene.
(DisGeNet 4.0)
GeneDisease IDDisease name# pubmedsSource
MERTKC0017661IGA Glomerulonephritis1CTD_human
MERTKC0034065Pulmonary Embolism1CTD_human
MERTKC0035334Retinitis Pigmentosa1CTD_human;HPO;ORPHANET
MERTKC0040038Thromboembolism1CTD_human
MERTKC0040053Thrombosis1CTD_human
MERTKC3151228RETINITIS PIGMENTOSA 38 (disorder)1UNIPROT