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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 MUC6

check button Gene summary
Gene informationGene symbol

MUC6

Gene ID

4588

Gene namemucin 6, oligomeric mucus/gel-forming
SynonymsMUC-6
Cytomap

11p15.5

Type of geneprotein-coding
Descriptionmucin-6gastric mucin-6
Modification date20180329
UniProtAcc

Q6W4X9

ContextPubMed: MUC6 [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 MUC6 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 MUC6

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 MUC6

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_67703111013472:1013633:1013795:1013898:1015761:10158831013795:1013898ENSG00000184956.11ENST00000532016.1
exon_skip_67706111013472:1013633:1013898:1014001:1015761:10158831013898:1014001ENSG00000184956.11ENST00000421673.2
exon_skip_67722111013898:1014001:1015761:1018770:1019274:10194961015761:1018770ENSG00000184956.11ENST00000421673.2
exon_skip_67734111018035:1018770:1019274:1019496:1020089:10202571019274:1019496ENSG00000184956.11ENST00000421673.2
exon_skip_67735111029494:1029615:1030212:1030335:1030572:10307801030212:1030335ENSG00000184956.11ENST00000421673.2
exon_skip_67736111030212:1030335:1030572:1030780:1030946:10310561030572:1030780ENSG00000184956.11ENST00000421673.2
exon_skip_67737111030946:1031056:1031168:1031259:1031606:10317331031168:1031259ENSG00000184956.11ENST00000421673.2

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

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Exon skipping events with PSIs in GTEx for MUC6

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_67703111013472:1013633:1013795:1013898:1015761:10158831013795:1013898ENSG00000184956.11ENST00000532016.1
exon_skip_67706111013472:1013633:1013898:1014001:1015761:10158831013898:1014001ENSG00000184956.11ENST00000421673.2
exon_skip_67722111013898:1014001:1015761:1018770:1019274:10194961015761:1018770ENSG00000184956.11ENST00000421673.2
exon_skip_67734111018035:1018770:1019274:1019496:1020089:10202571019274:1019496ENSG00000184956.11ENST00000421673.2
exon_skip_67736111030212:1030335:1030572:1030780:1030946:10310561030572:1030780ENSG00000184956.11ENST00000421673.2
exon_skip_67737111030946:1031056:1031168:1031259:1031606:10317331031168:1031259ENSG00000184956.11ENST00000421673.2

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 MUC6

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

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

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Infer the effects of exon skipping event on protein functional features for MUC6

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

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

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


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


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SNVs in the skipped exons for MUC6

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.

check button - Non-synonymous mutations located in the skipped exons in TCGA.
Cancer typeSampleESIDSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
BRCATCGA-BH-A0H3-01exon_skip_67722
1015762101877010158771015880Frame_Shift_DelAGGG-p.H2307fs
LIHCTCGA-G3-A3CJ-01exon_skip_67722
1015762101877010159131015913Frame_Shift_DelG-p.P2296fs
STADTCGA-BR-4361-01exon_skip_67722
1015762101877010159271015927Frame_Shift_DelC-p.V2292fs
STADTCGA-VQ-A8DZ-01exon_skip_67722
1015762101877010159421015943Frame_Shift_DelAC-p.2287_2287del
STADTCGA-VQ-A8DZ-01exon_skip_67722
1015762101877010159421015943Frame_Shift_DelAC-p.VS2286fs
LIHCTCGA-DD-A39Y-01exon_skip_67722
1015762101877010161611016161Frame_Shift_DelG-p.H2214fs
ESCATCGA-ZR-A9CJ-01exon_skip_67722
1015762101877010162211016224Frame_Shift_DelCAGA-p.2193_2194del
ESCATCGA-ZR-A9CJ-01exon_skip_67722
1015762101877010162211016224Frame_Shift_DelCAGA-p.S2193fs
ESCATCGA-ZR-A9CJ-01exon_skip_67722
1015762101877010162211016224Frame_Shift_DelCAGA-p.SA2193fs
ESCATCGA-2H-A9GQ-01exon_skip_67722
1015762101877010163731016376Frame_Shift_DelGAAG-p.S2142fs
ESCATCGA-2H-A9GQ-01exon_skip_67722
1015762101877010163731016376Frame_Shift_DelGAAG-p.SS2142fs
STADTCGA-VQ-A94T-01exon_skip_67722
1015762101877010163741016377Frame_Shift_DelAAGA-p.2142_2143del
STADTCGA-VQ-A94T-01exon_skip_67722
1015762101877010163741016377Frame_Shift_DelAAGA-p.SS2142fs
UCECTCGA-D1-A102-01exon_skip_67722
1015762101877010164831016483Frame_Shift_DelA-p.P2106fs
STADTCGA-BR-8081-01exon_skip_67722
1015762101877010165401016543Frame_Shift_DelGAAG-p.2087_2088del
STADTCGA-BR-8081-01exon_skip_67722
1015762101877010165401016543Frame_Shift_DelGAAG-p.F2087fs
ESCATCGA-JY-A6FH-01exon_skip_67722
1015762101877010165491016561Frame_Shift_DelAGAGGCTGTAGCT-p.2081_2085del
ESCATCGA-JY-A6FH-01exon_skip_67722
1015762101877010165491016561Frame_Shift_DelAGAGGCTGTAGCT-p.TATAS2080fs
STADTCGA-VQ-A8DV-01exon_skip_67722
1015762101877010166931016693Frame_Shift_DelG-p.A2036fs
STADTCGA-VQ-A8DV-01exon_skip_67722
1015762101877010166931016693Frame_Shift_DelG-p.S2037fs
STADTCGA-D7-6519-01exon_skip_67722
1015762101877010167321016733Frame_Shift_DelTG-p.2023_2024del
STADTCGA-CD-A4MH-01exon_skip_67722
1015762101877010167501016760Frame_Shift_DelCACCAAGGAGG-p.T2014fs
STADTCGA-RD-A7BT-01exon_skip_67722
1015762101877010167561016756Frame_Shift_DelG-p.L2016fs
STADTCGA-FP-8211-01exon_skip_67722
1015762101877010169731016974Frame_Shift_DelGT-p.1943_1943del
STADTCGA-FP-8211-01exon_skip_67722
1015762101877010169731016974Frame_Shift_DelGT-p.T1943fs
STADTCGA-BR-A4PE-01exon_skip_67722
1015762101877010170611017061Frame_Shift_DelT-p.T1914fs
STADTCGA-HU-A4GX-01exon_skip_67722
1015762101877010173231017324Frame_Shift_DelAT-p.1826_1827del
UCECTCGA-A5-A0GW-01exon_skip_67722
1015762101877010176201017620Frame_Shift_DelT-p.T1727fs
UCECTCGA-A5-A0GH-01exon_skip_67722
1015762101877010177211017721Frame_Shift_DelG-p.L1694fs
STADTCGA-D7-6526-01exon_skip_67722
1015762101877010179541017961Frame_Shift_DelACGTGAGT-p.T1614fs
STADTCGA-IN-7806-01exon_skip_67722
1015762101877010180311018031Frame_Shift_DelG-p.M1591X
STADTCGA-CD-8536-01exon_skip_67722
1015762101877010186091018612Frame_Shift_DelTGTA-p.1397_1398del
STADTCGA-CD-8536-01exon_skip_67722
1015762101877010186091018612Frame_Shift_DelTGTA-p.Y1397fs
STADTCGA-RD-A7BW-01exon_skip_67722
1015762101877010187361018742Frame_Shift_DelCGTTGTT-p.1354_1356del
STADTCGA-RD-A7BW-01exon_skip_67722
1015762101877010187361018742Frame_Shift_DelCGTTGTT-p.GTT1353fs
STADTCGA-HU-A4G2-01exon_skip_67734
1019275101949610193291019329Frame_Shift_DelG-p.R1326fs
BRCATCGA-BH-A0RX-01exon_skip_67734
1019275101949610193671019368Frame_Shift_DelGC-p.A1313fs
THCATCGA-KS-A4I5-01exon_skip_67736
1030573103078010305831030583Frame_Shift_DelG-p.P294fs
LIHCTCGA-DD-A1EG-01exon_skip_67736
1030573103078010306781030678Frame_Shift_DelG-p.Q263fs
STADTCGA-BR-6452-01exon_skip_67722
1015762101877010160001016001Frame_Shift_Ins-TGAGAp.Q2267fs
STADTCGA-BR-6452-01exon_skip_67722
1015762101877010160011016002Frame_Shift_Ins-TGAGAp.Q2267fs
UCECTCGA-A5-A0GW-01exon_skip_67722
1015762101877010176171017618Frame_Shift_Ins-Gp.V1728fs
STADTCGA-R5-A7ZE-01exon_skip_67722
1015762101877010182021018203Frame_Shift_Ins-Tp.H1533fs
STADTCGA-R5-A7ZE-01exon_skip_67722
1015762101877010182021018203Frame_Shift_Ins-Tp.P1533fs
KICHTCGA-KN-8429-01exon_skip_67722
1015762101877010185501018551Frame_Shift_Ins-Gp.P1417fs
TGCTTCGA-2G-AAFV-01exon_skip_67722
1015762101877010185611018562Frame_Shift_Ins-Cp.S1414fs
ESCATCGA-L5-A4OR-01exon_skip_67722
1015762101877010187311018732Frame_Shift_Ins-TGGCCp.P1357fs
ESCATCGA-L5-A4OR-01exon_skip_67722
1015762101877010187311018732Frame_Shift_Ins-TGGCCp.T1357fs
KIRPTCGA-GL-A4EM-01exon_skip_67734
1019275101949610194611019462Frame_Shift_Ins-Tp.Q1281fs
HNSCTCGA-CV-7427-01exon_skip_67722
1015762101877010164251016425Nonsense_MutationGAp.Q2126*
LUSCTCGA-34-2600-01exon_skip_67722
1015762101877010171891017189Nonsense_MutationGCp.S1871*
HNSCTCGA-CR-7402-01exon_skip_67722
1015762101877010177141017714Nonsense_MutationGTp.S1696*
BRCATCGA-C8-A12X-01exon_skip_67722
1015762101877010183681018368Nonsense_MutationGTp.S1478*
LIHCTCGA-CC-A7IH-01exon_skip_67737
1031169103125910312391031239Nonsense_MutationGCp.Y168*
LIHCTCGA-CC-A7IH-01exon_skip_67737
1031169103125910312391031239Nonsense_MutationGCp.Y168X

check button - Depth of coverage in the three exons composing exon skipping event
Depth of coverage in three exonsMutation description

check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
FLO1_OESOPHAGUS1015762101877010180711018072Frame_Shift_DelGA-p.S1577fs
NCIH1703_LUNG1013899101400110139751013976Frame_Shift_Ins-Tp.E2356fs
CL34_LARGE_INTESTINE1015762101877010184781018479Frame_Shift_Ins-GTCTGAGGGTp.-1441fs
NCIH1703_LUNG1013899101400110139061013906Missense_MutationCTp.A2379T
ISHIKAWAHERAKLIO02ER_ENDOMETRIUM1015762101877010158431015843Missense_MutationTCp.T2320A
P30OHK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE1015762101877010158521015852Missense_MutationGAp.R2317W
CTB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE1015762101877010158791015879Missense_MutationGAp.P2308S
MELHO_SKIN1015762101877010158961015896Missense_MutationTAp.N2302I
SNU324_PANCREAS1015762101877010159061015906Missense_MutationGTp.P2299T
PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE1015762101877010159321015932Missense_MutationGAp.S2290L
KYAE1_OESOPHAGUS1015762101877010160051016005Missense_MutationAGp.S2266P
HEC265_ENDOMETRIUM1015762101877010160201016020Missense_MutationCTp.A2261T
WSUNHL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE1015762101877010160201016020Missense_MutationCTp.A2261T
HLFA_FIBROBLAST1015762101877010160761016076Missense_MutationGAp.A2242V
NCIH2004RT_SOFT_TISSUE1015762101877010161041016104Missense_MutationCAp.V2233L
C8166_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE1015762101877010161411016141Missense_MutationGTp.F2220L
NCIH23_LUNG1015762101877010161751016175Missense_MutationCTp.R2209K
IHH4_THYROID1015762101877010162261016226Missense_MutationATp.V2192E
JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE1015762101877010162321016232Missense_MutationGAp.A2190V
BFTC909_KIDNEY1015762101877010162991016299Missense_MutationCTp.A2168T
CW2_LARGE_INTESTINE1015762101877010163051016305Missense_MutationCTp.V2166M
HS600T_FIBROBLAST1015762101877010163731016373Missense_MutationGAp.S2143F
HEC59_ENDOMETRIUM1015762101877010163831016383Missense_MutationTCp.T2140A
LNCAPCLONEFGC_PROSTATE1015762101877010164911016491Missense_MutationAGp.S2104P
ROS50_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE1015762101877010165261016526Missense_MutationGCp.S2092C
NCIH446_LUNG1015762101877010165901016590Missense_MutationTAp.T2071S
MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE1015762101877010165951016595Missense_MutationCTp.S2069N
HO1N1_UPPER_AERODIGESTIVE_TRACT1015762101877010165981016598Missense_MutationGCp.T2068S
PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE1015762101877010166651016666Missense_MutationCGTAp.V2046I
EMCBAC2_LUNG1015762101877010169471016947Missense_MutationCAp.A1952S
OV56_OVARY1015762101877010170001017000Missense_MutationGTp.S1934Y
NCIH1755_LUNG1015762101877010170991017099Missense_MutationCGp.G1901A
SBC3_LUNG1015762101877010171001017100Missense_MutationCTp.G1901R
DL40_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE1015762101877010171031017103Missense_MutationTCp.S1900G
SNU81_LARGE_INTESTINE1015762101877010171151017115Missense_MutationTCp.T1896A
HSC2_UPPER_AERODIGESTIVE_TRACT1015762101877010171411017141Missense_MutationCTp.G1887E
CHLA258_BONE1015762101877010171591017159Missense_MutationGCp.T1881S
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE1015762101877010171631017163Missense_MutationGAp.P1880S
NCIH2373_PLEURA1015762101877010171741017174Missense_MutationGTp.T1876N
C125PM_LARGE_INTESTINE1015762101877010172391017240Missense_MutationCGTAp.T1854I
CASKI_CERVIX1015762101877010172391017240Missense_MutationCGTAp.T1854I
ESO51_OESOPHAGUS1015762101877010172391017240Missense_MutationCGTAp.T1854I
KARPAS384_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE1015762101877010172391017240Missense_MutationCGTAp.T1854I
MCC13_SKIN1015762101877010172391017240Missense_MutationCGTAp.T1854I
MCC142_SKIN1015762101877010172391017240Missense_MutationCGTAp.T1854I
MERO48A_LUNG1015762101877010172391017240Missense_MutationCGTAp.T1854I
MERO95_LUNG1015762101877010172391017240Missense_MutationCGTAp.T1854I
NCIH1915_LUNG1015762101877010172391017240Missense_MutationCGTAp.T1854I
NCIH526_LUNG1015762101877010172391017240Missense_MutationCGTAp.T1854I
NKL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE1015762101877010172391017240Missense_MutationCGTAp.T1854I
OACM51_OESOPHAGUS1015762101877010172391017240Missense_MutationCGTAp.T1854I
PACADD119_PANCREAS1015762101877010172391017240Missense_MutationCGTAp.T1854I
PACADD161_PANCREAS1015762101877010172391017240Missense_MutationCGTAp.T1854I
SW756_CERVIX1015762101877010172391017240Missense_MutationCGTAp.T1854I
UMUC14_URINARY_TRACT1015762101877010172391017240Missense_MutationCGTAp.T1854I
VMRCLCD_LUNG1015762101877010172671017267Missense_MutationGAp.T1845I
HSC39_STOMACH1015762101877010173031017303Missense_MutationTCp.H1833R
CW2_LARGE_INTESTINE1015762101877010174411017441Missense_MutationGAp.S1787L
ES6_BONE1015762101877010174901017490Missense_MutationGAp.P1771S
HS746T_STOMACH1015762101877010175611017561Missense_MutationGTp.T1747K
TGBC11TKB_STOMACH1015762101877010175771017577Missense_MutationTCp.T1742A
UO31_KIDNEY1015762101877010177711017771Missense_MutationCAp.G1677V
OCILY12_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE1015762101877010178011017801Missense_MutationGTp.T1667K
NCCSTCK140_STOMACH1015762101877010178471017847Missense_MutationTCp.T1652A
KGN_OVARY1015762101877010178471017847Missense_MutationTCp.T1652A
NCIH647_LUNG1015762101877010178591017859Missense_MutationTCp.M1648V
KYSE140_OESOPHAGUS1015762101877010178841017884Missense_MutationCGp.M1639I
HS834T_FIBROBLAST1015762101877010180361018036Missense_MutationCTp.G1589S
C33A_CERVIX1015762101877010180981018098Missense_MutationCTp.R1568K
HUNS1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE1015762101877010181981018198Missense_MutationGAp.P1535S
OPM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE1015762101877010184611018461Missense_MutationAGp.V1447A
KMRC1_KIDNEY1015762101877010184611018461Missense_MutationAGp.V1447A
OVMIU_OVARY1015762101877010184611018461Missense_MutationAGp.V1447A
NB5_AUTONOMIC_GANGLIA1015762101877010184741018474Missense_MutationGAp.L1443F
SNU668_STOMACH1015762101877010184921018492Missense_MutationAGp.S1437P
HCT15_LARGE_INTESTINE1015762101877010186061018606Missense_MutationTCp.T1399A
SNU1040_LARGE_INTESTINE1015762101877010186061018606Missense_MutationTGp.T1399P
DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE1015762101877010186601018660Missense_MutationTCp.T1381A
EFO27_OVARY1015762101877010187641018764Missense_MutationGAp.S1346L
MEWO_SKIN1019275101949610193281019328Missense_MutationCTp.R1326Q
DU145_PROSTATE1019275101949610193711019371Missense_MutationTGp.T1312P
FADU_UPPER_AERODIGESTIVE_TRACT1019275101949610193711019371Missense_MutationTGp.T1312P
OCIM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE1019275101949610194781019478Missense_MutationGAp.T1276M
RKO_LARGE_INTESTINE1030573103078010305991030599Missense_MutationCTp.R289H
GP5D_LARGE_INTESTINE1030573103078010306351030635Missense_MutationTCp.Y277C
IM95_STOMACH1030573103078010307051030705Missense_MutationAGp.C254R
CAS1_CENTRAL_NERVOUS_SYSTEM1030573103078010307761030776Missense_MutationCTp.R230Q
C125PM_LARGE_INTESTINE1031169103125910311871031187Missense_MutationCTp.E186K
RKO_LARGE_INTESTINE1031169103125910311901031190Missense_MutationTCp.N185D
C33A_CERVIX1015762101877010159661015966Nonsense_MutationGAp.R2279*
SW756_CERVIX1015762101877010165711016571Nonsense_MutationGTp.S2077*
NCIH747_LARGE_INTESTINE1015762101877010165711016571Nonsense_MutationGTp.S2077*
TC138_BONE1015762101877010184911018491Nonsense_MutationGCp.S1437*
PLCPRF5_LIVER1031169103125910312241031224Nonsense_MutationGTp.C173*

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for MUC6

check button sQTL information located at the skipped exons.
Exon skip IDChromosomeThree exonsSkippped exonENSTCancer typeSNP idLocationDNA change (ref/var)P-value

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MUC6


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MUC6


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RelatedDrugs for MUC6

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 MUC6

check button Diseases associated with this gene.
(DisGeNet 4.0)
GeneDisease IDDisease name# pubmedsSource
MUC6C0038356Stomach Neoplasms1CTD_human