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A 8 ACC BLCA BRCA CESC CHOL COAD DLBC ESCA GBM HNSC KICH KIRC KIRP LAML LGG LIHC LUAD LUSC MESO OV PAAD PCPG PRAD READ SARC SKCM STAD TGCT THCA THYM UCEC UCS UVM
7
6
5
TPM 4 3
2
1
0
T ( n=77 ) N ( n=128 ) T ( n=404 ) N ( n=128 ) T ( n=1 085 ) N ( n=291 ) T ( n=306 ) N ( n=13 ) T ( n=36 ) N ( n=9 ) T ( n=275 ) N ( n=343 ) T ( n=47 ) N ( n=337 ) T ( n=182 ) N ( n=286 ) T ( n=163 ) N ( n=207 ) T ( n=510 ) N ( n=44 ) T ( n=66 ) N ( n=53 ) T ( n=523 ) N ( n=100 ) T ( n=286 ) N ( n=60 ) T ( n=173 ) N ( n=70 ) T ( n=510 ) N ( n=207 ) T ( n=363 ) N ( n=160 ) T ( n=483 ) N ( n=347 ) T ( n=486 ) N ( n=338 ) T ( n=87 ) T ( n=426 ) N ( n=88 ) T ( n=179 ) N ( n=171
B 8 ACC BLCA BRCA CESC CHOL COAD DLBC ESCA GBM HNSC KICH KIRC KIRP LAML LGG LIHC LUAD LUSC MESO OV PAAD PCPG PRAD READ SARC SKCM STAD TGCT THCA THYM UCEC UCS UVM
7
6
5
TPM 4 3
2
1
0
T ( n=77 ) N ( n=128 ) T ( n=404 ) N ( n=128 ) T ( n=1 085 ) N ( n=291 ) T ( n=306 ) N ( n=13 ) T ( n=36 ) N ( n=9 ) T ( n=275 ) N ( n=343 ) T ( n=47 ) N ( n=337 ) T ( n=182 ) N ( n=286 ) T ( n=163 ) N ( n=207 ) T ( n=510 ) N ( n=44 ) T ( n=66 ) N ( n=53 ) T ( n=523 ) N ( n=100 ) T ( n=286 ) N ( n=60 ) T ( n=173 ) N ( n=70 ) T ( n=510 ) N ( n=207 ) T ( n=363 ) N ( n=160 ) T ( n=483 ) N ( n=347 ) T ( n=486 ) N ( n=338 ) T ( n=87 ) T ( n=426 ) N ( n=88 ) T ( n=179 ) N ( n=171
C
8 ACC BLCA BRCA CESC CHOL COAD DLBC ESCA GBM HNSC KICH KIRC KIRP LAML LGG LIHC LUAD LUSC MESO OV PAAD PCPG PRAD READ SARC SKCM STAD TGCT THCA THYM UCEC UCS UVM
7
6
5
TPM 4 3
2
1
0
T ( n=77 ) N ( n=128 ) T ( n=404 ) N ( n=128 ) T ( n=1 085 ) N ( n=291 ) T ( n=306 ) N ( n=13 ) T ( n=36 ) N ( n=9 ) T ( n=275 ) N ( n=343 ) T ( n=47 ) N ( n=337 ) T ( n=182 ) N ( n=286 ) T ( n=163 ) N ( n=207 ) T ( n=510 ) N ( n=44 ) T ( n=66 ) N ( n=53 ) T ( n=523 ) N ( n=100 ) T ( n=286 ) N ( n=60 ) T ( n=173 ) N ( n=70 ) T ( n=510 ) N ( n=207 ) T ( n=363 ) N ( n=160 ) T ( n=483 ) N ( n=347 ) T ( n=486 ) N ( n=338 ) T ( n=87 ) T ( n=426 ) N ( n=88 ) T ( n=179 ) N ( n=171
D
ACC BLCA BRCA CESC CHOL COAD DLBC ESCA GBM HNSC KICH KIRC KIRP LAML LGG LIHC LUAD LUSC MESO OV PAAD PCPG PRAD READ SARC SKCM STAD TGCT THCA THYM UCEC UCS UVM
8
7
6
5
TPM 4 3
2
1
0
T ( n=77 ) N ( n=128 ) T ( n=404 ) N ( n=128 ) T ( n=1 085 ) N ( n=291 ) T ( n=306 ) N ( n=13 ) T ( n=36 ) N ( n=9 ) T ( n=275 ) N ( n=343 ) T ( n=47 ) N ( n=337 ) T ( n=182 ) N ( n=286 ) T ( n=163 ) N ( n=207 ) T ( n=510 ) N ( n=44 ) T ( n=66 ) N ( n=53 ) T ( n=523 ) N ( n=100 ) T ( n=286 ) N ( n=60 ) T ( n=173 ) N ( n=70 ) T ( n=510 ) N ( n=207 ) T ( n=363 ) N ( n=160 ) T ( n=483 ) N ( n=347 ) T ( n=486 ) N ( n=338 ) T ( n=87 ) T ( n=426 ) N ( n=88 ) T ( n=179 ) N ( n=171
NSUN5(A)、NSUN6(B)、TET2(C)和DNMT3B(D)在泛癌和正常组织中的表达值。T:肿瘤组;N:正常组;TPM:每百万条reads的转录本。
图4 4个模型基因在泛癌中的表达及其在肾透明细胞癌中的遗传变异
Figure 4 Pan⁃cancer expression of four model genes and their genetic variation in renal clear cell carcinom
A B
r = 0.36 800 r = 0.13
1 000 P < 0.001 700 P < 0.001
mRNA表达量 ( RNASeqV2 RSEM) 1 500 mRNA表达量 RSEM) 600
500
400
1 000
NSUN5 500 NSUN6 ( RNASeqV2 300
200
100
0 0
-0.5 0 0.5 1.0 1.5 -1.0 -0.8 -0.6 -0.4 -0.2 0 0.2 0.4 0.6 0.8 1.0 1.2
NSUN5相对线性拷贝数值 NSUN6相对线性拷贝数值
C D
1 800
r = 0.30 r = 0.34
1 600 P < 0.001 1 000 P < 0.001
TET2 mRNA表达量 ( RNASeq V2 RSEM) 1 200 DNMT3B mRNA表达量 ( RNASeq V2 RSEM) 600
1 400
800
1 000
800
400
400
200
200
0
0
-0.8 -0.6 -0.4 -0.2 0 0.2 0.4 0.6 0.8 -0.2 0 0.2 0.4 0.6 0.8 1.0 1.2 1.4
TET2相对线性拷贝数值 DNMT3B相对线性拷贝数值
图5 NSUN5(A)、NSUN6(B)、TET2(C)和DNMT3B(D)与拷贝数变异之间的关系
Figure 5 Association between NSUN5(A),NSUN6(B),TET2(C)and DNMT3B(D)and copy number variation