此Panel包含下列528个基因的全部编码区,30个常见实体瘤的融合基因热点内含子区域,99个微卫星不稳定检测位点,覆盖基因组约1.37Mb区域,支持包括碱基替换、插入、缺失检测分析。
528个基因:含全部外显子区域
ABL1 | CBL | DUSP4 | FH | IFNGR1 | MDM4 | PBRM1 | RAD52 | SPOP |
ABRAXAS1 | CCND1 | E2F3 | FLCN | IGF1 | MED12 | PDCD1 | RAD54L | SPRED1 |
ACVR1 | CCND2 | EED | FLT1 | IGF1R | MEF2B | PDCD1LG2 | RAF1 | SRC |
ACVR1B | CCND3 | EGFL7 | FLT3 | IGF2 | MEN1 | PDGFRA | RARA | SRSF2 |
AGO2 | CCNE1 | EGFR | FLT4 | IKBKE | MERTK | PDGFRB | RASA1 | STAG2 |
AKT1 | CCNQ | EIF1AX | FOXA1 | IKZF1 | MET | PDK1 | RB1 | STAT3 |
AKT2 | CD22 | EIF4A2 | FOXL2 | IL10 | MGA | PDPK1 | RBM10 | STAT5A |
AKT3 | CD274 | EIF4E | FOXO1 | IL7R | MITF | PGR | RECQL | STAT5B |
ALK | CD276 | ELF3 | FOXP1 | INHA | MKNK1 | PHOX2B | RECQL4 | STK11 |
ALOX12B | CD70 | ELOC | FUBP1 | INHBA | MLH1 | PIK3C2B | REL | STK19 |
AMER1 | CD79A | EMSY | FYN | INPP4A | MPL | PIK3C2G | RET | STK40 |
ANKRD11 | CD79B | EP300 | GABRA6 | INPP4B | MRE11 | PIK3C3 | RHEB | SUFU |
APC | CDC42 | EPAS1 | GATA1 | INPPL1 | MSH2 | PIK3CA | RHOA | SUZ12 |
AR | CDC73 | EPCAM | GATA2 | INSR | MSH3 | PIK3CB | RICTOR | SYK |
ARAF | CDH1 | EPHA3 | GATA3 | IRF2 | MSH6 | PIK3CD | RIT1 | TAP1 |
ARFRP1 | CDK12 | EPHA5 | GATA4 | IRF4 | MST1R | PIK3CG | RNF43 | TAP2 |
ARID1A | CDK4 | EPHA7 | GATA6 | IRS1 | MTAP | PIK3R1 | ROS1 | TBX3 |
ARID1B | CDK6 | EPHB1 | GID4 | IRS2 | MTOR | PIK3R2 | RPS6KA4 | TCF3 |
ARID2 | CDK8 | EPHB4 | GLI1 | JAK1 | MUTYH | PIK3R3 | RPS6KB2 | TCF7L2 |
ARID5B | CDKN1A | ERBB2 | GNA11 | JAK2 | MYC | PIM1 | RPTOR | TEK |
ASXL1 | CDKN1B | ERBB3 | GNA13 | JAK3 | MYCL | PLCG2 | RRAGC | TERT |
ASXL2 | CDKN2A | ERBB4 | GNAQ | JUN | MYCN | PLK2 | RRAS | TET1 |
ATM | CDKN2B | ERCC1 | GNAS | KDM5A | MYD88 | PMAIP1 | RRAS2 | TET2 |
ATR | CDKN2C | ERCC2 | GPS2 | KDM5C | MYOD1 | PMS1 | RTEL1 | TGFBR1 |
ATRX | CEBPA | ERCC3 | GREM1 | KDM6A | NBN | PMS2 | RUNX1 | TGFBR2 |
AURKA | CENPA | ERCC4 | GRIN2A | KDR | NCOA3 | PNRC1 | RXRA | TIPARP |
AURKB | CHD4 | ERCC5 | GRM3 | KEAP1 | NCOR1 | POLD1 | RYBP | TMEM127 |
AXIN1 | CHEK1 | ERF | GSK3B | KEL | NEGR1 | POLE | SDHA | TMPRSS2 |
AXIN2 | CHEK2 | ERG | H3F3A | KIT | NF1 | PPARG | SDHAF2 | TNFAIP3 |
AXL | CIC | ERRFI1 | H3F3B | KLF4 | NF2 | PPM1D | SDHB | TNFRSF14 |
B2M | COP1 | ESR1 | H3F3C | KLHL6 | NFE2L2 | PPP2R1A | SDHC | TOP1 |
BABAM1 | CREBBP | ETV1 | HDAC1 | KMT2A | NFKBIA | PPP2R2A | SDHD | TP53 |
BAP1 | CRKL | ETV6 | HGF | KMT2B | NKX2-1 | PPP4R2 | SESN1 | TP53BP1 |
BARD1 | CRLF2 | EZH1 | HIST1H1C | KMT2C | NKX3-1 | PPP6C | SESN2 | TP63 |
BBC3 | CSDE1 | EZH2 | HIST1H2BD | KMT2D | NOTCH1 | PRDM1 | SESN3 | TRAF2 |
BCL10 | CSF1R | EZR | HIST1H3A | KMT5A | NOTCH2 | PRDM14 | SETD2 | TRAF7 |
BCL2 | CSF3R | FAM46C | HIST1H3B | KNSTRN | NOTCH3 | PREX2 | SF3B1 | TSC1 |
BCL2L1 | CTCF | FANCA | HIST1H3C | KRAS | NOTCH4 | PRKAR1A | SGK1 | TSC2 |
BCL2L11 | CTLA4 | FANCC | HIST1H3D | LATS1 | NPM1 | PRKCI | SH2B3 | TSHR |
BCL2L2 | CTNNA1 | FANCD2 | HIST1H3E | LATS2 | NRAS | PRKD1 | SH2D1A | TYRO3 |
BCL6 | CTNNB1 | FANCE | HIST1H3F | LMO1 | NSD1 | PRKN | SHOC2 | U2AF1 |
BCOR | CUL3 | FANCF | HIST1H3G | LRP1B | NSD2 | PTCH1 | SHQ1 | UPF1 |
BCORL1 | CUL4A | FANCG | HIST1H3H | LTK | NSD3 | PTEN | SLX4 | VEGFA |
BIRC3 | CXCR4 | FANCL | HIST1H3I | LYN | NT5C2 | PTP4A1 | SMAD2 | VHL |
BLM | CYLD | FAS | HIST1H3J | MAF | NTHL1 | PTPN11 | SMAD3 | VTCN1 |
BMPR1A | CYP17A1 | FAT1 | HIST2H3C | MALT1 | NTRK1 | PTPRD | SMAD4 | WISP3 |
BRAF | CYSLTR2 | FBXW7 | HIST2H3D | MAP2K1 | NTRK2 | PTPRO | SMARCA4 | WT1 |
BRCA1 | DAXX | FGF10 | HIST3H3 | MAP2K2 | NTRK3 | PTPRS | SMARCB1 | WWTR1 |
BRCA2 | DCUN1D1 | FGF12 | HLA-A | MAP2K4 | NUF2 | PTPRT | SMARCD1 | XIAP |
BRD4 | DDR1 | FGF14 | HLA-B | MAP3K1 | NUP93 | QKI | SMO | XPO1 |
BRIP1 | DDR2 | FGF19 | HNF1A | MAP3K13 | P2RY8 | RAB35 | SMYD3 | XRCC2 |
BTG1 | DICER1 | FGF23 | HOXB13 | MAP3K14 | PAK1 | RAC1 | SNCAIP | YAP1 |
BTG2 | DIS3 | FGF3 | HRAS | MAPK1 | PAK3 | RAC2 | SOCS1 | YES1 |
BTK | DNAJB1 | FGF4 | HSD3B1 | MAPK3 | PAK5 | RAD21 | SOS1 | ZFHX3 |
CALR | DNMT1 | FGF6 | HSP90AA1 | MAPKAP1 | PALB2 | RAD50 | SOX10 | ZNF217 |
CARD11 | DNMT3A | FGFR1 | ICOSLG | MAX | PARP1 | RAD51 | SOX17 | ZNF703 |
CARM1 | DNMT3B | FGFR2 | ID3 | MCL1 | PARP2 | RAD51B | SOX2 | |
CASP8 | DOT1L | FGFR3 | IDH1 | MDC1 | PARP3 | RAD51C | SOX9 | |
CBFB | DROSHA | FGFR4 | IDH2 | MDM2 | PAX5 | RAD51D | SPEN |
30个融合基因区域:部分内含子区域
基因 | 区域 | 基因 | 区域 |
ALK | intron:17;18;19;20;21 | KMT2A | intron:6;7;8;9;10;11 |
BCR | intron:8;13;14 | MET | intron:14 |
BRAF | intron:7;8;9;10 | MYC | intron:1 |
BRCA1 | intron:2;7;8;12;16;19;20 | NOTCH2 | intron:26 |
BRCA2 | intron:2 | NTRK1 | intron:6;7;8;9 |
CD74 | UTR;intron:6;7;8 | NTRK2 | intron:12;15 |
ETV4 | intron:5;6 | NUTM1 | intron:1 |
ETV5 | intron:6;7 | PDGFRA | intron:7;9;11 |
ETV6 | intron:5;6 | RAF1 | intron:4;5;6;7;8;9 |
EWSR1 | intron:6;7;8;9;10;11;12;13 | RARA | intron: |
EZR | intron:10;11;12 | RET | intron:6;7;8;9;10;11 |
FGFR1 | intron:1;5 | ROS1 | intron:32;33;34;35 |
FGFR2 | intron:1;17 | SDC4 | intron:2 |
FGFR3 | intron14;16;17 | SLC34A2 | intron:4 |
KIT | intron:16 | TMPRSS2 | intron:1;2;3 |
99个微卫星不稳定位点
BAT26 |
BAT25 |
D5S346 |
D2S123 |
D17S250 |
NR21 |
NR24 |
NR27 |
MONO27 |
MSI:10-99 |