Gene Detail

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Gene Symbol RUNX1
Synonyms AML1 | AML1-EVI-1 | AMLCR1 | CBF2alpha | CBFA2 | EVI-1 | PEBP2aB | PEBP2alpha
Gene Description RUNX1, RUNX family transcription factor 1, is a transcription factor that binds to core binding factor beta (CBFB) and plays a role in hematopoiesis (PMID: 22150309, PMID: 23180629). Germline inactivating mutations in RUNX1 are common in familial platelet disorder with predisposition to leukemia (PMID: 32024352) and mutations and translocations have been implicated in several other hematologic cancers (PMID: 22150309, PMID: 30289875), including acute myeloid leukemia (PMID: 32208489) and the RUNX1-ETV6 fusion is common in pediatric B-cell acute leukemia (PMID: 32024352), while RUNX1 functions as an oncogene in T-cell leukemia (PMID: 32024352) and overexpression may associate with decreased survival in renal call carcinoma (PMID: 32156779).

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Molecular Profile Protein Effect Treatment Approaches
RUNX1 A107P loss of function - predicted
RUNX1 A107V unknown
RUNX1 A115Gfs*2 loss of function - predicted
RUNX1 A122fs loss of function - predicted
RUNX1 A122P unknown
RUNX1 A129E unknown
RUNX1 A160T loss of function
RUNX1 A208T unknown
RUNX1 A217V unknown
RUNX1 A288Rfs*284 loss of function - predicted
RUNX1 A288V unknown
RUNX1 A311T unknown
RUNX1 A33V loss of function - predicted
RUNX1 A36V unknown
RUNX1 C72fs loss of function - predicted
RUNX1 C72W loss of function - predicted
RUNX1 D133G unknown
RUNX1 D171G loss of function
RUNX1 D171N loss of function
RUNX1 D317N unknown
RUNX1 D424Gfs*149 no effect - predicted
RUNX1 D57N unknown
RUNX1 D66G unknown
RUNX1 D96Gfs*11 loss of function - predicted
RUNX1 D96Gfs*15 loss of function - predicted
RUNX1 D96Mfs*10 loss of function - predicted
RUNX1 E111_S114dup loss of function - predicted
RUNX1 E116_A120del unknown
RUNX1 E196G no effect
RUNX1 E27Q unknown
RUNX1 E289K unknown
RUNX1 E61* loss of function
RUNX1 F232Sfs*338 loss of function - predicted
RUNX1 F369Vfs*204 loss of function - predicted
RUNX1 F70L unknown
RUNX1 F89L unknown
RUNX1 fusion unknown
RUNX1 G100D unknown
RUNX1 G108D loss of function
RUNX1 G138* loss of function - predicted
RUNX1 G138D loss of function - predicted
RUNX1 G141R unknown
RUNX1 G141V loss of function
RUNX1 G143Efs*7 loss of function - predicted
RUNX1 G143fs loss of function - predicted
RUNX1 G172E loss of function - predicted
RUNX1 G172R unknown
RUNX1 G324Dfs*242 loss of function - predicted
RUNX1 G338S unknown
RUNX1 G393Hfs*172 unknown
RUNX1 G42R loss of function - predicted
RUNX1 G95R unknown
RUNX1 H58N loss of function - predicted
RUNX1 H78E loss of function - predicted
RUNX1 I150Hfs*36 loss of function
RUNX1 I150T loss of function - predicted
RUNX1 I166M unknown
RUNX1 I166T loss of function - predicted
RUNX1 I315Hfs*258 loss of function - predicted
RUNX1 I87Afs*25 loss of function
RUNX1 inact mut loss of function
RUNX1 K83E loss of function
RUNX1 K83N loss of function - predicted
RUNX1 K83Q no effect
RUNX1 K90* loss of function - predicted
RUNX1 K90N unknown
RUNX1 L117P loss of function
RUNX1 L134P unknown
RUNX1 L134Pfs*52 loss of function - predicted
RUNX1 L198* loss of function - predicted
RUNX1 L261Tfs*24 loss of function - predicted
RUNX1 L261V unknown
RUNX1 L290F unknown
RUNX1 L29S loss of function - predicted
RUNX1 L44M unknown
RUNX1 L62Pfs*49 loss of function
RUNX1 L71Sfs*24 loss of function
RUNX1 M240I unknown
RUNX1 M283* loss of function - predicted
RUNX1 M341Hfs*229 loss of function - predicted
RUNX1 M341V unknown
RUNX1 M439L no effect
RUNX1 mutant unknown
BCOR mut RUNX1 mut
RUNX1 N109K loss of function
RUNX1 N112S unknown
RUNX1 N69K unknown
RUNX1 N82S unknown
RUNX1 P103R loss of function
RUNX1 P156A loss of function - predicted
RUNX1 P157L unknown
RUNX1 P173S unknown
RUNX1 P176S unknown
RUNX1 P216L unknown
RUNX1 P216T unknown
RUNX1 P220Afs*14 loss of function - predicted
RUNX1 P22L unknown
RUNX1 P267S unknown
RUNX1 P323S unknown
RUNX1 P332Dfs*242 loss of function - predicted
RUNX1 P368L unknown
RUNX1 P398L no effect
RUNX1 P76T unknown
RUNX1 P86L unknown
RUNX1 P86S unknown
RUNX1 P98Qfs*8 loss of function - predicted
RUNX1 Q158* loss of function - predicted
RUNX1 Q158H loss of function
RUNX1 Q181* loss of function - predicted
RUNX1 Q186Rfs*24 loss of function - predicted
RUNX1 Q235* loss of function - predicted
RUNX1 Q237* loss of function - predicted
RUNX1 Q239* loss of function - predicted
RUNX1 Q245* loss of function - predicted
RUNX1 Q259Ifs*26 loss of function - predicted
RUNX1 Q308R unknown
RUNX1 Q308Rfs*259 loss of function - predicted
RUNX1 R135fs loss of function - predicted
RUNX1 R135G loss of function - predicted
RUNX1 R135K loss of function - predicted
RUNX1 R135S unknown
RUNX1 R139* loss of function
RUNX1 R139G loss of function
RUNX1 R139Q loss of function
RUNX1 R142Kfs*44 loss of function - predicted
RUNX1 R174* loss of function - predicted
RUNX1 R174G unknown
RUNX1 R174Q loss of function
RUNX1 R177* loss of function - predicted
RUNX1 R177Q loss of function
RUNX1 R178* loss of function - predicted
RUNX1 R180Q unknown
RUNX1 R205L unknown
RUNX1 R205W unknown
RUNX1 R223H no effect
RUNX1 R293* loss of function - predicted
RUNX1 R307Afs*266 loss of function - predicted
RUNX1 R307H unknown
RUNX1 R319H unknown
RUNX1 R349Hfs*221 loss of function - predicted
RUNX1 R400H unknown
RUNX1 R49H loss of function - predicted
RUNX1 R49S loss of function - predicted
RUNX1 R80C loss of function
RUNX1 R80H unknown
RUNX1 rearrange unknown
RUNX1 rearrange SF3B1 K700E
RUNX1 - MECOM gain of function
RUNX1 - RUNX1T1 gain of function
RUNX1 - RUNX1T1 KIT mut
RUNX1 - RUNX1T1 KIT N822K
RUNX1 - TACC1 unknown
RUNX1 - USP42 unknown
RUNX1 S114* loss of function - predicted
RUNX1 S114L loss of function - predicted
RUNX1 S114P no effect - predicted
RUNX1 S140_G141del unknown
RUNX1 S191Afs*4 loss of function - predicted
RUNX1 S195Pfs*15 loss of function - predicted
RUNX1 S249Tfs*322 loss of function - predicted
RUNX1 S257Dfs*22 loss of function - predicted
RUNX1 S268F unknown
RUNX1 S268Gfs*311 loss of function - predicted
RUNX1 S276L unknown
RUNX1 S287Cfs*285 loss of function - predicted
RUNX1 S287F unknown
RUNX1 S291A unknown
RUNX1 S291fs loss of function - predicted
RUNX1 S295* loss of function - predicted
RUNX1 S295Ffs*278 loss of function - predicted
RUNX1 S329Lfs*244 loss of function - predicted
RUNX1 S383* loss of function - predicted
RUNX1 S390F unknown
RUNX1 S433N unknown
RUNX1 S67I loss of function
RUNX1 S67R loss of function
RUNX1 S73F loss of function - predicted
RUNX1 T101Rfs*11 loss of function
RUNX1 T121* loss of function - predicted
RUNX1 T121Mfs*6 loss of function - predicted
RUNX1 T149A no effect
RUNX1 T187Pfs*23 loss of function - predicted
RUNX1 T18Nfs*93 loss of function
RUNX1 T219Hfs*15 loss of function - predicted
RUNX1 T219M unknown
RUNX1 T273M unknown
RUNX1 V105* loss of function - predicted
RUNX1 V105Gfs*12 loss of function
RUNX1 V211A unknown
RUNX1 V269Qfs*13 loss of function - predicted
RUNX1 V425G unknown
RUNX1 V91A unknown
RUNX1 V92Ffs*6 loss of function
RUNX1 W252* loss of function - predicted
RUNX1 W79* loss of function
RUNX1 W79C loss of function - predicted
RUNX1 W79R loss of function - predicted
RUNX1 wild-type no effect
RUNX1 Y113* loss of function - predicted
RUNX1 Y162H unknown
RUNX1 Y260* loss of function