Basic gene annotations are collected from Uniprot and displayed with links to original sources. A quick link to explore the genomic context with Uniprot Browser is available.
NF1 - neurofibromin 1
Function
Stimulates the GTPase activity of Ras. NF1 shows greater affinity for Ras GAP, but lower specific activity. May be a regulator of Ras activity.
Uniprot Browser| Entrez ID | EnsEMBL ID | Preferred Name | Uniprot ID |
|---|---|---|---|
| 4763 | ENSG00000196712 | NF1 | P21359 |
Causal Flows are statistically significant links between putative causal events (somatic mutations, copy number variations, chromosomal translocations, etc.) and the activity levels of regulators and regulons. In the causal flow, a mutation may causally activate or deactivate a downstream regulator which then might up- down-regulates a regulonthat contains genes with similar expression profiles and binding sites.
Causal Mechanistic Flows with ENSG00000196712 as Regulator
| ID | Mutation | Role | Regulator | Role | Regulon | # downstream regulons | # diffexp regulons | Drugs |
|---|---|---|---|---|---|---|---|---|
| CMF-01648 | ZNF814 | up-regulates | NF1 | activates | R-2315 | 11 | 6 | Drugs (13) Regulator Drugs (0)Regulon Drugs (13)BEROTRALSTAT HYDROCHLORIDE, LANATOSIDE C, AVORALSTAT, APROTININ, HUMAN C1-ESTERASE INHIBITOR, DIGOXIN, ACETYLDIGITOXIN, LANADELUMAB, ECALLANTIDE, DIGITOXIN, DESLANOSIDE, BEROTRALSTAT, ISTAROXIME |
| CMF-01651 | ZNF814 | up-regulates | NF1 | represses | R-2310 | 11 | 6 | Drugs (2) |
| CMF-01652 | ZNF814 | up-regulates | NF1 | represses | R-2309 | 11 | 6 | Drugs (1) |
| CMF-05174 | PLA2G4A | up-regulates | NF1 | represses | R-2310 | 11 | 2 | Drugs (2) |
| CMF-05706 | FAT2 | down-regulates | NF1 | activates | R-2315 | 11 | 1 | Drugs (13) Regulator Drugs (0)Regulon Drugs (13)BEROTRALSTAT HYDROCHLORIDE, LANATOSIDE C, AVORALSTAT, APROTININ, HUMAN C1-ESTERASE INHIBITOR, DIGOXIN, ACETYLDIGITOXIN, LANADELUMAB, ECALLANTIDE, DIGITOXIN, DESLANOSIDE, BEROTRALSTAT, ISTAROXIME |
| CMF-06052 | OTOA | up-regulates | NF1 | activates | R-2315 | 11 | 4 | Drugs (13) Regulator Drugs (0)Regulon Drugs (13)BEROTRALSTAT HYDROCHLORIDE, LANATOSIDE C, AVORALSTAT, APROTININ, HUMAN C1-ESTERASE INHIBITOR, DIGOXIN, ACETYLDIGITOXIN, LANADELUMAB, ECALLANTIDE, DIGITOXIN, DESLANOSIDE, BEROTRALSTAT, ISTAROXIME |
| CMF-06054 | OTOA | up-regulates | NF1 | represses | R-2310 | 11 | 4 | Drugs (2) |
| CMF-06055 | OTOA | up-regulates | NF1 | represses | R-2305 | 11 | 4 | Drugs (0) Regulator Drugs (0)Regulon Drugs (0) |
| CMF-07066 | ATRX | up-regulates | NF1 | represses | R-2310 | 11 | 7 | Drugs (2) |
| CMF-07067 | ATRX | up-regulates | NF1 | represses | R-2309 | 11 | 7 | Drugs (1) |
| CMF-07068 | ATRX | up-regulates | NF1 | represses | R-2305 | 11 | 7 | Drugs (0) Regulator Drugs (0)Regulon Drugs (0) |
| CMF-07212 | NELL1 | up-regulates | NF1 | activates | R-2315 | 11 | 1 | Drugs (13) Regulator Drugs (0)Regulon Drugs (13)BEROTRALSTAT HYDROCHLORIDE, LANATOSIDE C, AVORALSTAT, APROTININ, HUMAN C1-ESTERASE INHIBITOR, DIGOXIN, ACETYLDIGITOXIN, LANADELUMAB, ECALLANTIDE, DIGITOXIN, DESLANOSIDE, BEROTRALSTAT, ISTAROXIME |
| CMF-07499 | MAG | up-regulates | NF1 | activates | R-2315 | 11 | 1 | Drugs (13) Regulator Drugs (0)Regulon Drugs (13)BEROTRALSTAT HYDROCHLORIDE, LANATOSIDE C, AVORALSTAT, APROTININ, HUMAN C1-ESTERASE INHIBITOR, DIGOXIN, ACETYLDIGITOXIN, LANADELUMAB, ECALLANTIDE, DIGITOXIN, DESLANOSIDE, BEROTRALSTAT, ISTAROXIME |
| CMF-09635 | OR9G9 | down-regulates | NF1 | activates | R-2315 | 11 | 2 | Drugs (13) Regulator Drugs (0)Regulon Drugs (13)BEROTRALSTAT HYDROCHLORIDE, LANATOSIDE C, AVORALSTAT, APROTININ, HUMAN C1-ESTERASE INHIBITOR, DIGOXIN, ACETYLDIGITOXIN, LANADELUMAB, ECALLANTIDE, DIGITOXIN, DESLANOSIDE, BEROTRALSTAT, ISTAROXIME |
| CMF-10857 | PKD1L2 | up-regulates | NF1 | represses | R-2305 | 11 | 2 | Drugs (0) Regulator Drugs (0)Regulon Drugs (0) |
| CMF-11014 | BMP5 | up-regulates | NF1 | represses | R-2310 | 11 | 4 | Drugs (2) |
| CMF-11581 | MYH15 | up-regulates | NF1 | represses | R-2310 | 11 | 1 | Drugs (2) |
| CMF-12953 | HTR3E | up-regulates | NF1 | activates | R-2315 | 11 | 3 | Drugs (13) Regulator Drugs (0)Regulon Drugs (13)BEROTRALSTAT HYDROCHLORIDE, LANATOSIDE C, AVORALSTAT, APROTININ, HUMAN C1-ESTERASE INHIBITOR, DIGOXIN, ACETYLDIGITOXIN, LANADELUMAB, ECALLANTIDE, DIGITOXIN, DESLANOSIDE, BEROTRALSTAT, ISTAROXIME |
| CMF-12954 | HTR3E | up-regulates | NF1 | represses | R-2310 | 11 | 3 | Drugs (2) |
| CMF-13286 | SULF2 | up-regulates | NF1 | represses | R-2309 | 11 | 2 | Drugs (1) |
| CMF-13287 | SULF2 | up-regulates | NF1 | represses | R-2305 | 11 | 2 | Drugs (0) Regulator Drugs (0)Regulon Drugs (0) |
| CMF-13929 | HRH2 | down-regulates | NF1 | represses | R-2310 | 11 | 2 | Drugs (2) |
| CMF-14991 | PPEF2 | down-regulates | NF1 | represses | R-2305 | 11 | 1 | Drugs (0) Regulator Drugs (0)Regulon Drugs (0) |
| CMF-15863 | ZNF845 | up-regulates | NF1 | represses | R-2310 | 11 | 3 | Drugs (2) |
| CMF-15864 | ZNF845 | up-regulates | NF1 | represses | R-2305 | 11 | 3 | Drugs (0) Regulator Drugs (0)Regulon Drugs (0) |
| CMF-18033 | PRPF40B | up-regulates | NF1 | represses | R-2310 | 11 | 3 | Drugs (2) |
| CMF-18034 | PRPF40B | up-regulates | NF1 | represses | R-2309 | 11 | 3 | Drugs (1) |
| CMF-18035 | PRPF40B | up-regulates | NF1 | represses | R-2305 | 11 | 3 | Drugs (0) Regulator Drugs (0)Regulon Drugs (0) |
| CMF-19521 | NF1 | down-regulates | NF1 | represses | R-2310 | 11 | 7 | Drugs (2) |
| CMF-19522 | NF1 | down-regulates | NF1 | represses | R-2309 | 11 | 7 | Drugs (1) |
| CMF-19523 | NF1 | down-regulates | NF1 | represses | R-2305 | 11 | 7 | Drugs (0) Regulator Drugs (0)Regulon Drugs (0) |
| CMF-22826 | IDH1 | up-regulates | NF1 | represses | R-2310 | 11 | 8 | Drugs (2) |
| CMF-22827 | IDH1 | up-regulates | NF1 | represses | R-2309 | 11 | 8 | Drugs (1) |
| CMF-22829 | IDH1 | up-regulates | NF1 | represses | R-2305 | 11 | 8 | Drugs (0) Regulator Drugs (0)Regulon Drugs (0) |
| CMF-27643 | ANKRD36 | down-regulates | NF1 | represses | R-2310 | 11 | 5 | Drugs (2) |
| CMF-27644 | ANKRD36 | down-regulates | NF1 | represses | R-2309 | 11 | 5 | Drugs (1) |
| CMF-27645 | ANKRD36 | down-regulates | NF1 | represses | R-2305 | 11 | 5 | Drugs (0) Regulator Drugs (0)Regulon Drugs (0) |
| CMF-27704 | FAM83H | up-regulates | NF1 | represses | R-2310 | 11 | 5 | Drugs (2) |
| CMF-27705 | FAM83H | up-regulates | NF1 | represses | R-2309 | 11 | 5 | Drugs (1) |
| CMF-27706 | FAM83H | up-regulates | NF1 | represses | R-2305 | 11 | 5 | Drugs (0) Regulator Drugs (0)Regulon Drugs (0) |
| CMF-30656 | SALL4 | up-regulates | NF1 | represses | R-2305 | 11 | 1 | Drugs (0) Regulator Drugs (0)Regulon Drugs (0) |
| CMF-30710 | ABCA13 | up-regulates | NF1 | represses | R-2309 | 11 | 1 | Drugs (1) |