Mutation

List of causal flows influenced by the mutation.

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 regulon that contains genes with similar expression profiles and binding sites.

Causal Mechanistic Flows for Mutation DCHS1

RegulatorRoleRegulonCox Hazard Ratio (Regulon)Transcriptional Programs
SP1up-regulatesR-27300.102205Pr-89
MEF2Adown-regulatesR-18760.111678Pr-137
SP1up-regulatesR-27140.199684Pr-109
ENSG00000054598down-regulatesR-10060.227055Pr-56
NFKB1down-regulatesR-1579-0.260085Pr-137
CEBPBup-regulatesR-1768-0.337185Pr-109
SPIBup-regulatesR-6610.39364Pr-85
ELF3down-regulatesR-21390.44185Pr-56
ZNF143up-regulatesR-2325-0.447293Pr-3
ELF2down-regulatesR-9690.451308Pr-13
FOXK1down-regulatesR-1212-0.459405Pr-99
ENSG00000054598down-regulatesR-999-0.478127Pr-0
ENSG00000176887up-regulatesR-18990.507358Pr-50
MAZup-regulatesR-5070.537629Pr-129
MEF2Adown-regulatesR-18860.552959Pr-129
MEF2Adown-regulatesR-18720.561055Pr-56
ATF1up-regulatesR-5610.643765Pr-1
CEBPBup-regulatesR-1767-0.661208Pr-4
MAZup-regulatesR-5000.764562Pr-117
TRAF4down-regulatesR-3033-0.781484Pr-0
SP1up-regulatesR-2711-0.793825Pr-0
MAZup-regulatesR-508-0.810173Pr-0
FOXK1down-regulatesR-1188-0.824193Pr-0
HOXA3down-regulatesR-2210.849107Pr-18
ENSG00000054598down-regulatesR-997-0.856841Pr-0
ELF2down-regulatesR-985-0.875385Pr-102
HSF1down-regulatesR-52-0.875962Pr-9
ATF1up-regulatesR-559-0.936734Pr-0
ELF3down-regulatesR-2155-0.963705Pr-102
NFYCup-regulatesR-299-0.964307Pr-111
ERFdown-regulatesR-3310.969151Pr-136
SP1up-regulatesR-27131.08118Pr-87
SP1up-regulatesR-2728-1.12023Pr-9
ATF1up-regulatesR-562-1.1286Pr-0
CEBPBup-regulatesR-17621.16852Pr-127
MAZup-regulatesR-503-1.19474Pr-9
MEF2Adown-regulatesR-1878-1.24921Pr-9
ATF2up-regulatesR-30921.26346Pr-111
TRAF4down-regulatesR-30391.27922Pr-127
MAFKdown-regulatesR-2806-1.27994Pr-9
SP1up-regulatesR-27211.33792Pr-111
SP1up-regulatesR-27251.37906Pr-93
NFKB1down-regulatesR-1583-1.38564Pr-9
ELF3down-regulatesR-2143-1.40118Pr-9
FOXO1down-regulatesR-1408-1.42694Pr-9
SP1up-regulatesR-27181.4306Pr-127
MZF1down-regulatesR-30261.49051Pr-97

Genes (5)

THAP5, HMGB1, KPNA5, ATG9A, GLI4

Regulons (5)

R-2187, R-1977, R-1209, R-3026, R-2354

ATF1up-regulatesR-570-1.50191Pr-2
MZF1down-regulatesR-30171.54275Pr-85
MAFKdown-regulatesR-2803-1.72936Pr-136
HBP1down-regulatesR-18271.73978Pr-136
MAZup-regulatesR-511-1.75904Pr-0
MAZup-regulatesR-501-1.77175Pr-19
HSF1down-regulatesR-56-1.77472Pr-36
E2F2up-regulatesR-2947-1.79304Pr-102
ATF1up-regulatesR-560-1.81953Pr-4
MAZup-regulatesR-4951.8487Pr-87
NFYCup-regulatesR-293-1.90832Pr-4
CEBPBup-regulatesR-1763-1.95423Pr-103
ELF3down-regulatesR-2146-2.09745Pr-89
MEF2Adown-regulatesR-1885-2.09865Pr-89
VBP1up-regulatesR-2099-2.16715Pr-4
SP1up-regulatesR-2733-2.20943Pr-20
MZF1down-regulatesR-30212.2875Pr-87
RELAdown-regulatesR-1463-2.30399Pr-4
NFKB1down-regulatesR-1573-2.35352Pr-4
MAFKdown-regulatesR-2799-2.41258Pr-4
FOXO1down-regulatesR-1416-2.62977Pr-134

Genes (104)

MCTP1, RUVBL1, AMIGO3, HSD11B2, RHOG, FLII, TRIML2, RCC2, RAB39A, SEPHS2, ZNF467, ACBD4, SGSH, SHMT2, TRAPPC6B, C16orf72, EWSR1, SELENOF, CSF1, COPB2, ZFP90, TCN2, TARSL2, LMLN, ZBTB3, ZNF829, LAMP1, POLR3C, SESTD1, DCC, PLEKHG7, DPYD, IDO2, ZNF548, NHLRC3, MSANTD1, ARID2, KIAA0408, ZFP92, PAX5, SRGAP3, GDAP2, PDLIM7, HIST1H4C, ZNF785, ZNF786, KLHDC1, ZNF181, MYO1C, ADH5, SIRPA, HIBCH, QRICH1, ASNA1, SPRED2, HLA-DRB5, NCOA6, IPO9, LRIG2, FOXJ3, INPP5F, SELENOT, SPOUT1, PCMTD2, ZNF805, ASPDH, AKT1S1, ZBTB10, CFI, VGLL3, SCAF8, LAT, REPIN1, FBXO16, HAUS3, PPME1, DDX3X, NPEPL1, PPP3R1, C19orf73, TIAF1, PLCXD2, PISD, ARFGAP3, EIF4EBP3, TICAM2, TTC4, PCDHGA12, KIAA1147, THTPA, ZNF559-ZNF177, VBP1, PITX1, HOXD1

Regulons (119)

R-396, R-2169, R-1655, R-642, R-2117, R-1267, R-2764, R-2601, R-1748, R-1705, R-2634, R-172, R-2508, R-1102, R-1707, R-1656, R-1642, R-109, R-1270, R-1933, R-207, R-454, R-1100, R-2607, R-1875, R-57, R-797, R-108, R-1730, R-1741, R-580, R-2659, R-2763, R-944, R-2160, R-100, R-2180, R-2616, R-1769, R-2996, R-1082, R-2500, R-82, R-1310, R-1008, R-1099, R-2435, R-1641, R-380, R-2224, R-2596, R-1643, R-1158, R-1646, R-205, R-899, R-1077, R-516, R-1765, R-2334, R-1066, R-163, R-1376, R-671, R-1281, R-2502, R-2810, R-1582, R-2082, R-3166, R-1004, R-2888, R-822, R-1737, R-1535, R-2748, R-2332, R-2674, R-2614, R-2682, R-1276, R-1639, R-517, R-1732, R-1011, R-1466, R-289, R-2827, R-675, R-549, R-198, R-2841, R-2825, R-2598, R-1307, R-2902, R-515, R-1676, R-103, R-2742, R-1758, R-2229, R-1652, R-1715, R-1058, R-1644, R-1018, R-1653, R-1416, R-2828, R-2670, R-1528, R-446, R-2687, R-520, R-1108, R-1970, R-2513, R-2272

NFIL3down-regulatesR-1684-2.82079Pr-4
ENSG00000176887up-regulatesR-19012.8972Pr-48
ZNF143up-regulatesR-23082.93506Pr-51

Genes (3)

GPR3

Regulons (8)

R-1926, R-1648, R-3005, R-696, R-2308, R-1210, R-888, R-1531

E2F2up-regulatesR-2948-3.01545Pr-44

Genes (0)

Regulons (7)

R-1193, R-513, R-2948, R-1851, R-3018, R-332, R-280

FOXK1down-regulatesR-12043.06585Pr-77

Genes (0)

Regulons (4)

R-1204, R-2842, R-1300, R-1549

TRAF4down-regulatesR-30413.08861Pr-50
MAFKdown-regulatesR-2813-3.12874Pr-4
ENSG00000176887up-regulatesR-18963.13558Pr-48
MAZup-regulatesR-5053.21974Pr-70
MEF2Adown-regulatesR-1874-3.26785Pr-135
FOXK1down-regulatesR-12103.29949Pr-51

Genes (3)

GPR3

Regulons (8)

R-1926, R-1648, R-3005, R-696, R-2308, R-1210, R-888, R-1531

SPIBup-regulatesR-6783.32159Pr-87
RELAdown-regulatesR-14643.32257Pr-70
SP1up-regulatesR-27153.33045Pr-78

Genes (2)

STIMATE, DDOST

Regulons (6)

R-1941, R-2744, R-656, R-2715, R-2072, R-1512

ENSG00000054598down-regulatesR-1017-3.3625Pr-4
MZF1down-regulatesR-3019-3.42244Pr-35
NFKB1down-regulatesR-15813.67297Pr-69

Genes (1)

KLF13

Regulons (9)

R-3040, R-3188, R-1581, R-88, R-1665, R-334, R-703, R-783, R-2719

SPIBup-regulatesR-679-3.70577Pr-36
ENSG00000176887up-regulatesR-18953.70985Pr-50
NFYCup-regulatesR-2963.81355Pr-70
SP1up-regulatesR-2726-3.82052Pr-20
MEF2Dup-regulatesR-8703.82168Pr-52
SP1up-regulatesR-27163.88928Pr-52
SPIBup-regulatesR-6733.97206Pr-53

Genes (1)

MEX3C

Regulons (8)

R-1101, R-1493, R-1913, R-2890, R-673, R-2085, R-2524, R-504

MAZup-regulatesR-509-4.01621Pr-42
SPIBup-regulatesR-6674.06751Pr-48
ZNF143up-regulatesR-23244.09925Pr-50
FOXO1down-regulatesR-1414-4.10459Pr-61
MAZup-regulatesR-4964.15346Pr-52
MEF2Dup-regulatesR-8714.1859Pr-48
SP1up-regulatesR-2735-4.34716Pr-42
MAZup-regulatesR-4984.36616Pr-48
MEF2Adown-regulatesR-18804.46094Pr-128
ENSG00000176887up-regulatesR-18894.48939Pr-49

Genes (0)

Regulons (12)

R-1473, R-1514, R-441, R-1889, R-2611, R-2295, R-47, R-37, R-1873, R-86, R-497, R-1965

MEF2Adown-regulatesR-18734.83919Pr-49

Genes (0)

Regulons (12)

R-1473, R-1514, R-441, R-1889, R-2611, R-2295, R-47, R-37, R-1873, R-86, R-497, R-1965

MAZup-regulatesR-506-4.85353Pr-4
HBP1down-regulatesR-18474.92709Pr-70
ELF2down-regulatesR-9754.96438Pr-74
MAZup-regulatesR-4974.96461Pr-49

Genes (0)

Regulons (12)

R-1473, R-1514, R-441, R-1889, R-2611, R-2295, R-47, R-37, R-1873, R-86, R-497, R-1965

MAFup-regulatesR-1065.50825Pr-76

Genes (1)

Regulons (7)

R-1140, R-9, R-1791, R-355, R-1231, R-106, R-3024

FOXO1down-regulatesR-1407-6.04696Pr-130
MZF1down-regulatesR-30246.08041Pr-76

Genes (1)

Regulons (7)

R-1140, R-9, R-1791, R-355, R-1231, R-106, R-3024

SP1up-regulatesR-27126.54886Pr-54
ENSG00000176399up-regulatesR-10717.79759Pr-71
PARP1up-regulatesR-26368.12838Pr-68
E2F2up-regulatesR-29448.90615Pr-68

Mutation Causal Mechanistic Flow Network

Cytoscape network of the causal flows influenced by the mutation.

Influences from mutations (magenta chevrons) to regulators (blue triangles) and then from regulators to the given regulon (red square) are indicated with colored edges. Red-colored edges denote up-regulation or activation while green colored edges represent down-regulation or repression.

Mutation Survival Plots

Kaplan-Meier curves demonstrating the sub-stratification of clinical subtypes based upon the network activity of the most predictive individual or pair of genes as determined by the LASSO predictions