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 PKHD1L1

RegulatorRoleRegulonCox Hazard Ratio (Regulon)Transcriptional Programs
JUNdown-regulatesR-11820.0408673Pr-75
FOXO3down-regulatesR-2775-0.28044Pr-5
HMBOX1down-regulatesR-23820.378178Pr-62
FOXO3down-regulatesR-2776-0.554448Pr-66

Genes (3)

SHISAL2A, USP7, RUNDC1

Regulons (3)

R-2776, R-1184, R-825

SMAD4down-regulatesR-2357-0.642425Pr-60
JUNdown-regulatesR-11860.700789Pr-75
BBXdown-regulatesR-1536-0.809151Pr-10
MAFBdown-regulatesR-1730-0.820291Pr-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

SMAD4down-regulatesR-2353-0.946769Pr-58
JUNdown-regulatesR-1184-0.962738Pr-66

Genes (3)

SHISAL2A, USP7, RUNDC1

Regulons (3)

R-2776, R-1184, R-825

HMBOX1down-regulatesR-2383-0.967695Pr-114

Genes (3)

PCGF5, SAMD11, KCTD21

Regulons (7)

R-48, R-2383, R-624, R-231, R-1087, R-2653, R-107

NFATC1down-regulatesR-2207-1.00385Pr-15
NFATC1down-regulatesR-2204-1.15799Pr-10
SMAD4down-regulatesR-23581.49431Pr-117
CREB1down-regulatesR-277-1.54447Pr-35
CEBPDdown-regulatesR-1311-1.66857Pr-85
CREB1down-regulatesR-274-1.97415Pr-10
PPARGdown-regulatesR-2825-2.11214Pr-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

E2F1up-regulatesR-2176-2.17422Pr-61
NFATC1down-regulatesR-2202-2.7244Pr-19
PPARGdown-regulatesR-2828-2.75451Pr-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

JUNdown-regulatesR-1176-2.91332Pr-94
FOXO3down-regulatesR-2771-3.30433Pr-100
NR2C2down-regulatesR-13913.41844Pr-72
SMAD4down-regulatesR-2355-3.44256Pr-86
IRF4down-regulatesR-493-3.47489Pr-35
LMO2down-regulatesR-909-3.88749Pr-61
MAFBdown-regulatesR-17435.34371Pr-72
E2F8up-regulatesR-16268.62493Pr-68
E2F1up-regulatesR-21728.82921Pr-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