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 DNAH5

RegulatorRoleRegulonCox Hazard Ratio (Regulon)Transcriptional Programs
NRF1down-regulatesR-2707-0.0919786Pr-117
TCF7L1down-regulatesR-3174-0.135953Pr-99
NFIL3down-regulatesR-1686-0.145704Pr-25
ZBTB16down-regulatesR-5890.185533Pr-125
NF1down-regulatesR-127-0.22305Pr-18
POU2F1down-regulatesR-77-0.259838Pr-14
HBP1down-regulatesR-18320.278908Pr-14
FOXJ3down-regulatesR-2876-0.290335Pr-3
ATF1up-regulatesR-5640.297759Pr-93
SF1down-regulatesR-1907-0.317014Pr-3
RARAdown-regulatesR-160-0.331894Pr-25
TFEBdown-regulatesR-885-0.336909Pr-0
HMBOX1down-regulatesR-23820.378178Pr-62
HINFPdown-regulatesR-2624-0.44835Pr-35
IRX3down-regulatesR-2223-0.522117Pr-14
E2F2up-regulatesR-2943-0.530398Pr-58
FOXJ3down-regulatesR-28930.536867Pr-33
IKZF1down-regulatesR-9910.573701Pr-124
IRX3down-regulatesR-2234-0.576042Pr-88
POU2F1down-regulatesR-71-0.58757Pr-3
FOXJ3down-regulatesR-2881-0.590232Pr-34
SMAD4down-regulatesR-2357-0.642425Pr-60
FOXJ3down-regulatesR-2878-0.651802Pr-14
NFATC1down-regulatesR-21970.666306Pr-29
NFATC1down-regulatesR-2201-0.687031Pr-120
NRF1down-regulatesR-2709-0.785764Pr-99
THRAdown-regulatesR-570.789789Pr-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

ENSG00000179348down-regulatesR-1069-0.794339Pr-3
IRX3down-regulatesR-22280.802821Pr-3
BBXdown-regulatesR-1536-0.809151Pr-10
ZBTB16down-regulatesR-5800.838599Pr-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

MAFKdown-regulatesR-28140.847631Pr-124
STAT4down-regulatesR-2659-0.852357Pr-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

ZBTB16down-regulatesR-578-0.879917Pr-58
ZBTB16down-regulatesR-577-0.900835Pr-0
HBP1down-regulatesR-1835-0.944524Pr-34
SMAD4down-regulatesR-2353-0.946769Pr-58
NFATC1down-regulatesR-22050.94749Pr-33
FOXJ3down-regulatesR-2870-0.999227Pr-0
HBP1down-regulatesR-1838-1.00343Pr-112
NFATC1down-regulatesR-2207-1.00385Pr-15
POU2F1down-regulatesR-66-1.00411Pr-0
IRX3down-regulatesR-2232-1.01367Pr-3
RFX1down-regulatesR-2572-1.03711Pr-10
CREB1down-regulatesR-273-1.05492Pr-9
ELK3down-regulatesR-28451.08229Pr-136
POU2F1down-regulatesR-821.08267Pr-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

ATF1up-regulatesR-562-1.1286Pr-0
POU2F1down-regulatesR-67-1.13734Pr-58
FOXJ3down-regulatesR-2871-1.14551Pr-58
NFATC1down-regulatesR-2204-1.15799Pr-10
RFX3down-regulatesR-1673-1.17273Pr-10
ATF1up-regulatesR-571-1.19606Pr-10
STAT4down-regulatesR-2657-1.22095Pr-10
RARAdown-regulatesR-1641.24046Pr-119

Genes (4)

GPBAR1, RHD, GMFB, C5AR1

Regulons (4)

R-832, R-1181, R-58, R-164

RFX3down-regulatesR-1672-1.25932Pr-140

Genes (2)

CALR, ENTPD6

Regulons (4)

R-1157, R-1672, R-2042, R-1823

RARAdown-regulatesR-1481.3622Pr-5
FOXJ3down-regulatesR-2892-1.46097Pr-10
CREB1down-regulatesR-277-1.54447Pr-35
ZBTB16down-regulatesR-581-1.64909Pr-5
RFX1down-regulatesR-25661.66776Pr-136
STAT4down-regulatesR-2656-1.67476Pr-0
RARAdown-regulatesR-1561.71471Pr-16
ZBTB4down-regulatesR-20901.72041Pr-117
MAFKdown-regulatesR-2803-1.72936Pr-136
HBP1down-regulatesR-18271.73978Pr-136
HBP1down-regulatesR-18331.75599Pr-24
E2F2up-regulatesR-2947-1.79304Pr-102
ZBTB16down-regulatesR-5861.81277Pr-3
RFX3down-regulatesR-1670-1.81286Pr-4
E2F2up-regulatesR-29451.88745Pr-133
NRF1down-regulatesR-27051.91369Pr-136
CREB1down-regulatesR-274-1.97415Pr-10
HBP1down-regulatesR-18441.97565Pr-73
RFX3down-regulatesR-16752.03925Pr-121

Genes (3)

KPNA2, KIAA0040, ATP6V1E2

Regulons (3)

R-1958, R-1675, R-996

STAT4down-regulatesR-2649-2.07524Pr-86
POU2F1down-regulatesR-872.07888Pr-136
XBP1up-regulatesR-3062-2.11726Pr-25
IKZF1down-regulatesR-9962.22566Pr-121

Genes (3)

KPNA2, KIAA0040, ATP6V1E2

Regulons (3)

R-1958, R-1675, R-996

TCF7L1down-regulatesR-3170-2.27892Pr-14
HBP1down-regulatesR-1845-2.40009Pr-6
BBXdown-regulatesR-15332.412Pr-137
RARAdown-regulatesR-1692.42125Pr-138
ZBTB16down-regulatesR-588-2.42313Pr-10
FOXJ3down-regulatesR-2877-2.43517Pr-86
IKZF1down-regulatesR-990-2.55623Pr-4
RFX3down-regulatesR-1674-2.69724Pr-19
HBP1down-regulatesR-18302.71345Pr-73
NFATC1down-regulatesR-2202-2.7244Pr-19
HBP1down-regulatesR-1829-2.78136Pr-17
NRF1down-regulatesR-27032.85746Pr-72
NFIAup-regulatesR-354-2.9087Pr-60
RFX3down-regulatesR-16612.92167Pr-52
PARP1up-regulatesR-26383.03283Pr-126
JDP2down-regulatesR-358-3.10262Pr-17
MAFKdown-regulatesR-2813-3.12874Pr-4
RARAdown-regulatesR-153-3.1944Pr-61
RELAdown-regulatesR-14643.32257Pr-70
RELAdown-regulatesR-1465-3.41018Pr-17
SMAD4down-regulatesR-2355-3.44256Pr-86
RARAdown-regulatesR-166-3.60154Pr-20
RFX3down-regulatesR-16683.60705Pr-138
HBP1down-regulatesR-18423.856Pr-138
POU2F1down-regulatesR-884.3225Pr-69

Genes (1)

KLF13

Regulons (9)

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

NRF1down-regulatesR-27104.52843Pr-72
RFX3down-regulatesR-16654.55866Pr-69

Genes (1)

KLF13

Regulons (9)

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

POU2F1down-regulatesR-734.62299Pr-70
POU2F1down-regulatesR-864.85124Pr-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

HBP1down-regulatesR-18474.92709Pr-70
NFATC1down-regulatesR-2199-5.63196Pr-135
PARP1up-regulatesR-26368.12838Pr-68
E2F2up-regulatesR-29428.59906Pr-68
E2F8up-regulatesR-16268.62493Pr-68
E2F1up-regulatesR-21738.76486Pr-68
E2F1up-regulatesR-21728.82921Pr-68
E2F2up-regulatesR-29448.90615Pr-68
E2F8up-regulatesR-16279.26408Pr-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