Visualization of regulatory element with DNMs in transcripts



Visualization of de novo variants in transcripts


Visualization of original de novo CNV set
   There is no corresponding data published yet, we will update it when such data available.

Transcripts
Transcript ID Transcript exon region Coding exon region
ENST00000418139 [[74745257, 74745729], [74746166, 74746357], [74746682, 74746873], [74747041, 74747161], [74749706, 74749898], [74749982, 74750173], [74750245, 74750345], [74750436, 74750664], [74751049, 74751052]] [[74750105, 74750173], [74750245, 74750345], [74750436, 74750664], [74751049, 74751052]]
ENST00000393951 [[74745257, 74745729], [74746166, 74746357], [74746682, 74746873], [74747041, 74747161], [74749706, 74749898], [74749982, 74750141], [74750245, 74750345], [74750436, 74750664], [74751049, 74751434], [74752135, 74752329], [74752619, 74752875], [74753266, 74753318]] [[74745572, 74745729], [74746166, 74746357], [74746682, 74746873], [74747041, 74747161], [74749706, 74749898], [74749982, 74750141], [74750245, 74750345], [74750436, 74750664], [74751049, 74751434], [74752135, 74752329], [74752619, 74752856]]
ENST00000404568 [[74745257, 74745729], [74746166, 74746357], [74746682, 74746873], [74747041, 74747161], [74749706, 74749898], [74749982, 74750141], [74750245, 74750345], [74750436, 74750664], [74751049, 74751434], [74752135, 74752329], [74752619, 74752875], [74753262, 74753463]] [[74745572, 74745729], [74746166, 74746357], [74746682, 74746873], [74747041, 74747161], [74749706, 74749898], [74749982, 74750141], [74750245, 74750345], [74750436, 74750664], [74751049, 74751434], [74752135, 74752329], [74752619, 74752856]]
ENST00000483555 [[74746712, 74746873], [74747041, 74747161], [74749706, 74749898], [74749982, 74750157], [74750245, 74750429]] None
ENST00000473508 [[74746712, 74746873], [74747041, 74747161], [74749706, 74749898], [74749982, 74750664], [74751049, 74751434], [74752135, 74752329], [74752619, 74752875], [74753262, 74753408]] None
ENST00000495597 [[74750465, 74750664], [74750993, 74751383]] None
ENST00000451518 [[74751154, 74751434], [74752135, 74752329], [74753262, 74753343]] [[74751154, 74751434], [74752135, 74752212]]
ENST00000498552 [[74751393, 74751434], [74753262, 74753321]] None
NM_133637 [[74745257, 74745729], [74746166, 74746357], [74746682, 74746873], [74747041, 74747161], [74749706, 74749898], [74749982, 74750141], [74750245, 74750345], [74750436, 74750664], [74751049, 74751434], [74752135, 74752329], [74752619, 74752875], [74753262, 74753408]] [[74745572, 74745729], [74746166, 74746357], [74746682, 74746873], [74747041, 74747161], [74749706, 74749898], [74749982, 74750141], [74750245, 74750345], [74750436, 74750664], [74751049, 74751434], [74752135, 74752329], [74752619, 74752856]]
Promoter
Chrom Start End Description
chr2 74753294 74753302 CAGE_peak_6_at_DQX1_5end
chr2 74753305 74753331 CAGE_peak_2_at_DQX1_5end
chr2 74753332 74753373 CAGE_peak_1_at_DQX1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I074487 74487910 74492766 1.12 [{'connected_gene': 'LBX2', 'score': 23.21}, {'connected_gene': 'HTRA2', 'score': 11.82}, {'connected_gene': 'AUP1', 'score': 11.82}, {'connected_gene': 'DQX1', 'score': 11.79}, {'connected_gene': 'MOGS', 'score': 11.59}, {'connected_gene': 'TLX2', 'score': 11.59}, {'connected_gene': 'WBP1', 'score': 11.55}, {'connected_gene': 'DOK1', 'score': 10.9}, {'connected_gene': 'LOXL3', 'score': 10.88}, {'connected_gene': 'CCDC142', 'score': 0.44}, {'connected_gene': 'GC02P074500', 'score': 0.44}, {'connected_gene': 'TTC31', 'score': 0.44}]
chr2 GH02I074566 74566300 74569355 1.26 [{'connected_gene': 'LBX2', 'score': 13.64}, {'connected_gene': 'WBP1', 'score': 12.66}, {'connected_gene': 'HTRA2', 'score': 11.56}, {'connected_gene': 'AUP1', 'score': 11.56}, {'connected_gene': 'TLX2', 'score': 10.94}, {'connected_gene': 'PCGF1', 'score': 10.93}, {'connected_gene': 'MRPL53', 'score': 10.49}, {'connected_gene': 'MOGS', 'score': 10.48}, {'connected_gene': 'DQX1', 'score': 10.43}, {'connected_gene': 'RTKN', 'score': 10.0}, {'connected_gene': 'M1AP', 'score': 9.24}, {'connected_gene': 'SEMA4F', 'score': 9.24}, {'connected_gene': 'DOK1', 'score': 3.64}, {'connected_gene': 'LOXL3', 'score': 1.87}, {'connected_gene': 'GC02M074608', 'score': 0.28}, {'connected_gene': 'GC02M074606', 'score': 0.28}]
chr2 GH02I074587 74587600 74588001 0.98 [{'connected_gene': 'LBX2', 'score': 22.32}, {'connected_gene': 'DOK1', 'score': 15.79}, {'connected_gene': 'MRPL53', 'score': 11.92}, {'connected_gene': 'HTRA2', 'score': 11.41}, {'connected_gene': 'AUP1', 'score': 11.41}, {'connected_gene': 'PCGF1', 'score': 11.4}, {'connected_gene': 'DQX1', 'score': 11.16}, {'connected_gene': 'LOXL3', 'score': 11.13}, {'connected_gene': 'CCDC142', 'score': 11.11}, {'connected_gene': 'TTC31', 'score': 11.11}, {'connected_gene': 'TLX2', 'score': 10.98}, {'connected_gene': 'M1AP', 'score': 10.01}, {'connected_gene': 'SEMA4F', 'score': 10.0}, {'connected_gene': 'GC02M074608', 'score': 0.37}, {'connected_gene': 'GC02M074606', 'score': 0.37}]
chr2 GH02I074583 74583142 74584763 1.32 [{'connected_gene': 'LOXL3', 'score': 12.01}, {'connected_gene': 'DOK1', 'score': 11.78}, {'connected_gene': 'HTRA2', 'score': 11.63}, {'connected_gene': 'AUP1', 'score': 11.63}, {'connected_gene': 'TLX2', 'score': 11.34}, {'connected_gene': 'PCGF1', 'score': 11.33}, {'connected_gene': 'CCDC142', 'score': 11.26}, {'connected_gene': 'TTC31', 'score': 11.26}, {'connected_gene': 'DQX1', 'score': 11.12}, {'connected_gene': 'LBX2', 'score': 10.95}, {'connected_gene': 'M1AP', 'score': 10.33}, {'connected_gene': 'SEMA4F', 'score': 10.31}, {'connected_gene': 'INO80B', 'score': 4.57}, {'connected_gene': 'GC02M074608', 'score': 0.34}, {'connected_gene': 'GC02M074606', 'score': 0.34}]
chr2 GH02I074570 74570655 74574999 1.52 [{'connected_gene': 'AUP1', 'score': 26.44}, {'connected_gene': 'MOGS', 'score': 24.76}, {'connected_gene': 'PCGF1', 'score': 24.2}, {'connected_gene': 'HTRA2', 'score': 22.96}, {'connected_gene': 'DOK1', 'score': 17.38}, {'connected_gene': 'TTC31', 'score': 15.05}, {'connected_gene': 'CCDC142', 'score': 14.17}, {'connected_gene': 'DUSP11', 'score': 13.27}, {'connected_gene': 'LBX2-AS1', 'score': 12.57}, {'connected_gene': 'MOB1A', 'score': 11.97}, {'connected_gene': 'ENSG00000273245', 'score': 11.13}, {'connected_gene': 'LBX2', 'score': 11.09}, {'connected_gene': 'TLX2', 'score': 10.93}, {'connected_gene': 'DQX1', 'score': 10.86}, {'connected_gene': 'MRPL53', 'score': 10.56}, {'connected_gene': 'WBP1', 'score': 10.54}, {'connected_gene': 'RTKN', 'score': 9.99}, {'connected_gene': 'M1AP', 'score': 9.25}, {'connected_gene': 'SEMA4F', 'score': 9.24}, {'connected_gene': 'LOXL3', 'score': 0.37}, {'connected_gene': 'GC02M074608', 'score': 0.29}, {'connected_gene': 'GC02M074606', 'score': 0.29}]
chr2 GH02I074513 74513713 74516751 1.35 [{'connected_gene': 'TLX2', 'score': 550.77}, {'connected_gene': 'LBX2', 'score': 25.25}, {'connected_gene': 'WBP1', 'score': 20.3}, {'connected_gene': 'INO80B', 'score': 14.95}, {'connected_gene': 'PCGF1', 'score': 12.76}, {'connected_gene': 'ALMS1P1', 'score': 10.92}, {'connected_gene': 'MRPL53', 'score': 10.74}, {'connected_gene': 'CCDC142', 'score': 10.43}, {'connected_gene': 'ENSG00000159239', 'score': 9.95}, {'connected_gene': 'DQX1', 'score': 0.39}]
chr2 GH02I074514 74513394 74513543 0.68 [{'connected_gene': 'TLX2', 'score': 550.77}, {'connected_gene': 'DQX1', 'score': 0.39}]
chr2 GH02I074569 74569535 74570537 0.43 [{'connected_gene': 'HTRA2', 'score': 22.46}, {'connected_gene': 'MOB1A', 'score': 15.02}, {'connected_gene': 'DUSP11', 'score': 14.86}, {'connected_gene': 'DOK1', 'score': 11.89}, {'connected_gene': 'AUP1', 'score': 11.54}, {'connected_gene': 'TTC31', 'score': 11.51}, {'connected_gene': 'ENSG00000273245', 'score': 11.42}, {'connected_gene': 'TLX2', 'score': 10.93}, {'connected_gene': 'PCGF1', 'score': 10.92}, {'connected_gene': 'ACTG2', 'score': 10.91}, {'connected_gene': 'MRPL53', 'score': 10.49}, {'connected_gene': 'MOGS', 'score': 10.48}, {'connected_gene': 'LBX2', 'score': 10.47}, {'connected_gene': 'WBP1', 'score': 10.47}, {'connected_gene': 'DQX1', 'score': 10.43}, {'connected_gene': 'ENSG00000270571', 'score': 10.39}, {'connected_gene': 'RTKN', 'score': 10.0}, {'connected_gene': 'M1AP', 'score': 9.25}, {'connected_gene': 'SEMA4F', 'score': 9.24}, {'connected_gene': 'LOXL3', 'score': 0.39}, {'connected_gene': 'GC02M074608', 'score': 0.28}, {'connected_gene': 'GC02M074606', 'score': 0.28}]
chr2 GH02I074551 74550761 74550783 0.4 [{'connected_gene': 'HTRA2', 'score': 11.69}, {'connected_gene': 'AUP1', 'score': 11.69}, {'connected_gene': 'DQX1', 'score': 10.72}, {'connected_gene': 'MRPL53', 'score': 10.68}, {'connected_gene': 'WBP1', 'score': 10.57}, {'connected_gene': 'MOGS', 'score': 10.41}, {'connected_gene': 'TLX2', 'score': 10.38}, {'connected_gene': 'PCGF1', 'score': 10.37}, {'connected_gene': 'DOK1', 'score': 0.77}, {'connected_gene': 'LOXL3', 'score': 0.44}]
chr2 GH02I074585 74585401 74585800 0.8 [{'connected_gene': 'DOK1', 'score': 16.79}, {'connected_gene': 'LOXL3', 'score': 12.01}, {'connected_gene': 'HTRA2', 'score': 11.62}, {'connected_gene': 'AUP1', 'score': 11.62}, {'connected_gene': 'TLX2', 'score': 11.34}, {'connected_gene': 'PCGF1', 'score': 11.33}, {'connected_gene': 'CCDC142', 'score': 11.26}, {'connected_gene': 'TTC31', 'score': 11.26}, {'connected_gene': 'DQX1', 'score': 11.12}, {'connected_gene': 'LBX2', 'score': 10.95}, {'connected_gene': 'M1AP', 'score': 10.33}, {'connected_gene': 'SEMA4F', 'score': 10.32}, {'connected_gene': 'GC02M074608', 'score': 0.37}, {'connected_gene': 'GC02M074606', 'score': 0.37}]
chr2 GH02I074575 74575378 74578799 1.4 [{'connected_gene': 'DOK1', 'score': 18.07}, {'connected_gene': 'LOXL3', 'score': 12.36}, {'connected_gene': 'HTRA2', 'score': 11.69}, {'connected_gene': 'AUP1', 'score': 11.69}, {'connected_gene': 'DQX1', 'score': 11.07}, {'connected_gene': 'TLX2', 'score': 11.03}, {'connected_gene': 'PCGF1', 'score': 11.02}, {'connected_gene': 'LBX2', 'score': 10.94}, {'connected_gene': 'CCDC142', 'score': 10.9}, {'connected_gene': 'TTC31', 'score': 10.9}, {'connected_gene': 'RTKN', 'score': 10.38}, {'connected_gene': 'C2orf81', 'score': 9.78}, {'connected_gene': 'WDR54', 'score': 9.78}, {'connected_gene': 'ENSG00000159239', 'score': 9.78}, {'connected_gene': 'MOB1A', 'score': 1.26}, {'connected_gene': 'GC02M074608', 'score': 0.31}, {'connected_gene': 'GC02M074606', 'score': 0.31}, {'connected_gene': 'M1AP', 'score': 0.19}]
chr2 GH02I074550 74550915 74556528 2.21 [{'connected_gene': 'DOK1', 'score': 555.78}, {'connected_gene': 'LOXL3', 'score': 550.77}, {'connected_gene': 'LBX2-AS1', 'score': 12.09}, {'connected_gene': 'HTRA2', 'score': 11.69}, {'connected_gene': 'AUP1', 'score': 11.69}, {'connected_gene': 'TLX2', 'score': 11.07}, {'connected_gene': 'PCGF1', 'score': 11.06}, {'connected_gene': 'DQX1', 'score': 10.7}, {'connected_gene': 'MRPL53', 'score': 10.67}, {'connected_gene': 'WBP1', 'score': 10.57}, {'connected_gene': 'MOGS', 'score': 10.41}, {'connected_gene': 'M1AP', 'score': 5.85}, {'connected_gene': 'INO80B', 'score': 4.5}]
chr2 GH02I074525 74525598 74526943 1.43 [{'connected_gene': 'DQX1', 'score': 550.77}, {'connected_gene': 'AUP1', 'score': 0.77}, {'connected_gene': 'TLX2', 'score': 0.39}]