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
ENST00000398722 [[44056935, 44057183], [44057616, 44057915], [44063549, 44063708], [44064981, 44065114], [44068934, 44069105], [44085800, 44085986], [44087500, 44087675], [44089660, 44089778], [44098091, 44098219], [44101059, 44101245], [44102063, 44102272], [44104428, 44104564], [44104670, 44104880], [44109139, 44109294], [44113124, 44113287], [44114297, 44114414], [44118118, 44118300], [44121738, 44121903], [44122689, 44122818], [44125279, 44125384], [44126857, 44127021], [44137318, 44137452], [44139410, 44139565], [44140045, 44140508], [44143027, 44143188], [44146219, 44146412], [44149404, 44149601], [44152048, 44152125], [44157669, 44157830], [44159592, 44159747], [44171895, 44172031], [44172460, 44172547], [44173562, 44173723], [44174293, 44174429], [44181179, 44181479]] [[44057145, 44057183], [44057616, 44057915], [44063549, 44063708], [44064981, 44065114], [44068934, 44069105], [44085800, 44085986], [44087500, 44087675], [44089660, 44089778], [44098091, 44098219], [44101059, 44101245], [44102063, 44102272], [44104428, 44104564], [44104670, 44104880], [44109139, 44109294], [44113124, 44113287], [44114297, 44114414], [44118118, 44118300], [44121738, 44121903], [44122689, 44122818], [44125279, 44125384], [44126857, 44127021], [44137318, 44137452], [44139410, 44139565], [44140045, 44140508], [44143027, 44143188], [44146219, 44146412], [44149404, 44149601], [44152048, 44152125], [44157669, 44157830], [44159592, 44159747], [44171895, 44172031], [44172460, 44172547], [44173562, 44173723], [44174293, 44174429], [44181179, 44181479]]
ENST00000536736 [[44057222, 44057915], [44063549, 44063708], [44064981, 44065114], [44068934, 44069105], [44085800, 44085986], [44087500, 44087675], [44089660, 44089778], [44098091, 44098219], [44102063, 44102272], [44104428, 44104564], [44104670, 44104880], [44109139, 44109294], [44113124, 44113287], [44114297, 44114414], [44118118, 44118300], [44121738, 44121903], [44122689, 44122818], [44125279, 44125384], [44126857, 44127021], [44137318, 44137452], [44139410, 44139565], [44140045, 44140508], [44143027, 44143188], [44146219, 44146412], [44149404, 44149601], [44152048, 44152125], [44157669, 44157830], [44159592, 44159747], [44171895, 44172031], [44172460, 44172547], [44173562, 44173723], [44174293, 44174429], [44181179, 44181430], [44184068, 44184192], [44190738, 44190887], [44198154, 44198253], [44219578, 44219763], [44221918, 44221999], [44229117, 44229232], [44236866, 44236996]] [[44057434, 44057915], [44063549, 44063708], [44064981, 44065114], [44068934, 44069105], [44085800, 44085986], [44087500, 44087675], [44089660, 44089778], [44098091, 44098219], [44102063, 44102272], [44104428, 44104564], [44104670, 44104880], [44109139, 44109294], [44113124, 44113287], [44114297, 44114414], [44118118, 44118300], [44121738, 44121903], [44122689, 44122818], [44125279, 44125384], [44126857, 44127021], [44137318, 44137452], [44139410, 44139565], [44140045, 44140508], [44143027, 44143188], [44146219, 44146412], [44149404, 44149601], [44152048, 44152125], [44157669, 44157830], [44159592, 44159747], [44171895, 44172031], [44172460, 44172547], [44173562, 44173723], [44174293, 44174429], [44181179, 44181430], [44184068, 44184192], [44190738, 44190887], [44198154, 44198253], [44219578, 44219763], [44221918, 44221999], [44229117, 44229232], [44236866, 44236996]]
ENST00000441551 [[44057412, 44057915], [44063549, 44063708], [44064981, 44065114], [44068934, 44069105], [44085800, 44085986], [44087500, 44087675], [44089660, 44089778], [44098091, 44098219], [44101059, 44101245], [44102063, 44102272], [44104428, 44104564], [44104670, 44104880], [44109139, 44109294], [44113124, 44113287], [44114297, 44114414], [44118118, 44118300], [44121738, 44121903], [44122689, 44122818], [44125279, 44125384], [44126857, 44127021], [44137318, 44137452], [44143027, 44143188], [44146219, 44146412], [44149404, 44149601], [44152048, 44152125], [44157669, 44157830], [44159592, 44159747], [44171895, 44172031], [44172460, 44172547], [44173562, 44173723], [44174293, 44174429], [44181179, 44181430], [44184068, 44184192], [44190738, 44190887], [44198154, 44198253], [44219578, 44219763], [44221918, 44221999], [44229117, 44229232], [44236866, 44236996]] [[44057434, 44057915], [44063549, 44063708], [44064981, 44065114], [44068934, 44069105], [44085800, 44085986], [44087500, 44087675], [44089660, 44089778], [44098091, 44098219], [44101059, 44101245], [44102063, 44102272], [44104428, 44104564], [44104670, 44104880], [44109139, 44109294], [44113124, 44113287], [44114297, 44114414], [44118118, 44118300], [44121738, 44121903], [44122689, 44122818], [44125279, 44125384], [44126857, 44127021], [44137318, 44137452], [44143027, 44143188], [44146219, 44146412], [44149404, 44149601], [44152048, 44152125], [44157669, 44157830], [44159592, 44159747], [44171895, 44172031], [44172460, 44172547], [44173562, 44173723], [44174293, 44174429], [44181179, 44181430], [44184068, 44184192], [44190738, 44190887], [44198154, 44198253], [44219578, 44219763], [44221918, 44221999], [44229117, 44229232], [44236866, 44236996]]
ENST00000335730 [[44089529, 44089778], [44098091, 44098219], [44102063, 44102272], [44104428, 44104564], [44104670, 44104880], [44109139, 44109294], [44113124, 44113287], [44114297, 44114414], [44118118, 44118300], [44121738, 44121903], [44122689, 44122818], [44125279, 44125384], [44126857, 44127021], [44137318, 44137452], [44139410, 44139565], [44140045, 44140508], [44143027, 44143188], [44146219, 44146412], [44149404, 44149601], [44152048, 44152125], [44157669, 44157830], [44159592, 44159747], [44171895, 44172031], [44172460, 44172547], [44173562, 44173723], [44174293, 44174429], [44181179, 44181626]] None
ENST00000300591 [[44056934, 44057183], [44057616, 44057915], [44063549, 44063708], [44064981, 44065114], [44068934, 44069105], [44085800, 44085986], [44087500, 44087675], [44089660, 44089778], [44098091, 44098219], [44101059, 44101245], [44102063, 44102272], [44104428, 44104564], [44104670, 44104880], [44109139, 44109294], [44113124, 44113287], [44114297, 44114414], [44118118, 44118300], [44121738, 44121903], [44122689, 44122818], [44125279, 44125384], [44126857, 44127021], [44137318, 44137452], [44137864, 44138018], [44139132, 44139275]] [[44057145, 44057183], [44057616, 44057915], [44063549, 44063708], [44064981, 44065114], [44068934, 44069105], [44085800, 44085986], [44087500, 44087675], [44089660, 44089778], [44098091, 44098219], [44101059, 44101245], [44102063, 44102272], [44104428, 44104564], [44104670, 44104880], [44109139, 44109294], [44113124, 44113287], [44114297, 44114414], [44118118, 44118300], [44121738, 44121903], [44122689, 44122818], [44125279, 44125384], [44126857, 44127021], [44137318, 44137335]]
ENST00000398705 [[44056935, 44057183], [44057602, 44057915], [44063549, 44063708], [44064981, 44065114], [44068934, 44069105], [44085800, 44085986], [44087500, 44087675], [44089660, 44089778], [44098091, 44098219], [44098841, 44099034]] [[44057180, 44057183], [44057602, 44057915], [44063549, 44063708], [44064981, 44065114], [44068934, 44069105], [44085800, 44085986], [44087500, 44087675], [44089660, 44089778], [44098091, 44098207]]
ENST00000579038 [[44056935, 44057183], [44057602, 44057915], [44063549, 44063708], [44064981, 44065114], [44068934, 44069105], [44085800, 44085986], [44087500, 44087675], [44089660, 44089778], [44098091, 44098219], [44101059, 44101245], [44102063, 44102272], [44104428, 44104564], [44104670, 44104880], [44109139, 44109294], [44113124, 44113287], [44114297, 44114414], [44118118, 44118300], [44121738, 44121903], [44122689, 44122818], [44125279, 44125384], [44126857, 44127021], [44136652, 44136732]] [[44057180, 44057183], [44057602, 44057915], [44063549, 44063708], [44064981, 44065114], [44068934, 44069105], [44085800, 44085986], [44087500, 44087675], [44089660, 44089778], [44098091, 44098219], [44101059, 44101245], [44102063, 44102272], [44104428, 44104564], [44104670, 44104880], [44109139, 44109294], [44113124, 44113287], [44114297, 44114414], [44118118, 44118300], [44121738, 44121903], [44122689, 44122816]]
ENST00000441893 [[44057222, 44057915], [44063549, 44063708], [44064981, 44065114], [44068934, 44069105], [44085800, 44085986], [44087500, 44087675], [44089660, 44089778], [44098091, 44098219], [44102063, 44102272], [44104428, 44104564], [44104670, 44104880], [44109139, 44109294], [44113124, 44113287], [44114297, 44114414], [44118118, 44118300], [44121738, 44121903], [44122689, 44122818], [44125279, 44125384], [44126857, 44127021], [44137318, 44137452], [44139132, 44139255]] [[44057434, 44057915], [44063549, 44063708], [44064981, 44065114], [44068934, 44069105], [44085800, 44085986], [44087500, 44087675], [44089660, 44089778], [44098091, 44098219], [44102063, 44102272], [44104428, 44104564], [44104670, 44104880], [44109139, 44109294], [44113124, 44113287], [44114297, 44114414], [44118118, 44118300], [44121738, 44121903], [44122689, 44122818], [44125279, 44125384], [44126857, 44127021], [44137318, 44137452], [44139132, 44139147]]
ENST00000582408 [[44057222, 44057915], [44063549, 44063708], [44064981, 44065114], [44068934, 44069105], [44085800, 44085986], [44087500, 44087675], [44089660, 44089778], [44098091, 44098219], [44102063, 44102272], [44104428, 44104564], [44104670, 44104880], [44109139, 44109294], [44113124, 44113287], [44114297, 44114414], [44118118, 44118300], [44121738, 44121903], [44122689, 44122818], [44125279, 44125384], [44126857, 44127021], [44137318, 44137452], [44139132, 44139255]] [[44057434, 44057915], [44063549, 44063708], [44064981, 44065114], [44068934, 44069105], [44085800, 44085986], [44087500, 44087675], [44089660, 44089778], [44098091, 44098219], [44102063, 44102272], [44104428, 44104564], [44104670, 44104880], [44109139, 44109294], [44113124, 44113287], [44114297, 44114414], [44118118, 44118300], [44121738, 44121903], [44122689, 44122818], [44125279, 44125384], [44126857, 44127021], [44137318, 44137335]]
ENST00000398686 [[44057235, 44057915], [44063549, 44063708], [44064981, 44065114], [44068934, 44069105], [44085800, 44085986], [44087500, 44087675], [44089660, 44089778], [44098091, 44098219], [44098841, 44099049]] [[44057434, 44057915], [44063549, 44063708], [44064981, 44065114], [44068934, 44069105], [44085800, 44085986], [44087500, 44087675], [44089660, 44089778], [44098091, 44098207]]
ENST00000414184 [[44085854, 44085986], [44087500, 44087675], [44089660, 44089778], [44098091, 44098219], [44100539, 44100661]] [[44085854, 44085986], [44087500, 44087675], [44089660, 44089778], [44098091, 44098207]]
ENST00000452425 [[44089774, 44089778], [44098091, 44098219], [44100260, 44100688]] [[44089774, 44089778], [44098091, 44098219], [44100260, 44100299]]
ENST00000536111 [[44109262, 44109294], [44113124, 44113287], [44113668, 44113722], [44114297, 44114414], [44118118, 44118300], [44121738, 44121903], [44122689, 44122818], [44125279, 44125384], [44126857, 44127021], [44135087, 44135334]] [[44113719, 44113722], [44114297, 44114414], [44118118, 44118300], [44121738, 44121903], [44122689, 44122818], [44125279, 44125384], [44126857, 44127021], [44135087, 44135143]]
ENST00000419859 [[44126969, 44127021], [44137318, 44137452], [44137864, 44138018], [44139036, 44139252]] [[44126969, 44127021], [44137318, 44137335]]
NM_144612 [[44057216, 44057915], [44063549, 44063708], [44064981, 44065114], [44068934, 44069105], [44085800, 44085986], [44087500, 44087675], [44089660, 44089778], [44098091, 44098219], [44102063, 44102272], [44104428, 44104564], [44104670, 44104880], [44109139, 44109294], [44113124, 44113287], [44114297, 44114414], [44118118, 44118300], [44121738, 44121903], [44122689, 44122818], [44125279, 44125384], [44126857, 44127021], [44137318, 44137452], [44139410, 44139565], [44140045, 44140508], [44143027, 44143188], [44146219, 44146412], [44149404, 44149601], [44152048, 44152125], [44157669, 44157830], [44159592, 44159747], [44171895, 44172031], [44172460, 44172547], [44173562, 44173723], [44174293, 44174429], [44181179, 44181430], [44184068, 44184192], [44190738, 44190887], [44198154, 44198253], [44219578, 44219763], [44221918, 44221999], [44229117, 44229232], [44236866, 44236996]] [[44057434, 44057915], [44063549, 44063708], [44064981, 44065114], [44068934, 44069105], [44085800, 44085986], [44087500, 44087675], [44089660, 44089778], [44098091, 44098219], [44102063, 44102272], [44104428, 44104564], [44104670, 44104880], [44109139, 44109294], [44113124, 44113287], [44114297, 44114414], [44118118, 44118300], [44121738, 44121903], [44122689, 44122818], [44125279, 44125384], [44126857, 44127021], [44137318, 44137452], [44139410, 44139565], [44140045, 44140508], [44143027, 44143188], [44146219, 44146412], [44149404, 44149601], [44152048, 44152125], [44157669, 44157830], [44159592, 44159747], [44171895, 44172031], [44172460, 44172547], [44173562, 44173723], [44174293, 44174429], [44181179, 44181430], [44184068, 44184192], [44190738, 44190887], [44198154, 44198253], [44219578, 44219763], [44221918, 44221999], [44229117, 44229232], [44236866, 44236996]]
NM_001173129 [[44056934, 44057183], [44057602, 44057915], [44063549, 44063708], [44064981, 44065114], [44068934, 44069105], [44085800, 44085986], [44087500, 44087675], [44089660, 44089778], [44098091, 44098219], [44098841, 44099049]] [[44057180, 44057183], [44057602, 44057915], [44063549, 44063708], [44064981, 44065114], [44068934, 44069105], [44085800, 44085986], [44087500, 44087675], [44089660, 44089778], [44098091, 44098207]]
NM_001308013 [[44056934, 44057183], [44057602, 44057915], [44063549, 44063708], [44064981, 44065114], [44068934, 44069105], [44085800, 44085986], [44087500, 44087675], [44089660, 44089778], [44098091, 44098219], [44101059, 44101245], [44102063, 44102272], [44104428, 44104564], [44104670, 44104880], [44109139, 44109294], [44113124, 44113287], [44114297, 44114414], [44118118, 44118300], [44121738, 44121903], [44122689, 44122818], [44125279, 44125384], [44126857, 44127021], [44136652, 44136732]] [[44057180, 44057183], [44057602, 44057915], [44063549, 44063708], [44064981, 44065114], [44068934, 44069105], [44085800, 44085986], [44087500, 44087675], [44089660, 44089778], [44098091, 44098219], [44101059, 44101245], [44102063, 44102272], [44104428, 44104564], [44104670, 44104880], [44109139, 44109294], [44113124, 44113287], [44114297, 44114414], [44118118, 44118300], [44121738, 44121903], [44122689, 44122816]]
NM_001145472 [[44056934, 44057183], [44057616, 44057915], [44063549, 44063708], [44064981, 44065114], [44068934, 44069105], [44085800, 44085986], [44087500, 44087675], [44089660, 44089778], [44098091, 44098219], [44101059, 44101245], [44102063, 44102272], [44104428, 44104564], [44104670, 44104880], [44109139, 44109294], [44113124, 44113287], [44114297, 44114414], [44118118, 44118300], [44121738, 44121903], [44122689, 44122818], [44125279, 44125384], [44126857, 44127021], [44137318, 44137452], [44137864, 44138018], [44139132, 44139270]] [[44057145, 44057183], [44057616, 44057915], [44063549, 44063708], [44064981, 44065114], [44068934, 44069105], [44085800, 44085986], [44087500, 44087675], [44089660, 44089778], [44098091, 44098219], [44101059, 44101245], [44102063, 44102272], [44104428, 44104564], [44104670, 44104880], [44109139, 44109294], [44113124, 44113287], [44114297, 44114414], [44118118, 44118300], [44121738, 44121903], [44122689, 44122818], [44125279, 44125384], [44126857, 44127021], [44137318, 44137335]]
NM_001145473 [[44057216, 44057915], [44063549, 44063708], [44064981, 44065114], [44068934, 44069105], [44085800, 44085986], [44087500, 44087675], [44089660, 44089778], [44098091, 44098219], [44098841, 44099049]] [[44057434, 44057915], [44063549, 44063708], [44064981, 44065114], [44068934, 44069105], [44085800, 44085986], [44087500, 44087675], [44089660, 44089778], [44098091, 44098207]]
Promoter
Chrom Start End Description
chr18 44181300 44181314 CAGE_peak_4_at_LOXHD1_5end
chr18 44181325 44181339 CAGE_peak_6_at_LOXHD1_5end
chr18 44181350 44181385 CAGE_peak_1_at_LOXHD1_5end
chr18 44181390 44181399 CAGE_peak_9_at_LOXHD1_5end
chr18 44181418 44181441 CAGE_peak_3_at_LOXHD1_5end
chr18 44181442 44181462 CAGE_peak_2_at_LOXHD1_5end
chr18 44237177 44237198 CAGE_peak_5_at_LOXHD1_5end
chr18 44237208 44237220 CAGE_peak_7_at_LOXHD1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr18 GH18I046600 46600258 46601885 0.42 [{'connected_gene': 'RNF165', 'score': 4.54}, {'connected_gene': 'LOXHD1', 'score': 3.09}, {'connected_gene': 'GC18M046613', 'score': 0.39}, {'connected_gene': 'GC18P046580', 'score': 0.34}]
chr18 GH18I046658 46658298 46658527 0.77 [{'connected_gene': 'LOXHD1', 'score': 550.77}, {'connected_gene': 'LOC105372096', 'score': 0.77}]
chr18 GH18I046540 46540333 46540679 0.25 [{'connected_gene': 'LOXHD1', 'score': 4.84}, {'connected_gene': 'GC18P046558', 'score': 0.37}, {'connected_gene': 'GC18P046450', 'score': 0.17}]
chr18 GH18I046519 46519067 46519126 0.5 [{'connected_gene': 'LOXHD1', 'score': 550.12}, {'connected_gene': 'GC18P046558', 'score': 0.28}, {'connected_gene': 'GC18P046450', 'score': 0.2}]
chr18 GH18I046661 46661138 46661227 0.52 [{'connected_gene': 'LOC105372096', 'score': 0.77}, {'connected_gene': 'LOXHD1', 'score': 0.77}]
chr18 GH18I046480 46480698 46481047 0.43 [{'connected_gene': 'GC18P046450', 'score': 0.29}, {'connected_gene': 'GC18P046558', 'score': 0.18}, {'connected_gene': 'LOXHD1', 'score': 0.1}]
chr18 GH18I046481 46481178 46481347 0.56 [{'connected_gene': 'GC18P046450', 'score': 0.29}, {'connected_gene': 'GC18P046558', 'score': 0.18}, {'connected_gene': 'LOXHD1', 'score': 0.1}]
chr18 GH18I046482 46480358 46480507 0.31 [{'connected_gene': 'GC18P046450', 'score': 0.31}, {'connected_gene': 'GC18P046558', 'score': 0.18}, {'connected_gene': 'LOXHD1', 'score': 0.1}]
chr18 GH18I046559 46559291 46559350 0.5 [{'connected_gene': 'GC18P046558', 'score': 550.77}, {'connected_gene': 'LOXHD1', 'score': 550.15}, {'connected_gene': 'GC18P046580', 'score': 0.34}]
chr18 GH18I046623 46623409 46623938 0.51 [{'connected_gene': 'GC18M046613', 'score': 0.44}, {'connected_gene': 'LOXHD1', 'score': 0.29}]