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
ENST00000355451 [[44418719, 44425720], [44431895, 44432084], [44444038, 44444182], [44467169, 44467302], [44524566, 44524883], [44530007, 44530479]] [[44425609, 44425720], [44431895, 44432084], [44444038, 44444182], [44467169, 44467302], [44524566, 44524883], [44530007, 44530199]]
ENST00000487118 [[44423189, 44423355], [44442240, 44442388]] None
ENST00000460110 [[44423189, 44425720], [44431895, 44432084], [44444038, 44444182], [44452789, 44452882], [44465498, 44465878], [44467169, 44467302], [44520890, 44521061]] None
ENST00000338427 [[44425412, 44425720], [44431895, 44432084], [44442240, 44442522]] None
ENST00000493613 [[44425491, 44425720], [44431895, 44432084], [44444038, 44444182], [44465498, 44465549]] None
ENST00000472246 [[44431983, 44432084], [44444038, 44444182], [44467169, 44467302], [44511367, 44511559]] None
ENST00000475952 [[44424949, 44425720], [44431895, 44432107]] None
ENST00000464812 [[44444111, 44444182], [44467169, 44467302], [44524566, 44524883], [44525129, 44525221], [44530007, 44530205]] None
ENST00000478769 [[44465508, 44465752], [44467169, 44467240]] None
ENST00000480209 [[44524042, 44524223], [44524566, 44524873]] None
ENST00000497978 [[44524667, 44524883], [44529421, 44529864]] None
NM_015332 [[44421964, 44425720], [44431895, 44432084], [44444038, 44444182], [44467169, 44467302], [44524566, 44524883], [44530007, 44530385]] [[44425609, 44425720], [44431895, 44432084], [44444038, 44444182], [44467169, 44467302], [44524566, 44524883], [44530007, 44530199]]
Promoter
Chrom Start End Description
chr7 44426058 44426097 CAGE_peak_11_at_NUDCD3_5end
chr7 44530208 44530263 CAGE_peak_1_at_NUDCD3_5end
chr7 44530394 44530452 CAGE_peak_2_at_NUDCD3_5end
chr7 44530457 44530473 CAGE_peak_4_at_NUDCD3_5end
chr7 44530483 44530518 CAGE_peak_3_at_NUDCD3_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr7 GH07I044307 44307117 44308432 1.17 [{'connected_gene': 'CAMK2B', 'score': 12.67}, {'connected_gene': 'POLM', 'score': 10.3}, {'connected_gene': 'AEBP1', 'score': 10.16}, {'connected_gene': 'NUDCD3', 'score': 6.55}, {'connected_gene': 'PIR57733', 'score': 0.15}]
chr7 GH07I044408 44408282 44409238 0.38 [{'connected_gene': 'CAMK2B', 'score': 11.53}, {'connected_gene': 'NUDCD3', 'score': 10.76}, {'connected_gene': 'NPC1L1', 'score': 10.71}, {'connected_gene': 'POLM', 'score': 9.7}, {'connected_gene': 'PIR50224', 'score': 0.37}, {'connected_gene': 'RPL32P18', 'score': 0.22}]
chr7 GH07I044308 44308869 44310400 0.99 [{'connected_gene': 'CAMK2B', 'score': 12.27}, {'connected_gene': 'NUDCD3', 'score': 10.52}, {'connected_gene': 'NPC1L1', 'score': 10.47}, {'connected_gene': 'POLM', 'score': 10.3}, {'connected_gene': 'PIR57733', 'score': 0.15}]
chr7 GH07I044333 44333390 44334874 0.43 [{'connected_gene': 'CAMK2B', 'score': 550.77}, {'connected_gene': 'NUDCD3', 'score': 10.21}, {'connected_gene': 'TMED4', 'score': 4.36}, {'connected_gene': 'PIR57733', 'score': 0.13}]
chr7 GH07I044465 44465869 44472006 0.71 [{'connected_gene': 'RPL32P18', 'score': 550.77}, {'connected_gene': 'PIR31596', 'score': 550.77}, {'connected_gene': 'GC07M044468', 'score': 550.77}, {'connected_gene': 'NUDCD3', 'score': 42.03}, {'connected_gene': 'RNU6-1097P', 'score': 11.98}, {'connected_gene': 'NPC1L1', 'score': 10.82}, {'connected_gene': 'CAMK2B', 'score': 10.73}, {'connected_gene': 'POLD2', 'score': 9.94}, {'connected_gene': 'AEBP1', 'score': 9.51}]
chr7 GH07I044613 44613873 44626909 1.64 [{'connected_gene': 'PURB', 'score': 25.43}, {'connected_gene': 'ZMIZ2', 'score': 16.61}, {'connected_gene': 'URGCP', 'score': 12.98}, {'connected_gene': 'ENSG00000228596', 'score': 11.51}, {'connected_gene': 'MYO1G', 'score': 10.35}, {'connected_gene': 'OGDH', 'score': 8.36}, {'connected_gene': 'DDX56', 'score': 7.92}, {'connected_gene': 'NUDCD3', 'score': 5.21}, {'connected_gene': 'TMED4', 'score': 1.75}, {'connected_gene': 'GC07M044657', 'score': 0.18}]
chr7 GH07I044256 44256577 44260518 1.35 [{'connected_gene': 'COA1', 'score': 4.36}, {'connected_gene': 'NUDCD3', 'score': 4.18}, {'connected_gene': 'PIR57733', 'score': 0.25}, {'connected_gene': 'CAMK2B', 'score': 0.18}]
chr7 GH07I044664 44664045 44666464 0.74 [{'connected_gene': 'PPIA', 'score': 4.67}, {'connected_gene': 'NUDCD3', 'score': 4.59}, {'connected_gene': 'GC07M044657', 'score': 0.28}, {'connected_gene': 'OGDH', 'score': 0.22}]
chr7 GH07I044628 44628409 44641999 1.81 [{'connected_gene': 'DDX56', 'score': 31.05}, {'connected_gene': 'OGDH', 'score': 22.15}, {'connected_gene': 'H2AFV', 'score': 21.75}, {'connected_gene': 'SNORA5C', 'score': 21.7}, {'connected_gene': 'PURB', 'score': 19.81}, {'connected_gene': 'SNORA5B', 'score': 19.34}, {'connected_gene': 'NACAD', 'score': 18.78}, {'connected_gene': 'NUDCD3', 'score': 13.99}, {'connected_gene': 'TMED4', 'score': 12.56}, {'connected_gene': 'ENSG00000228434', 'score': 12.36}, {'connected_gene': 'SPDYE1', 'score': 12.25}, {'connected_gene': 'MYO1G', 'score': 11.73}, {'connected_gene': 'ENSG00000228596', 'score': 11.49}, {'connected_gene': 'SNHG15', 'score': 10.99}, {'connected_gene': 'LINC01952', 'score': 10.91}, {'connected_gene': 'POLM', 'score': 10.23}, {'connected_gene': 'GCK', 'score': 9.78}, {'connected_gene': 'PPIA', 'score': 4.98}, {'connected_gene': 'CCM2', 'score': 2.48}, {'connected_gene': 'ZMIZ2', 'score': 2.07}, {'connected_gene': 'GC07M044657', 'score': 0.2}]
chr7 GH07I044561 44561695 44563011 1.12 [{'connected_gene': 'DDX56', 'score': 7.89}, {'connected_gene': 'NUDCD3', 'score': 5.31}, {'connected_gene': 'NPC1L1', 'score': 0.34}]
chr7 GH07I044572 44572334 44575315 2.04 [{'connected_gene': 'DDX56', 'score': 558.31}, {'connected_gene': 'NUDCD3', 'score': 5.29}, {'connected_gene': 'NPC1L1', 'score': 0.29}]
chr7 GH07I044576 44576534 44576891 0.46 [{'connected_gene': 'DDX56', 'score': 559.16}, {'connected_gene': 'NUDCD3', 'score': 4.78}, {'connected_gene': 'GC07M044579', 'score': 0.77}, {'connected_gene': 'PIR40932', 'score': 0.77}]
chr7 GH07I044644 44644568 44646182 0.2 [{'connected_gene': 'OGDH', 'score': 12.77}, {'connected_gene': 'ENSG00000228596', 'score': 10.81}, {'connected_gene': 'H2AFV', 'score': 10.76}, {'connected_gene': 'LINC01952', 'score': 10.76}, {'connected_gene': 'NUDCD3', 'score': 5.0}, {'connected_gene': 'PPIA', 'score': 4.99}, {'connected_gene': 'DDX56', 'score': 4.63}, {'connected_gene': 'GC07M044657', 'score': 0.22}]
chr7 GH07I044605 44605365 44609696 2.49 [{'connected_gene': 'OGDH', 'score': 550.77}, {'connected_gene': 'SPDYE1', 'score': 41.47}, {'connected_gene': 'ENSG00000228434', 'score': 19.41}, {'connected_gene': 'ENSG00000228596', 'score': 11.51}, {'connected_gene': 'SNHG15', 'score': 10.72}, {'connected_gene': 'TBRG4', 'score': 10.01}, {'connected_gene': 'DDX56', 'score': 7.97}, {'connected_gene': 'NUDCD3', 'score': 5.22}, {'connected_gene': 'GC07M044657', 'score': 0.15}]
chr7 GH07I044652 44652269 44657438 0.43 [{'connected_gene': 'OGDH', 'score': 12.69}, {'connected_gene': 'ENSG00000228596', 'score': 11.47}, {'connected_gene': 'NUDCD3', 'score': 4.87}, {'connected_gene': 'DDX56', 'score': 4.44}, {'connected_gene': 'GC07M044657', 'score': 0.25}]
chr7 GH07I044539 44539768 44545110 1.42 [{'connected_gene': 'NPC1L1', 'score': 550.77}, {'connected_gene': 'NUDCD3', 'score': 10.18}, {'connected_gene': 'DDX56', 'score': 0.29}]
chr7 GH07I044329 44329410 44330866 0.43 [{'connected_gene': 'NUDCD3', 'score': 5.84}, {'connected_gene': 'POLR2J4', 'score': 4.35}, {'connected_gene': 'CAMK2B', 'score': 0.77}, {'connected_gene': 'PIR57733', 'score': 0.13}]
chr7 GH07I044397 44397146 44399888 0.74 [{'connected_gene': 'NUDCD3', 'score': 30.05}, {'connected_gene': 'CAMK2B', 'score': 11.55}, {'connected_gene': 'NPC1L1', 'score': 10.94}, {'connected_gene': 'AEBP1', 'score': 10.38}, {'connected_gene': 'PIR50224', 'score': 0.44}, {'connected_gene': 'RPL32P18', 'score': 0.2}]
chr7 GH07I044319 44319333 44322331 0.62 [{'connected_gene': 'NUDCD3', 'score': 6.86}, {'connected_gene': 'CAMK2B', 'score': 0.39}, {'connected_gene': 'PIR57733', 'score': 0.14}]
chr7 GH07I044311 44311149 44314911 0.46 [{'connected_gene': 'NUDCD3', 'score': 15.01}, {'connected_gene': 'CAMK2B', 'score': 6.56}, {'connected_gene': 'PIR57733', 'score': 0.15}]
chr7 GH07I044431 44431401 44431600 0.74 [{'connected_gene': 'NUDCD3', 'score': 11.56}, {'connected_gene': 'RPL32P18', 'score': 0.28}, {'connected_gene': 'PIR50224', 'score': 0.28}]
chr7 GH07I044485 44485730 44487809 0.72 [{'connected_gene': 'NUDCD3', 'score': 27.56}, {'connected_gene': 'COA1', 'score': 4.89}, {'connected_gene': 'GC07M044472', 'score': 0.39}, {'connected_gene': 'GC07M044473', 'score': 0.39}]
chr7 GH07I044488 44488995 44491586 2.31 [{'connected_gene': 'NUDCD3', 'score': 580.76}, {'connected_gene': 'DDX56', 'score': 32.41}, {'connected_gene': 'TMED4', 'score': 12.48}, {'connected_gene': 'URGCP', 'score': 12.0}, {'connected_gene': 'SNORA5B', 'score': 11.02}, {'connected_gene': 'SNORA5C', 'score': 10.77}, {'connected_gene': 'PURB', 'score': 9.82}, {'connected_gene': 'GC07M044473', 'score': 0.37}, {'connected_gene': 'GC07M044472', 'score': 0.37}]
chr7 GH07I044460 44460000 44462086 0.97 [{'connected_gene': 'NUDCD3', 'score': 42.02}, {'connected_gene': 'POLD2', 'score': 10.35}, {'connected_gene': 'AEBP1', 'score': 10.18}, {'connected_gene': 'RPL32P18', 'score': 0.44}, {'connected_gene': 'PIR50224', 'score': 0.2}]
chr7 GH07I044685 44685523 44686015 0.43 [{'connected_gene': 'NUDCD3', 'score': 4.58}, {'connected_gene': 'GC07M044657', 'score': 0.37}, {'connected_gene': 'OGDH', 'score': 0.18}]
chr7 GH07I044533 44533237 44535162 0.6 [{'connected_gene': 'NUDCD3', 'score': 11.79}, {'connected_gene': 'NPC1L1', 'score': 0.44}, {'connected_gene': 'RPL36AP27', 'score': 0.34}]
chr7 GH07I044261 44261715 44266158 0.57 [{'connected_gene': 'NUDCD3', 'score': 5.07}, {'connected_gene': 'SNHG15', 'score': 4.52}, {'connected_gene': 'CAMK2B', 'score': 4.47}, {'connected_gene': 'PIR57733', 'score': 0.23}]
chr7 GH07I044437 44437371 44439956 0.43 [{'connected_gene': 'NUDCD3', 'score': 41.47}, {'connected_gene': 'RNU6-1097P', 'score': 10.85}, {'connected_gene': 'NPC1L1', 'score': 10.59}, {'connected_gene': 'CAMK2B', 'score': 10.58}, {'connected_gene': 'RPL32P18', 'score': 0.31}, {'connected_gene': 'PIR50224', 'score': 0.25}]
chr7 GH07I044477 44477442 44477691 0.86 [{'connected_gene': 'NUDCD3', 'score': 30.4}, {'connected_gene': 'GC07M044472', 'score': 0.44}, {'connected_gene': 'GC07M044473', 'score': 0.44}]
chr7 GH07I044580 44580315 44583561 2.23 [{'connected_gene': 'TMED4', 'score': 550.77}, {'connected_gene': 'GC07P044583', 'score': 550.77}, {'connected_gene': 'PIR35616', 'score': 550.77}, {'connected_gene': 'PIR31244', 'score': 550.77}, {'connected_gene': 'GC07P044582', 'score': 550.77}, {'connected_gene': 'DDX56', 'score': 20.45}, {'connected_gene': 'SNORA5C', 'score': 12.68}, {'connected_gene': 'ENSG00000228434', 'score': 12.36}, {'connected_gene': 'SPDYE1', 'score': 12.25}, {'connected_gene': 'SNHG15', 'score': 10.98}, {'connected_gene': 'POLM', 'score': 10.25}, {'connected_gene': 'SNORA5B', 'score': 10.02}, {'connected_gene': 'NUDCD3', 'score': 5.27}, {'connected_gene': 'PIR40932', 'score': 0.77}, {'connected_gene': 'GC07M044579', 'score': 0.77}]
chr7 GH07I044200 44200342 44202309 2.02 [{'connected_gene': 'YKT6', 'score': 560.98}, {'connected_gene': 'AEBP1', 'score': 11.18}, {'connected_gene': 'POLM', 'score': 11.09}, {'connected_gene': 'NUDCD3', 'score': 10.83}, {'connected_gene': 'CAMK2B', 'score': 9.92}, {'connected_gene': 'PIR57733', 'score': 0.44}]
chr7 GH07I044377 44377531 44384865 0.89 [{'connected_gene': 'PIR62286', 'score': 550.77}, {'connected_gene': 'PIR57100', 'score': 550.77}, {'connected_gene': 'NUDCD3', 'score': 29.9}, {'connected_gene': 'CAMK2B', 'score': 11.29}, {'connected_gene': 'NPC1L1', 'score': 10.76}]
chr7 GH07I044472 44472670 44474963 1.08 [{'connected_gene': 'GC07M044472', 'score': 550.77}, {'connected_gene': 'GC07M044473', 'score': 550.77}, {'connected_gene': 'NUDCD3', 'score': 30.38}, {'connected_gene': 'RNU6-1097P', 'score': 11.98}, {'connected_gene': 'CAMK2B', 'score': 10.62}, {'connected_gene': 'AEBP1', 'score': 9.51}, {'connected_gene': 'STK17A', 'score': 5.06}]
chr7 GH07I044595 44595332 44596915 0.52 [{'connected_gene': 'ENSG00000228596', 'score': 11.63}, {'connected_gene': 'NUDCD3', 'score': 5.24}, {'connected_gene': 'ENSG00000271586', 'score': 0.77}, {'connected_gene': 'PIR35616', 'score': 0.39}, {'connected_gene': 'GC07P044582', 'score': 0.39}]
chr7 GH07I044695 44695581 44698352 0.2 [{'connected_gene': 'ENSG00000228596', 'score': 11.73}, {'connected_gene': 'TMED4', 'score': 4.98}, {'connected_gene': 'NUDCD3', 'score': 4.77}, {'connected_gene': 'GC07M044657', 'score': 0.44}, {'connected_gene': 'OGDH', 'score': 0.16}]
chr7 GH07I044473 44472541 44472631 0.2 [{'connected_gene': 'GC07M044472', 'score': 550.77}, {'connected_gene': 'GC07M044473', 'score': 550.77}, {'connected_gene': 'RNU6-1097P', 'score': 11.98}, {'connected_gene': 'CAMK2B', 'score': 10.62}, {'connected_gene': 'AEBP1', 'score': 9.51}, {'connected_gene': 'NUDCD3', 'score': 0.37}]
chr7 GH07I044511 44510812 44512194 0.2 [{'connected_gene': 'GC07M044511', 'score': 550.77}, {'connected_gene': 'RPL36AP27', 'score': 550.77}, {'connected_gene': 'NUDCD3', 'score': 30.19}, {'connected_gene': 'NPC1L1', 'score': 12.12}, {'connected_gene': 'CAMK2B', 'score': 10.35}]

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