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
ENST00000581440 [[25621101, 25621461], [25628792, 25628982], [25630392, 25630661], [25631805, 25631929]] [[25621421, 25621461], [25628792, 25628982], [25630392, 25630661], [25631805, 25631929]]
ENST00000578312 [[25621105, 25621461], [25624212, 25624334], [25628813, 25628982], [25630392, 25630437]] None
ENST00000262394 [[25621105, 25621461], [25628813, 25628982], [25630392, 25630661], [25631805, 25631937], [25633807, 25633908], [25636125, 25636298], [25637086, 25637200], [25638534, 25638642], [25639235, 25640657]] [[25621421, 25621461], [25628813, 25628982], [25630392, 25630661], [25631805, 25631937], [25633807, 25633908], [25636125, 25636298], [25637086, 25637200], [25638534, 25638642], [25639235, 25639395]]
ENST00000583742 [[25621112, 25621461], [25628843, 25628982], [25630392, 25630448]] [[25621421, 25621461], [25628843, 25628982], [25630392, 25630448]]
ENST00000467843 [[25621118, 25621461], [25628813, 25628982], [25630392, 25630661], [25631805, 25631937], [25633807, 25633908], [25634769, 25636298], [25637086, 25637200], [25638534, 25638642], [25639235, 25640657]] None
ENST00000579733 [[25621128, 25621461], [25631805, 25631937], [25633807, 25633908], [25634769, 25635873]] [[25621421, 25621461], [25631805, 25631937], [25633807, 25633908], [25634769, 25634793]]
ENST00000583193 [[25621137, 25621461], [25633807, 25633908], [25634769, 25634896]] [[25621421, 25621461], [25633807, 25633908], [25634769, 25634793]]
ENST00000583786 [[25621139, 25621461], [25628817, 25628976]] None
ENST00000584354 [[25621139, 25621461], [25628813, 25629035]] None
ENST00000581185 [[25621139, 25621461], [25628813, 25628982], [25630392, 25630661], [25631805, 25631937], [25633807, 25634815]] [[25621421, 25621461], [25628813, 25628982], [25630392, 25630661], [25631805, 25631937], [25633807, 25633941]]
ENST00000427287 [[25621139, 25621461], [25628906, 25628982], [25630392, 25630661], [25631805, 25631937], [25633807, 25633908], [25634769, 25635018]] [[25621421, 25621461], [25628906, 25628982], [25630392, 25630661], [25631805, 25631937], [25633807, 25633908], [25634769, 25634793]]
ENST00000581089 [[25621147, 25621461], [25630392, 25630775]] None
ENST00000348811 [[25621156, 25621461], [25631805, 25631937], [25633807, 25633908], [25636125, 25636298], [25637086, 25637200], [25638534, 25638642], [25639235, 25639913]] [[25621421, 25621461], [25631805, 25631937], [25633807, 25633908], [25636125, 25636298], [25637086, 25637200], [25638534, 25638642], [25639235, 25639395]]
ENST00000582208 [[25621214, 25621461], [25628813, 25628982], [25631805, 25631937], [25633807, 25633884]] [[25621421, 25621461], [25628813, 25628982], [25631805, 25631821]]
ENST00000584114 [[25621371, 25621461], [25631805, 25631937], [25633807, 25633908], [25636125, 25636281]] [[25621421, 25621461], [25631805, 25631937], [25633807, 25633908], [25636125, 25636281]]
ENST00000487603 [[25629460, 25630661], [25631805, 25631937], [25633807, 25633908], [25634769, 25635233]] None
ENST00000583096 [[25630345, 25630661], [25631805, 25631937], [25633807, 25633908], [25636125, 25636298], [25637086, 25637198]] None
NM_134265 [[25621105, 25621461], [25631805, 25631937], [25633807, 25633908], [25636125, 25636298], [25637086, 25637200], [25638534, 25638642], [25639235, 25640645]] [[25621421, 25621461], [25631805, 25631937], [25633807, 25633908], [25636125, 25636298], [25637086, 25637200], [25638534, 25638642], [25639235, 25639395]]
NM_015626 [[25621105, 25621461], [25628813, 25628982], [25630392, 25630661], [25631805, 25631937], [25633807, 25633908], [25636125, 25636298], [25637086, 25637200], [25638534, 25638642], [25639235, 25640645]] [[25621421, 25621461], [25628813, 25628982], [25630392, 25630661], [25631805, 25631937], [25633807, 25633908], [25636125, 25636298], [25637086, 25637200], [25638534, 25638642], [25639235, 25639395]]
Promoter
Chrom Start End Description
chr17 25621129 25621146 CAGE_peak_1_at_WSB1_5end
chr17 25635771 25635786 CAGE_peak_2_at_WSB1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I027528 27528071 27537416 1.77 [{'connected_gene': 'KSR1', 'score': 23.99}, {'connected_gene': 'LGALS9', 'score': 10.13}, {'connected_gene': 'WSB1', 'score': 3.84}, {'connected_gene': 'PIR50901', 'score': 0.77}, {'connected_gene': 'LOC100420848', 'score': 0.44}]
chr17 GH17I027501 27501834 27507440 1.49 [{'connected_gene': 'KSR1', 'score': 17.41}, {'connected_gene': 'LGALS9', 'score': 4.39}, {'connected_gene': 'WSB1', 'score': 3.99}, {'connected_gene': 'PIR42403', 'score': 0.37}, {'connected_gene': 'GC17M027476', 'score': 0.34}]
chr17 GH17I027455 27455351 27461064 1.99 [{'connected_gene': 'KSR1', 'score': 564.58}, {'connected_gene': 'WSB1', 'score': 1.35}, {'connected_gene': 'LGALS9', 'score': 1.22}, {'connected_gene': 'GC17M027459', 'score': 0.77}]
chr17 GH17I027470 27470849 27475955 2.01 [{'connected_gene': 'KSR1', 'score': 562.54}, {'connected_gene': 'SYPL1P2', 'score': 11.07}, {'connected_gene': 'WSB1', 'score': 1.69}, {'connected_gene': 'GC17M027476', 'score': 0.44}, {'connected_gene': 'PIR32283', 'score': 0.44}]
chr17 GH17I027488 27488201 27489973 1.28 [{'connected_gene': 'LGALS9', 'score': 9.69}, {'connected_gene': 'KSR1', 'score': 8.39}, {'connected_gene': 'WSB1', 'score': 7.43}, {'connected_gene': 'GC17M027476', 'score': 0.44}, {'connected_gene': 'PIR42403', 'score': 0.29}]
chr17 GH17I027595 27595317 27596354 0.38 [{'connected_gene': 'LGALS9', 'score': 17.59}, {'connected_gene': 'WSB1', 'score': 10.34}, {'connected_gene': 'PIR39350', 'score': 0.44}, {'connected_gene': 'PIR50901', 'score': 0.22}, {'connected_gene': 'KSR1', 'score': 0.12}]
chr17 GH17I027590 27590506 27595144 0.46 [{'connected_gene': 'LGALS9', 'score': 17.58}, {'connected_gene': 'WSB1', 'score': 10.21}, {'connected_gene': 'PIR39350', 'score': 0.39}, {'connected_gene': 'PIR50901', 'score': 0.22}, {'connected_gene': 'KSR1', 'score': 0.12}]
chr17 GH17I027565 27565895 27581229 1.69 [{'connected_gene': 'LGALS9', 'score': 17.96}, {'connected_gene': 'TMEM199', 'score': 13.34}, {'connected_gene': 'ITM2BP1', 'score': 12.18}, {'connected_gene': 'WSB1', 'score': 9.93}, {'connected_gene': 'PIR39350', 'score': 0.29}, {'connected_gene': 'PIR50901', 'score': 0.28}, {'connected_gene': 'KSR1', 'score': 0.13}]
chr17 GH17I027255 27255851 27257484 0.82 [{'connected_gene': 'WSB1', 'score': 12.09}, {'connected_gene': 'ENSG00000265246', 'score': 0.37}, {'connected_gene': 'RPL34P31', 'score': 0.37}]
chr17 GH17I027246 27246948 27248251 1.15 [{'connected_gene': 'WSB1', 'score': 24.95}, {'connected_gene': 'ENSG00000265246', 'score': 0.44}, {'connected_gene': 'RPL34P31', 'score': 0.31}]
chr17 GH17I027263 27263906 27265689 0.95 [{'connected_gene': 'WSB1', 'score': 12.06}, {'connected_gene': 'TBC1D3P5', 'score': 4.08}, {'connected_gene': 'RPL34P31', 'score': 0.44}, {'connected_gene': 'ENSG00000265246', 'score': 0.34}]
chr17 GH17I027597 27597603 27598780 0.65 [{'connected_gene': 'WSB1', 'score': 10.34}, {'connected_gene': 'LGALS9', 'score': 8.46}, {'connected_gene': 'PIR39350', 'score': 0.44}, {'connected_gene': 'PIR50901', 'score': 0.21}, {'connected_gene': 'KSR1', 'score': 0.11}]
chr17 GH17I027206 27206601 27207641 1.11 [{'connected_gene': 'WSB1', 'score': 4.31}, {'connected_gene': 'LGALS9', 'score': 2.99}, {'connected_gene': 'LOC105371704', 'score': 0.34}, {'connected_gene': 'LOC105371703', 'score': 0.13}]
chr17 GH17I027348 27348201 27350440 1.48 [{'connected_gene': 'WSB1', 'score': 15.81}, {'connected_gene': 'LGALS9', 'score': 1.97}, {'connected_gene': 'SYPL1P2', 'score': 0.77}, {'connected_gene': 'GC17M027350', 'score': 0.77}, {'connected_gene': 'ENSG00000266313', 'score': 0.37}]
chr17 GH17I027216 27216488 27219756 0.96 [{'connected_gene': 'WSB1', 'score': 8.01}, {'connected_gene': 'LOC105371704', 'score': 0.39}, {'connected_gene': 'LOC105371703', 'score': 0.13}]
chr17 GH17I027238 27237000 27237200 0.63 [{'connected_gene': 'WSB1', 'score': 24.84}, {'connected_gene': 'ENSG00000265246', 'score': 0.77}, {'connected_gene': 'LOC105371704', 'score': 0.44}]
chr17 GH17I027236 27236815 27236984 0.64 [{'connected_gene': 'WSB1', 'score': 12.1}, {'connected_gene': 'ENSG00000265246', 'score': 0.77}, {'connected_gene': 'LOC105371704', 'score': 0.44}]
chr17 GH17I027343 27343846 27347232 1.56 [{'connected_gene': 'WSB1', 'score': 16.26}, {'connected_gene': 'SYPL1P2', 'score': 4.97}, {'connected_gene': 'ENSG00000266313', 'score': 0.39}]
chr17 GH17I027336 27336201 27336761 0.83 [{'connected_gene': 'WSB1', 'score': 11.87}, {'connected_gene': 'ENSG00000266313', 'score': 0.77}, {'connected_gene': 'SYPL1P2', 'score': 0.37}]
chr17 GH17I027309 27309032 27311664 0.52 [{'connected_gene': 'WSB1', 'score': 6.28}, {'connected_gene': 'GC17P027315', 'score': 0.77}, {'connected_gene': 'PIR61936', 'score': 0.44}]
chr17 GH17I027231 27231316 27231669 0.39 [{'connected_gene': 'LOC105371704', 'score': 550.77}, {'connected_gene': 'WSB1', 'score': 11.52}, {'connected_gene': 'LOC105371703', 'score': 0.11}]
chr17 GH17I027351 27351551 27354929 2.02 [{'connected_gene': 'SYPL1P2', 'score': 550.77}, {'connected_gene': 'GC17M027350', 'score': 550.77}, {'connected_gene': 'WSB1', 'score': 14.31}, {'connected_gene': 'ITM2BP1', 'score': 12.64}, {'connected_gene': 'LGALS9', 'score': 1.58}]
chr17 GH17I027300 27300785 27306196 0.57 [{'connected_gene': 'PIR61936', 'score': 550.77}, {'connected_gene': 'WSB1', 'score': 4.79}, {'connected_gene': 'TBC1D3P5', 'score': 3.98}, {'connected_gene': 'PIR52156', 'score': 0.44}]
chr17 GH17I027281 27281201 27283968 1.28 [{'connected_gene': 'ENSG00000265453', 'score': 550.77}, {'connected_gene': 'WSB1', 'score': 8.77}, {'connected_gene': 'LGALS9', 'score': 5.14}, {'connected_gene': 'MIR4522', 'score': 0.39}]
chr17 GH17I027298 27298801 27300200 0.66 [{'connected_gene': 'PIR52156', 'score': 0.77}, {'connected_gene': 'PIR61936', 'score': 0.77}, {'connected_gene': 'WSB1', 'score': 0.44}]
chr17 GH17I027314 27314366 27316771 1.06 [{'connected_gene': 'GC17P027315', 'score': 550.77}, {'connected_gene': 'ENSG00000266313', 'score': 0.37}, {'connected_gene': 'WSB1', 'score': 0.34}]
chr17 GH17I027306 27306287 27307239 0.38 [{'connected_gene': 'PIR61936', 'score': 0.77}, {'connected_gene': 'GC17P027315', 'score': 0.44}, {'connected_gene': 'WSB1', 'score': 0.39}]
chr17 GH17I027307 27307688 27307945 0.6 [{'connected_gene': 'PIR61936', 'score': 0.77}, {'connected_gene': 'GC17P027315', 'score': 0.44}, {'connected_gene': 'WSB1', 'score': 0.39}]
chr17 GH17I027292 27292984 27297803 2.57 [{'connected_gene': 'PIR52156', 'score': 550.77}, {'connected_gene': 'MIR4522', 'score': 550.77}, {'connected_gene': 'WSB1', 'score': 550.77}, {'connected_gene': 'ITM2BP1', 'score': 11.96}, {'connected_gene': 'TBC1D3P5', 'score': 4.0}, {'connected_gene': 'PIR61936', 'score': 0.44}]
chr17 GH17I027237 27237856 27246622 1.58 [{'connected_gene': 'ENSG00000265246', 'score': 550.77}, {'connected_gene': 'ITM2BP1', 'score': 49.8}, {'connected_gene': 'WSB1', 'score': 31.44}, {'connected_gene': 'LGALS9', 'score': 6.36}, {'connected_gene': 'RPL34P31', 'score': 0.29}]
chr17 GH17I027331 27331315 27334627 2.05 [{'connected_gene': 'ENSG00000266313', 'score': 550.77}, {'connected_gene': 'ITM2BP1', 'score': 18.67}, {'connected_gene': 'WSB1', 'score': 14.67}, {'connected_gene': 'LGALS9', 'score': 2.26}, {'connected_gene': 'GC17P027315', 'score': 0.37}]