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
ENST00000376573 [[22823777, 22826210], [22828899, 22829003], [22830732, 22830976], [22839587, 22839701], [22856779, 22856818], [22862239, 22862386], [22880557, 22880710], [22896855, 22896952], [22898548, 22898646], [23003111, 23003484]] [[22826129, 22826210], [22828899, 22829003], [22830732, 22830976], [22839587, 22839701], [22856779, 22856818], [22862239, 22862386], [22880557, 22880710], [22896855, 22896952], [22898548, 22898646], [23003111, 23003255]]
ENST00000545335 [[22825943, 22826210], [22828899, 22829003], [22830732, 22830976], [22839587, 22839701], [22856779, 22856818], [22862239, 22862386], [22880557, 22880710], [22896855, 22896952], [22898548, 22898646], [23002864, 23003037]] [[22826129, 22826210], [22828899, 22829003], [22830732, 22830976], [22839587, 22839701], [22856779, 22856818], [22862239, 22862386], [22880557, 22880710], [22896855, 22896952], [22898548, 22898613]]
ENST00000605011 [[22930950, 22930991], [22935147, 22935201], [22948538, 22948659], [22950671, 22950804], [22980550, 22980759]] None
ENST00000323883 [[22825666, 22826210], [22828899, 22829003], [22830732, 22830976], [22839587, 22839701], [22856779, 22856818], [22857941, 22857983], [22862239, 22862386], [22880557, 22880642]] [[22826129, 22826210], [22828899, 22829003], [22830732, 22830976], [22839587, 22839701], [22856779, 22856818], [22857941, 22857983], [22862239, 22862386], [22880557, 22880587]]
ENST00000474335 [[22825821, 22826210], [22828394, 22828564]] None
ENST00000604912 [[22830880, 22830976], [22839587, 22839701], [22856779, 22856818], [22862239, 22862386], [22880557, 22880604]] [[22830880, 22830976], [22839587, 22839701], [22856779, 22856818], [22862239, 22862386], [22880557, 22880587]]
ENST00000422321 [[22856465, 22856699], [22856779, 22856818], [22862239, 22862386], [22880557, 22880710], [22896855, 22896952], [22898548, 22898646]] None
ENST00000432610 [[22896746, 22896952], [22898548, 22898646]] None
NM_001330062 [[22823765, 22826210], [22828899, 22829003], [22830732, 22830976], [22839587, 22839701], [22856779, 22856818], [22862239, 22862386], [22880557, 22880710], [22896855, 22896952], [22898548, 22898646], [23002864, 23003037]] [[22826129, 22826210], [22828899, 22829003], [22830732, 22830976], [22839587, 22839701], [22856779, 22856818], [22862239, 22862386], [22880557, 22880710], [22896855, 22896952], [22898548, 22898613]]
NM_005028 [[22823765, 22826210], [22828899, 22829003], [22830732, 22830976], [22839587, 22839701], [22856779, 22856818], [22862239, 22862386], [22880557, 22880710], [22896855, 22896952], [22898548, 22898646], [23003111, 23003503]] [[22826129, 22826210], [22828899, 22829003], [22830732, 22830976], [22839587, 22839701], [22856779, 22856818], [22862239, 22862386], [22880557, 22880710], [22896855, 22896952], [22898548, 22898646], [23003111, 23003255]]
Promoter
Chrom Start End Description
chr10 22825620 22825656 CAGE_peak_2_at_PIP4K2A_5end
chr10 22825878 22825894 CAGE_peak_5_at_PIP4K2A_5end
chr10 23003406 23003417 CAGE_peak_4_at_PIP4K2A_5end
chr10 23003436 23003459 CAGE_peak_3_at_PIP4K2A_5end
chr10 23003460 23003562 CAGE_peak_1_at_PIP4K2A_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I022572 22572713 22574443 0.83 [{'connected_gene': 'BMI1', 'score': 12.74}, {'connected_gene': 'PIP4K2A', 'score': 6.26}, {'connected_gene': 'LOC105376453', 'score': 5.52}, {'connected_gene': 'TRP-GGG1-1', 'score': 0.44}, {'connected_gene': 'ENSG00000279819', 'score': 0.13}]
chr10 GH10I022553 22553052 22553201 1.16 [{'connected_gene': 'BMI1', 'score': 12.74}, {'connected_gene': 'ENSG00000261671', 'score': 9.74}, {'connected_gene': 'TRP-GGG1-1', 'score': 0.39}, {'connected_gene': 'LOC105376450', 'score': 0.18}, {'connected_gene': 'PIP4K2A', 'score': 0.1}]
chr10 GH10I023556 23556801 23557522 0.61 [{'connected_gene': 'KIAA1217', 'score': 10.1}, {'connected_gene': 'PIP4K2A', 'score': 4.56}, {'connected_gene': 'GC10P023565', 'score': 0.44}, {'connected_gene': 'LOC105376454', 'score': 0.39}]
chr10 GH10I022596 22596240 22638514 1.83 [{'connected_gene': 'PIP4K2A', 'score': 20.83}, {'connected_gene': 'BMI1', 'score': 20.81}, {'connected_gene': 'ENSG00000261671', 'score': 9.73}, {'connected_gene': 'MSRB2', 'score': 5.22}, {'connected_gene': 'COMMD3', 'score': 4.95}, {'connected_gene': 'TRP-GGG1-1', 'score': 0.23}, {'connected_gene': 'ENSG00000279819', 'score': 0.18}]
chr10 GH10I022641 22641429 22660419 1.31 [{'connected_gene': 'PIP4K2A', 'score': 20.04}, {'connected_gene': 'COMMD3', 'score': 5.09}, {'connected_gene': 'ENSG00000279819', 'score': 0.26}, {'connected_gene': 'TRP-GGG1-1', 'score': 0.17}]
chr10 GH10I022638 22638536 22639619 0.2 [{'connected_gene': 'PIP4K2A', 'score': 6.99}, {'connected_gene': 'COMMD3', 'score': 4.09}, {'connected_gene': 'ENSG00000279819', 'score': 0.22}, {'connected_gene': 'TRP-GGG1-1', 'score': 0.18}]
chr10 GH10I022675 22675777 22687080 1.48 [{'connected_gene': 'PIP4K2A', 'score': 20.27}, {'connected_gene': 'COMMD3', 'score': 4.37}, {'connected_gene': 'ENSG00000279819', 'score': 0.39}, {'connected_gene': 'TRP-GGG1-1', 'score': 0.13}]
chr10 GH10I022664 22664356 22670593 1.34 [{'connected_gene': 'PIP4K2A', 'score': 6.53}, {'connected_gene': 'COMMD3', 'score': 4.75}, {'connected_gene': 'ENSG00000279819', 'score': 0.31}, {'connected_gene': 'TRP-GGG1-1', 'score': 0.15}]
chr10 GH10I022737 22737712 22738001 0.93 [{'connected_gene': 'PIP4K2A', 'score': 12.44}, {'connected_gene': 'RNU6-413P', 'score': 0.25}]
chr10 GH10I022742 22742336 22743241 0.72 [{'connected_gene': 'PIP4K2A', 'score': 0.31}, {'connected_gene': 'RNU6-413P', 'score': 0.26}]
chr10 GH10I022720 22720599 22721049 0.43 [{'connected_gene': 'PIP4K2A', 'score': 0.44}, {'connected_gene': 'RNU6-413P', 'score': 0.2}]
chr10 GH10I022723 22723167 22724200 0.98 [{'connected_gene': 'PIP4K2A', 'score': 0.44}, {'connected_gene': 'RNU6-413P', 'score': 0.21}]
chr10 GH10I022574 22574686 22581643 0.49 [{'connected_gene': 'PIP4K2A', 'score': 6.44}, {'connected_gene': 'LOC105376453', 'score': 5.41}, {'connected_gene': 'YWHAZP3', 'score': 4.47}, {'connected_gene': 'TRP-GGG1-1', 'score': 0.39}, {'connected_gene': 'ENSG00000279819', 'score': 0.13}]
chr10 GH10I022850 22850980 22852291 0.7 [{'connected_gene': 'PIP4K2A', 'score': 12.7}, {'connected_gene': 'LOC105376451', 'score': 0.77}, {'connected_gene': 'GC10P022788', 'score': 0.21}]
chr10 GH10I022805 22805220 22806021 0.66 [{'connected_gene': 'PIP4K2A', 'score': 11.14}, {'connected_gene': 'GC10P022788', 'score': 0.37}, {'connected_gene': 'LOC105376451', 'score': 0.25}]
chr10 GH10I022513 22513601 22514400 1.09 [{'connected_gene': 'PIP4K2A', 'score': 6.09}, {'connected_gene': 'LOC105376450', 'score': 0.26}, {'connected_gene': 'TRP-GGG1-1', 'score': 0.25}]
chr10 GH10I023016 23015366 23015653 0.54 [{'connected_gene': 'PIP4K2A', 'score': 6.08}, {'connected_gene': 'RNA5SP304', 'score': 0.37}, {'connected_gene': 'MSRB2', 'score': 0.18}, {'connected_gene': 'ARMC3', 'score': 0.17}]
chr10 GH10I022988 22988972 22989141 0.86 [{'connected_gene': 'PIP4K2A', 'score': 6.3}, {'connected_gene': 'RNA5SP304', 'score': 0.44}, {'connected_gene': 'GC10M022921', 'score': 0.22}, {'connected_gene': 'ARMC3', 'score': 0.21}]
chr10 GH10I022531 22531325 22532455 0.54 [{'connected_gene': 'PIP4K2A', 'score': 8.7}, {'connected_gene': 'TRP-GGG1-1', 'score': 0.29}, {'connected_gene': 'LOC105376450', 'score': 0.21}]
chr10 GH10I022549 22549704 22550781 0.6 [{'connected_gene': 'PIP4K2A', 'score': 13.9}, {'connected_gene': 'TRP-GGG1-1', 'score': 0.39}, {'connected_gene': 'LOC105376450', 'score': 0.18}]
chr10 GH10I022554 22553824 22555521 1.25 [{'connected_gene': 'PIP4K2A', 'score': 7.98}, {'connected_gene': 'TRP-GGG1-1', 'score': 0.44}, {'connected_gene': 'LOC105376450', 'score': 0.18}]
chr10 GH10I022532 22532996 22540456 0.68 [{'connected_gene': 'PIP4K2A', 'score': 12.81}, {'connected_gene': 'TRP-GGG1-1', 'score': 0.31}, {'connected_gene': 'LOC105376450', 'score': 0.2}]
chr10 GH10I022540 22540935 22545978 0.49 [{'connected_gene': 'PIP4K2A', 'score': 15.36}, {'connected_gene': 'TRP-GGG1-1', 'score': 0.34}, {'connected_gene': 'LOC105376450', 'score': 0.19}]
chr10 GH10I022672 22672601 22673200 1.15 [{'connected_gene': 'PIP4K2A', 'score': 16.42}, {'connected_gene': 'ENSG00000279819', 'score': 0.34}, {'connected_gene': 'TRP-GGG1-1', 'score': 0.14}]
chr10 GH10I022687 22687316 22688351 0.2 [{'connected_gene': 'PIP4K2A', 'score': 12.96}, {'connected_gene': 'ENSG00000279819', 'score': 0.44}, {'connected_gene': 'TRP-GGG1-1', 'score': 0.13}]
chr10 GH10I022581 22581954 22585447 0.52 [{'connected_gene': 'PIP4K2A', 'score': 6.06}, {'connected_gene': 'TRP-GGG1-1', 'score': 0.34}, {'connected_gene': 'ENSG00000279819', 'score': 0.14}]
chr10 GH10I022591 22591773 22595682 0.38 [{'connected_gene': 'PIP4K2A', 'score': 20.2}, {'connected_gene': 'TRP-GGG1-1', 'score': 0.29}, {'connected_gene': 'ENSG00000279819', 'score': 0.15}]
chr10 GH10I022689 22689089 22692001 1.02 [{'connected_gene': 'PIP4K2A', 'score': 12.98}, {'connected_gene': 'ENSG00000279819', 'score': 0.77}, {'connected_gene': 'TRP-GGG1-1', 'score': 0.13}]
chr10 GH10I022639 22639942 22641069 0.38 [{'connected_gene': 'PIP4K2A', 'score': 7.41}, {'connected_gene': 'ENSG00000279819', 'score': 0.23}, {'connected_gene': 'TRP-GGG1-1', 'score': 0.18}]
chr10 GH10I022661 22661634 22663818 0.66 [{'connected_gene': 'PIP4K2A', 'score': 18.91}, {'connected_gene': 'ENSG00000279819', 'score': 0.29}, {'connected_gene': 'TRP-GGG1-1', 'score': 0.15}]
chr10 GH10I022589 22589071 22590726 0.2 [{'connected_gene': 'PIP4K2A', 'score': 6.6}, {'connected_gene': 'TRP-GGG1-1', 'score': 0.31}, {'connected_gene': 'ENSG00000279819', 'score': 0.15}]
chr10 GH10I022586 22586879 22588492 0.31 [{'connected_gene': 'PIP4K2A', 'score': 19.29}, {'connected_gene': 'TRP-GGG1-1', 'score': 0.34}, {'connected_gene': 'ENSG00000279819', 'score': 0.14}]
chr10 GH10I022566 22566033 22567157 0.2 [{'connected_gene': 'PIP4K2A', 'score': 7.54}, {'connected_gene': 'TRP-GGG1-1', 'score': 0.77}, {'connected_gene': 'ENSG00000279819', 'score': 0.13}]
chr10 GH10I022674 22674001 22675000 0.72 [{'connected_gene': 'PIP4K2A', 'score': 17.86}, {'connected_gene': 'ENSG00000279819', 'score': 0.34}, {'connected_gene': 'TRP-GGG1-1', 'score': 0.14}]
chr10 GH10I022709 22709368 22715386 2.2 [{'connected_gene': 'PIP4K2A', 'score': 550.77}, {'connected_gene': 'GC10P022702', 'score': 0.44}]
chr10 GH10I023051 23051316 23054257 1.05 [{'connected_gene': 'MSRB2', 'score': 10.59}, {'connected_gene': 'PIP4K2A', 'score': 4.66}, {'connected_gene': 'RNA5SP304', 'score': 0.22}]
chr10 GH10I022738 22738652 22738821 0.73 [{'connected_gene': 'OTUD1', 'score': 20.36}, {'connected_gene': 'PIP4K2A', 'score': 12.44}, {'connected_gene': 'ENSG00000261671', 'score': 11.65}, {'connected_gene': 'COMMD3', 'score': 10.17}, {'connected_gene': 'RNU6-413P', 'score': 0.25}]
chr10 GH10I022849 22849056 22850161 1.22 [{'connected_gene': 'ARMC3', 'score': 3.04}, {'connected_gene': 'PIP4K2A', 'score': 2.02}, {'connected_gene': 'LOC105376451', 'score': 0.77}, {'connected_gene': 'GC10P022788', 'score': 0.21}]
chr10 GH10I022765 22765788 22767010 0.69 [{'connected_gene': 'RNU6-413P', 'score': 12.86}, {'connected_gene': 'PIP4K2A', 'score': 11.11}]
chr10 GH10I022569 22569872 22571405 0.4 [{'connected_gene': 'LOC105376453', 'score': 4.99}, {'connected_gene': 'YWHAZP3', 'score': 4.72}, {'connected_gene': 'TRP-GGG1-1', 'score': 0.44}, {'connected_gene': 'ENSG00000279819', 'score': 0.13}, {'connected_gene': 'PIP4K2A', 'score': 0.11}]
chr10 GH10I022562 22562405 22565318 0.52 [{'connected_gene': 'TRP-GGG1-1', 'score': 550.77}, {'connected_gene': 'PIP4K2A', 'score': 13.04}, {'connected_gene': 'ENSG00000279819', 'score': 0.12}]
chr10 GH10I022587 22586312 22586481 0.72 [{'connected_gene': 'TRP-GGG1-1', 'score': 0.34}, {'connected_gene': 'ENSG00000279819', 'score': 0.14}, {'connected_gene': 'PIP4K2A', 'score': 0.13}]
chr10 GH10I022550 22550852 22551041 0.77 [{'connected_gene': 'TRP-GGG1-1', 'score': 0.39}, {'connected_gene': 'LOC105376450', 'score': 0.18}, {'connected_gene': 'PIP4K2A', 'score': 0.1}]
chr10 GH10I022671 22671401 22671600 0.4 [{'connected_gene': 'ENSG00000279819', 'score': 0.34}, {'connected_gene': 'PIP4K2A', 'score': 0.26}, {'connected_gene': 'TRP-GGG1-1', 'score': 0.14}]
chr10 GH10I022692 22692361 22695048 1.6 [{'connected_gene': 'ENSG00000279819', 'score': 550.77}, {'connected_gene': 'PIP4K2A', 'score': 0.34}, {'connected_gene': 'TRP-GGG1-1', 'score': 0.12}]
chr10 GH10I022707 22707152 22708969 0.43 [{'connected_gene': 'GC10P022702', 'score': 0.44}, {'connected_gene': 'PIP4K2A', 'score': 0.44}]
chr10 GH10I022700 22700001 22702661 1.19 [{'connected_gene': 'GC10P022702', 'score': 550.77}, {'connected_gene': 'ENSG00000279819', 'score': 0.44}, {'connected_gene': 'PIP4K2A', 'score': 0.39}]
chr10 GH10I022699 22699401 22699800 0.51 [{'connected_gene': 'GC10P022702', 'score': 0.77}, {'connected_gene': 'ENSG00000279819', 'score': 0.77}, {'connected_gene': 'PIP4K2A', 'score': 0.39}]
chr10 GH10I022704 22704238 22706406 1.12 [{'connected_gene': 'GC10P022702', 'score': 0.77}, {'connected_gene': 'PIP4K2A', 'score': 0.44}]
chr10 GH10I022697 22697478 22698781 0.43 [{'connected_gene': 'GC10P022702', 'score': 0.77}, {'connected_gene': 'ENSG00000279819', 'score': 0.77}, {'connected_gene': 'PIP4K2A', 'score': 0.37}]