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
ENST00000406477 [[44395090, 44395291], [44395413, 44395553], [44489807, 44489897], [44495932, 44496003], [44514917, 44515020], [44527366, 44527507], [44528773, 44528889], [44532339, 44532398], [44536003, 44536023], [44543740, 44543802], [44547362, 44547431], [44553861, 44553963], [44559737, 44559810], [44564481, 44564803]] [[44395220, 44395291], [44395413, 44395553], [44489807, 44489897], [44495932, 44496003], [44514917, 44515020], [44527366, 44527507], [44528773, 44528889], [44532339, 44532398], [44536003, 44536023], [44543740, 44543802], [44547362, 44547431], [44553861, 44553963], [44559737, 44559810], [44564481, 44564558]]
ENST00000338758 [[44420156, 44420331], [44489807, 44489897], [44495932, 44496003], [44514917, 44515020], [44527366, 44527507], [44528773, 44528889], [44532339, 44532398], [44536003, 44536023], [44543740, 44543802], [44547362, 44547431], [44553861, 44553963], [44559737, 44559810], [44564481, 44568829]] [[44420219, 44420331], [44489807, 44489897], [44495932, 44496003], [44514917, 44515020], [44527366, 44527507], [44528773, 44528889], [44532339, 44532398], [44536003, 44536023], [44543740, 44543802], [44547362, 44547431], [44553861, 44553963], [44559737, 44559810], [44564481, 44564558]]
ENST00000402876 [[44420181, 44420331], [44489807, 44489897], [44495932, 44496003], [44514917, 44515020], [44515668, 44515814]] None
ENST00000444029 [[44427244, 44427387], [44435715, 44435837], [44489807, 44489897], [44495932, 44496003], [44514917, 44515020], [44527366, 44527507], [44528773, 44528845]] [[44435731, 44435837], [44489807, 44489897], [44495932, 44496003], [44514917, 44515020], [44527366, 44527507], [44528773, 44528845]]
ENST00000404989 [[44464940, 44465042], [44489807, 44489897], [44495932, 44496003], [44514917, 44515020], [44527366, 44527507], [44528773, 44528889], [44532339, 44532398], [44536003, 44536023], [44543740, 44543802], [44547362, 44547431], [44553861, 44553963], [44559737, 44559810], [44564481, 44565064]] [[44465041, 44465042], [44489807, 44489897], [44495932, 44496003], [44514917, 44515020], [44527366, 44527507], [44528773, 44528889], [44532339, 44532398], [44536003, 44536023], [44543740, 44543802], [44547362, 44547431], [44553861, 44553963], [44559737, 44559810], [44564481, 44564558]]
ENST00000477438 [[44564058, 44564153], [44564481, 44564807]] None
ENST00000477795 [[44482563, 44482891], [44485234, 44485419], [44489811, 44489897], [44495932, 44495969]] None
ENST00000495824 [[44532343, 44532398], [44534863, 44535004]] None
ENST00000484345 [[44558613, 44558731], [44559737, 44559810], [44563878, 44564123]] None
NM_001003828 [[44395090, 44395291], [44395413, 44395553], [44489807, 44489897], [44495932, 44496003], [44514917, 44515020], [44527366, 44527507], [44528773, 44528889], [44532339, 44532398], [44536003, 44536023], [44543740, 44543802], [44547362, 44547431], [44553861, 44553963], [44559737, 44559810], [44564481, 44565113]] [[44395220, 44395291], [44395413, 44395553], [44489807, 44489897], [44495932, 44496003], [44514917, 44515020], [44527366, 44527507], [44528773, 44528889], [44532339, 44532398], [44536003, 44536023], [44543740, 44543802], [44547362, 44547431], [44553861, 44553963], [44559737, 44559810], [44564481, 44564558]]
NM_013327 [[44420156, 44420331], [44489807, 44489897], [44495932, 44496003], [44514917, 44515020], [44527366, 44527507], [44528773, 44528889], [44532339, 44532398], [44536003, 44536023], [44543740, 44543802], [44547362, 44547431], [44553861, 44553963], [44559737, 44559810], [44564481, 44565113]] [[44420219, 44420331], [44489807, 44489897], [44495932, 44496003], [44514917, 44515020], [44527366, 44527507], [44528773, 44528889], [44532339, 44532398], [44536003, 44536023], [44543740, 44543802], [44547362, 44547431], [44553861, 44553963], [44559737, 44559810], [44564481, 44564558]]
NM_001243386 [[44422183, 44422256], [44489807, 44489897], [44495932, 44496003], [44514917, 44515020], [44527366, 44527507], [44528773, 44528889], [44532339, 44532398], [44536003, 44536023], [44543740, 44543802], [44553861, 44553963], [44559737, 44559810], [44564481, 44565113]] [[44489851, 44489897], [44495932, 44496003], [44514917, 44515020], [44527366, 44527507], [44528773, 44528889], [44532339, 44532398], [44536003, 44536023], [44543740, 44543802], [44553861, 44553963], [44559737, 44559810], [44564481, 44564558]]
NM_001243385 [[44464996, 44465042], [44489807, 44489897], [44495932, 44496003], [44514917, 44515020], [44527366, 44527507], [44528773, 44528889], [44532339, 44532398], [44536003, 44536023], [44543740, 44543802], [44547362, 44547431], [44553861, 44553963], [44559737, 44559810], [44564481, 44565113]] [[44465041, 44465042], [44489807, 44489897], [44495932, 44496003], [44514917, 44515020], [44527366, 44527507], [44528773, 44528889], [44532339, 44532398], [44536003, 44536023], [44543740, 44543802], [44547362, 44547431], [44553861, 44553963], [44559737, 44559810], [44564481, 44564558]]
Promoter
Chrom Start End Description
chr22 44419760 44419771 CAGE_peak_18_at_PARVB_5end
chr22 44419792 44419818 CAGE_peak_7_at_PARVB_5end
chr22 44419921 44419949 CAGE_peak_6_at_PARVB_5end
chr22 44420149 44420193 CAGE_peak_1_at_PARVB_5end
chr22 44420203 44420214 CAGE_peak_2_at_PARVB_5end
chr22 44421709 44421728 CAGE_peak_10_at_PARVB_5end
chr22 44421841 44421865 CAGE_peak_13_at_PARVB_5end
chr22 44426774 44426780 CAGE_peak_26_at_PARVB_5end
chr22 44426856 44426864 CAGE_peak_24_at_PARVB_5end
chr22 44427230 44427253 CAGE_peak_8_at_PARVB_5end
chr22 44427260 44427270 CAGE_peak_19_at_PARVB_5end
chr22 44464923 44464934 CAGE_peak_12_at_PARVB_5end
chr22 44464976 44464992 CAGE_peak_3_at_PARVB_5end
chr22 44482539 44482567 CAGE_peak_14_at_PARVB_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr22 GH22I044156 44156831 44157511 0.2 [{'connected_gene': 'SHISAL1', 'score': 10.96}, {'connected_gene': 'ENSG00000220702', 'score': 10.19}, {'connected_gene': 'PARVG', 'score': 6.35}, {'connected_gene': 'TRU-TCA2-1', 'score': 0.44}, {'connected_gene': 'PARVB', 'score': 0.1}]
chr22 GH22I044159 44159261 44159410 0.4 [{'connected_gene': 'TRU-TCA2-1', 'score': 0.44}, {'connected_gene': 'PARVG', 'score': 0.39}, {'connected_gene': 'PARVB', 'score': 0.1}]
chr22 GH22I044150 44150247 44151558 0.2 [{'connected_gene': 'TRU-TCA2-1', 'score': 550.77}, {'connected_gene': 'RPL35AP36', 'score': 10.45}, {'connected_gene': 'SAMM50', 'score': 10.45}, {'connected_gene': 'ENSG00000220702', 'score': 10.42}, {'connected_gene': 'ENSG00000280434', 'score': 0.39}, {'connected_gene': 'PARVG', 'score': 0.37}, {'connected_gene': 'PARVB', 'score': 0.1}]
chr22 GH22I044163 44163549 44164482 0.31 [{'connected_gene': 'PARVG', 'score': 0.44}, {'connected_gene': 'TRU-TCA2-1', 'score': 0.39}, {'connected_gene': 'PARVB', 'score': 0.1}]
chr22 GH22I044160 44160401 44161000 0.71 [{'connected_gene': 'PARVG', 'score': 0.44}, {'connected_gene': 'TRU-TCA2-1', 'score': 0.39}, {'connected_gene': 'PARVB', 'score': 0.1}]
chr22 GH22I044164 44164676 44166238 0.43 [{'connected_gene': 'PARVG', 'score': 5.87}, {'connected_gene': 'TRU-TCA2-1', 'score': 0.39}, {'connected_gene': 'PARVB', 'score': 0.1}]
chr22 GH22I044307 44307713 44310279 1.36 [{'connected_gene': 'PARVG', 'score': 2.25}, {'connected_gene': 'PARVB', 'score': 1.32}, {'connected_gene': 'LOC101927499', 'score': 0.77}, {'connected_gene': 'SHISAL1', 'score': 0.34}, {'connected_gene': 'PIR35275', 'score': 0.34}]
chr22 GH22I044129 44129401 44130001 0.76 [{'connected_gene': 'PARVG', 'score': 5.65}, {'connected_gene': 'ENSG00000280434', 'score': 0.44}, {'connected_gene': 'GC22P044108', 'score': 0.34}, {'connected_gene': 'PARVB', 'score': 0.12}]
chr22 GH22I044133 44133698 44134602 0.43 [{'connected_gene': 'PARVG', 'score': 5.92}, {'connected_gene': 'ENSG00000280434', 'score': 0.44}, {'connected_gene': 'GC22P044108', 'score': 0.31}, {'connected_gene': 'PARVB', 'score': 0.12}]
chr22 GH22I044171 44171545 44174600 1.45 [{'connected_gene': 'PARVG', 'score': 557.48}, {'connected_gene': 'SAMM50', 'score': 5.31}, {'connected_gene': 'ENSG00000279933', 'score': 0.39}, {'connected_gene': 'PARVB', 'score': 0.09}]
chr22 GH22I044067 44067311 44069600 1.85 [{'connected_gene': 'PARVB', 'score': 551.93}, {'connected_gene': 'GC22M044040', 'score': 0.31}, {'connected_gene': 'ENSG00000279175', 'score': 0.29}]
chr22 GH22I044075 44075103 44075162 0.5 [{'connected_gene': 'PARVB', 'score': 550.18}, {'connected_gene': 'ENSG00000279175', 'score': 0.31}, {'connected_gene': 'GC22M044040', 'score': 0.29}]
chr22 GH22I044049 44049301 44050250 0.6 [{'connected_gene': 'PARVB', 'score': 6.25}, {'connected_gene': 'GC22M044040', 'score': 0.44}, {'connected_gene': 'ENSG00000279175', 'score': 0.23}]
chr22 GH22I044029 44029937 44032736 1.02 [{'connected_gene': 'PARVB', 'score': 8.64}, {'connected_gene': 'GC22M044040', 'score': 0.44}]
chr22 GH22I044033 44033294 44034470 0.71 [{'connected_gene': 'PARVB', 'score': 6.95}, {'connected_gene': 'GC22M044040', 'score': 0.44}]
chr22 GH22I044023 44023591 44028324 2.13 [{'connected_gene': 'PARVB', 'score': 565.91}, {'connected_gene': 'GC22M044040', 'score': 0.37}]
chr22 GH22I044022 44022982 44023246 0.63 [{'connected_gene': 'PARVB', 'score': 5.73}, {'connected_gene': 'GC22M044040', 'score': 0.37}]
chr22 GH22I044081 44081281 44081570 0.86 [{'connected_gene': 'SAMM50', 'score': 11.55}, {'connected_gene': 'RPL35AP36', 'score': 10.54}, {'connected_gene': 'ENSG00000279175', 'score': 0.34}, {'connected_gene': 'GC22M044040', 'score': 0.26}, {'connected_gene': 'PARVB', 'score': 0.18}]
chr22 GH22I044154 44154484 44154710 0.94 [{'connected_gene': 'PHF21B', 'score': 11.17}, {'connected_gene': 'ENSG00000261251', 'score': 10.97}, {'connected_gene': 'PARVG', 'score': 10.73}, {'connected_gene': 'SAMM50', 'score': 9.99}, {'connected_gene': 'RPL35AP36', 'score': 9.99}, {'connected_gene': 'TRU-TCA2-1', 'score': 0.77}, {'connected_gene': 'PARVB', 'score': 0.1}]
chr22 GH22I044005 44005401 44005902 0.51 [{'connected_gene': 'RPL35AP36', 'score': 11.06}, {'connected_gene': 'SAMM50', 'score': 11.04}, {'connected_gene': 'PARVB', 'score': 0.44}, {'connected_gene': 'GC22M044040', 'score': 0.28}]
chr22 GH22I044158 44158370 44158650 0.51 [{'connected_gene': 'ENSG00000220702', 'score': 10.31}, {'connected_gene': 'TRU-TCA2-1', 'score': 0.44}, {'connected_gene': 'PARVG', 'score': 0.39}, {'connected_gene': 'PARVB', 'score': 0.1}]
chr22 GH22I044144 44143721 44143870 0.4 [{'connected_gene': 'ENSG00000220702', 'score': 10.27}, {'connected_gene': 'ENSG00000280434', 'score': 0.77}, {'connected_gene': 'TRU-TCA2-1', 'score': 0.44}, {'connected_gene': 'PARVB', 'score': 0.11}]
chr22 GH22I044143 44143221 44143370 0.4 [{'connected_gene': 'ENSG00000220702', 'score': 10.27}, {'connected_gene': 'ENSG00000280434', 'score': 0.77}, {'connected_gene': 'TRU-TCA2-1', 'score': 0.44}, {'connected_gene': 'PARVB', 'score': 0.11}]
chr22 GH22I044139 44139466 44141309 0.2 [{'connected_gene': 'ENSG00000280434', 'score': 550.77}, {'connected_gene': 'TRU-TCA2-1', 'score': 0.39}, {'connected_gene': 'PARVB', 'score': 0.11}]
chr22 GH22I044145 44145206 44149870 1.08 [{'connected_gene': 'ENSG00000220702', 'score': 10.27}, {'connected_gene': 'PARVG', 'score': 8.71}, {'connected_gene': 'TRU-TCA2-1', 'score': 0.77}, {'connected_gene': 'ENSG00000280434', 'score': 0.44}, {'connected_gene': 'PARVB', 'score': 0.11}]
chr22 GH22I043999 43999172 43999231 0.5 [{'connected_gene': 'PIR60090', 'score': 550.77}, {'connected_gene': 'PARVB', 'score': 550.77}, {'connected_gene': 'SAMM50', 'score': 0.26}]
chr22 GH22I044106 44106912 44108502 0.31 [{'connected_gene': 'GC22P044108', 'score': 550.77}, {'connected_gene': 'ENSG00000279175', 'score': 0.77}, {'connected_gene': 'PARVB', 'score': 0.14}]
chr22 GH22I044064 44064121 44064270 0.66 [{'connected_gene': 'GC22M044040', 'score': 0.34}, {'connected_gene': 'ENSG00000279175', 'score': 0.28}, {'connected_gene': 'PARVB', 'score': 0.21}]
chr22 GH22I044047 44046681 44046830 1.06 [{'connected_gene': 'GC22M044040', 'score': 0.44}, {'connected_gene': 'PARVB', 'score': 0.25}, {'connected_gene': 'ENSG00000279175', 'score': 0.22}]
chr22 GH22I044046 44046984 44048415 1.21 [{'connected_gene': 'GC22M044040', 'score': 0.44}, {'connected_gene': 'PARVB', 'score': 0.25}, {'connected_gene': 'ENSG00000279175', 'score': 0.22}]
chr22 GH22I044037 44037141 44038575 1.22 [{'connected_gene': 'GC22M044040', 'score': 0.77}, {'connected_gene': 'PARVB', 'score': 0.28}]
chr22 GH22I044044 44044001 44044113 0.65 [{'connected_gene': 'GC22M044040', 'score': 0.77}, {'connected_gene': 'PARVB', 'score': 0.26}, {'connected_gene': 'ENSG00000279175', 'score': 0.22}]
chr22 GH22I044138 44138885 44139425 0.31 [{'connected_gene': 'ENSG00000280434', 'score': 550.77}, {'connected_gene': 'GC22P044108', 'score': 0.29}, {'connected_gene': 'PARVB', 'score': 0.12}]
chr22 GH22I044088 44088757 44089410 0.2 [{'connected_gene': 'ENSG00000279175', 'score': 0.39}, {'connected_gene': 'GC22M044040', 'score': 0.25}, {'connected_gene': 'PARVB', 'score': 0.17}]
chr22 GH22I044028 44028993 44029303 0.4 [{'connected_gene': 'GC22M044040', 'score': 0.39}, {'connected_gene': 'PARVB', 'score': 0.31}]
chr22 GH22I044085 44085261 44088194 0.85 [{'connected_gene': 'ENSG00000279175', 'score': 0.37}, {'connected_gene': 'GC22M044040', 'score': 0.25}, {'connected_gene': 'PARVB', 'score': 0.17}]
chr22 GH22I044052 44052001 44052270 0.4 [{'connected_gene': 'GC22M044040', 'score': 0.39}, {'connected_gene': 'ENSG00000279175', 'score': 0.23}, {'connected_gene': 'PARVB', 'score': 0.23}]
chr22 GH22I044134 44133241 44133390 0.2 [{'connected_gene': 'ENSG00000280434', 'score': 0.44}, {'connected_gene': 'GC22P044108', 'score': 0.34}, {'connected_gene': 'PARVB', 'score': 0.12}]
chr22 GH22I044056 44056901 44058383 0.86 [{'connected_gene': 'GC22M044040', 'score': 0.37}, {'connected_gene': 'ENSG00000279175', 'score': 0.25}, {'connected_gene': 'PARVB', 'score': 0.22}]
chr22 GH22I044051 44051128 44051351 0.51 [{'connected_gene': 'GC22M044040', 'score': 0.44}, {'connected_gene': 'ENSG00000279175', 'score': 0.23}, {'connected_gene': 'PARVB', 'score': 0.23}]
chr22 GH22I044042 44042246 44042874 0.73 [{'connected_gene': 'GC22M044040', 'score': 550.77}, {'connected_gene': 'PARVB', 'score': 0.26}, {'connected_gene': 'ENSG00000279175', 'score': 0.21}]
chr22 GH22I044020 44020622 44022799 1.45 [{'connected_gene': 'ENSG00000261251', 'score': 37.63}, {'connected_gene': 'LOC100506679', 'score': 11.79}, {'connected_gene': 'SAMM50', 'score': 11.75}, {'connected_gene': 'RPL35AP36', 'score': 11.13}, {'connected_gene': 'RTL6', 'score': 11.1}, {'connected_gene': 'SHISAL1', 'score': 10.76}, {'connected_gene': 'PHF21B', 'score': 10.54}, {'connected_gene': 'TTLL1', 'score': 10.44}, {'connected_gene': 'PARVB', 'score': 8.81}, {'connected_gene': 'GC22M044040', 'score': 0.37}]

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