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
ENST00000422871 [[44568835, 44569071], [44577621, 44577797], [44579197, 44579288], [44581687, 44581752], [44583655, 44583758], [44584993, 44585134], [44586430, 44586546], [44587928, 44587984], [44589680, 44589703], [44592034, 44592093], [44592226, 44592295], [44594500, 44594602], [44601636, 44601709], [44602196, 44603034]] [[44579209, 44579288], [44581687, 44581752], [44583655, 44583758], [44584993, 44585134], [44586430, 44586546], [44587928, 44587984], [44589680, 44589703], [44592034, 44592093], [44592226, 44592295], [44594500, 44594602], [44601636, 44601709], [44602196, 44602306]]
ENST00000453888 [[44568863, 44569071], [44579197, 44579288], [44581687, 44581752], [44582456, 44583052]] None
ENST00000444313 [[44576769, 44577065], [44577621, 44577797], [44579197, 44579288], [44581687, 44581752], [44583655, 44583758], [44584993, 44585134], [44586430, 44586546], [44587928, 44587984], [44589680, 44589703], [44592034, 44592093], [44592226, 44592295], [44594500, 44594602], [44601636, 44601709], [44602196, 44604349]] [[44579209, 44579288], [44581687, 44581752], [44583655, 44583758], [44584993, 44585134], [44586430, 44586546], [44587928, 44587984], [44589680, 44589703], [44592034, 44592093], [44592226, 44592295], [44594500, 44594602], [44601636, 44601709], [44602196, 44602306]]
ENST00000416291 [[44576901, 44577065], [44577743, 44577797], [44579197, 44579288]] [[44579209, 44579288]]
ENST00000475485 [[44577215, 44577250], [44577621, 44577797], [44579197, 44579288], [44581687, 44581752], [44582456, 44583758], [44584993, 44585134], [44586430, 44586546], [44587928, 44588009], [44592036, 44592093], [44592226, 44592295], [44594500, 44594602], [44601636, 44601709], [44602196, 44602502]] None
ENST00000415224 [[44577256, 44577311], [44577621, 44577797], [44579197, 44579288], [44581687, 44581752], [44583655, 44583758], [44584993, 44585134], [44586430, 44586546], [44587928, 44587984], [44589680, 44589703], [44592034, 44592093], [44592226, 44592295], [44594500, 44594602], [44601636, 44601709], [44602196, 44603034]] [[44579209, 44579288], [44581687, 44581752], [44583655, 44583758], [44584993, 44585134], [44586430, 44586546], [44587928, 44587984], [44589680, 44589703], [44592034, 44592093], [44592226, 44592295], [44594500, 44594602], [44601636, 44601709], [44602196, 44602306]]
ENST00000417767 [[44577277, 44577797], [44579197, 44579299]] [[44579209, 44579299]]
ENST00000356909 [[44577279, 44577311], [44577621, 44577797], [44579197, 44579288], [44581687, 44581752], [44583655, 44583758], [44584993, 44585134], [44586430, 44586546], [44587928, 44588009], [44592036, 44592093], [44592226, 44592295], [44594500, 44594602], [44601636, 44601709], [44602196, 44602515]] [[44579209, 44579288], [44581687, 44581752], [44583655, 44583758], [44584993, 44585134], [44586430, 44586546], [44587928, 44587988]]
ENST00000471836 [[44577629, 44577797], [44579197, 44579288], [44581687, 44581994]] None
ENST00000466375 [[44577740, 44577797], [44579197, 44579288], [44579469, 44580141]] [[44579209, 44579288], [44579469, 44579495]]
ENST00000468564 [[44581405, 44585134], [44586430, 44586546], [44587928, 44588009], [44592036, 44592093], [44592226, 44592295], [44594500, 44594602], [44601636, 44601709], [44602196, 44603035]] None
ENST00000472551 [[44591977, 44592093], [44594500, 44594602], [44614370, 44614653], [44615363, 44615413]] None
NM_001137605 [[44568835, 44569071], [44577621, 44577797], [44579197, 44579288], [44581687, 44581752], [44583655, 44583758], [44584993, 44585134], [44586430, 44586546], [44587928, 44587984], [44589680, 44589703], [44592034, 44592093], [44592226, 44592295], [44594500, 44594602], [44601636, 44601709], [44602196, 44604349]] [[44579209, 44579288], [44581687, 44581752], [44583655, 44583758], [44584993, 44585134], [44586430, 44586546], [44587928, 44587984], [44589680, 44589703], [44592034, 44592093], [44592226, 44592295], [44594500, 44594602], [44601636, 44601709], [44602196, 44602306]]
NM_022141 [[44576769, 44577065], [44577621, 44577797], [44579197, 44579288], [44581687, 44581752], [44583655, 44583758], [44584993, 44585134], [44586430, 44586546], [44587928, 44587984], [44589680, 44589703], [44592034, 44592093], [44592226, 44592295], [44594500, 44594602], [44601636, 44601709], [44602196, 44604349]] [[44579209, 44579288], [44581687, 44581752], [44583655, 44583758], [44584993, 44585134], [44586430, 44586546], [44587928, 44587984], [44589680, 44589703], [44592034, 44592093], [44592226, 44592295], [44594500, 44594602], [44601636, 44601709], [44602196, 44602306]]
Promoter
Chrom Start End Description
chr22 44568774 44568807 CAGE_peak_10_at_PARVG_5end
chr22 44568825 44568837 CAGE_peak_12_at_PARVG_5end
chr22 44568847 44568879 CAGE_peak_7_at_PARVG_5end
chr22 44569007 44569025 CAGE_peak_8_at_PARVG_5end
chr22 44569031 44569036 CAGE_peak_27_at_PARVG_5end
chr22 44576794 44576850 CAGE_peak_4_at_PARVG_5end
chr22 44577171 44577177 CAGE_peak_18_at_PARVG_5end
chr22 44577180 44577195 CAGE_peak_6_at_PARVG_5end
chr22 44577210 44577236 CAGE_peak_2_at_PARVG_5end
chr22 44577237 44577262 CAGE_peak_3_at_PARVG_5end
chr22 44577325 44577356 CAGE_peak_11_at_PARVG_5end
chr22 44577612 44577668 CAGE_peak_1_at_PARVG_5end
chr22 44577702 44577713 CAGE_peak_9_at_PARVG_5end
chr22 44577724 44577739 CAGE_peak_5_at_PARVG_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 GH22I044448 44448070 44450514 1.43 [{'connected_gene': 'RTL6', 'score': 10.59}, {'connected_gene': 'PARVG', 'score': 1.79}, {'connected_gene': 'GC22P044453', 'score': 0.77}, {'connected_gene': 'LINC01656', 'score': 0.44}]
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 GH22I044325 44325601 44327132 0.78 [{'connected_gene': 'PARVG', 'score': 4.79}, {'connected_gene': 'SHISAL1', 'score': 0.44}, {'connected_gene': 'LOC101927499', 'score': 0.39}]
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 GH22I044619 44619641 44621326 1.47 [{'connected_gene': 'PARVG', 'score': 11.88}, {'connected_gene': 'PRR5', 'score': 5.55}, {'connected_gene': 'LINC00229', 'score': 0.77}, {'connected_gene': 'LOC105373060', 'score': 0.77}, {'connected_gene': 'LINC00207', 'score': 0.23}]
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 GH22I044179 44179898 44183577 1.8 [{'connected_gene': 'PARVG', 'score': 558.06}, {'connected_gene': 'SAMM50', 'score': 5.28}, {'connected_gene': 'ENSG00000279933', 'score': 0.44}]
chr22 GH22I044541 44541038 44541241 0.48 [{'connected_gene': 'PARVG', 'score': 2.1}, {'connected_gene': 'LOC105373059', 'score': 0.44}, {'connected_gene': 'GC22P044519', 'score': 0.34}]
chr22 GH22I044211 44211794 44212910 0.31 [{'connected_gene': 'PARVG', 'score': 7.04}, {'connected_gene': 'ENSG00000280011', 'score': 0.37}, {'connected_gene': 'GC22P044189', 'score': 0.34}]
chr22 GH22I044671 44671236 44672408 1.02 [{'connected_gene': 'PRR5', 'score': 9.75}, {'connected_gene': 'PARVG', 'score': 1.64}, {'connected_gene': 'NUP50', 'score': 1.48}, {'connected_gene': 'PRR5-ARHGAP8', 'score': 0.29}]
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 GH22I044550 44550456 44552422 1.04 [{'connected_gene': 'LOC105373059', 'score': 550.77}, {'connected_gene': 'RTL6', 'score': 11.67}, {'connected_gene': 'ENSG00000220702', 'score': 10.5}, {'connected_gene': 'SHISAL1', 'score': 10.44}, {'connected_gene': 'PARVG', 'score': 4.27}, {'connected_gene': 'GC22M044550', 'score': 0.77}]
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 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 GH22I044192 44192401 44192650 0.6 [{'connected_gene': 'GC22P044189', 'score': 0.77}, {'connected_gene': 'PARVG', 'score': 0.34}, {'connected_gene': 'ENSG00000280011', 'score': 0.28}]
chr22 GH22I044202 44202049 44202994 0.66 [{'connected_gene': 'GC22P044189', 'score': 0.39}, {'connected_gene': 'ENSG00000280011', 'score': 0.31}, {'connected_gene': 'PARVG', 'score': 0.29}]
chr22 GH22I044190 44190842 44191730 0.6 [{'connected_gene': 'GC22P044189', 'score': 550.77}, {'connected_gene': 'PARVG', 'score': 0.34}, {'connected_gene': 'ENSG00000280011', 'score': 0.28}]

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