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
ENST00000510316 [[73923233, 73925817], [73930508, 73932187], [73936131, 73937249]] [[73930540, 73932091]]
ENST00000302351 [[73923233, 73925817], [73930508, 73932323], [73936131, 73937249]] [[73930540, 73932310]]
ENST00000509284 [[73925376, 73925817], [73927957, 73928087]] None
ENST00000537006 [[73925753, 73925817], [73930508, 73932323], [73936131, 73936254], [73936452, 73936474]] [[73930540, 73932310]]
ENST00000508331 [[73932161, 73932323], [73933318, 73933443], [73936131, 73937249]] [[73932161, 73932310]]
ENST00000509127 [[73932298, 73932323], [73933389, 73933526], [73936131, 73936553]] [[73932298, 73932310]]
NM_001256574 [[73923230, 73925817], [73930508, 73932323], [73933389, 73933526], [73936131, 73937249]] [[73930540, 73932310]]
NM_001256575 [[73923230, 73925817], [73930508, 73932323], [73933318, 73933443], [73936131, 73937249]] [[73930540, 73932310]]
NM_003633 [[73923230, 73925817], [73930508, 73932323], [73936131, 73937249]] [[73930540, 73932310]]
NM_001256576 [[73923230, 73925817], [73930508, 73932187], [73936131, 73937249]] [[73930540, 73932091]]
NR_046318 [[73923230, 73925817], [73936131, 73937249]] None
Promoter
Chrom Start End Description
chr5 73932103 73932116 CAGE_peak_24_at_ENC1_5end
chr5 73932119 73932130 CAGE_peak_26_at_ENC1_5end
chr5 73932548 73932552 CAGE_peak_17_at_ENC1_5end
chr5 73936195 73936201 CAGE_peak_19_at_ENC1_5end
chr5 73936230 73936235 CAGE_peak_11_at_ENC1_5end
chr5 73936268 73936275 CAGE_peak_12_at_ENC1_5end
chr5 73936309 73936444 CAGE_peak_2_at_ENC1_5end
chr5 73936451 73936478 CAGE_peak_4_at_ENC1_5end
chr5 73936481 73936505 CAGE_peak_3_at_ENC1_5end
chr5 73936544 73936561 CAGE_peak_1_at_ENC1_5end
chr5 73936575 73936600 CAGE_peak_5_at_ENC1_5end
chr5 73936611 73936621 CAGE_peak_13_at_ENC1_5end
chr5 73936672 73936695 CAGE_peak_6_at_ENC1_5end
chr5 73936738 73936762 CAGE_peak_8_at_ENC1_5end
chr5 73936891 73936919 CAGE_peak_20_at_ENC1_5end
chr5 73936971 73936987 CAGE_peak_21_at_ENC1_5end
chr5 73937062 73937074 CAGE_peak_18_at_ENC1_5end
chr5 73937077 73937094 CAGE_peak_10_at_ENC1_5end
chr5 73937244 73937274 CAGE_peak_7_at_ENC1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr5 GH05I074542 74542254 74545112 1.1 [{'connected_gene': 'ENC1', 'score': 7.96}, {'connected_gene': 'ANKRA2', 'score': 4.98}, {'connected_gene': 'LINC01331', 'score': 0.44}, {'connected_gene': 'HEXB', 'score': 0.15}]
chr5 GH05I074651 74651353 74652634 0.9 [{'connected_gene': 'ENC1', 'score': 27.78}, {'connected_gene': 'POLK', 'score': 5.42}, {'connected_gene': 'HEXB', 'score': 0.39}, {'connected_gene': 'RNU6-658P', 'score': 0.19}, {'connected_gene': 'GC05M074726', 'score': 0.19}]
chr5 GH05I074649 74649556 74649665 0.4 [{'connected_gene': 'ENC1', 'score': 26.05}, {'connected_gene': 'HEXB', 'score': 0.44}, {'connected_gene': 'RNU6-658P', 'score': 0.18}, {'connected_gene': 'GC05M074726', 'score': 0.18}]
chr5 GH05I074648 74648754 74649400 1.15 [{'connected_gene': 'ENC1', 'score': 24.35}, {'connected_gene': 'HEXB', 'score': 0.44}, {'connected_gene': 'RNU6-658P', 'score': 0.18}, {'connected_gene': 'GC05M074726', 'score': 0.18}]
chr5 GH05I074660 74660905 74661256 0.58 [{'connected_gene': 'ENC1', 'score': 0.37}, {'connected_gene': 'HEXB', 'score': 0.34}, {'connected_gene': 'RNU6-658P', 'score': 0.21}, {'connected_gene': 'GC05M074726', 'score': 0.21}]
chr5 GH05I074611 74611331 74612893 0.31 [{'connected_gene': 'ENC1', 'score': 34.14}, {'connected_gene': 'HEXB', 'score': 0.31}, {'connected_gene': 'LINC01331', 'score': 0.18}]
chr5 GH05I074621 74621899 74623259 0.74 [{'connected_gene': 'ENC1', 'score': 39.56}, {'connected_gene': 'HEXB', 'score': 0.37}, {'connected_gene': 'LINC01331', 'score': 0.17}]
chr5 GH05I074635 74635473 74644536 2.48 [{'connected_gene': 'ENC1', 'score': 586.69}, {'connected_gene': 'HEXB', 'score': 550.77}, {'connected_gene': 'RPS26P26', 'score': 12.44}, {'connected_gene': 'LINC01331', 'score': 0.15}]
chr5 GH05I074386 74386068 74387831 0.38 [{'connected_gene': 'ENC1', 'score': 4.52}, {'connected_gene': 'LINC01332', 'score': 0.23}, {'connected_gene': 'GC05M074433', 'score': 0.22}, {'connected_gene': 'LINC01331', 'score': 0.1}]
chr5 GH05I074143 74143752 74143965 0.61 [{'connected_gene': 'ENC1', 'score': 3.3}, {'connected_gene': 'LINC02122', 'score': 0.26}, {'connected_gene': 'LINC01335', 'score': 0.1}]
chr5 GH05I074555 74555075 74557465 0.49 [{'connected_gene': 'ENC1', 'score': 16.42}, {'connected_gene': 'LINC01331', 'score': 0.37}, {'connected_gene': 'HEXB', 'score': 0.18}]
chr5 GH05I074578 74578404 74582480 0.97 [{'connected_gene': 'ENC1', 'score': 6.44}, {'connected_gene': 'LINC01331', 'score': 0.26}, {'connected_gene': 'HEXB', 'score': 0.22}]
chr5 GH05I074575 74575197 74577838 1.01 [{'connected_gene': 'ENC1', 'score': 26.35}, {'connected_gene': 'LINC01331', 'score': 0.28}, {'connected_gene': 'HEXB', 'score': 0.21}]
chr5 GH05I074499 74499062 74503514 1.1 [{'connected_gene': 'ENC1', 'score': 15.3}, {'connected_gene': 'LINC01331', 'score': 0.28}, {'connected_gene': 'GC05P074447', 'score': 0.23}]
chr5 GH05I074491 74491312 74492543 0.46 [{'connected_gene': 'ENC1', 'score': 5.66}, {'connected_gene': 'GC05P074447', 'score': 0.26}, {'connected_gene': 'LINC01331', 'score': 0.25}]
chr5 GH05I074624 74624041 74634151 1.71 [{'connected_gene': 'ENC1', 'score': 39.66}, {'connected_gene': 'ENSG00000272040', 'score': 12.81}, {'connected_gene': 'RPS26P26', 'score': 11.51}, {'connected_gene': 'FAM169A', 'score': 2.11}, {'connected_gene': 'HEXB', 'score': 0.39}, {'connected_gene': 'LINC01331', 'score': 0.16}]
chr5 GH05I074676 74676737 74677765 0.43 [{'connected_gene': 'HEXB', 'score': 6.69}, {'connected_gene': 'ENC1', 'score': 0.28}, {'connected_gene': 'RNU6-658P', 'score': 0.25}, {'connected_gene': 'GC05M074726', 'score': 0.25}]
chr5 GH05I074682 74682985 74683811 0.31 [{'connected_gene': 'HEXB', 'score': 7.88}, {'connected_gene': 'RNU6-658P', 'score': 0.26}, {'connected_gene': 'GC05M074726', 'score': 0.26}, {'connected_gene': 'ENC1', 'score': 0.26}]
chr5 GH05I074684 74684243 74687892 2.23 [{'connected_gene': 'HEXB', 'score': 559.9}, {'connected_gene': 'ENSG00000272040', 'score': 12.78}, {'connected_gene': 'RNU6-658P', 'score': 11.07}, {'connected_gene': 'RNU6-1330P', 'score': 11.07}, {'connected_gene': 'FAM169A', 'score': 10.2}, {'connected_gene': 'GC05M074726', 'score': 0.28}, {'connected_gene': 'ENC1', 'score': 0.26}]
chr5 GH05I074669 74669864 74670254 0.33 [{'connected_gene': 'RNU6-658P', 'score': 10.37}, {'connected_gene': 'ENC1', 'score': 0.31}, {'connected_gene': 'HEXB', 'score': 0.29}, {'connected_gene': 'GC05M074726', 'score': 0.22}]
chr5 GH05I074724 74724813 74725180 0.25 [{'connected_gene': 'RNU6-658P', 'score': 550.77}, {'connected_gene': 'GC05M074726', 'score': 550.77}, {'connected_gene': 'GFM2', 'score': 0.26}, {'connected_gene': 'ENC1', 'score': 0.18}]
chr5 GH05I074537 74537533 74539065 1.1 [{'connected_gene': 'LINC01331', 'score': 550.77}, {'connected_gene': 'ENC1', 'score': 15.83}, {'connected_gene': 'ANKRA2', 'score': 5.27}, {'connected_gene': 'HEXB', 'score': 0.15}]
chr5 GH05I074672 74672985 74673813 0.87 [{'connected_gene': 'NSA2', 'score': 16.77}, {'connected_gene': 'RNU6-658P', 'score': 10.28}, {'connected_gene': 'HEXB', 'score': 6.19}, {'connected_gene': 'ENC1', 'score': 0.29}, {'connected_gene': 'GC05M074726', 'score': 0.23}]
chr5 GH05I074404 74404635 74410383 1.25 [{'connected_gene': 'LINC01333', 'score': 6.07}, {'connected_gene': 'BTF3', 'score': 5.98}, {'connected_gene': 'ENC1', 'score': 4.48}, {'connected_gene': 'GC05M074433', 'score': 0.28}, {'connected_gene': 'LINC01332', 'score': 0.19}, {'connected_gene': 'LINC01331', 'score': 0.13}]