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
ENST00000543491 [[30723044, 30726218], [30921774, 30921991], [31144094, 31144471]] [[30723044, 30726218], [30921774, 30921991], [31144094, 31144471]]
ENST00000511884 [[30723976, 30726218], [30921774, 30921967], [31144094, 31148422]] [[30723976, 30726218], [30921774, 30921967], [31144094, 31144471]]
ENST00000509925 [[30921774, 30921991], [30951741, 30951837], [30989199, 30989429]] None
ENST00000509759 [[30951770, 30951837], [31144094, 31144353]] None
ENST00000361762 [[30722036, 30726218], [30732374, 30733590]] [[30723044, 30726218], [30732374, 30732410]]
ENST00000507864 [[30724671, 30724855], [30726062, 30726218]] None
NM_032457 [[30722036, 30726218], [30921774, 30921967], [31144094, 31148423]] [[30723044, 30726218], [30921774, 30921967], [31144094, 31144471]]
NM_001173523 [[30722036, 30726218], [30921774, 30921991], [31144094, 31148423]] [[30723044, 30726218], [30921774, 30921991], [31144094, 31144471]]
NM_032456 [[30722029, 30726957]] [[30723044, 30726263]]
NM_002589 [[30722036, 30726218], [30732374, 30732838]] [[30723044, 30726218], [30732374, 30732410]]
Promoter
Chrom Start End Description
chr4 30721690 30721722 CAGE_peak_2_at_PCDH7_5end
chr4 30721968 30722034 CAGE_peak_1_at_PCDH7_5end
chr4 30722075 30722084 CAGE_peak_5_at_PCDH7_5end
chr4 30722217 30722226 CAGE_peak_4_at_PCDH7_5end
chr4 30723003 30723054 CAGE_peak_3_at_PCDH7_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I030923 30923830 30926097 0.2 [{'connected_gene': 'PCDH7', 'score': 6.96}, {'connected_gene': 'MTCYBP43', 'score': 0.28}, {'connected_gene': 'GC04P031150', 'score': 0.07}]
chr4 GH04I030927 30927989 30928660 0.2 [{'connected_gene': 'PCDH7', 'score': 6.49}, {'connected_gene': 'MTCYBP43', 'score': 0.26}, {'connected_gene': 'GC04P031150', 'score': 0.07}]
chr4 GH04I030903 30903695 30905731 0.66 [{'connected_gene': 'PCDH7', 'score': 5.54}, {'connected_gene': 'MTCYBP43', 'score': 0.37}, {'connected_gene': 'GC04P031150', 'score': 0.07}]
chr4 GH04I030969 30969747 30971935 0.31 [{'connected_gene': 'PCDH7', 'score': 4.92}, {'connected_gene': 'MTCYBP43', 'score': 0.17}, {'connected_gene': 'GC04P031150', 'score': 0.1}]
chr4 GH04I030936 30936400 30937182 0.2 [{'connected_gene': 'PCDH7', 'score': 6.97}, {'connected_gene': 'MTCYBP43', 'score': 0.23}, {'connected_gene': 'GC04P031150', 'score': 0.08}]
chr4 GH04I030968 30968669 30969616 0.2 [{'connected_gene': 'PCDH7', 'score': 7.31}, {'connected_gene': 'MTCYBP43', 'score': 0.18}, {'connected_gene': 'GC04P031150', 'score': 0.09}]
chr4 GH04I030959 30959818 30960919 0.38 [{'connected_gene': 'PCDH7', 'score': 5.23}, {'connected_gene': 'MTCYBP43', 'score': 0.18}, {'connected_gene': 'GC04P031150', 'score': 0.09}]
chr4 GH04I030949 30949695 30953641 1.07 [{'connected_gene': 'PCDH7', 'score': 4.94}, {'connected_gene': 'MTCYBP43', 'score': 0.2}, {'connected_gene': 'GC04P031150', 'score': 0.08}]
chr4 GH04I030935 30935228 30936212 0.31 [{'connected_gene': 'PCDH7', 'score': 6.97}, {'connected_gene': 'MTCYBP43', 'score': 0.23}, {'connected_gene': 'GC04P031150', 'score': 0.08}]
chr4 GH04I030932 30932138 30934443 0.2 [{'connected_gene': 'PCDH7', 'score': 6.96}, {'connected_gene': 'MTCYBP43', 'score': 0.25}, {'connected_gene': 'GC04P031150', 'score': 0.08}]
chr4 GH04I030889 30889500 30890397 0.2 [{'connected_gene': 'PCDH7', 'score': 5.57}, {'connected_gene': 'MTCYBP43', 'score': 0.77}, {'connected_gene': 'GC04P031150', 'score': 0.07}]
chr4 GH04I030917 30917696 30921272 0.56 [{'connected_gene': 'PCDH7', 'score': 6.73}, {'connected_gene': 'MTCYBP43', 'score': 0.29}, {'connected_gene': 'GC04P031150', 'score': 0.07}]
chr4 GH04I030964 30964347 30965144 0.2 [{'connected_gene': 'PCDH7', 'score': 5.22}, {'connected_gene': 'MTCYBP43', 'score': 0.18}, {'connected_gene': 'GC04P031150', 'score': 0.09}]
chr4 GH04I030922 30922348 30923561 0.38 [{'connected_gene': 'PCDH7', 'score': 6.96}, {'connected_gene': 'MTCYBP43', 'score': 0.28}, {'connected_gene': 'GC04P031150', 'score': 0.07}]
chr4 GH04I030962 30962939 30963188 0.93 [{'connected_gene': 'PCDH7', 'score': 5.22}, {'connected_gene': 'MTCYBP43', 'score': 0.18}, {'connected_gene': 'GC04P031150', 'score': 0.09}]
chr4 GH04I030972 30972301 30974034 0.52 [{'connected_gene': 'PCDH7', 'score': 7.63}, {'connected_gene': 'MTCYBP43', 'score': 0.17}, {'connected_gene': 'GC04P031150', 'score': 0.1}]
chr4 GH04I030900 30900925 30902923 0.76 [{'connected_gene': 'PCDH7', 'score': 4.86}, {'connected_gene': 'MTCYBP43', 'score': 0.37}, {'connected_gene': 'GC04P031150', 'score': 0.07}]
chr4 GH04I030955 30955545 30958413 0.46 [{'connected_gene': 'PCDH7', 'score': 5.13}, {'connected_gene': 'MTCYBP43', 'score': 0.19}, {'connected_gene': 'GC04P031150', 'score': 0.08}]
chr4 GH04I030929 30929779 30929928 0.4 [{'connected_gene': 'PCDH7', 'score': 7.01}, {'connected_gene': 'MTCYBP43', 'score': 0.26}, {'connected_gene': 'GC04P031150', 'score': 0.07}]
chr4 GH04I030926 30926133 30927519 0.2 [{'connected_gene': 'PCDH7', 'score': 6.99}, {'connected_gene': 'MTCYBP43', 'score': 0.26}, {'connected_gene': 'GC04P031150', 'score': 0.07}]
chr4 GH04I030723 30723790 30724675 0.66 [{'connected_gene': 'PCDH7', 'score': 0.77}, {'connected_gene': 'GC04P030728', 'score': 0.77}, {'connected_gene': 'GC04M030717', 'score': 0.22}]
chr4 GH04I030752 30752088 30754834 0.74 [{'connected_gene': 'PCDH7', 'score': 12.6}, {'connected_gene': 'ENSG00000249678', 'score': 11.66}, {'connected_gene': 'GC04P030728', 'score': 0.31}, {'connected_gene': 'GC04M030717', 'score': 0.31}]
chr4 GH04I030741 30741177 30743011 0.31 [{'connected_gene': 'PCDH7', 'score': 12.05}, {'connected_gene': 'GC04P030728', 'score': 0.39}, {'connected_gene': 'GC04M030717', 'score': 0.28}]
chr4 GH04I030749 30749952 30751659 0.2 [{'connected_gene': 'PCDH7', 'score': 12.6}, {'connected_gene': 'GC04P030728', 'score': 0.34}, {'connected_gene': 'GC04M030717', 'score': 0.31}]
chr4 GH04I030747 30747195 30748984 0.2 [{'connected_gene': 'PCDH7', 'score': 12.61}, {'connected_gene': 'GC04P030728', 'score': 0.37}, {'connected_gene': 'GC04M030717', 'score': 0.29}]
chr4 GH04I030743 30743252 30747117 0.49 [{'connected_gene': 'PCDH7', 'score': 12.64}, {'connected_gene': 'GC04P030728', 'score': 0.37}, {'connected_gene': 'GC04M030717', 'score': 0.29}]
chr4 GH04I030755 30755171 30758761 1.06 [{'connected_gene': 'PCDH7', 'score': 11.54}, {'connected_gene': 'ENSG00000249678', 'score': 11.12}, {'connected_gene': 'GC04M030717', 'score': 0.34}, {'connected_gene': 'GC04P030728', 'score': 0.31}]
chr4 GH04I030716 30716184 30723392 2.38 [{'connected_gene': 'PCDH7', 'score': 554.33}, {'connected_gene': 'ENSG00000249678', 'score': 10.72}, {'connected_gene': 'GC04P030681', 'score': 0.28}, {'connected_gene': 'GC04M030717', 'score': 0.21}]
chr4 GH04I030724 30724802 30724999 0.2 [{'connected_gene': 'PCDH7', 'score': 0.77}, {'connected_gene': 'GC04P030728', 'score': 0.77}, {'connected_gene': 'GC04M030717', 'score': 0.23}]
chr4 GH04I030874 30874659 30884829 0.81 [{'connected_gene': 'MTCYBP43', 'score': 0.44}, {'connected_gene': 'ENSG00000249678', 'score': 0.17}, {'connected_gene': 'PCDH7', 'score': 0.1}]
chr4 GH04I030869 30869862 30873516 0.38 [{'connected_gene': 'MTCYBP43', 'score': 0.39}, {'connected_gene': 'ENSG00000249678', 'score': 0.18}, {'connected_gene': 'PCDH7', 'score': 0.1}]
chr4 GH04I030942 30942216 30945071 0.46 [{'connected_gene': 'MTCYBP43', 'score': 0.22}, {'connected_gene': 'GC04P031150', 'score': 0.08}, {'connected_gene': 'PCDH7', 'score': 0.07}]
chr4 GH04I030866 30866360 30867771 0.66 [{'connected_gene': 'MTCYBP43', 'score': 0.37}, {'connected_gene': 'ENSG00000249678', 'score': 0.19}, {'connected_gene': 'PCDH7', 'score': 0.11}]
chr4 GH04I030941 30941186 30942160 0.31 [{'connected_gene': 'MTCYBP43', 'score': 0.22}, {'connected_gene': 'GC04P031150', 'score': 0.08}, {'connected_gene': 'PCDH7', 'score': 0.07}]
chr4 GH04I030938 30938013 30940132 0.8 [{'connected_gene': 'MTCYBP43', 'score': 0.23}, {'connected_gene': 'PCDH7', 'score': 0.08}, {'connected_gene': 'GC04P031150', 'score': 0.08}]
chr4 GH04I030977 30977261 30978072 0.2 [{'connected_gene': 'MTCYBP43', 'score': 0.16}, {'connected_gene': 'GC04P031150', 'score': 0.09}, {'connected_gene': 'PCDH7', 'score': 0.07}]
chr4 GH04I030839 30839358 30841102 1.02 [{'connected_gene': 'MTCYBP43', 'score': 0.26}, {'connected_gene': 'ENSG00000249678', 'score': 0.25}, {'connected_gene': 'PCDH7', 'score': 0.13}]
chr4 GH04I030846 30846759 30847600 0.58 [{'connected_gene': 'MTCYBP43', 'score': 0.28}, {'connected_gene': 'ENSG00000249678', 'score': 0.23}, {'connected_gene': 'PCDH7', 'score': 0.13}]
chr4 GH04I030940 30940491 30941110 0.2 [{'connected_gene': 'MTCYBP43', 'score': 0.22}, {'connected_gene': 'GC04P031150', 'score': 0.08}, {'connected_gene': 'PCDH7', 'score': 0.07}]
chr4 GH04I030895 30895329 30896484 0.2 [{'connected_gene': 'MTCYBP43', 'score': 0.39}, {'connected_gene': 'PCDH7', 'score': 0.1}, {'connected_gene': 'GC04P031150', 'score': 0.07}]
chr4 GH04I031012 31012727 31013299 0.2 [{'connected_gene': 'MTCYBP43', 'score': 0.13}, {'connected_gene': 'GC04P031150', 'score': 0.12}, {'connected_gene': 'PCDH7', 'score': 0.06}]
chr4 GH04I030945 30945179 30946152 0.92 [{'connected_gene': 'MTCYBP43', 'score': 0.21}, {'connected_gene': 'GC04P031150', 'score': 0.08}, {'connected_gene': 'PCDH7', 'score': 0.07}]
chr4 GH04I030948 30948199 30949383 0.9 [{'connected_gene': 'MTCYBP43', 'score': 0.21}, {'connected_gene': 'GC04P031150', 'score': 0.08}, {'connected_gene': 'PCDH7', 'score': 0.07}]
chr4 GH04I030862 30862619 30863543 0.58 [{'connected_gene': 'MTCYBP43', 'score': 0.34}, {'connected_gene': 'ENSG00000249678', 'score': 0.2}, {'connected_gene': 'PCDH7', 'score': 0.11}]
chr4 GH04I030893 30893214 30894593 0.2 [{'connected_gene': 'MTCYBP43', 'score': 0.44}, {'connected_gene': 'PCDH7', 'score': 0.09}, {'connected_gene': 'GC04P031150', 'score': 0.07}]
chr4 GH04I030974 30974476 30976135 0.2 [{'connected_gene': 'MTCYBP43', 'score': 0.16}, {'connected_gene': 'GC04P031150', 'score': 0.1}, {'connected_gene': 'PCDH7', 'score': 0.07}]
chr4 GH04I030854 30854105 30855366 0.51 [{'connected_gene': 'MTCYBP43', 'score': 0.29}, {'connected_gene': 'ENSG00000249678', 'score': 0.21}, {'connected_gene': 'PCDH7', 'score': 0.12}]
chr4 GH04I031022 31022558 31023502 0.63 [{'connected_gene': 'LINC02506', 'score': 4.5}, {'connected_gene': 'GC04P031150', 'score': 0.13}, {'connected_gene': 'MTCYBP43', 'score': 0.12}, {'connected_gene': 'PCDH7', 'score': 0.06}]
chr4 GH04I030913 30913316 30917355 0.52 [{'connected_gene': 'ENSG00000249678', 'score': 10.66}, {'connected_gene': 'PCDH7', 'score': 6.49}, {'connected_gene': 'MTCYBP43', 'score': 0.29}, {'connected_gene': 'GC04P031150', 'score': 0.07}]
chr4 GH04I030830 30830368 30834830 0.43 [{'connected_gene': 'ENSG00000249678', 'score': 11.72}, {'connected_gene': 'PCDH7', 'score': 7.12}, {'connected_gene': 'MTCYBP43', 'score': 0.23}]
chr4 GH04I030910 30910856 30913044 0.57 [{'connected_gene': 'ENSG00000249678', 'score': 10.66}, {'connected_gene': 'PCDH7', 'score': 5.68}, {'connected_gene': 'MTCYBP43', 'score': 0.31}, {'connected_gene': 'GC04P031150', 'score': 0.07}]
chr4 GH04I030767 30767166 30771667 0.98 [{'connected_gene': 'GC04M030717', 'score': 0.39}, {'connected_gene': 'GC04P030728', 'score': 0.26}, {'connected_gene': 'PCDH7', 'score': 0.25}]
chr4 GH04I030782 30782299 30784586 0.31 [{'connected_gene': 'GC04M030717', 'score': 0.77}, {'connected_gene': 'ENSG00000249678', 'score': 0.39}, {'connected_gene': 'PCDH7', 'score': 0.21}]
chr4 GH04I030725 30725402 30727897 0.8 [{'connected_gene': 'GC04P030728', 'score': 550.77}, {'connected_gene': 'PCDH7', 'score': 0.44}, {'connected_gene': 'GC04M030717', 'score': 0.23}]
chr4 GH04I030780 30780626 30782147 0.31 [{'connected_gene': 'GC04M030717', 'score': 550.77}, {'connected_gene': 'ENSG00000249678', 'score': 0.39}, {'connected_gene': 'PCDH7', 'score': 0.21}]
chr4 GH04I030762 30762737 30764366 0.92 [{'connected_gene': 'GC04M030717', 'score': 0.37}, {'connected_gene': 'GC04P030728', 'score': 0.28}, {'connected_gene': 'PCDH7', 'score': 0.26}]
chr4 GH04I030788 30788859 30790113 0.94 [{'connected_gene': 'ENSG00000249678', 'score': 0.77}, {'connected_gene': 'GC04M030717', 'score': 0.44}, {'connected_gene': 'PCDH7', 'score': 0.2}]
chr4 GH04I031046 31046883 31048137 0.2 [{'connected_gene': 'GC04P031150', 'score': 0.15}, {'connected_gene': 'MTCYBP43', 'score': 0.1}, {'connected_gene': 'PCDH7', 'score': 0.05}]
chr4 GH04I031077 31077576 31078877 0.2 [{'connected_gene': 'GC04P031150', 'score': 0.19}, {'connected_gene': 'MTCYBP43', 'score': 0.08}, {'connected_gene': 'PCDH7', 'score': 0.05}]
chr4 GH04I030814 30814236 30816343 0.31 [{'connected_gene': 'ENSG00000249678', 'score': 11.98}, {'connected_gene': 'MTCYBP43', 'score': 0.2}, {'connected_gene': 'PCDH7', 'score': 0.16}]
chr4 GH04I031052 31052659 31052808 0.4 [{'connected_gene': 'GC04P031150', 'score': 0.15}, {'connected_gene': 'MTCYBP43', 'score': 0.1}, {'connected_gene': 'PCDH7', 'score': 0.06}]
chr4 GH04I031105 31105343 31105904 0.2 [{'connected_gene': 'GC04P031150', 'score': 0.26}, {'connected_gene': 'MTCYBP43', 'score': 0.07}, {'connected_gene': 'PCDH7', 'score': 0.05}]
chr4 GH04I031106 31106499 31106648 0.4 [{'connected_gene': 'GC04P031150', 'score': 0.26}, {'connected_gene': 'MTCYBP43', 'score': 0.07}, {'connected_gene': 'PCDH7', 'score': 0.05}]
chr4 GH04I031015 31015913 31017547 0.38 [{'connected_gene': 'GC04P031150', 'score': 0.12}, {'connected_gene': 'MTCYBP43', 'score': 0.12}, {'connected_gene': 'PCDH7', 'score': 0.06}]
chr4 GH04I030810 30810513 30814124 0.31 [{'connected_gene': 'ENSG00000249678', 'score': 0.37}, {'connected_gene': 'MTCYBP43', 'score': 0.19}, {'connected_gene': 'PCDH7', 'score': 0.16}]
chr4 GH04I031033 31033155 31038579 0.52 [{'connected_gene': 'GC04P031150', 'score': 0.14}, {'connected_gene': 'MTCYBP43', 'score': 0.1}, {'connected_gene': 'PCDH7', 'score': 0.06}]
chr4 GH04I031068 31068420 31069449 0.51 [{'connected_gene': 'GC04P031150', 'score': 0.18}, {'connected_gene': 'MTCYBP43', 'score': 0.09}, {'connected_gene': 'PCDH7', 'score': 0.05}]
chr4 GH04I031030 31030870 31031670 0.2 [{'connected_gene': 'GC04P031150', 'score': 0.13}, {'connected_gene': 'MTCYBP43', 'score': 0.11}, {'connected_gene': 'PCDH7', 'score': 0.06}]
chr4 GH04I031108 31108403 31109399 0.31 [{'connected_gene': 'GC04P031150', 'score': 0.26}, {'connected_gene': 'MTCYBP43', 'score': 0.07}, {'connected_gene': 'PCDH7', 'score': 0.05}]
chr4 GH04I031104 31104739 31104888 0.4 [{'connected_gene': 'GC04P031150', 'score': 0.25}, {'connected_gene': 'MTCYBP43', 'score': 0.08}, {'connected_gene': 'PCDH7', 'score': 0.05}]
chr4 GH04I031055 31055312 31062997 0.52 [{'connected_gene': 'GC04P031150', 'score': 0.16}, {'connected_gene': 'MTCYBP43', 'score': 0.09}, {'connected_gene': 'PCDH7', 'score': 0.05}]
chr4 GH04I031099 31099863 31100809 0.2 [{'connected_gene': 'GC04P031150', 'score': 0.25}, {'connected_gene': 'MTCYBP43', 'score': 0.08}, {'connected_gene': 'PCDH7', 'score': 0.05}]
chr4 GH04I031085 31085379 31086401 0.69 [{'connected_gene': 'GC04P031150', 'score': 0.21}, {'connected_gene': 'MTCYBP43', 'score': 0.08}, {'connected_gene': 'PCDH7', 'score': 0.05}]
chr4 GH04I031088 31088109 31090180 1.1 [{'connected_gene': 'GC04P031150', 'score': 0.21}, {'connected_gene': 'MTCYBP43', 'score': 0.08}, {'connected_gene': 'PCDH7', 'score': 0.05}]
chr4 GH04I031054 31053884 31054984 0.2 [{'connected_gene': 'GC04P031150', 'score': 0.15}, {'connected_gene': 'MTCYBP43', 'score': 0.1}, {'connected_gene': 'PCDH7', 'score': 0.06}]
chr4 GH04I031070 31070754 31072102 0.31 [{'connected_gene': 'GC04P031150', 'score': 0.18}, {'connected_gene': 'MTCYBP43', 'score': 0.09}, {'connected_gene': 'PCDH7', 'score': 0.05}]
chr4 GH04I030821 30821343 30822641 0.83 [{'connected_gene': 'ENSG00000249678', 'score': 11.83}, {'connected_gene': 'MTCYBP43', 'score': 0.21}, {'connected_gene': 'PCDH7', 'score': 0.15}]
chr4 GH04I031098 31098396 31099714 0.2 [{'connected_gene': 'GC04P031150', 'score': 0.23}, {'connected_gene': 'MTCYBP43', 'score': 0.08}, {'connected_gene': 'PCDH7', 'score': 0.05}]
chr4 GH04I031028 31028814 31030662 0.31 [{'connected_gene': 'GC04P031150', 'score': 0.13}, {'connected_gene': 'MTCYBP43', 'score': 0.11}, {'connected_gene': 'PCDH7', 'score': 0.06}]
chr4 GH04I030801 30801631 30803681 0.63 [{'connected_gene': 'ENSG00000249678', 'score': 0.44}, {'connected_gene': 'MTCYBP43', 'score': 0.18}, {'connected_gene': 'PCDH7', 'score': 0.18}]
chr4 GH04I031038 31038875 31044590 0.52 [{'connected_gene': 'GC04P031150', 'score': 0.14}, {'connected_gene': 'MTCYBP43', 'score': 0.1}, {'connected_gene': 'PCDH7', 'score': 0.05}]
chr4 GH04I030837 30837299 30837468 1 [{'connected_gene': 'ENSG00000249678', 'score': 11.7}, {'connected_gene': 'MTCYBP43', 'score': 0.25}, {'connected_gene': 'PCDH7', 'score': 0.13}]
chr4 GH04I031094 31094080 31097628 0.31 [{'connected_gene': 'GC04P031150', 'score': 0.23}, {'connected_gene': 'MTCYBP43', 'score': 0.08}, {'connected_gene': 'PCDH7', 'score': 0.05}]
chr4 GH04I031044 31044677 31046571 0.43 [{'connected_gene': 'GC04P031150', 'score': 0.15}, {'connected_gene': 'MTCYBP43', 'score': 0.1}, {'connected_gene': 'PCDH7', 'score': 0.05}]
chr4 GH04I031053 31052879 31053028 0.4 [{'connected_gene': 'GC04P031150', 'score': 0.15}, {'connected_gene': 'MTCYBP43', 'score': 0.1}, {'connected_gene': 'PCDH7', 'score': 0.06}]

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