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
ENST00000451207 [[158297740, 158298047], [158298710, 158298804], [158299324, 158299438], [158299641, 158299920], [158300585, 158300815]] [[158298025, 158298047], [158298710, 158298804], [158299324, 158299438], [158299641, 158299920], [158300585, 158300815]]
ENST00000368168 [[158297740, 158298047], [158298710, 158298804], [158299159, 158299438], [158299641, 158299920], [158300585, 158300852], [158301152, 158301321]] [[158298025, 158298047], [158298710, 158298804], [158299159, 158299438], [158299641, 158299920], [158300585, 158300852], [158301152, 158301213]]
NM_001764 [[158297739, 158298047], [158298710, 158298804], [158299159, 158299438], [158299641, 158299920], [158300585, 158300852], [158301152, 158301321]] [[158298025, 158298047], [158298710, 158298804], [158299159, 158299438], [158299641, 158299920], [158300585, 158300852], [158301152, 158301213]]
Promoter
Chrom Start End Description
chr1 158300679 158300696 CAGE_peak_5_at_CD1B_5end
chr1 158300710 158300726 CAGE_peak_4_at_CD1B_5end
chr1 158300747 158300758 CAGE_peak_12_at_CD1B_5end
chr1 158300919 158300933 CAGE_peak_11_at_CD1B_5end
chr1 158300950 158300997 CAGE_peak_3_at_CD1B_5end
chr1 158301000 158301009 CAGE_peak_14_at_CD1B_5end
chr1 158301019 158301040 CAGE_peak_7_at_CD1B_5end
chr1 158301070 158301081 CAGE_peak_10_at_CD1B_5end
chr1 158301177 158301192 CAGE_peak_9_at_CD1B_5end
chr1 158301222 158301245 CAGE_peak_2_at_CD1B_5end
chr1 158301249 158301260 CAGE_peak_8_at_CD1B_5end
chr1 158301312 158301328 CAGE_peak_1_at_CD1B_5end
chr1 158301588 158301605 CAGE_peak_17_at_CD1B_5end
chr1 158301686 158301700 CAGE_peak_6_at_CD1B_5end
chr1 158301703 158301708 CAGE_peak_19_at_CD1B_5end
chr1 158301723 158301737 CAGE_peak_13_at_CD1B_5end
chr1 158301762 158301767 CAGE_peak_16_at_CD1B_5end
chr1 158301806 158301818 CAGE_peak_15_at_CD1B_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I158247 158247601 158249800 1.3 [{'connected_gene': 'CD1A', 'score': 550.77}, {'connected_gene': 'CD1C', 'score': 14.02}, {'connected_gene': 'CD1E', 'score': 5.94}, {'connected_gene': 'CD1D', 'score': 4.5}, {'connected_gene': 'CD1B', 'score': 3.81}, {'connected_gene': 'OR10T2', 'score': 2.31}, {'connected_gene': 'GC01P158261', 'score': 0.44}, {'connected_gene': 'GC01P158260', 'score': 0.44}]
chr1 GH01I158327 158327609 158327734 0.42 [{'connected_gene': 'CD1E', 'score': 7.92}, {'connected_gene': 'CD1B', 'score': 7.4}, {'connected_gene': 'CD1C', 'score': 4.31}, {'connected_gene': 'GC01P158293', 'score': 0.29}, {'connected_gene': 'GC01P158292', 'score': 0.29}]
chr1 GH01I158333 158333888 158334071 0.46 [{'connected_gene': 'CD1E', 'score': 22.01}, {'connected_gene': 'CD1B', 'score': 8.18}, {'connected_gene': 'OR6Y1', 'score': 3.55}, {'connected_gene': 'OR10K2', 'score': 2.75}, {'connected_gene': 'OR6K6', 'score': 2.44}, {'connected_gene': 'OR10T2', 'score': 2.22}, {'connected_gene': 'CD1C', 'score': 1.67}]
chr1 GH01I158324 158324401 158325000 0.94 [{'connected_gene': 'CD1C', 'score': 10.57}, {'connected_gene': 'CD1A', 'score': 10.41}, {'connected_gene': 'CD1B', 'score': 0.44}, {'connected_gene': 'GC01P158293', 'score': 0.29}, {'connected_gene': 'GC01P158292', 'score': 0.29}]
chr1 GH01I158334 158334252 158335389 0.31 [{'connected_gene': 'CD1C', 'score': 10.23}, {'connected_gene': 'CD1B', 'score': 0.77}, {'connected_gene': 'CD1E', 'score': 0.37}]
chr1 GH01I158335 158333401 158333600 0.51 [{'connected_gene': 'CD1B', 'score': 550.77}, {'connected_gene': 'CD1E', 'score': 0.37}]
chr1 GH01I158331 158331521 158331580 0.7 [{'connected_gene': 'CD1B', 'score': 550.77}, {'connected_gene': 'CD1E', 'score': 0.34}]
chr1 GH01I158361 158361950 158366193 0.31 [{'connected_gene': 'CD1B', 'score': 11.17}, {'connected_gene': 'OR10T2', 'score': 11.05}, {'connected_gene': 'CD1C', 'score': 10.47}, {'connected_gene': 'OR10K2', 'score': 10.21}, {'connected_gene': 'OR10X1', 'score': 9.48}, {'connected_gene': 'CD1E', 'score': 5.13}]
chr1 GH01I158444 158444332 158448533 0.2 [{'connected_gene': 'OR10T1P', 'score': 550.77}, {'connected_gene': 'OR10R2', 'score': 11.68}, {'connected_gene': 'OR10K2', 'score': 10.58}, {'connected_gene': 'OR6N2', 'score': 9.29}, {'connected_gene': 'CD1B', 'score': 7.44}, {'connected_gene': 'EI24P2', 'score': 0.44}]
chr1 GH01I158358 158358359 158360954 0.2 [{'connected_gene': 'SPTA1', 'score': 13.68}, {'connected_gene': 'OR10T2', 'score': 11.05}, {'connected_gene': 'CD1B', 'score': 10.67}, {'connected_gene': 'CD1C', 'score': 10.36}, {'connected_gene': 'OR10R2', 'score': 10.06}, {'connected_gene': 'CD1E', 'score': 0.44}]
chr1 GH01I158425 158425793 158426670 0.2 [{'connected_gene': 'OR10K2', 'score': 550.77}, {'connected_gene': 'CD1E', 'score': 10.68}, {'connected_gene': 'OR10T2', 'score': 10.59}, {'connected_gene': 'CD1B', 'score': 7.35}]
chr1 GH01I158424 158424070 158424630 0.2 [{'connected_gene': 'OR10K2', 'score': 550.77}, {'connected_gene': 'CD1B', 'score': 6.49}, {'connected_gene': 'OR10T2', 'score': 0.34}]
chr1 GH01I158426 158424642 158425761 0.2 [{'connected_gene': 'OR10K2', 'score': 550.77}, {'connected_gene': 'CD1B', 'score': 6.45}, {'connected_gene': 'OR10T2', 'score': 0.31}]
chr1 GH01I158420 158420213 158421340 0.2 [{'connected_gene': 'OR10R2', 'score': 10.05}, {'connected_gene': 'OR10T2', 'score': 9.76}, {'connected_gene': 'CD1B', 'score': 6.47}, {'connected_gene': 'OR10K2', 'score': 0.44}]
chr1 GH01I158400 158400866 158401183 0.47 [{'connected_gene': 'OR10T2', 'score': 552.49}, {'connected_gene': 'CD1E', 'score': 15.76}, {'connected_gene': 'CD1B', 'score': 4.43}, {'connected_gene': 'OR10K1', 'score': 1.67}, {'connected_gene': 'OR6K3', 'score': 1.49}, {'connected_gene': 'OR6N1', 'score': 1.47}, {'connected_gene': 'OR10K2', 'score': 0.31}]
chr1 GH01I158434 158434313 158437493 0.31 [{'connected_gene': 'OR10T2', 'score': 10.9}, {'connected_gene': 'OR10R2', 'score': 10.69}, {'connected_gene': 'OR6K2', 'score': 9.37}, {'connected_gene': 'OR10X1', 'score': 9.32}, {'connected_gene': 'CD1B', 'score': 7.14}, {'connected_gene': 'OR10K2', 'score': 0.44}, {'connected_gene': 'OR10T1P', 'score': 0.39}]
chr1 GH01I158493 158493046 158493397 0.26 [{'connected_gene': 'ENSG00000236656', 'score': 550.77}, {'connected_gene': 'CD1E', 'score': 15.21}, {'connected_gene': 'SPTA1', 'score': 7.05}, {'connected_gene': 'OR6N1', 'score': 5.51}, {'connected_gene': 'CD1B', 'score': 4.28}, {'connected_gene': 'OR10T2', 'score': 2.63}, {'connected_gene': 'OR10R3P', 'score': 0.77}]
chr1 GH01I158208 158208239 158209907 0.2 [{'connected_gene': 'ENSG00000176320', 'score': 15.86}, {'connected_gene': 'CD1D', 'score': 15.84}, {'connected_gene': 'ELL2P1', 'score': 10.81}, {'connected_gene': 'CD1B', 'score': 10.17}, {'connected_gene': 'GC01P158217', 'score': 0.44}]
chr1 GH01I158283 158283201 158293035 2.02 [{'connected_gene': 'GC01P158286', 'score': 550.77}, {'connected_gene': 'CD1C', 'score': 550.77}, {'connected_gene': 'CD1B', 'score': 10.07}, {'connected_gene': 'CD1E', 'score': 5.25}, {'connected_gene': 'GC01P158293', 'score': 0.77}, {'connected_gene': 'GC01P158292', 'score': 0.77}]