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
ENST00000240055 [[104510854, 104513547], [104514177, 104514257], [104515017, 104515099], [104517003, 104517201], [104519891, 104520022], [104522201, 104522295], [104529225, 104529310], [104531918, 104532067]] [[104513514, 104513547], [104514177, 104514257], [104515017, 104515099], [104517003, 104517201], [104519891, 104520022], [104522201, 104522295], [104529225, 104529231]]
ENST00000551727 [[104513132, 104513547], [104514177, 104514257], [104515017, 104515099], [104517003, 104517201], [104519891, 104520022], [104522201, 104522295], [104529225, 104529310], [104531153, 104531795]] [[104513514, 104513547], [104514177, 104514257], [104515017, 104515099], [104517003, 104517201], [104519891, 104520022], [104522201, 104522295], [104529225, 104529231]]
ENST00000550189 [[104515031, 104515099], [104517003, 104517201], [104519891, 104520022], [104522201, 104522390]] None
ENST00000551446 [[104517041, 104517201], [104519891, 104520022], [104522201, 104522295], [104525531, 104525616], [104529225, 104529310], [104531918, 104531981]] [[104517041, 104517201], [104519891, 104520022], [104522201, 104522295], [104525531, 104525540]]
ENST00000550881 [[104524909, 104525616], [104529225, 104529310], [104531918, 104532019]] None
NM_006166 [[104510857, 104513547], [104514177, 104514257], [104515017, 104515099], [104517003, 104517201], [104519891, 104520022], [104522201, 104522295], [104529225, 104529310], [104531918, 104532040]] [[104513514, 104513547], [104514177, 104514257], [104515017, 104515099], [104517003, 104517201], [104519891, 104520022], [104522201, 104522295], [104529225, 104529231]]
Promoter
Chrom Start End Description
chr12 104531768 104531782 CAGE_peak_7_at_NFYB_5end
chr12 104531785 104531812 CAGE_peak_3_at_NFYB_5end
chr12 104531823 104531849 CAGE_peak_5_at_NFYB_5end
chr12 104531854 104531893 CAGE_peak_2_at_NFYB_5end
chr12 104531945 104531996 CAGE_peak_1_at_NFYB_5end
chr12 104532004 104532033 CAGE_peak_4_at_NFYB_5end
chr12 104532062 104532071 CAGE_peak_6_at_NFYB_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr12 GH12I103964 103964391 103967512 2.11 [{'connected_gene': 'TDG', 'score': 600.16}, {'connected_gene': 'C12orf73', 'score': 563.48}, {'connected_gene': 'NFYB', 'score': 11.8}, {'connected_gene': 'TTC41P', 'score': 10.96}, {'connected_gene': 'HSP90B1', 'score': 10.96}, {'connected_gene': 'GC12P104022', 'score': 0.22}]
chr12 GH12I104254 104254876 104256860 0.63 [{'connected_gene': 'TDG', 'score': 16.98}, {'connected_gene': 'WASHC4', 'score': 14.0}, {'connected_gene': 'NFYB', 'score': 6.06}, {'connected_gene': 'EID3', 'score': 5.72}, {'connected_gene': 'RPL18AP3', 'score': 0.44}, {'connected_gene': 'TXNRD1', 'score': 0.26}]
chr12 GH12I104316 104316662 104318102 0.31 [{'connected_gene': 'EID3', 'score': 40.53}, {'connected_gene': 'NFYB', 'score': 5.92}, {'connected_gene': 'TDG', 'score': 5.25}, {'connected_gene': 'GC12P104350', 'score': 0.29}, {'connected_gene': 'PIR31122', 'score': 0.29}, {'connected_gene': 'TXNRD1', 'score': 0.15}]
chr12 GH12I104054 104054907 104055712 0.38 [{'connected_gene': 'NFYB', 'score': 11.22}, {'connected_gene': 'TDG', 'score': 11.09}, {'connected_gene': 'C12orf73', 'score': 6.0}, {'connected_gene': 'GC12M104037', 'score': 0.44}, {'connected_gene': 'GLT8D2', 'score': 0.44}, {'connected_gene': 'GC12M104050', 'score': 0.39}, {'connected_gene': 'PIR60229', 'score': 0.34}, {'connected_gene': 'GC12P104035', 'score': 0.34}, {'connected_gene': 'GC12P104034', 'score': 0.34}, {'connected_gene': 'GC12P104033', 'score': 0.34}, {'connected_gene': 'GC12P104032', 'score': 0.34}, {'connected_gene': 'GC12P104022', 'score': 0.29}]
chr12 GH12I104055 104055800 104057399 0.79 [{'connected_gene': 'NFYB', 'score': 11.22}, {'connected_gene': 'TDG', 'score': 11.09}, {'connected_gene': 'NT5DC3', 'score': 9.45}, {'connected_gene': 'GC12M104037', 'score': 0.44}, {'connected_gene': 'GC12M104050', 'score': 0.44}, {'connected_gene': 'GLT8D2', 'score': 0.44}, {'connected_gene': 'PIR60229', 'score': 0.31}, {'connected_gene': 'GC12P104035', 'score': 0.31}, {'connected_gene': 'GC12P104034', 'score': 0.31}, {'connected_gene': 'GC12P104033', 'score': 0.31}, {'connected_gene': 'GC12P104032', 'score': 0.31}, {'connected_gene': 'GC12P104022', 'score': 0.29}]
chr12 GH12I104136 104136133 104139386 1.98 [{'connected_gene': 'NFYB', 'score': 556.21}, {'connected_gene': 'TDG', 'score': 27.79}, {'connected_gene': 'WASHC4', 'score': 21.03}, {'connected_gene': 'RNA5SP370', 'score': 0.39}]
chr12 GH12I104351 104351840 104352682 0.46 [{'connected_gene': 'NFYB', 'score': 5.9}, {'connected_gene': 'TDG', 'score': 5.24}, {'connected_gene': 'GC12P104350', 'score': 0.77}, {'connected_gene': 'PIR31122', 'score': 0.77}, {'connected_gene': 'GC12P104371', 'score': 0.37}]
chr12 GH12I104093 104093798 104094939 0.2 [{'connected_gene': 'NFYB', 'score': 11.59}, {'connected_gene': 'GC12M104073', 'score': 0.39}, {'connected_gene': 'HCFC2', 'score': 0.31}, {'connected_gene': 'RNA5SP370', 'score': 0.29}]
chr12 GH12I104135 104135001 104135200 0.43 [{'connected_gene': 'NFYB', 'score': 0.77}, {'connected_gene': 'RNA5SP370', 'score': 0.44}]
chr12 GH12I104985 104985619 104987903 1.98 [{'connected_gene': 'C12orf45', 'score': 561.39}, {'connected_gene': 'LOC105369952', 'score': 550.77}, {'connected_gene': 'SLC41A2', 'score': 15.43}, {'connected_gene': 'NFYB', 'score': 11.73}, {'connected_gene': 'ALDH1L2', 'score': 10.58}, {'connected_gene': 'PIR60982', 'score': 0.77}, {'connected_gene': 'GC12M104965', 'score': 0.44}]
chr12 GH12I104119 104119365 104119569 0.4 [{'connected_gene': 'RNA5SP370', 'score': 0.44}, {'connected_gene': 'NFYB', 'score': 0.37}, {'connected_gene': 'GC12M104073', 'score': 0.28}]
chr12 GH12I104120 104120459 104121971 0.49 [{'connected_gene': 'RNA5SP370', 'score': 0.77}, {'connected_gene': 'NFYB', 'score': 0.37}, {'connected_gene': 'GC12M104073', 'score': 0.28}]
chr12 GH12I104063 104063204 104066012 2.06 [{'connected_gene': 'GC12M104037', 'score': 550.77}, {'connected_gene': 'GLT8D2', 'score': 550.77}, {'connected_gene': 'GC12M104050', 'score': 550.77}, {'connected_gene': 'HCFC2', 'score': 550.77}, {'connected_gene': 'NFYB', 'score': 15.84}, {'connected_gene': 'C12orf73', 'score': 6.09}]