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
ENST00000340700 [[88649112, 88652499], [88654310, 88654453], [88658567, 88658754], [88693718, 88693879], [88707046, 88707164], [88729545, 88729895], [88792762, 88793251]] [[88651878, 88652499], [88654310, 88654453], [88658567, 88658754], [88693718, 88693879], [88707046, 88707164], [88729545, 88729895], [88792762, 88792799]]
ENST00000312350 [[88651236, 88652499], [88654310, 88654453], [88658567, 88658754], [88693718, 88693879], [88707046, 88707164], [88729545, 88729895], [88737081, 88737255]] [[88651878, 88652499], [88654310, 88654453], [88658567, 88658754], [88693718, 88693879], [88707046, 88707164], [88729545, 88729895], [88737081, 88737133]]
ENST00000319231 [[88651236, 88652499], [88654310, 88654453], [88658567, 88658754], [88693718, 88693879], [88707046, 88707164], [88729545, 88729895], [88789090, 88789593]] [[88651878, 88652499], [88654310, 88654453], [88658567, 88658754], [88693718, 88693879], [88707046, 88707164], [88729545, 88729895], [88789090, 88789142]]
ENST00000556282 [[88707045, 88707164], [88729545, 88729895], [88789990, 88790069]] [[88707045, 88707164], [88729545, 88729895], [88789990, 88789991]]
NM_138318 [[88646451, 88652499], [88654310, 88654453], [88658567, 88658754], [88693718, 88693879], [88707046, 88707164], [88729545, 88729895], [88737081, 88737255]] [[88651878, 88652499], [88654310, 88654453], [88658567, 88658754], [88693718, 88693879], [88707046, 88707164], [88729545, 88729895], [88737081, 88737133]]
NM_138317 [[88646451, 88652499], [88654310, 88654453], [88658567, 88658754], [88693718, 88693879], [88707046, 88707164], [88729545, 88729895], [88789090, 88789593]] [[88651878, 88652499], [88654310, 88654453], [88658567, 88658754], [88693718, 88693879], [88707046, 88707164], [88729545, 88729895], [88789090, 88789142]]
NM_021161 [[88646451, 88652499], [88654310, 88654453], [88658567, 88658754], [88693718, 88693879], [88707046, 88707164], [88729545, 88729895], [88792762, 88793256]] [[88651878, 88652499], [88654310, 88654453], [88658567, 88658754], [88693718, 88693879], [88707046, 88707164], [88729545, 88729895], [88792762, 88792799]]
Promoter
Chrom Start End Description
chr14 88789549 88789577 CAGE_peak_1_at_KCNK10_5end
chr14 88789581 88789603 CAGE_peak_3_at_KCNK10_5end
chr14 88789604 88789628 CAGE_peak_2_at_KCNK10_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr14 GH14I088306 88306192 88306209 0.22 [{'connected_gene': 'SPATA7', 'score': 10.86}, {'connected_gene': 'KCNK10', 'score': 2.78}, {'connected_gene': 'PIR46896', 'score': 0.13}]
chr14 GH14I088364 88364018 88366269 0.54 [{'connected_gene': 'SPATA7', 'score': 17.09}, {'connected_gene': 'KCNK10', 'score': 0.28}]
chr14 GH14I087869 87869194 87870662 0.94 [{'connected_gene': 'KCNK10', 'score': 2.22}, {'connected_gene': 'GPR65', 'score': 1.36}, {'connected_gene': 'ENSG00000258807', 'score': 0.77}, {'connected_gene': 'ENSG00000259077', 'score': 0.22}, {'connected_gene': 'GALC', 'score': 0.13}]
chr14 GH14I088322 88322092 88322130 0.44 [{'connected_gene': 'KCNK10', 'score': 7.0}, {'connected_gene': 'SPATA7', 'score': 2.21}, {'connected_gene': 'PIR46896', 'score': 0.12}]
chr14 GH14I088326 88326921 88326980 0.84 [{'connected_gene': 'KCNK10', 'score': 550.77}, {'connected_gene': 'SPATA7', 'score': 0.22}]
chr14 GH14I087901 87901193 87901611 0.22 [{'connected_gene': 'KCNK10', 'score': 1.27}, {'connected_gene': 'ENSG00000258807', 'score': 0.31}, {'connected_gene': 'FAM35CP', 'score': 0.23}, {'connected_gene': 'GALC', 'score': 0.16}]
chr14 GH14I088325 88322737 88322886 0.49 [{'connected_gene': 'KCNK10', 'score': 0.77}, {'connected_gene': 'PIR46896', 'score': 0.12}]
chr14 GH14I088324 88323259 88323318 0.87 [{'connected_gene': 'KCNK10', 'score': 550.77}, {'connected_gene': 'PIR46896', 'score': 0.12}]
chr14 GH14I088269 88269707 88271529 0.88 [{'connected_gene': 'KCNK10', 'score': 556.39}, {'connected_gene': 'PIR46896', 'score': 0.18}]
chr14 GH14I088323 88323400 88323866 1.07 [{'connected_gene': 'KCNK10', 'score': 0.77}, {'connected_gene': 'PIR46896', 'score': 0.12}]
chr14 GH14I088245 88245377 88245526 0.81 [{'connected_gene': 'PIR46896', 'score': 0.22}, {'connected_gene': 'KCNK10', 'score': 0.18}]
chr14 GH14I088202 88202377 88202526 0.31 [{'connected_gene': 'PIR46896', 'score': 0.37}, {'connected_gene': 'KCNK10', 'score': 0.13}]
chr14 GH14I088188 88188911 88190489 1.01 [{'connected_gene': 'PIR46896', 'score': 0.77}, {'connected_gene': 'KCNK10', 'score': 0.12}]
chr14 GH14I088248 88248697 88248846 0.49 [{'connected_gene': 'PIR46896', 'score': 0.21}, {'connected_gene': 'KCNK10', 'score': 0.18}]
chr14 GH14I088234 88234057 88234206 0.46 [{'connected_gene': 'PIR46896', 'score': 0.25}, {'connected_gene': 'KCNK10', 'score': 0.16}]
chr14 GH14I088063 88063879 88067116 0.78 [{'connected_gene': 'GC14P088067', 'score': 550.77}, {'connected_gene': 'GALC', 'score': 26.56}, {'connected_gene': 'GPR65', 'score': 7.16}, {'connected_gene': 'KCNK10', 'score': 1.24}, {'connected_gene': 'LOC101928791', 'score': 0.31}, {'connected_gene': 'LINC01146', 'score': 0.26}]