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
ENST00000320477 [[12254317, 12254420], [12262823, 12262968], [12264305, 12264452], [12274091, 12274273], [12277121, 12277372]] [[12254382, 12254420], [12262823, 12262968], [12264305, 12264452], [12274091, 12274273], [12277121, 12277269]]
ENST00000522713 [[12254359, 12254955], [12262823, 12262968], [12263598, 12263865], [12264305, 12264452], [12274091, 12274273], [12277121, 12277592]] [[12254382, 12254955], [12262823, 12262853]]
ENST00000521296 [[12254700, 12254955], [12262823, 12262968], [12264305, 12264452], [12274091, 12274273], [12277121, 12277594]] None
ENST00000520620 [[12254723, 12254955], [12262823, 12262968], [12264305, 12264452], [12277121, 12277480]] None
NM_001279 [[12254317, 12254420], [12262823, 12262968], [12264305, 12264452], [12274091, 12274273], [12277121, 12277594]] [[12254382, 12254420], [12262823, 12262968], [12264305, 12264452], [12274091, 12274273], [12277121, 12277269]]
NM_001318383 [[12254359, 12254955], [12262823, 12262968], [12264305, 12264452], [12274091, 12274273], [12277121, 12277594]] [[12254815, 12254955], [12262823, 12262968], [12264305, 12264452], [12274091, 12274273], [12277121, 12277269]]
NR_134607 [[12254359, 12254955], [12262823, 12262968], [12263598, 12263865], [12264305, 12264452], [12274091, 12274273], [12277121, 12277594]] None
Promoter
Chrom Start End Description
chr18 12254319 12254336 CAGE_peak_2_at_CIDEA_5end
chr18 12254353 12254366 CAGE_peak_1_at_CIDEA_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr18 GH18I012257 12257421 12257642 0.51 [{'connected_gene': 'CIDEA', 'score': 13.45}, {'connected_gene': 'RNU6-170P', 'score': 11.35}, {'connected_gene': 'TUBB6', 'score': 11.34}, {'connected_gene': 'LOC105371996', 'score': 0.77}, {'connected_gene': 'ENSG00000280302', 'score': 0.34}]
chr18 GH18I012254 12253429 12256701 1.47 [{'connected_gene': 'CIDEA', 'score': 566.06}, {'connected_gene': 'LOC105371996', 'score': 550.77}, {'connected_gene': 'TUBB6', 'score': 11.9}, {'connected_gene': 'RNU6-170P', 'score': 11.28}, {'connected_gene': 'ENSG00000267733', 'score': 5.1}, {'connected_gene': 'PRELID3A', 'score': 4.81}, {'connected_gene': 'ENSG00000267199', 'score': 4.65}, {'connected_gene': 'ENSG00000280302', 'score': 0.34}]
chr18 GH18I012271 12271029 12272651 1.33 [{'connected_gene': 'CIDEA', 'score': 4.85}, {'connected_gene': 'ENSG00000280302', 'score': 0.44}, {'connected_gene': 'LOC105371996', 'score': 0.37}]
chr18 GH18I012258 12258909 12259254 0.54 [{'connected_gene': 'RNU6-170P', 'score': 11.35}, {'connected_gene': 'TUBB6', 'score': 11.35}, {'connected_gene': 'CIDEA', 'score': 9.14}, {'connected_gene': 'LOC105371996', 'score': 0.77}, {'connected_gene': 'ENSG00000280302', 'score': 0.34}]
chr18 GH18I012253 12253141 12253242 0.53 [{'connected_gene': 'LOC105371996', 'score': 550.77}, {'connected_gene': 'CIDEA', 'score': 550.77}, {'connected_gene': 'SPIRE1', 'score': 1.65}, {'connected_gene': 'PPIAP56', 'score': 0.44}]
chr18 GH18I012246 12246848 12248907 0.6 [{'connected_gene': 'PPIAP56', 'score': 550.77}, {'connected_gene': 'CIDEA', 'score': 10.1}]
chr18 GH18I012277 12277496 12284245 1.67 [{'connected_gene': 'ENSG00000280302', 'score': 550.77}, {'connected_gene': 'TUBB6', 'score': 22.77}, {'connected_gene': 'ENSG00000267199', 'score': 9.01}, {'connected_gene': 'PRELID3A', 'score': 7.47}, {'connected_gene': 'ENSG00000267069', 'score': 6.36}, {'connected_gene': 'CIDEA', 'score': 4.84}]