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
ENST00000371884 [[47681961, 47685846], [47689675, 47689770], [47691114, 47691561], [47694867, 47695023], [47697328, 47697387]] [[47685391, 47685846], [47689675, 47689770]]
ENST00000371883 [[47681962, 47685846], [47689675, 47689776], [47691114, 47691561], [47694867, 47695443]] [[47685391, 47685846], [47689675, 47689776]]
ENST00000294339 [[47681963, 47685846], [47689675, 47689770], [47691114, 47691561], [47694867, 47695443]] [[47685391, 47685846], [47689675, 47689770]]
ENST00000459729 [[47684359, 47685846], [47689055, 47689291], [47689675, 47689748]] None
ENST00000464796 [[47689743, 47689770], [47694867, 47695023], [47697838, 47697892]] None
ENST00000481091 [[47694018, 47694194], [47694867, 47695023], [47696718, 47696890]] None
ENST00000465912 [[47694019, 47694194], [47694867, 47695125]] None
NM_001287347 [[47681961, 47685846], [47689675, 47689770], [47691114, 47691561], [47694867, 47695023], [47697328, 47697387]] [[47685391, 47685846], [47689675, 47689770]]
NM_001290404 [[47681961, 47685846], [47689675, 47689770], [47691114, 47691561], [47694867, 47695023], [47696581, 47696713], [47697519, 47697561]] [[47685391, 47685846], [47689675, 47689770]]
NM_001290405 [[47681961, 47685846], [47689675, 47689770], [47691114, 47691561], [47694867, 47695023], [47697519, 47697561]] [[47685391, 47685846], [47689675, 47689770]]
NM_003189 [[47681961, 47685846], [47689675, 47689770], [47691114, 47691561], [47694867, 47695023], [47695325, 47695443], [47697838, 47698007]] [[47685391, 47685846], [47689675, 47689770]]
NM_001290403 [[47681961, 47685846], [47689675, 47689770], [47691114, 47691561], [47694867, 47695023], [47697838, 47698007]] [[47685391, 47685846], [47689675, 47689770]]
NM_001290406 [[47681961, 47685846], [47689675, 47689770], [47697838, 47698007]] [[47685391, 47685846], [47689675, 47689739]]
Promoter
Chrom Start End Description
chr1 47691303 47691319 CAGE_peak_5_at_TAL1_5end
chr1 47694935 47694944 CAGE_peak_15_at_TAL1_5end
chr1 47695003 47695042 CAGE_peak_2_at_TAL1_5end
chr1 47695156 47695179 CAGE_peak_10_at_TAL1_5end
chr1 47695202 47695211 CAGE_peak_16_at_TAL1_5end
chr1 47696918 47696935 CAGE_peak_6_at_TAL1_5end
chr1 47697439 47697457 CAGE_peak_9_at_TAL1_5end
chr1 47697539 47697573 CAGE_peak_3_at_TAL1_5end
chr1 47697591 47697604 CAGE_peak_11_at_TAL1_5end
chr1 47697859 47697869 CAGE_peak_14_at_TAL1_5end
chr1 47697881 47697910 CAGE_peak_4_at_TAL1_5end
chr1 47697965 47697991 CAGE_peak_7_at_TAL1_5end
chr1 47698007 47698019 CAGE_peak_13_at_TAL1_5end
chr1 47779762 47779827 CAGE_peak_1_at_STIL_5end,CAGE_peak_1_at_TAL1_5end
chr1 47779845 47779848 CAGE_peak_3_at_STIL_5end,CAGE_peak_8_at_TAL1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I047320 47320172 47321063 0.6 [{'connected_gene': 'TAL1', 'score': 11.64}, {'connected_gene': 'ENSG00000226252', 'score': 10.23}, {'connected_gene': 'GC01M047322', 'score': 0.77}, {'connected_gene': 'STIL', 'score': 0.44}]
chr1 GH01I047253 47253511 47254946 0.72 [{'connected_gene': 'TAL1', 'score': 12.44}, {'connected_gene': 'ENSG00000226252', 'score': 12.42}, {'connected_gene': 'CMPK1', 'score': 11.96}, {'connected_gene': 'LINC00853', 'score': 11.03}, {'connected_gene': 'CYP4A22-AS1', 'score': 11.03}, {'connected_gene': 'FOXD2-AS1', 'score': 9.64}, {'connected_gene': 'FOXD2', 'score': 9.64}, {'connected_gene': 'GC01M047285', 'score': 0.29}, {'connected_gene': 'STIL', 'score': 0.21}]
chr1 GH01I047193 47193694 47194992 0.56 [{'connected_gene': 'TAL1', 'score': 19.29}, {'connected_gene': 'ENSG00000226252', 'score': 12.94}, {'connected_gene': 'FOXE3', 'score': 9.69}, {'connected_gene': 'LINC01389', 'score': 9.68}, {'connected_gene': 'CYP4A22', 'score': 4.52}, {'connected_gene': 'PDZK1IP1', 'score': 0.77}, {'connected_gene': 'GC01M047220', 'score': 0.31}]
chr1 GH01I047224 47224506 47233276 2.17 [{'connected_gene': 'TAL1', 'score': 567.65}, {'connected_gene': 'LRRC41', 'score': 14.7}, {'connected_gene': 'PDZK1IP1', 'score': 13.24}, {'connected_gene': 'LINC01389', 'score': 11.0}, {'connected_gene': 'NSUN4', 'score': 10.91}, {'connected_gene': 'EFCAB14-AS1', 'score': 10.18}, {'connected_gene': 'FOXE3', 'score': 7.15}, {'connected_gene': 'ENSG00000226252', 'score': 0.77}]
chr1 GH01I047234 47234786 47236154 1.07 [{'connected_gene': 'TAL1', 'score': 2.07}, {'connected_gene': 'GC01M047285', 'score': 0.23}]
chr1 GH01I047233 47233622 47233931 0.74 [{'connected_gene': 'TAL1', 'score': 550.77}, {'connected_gene': 'GC01M047285', 'score': 0.23}]
chr1 GH01I047252 47252433 47252753 0.53 [{'connected_gene': 'CMPK1', 'score': 15.85}, {'connected_gene': 'TAL1', 'score': 12.44}, {'connected_gene': 'ENSG00000226252', 'score': 12.42}, {'connected_gene': 'LINC00853', 'score': 11.03}, {'connected_gene': 'CYP4A22-AS1', 'score': 11.03}, {'connected_gene': 'FOXD2-AS1', 'score': 9.65}, {'connected_gene': 'FOXD2', 'score': 9.65}, {'connected_gene': 'GC01M047285', 'score': 0.29}, {'connected_gene': 'STIL', 'score': 0.21}]
chr1 GH01I047332 47332179 47336398 2.53 [{'connected_gene': 'CMPK1', 'score': 563.39}, {'connected_gene': 'ENSG00000226252', 'score': 16.74}, {'connected_gene': 'FOXE3', 'score': 16.2}, {'connected_gene': 'TAL1', 'score': 11.51}, {'connected_gene': 'LINC01389', 'score': 10.08}, {'connected_gene': 'PDZK1IP1', 'score': 6.51}, {'connected_gene': 'FOXD2', 'score': 4.62}, {'connected_gene': 'GC01P047350', 'score': 0.37}]
chr1 GH01I047211 47211339 47214008 1.54 [{'connected_gene': 'PDZK1IP1', 'score': 23.82}, {'connected_gene': 'TAL1', 'score': 6.62}, {'connected_gene': 'CMPK1', 'score': 4.44}, {'connected_gene': 'GC01M047220', 'score': 0.39}]
chr1 GH01I047188 47188961 47193508 1.88 [{'connected_gene': 'PDZK1IP1', 'score': 575.53}, {'connected_gene': 'ENSG00000226252', 'score': 12.94}, {'connected_gene': 'TAL1', 'score': 12.91}, {'connected_gene': 'FOXE3', 'score': 11.4}, {'connected_gene': 'LINC01389', 'score': 11.39}, {'connected_gene': 'FOXD2-AS1', 'score': 10.0}, {'connected_gene': 'FOXD2', 'score': 10.0}, {'connected_gene': 'GC01M047220', 'score': 0.29}]
chr1 GH01I047241 47241128 47242265 1.05 [{'connected_gene': 'PDZK1IP1', 'score': 9.6}, {'connected_gene': 'TAL1', 'score': 0.44}, {'connected_gene': 'GC01M047285', 'score': 0.25}]
chr1 GH01I047237 47237709 47237858 0.72 [{'connected_gene': 'PDZK1IP1', 'score': 10.42}, {'connected_gene': 'TAL1', 'score': 0.44}, {'connected_gene': 'GC01M047285', 'score': 0.25}]
chr1 GH01I047240 47240383 47240901 0.38 [{'connected_gene': 'PDZK1IP1', 'score': 9.73}, {'connected_gene': 'TAL1', 'score': 0.44}, {'connected_gene': 'GC01M047285', 'score': 0.25}]
chr1 GH01I047242 47242368 47243340 0.49 [{'connected_gene': 'PDZK1IP1', 'score': 11.01}, {'connected_gene': 'TAL1', 'score': 0.39}, {'connected_gene': 'GC01M047285', 'score': 0.26}]
chr1 GH01I047243 47243410 47244643 0.64 [{'connected_gene': 'PDZK1IP1', 'score': 6.53}, {'connected_gene': 'TAL1', 'score': 0.39}, {'connected_gene': 'GC01M047285', 'score': 0.26}]
chr1 GH01I047178 47178625 47183099 1.8 [{'connected_gene': 'LINC00853', 'score': 558.93}, {'connected_gene': 'CYP4A22-AS1', 'score': 550.77}, {'connected_gene': 'PDZK1IP1', 'score': 19.72}, {'connected_gene': 'EFCAB14-AS1', 'score': 18.89}, {'connected_gene': 'TAL1', 'score': 16.25}, {'connected_gene': 'LRRC41', 'score': 15.07}, {'connected_gene': 'ENSG00000226252', 'score': 10.94}, {'connected_gene': 'MOB3C', 'score': 10.65}, {'connected_gene': 'CYP4B1', 'score': 10.6}, {'connected_gene': 'ENSG00000225028', 'score': 9.74}, {'connected_gene': 'CYP4A22', 'score': 7.63}]
chr1 GH01I047322 47322926 47326486 0.85 [{'connected_gene': 'GC01M047322', 'score': 550.77}, {'connected_gene': 'ENSG00000226252', 'score': 15.77}, {'connected_gene': 'CMPK1', 'score': 14.13}, {'connected_gene': 'TAL1', 'score': 11.04}, {'connected_gene': 'LINC00853', 'score': 10.15}, {'connected_gene': 'CYP4A22-AS1', 'score': 10.15}, {'connected_gene': 'FOXE3', 'score': 5.68}, {'connected_gene': 'GC01P047330', 'score': 0.44}]
chr1 GH01I047221 47221296 47221971 0.38 [{'connected_gene': 'GC01M047220', 'score': 550.77}, {'connected_gene': 'PDZK1IP1', 'score': 9.29}, {'connected_gene': 'TAL1', 'score': 0.39}]
chr1 GH01I047222 47222430 47224381 0.6 [{'connected_gene': 'GC01M047220', 'score': 550.77}, {'connected_gene': 'PDZK1IP1', 'score': 8.97}, {'connected_gene': 'ENSG00000226252', 'score': 0.77}, {'connected_gene': 'TAL1', 'score': 0.44}]