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
ENST00000375370 [[114239055, 114239203], [114240088, 114240164], [114265310, 114265377], [114277494, 114277601], [114285937, 114286059], [114287434, 114287600], [114288204, 114288348], [114288848, 114288917], [114290291, 114290443], [114290848, 114291015], [114292132, 114292211], [114294434, 114295785]] [[114240152, 114240164], [114265310, 114265377], [114277494, 114277601], [114285937, 114286059], [114287434, 114287600], [114288204, 114288348], [114288848, 114288917], [114290291, 114290443], [114290848, 114291015], [114292132, 114292211], [114294434, 114294582]]
ENST00000494812 [[114291465, 114291557], [114292132, 114292211], [114294434, 114294999]] None
ENST00000538138 [[114239012, 114239045], [114240088, 114240164], [114265310, 114265377], [114277494, 114277601], [114287434, 114287600], [114288204, 114288348], [114288848, 114288917], [114290291, 114290443], [114290848, 114291015], [114292132, 114292199], [114294434, 114294713]] [[114277578, 114277601], [114287434, 114287600], [114288204, 114288348], [114288848, 114288917], [114290291, 114290443], [114290848, 114291015], [114292132, 114292199], [114294434, 114294582]]
ENST00000475254 [[114239035, 114239203], [114239894, 114239992], [114240088, 114240164], [114265310, 114265377], [114277494, 114277601], [114285937, 114286059], [114287434, 114287600]] None
ENST00000464794 [[114239053, 114239203], [114240088, 114240164], [114240280, 114240498]] None
ENST00000465174 [[114239057, 114239203], [114240088, 114240164], [114265310, 114265377], [114277494, 114277601], [114285937, 114286220], [114287434, 114287600], [114288204, 114288314]] None
ENST00000544902 [[114239587, 114239742], [114240088, 114240164], [114265310, 114265377], [114277494, 114277601], [114287434, 114287600], [114288204, 114288348], [114288848, 114288917], [114290291, 114290443], [114290848, 114291015], [114291934, 114292211], [114294434, 114294625]] [[114277578, 114277601], [114287434, 114287600], [114288204, 114288348], [114288848, 114288917], [114290291, 114290443], [114290848, 114291015], [114291934, 114292211], [114294434, 114294582]]
ENST00000408980 [[114239647, 114239742], [114240088, 114240164], [114265310, 114265377], [114277494, 114277601], [114285937, 114286059], [114287434, 114287600], [114288204, 114288348], [114288848, 114288917], [114290291, 114290311]] [[114240152, 114240164], [114265310, 114265377], [114277494, 114277601], [114285937, 114286059], [114287434, 114287600], [114288204, 114288348], [114288848, 114288917], [114290291, 114290311]]
ENST00000453989 [[114239740, 114239992], [114240088, 114240164], [114265310, 114265377], [114277494, 114277601], [114285937, 114286059], [114287434, 114287602]] [[114240152, 114240164], [114265310, 114265377], [114277494, 114277601], [114285937, 114286059], [114287434, 114287602]]
NR_026580 [[114239002, 114239045], [114240088, 114240164], [114265310, 114265377], [114277494, 114277601], [114287434, 114287600], [114288204, 114288348], [114288848, 114288917], [114290291, 114290443], [114290848, 114291015], [114292132, 114292199], [114294434, 114295788]] None
NM_007111 [[114239055, 114239203], [114240088, 114240164], [114265310, 114265377], [114277494, 114277601], [114285937, 114286059], [114287434, 114287600], [114288204, 114288348], [114288848, 114288917], [114290291, 114290443], [114290848, 114291015], [114292132, 114292211], [114294434, 114295788]] [[114240152, 114240164], [114265310, 114265377], [114277494, 114277601], [114285937, 114286059], [114287434, 114287600], [114288204, 114288348], [114288848, 114288917], [114290291, 114290443], [114290848, 114291015], [114292132, 114292211], [114294434, 114294582]]
Promoter
Chrom Start End Description
chr13 114238987 114238994 CAGE_peak_2_at_TFDP1_5end
chr13 114238997 114239077 CAGE_peak_1_at_TFDP1_5end
chr13 114239734 114239752 CAGE_peak_5_at_TFDP1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr13 GH13I113553 113553186 113553335 0.31 [{'connected_gene': 'GRTP1', 'score': 14.84}, {'connected_gene': 'DCUN1D2', 'score': 11.02}, {'connected_gene': 'DCUN1D2-AS', 'score': 10.66}, {'connected_gene': 'GRTP1-AS1', 'score': 10.03}, {'connected_gene': 'ENSG00000276248', 'score': 0.31}, {'connected_gene': 'TFDP1', 'score': 0.29}, {'connected_gene': 'TMCO3', 'score': 0.21}]
chr13 GH13I113583 113583800 113586295 1.95 [{'connected_gene': 'TFDP1', 'score': 550.77}, {'connected_gene': 'CDC16', 'score': 19.17}, {'connected_gene': 'TUBGCP3', 'score': 18.63}, {'connected_gene': 'GRK1', 'score': 13.92}, {'connected_gene': 'PCID2', 'score': 12.39}, {'connected_gene': 'GAS6', 'score': 12.15}, {'connected_gene': 'GAS6-AS1', 'score': 10.32}, {'connected_gene': 'TMCO3', 'score': 9.86}, {'connected_gene': 'PIR60549', 'score': 0.44}]
chr13 GH13I113582 113582946 113583095 0.56 [{'connected_gene': 'TFDP1', 'score': 550.77}, {'connected_gene': 'TMCO3', 'score': 5.54}, {'connected_gene': 'ENSG00000276248', 'score': 0.22}]
chr13 GH13I113586 113586626 113586775 0.2 [{'connected_gene': 'TFDP1', 'score': 0.77}, {'connected_gene': 'PIR60549', 'score': 0.44}]
chr13 GH13I113584 113583266 113583402 0.49 [{'connected_gene': 'TFDP1', 'score': 550.77}, {'connected_gene': 'ENSG00000276248', 'score': 0.22}]
chr13 GH13I113604 113604358 113605311 0.59 [{'connected_gene': 'GRK1', 'score': 14.25}, {'connected_gene': 'PIR60549', 'score': 0.39}, {'connected_gene': 'TFDP1', 'score': 0.34}, {'connected_gene': 'PIR44469', 'score': 0.25}, {'connected_gene': 'GC13P113655', 'score': 0.25}]
chr13 GH13I113610 113610034 113610728 0.31 [{'connected_gene': 'GRK1', 'score': 17.09}, {'connected_gene': 'PIR60549', 'score': 0.37}, {'connected_gene': 'TFDP1', 'score': 0.31}, {'connected_gene': 'PIR44469', 'score': 0.26}, {'connected_gene': 'GC13P113655', 'score': 0.26}]
chr13 GH13I113609 113609402 113609557 0.44 [{'connected_gene': 'GRK1', 'score': 13.14}, {'connected_gene': 'DCUN1D2', 'score': 1.79}, {'connected_gene': 'TMCO3', 'score': 1.64}, {'connected_gene': 'PIR60549', 'score': 0.37}, {'connected_gene': 'TFDP1', 'score': 0.34}, {'connected_gene': 'PIR44469', 'score': 0.26}, {'connected_gene': 'GC13P113655', 'score': 0.26}]
chr13 GH13I113623 113623390 113624537 0.46 [{'connected_gene': 'GRK1', 'score': 13.98}, {'connected_gene': 'DCUN1D2', 'score': 10.03}, {'connected_gene': 'DCUN1D2-AS', 'score': 10.02}, {'connected_gene': 'PIR60549', 'score': 0.29}, {'connected_gene': 'PIR44469', 'score': 0.29}, {'connected_gene': 'GC13P113655', 'score': 0.29}, {'connected_gene': 'TFDP1', 'score': 0.28}]
chr13 GH13I113615 113615801 113617815 1.36 [{'connected_gene': 'GRK1', 'score': 14.17}, {'connected_gene': 'DCUN1D2', 'score': 13.56}, {'connected_gene': 'DCUN1D2-AS', 'score': 10.8}, {'connected_gene': 'TMCO3', 'score': 10.69}, {'connected_gene': 'PIR60549', 'score': 0.34}, {'connected_gene': 'TFDP1', 'score': 0.29}, {'connected_gene': 'PIR44469', 'score': 0.28}, {'connected_gene': 'GC13P113655', 'score': 0.28}]
chr13 GH13I113628 113628433 113630197 0.31 [{'connected_gene': 'GRK1', 'score': 15.72}, {'connected_gene': 'TMCO3', 'score': 10.83}, {'connected_gene': 'PIR44469', 'score': 0.34}, {'connected_gene': 'GC13P113655', 'score': 0.34}, {'connected_gene': 'PIR60549', 'score': 0.28}, {'connected_gene': 'TFDP1', 'score': 0.26}]
chr13 GH13I113639 113639804 113640338 0.38 [{'connected_gene': 'PCID2', 'score': 19.03}, {'connected_gene': 'CDC16', 'score': 19.0}, {'connected_gene': 'CHAMP1', 'score': 11.91}, {'connected_gene': 'DCUN1D2-AS', 'score': 9.78}, {'connected_gene': 'PIR44469', 'score': 0.39}, {'connected_gene': 'GC13P113655', 'score': 0.39}, {'connected_gene': 'PIR60549', 'score': 0.25}, {'connected_gene': 'TFDP1', 'score': 0.22}]
chr13 GH13I113634 113634426 113634575 0.2 [{'connected_gene': 'DCUN1D2', 'score': 10.34}, {'connected_gene': 'DCUN1D2-AS', 'score': 10.33}, {'connected_gene': 'PIR44469', 'score': 0.37}, {'connected_gene': 'GC13P113655', 'score': 0.37}, {'connected_gene': 'PIR60549', 'score': 0.26}, {'connected_gene': 'TFDP1', 'score': 0.25}]
chr13 GH13I113631 113631110 113632328 0.2 [{'connected_gene': 'DCUN1D2', 'score': 10.34}, {'connected_gene': 'DCUN1D2-AS', 'score': 10.33}, {'connected_gene': 'PIR44469', 'score': 0.34}, {'connected_gene': 'GC13P113655', 'score': 0.34}, {'connected_gene': 'PIR60549', 'score': 0.28}, {'connected_gene': 'TFDP1', 'score': 0.25}]
chr13 GH13I113638 113638875 113639260 0.38 [{'connected_gene': 'DCUN1D2', 'score': 10.15}, {'connected_gene': 'DCUN1D2-AS', 'score': 10.13}, {'connected_gene': 'PIR44469', 'score': 0.37}, {'connected_gene': 'GC13P113655', 'score': 0.37}, {'connected_gene': 'PIR60549', 'score': 0.25}, {'connected_gene': 'TFDP1', 'score': 0.23}]
chr13 GH13I113616 113615244 113615644 0.31 [{'connected_gene': 'DCUN1D2', 'score': 10.82}, {'connected_gene': 'DCUN1D2-AS', 'score': 10.8}, {'connected_gene': 'TMCO3', 'score': 6.42}, {'connected_gene': 'PIR60549', 'score': 0.34}, {'connected_gene': 'TFDP1', 'score': 0.29}, {'connected_gene': 'PIR44469', 'score': 0.28}, {'connected_gene': 'GC13P113655', 'score': 0.28}]
chr13 GH13I113619 113619380 113620457 0.31 [{'connected_gene': 'DCUN1D2', 'score': 10.96}, {'connected_gene': 'DCUN1D2-AS', 'score': 10.29}, {'connected_gene': 'TMCO3', 'score': 9.41}, {'connected_gene': 'PIR60549', 'score': 0.31}, {'connected_gene': 'PIR44469', 'score': 0.29}, {'connected_gene': 'GC13P113655', 'score': 0.29}, {'connected_gene': 'TFDP1', 'score': 0.28}]
chr13 GH13I113596 113596229 113597160 0.2 [{'connected_gene': 'TMCO3', 'score': 10.69}, {'connected_gene': 'PIR60549', 'score': 0.77}, {'connected_gene': 'TFDP1', 'score': 0.39}, {'connected_gene': 'PIR44469', 'score': 0.22}, {'connected_gene': 'GC13P113655', 'score': 0.22}]
chr13 GH13I113606 113606413 113608792 1.2 [{'connected_gene': 'TMCO3', 'score': 11.1}, {'connected_gene': 'DCUN1D2', 'score': 2.71}, {'connected_gene': 'PIR60549', 'score': 0.37}, {'connected_gene': 'TFDP1', 'score': 0.34}, {'connected_gene': 'PIR44469', 'score': 0.25}, {'connected_gene': 'GC13P113655', 'score': 0.25}]
chr13 GH13I113562 113562179 113563175 0.92 [{'connected_gene': 'TMCO3', 'score': 13.53}, {'connected_gene': 'DCUN1D2', 'score': 5.67}, {'connected_gene': 'TFDP1', 'score': 0.34}, {'connected_gene': 'ENSG00000276248', 'score': 0.28}]
chr13 GH13I113544 113544035 113548955 0.98 [{'connected_gene': 'TMCO3', 'score': 36.25}, {'connected_gene': 'DCUN1D2', 'score': 5.52}, {'connected_gene': 'ENSG00000267868', 'score': 5.09}, {'connected_gene': 'ENSG00000276248', 'score': 0.37}, {'connected_gene': 'TFDP1', 'score': 0.28}]
chr13 GH13I113557 113557601 113557800 0.46 [{'connected_gene': 'TMCO3', 'score': 24.87}, {'connected_gene': 'DCUN1D2', 'score': 17.0}, {'connected_gene': 'DCUN1D2-AS', 'score': 10.65}, {'connected_gene': 'GRTP1', 'score': 10.03}, {'connected_gene': 'GRTP1-AS1', 'score': 10.03}, {'connected_gene': 'TFDP1', 'score': 0.31}, {'connected_gene': 'ENSG00000276248', 'score': 0.29}]
chr13 GH13I113617 113617984 113618940 0.2 [{'connected_gene': 'TMCO3', 'score': 10.98}, {'connected_gene': 'DCUN1D2', 'score': 10.96}, {'connected_gene': 'DCUN1D2-AS', 'score': 10.3}, {'connected_gene': 'PIR60549', 'score': 0.31}, {'connected_gene': 'TFDP1', 'score': 0.29}, {'connected_gene': 'PIR44469', 'score': 0.28}, {'connected_gene': 'GC13P113655', 'score': 0.28}]
chr13 GH13I113531 113531072 113534827 0.49 [{'connected_gene': 'TMCO3', 'score': 37.4}, {'connected_gene': 'DCUN1D2', 'score': 16.92}, {'connected_gene': 'DCUN1D2-AS', 'score': 11.62}, {'connected_gene': 'ADPRHL1', 'score': 7.05}, {'connected_gene': 'ENSG00000276248', 'score': 0.44}, {'connected_gene': 'TFDP1', 'score': 0.23}]
chr13 GH13I113640 113640583 113640791 0.2 [{'connected_gene': 'PIR44469', 'score': 0.39}, {'connected_gene': 'GC13P113655', 'score': 0.39}, {'connected_gene': 'PIR60549', 'score': 0.25}, {'connected_gene': 'TFDP1', 'score': 0.22}]
chr13 GH13I113527 113527401 113528600 0.2 [{'connected_gene': 'ENSG00000276248', 'score': 550.77}, {'connected_gene': 'GC13P113528', 'score': 550.77}, {'connected_gene': 'TMCO3', 'score': 46.29}, {'connected_gene': 'DCUN1D2', 'score': 16.65}, {'connected_gene': 'DCUN1D2-AS', 'score': 11.35}, {'connected_gene': 'ADPRHL1', 'score': 11.01}, {'connected_gene': 'TFDP1', 'score': 0.22}]