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
ENST00000508064 [[207818518, 207818675], [207850733, 207850913], [207851542, 207851642], [207857216, 207857302], [207867697, 207868096], [207870847, 207871024], [207871115, 207871218], [207872533, 207872619], [207874863, 207874963], [207881522, 207881608], [207890808, 207891036], [207896962, 207897048]] [[207818578, 207818675], [207850733, 207850913], [207851542, 207851642], [207857216, 207857302], [207867697, 207868096], [207870847, 207871024], [207871115, 207871218], [207872533, 207872619], [207874863, 207874963], [207881522, 207881608], [207890808, 207891036], [207896962, 207897030]]
ENST00000530905 [[207842783, 207842910], [207850733, 207850913], [207851542, 207851642], [207857216, 207857302], [207883726, 207884163]] None
ENST00000294997 [[207850804, 207850913], [207851542, 207851642], [207857216, 207857302], [207867697, 207868096], [207870847, 207871024], [207871115, 207871218], [207872533, 207872619], [207874863, 207874963], [207888656, 207888742], [207890808, 207891036], [207896962, 207896986], [207897977, 207898053], [207911748, 207911761]] [[207850804, 207850913], [207851542, 207851642], [207857216, 207857302], [207867697, 207868096], [207870847, 207871024], [207871115, 207871218], [207872533, 207872619], [207874863, 207874963], [207888656, 207888663]]
ENST00000531844 [[207818457, 207818675], [207850733, 207850913], [207851542, 207851642], [207857216, 207857381]] None
ENST00000430248 [[207842460, 207842561], [207850733, 207850913], [207851542, 207851612]] None
NM_175710 [[207818457, 207818675], [207850733, 207850913], [207851542, 207851642], [207857216, 207857302], [207867697, 207868096], [207870847, 207871024], [207871115, 207871218], [207872533, 207872619], [207874863, 207874963], [207881522, 207881608], [207890808, 207891036], [207896962, 207897036]] [[207818578, 207818675], [207850733, 207850913], [207851542, 207851642], [207857216, 207857302], [207867697, 207868096], [207870847, 207871024], [207871115, 207871218], [207872533, 207872619], [207874863, 207874963], [207881522, 207881608], [207890808, 207891036], [207896962, 207897030]]
Promoter
Chrom Start End Description
chr1 207818460 207818496 CAGE_peak_1_at_CR1L_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I207728 207728636 207728785 0.77 [{'connected_gene': 'C4BPA', 'score': 5.85}, {'connected_gene': 'GC01P207741', 'score': 0.39}, {'connected_gene': 'GC01M207468', 'score': 0.39}, {'connected_gene': 'CR1L', 'score': 0.18}]
chr1 GH01I207846 207846792 207853800 1.45 [{'connected_gene': 'CD46', 'score': 26.9}, {'connected_gene': 'CD34', 'score': 11.45}, {'connected_gene': 'CR1L', 'score': 5.07}, {'connected_gene': 'PLXNA2', 'score': 2.66}, {'connected_gene': 'CR1', 'score': 1.99}, {'connected_gene': 'MIR29B2CHG', 'score': 0.37}, {'connected_gene': 'GC01P207829', 'score': 0.29}, {'connected_gene': 'PIR33548', 'score': 0.29}]
chr1 GH01I207841 207841647 207844455 0.52 [{'connected_gene': 'CD46', 'score': 17.03}, {'connected_gene': 'CD34', 'score': 10.45}, {'connected_gene': 'CR1L', 'score': 5.13}, {'connected_gene': 'GC01P207829', 'score': 0.34}, {'connected_gene': 'PIR33548', 'score': 0.34}, {'connected_gene': 'MIR29B2CHG', 'score': 0.31}]
chr1 GH01I207809 207809776 207810832 0.4 [{'connected_gene': 'CD46', 'score': 31.22}, {'connected_gene': 'CR1L', 'score': 5.14}, {'connected_gene': 'LOC148696', 'score': 0.44}, {'connected_gene': 'GC01M207807', 'score': 0.44}, {'connected_gene': 'MIR29B2CHG', 'score': 0.22}]
chr1 GH01I207830 207830575 207834199 1.25 [{'connected_gene': 'CD46', 'score': 28.3}, {'connected_gene': 'CR1L', 'score': 5.13}, {'connected_gene': 'GC01P207829', 'score': 0.39}, {'connected_gene': 'PIR33548', 'score': 0.39}, {'connected_gene': 'MIR29B2CHG', 'score': 0.28}]
chr1 GH01I207737 207737539 207739512 0.76 [{'connected_gene': 'CD46', 'score': 19.51}, {'connected_gene': 'CR1L', 'score': 5.26}, {'connected_gene': 'GC01P207741', 'score': 0.77}, {'connected_gene': 'GC01M207468', 'score': 0.34}]
chr1 GH01I207747 207747731 207754539 2.53 [{'connected_gene': 'CD46', 'score': 581.73}, {'connected_gene': 'CR1L', 'score': 5.31}, {'connected_gene': 'GC01P207741', 'score': 0.44}]
chr1 GH01I207712 207712796 207712945 0.31 [{'connected_gene': 'CD46', 'score': 8.68}, {'connected_gene': 'GC01M207468', 'score': 0.77}, {'connected_gene': 'LOC100422434', 'score': 0.77}, {'connected_gene': 'CR1L', 'score': 0.2}]
chr1 GH01I207816 207816676 207829145 2.33 [{'connected_gene': 'CD46', 'score': 33.85}, {'connected_gene': 'CDCA4P4', 'score': 12.72}, {'connected_gene': 'CD34', 'score': 10.98}, {'connected_gene': 'CR1', 'score': 8.15}, {'connected_gene': 'PLXNA2', 'score': 5.19}, {'connected_gene': 'CR1L', 'score': 4.66}, {'connected_gene': 'GC01P207829', 'score': 0.77}, {'connected_gene': 'LOC148696', 'score': 0.77}, {'connected_gene': 'PIR33548', 'score': 0.77}, {'connected_gene': 'MIR29B2CHG', 'score': 0.25}]
chr1 GH01I207648 207648455 207648607 0.78 [{'connected_gene': 'CR1L', 'score': 13.26}, {'connected_gene': 'C4BPA', 'score': 9.44}, {'connected_gene': 'CD46P1', 'score': 0.77}, {'connected_gene': 'CDCA4P3', 'score': 0.44}, {'connected_gene': 'GC01M207468', 'score': 0.2}]
chr1 GH01I207649 207649048 207650848 1.43 [{'connected_gene': 'CR1L', 'score': 23.12}, {'connected_gene': 'C4BPA', 'score': 9.44}, {'connected_gene': 'CR2', 'score': 4.27}, {'connected_gene': 'CD46P1', 'score': 0.77}, {'connected_gene': 'CDCA4P3', 'score': 0.44}, {'connected_gene': 'GC01M207468', 'score': 0.2}]
chr1 GH01I207644 207644476 207647108 2.17 [{'connected_gene': 'CR1L', 'score': 550.77}, {'connected_gene': 'CD46P1', 'score': 550.77}, {'connected_gene': 'C4BPA', 'score': 9.44}, {'connected_gene': 'CD46', 'score': 5.12}, {'connected_gene': 'CDCA4P3', 'score': 0.39}, {'connected_gene': 'GC01M207468', 'score': 0.2}]
chr1 GH01I207789 207789323 207791918 0.57 [{'connected_gene': 'CR1L', 'score': 5.15}, {'connected_gene': 'MIR29C', 'score': 0.39}, {'connected_gene': 'CDCA4P4', 'score': 0.31}, {'connected_gene': 'CD46', 'score': 0.28}, {'connected_gene': 'MIR29B2CHG', 'score': 0.18}]
chr1 GH01I207796 207796980 207798085 1.02 [{'connected_gene': 'CR1L', 'score': 5.14}, {'connected_gene': 'MIR29C', 'score': 0.77}, {'connected_gene': 'CDCA4P4', 'score': 0.29}, {'connected_gene': 'MIR29B2CHG', 'score': 0.19}]
chr1 GH01I207834 207834605 207837804 0.2 [{'connected_gene': 'CR1L', 'score': 5.12}, {'connected_gene': 'GC01P207829', 'score': 0.37}, {'connected_gene': 'PIR33548', 'score': 0.37}, {'connected_gene': 'MIR29B2CHG', 'score': 0.29}]
chr1 GH01I207838 207838006 207839473 1.14 [{'connected_gene': 'CR1L', 'score': 5.12}, {'connected_gene': 'GC01P207829', 'score': 0.37}, {'connected_gene': 'PIR33548', 'score': 0.37}, {'connected_gene': 'MIR29B2CHG', 'score': 0.29}]
chr1 GH01I207711 207711416 207711545 0.74 [{'connected_gene': 'LOC100422434', 'score': 550.77}, {'connected_gene': 'GC01M207468', 'score': 0.77}, {'connected_gene': 'CR1L', 'score': 0.2}]
chr1 GH01I207707 207707125 207708279 0.97 [{'connected_gene': 'RNA5SP534', 'score': 550.77}, {'connected_gene': 'CD46', 'score': 9.79}, {'connected_gene': 'GC01M207468', 'score': 0.44}, {'connected_gene': 'CDCA4P3', 'score': 0.25}, {'connected_gene': 'CR1L', 'score': 0.21}]
chr1 GH01I207698 207698956 207699105 0.8 [{'connected_gene': 'RNA5SP534', 'score': 0.44}, {'connected_gene': 'GC01M207468', 'score': 0.37}, {'connected_gene': 'CDCA4P3', 'score': 0.26}, {'connected_gene': 'CR1L', 'score': 0.23}]
chr1 GH01I207691 207691996 207692145 0.49 [{'connected_gene': 'RNA5SP534', 'score': 0.37}, {'connected_gene': 'GC01M207468', 'score': 0.34}, {'connected_gene': 'CDCA4P3', 'score': 0.29}, {'connected_gene': 'CR1L', 'score': 0.25}]