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
ENST00000557842 [[89054789, 89054817], [89055581, 89056371], [89060012, 89060204], [89070829, 89071017], [89073853, 89074704], [89074843, 89074946], [89089770, 89089876]] [[89074593, 89074704], [89074843, 89074936]]
ENST00000444300 [[89055713, 89056371], [89060012, 89060204], [89070829, 89071017], [89073853, 89074946], [89079542, 89079565]] [[89056181, 89056371], [89060012, 89060204], [89070829, 89071017], [89073853, 89074946], [89079542, 89079565]]
ENST00000564406 [[89055713, 89056371], [89060012, 89060204], [89070829, 89071017], [89073853, 89074946], [89079542, 89079612], [89089770, 89089884]] [[89056181, 89056371], [89060012, 89060204], [89070829, 89071017], [89073853, 89074946], [89079542, 89079565]]
ENST00000557837 [[89055713, 89056371], [89060012, 89060204], [89073853, 89074704], [89074843, 89074946], [89089770, 89089891]] [[89074593, 89074704], [89074843, 89074936]]
ENST00000268148 [[89055713, 89056371], [89060012, 89060204], [89070829, 89071017], [89073853, 89074946], [89089770, 89089906]] [[89056181, 89056371], [89060012, 89060204], [89070829, 89071017], [89073853, 89074936]]
ENST00000558413 [[89074003, 89074207], [89074527, 89074704], [89074839, 89074946], [89089770, 89089865]] [[89074196, 89074207], [89074527, 89074704], [89074839, 89074936]]
ENST00000559656 [[89075098, 89075159], [89089468, 89089568]] None
NR_135742 [[89045154, 89046040], [89054662, 89054817], [89055581, 89056371], [89060012, 89060204], [89070829, 89071017], [89073853, 89074946], [89089770, 89089934]] None
NR_135739 [[89054782, 89054817], [89055581, 89056371], [89060012, 89060204], [89070829, 89071017], [89073853, 89074704], [89074843, 89074946], [89089770, 89089934]] None
NR_135743 [[89055710, 89056371], [89060012, 89060204], [89070829, 89071017], [89073853, 89074704], [89074843, 89074946], [89079542, 89079612], [89087841, 89087925], [89089494, 89089606]] None
NM_001321596 [[89055710, 89056371], [89060012, 89060204], [89070829, 89071017], [89073853, 89074946], [89087841, 89087925], [89089494, 89089606]] [[89056181, 89056371], [89060012, 89060204], [89070829, 89071017], [89073853, 89074936]]
NR_135744 [[89055710, 89056371], [89060012, 89060204], [89070829, 89071017], [89073853, 89074704], [89074843, 89074946], [89087841, 89087925], [89089494, 89089606]] None
NM_017996 [[89055710, 89056371], [89060012, 89060204], [89070829, 89071017], [89073853, 89074946], [89079542, 89079612], [89089770, 89089934]] [[89056181, 89056371], [89060012, 89060204], [89070829, 89071017], [89073853, 89074946], [89079542, 89079565]]
NM_001321594 [[89055710, 89056371], [89060012, 89060204], [89070829, 89071017], [89073853, 89074704], [89074839, 89074946], [89079542, 89079612], [89089770, 89089934]] [[89056181, 89056371], [89060012, 89060204], [89070829, 89071017], [89073853, 89074704], [89074839, 89074946], [89079542, 89079565]]
NR_135741 [[89055710, 89056371], [89060012, 89060204], [89070829, 89071017], [89074843, 89074946], [89079542, 89079612], [89089770, 89089934]] None
NM_001144074 [[89055710, 89056371], [89060012, 89060204], [89070829, 89071017], [89073853, 89074946], [89089770, 89089934]] [[89056181, 89056371], [89060012, 89060204], [89070829, 89071017], [89073853, 89074936]]
NR_026645 [[89055710, 89056371], [89060012, 89060204], [89073853, 89074704], [89074843, 89074946], [89089770, 89089934]] None
NR_135740 [[89055710, 89056371], [89060012, 89060204], [89070829, 89071017], [89074843, 89074946], [89089770, 89089934]] None
Promoter
Chrom Start End Description
chr15 89089860 89089918 CAGE_peak_1_at_DET1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr15 GH15I088545 88545600 88547376 2.03 [{'connected_gene': 'DET1', 'score': 559.1}, {'connected_gene': 'POLG', 'score': 25.05}, {'connected_gene': 'FANCI', 'score': 12.52}, {'connected_gene': 'ENSG00000173867', 'score': 4.83}, {'connected_gene': 'PIR61736', 'score': 0.77}]
chr15 GH15I087751 87751736 87753412 0.92 [{'connected_gene': 'DET1', 'score': 11.0}, {'connected_gene': 'GC15P087758', 'score': 0.44}, {'connected_gene': 'LOC102724465', 'score': 0.25}]
chr15 GH15I088537 88537256 88538144 0.65 [{'connected_gene': 'DET1', 'score': 8.69}, {'connected_gene': 'LINC01586', 'score': 6.48}, {'connected_gene': 'PIR61736', 'score': 0.44}, {'connected_gene': 'ENSG00000173867', 'score': 0.31}]
chr15 GH15I088536 88535155 88535214 0.73 [{'connected_gene': 'DET1', 'score': 550.39}, {'connected_gene': 'PIR61736', 'score': 0.44}, {'connected_gene': 'ENSG00000173867', 'score': 0.34}]
chr15 GH15I088538 88538201 88540621 0.86 [{'connected_gene': 'DET1', 'score': 10.52}, {'connected_gene': 'ENSG00000173867', 'score': 4.96}, {'connected_gene': 'PIR61736', 'score': 0.77}]
chr15 GH15I088547 88547570 88547628 0.2 [{'connected_gene': 'DET1', 'score': 550.77}, {'connected_gene': 'ENSG00000259569', 'score': 0.34}]
chr15 GH15I088562 88562862 88564412 0.84 [{'connected_gene': 'POLG', 'score': 12.8}, {'connected_gene': 'FANCI', 'score': 12.53}, {'connected_gene': 'LINC01586', 'score': 7.32}, {'connected_gene': 'ISG20', 'score': 4.78}, {'connected_gene': 'ENSG00000173867', 'score': 4.78}, {'connected_gene': 'ENSG00000259569', 'score': 0.77}, {'connected_gene': 'DET1', 'score': 0.37}]
chr15 GH15I089124 89124978 89141178 1.74 [{'connected_gene': 'ABHD2', 'score': 37.68}, {'connected_gene': 'LOC102724566', 'score': 10.78}, {'connected_gene': 'DET1', 'score': 6.08}, {'connected_gene': 'ISG20', 'score': 1.35}, {'connected_gene': 'HMGB1P8', 'score': 0.77}, {'connected_gene': 'GC15M089136', 'score': 0.77}, {'connected_gene': 'RNU7-195P', 'score': 0.39}]
chr15 GH15I089383 89383250 89384159 1.12 [{'connected_gene': 'RPL36AP43', 'score': 76.42}, {'connected_gene': 'NIFKP5', 'score': 74.01}, {'connected_gene': 'ENSG00000173867', 'score': 53.41}, {'connected_gene': 'ARPIN', 'score': 44.74}, {'connected_gene': 'ENSG00000228998', 'score': 18.96}, {'connected_gene': 'POLG', 'score': 11.22}, {'connected_gene': 'WDR93', 'score': 10.9}, {'connected_gene': 'DET1', 'score': 9.75}, {'connected_gene': 'MIR9-3HG', 'score': 9.02}, {'connected_gene': 'GC15P089381', 'score': 0.77}, {'connected_gene': 'PIR56199', 'score': 0.39}]
chr15 GH15I088541 88541380 88544245 0.82 [{'connected_gene': 'PIR61736', 'score': 550.77}, {'connected_gene': 'DET1', 'score': 11.09}, {'connected_gene': 'ENSG00000173867', 'score': 4.94}]
chr15 GH15I088535 88535999 88536920 0.82 [{'connected_gene': 'PIR61736', 'score': 0.44}, {'connected_gene': 'DET1', 'score': 0.39}, {'connected_gene': 'ENSG00000173867', 'score': 0.34}]
chr15 GH15I089412 89412870 89413666 0.49 [{'connected_gene': 'ENSG00000173867', 'score': 19.85}, {'connected_gene': 'RPL36AP43', 'score': 13.69}, {'connected_gene': 'MIR9-3', 'score': 12.36}, {'connected_gene': 'MIR9-3HG', 'score': 12.35}, {'connected_gene': 'KIF7', 'score': 12.28}, {'connected_gene': 'DET1', 'score': 12.03}, {'connected_gene': 'ARPIN', 'score': 10.07}, {'connected_gene': 'GC15M089390', 'score': 0.39}, {'connected_gene': 'LOC105371031', 'score': 0.39}]
chr15 GH15I089204 89204503 89205625 0.31 [{'connected_gene': 'GC15P089217', 'score': 550.77}, {'connected_gene': 'GC15P089216', 'score': 550.77}, {'connected_gene': 'GC15P089215', 'score': 550.77}, {'connected_gene': 'ENSG00000173867', 'score': 19.85}, {'connected_gene': 'RPL36AP43', 'score': 13.67}, {'connected_gene': 'KIF7', 'score': 12.26}, {'connected_gene': 'DET1', 'score': 12.04}, {'connected_gene': 'FANCI', 'score': 11.87}, {'connected_gene': 'ARPIN', 'score': 10.05}, {'connected_gene': 'POLG', 'score': 9.98}]