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
ENST00000606893 [[110501343, 110501383], [110501586, 110501836], [110514384, 110514471], [110522760, 110522890], [110528708, 110528792], [110530286, 110530426], [110531909, 110533475], [110534288, 110534363], [110536488, 110536534], [110538904, 110539006], [110540566, 110540682], [110540938, 110541072], [110547369, 110547446], [110550034, 110550179], [110551156, 110551536]] None
ENST00000368932 [[110501343, 110501383], [110501586, 110501836], [110514384, 110514471], [110522760, 110522890], [110528708, 110528792], [110530286, 110530426], [110531909, 110532006], [110533335, 110533475], [110534288, 110534363], [110536488, 110536534], [110538904, 110539006], [110540566, 110540682], [110540938, 110541072], [110547369, 110547446], [110550034, 110550179], [110551156, 110553420]] [[110501647, 110501836], [110514384, 110514471], [110522760, 110522890], [110528708, 110528792], [110530286, 110530426], [110531909, 110532006], [110533335, 110533475], [110534288, 110534363], [110536488, 110536534], [110538904, 110539006], [110540566, 110540682], [110540938, 110541072], [110547369, 110547446], [110550034, 110550179], [110551156, 110551334]]
ENST00000307731 [[110501623, 110501836], [110514384, 110514471], [110522760, 110522890], [110528708, 110528792], [110530286, 110530426], [110531909, 110532006], [110533335, 110533475], [110534288, 110534363], [110536488, 110536534], [110538904, 110539006], [110540566, 110540682], [110540938, 110541072], [110547369, 110547446], [110550034, 110550179], [110551156, 110553418]] [[110501647, 110501836], [110514384, 110514471], [110522760, 110522890], [110528708, 110528792], [110530286, 110530426], [110531909, 110532006], [110533335, 110533475], [110534288, 110534363], [110536488, 110536534], [110538904, 110539006], [110540566, 110540682], [110540938, 110541072], [110547369, 110547446], [110550034, 110550179], [110551156, 110551334]]
ENST00000368930 [[110501623, 110501836], [110514384, 110514471], [110522760, 110522890], [110528708, 110528792], [110530286, 110530426], [110531909, 110532006], [110533335, 110533475], [110534288, 110534363], [110536488, 110536534], [110538904, 110539006], [110540566, 110540682], [110540938, 110541072], [110547369, 110547446], [110550034, 110550179], [110575087, 110575478]] [[110501647, 110501836], [110514384, 110514471], [110522760, 110522890], [110528708, 110528792], [110530286, 110530426], [110531909, 110532006], [110533335, 110533475], [110534288, 110534363], [110536488, 110536534], [110538904, 110539006], [110540566, 110540682], [110540938, 110541072], [110547369, 110547446], [110550034, 110550179], [110575087, 110575145]]
ENST00000453107 [[110520177, 110520240], [110522760, 110522890], [110528708, 110528792], [110530286, 110530315]] None
ENST00000431461 [[110522807, 110522890], [110528708, 110528792], [110530286, 110530519]] None
ENST00000445340 [[110545498, 110545635], [110552654, 110552874]] None
NM_015891 [[110501623, 110501836], [110514384, 110514471], [110522760, 110522890], [110528708, 110528792], [110530286, 110530426], [110531909, 110532006], [110533335, 110533475], [110534288, 110534363], [110536488, 110536534], [110538904, 110539006], [110540566, 110540682], [110540938, 110541072], [110547369, 110547446], [110550034, 110550179], [110551156, 110553423]] [[110501647, 110501836], [110514384, 110514471], [110522760, 110522890], [110528708, 110528792], [110530286, 110530426], [110531909, 110532006], [110533335, 110533475], [110534288, 110534363], [110536488, 110536534], [110538904, 110539006], [110540566, 110540682], [110540938, 110541072], [110547369, 110547446], [110550034, 110550179], [110551156, 110551334]]
Promoter
Chrom Start End Description
chr6 110501376 110501412 CAGE_peak_4_at_CDC40_5end
chr6 110501592 110501614 CAGE_peak_2_at_CDC40_5end
chr6 110501621 110501639 CAGE_peak_1_at_CDC40_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I110135 110135387 110135748 0.26 [{'connected_gene': 'WASF1', 'score': 21.67}, {'connected_gene': 'METTL24', 'score': 3.59}, {'connected_gene': 'CDC40', 'score': 3.02}, {'connected_gene': 'PIR45173', 'score': 0.44}, {'connected_gene': 'GC06P110094', 'score': 0.26}]
chr6 GH06I110178 110178400 110182583 2.34 [{'connected_gene': 'WASF1', 'score': 568.91}, {'connected_gene': 'CDC40', 'score': 555.04}, {'connected_gene': 'ZBTB24', 'score': 24.5}, {'connected_gene': 'CD164', 'score': 11.12}, {'connected_gene': 'SMPD2', 'score': 10.9}, {'connected_gene': 'CNN2P9', 'score': 10.12}, {'connected_gene': 'FIG4', 'score': 1.54}]
chr6 GH06I110183 110183401 110183600 0.38 [{'connected_gene': 'WASF1', 'score': 17.56}, {'connected_gene': 'CDC40', 'score': 0.77}]
chr6 GH06I110211 110211898 110212047 0.52 [{'connected_gene': 'WASF1', 'score': 0.34}, {'connected_gene': 'LOC105377937', 'score': 0.31}, {'connected_gene': 'CDC40', 'score': 0.29}]
chr6 GH06I110295 110295966 110296137 0.42 [{'connected_gene': 'DDO', 'score': 9.04}, {'connected_gene': 'WASF1', 'score': 5.91}, {'connected_gene': 'CDC40', 'score': 4.22}, {'connected_gene': 'METTL24', 'score': 1.4}, {'connected_gene': 'GC06M110279', 'score': 0.39}, {'connected_gene': 'LOC102724586', 'score': 0.28}]
chr6 GH06I110981 110981000 110983657 2.07 [{'connected_gene': 'RPF2', 'score': 559.7}, {'connected_gene': 'CDC40', 'score': 12.46}, {'connected_gene': 'GTF3C6', 'score': 12.07}, {'connected_gene': 'RNU6-957P', 'score': 9.44}, {'connected_gene': 'GC06M111009', 'score': 0.31}]
chr6 GH06I109771 109771208 109773820 1.34 [{'connected_gene': 'SMPD2', 'score': 14.04}, {'connected_gene': 'ZBTB24', 'score': 10.8}, {'connected_gene': 'CEP57L1', 'score': 10.73}, {'connected_gene': 'FIG4', 'score': 10.11}, {'connected_gene': 'ENSG00000260273', 'score': 9.97}, {'connected_gene': 'CCDC162P', 'score': 8.49}, {'connected_gene': 'MICAL1', 'score': 3.23}, {'connected_gene': 'CDC40', 'score': 1.78}, {'connected_gene': 'AK9', 'score': 1.48}, {'connected_gene': 'CD164', 'score': 1.25}, {'connected_gene': 'GC06M109753', 'score': 0.37}, {'connected_gene': 'ENSG00000232311', 'score': 0.23}]
chr6 GH06I110873 110873253 110879857 2.58 [{'connected_gene': 'AMD1', 'score': 558.54}, {'connected_gene': 'MFSD4B', 'score': 41.23}, {'connected_gene': 'ENSG00000220506', 'score': 31.34}, {'connected_gene': 'BRD7P4', 'score': 19.45}, {'connected_gene': 'RPF2', 'score': 19.14}, {'connected_gene': 'CDK19', 'score': 19.02}, {'connected_gene': 'CNN2P9', 'score': 18.83}, {'connected_gene': 'FCF1P5', 'score': 18.46}, {'connected_gene': 'GTF3C6', 'score': 11.48}, {'connected_gene': 'RNU6-957P', 'score': 11.06}, {'connected_gene': 'ENSG00000272356', 'score': 10.09}, {'connected_gene': 'CDC40', 'score': 9.86}, {'connected_gene': 'SLC16A10', 'score': 7.15}, {'connected_gene': 'ENSG00000271607', 'score': 0.39}, {'connected_gene': 'GC06P110895', 'score': 0.37}]
chr6 GH06I110813 110813256 110817357 2.12 [{'connected_gene': 'CDK19', 'score': 560.97}, {'connected_gene': 'AMD1', 'score': 558.45}, {'connected_gene': 'MFSD4B', 'score': 32.59}, {'connected_gene': 'ENSG00000220506', 'score': 30.95}, {'connected_gene': 'FCF1P5', 'score': 18.8}, {'connected_gene': 'RPF2', 'score': 15.76}, {'connected_gene': 'CNN2P9', 'score': 10.35}, {'connected_gene': 'BRD7P4', 'score': 10.06}, {'connected_gene': 'CDC40', 'score': 9.86}]
chr6 GH06I109379 109379218 109385489 2.33 [{'connected_gene': 'ENSG00000260273', 'score': 565.43}, {'connected_gene': 'CD164', 'score': 550.77}, {'connected_gene': 'ZBTB24', 'score': 52.31}, {'connected_gene': 'SMPD2', 'score': 32.79}, {'connected_gene': 'MICAL1', 'score': 13.55}, {'connected_gene': 'AK9', 'score': 12.44}, {'connected_gene': 'PPIL6', 'score': 11.82}, {'connected_gene': 'ENSG00000233908', 'score': 10.45}, {'connected_gene': 'PTCHD3P3', 'score': 10.45}, {'connected_gene': 'CCDC162P', 'score': 10.37}, {'connected_gene': 'LOC105377935', 'score': 10.11}, {'connected_gene': 'CDC40', 'score': 9.86}, {'connected_gene': 'ENSG00000271730', 'score': 9.69}, {'connected_gene': 'FIG4', 'score': 5.38}, {'connected_gene': 'LOC101927538', 'score': 0.29}]
chr6 GH06I110285 110285064 110285221 0.5 [{'connected_gene': 'GC06M110279', 'score': 550.77}, {'connected_gene': 'CDC40', 'score': 16.69}, {'connected_gene': 'WASF1', 'score': 15.28}, {'connected_gene': 'LOC102724586', 'score': 0.23}, {'connected_gene': 'METTL24', 'score': 0.19}]