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
ENST00000343813 [[6281252, 6285322], [6291961, 6292179], [6293533, 6293703], [6294945, 6295034], [6295776, 6296000]] [[6285139, 6285322], [6291961, 6292179], [6293533, 6293703], [6294945, 6295034], [6295776, 6295971]]
ENST00000489498 [[6283550, 6285322], [6291961, 6292179], [6293533, 6293703], [6294464, 6294571], [6294945, 6295034], [6295776, 6296032]] [[6294504, 6294571], [6294945, 6295034], [6295776, 6295971]]
ENST00000474756 [[6284658, 6285322], [6291961, 6292179], [6294945, 6295034], [6295776, 6296032]] [[6292178, 6292179], [6294945, 6295034], [6295776, 6295971]]
ENST00000495791 [[6281957, 6282220], [6283497, 6283562]] None
ENST00000362035 [[6294504, 6294571], [6294945, 6295034], [6295776, 6296000]] [[6294504, 6294571], [6294945, 6295034], [6295776, 6295971]]
NM_012405 [[6281252, 6285322], [6291961, 6292179], [6293533, 6293703], [6294945, 6295034], [6295776, 6296044]] [[6285139, 6285322], [6291961, 6292179], [6293533, 6293703], [6294945, 6295034], [6295776, 6295971]]
Promoter
Chrom Start End Description
chr1 6295975 6296003 CAGE_peak_2_at_ICMT_5end
chr1 6296005 6296070 CAGE_peak_1_at_ICMT_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I006170 6170642 6172200 0.93 [{'connected_gene': 'CHD5', 'score': 21.31}, {'connected_gene': 'KCNAB2', 'score': 12.24}, {'connected_gene': 'RNF207', 'score': 9.96}, {'connected_gene': 'ICMT', 'score': 4.84}, {'connected_gene': 'PLEKHG5', 'score': 1.57}, {'connected_gene': 'LOC105376687', 'score': 0.28}]
chr1 GH01I006293 6293628 6295795 0.99 [{'connected_gene': 'ESPN', 'score': 17.97}, {'connected_gene': 'THAP3', 'score': 14.88}, {'connected_gene': 'NOL9', 'score': 12.33}, {'connected_gene': 'LINC00337', 'score': 11.71}, {'connected_gene': 'ICMT', 'score': 11.71}, {'connected_gene': 'NPHP4', 'score': 9.9}, {'connected_gene': 'ZBTB48', 'score': 3.67}, {'connected_gene': 'GPR153', 'score': 2.23}, {'connected_gene': 'ACOT7', 'score': 1.52}, {'connected_gene': 'GC01P006262', 'score': 0.29}, {'connected_gene': 'ENSG00000271746', 'score': 0.15}]
chr1 GH01I006412 6412832 6417164 1.12 [{'connected_gene': 'ESPN', 'score': 26.49}, {'connected_gene': 'RNF207', 'score': 19.47}, {'connected_gene': 'LINC00337', 'score': 11.71}, {'connected_gene': 'ICMT', 'score': 11.71}, {'connected_gene': 'HES3', 'score': 11.71}, {'connected_gene': 'PLEKHG5', 'score': 11.13}, {'connected_gene': 'LOC102724450', 'score': 10.81}, {'connected_gene': 'RPL22', 'score': 10.81}, {'connected_gene': 'CAMTA1', 'score': 10.81}, {'connected_gene': 'CHD5', 'score': 10.31}, {'connected_gene': 'ACOT7', 'score': 5.7}, {'connected_gene': 'HES2', 'score': 0.44}, {'connected_gene': 'GC01M006398', 'score': 0.37}]
chr1 GH01I006352 6352952 6355256 1.11 [{'connected_gene': 'ESPN', 'score': 18.88}, {'connected_gene': 'LINC00337', 'score': 11.9}, {'connected_gene': 'ICMT', 'score': 11.9}, {'connected_gene': 'ENSG00000271746', 'score': 0.28}, {'connected_gene': 'ACOT7', 'score': 0.26}, {'connected_gene': 'GC01P006262', 'score': 0.16}]
chr1 GH01I006356 6356122 6356694 0.43 [{'connected_gene': 'ESPN', 'score': 16.98}, {'connected_gene': 'LINC00337', 'score': 11.9}, {'connected_gene': 'ICMT', 'score': 11.9}, {'connected_gene': 'ENSG00000271746', 'score': 0.28}, {'connected_gene': 'ACOT7', 'score': 0.28}, {'connected_gene': 'GC01P006262', 'score': 0.15}]
chr1 GH01I006355 6355743 6356031 0.2 [{'connected_gene': 'ESPN', 'score': 17.62}, {'connected_gene': 'LINC00337', 'score': 11.9}, {'connected_gene': 'ICMT', 'score': 11.9}, {'connected_gene': 'ENSG00000271746', 'score': 0.28}, {'connected_gene': 'ACOT7', 'score': 0.28}, {'connected_gene': 'GC01P006262', 'score': 0.16}]
chr1 GH01I006208 6208607 6209838 1.34 [{'connected_gene': 'RPL22', 'score': 550.77}, {'connected_gene': 'RNF207', 'score': 12.8}, {'connected_gene': 'ICMT', 'score': 9.23}, {'connected_gene': 'LOC102724450', 'score': 0.77}]
chr1 GH01I006259 6259681 6264315 2.35 [{'connected_gene': 'GPR153', 'score': 572.89}, {'connected_gene': 'GC01P006262', 'score': 550.77}, {'connected_gene': 'ICMT', 'score': 18.67}, {'connected_gene': 'LINC00337', 'score': 12.7}, {'connected_gene': 'RPL22', 'score': 10.53}, {'connected_gene': 'RNF207', 'score': 10.52}, {'connected_gene': 'LOC102724450', 'score': 10.52}, {'connected_gene': 'CHD5', 'score': 10.52}, {'connected_gene': 'NOL9', 'score': 10.26}, {'connected_gene': 'THAP3', 'score': 1.99}, {'connected_gene': 'ACOT7', 'score': 0.12}, {'connected_gene': 'ENSG00000271746', 'score': 0.12}]
chr1 GH01I006238 6238037 6242725 1.24 [{'connected_gene': 'GPR153', 'score': 11.29}, {'connected_gene': 'LINC00337', 'score': 10.36}, {'connected_gene': 'ICMT', 'score': 5.27}, {'connected_gene': 'HES3', 'score': 0.77}]
chr1 GH01I006223 6223973 6225851 0.63 [{'connected_gene': 'ICMT', 'score': 13.04}, {'connected_gene': 'CHD5', 'score': 11.32}, {'connected_gene': 'RPL22', 'score': 0.37}]
chr1 GH01I006222 6222047 6223678 0.51 [{'connected_gene': 'ICMT', 'score': 20.16}, {'connected_gene': 'HES3', 'score': 12.22}, {'connected_gene': 'CHD5', 'score': 10.97}, {'connected_gene': 'LINC00337', 'score': 6.4}, {'connected_gene': 'RPL22', 'score': 0.39}]
chr1 GH01I006218 6218986 6221891 0.92 [{'connected_gene': 'ICMT', 'score': 20.17}, {'connected_gene': 'HES3', 'score': 12.22}, {'connected_gene': 'CHD5', 'score': 10.97}, {'connected_gene': 'LINC00337', 'score': 9.89}, {'connected_gene': 'RNF207', 'score': 0.39}, {'connected_gene': 'RPL22', 'score': 0.39}]
chr1 GH01I006247 6246781 6246990 1.06 [{'connected_gene': 'ICMT', 'score': 7.13}, {'connected_gene': 'HES3', 'score': 0.77}, {'connected_gene': 'GPR153', 'score': 0.39}]
chr1 GH01I007208 7208021 7208150 0.72 [{'connected_gene': 'ICMT', 'score': 4.51}, {'connected_gene': 'GC01M007197', 'score': 0.44}, {'connected_gene': 'GC01P007219', 'score': 0.39}, {'connected_gene': 'CAMTA1', 'score': 0.05}]
chr1 GH01I006233 6233275 6236706 2.02 [{'connected_gene': 'ICMT', 'score': 568.99}, {'connected_gene': 'LINC00337', 'score': 562.66}, {'connected_gene': 'ZBTB48', 'score': 21.74}, {'connected_gene': 'RPL22', 'score': 11.28}, {'connected_gene': 'THAP3', 'score': 11.15}, {'connected_gene': 'NOL9', 'score': 10.08}, {'connected_gene': 'GPR153', 'score': 7.82}, {'connected_gene': 'RNF207', 'score': 5.4}]
chr1 GH01I006357 6357360 6361604 1.89 [{'connected_gene': 'ACOT7', 'score': 554.72}, {'connected_gene': 'ESPN', 'score': 17.98}, {'connected_gene': 'LINC00337', 'score': 11.9}, {'connected_gene': 'ICMT', 'score': 11.9}, {'connected_gene': 'ENSG00000271746', 'score': 0.29}, {'connected_gene': 'GC01P006262', 'score': 0.15}]