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
ENST00000053468 [[42174538, 42176110], [42176595, 42176685], [42178225, 42178334], [42179518, 42179655], [42181857, 42181930], [42182017, 42182082], [42185539, 42185603]] [[42176026, 42176110], [42176595, 42176685], [42178225, 42178334], [42179518, 42179655], [42181857, 42181930], [42182017, 42182082], [42185539, 42185587]]
NM_018141 [[42174538, 42176110], [42176595, 42176685], [42178225, 42178334], [42179518, 42179655], [42181857, 42181930], [42182017, 42182082], [42185539, 42185633]] [[42176026, 42176110], [42176595, 42176685], [42178225, 42178334], [42179518, 42179655], [42181857, 42181930], [42182017, 42182082], [42185539, 42185587]]
Promoter
Chrom Start End Description
chr6 42185583 42185618 CAGE_peak_1_at_MRPS10_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I042260 42260370 42261599 1.26 [{'connected_gene': 'CUL7', 'score': 12.1}, {'connected_gene': 'RPL24P4', 'score': 10.94}, {'connected_gene': 'MED20', 'score': 10.3}, {'connected_gene': 'BICRAL', 'score': 10.07}, {'connected_gene': 'MRPS10', 'score': 8.05}, {'connected_gene': 'LOC105375061', 'score': 0.31}, {'connected_gene': 'GC06M042412', 'score': 0.1}, {'connected_gene': 'TRERF1', 'score': 0.08}]
chr6 GH06I042219 42219549 42219956 0.2 [{'connected_gene': 'MRPS10', 'score': 565.99}, {'connected_gene': 'MED20', 'score': 9.48}, {'connected_gene': 'BYSL', 'score': 9.48}, {'connected_gene': 'ENSG00000207371', 'score': 9.48}, {'connected_gene': 'PIR36094', 'score': 0.44}]
chr6 GH06I042216 42216272 42218513 2.27 [{'connected_gene': 'MRPS10', 'score': 598.33}, {'connected_gene': 'RRP36', 'score': 11.37}, {'connected_gene': 'GUCA1B', 'score': 0.39}]
chr6 GH06I042221 42221183 42222357 0.66 [{'connected_gene': 'MRPS10', 'score': 13.95}, {'connected_gene': 'BYSL', 'score': 9.48}, {'connected_gene': 'ENSG00000207371', 'score': 9.48}, {'connected_gene': 'MED20', 'score': 9.48}, {'connected_gene': 'PIR36094', 'score': 0.44}]
chr6 GH06I042210 42210223 42211427 0.77 [{'connected_gene': 'MRPS10', 'score': 47.79}, {'connected_gene': 'RPL24P4', 'score': 11.12}, {'connected_gene': 'CUL7', 'score': 10.37}, {'connected_gene': 'PTK7', 'score': 10.29}, {'connected_gene': 'GUCA1B', 'score': 0.77}]
chr6 GH06I042212 42212815 42213275 0.31 [{'connected_gene': 'MRPS10', 'score': 14.37}, {'connected_gene': 'GUCA1B', 'score': 0.44}]
chr6 GH06I042214 42214383 42215200 1.3 [{'connected_gene': 'MRPS10', 'score': 48.32}, {'connected_gene': 'GUCA1B', 'score': 0.44}]
chr6 GH06I042211 42211676 42212469 0.52 [{'connected_gene': 'MRPS10', 'score': 47.9}, {'connected_gene': 'GUCA1B', 'score': 0.44}]
chr6 GH06I042193 42193401 42193800 0.46 [{'connected_gene': 'MRPS10', 'score': 15.81}, {'connected_gene': 'GUCA1B', 'score': 0.39}, {'connected_gene': 'ENSG00000214732', 'score': 0.28}]
chr6 GH06I042196 42196659 42201362 1.27 [{'connected_gene': 'MRPS10', 'score': 48.41}, {'connected_gene': 'GUCA1A', 'score': 11.28}, {'connected_gene': 'ENSG00000214732', 'score': 11.28}, {'connected_gene': 'ENSG00000207371', 'score': 8.86}, {'connected_gene': 'MED20', 'score': 8.86}, {'connected_gene': 'BYSL', 'score': 8.86}, {'connected_gene': 'GUCA1B', 'score': 0.44}]
chr6 GH06I042190 42190403 42191457 0.7 [{'connected_gene': 'MRPS10', 'score': 47.67}, {'connected_gene': 'GUCA1A', 'score': 11.36}, {'connected_gene': 'ENSG00000214732', 'score': 11.36}, {'connected_gene': 'C6orf132', 'score': 11.3}, {'connected_gene': 'GUCA1B', 'score': 0.37}]
chr6 GH06I042164 42164107 42164292 0.2 [{'connected_gene': 'MRPS10', 'score': 32.75}, {'connected_gene': 'GUCA1A', 'score': 0.44}, {'connected_gene': 'ENSG00000214732', 'score': 0.44}, {'connected_gene': 'GUCA1B', 'score': 0.26}]
chr6 GH06I042177 42177603 42179000 0.69 [{'connected_gene': 'MRPS10', 'score': 15.27}, {'connected_gene': 'GUCA1A', 'score': 12.12}, {'connected_gene': 'ENSG00000214732', 'score': 12.12}, {'connected_gene': 'GUCA1B', 'score': 0.31}]
chr6 GH06I042166 42166063 42167472 1.13 [{'connected_gene': 'MRPS10', 'score': 34.31}, {'connected_gene': 'UBR2', 'score': 13.39}, {'connected_gene': 'BICRAL', 'score': 12.98}, {'connected_gene': 'RRP36', 'score': 9.93}, {'connected_gene': 'TAF8', 'score': 9.85}, {'connected_gene': 'GUCA1A', 'score': 0.39}, {'connected_gene': 'ENSG00000214732', 'score': 0.39}, {'connected_gene': 'GUCA1B', 'score': 0.28}]
chr6 GH06I042256 42256808 42258268 0.74 [{'connected_gene': 'MRPS10', 'score': 9.33}, {'connected_gene': 'LOC105375061', 'score': 0.34}, {'connected_gene': 'GC06M042412', 'score': 0.1}, {'connected_gene': 'TRERF1', 'score': 0.08}]
chr6 GH06I042204 42204031 42205595 0.91 [{'connected_gene': 'GUCA1B', 'score': 550.77}, {'connected_gene': 'MRPS10', 'score': 47.75}, {'connected_gene': 'GUCA1A', 'score': 11.14}, {'connected_gene': 'ENSG00000214732', 'score': 11.14}]
chr6 GH06I042242 42242334 42243707 0.43 [{'connected_gene': 'GUCA1B', 'score': 10.66}, {'connected_gene': 'MRPS10', 'score': 10.33}, {'connected_gene': 'LOC105375061', 'score': 0.44}, {'connected_gene': 'GC06M042412', 'score': 0.1}, {'connected_gene': 'TRERF1', 'score': 0.08}]
chr6 GH06I042241 42241814 42242205 0.51 [{'connected_gene': 'GUCA1B', 'score': 10.66}, {'connected_gene': 'MRPS10', 'score': 9.62}, {'connected_gene': 'LOC105375061', 'score': 0.44}, {'connected_gene': 'GC06M042412', 'score': 0.09}, {'connected_gene': 'TRERF1', 'score': 0.08}]
chr6 GH06I042230 42230481 42232038 0.69 [{'connected_gene': 'GUCA1B', 'score': 10.97}, {'connected_gene': 'MRPS10', 'score': 10.29}, {'connected_gene': 'LOC105375061', 'score': 0.77}, {'connected_gene': 'PIR36094', 'score': 0.77}, {'connected_gene': 'TRERF1', 'score': 0.07}]
chr6 GH06I042238 42238580 42240781 0.8 [{'connected_gene': 'GUCA1B', 'score': 10.68}, {'connected_gene': 'MRPS10', 'score': 10.19}, {'connected_gene': 'LOC105375061', 'score': 0.44}, {'connected_gene': 'GC06M042412', 'score': 0.09}, {'connected_gene': 'TRERF1', 'score': 0.08}]
chr6 GH06I042250 42250042 42253816 1.15 [{'connected_gene': 'GUCA1B', 'score': 10.72}, {'connected_gene': 'GUCA1A', 'score': 10.49}, {'connected_gene': 'ENSG00000214732', 'score': 10.49}, {'connected_gene': 'MRPS10', 'score': 10.15}, {'connected_gene': 'LOC105375061', 'score': 0.37}, {'connected_gene': 'GC06M042412', 'score': 0.1}, {'connected_gene': 'TRERF1', 'score': 0.08}]
chr6 GH06I042276 42276001 42277567 0.71 [{'connected_gene': 'GUCA1B', 'score': 10.7}, {'connected_gene': 'GUCA1A', 'score': 10.33}, {'connected_gene': 'ENSG00000214732', 'score': 10.33}, {'connected_gene': 'TAF8', 'score': 7.07}, {'connected_gene': 'MRPS10', 'score': 4.67}, {'connected_gene': 'LOC105375061', 'score': 0.26}, {'connected_gene': 'GC06M042412', 'score': 0.12}, {'connected_gene': 'TRERF1', 'score': 0.1}]
chr6 GH06I042223 42223863 42229740 1.41 [{'connected_gene': 'PIR36094', 'score': 550.77}, {'connected_gene': 'MRPS10', 'score': 43.22}, {'connected_gene': 'GUCA1B', 'score': 11.43}, {'connected_gene': 'GUCA1A', 'score': 10.71}, {'connected_gene': 'ENSG00000214732', 'score': 10.71}, {'connected_gene': 'C6orf132', 'score': 10.26}, {'connected_gene': 'TRERF1', 'score': 0.07}]