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
ENST00000265462 [[64085559, 64085858], [64087205, 64087340], [64088132, 64088264], [64088336, 64088375], [64088478, 64088540], [64089057, 64089283]] [[64085687, 64085858], [64087205, 64087340], [64088132, 64088264], [64088336, 64088375], [64088478, 64088540], [64089057, 64089163]]
ENST00000352435 [[64085653, 64085858], [64087205, 64087340], [64088336, 64088375], [64088478, 64088540], [64089057, 64089212]] [[64085687, 64085858], [64087205, 64087340], [64088336, 64088375], [64088478, 64088540], [64089057, 64089163]]
ENST00000347941 [[64085653, 64085858], [64088336, 64088375], [64088478, 64088540], [64089057, 64089214]] [[64085687, 64085858], [64088336, 64088375], [64088478, 64088540], [64089057, 64089163]]
NM_181652 [[64085559, 64085858], [64088336, 64088375], [64088478, 64088540], [64089057, 64089295]] [[64085687, 64085858], [64088336, 64088375], [64088478, 64088540], [64089057, 64089163]]
NM_181651 [[64085559, 64085858], [64087205, 64087340], [64088336, 64088375], [64088478, 64088540], [64089057, 64089295]] [[64085687, 64085858], [64087205, 64087340], [64088336, 64088375], [64088478, 64088540], [64089057, 64089163]]
NM_012094 [[64085559, 64085858], [64087205, 64087340], [64088132, 64088264], [64088336, 64088375], [64088478, 64088540], [64089057, 64089295]] [[64085687, 64085858], [64087205, 64087340], [64088132, 64088264], [64088336, 64088375], [64088478, 64088540], [64089057, 64089163]]
Promoter
Chrom Start End Description
chr11 64085448 64085452 CAGE_peak_3_at_PRDX5_5end
chr11 64085563 64085736 CAGE_peak_1_at_PRDX5_5end
chr11 64085751 64085768 CAGE_peak_2_at_PRDX5_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I173412 173412000 173416605 1.42 [{'connected_gene': 'CENPL', 'score': 10.89}, {'connected_gene': 'DARS2', 'score': 10.89}, {'connected_gene': 'PRDX6', 'score': 10.25}, {'connected_gene': 'KLHL20', 'score': 9.89}, {'connected_gene': 'ENSG00000224228', 'score': 9.88}, {'connected_gene': 'GC01M173428', 'score': 0.39}, {'connected_gene': 'LOC646870', 'score': 0.23}, {'connected_gene': 'LOC100506023', 'score': 0.21}]
chr1 GH01I173003 173003118 173003847 0.94 [{'connected_gene': 'TNFSF18', 'score': 11.06}, {'connected_gene': 'PRDX6', 'score': 2.04}, {'connected_gene': 'ENSG00000224000', 'score': 0.15}, {'connected_gene': 'ENSG00000224228', 'score': 0.07}]
chr11 GH11I064354 64354689 64361259 2.72 [{'connected_gene': 'RPS6KA4', 'score': 559.68}, {'connected_gene': 'LOC102723878', 'score': 20.26}, {'connected_gene': 'PLCB3', 'score': 13.55}, {'connected_gene': 'ENSG00000231680', 'score': 6.78}, {'connected_gene': 'TRPT1', 'score': 4.82}, {'connected_gene': 'MARK2', 'score': 4.13}, {'connected_gene': 'PPP1R14B', 'score': 3.69}, {'connected_gene': 'ESRRA', 'score': 3.36}, {'connected_gene': 'PRDX5', 'score': 2.81}, {'connected_gene': 'TRMT112', 'score': 2.76}, {'connected_gene': 'BAD', 'score': 2.56}, {'connected_gene': 'NUDT22', 'score': 2.25}, {'connected_gene': 'CDC42BPG', 'score': 1.9}, {'connected_gene': 'FKBP2', 'score': 1.29}, {'connected_gene': 'GC11M064349', 'score': 0.77}, {'connected_gene': 'CCDC88B', 'score': 0.37}]
chr1 GH01I173526 173526787 173527776 0.78 [{'connected_gene': 'ZBTB37', 'score': 13.98}, {'connected_gene': 'ENSG00000238272', 'score': 11.47}, {'connected_gene': 'PRDX6', 'score': 10.6}, {'connected_gene': 'SLC9C2', 'score': 10.45}, {'connected_gene': 'KLHL20', 'score': 10.04}, {'connected_gene': 'GAS5', 'score': 5.57}, {'connected_gene': 'PIR59510', 'score': 0.29}]
chr11 GH11I065104 65104738 65106482 0.72 [{'connected_gene': 'LOC728975', 'score': 6.17}, {'connected_gene': 'SYVN1', 'score': 4.94}, {'connected_gene': 'PRDX5', 'score': 4.2}, {'connected_gene': 'ENSG00000254501', 'score': 0.44}, {'connected_gene': 'VPS51', 'score': 0.37}, {'connected_gene': 'TMEM262', 'score': 0.37}]
chr11 GH11I064267 64267086 64274313 1.82 [{'connected_gene': 'GPR137', 'score': 550.77}, {'connected_gene': 'ZFPL1', 'score': 34.68}, {'connected_gene': 'SF1', 'score': 32.9}, {'connected_gene': 'POLA2', 'score': 32.78}, {'connected_gene': 'PLCB3', 'score': 27.53}, {'connected_gene': 'TRMT112', 'score': 23.09}, {'connected_gene': 'DNAJC4', 'score': 21.3}, {'connected_gene': 'ENSG00000257086', 'score': 20.68}, {'connected_gene': 'FAU', 'score': 20.2}, {'connected_gene': 'LOC102723878', 'score': 19.24}, {'connected_gene': 'TRPT1', 'score': 17.08}, {'connected_gene': 'NAALADL1', 'score': 15.12}, {'connected_gene': 'NRXN2', 'score': 13.07}, {'connected_gene': 'KCNK4', 'score': 12.91}, {'connected_gene': 'SPINDOC', 'score': 12.7}, {'connected_gene': 'ATL3', 'score': 12.19}, {'connected_gene': 'ESRRA', 'score': 11.38}, {'connected_gene': 'ZNHIT2', 'score': 11.22}, {'connected_gene': 'RCOR2', 'score': 11.14}, {'connected_gene': 'PRDX5', 'score': 10.91}, {'connected_gene': 'PPP2R5B', 'score': 10.6}, {'connected_gene': 'C11orf95', 'score': 10.12}, {'connected_gene': 'ENSG00000231680', 'score': 9.23}, {'connected_gene': 'CCDC88B', 'score': 4.54}, {'connected_gene': 'GC11P064262', 'score': 0.44}, {'connected_gene': 'BAD', 'score': 0.39}]
chr11 GH11I064320 64320461 64325778 1.06 [{'connected_gene': 'PLCB3', 'score': 28.32}, {'connected_gene': 'LOC102723878', 'score': 25.84}, {'connected_gene': 'CATSPERZ', 'score': 12.21}, {'connected_gene': 'ENSG00000207024', 'score': 12.19}, {'connected_gene': 'KCNK4-TEX40', 'score': 12.17}, {'connected_gene': 'KCNK4', 'score': 12.17}, {'connected_gene': 'BAD', 'score': 12.15}, {'connected_gene': 'GPR137', 'score': 12.11}, {'connected_gene': 'ENSG00000257086', 'score': 11.39}, {'connected_gene': 'TRMT112', 'score': 10.65}, {'connected_gene': 'ENSG00000231680', 'score': 8.94}, {'connected_gene': 'FLRT1', 'score': 4.27}, {'connected_gene': 'ENSG00000256116', 'score': 4.2}, {'connected_gene': 'PIR36303', 'score': 0.77}, {'connected_gene': 'PRDX5', 'score': 0.44}, {'connected_gene': 'GC11P064331', 'score': 0.44}]
chr11 GH11I064316 64316107 64320161 2.3 [{'connected_gene': 'TRMT112', 'score': 571.32}, {'connected_gene': 'PRDX5', 'score': 550.77}, {'connected_gene': 'PIR36303', 'score': 550.77}, {'connected_gene': 'SF1', 'score': 39.1}, {'connected_gene': 'POLA2', 'score': 35.65}, {'connected_gene': 'ZFPL1', 'score': 25.69}, {'connected_gene': 'ENSG00000257086', 'score': 23.16}, {'connected_gene': 'PLCB3', 'score': 11.79}, {'connected_gene': 'ZNHIT2', 'score': 11.22}, {'connected_gene': 'DNAJC4', 'score': 9.81}, {'connected_gene': 'ATG2A', 'score': 9.69}, {'connected_gene': 'ENSG00000231680', 'score': 9.11}, {'connected_gene': 'ESRRA', 'score': 0.39}]
chr1 GH01I173550 173550820 173551142 0.38 [{'connected_gene': 'SLC9C2', 'score': 10.73}, {'connected_gene': 'PRDX6', 'score': 8.69}, {'connected_gene': 'ENSG00000238272', 'score': 0.77}, {'connected_gene': 'PIR59510', 'score': 0.22}]
chr1 GH01I173409 173409084 173411714 1.47 [{'connected_gene': 'KLHL20', 'score': 11.15}, {'connected_gene': 'CENPL', 'score': 10.62}, {'connected_gene': 'DARS2', 'score': 10.62}, {'connected_gene': 'PRDX6', 'score': 10.25}, {'connected_gene': 'ENSG00000224228', 'score': 9.88}, {'connected_gene': 'TNFSF4', 'score': 2.17}, {'connected_gene': 'GC01M173428', 'score': 0.37}, {'connected_gene': 'LOC646870', 'score': 0.25}, {'connected_gene': 'LOC100506023', 'score': 0.2}]
chr1 GH01I173417 173417272 173418983 0.92 [{'connected_gene': 'PRDX6', 'score': 15.08}, {'connected_gene': 'CENPL', 'score': 11.19}, {'connected_gene': 'DARS2', 'score': 11.19}, {'connected_gene': 'GC01M173428', 'score': 0.39}, {'connected_gene': 'LOC101928673', 'score': 0.26}, {'connected_gene': 'LOC646870', 'score': 0.23}, {'connected_gene': 'LOC100506023', 'score': 0.22}]
chr1 GH01I173506 173506460 173508254 1.13 [{'connected_gene': 'PRDX6', 'score': 22.9}, {'connected_gene': 'ANKRD45', 'score': 17.55}, {'connected_gene': 'ENSG00000238272', 'score': 10.74}, {'connected_gene': 'KLHL20', 'score': 10.27}, {'connected_gene': 'SLC9C2', 'score': 10.04}, {'connected_gene': 'GAS5', 'score': 5.4}, {'connected_gene': 'PIR59510', 'score': 0.39}]
chr1 GH01I173423 173423873 173426467 1.09 [{'connected_gene': 'PRDX6', 'score': 11.06}, {'connected_gene': 'SLC9C2', 'score': 6.32}, {'connected_gene': 'GC01M173428', 'score': 0.77}, {'connected_gene': 'LOC101928673', 'score': 0.28}, {'connected_gene': 'LOC100506023', 'score': 0.23}, {'connected_gene': 'LOC646870', 'score': 0.21}]
chr1 GH01I173452 173452062 173452231 0.71 [{'connected_gene': 'PRDX6', 'score': 10.68}, {'connected_gene': 'KLHL20', 'score': 9.78}, {'connected_gene': 'GC01P173448', 'score': 0.77}, {'connected_gene': 'LOC101928673', 'score': 0.44}, {'connected_gene': 'LOC100506023', 'score': 0.31}]
chr11 GH11I064040 64040365 64042374 0.59 [{'connected_gene': 'PRDX5', 'score': 4.91}, {'connected_gene': 'FLRT1', 'score': 0.44}, {'connected_gene': 'ENSG00000256824', 'score': 0.44}, {'connected_gene': 'PIR44183', 'score': 0.39}, {'connected_gene': 'MACROD1', 'score': 0.13}]
chr1 GH01I173420 173420139 173421071 1.25 [{'connected_gene': 'PRDX6', 'score': 21.41}, {'connected_gene': 'RC3H1', 'score': 15.38}, {'connected_gene': 'CENPL', 'score': 11.54}, {'connected_gene': 'DARS2', 'score': 11.54}, {'connected_gene': 'LOC101928673', 'score': 11.03}, {'connected_gene': 'KLHL20', 'score': 10.06}, {'connected_gene': 'GC01M173428', 'score': 0.44}, {'connected_gene': 'LOC100506023', 'score': 0.22}, {'connected_gene': 'LOC646870', 'score': 0.22}]
chr1 GH01I173422 173422953 173423312 0.89 [{'connected_gene': 'PRDX6', 'score': 11.05}, {'connected_gene': 'GC01M173428', 'score': 0.44}, {'connected_gene': 'LOC101928673', 'score': 0.28}, {'connected_gene': 'LOC100506023', 'score': 0.23}, {'connected_gene': 'LOC646870', 'score': 0.22}]
chr1 GH01I173473 173473273 173480369 2.37 [{'connected_gene': 'PRDX6', 'score': 564.85}, {'connected_gene': 'LOC100506023', 'score': 550.77}, {'connected_gene': 'KLHL20', 'score': 34.56}, {'connected_gene': 'GAS5', 'score': 22.09}, {'connected_gene': 'GAS5-AS1', 'score': 20.87}, {'connected_gene': 'CENPL', 'score': 9.74}, {'connected_gene': 'DARS2', 'score': 9.74}, {'connected_gene': 'LOC101928673', 'score': 0.37}]
chr1 GH01I173489 173489982 173490131 0.38 [{'connected_gene': 'PRDX6', 'score': 4.71}, {'connected_gene': 'PIR59510', 'score': 0.77}]
chr11 GH11I064274 64274879 64277731 0.82 [{'connected_gene': 'LOC102723878', 'score': 22.76}, {'connected_gene': 'DNAJC4', 'score': 11.65}, {'connected_gene': 'ESRRA', 'score': 11.4}, {'connected_gene': 'PRDX5', 'score': 10.92}, {'connected_gene': 'TRMT112', 'score': 10.92}, {'connected_gene': 'ENSG00000231680', 'score': 9.18}, {'connected_gene': 'BAD', 'score': 0.44}, {'connected_gene': 'GPR137', 'score': 0.44}]
chr11 GH11I064347 64347430 64349332 0.76 [{'connected_gene': 'LOC102723878', 'score': 22.34}, {'connected_gene': 'MIR1237', 'score': 11.87}, {'connected_gene': 'PRDX5', 'score': 11.82}, {'connected_gene': 'TRMT112', 'score': 11.82}, {'connected_gene': 'ESRRA', 'score': 11.79}, {'connected_gene': 'CATSPERZ', 'score': 11.5}, {'connected_gene': 'ENSG00000207024', 'score': 11.48}, {'connected_gene': 'KCNK4-TEX40', 'score': 11.47}, {'connected_gene': 'KCNK4', 'score': 11.47}, {'connected_gene': 'BAD', 'score': 11.46}, {'connected_gene': 'GPR137', 'score': 11.43}, {'connected_gene': 'GC11M064349', 'score': 0.77}, {'connected_gene': 'CCDC88B', 'score': 0.44}, {'connected_gene': 'MIR7155', 'score': 0.44}]
chr1 GH01I173490 173489262 173489511 0.72 [{'connected_gene': 'LOC101928673', 'score': 4.25}, {'connected_gene': 'PIR59510', 'score': 0.77}, {'connected_gene': 'PRDX6', 'score': 0.39}]
chr1 GH01I173428 173428705 173432179 1.65 [{'connected_gene': 'GC01M173428', 'score': 550.77}, {'connected_gene': 'PRDX6', 'score': 11.08}, {'connected_gene': 'SLC9C2', 'score': 5.98}, {'connected_gene': 'GC01P173448', 'score': 0.37}, {'connected_gene': 'LOC101928673', 'score': 0.29}, {'connected_gene': 'LOC100506023', 'score': 0.25}]
chr1 GH01I173448 173448828 173449749 0.2 [{'connected_gene': 'GC01P173448', 'score': 550.77}, {'connected_gene': 'PRDX6', 'score': 11.43}, {'connected_gene': 'KLHL20', 'score': 9.5}, {'connected_gene': 'GAS5', 'score': 8.36}, {'connected_gene': 'LOC101928673', 'score': 0.39}, {'connected_gene': 'LOC100506023', 'score': 0.31}]