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
ENST00000563332 [[4560675, 4562684], [4562791, 4563065], [4563696, 4563852], [4564046, 4564145], [4564575, 4564665], [4588325, 4588471]] [[4562572, 4562684], [4562791, 4563065], [4563696, 4563852], [4564046, 4564131]]
ENST00000567695 [[4561324, 4562684], [4562791, 4563065], [4563696, 4563852], [4564046, 4564145], [4564575, 4564665], [4588702, 4588785]] [[4562572, 4562684], [4562791, 4563065], [4563696, 4563852], [4564046, 4564131]]
ENST00000564828 [[4561421, 4562684], [4563696, 4563852], [4564575, 4564665], [4588702, 4588829]] [[4562661, 4562684], [4563696, 4563832]]
ENST00000563507 [[4561806, 4562684], [4562791, 4562948], [4563696, 4563852], [4564046, 4564145], [4564575, 4564665], [4588702, 4588785]] [[4562572, 4562684], [4562791, 4562948], [4563696, 4563852], [4564046, 4564131]]
ENST00000562334 [[4561933, 4562684], [4562791, 4562948], [4563816, 4563852], [4564046, 4564145], [4564575, 4564665], [4588702, 4588774]] [[4562572, 4562684], [4562791, 4562948], [4563816, 4563852], [4564046, 4564131]]
ENST00000562579 [[4562454, 4562612], [4563696, 4563852], [4564046, 4564145], [4564575, 4564665], [4588702, 4588776]] [[4562454, 4562612], [4563696, 4563852], [4564046, 4564131]]
ENST00000588381 [[4562916, 4563065], [4563696, 4563852], [4564631, 4564665], [4588325, 4588470]] [[4562916, 4563065], [4563696, 4563832]]
ENST00000586728 [[4563694, 4563852], [4564046, 4564145], [4564575, 4564665], [4586440, 4586769], [4588325, 4588405]] [[4563694, 4563852], [4564046, 4564131]]
ENST00000586768 [[4573827, 4574303], [4588702, 4588774]] None
ENST00000399599 [[4560739, 4562684], [4562791, 4563065], [4563696, 4563852], [4564046, 4564145], [4564575, 4565110]] [[4562572, 4562684], [4562791, 4563065], [4563696, 4563852], [4564046, 4564131]]
ENST00000589159 [[4562399, 4562684], [4562791, 4562999], [4563696, 4563852], [4564046, 4564145], [4564575, 4564665]] [[4562867, 4562999], [4563696, 4563832]]
ENST00000589890 [[4562798, 4563014], [4563696, 4563852], [4564046, 4564150]] [[4562798, 4563014], [4563696, 4563852], [4564046, 4564131]]
ENST00000563186 [[4562867, 4563065], [4563696, 4563852], [4564575, 4564665]] [[4562867, 4563065], [4563696, 4563832]]
ENST00000566234 [[4564045, 4564145], [4564575, 4564665], [4572417, 4572526]] [[4564045, 4564131]]
NM_001199054 [[4560675, 4562684], [4562791, 4563065], [4563696, 4563852], [4564046, 4564145], [4564575, 4564665], [4588325, 4588471]] [[4562572, 4562684], [4562791, 4563065], [4563696, 4563852], [4564046, 4564131]]
NM_013399 [[4560675, 4562684], [4562791, 4563065], [4563696, 4563852], [4564046, 4564145], [4564575, 4564665], [4588702, 4588816]] [[4562572, 4562684], [4562791, 4563065], [4563696, 4563852], [4564046, 4564131]]
NM_001199055 [[4560675, 4562684], [4562791, 4562948], [4563696, 4563852], [4564046, 4564145], [4564575, 4564665], [4588702, 4588816]] [[4562572, 4562684], [4562791, 4562948], [4563696, 4563852], [4564046, 4564131]]
NM_001199056 [[4560675, 4562684], [4562791, 4562948], [4563816, 4563852], [4564046, 4564145], [4564575, 4564665], [4588702, 4588816]] [[4562572, 4562684], [4562791, 4562948], [4563816, 4563852], [4564046, 4564131]]
Promoter
Chrom Start End Description
chr16 4563100 4563144 CAGE_peak_12_at_C16orf5_5end
chr16 4588391 4588418 CAGE_peak_3_at_C16orf5_5end
chr16 4588423 4588453 CAGE_peak_2_at_C16orf5_5end
chr16 4588469 4588491 CAGE_peak_5_at_C16orf5_5end
chr16 4588762 4588800 CAGE_peak_1_at_C16orf5_5end
chr16 4588822 4588834 CAGE_peak_4_at_C16orf5_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr16 GH16I004270 4270487 4274942 2.64 [{'connected_gene': 'TFAP4', 'score': 552.45}, {'connected_gene': 'GC16P004274', 'score': 550.77}, {'connected_gene': 'ZNF75A', 'score': 53.97}, {'connected_gene': 'ZNF500', 'score': 49.57}, {'connected_gene': 'CREBBP', 'score': 31.96}, {'connected_gene': 'ANKS3', 'score': 26.12}, {'connected_gene': 'ENSG00000261938', 'score': 23.48}, {'connected_gene': 'TIGD7', 'score': 18.51}, {'connected_gene': 'CLUAP1', 'score': 13.18}, {'connected_gene': 'ZNF597', 'score': 12.81}, {'connected_gene': 'ENSG00000263235', 'score': 11.29}, {'connected_gene': 'ZNF174', 'score': 11.09}, {'connected_gene': 'MTCO1P28', 'score': 10.81}, {'connected_gene': 'LINC01569', 'score': 10.77}, {'connected_gene': 'MTND1P8', 'score': 10.08}, {'connected_gene': 'ZSCAN32', 'score': 9.89}, {'connected_gene': 'CDIP1', 'score': 2.77}, {'connected_gene': 'HMOX2', 'score': 1.77}, {'connected_gene': 'PAM16', 'score': 1.41}, {'connected_gene': 'MGRN1', 'score': 1.37}, {'connected_gene': 'UBALD1', 'score': 1.29}, {'connected_gene': 'GC16M004260', 'score': 0.39}]
chr16 GH16I004494 4494331 4497655 1.5 [{'connected_gene': 'NMRAL1', 'score': 599.26}, {'connected_gene': 'HMOX2', 'score': 563.01}, {'connected_gene': 'CDIP1', 'score': 12.42}, {'connected_gene': 'NUDT16L1', 'score': 10.3}, {'connected_gene': 'GC16P004506', 'score': 0.39}]
chr16 GH16I004521 4521670 4524162 1.17 [{'connected_gene': 'NMRAL1', 'score': 36.37}, {'connected_gene': 'HMOX2', 'score': 13.49}, {'connected_gene': 'MGRN1', 'score': 5.19}, {'connected_gene': 'PIR61581', 'score': 0.44}, {'connected_gene': 'GC16P004530', 'score': 0.44}, {'connected_gene': 'GC16M004514', 'score': 0.44}, {'connected_gene': 'CDIP1', 'score': 0.37}]
chr16 GH16I004524 4524893 4525873 0.63 [{'connected_gene': 'NMRAL1', 'score': 45.67}, {'connected_gene': 'HMOX2', 'score': 14.08}, {'connected_gene': 'MGRN1', 'score': 4.82}, {'connected_gene': 'GC16P004530', 'score': 0.44}, {'connected_gene': 'PIR61581', 'score': 0.39}, {'connected_gene': 'CDIP1', 'score': 0.39}, {'connected_gene': 'GC16M004514', 'score': 0.39}]
chr16 GH16I004526 4526801 4527589 0.89 [{'connected_gene': 'NMRAL1', 'score': 32.18}, {'connected_gene': 'HMOX2', 'score': 12.38}, {'connected_gene': 'MGRN1', 'score': 5.2}, {'connected_gene': 'GC16P004530', 'score': 0.77}, {'connected_gene': 'PIR61581', 'score': 0.39}, {'connected_gene': 'CDIP1', 'score': 0.39}, {'connected_gene': 'GC16M004514', 'score': 0.39}]
chr16 GH16I004473 4473474 4478862 2.3 [{'connected_gene': 'NMRAL1', 'score': 600.21}, {'connected_gene': 'HMOX2', 'score': 565.99}, {'connected_gene': 'CREBBP', 'score': 37.56}, {'connected_gene': 'ZNF500', 'score': 35.38}, {'connected_gene': 'CDIP1', 'score': 17.26}, {'connected_gene': 'UBN1', 'score': 14.69}, {'connected_gene': 'NUDT16L1', 'score': 10.54}, {'connected_gene': 'ENSG00000261938', 'score': 10.16}, {'connected_gene': 'MGRN1', 'score': 6.12}, {'connected_gene': 'GC16P004473', 'score': 0.77}]
chr16 GH16I004479 4479008 4479888 0.31 [{'connected_gene': 'NMRAL1', 'score': 33.5}, {'connected_gene': 'CDIP1', 'score': 12.57}, {'connected_gene': 'NUDT16L1', 'score': 10.53}, {'connected_gene': 'HMOX2', 'score': 0.77}]
chr16 GH16I004481 4481705 4482510 0.83 [{'connected_gene': 'NMRAL1', 'score': 20.1}, {'connected_gene': 'CDIP1', 'score': 12.57}, {'connected_gene': 'NUDT16L1', 'score': 10.53}, {'connected_gene': 'MGRN1', 'score': 4.77}, {'connected_gene': 'HMOX2', 'score': 0.44}]
chr16 GH16I004517 4517900 4518069 0.87 [{'connected_gene': 'NMRAL1', 'score': 33.54}, {'connected_gene': 'CDIP1', 'score': 13.43}, {'connected_gene': 'PPL', 'score': 10.36}, {'connected_gene': 'PIR61581', 'score': 0.77}, {'connected_gene': 'GC16M004514', 'score': 0.77}, {'connected_gene': 'GC16P004530', 'score': 0.39}]
chr16 GH16I004485 4485274 4491509 1.06 [{'connected_gene': 'NMRAL1', 'score': 52.89}, {'connected_gene': 'CDIP1', 'score': 30.08}, {'connected_gene': 'HMOX2', 'score': 15.44}, {'connected_gene': 'NUDT16L1', 'score': 10.62}, {'connected_gene': 'CORO7', 'score': 6.59}, {'connected_gene': 'MGRN1', 'score': 6.22}]
chr16 GH16I004570 4570435 4571685 0.31 [{'connected_gene': 'NMRAL1', 'score': 13.11}, {'connected_gene': 'CDIP1', 'score': 12.66}, {'connected_gene': 'HMOX2', 'score': 12.6}, {'connected_gene': 'GC16M004577', 'score': 0.44}, {'connected_gene': 'SUB1P3', 'score': 0.44}, {'connected_gene': 'C16orf96', 'score': 0.29}]
chr16 GH16I004513 4513089 4516999 1.12 [{'connected_gene': 'NMRAL1', 'score': 48.61}, {'connected_gene': 'CDIP1', 'score': 20.32}, {'connected_gene': 'ZNF500', 'score': 18.13}, {'connected_gene': 'ENSG00000261938', 'score': 17.24}, {'connected_gene': 'HMOX2', 'score': 13.48}, {'connected_gene': 'ANKS3', 'score': 12.4}, {'connected_gene': 'MGRN1', 'score': 6.24}, {'connected_gene': 'ENSG00000263235', 'score': 4.62}, {'connected_gene': 'PIR61581', 'score': 0.77}, {'connected_gene': 'GC16M004514', 'score': 0.77}, {'connected_gene': 'GC16P004506', 'score': 0.44}, {'connected_gene': 'GC16P004530', 'score': 0.37}]
chr16 GH16I005032 5032547 5037549 2.49 [{'connected_gene': 'NAGPA', 'score': 560.03}, {'connected_gene': 'ALG1', 'score': 550.77}, {'connected_gene': 'ZNF500', 'score': 17.89}, {'connected_gene': 'C16orf89', 'score': 12.75}, {'connected_gene': 'CDIP1', 'score': 11.22}, {'connected_gene': 'PPL', 'score': 10.19}, {'connected_gene': 'NAGPA-AS1', 'score': 0.34}]
chr16 GH16I004556 4556422 4556481 0.76 [{'connected_gene': 'C16orf96', 'score': 550.37}, {'connected_gene': 'ENSG00000261789', 'score': 0.44}, {'connected_gene': 'CDIP1', 'score': 0.37}]
chr16 GH16I004499 4499923 4502728 1.13 [{'connected_gene': 'HMOX2', 'score': 26.29}, {'connected_gene': 'CDIP1', 'score': 12.22}, {'connected_gene': 'NMRAL1', 'score': 0.44}, {'connected_gene': 'GC16P004506', 'score': 0.44}]
chr16 GH16I004518 4518193 4518391 0.54 [{'connected_gene': 'CDIP1', 'score': 13.43}, {'connected_gene': 'PPL', 'score': 10.36}, {'connected_gene': 'PIR61581', 'score': 0.44}, {'connected_gene': 'GC16M004514', 'score': 0.44}, {'connected_gene': 'GC16P004530', 'score': 0.39}]
chr16 GH16I004536 4536911 4539471 2.57 [{'connected_gene': 'CDIP1', 'score': 587.69}, {'connected_gene': 'C16orf96', 'score': 550.77}, {'connected_gene': 'ZNF500', 'score': 35.44}, {'connected_gene': 'NMRAL1', 'score': 32.71}, {'connected_gene': 'ANKS3', 'score': 28.41}, {'connected_gene': 'ENSG00000261938', 'score': 18.07}, {'connected_gene': 'CREBBP', 'score': 11.76}, {'connected_gene': 'EEF2KMT', 'score': 11.53}, {'connected_gene': 'HMOX2', 'score': 10.81}, {'connected_gene': 'GLIS2-AS1', 'score': 10.52}, {'connected_gene': 'GLIS2', 'score': 10.11}, {'connected_gene': 'MGRN1', 'score': 6.28}, {'connected_gene': 'PPL', 'score': 1.92}, {'connected_gene': 'ENSG00000278434', 'score': 0.77}]
chr16 GH16I004548 4548601 4548801 0.63 [{'connected_gene': 'CDIP1', 'score': 0.44}, {'connected_gene': 'C16orf96', 'score': 0.44}, {'connected_gene': 'ENSG00000261789', 'score': 0.39}]
chr16 GH16I004600 4600974 4602056 0.78 [{'connected_gene': 'CDIP1', 'score': 12.93}, {'connected_gene': 'HMOX2', 'score': 12.53}, {'connected_gene': 'MGRN1', 'score': 7.14}, {'connected_gene': 'UBALD1', 'score': 0.39}, {'connected_gene': 'GC16P004586', 'score': 0.37}]
chr16 GH16I004404 4404340 4405139 0.97 [{'connected_gene': 'CDIP1', 'score': 11.29}, {'connected_gene': 'CLUAP1', 'score': 10.91}, {'connected_gene': 'NMRAL1', 'score': 10.91}, {'connected_gene': 'ANKS3', 'score': 10.35}, {'connected_gene': 'CORO7-PAM16', 'score': 0.37}, {'connected_gene': 'CORO7', 'score': 0.34}, {'connected_gene': 'VASN', 'score': 0.29}]
chr16 GH16I004605 4605493 4605513 0.2 [{'connected_gene': 'CDIP1', 'score': 12.92}, {'connected_gene': 'UBALD1', 'score': 0.44}, {'connected_gene': 'GC16P004586', 'score': 0.37}]
chr16 GH16I004765 4765346 4769579 2.39 [{'connected_gene': 'ZNF500', 'score': 561.9}, {'connected_gene': 'SEPT12', 'score': 13.35}, {'connected_gene': 'ROGDI', 'score': 12.24}, {'connected_gene': 'ANKS3', 'score': 12.19}, {'connected_gene': 'C16orf71', 'score': 12.19}, {'connected_gene': 'GLYR1', 'score': 10.69}, {'connected_gene': 'UBN1', 'score': 10.69}, {'connected_gene': 'SMIM22', 'score': 8.12}, {'connected_gene': 'SEC14L5', 'score': 1.92}, {'connected_gene': 'CDIP1', 'score': 1.28}, {'connected_gene': 'ENSG00000276096', 'score': 0.39}]
chr16 GH16I004549 4548840 4549029 0.66 [{'connected_gene': 'MGRN1', 'score': 5.19}, {'connected_gene': 'ENSG00000261789', 'score': 0.39}, {'connected_gene': 'CDIP1', 'score': 0.39}, {'connected_gene': 'C16orf96', 'score': 0.39}]
chr16 GH16I004020 4020660 4021959 1.08 [{'connected_gene': 'CREBBP', 'score': 10.87}, {'connected_gene': 'ADCY9', 'score': 10.82}, {'connected_gene': 'C16orf71', 'score': 5.08}, {'connected_gene': 'CDIP1', 'score': 4.47}, {'connected_gene': 'GC16M004019', 'score': 0.77}, {'connected_gene': 'GC16M003975', 'score': 0.26}]
chr16 GH16I004922 4922497 4924027 0.49 [{'connected_gene': 'SEPT12', 'score': 16.76}, {'connected_gene': 'CDIP1', 'score': 4.76}, {'connected_gene': 'GC16P004899', 'score': 0.34}, {'connected_gene': 'GC16M004952', 'score': 0.31}, {'connected_gene': 'LOC105371064', 'score': 0.31}, {'connected_gene': 'PPL', 'score': 0.28}]
chr16 GH16I004010 4010865 4017237 1.37 [{'connected_gene': 'ADCY9', 'score': 10.91}, {'connected_gene': 'CREBBP', 'score': 10.88}, {'connected_gene': 'C16orf71', 'score': 5.07}, {'connected_gene': 'CDIP1', 'score': 4.46}, {'connected_gene': 'CORO7', 'score': 3.41}, {'connected_gene': 'GC16M004019', 'score': 0.39}, {'connected_gene': 'GC16M003975', 'score': 0.28}]
chr16 GH16I004894 4894876 4895060 0.57 [{'connected_gene': 'LOC105371064', 'score': 550.77}, {'connected_gene': 'GLYR1', 'score': 16.09}, {'connected_gene': 'PPL', 'score': 11.67}, {'connected_gene': 'UBN1', 'score': 11.67}, {'connected_gene': 'SEPT12', 'score': 3.33}, {'connected_gene': 'C16orf71', 'score': 3.05}, {'connected_gene': 'HMOX2', 'score': 2.79}, {'connected_gene': 'SEC14L5', 'score': 2.74}, {'connected_gene': 'ROGDI', 'score': 1.99}, {'connected_gene': 'CDIP1', 'score': 1.89}, {'connected_gene': 'PIR34804', 'score': 0.44}]
chr16 GH16I004252 4252820 4254477 1.79 [{'connected_gene': 'LINC01569', 'score': 562.53}, {'connected_gene': 'LOC105371063', 'score': 550.77}, {'connected_gene': 'CREBBP', 'score': 50.17}, {'connected_gene': 'ZNF500', 'score': 46.31}, {'connected_gene': 'ZNF263', 'score': 43.23}, {'connected_gene': 'ENSG00000261938', 'score': 37.98}, {'connected_gene': 'ZNF597', 'score': 33.51}, {'connected_gene': 'ZNF75A', 'score': 21.84}, {'connected_gene': 'UBN1', 'score': 12.48}, {'connected_gene': 'ANKS3', 'score': 10.93}, {'connected_gene': 'CDIP1', 'score': 10.5}, {'connected_gene': 'ALG1', 'score': 9.92}, {'connected_gene': 'TIGD7', 'score': 9.92}, {'connected_gene': 'MTCO1P28', 'score': 9.77}, {'connected_gene': 'GC16M004246', 'score': 0.44}]
chr16 GH16I004639 4639112 4641600 0.83 [{'connected_gene': 'ENSG00000261442', 'score': 550.77}, {'connected_gene': 'NUDT16L1', 'score': 11.95}, {'connected_gene': 'ZNF500', 'score': 10.84}, {'connected_gene': 'NMRAL1', 'score': 10.5}, {'connected_gene': 'MGRN1', 'score': 7.21}, {'connected_gene': 'CDIP1', 'score': 5.98}, {'connected_gene': 'RN7SL850P', 'score': 0.44}]
chr16 GH16I004503 4503114 4507191 1.21 [{'connected_gene': 'GC16P004506', 'score': 550.77}, {'connected_gene': 'NMRAL1', 'score': 49.76}, {'connected_gene': 'HMOX2', 'score': 26.08}, {'connected_gene': 'CDIP1', 'score': 13.2}, {'connected_gene': 'PPL', 'score': 10.32}]
chr16 GH16I004509 4509354 4510698 0.43 [{'connected_gene': 'PIR52756', 'score': 550.77}, {'connected_gene': 'NMRAL1', 'score': 47.7}, {'connected_gene': 'HMOX2', 'score': 13.51}, {'connected_gene': 'GC16P004506', 'score': 0.77}, {'connected_gene': 'CDIP1', 'score': 0.31}]
chr16 GH16I004533 4533751 4536600 0.96 [{'connected_gene': 'ENSG00000278434', 'score': 550.77}, {'connected_gene': 'NMRAL1', 'score': 40.27}, {'connected_gene': 'HMOX2', 'score': 11.58}, {'connected_gene': 'MGRN1', 'score': 6.27}, {'connected_gene': 'CDIP1', 'score': 0.77}, {'connected_gene': 'C16orf96', 'score': 0.77}]
chr16 GH16I004528 4528640 4530322 1.07 [{'connected_gene': 'GC16P004530', 'score': 550.77}, {'connected_gene': 'NMRAL1', 'score': 44.52}, {'connected_gene': 'HMOX2', 'score': 13.45}, {'connected_gene': 'MGRN1', 'score': 6.26}, {'connected_gene': 'CDIP1', 'score': 0.44}, {'connected_gene': 'PIR61581', 'score': 0.37}, {'connected_gene': 'GC16M004514', 'score': 0.37}]
chr16 GH16I004530 4530672 4532878 0.73 [{'connected_gene': 'ENSG00000278434', 'score': 550.77}, {'connected_gene': 'GC16P004530', 'score': 550.77}, {'connected_gene': 'NMRAL1', 'score': 44.51}, {'connected_gene': 'HMOX2', 'score': 14.41}, {'connected_gene': 'CREBBP', 'score': 14.0}, {'connected_gene': 'ZNF500', 'score': 13.72}, {'connected_gene': 'ENSG00000261938', 'score': 10.16}, {'connected_gene': 'MGRN1', 'score': 6.27}, {'connected_gene': 'CDIP1', 'score': 0.44}]
chr16 GH16I004510 4510842 4512149 0.87 [{'connected_gene': 'PIR61581', 'score': 550.77}, {'connected_gene': 'PIR46102', 'score': 550.77}, {'connected_gene': 'GC16M004513', 'score': 550.77}, {'connected_gene': 'PIR52756', 'score': 550.77}, {'connected_gene': 'GC16M004514', 'score': 550.77}, {'connected_gene': 'PIR40459', 'score': 550.77}, {'connected_gene': 'NMRAL1', 'score': 33.47}, {'connected_gene': 'GC16P004506', 'score': 0.77}, {'connected_gene': 'CDIP1', 'score': 0.31}]
chr16 GH16I004512 4512758 4512930 0.2 [{'connected_gene': 'PIR61581', 'score': 550.77}, {'connected_gene': 'PIR46102', 'score': 550.77}, {'connected_gene': 'GC16M004513', 'score': 550.77}, {'connected_gene': 'PIR52756', 'score': 550.77}, {'connected_gene': 'GC16M004514', 'score': 550.77}, {'connected_gene': 'PIR40459', 'score': 550.77}, {'connected_gene': 'GC16P004506', 'score': 0.44}, {'connected_gene': 'CDIP1', 'score': 0.31}]

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