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
ENST00000563958 [[8715539, 8715632], [8717613, 8717752], [8719352, 8719655], [8722586, 8722665]] [[8719522, 8719655], [8722586, 8722665]]
ENST00000381920 [[8715544, 8715632], [8719352, 8719655], [8722586, 8722967], [8728895, 8728936], [8729024, 8729169], [8732947, 8733019], [8734987, 8735041], [8735983, 8736064], [8736319, 8736422], [8738413, 8738582], [8739964, 8740079]] [[8719522, 8719655], [8722586, 8722967], [8728895, 8728936], [8729024, 8729169], [8732947, 8733019], [8734987, 8735041], [8735983, 8736064], [8736319, 8736422], [8738413, 8738582], [8739964, 8740000]]
ENST00000163678 [[8715547, 8715632], [8719352, 8719655], [8722586, 8722967], [8729024, 8729169], [8732947, 8733019], [8734987, 8735041], [8735983, 8736064], [8736319, 8736422], [8738413, 8738582], [8739964, 8740081]] [[8719522, 8719655], [8722586, 8722967], [8729024, 8729128]]
ENST00000564554 [[8715566, 8715632], [8717709, 8717975], [8719352, 8719570]] [[8719522, 8719570]]
ENST00000561758 [[8715585, 8715632], [8719352, 8719655], [8722586, 8722733], [8722901, 8722967], [8728895, 8728936], [8729024, 8729169], [8732947, 8733019], [8734987, 8735041], [8735983, 8736064], [8736319, 8736422], [8738413, 8738582], [8739964, 8740048]] [[8719522, 8719655], [8722586, 8722733], [8722901, 8722967], [8728895, 8728936], [8729024, 8729169], [8732947, 8733019], [8734987, 8735041], [8735983, 8736064], [8736319, 8736422], [8738413, 8738582], [8739964, 8740000]]
ENST00000567295 [[8715588, 8715632], [8719352, 8719655], [8722756, 8722967], [8728895, 8728936], [8729024, 8729139]] [[8719522, 8719655], [8722756, 8722767]]
ENST00000563037 [[8717458, 8717975], [8719352, 8719432]] None
ENST00000568967 [[8725103, 8725995], [8728895, 8728936], [8729024, 8729169], [8732947, 8733019], [8734987, 8735041], [8735983, 8736064], [8736319, 8736422], [8738413, 8738582], [8739964, 8740079]] None
ENST00000564624 [[8729024, 8729169], [8732947, 8733062]] None
ENST00000572956 [[8729081, 8729169], [8732947, 8733019], [8734987, 8735041], [8735983, 8736064], [8736319, 8736422], [8738385, 8738582], [8739964, 8740075]] [[8729081, 8729169], [8732947, 8733019], [8734987, 8735041], [8735983, 8736064], [8736319, 8736422], [8738385, 8738452]]
ENST00000561993 [[8732963, 8733019], [8734987, 8735041], [8735983, 8736064], [8736319, 8736784]] None
ENST00000563501 [[8733090, 8733533], [8734987, 8735041], [8735983, 8736005]] None
ENST00000565866 [[8734987, 8735041], [8735259, 8735302], [8735983, 8736064], [8736319, 8736422], [8738413, 8738582], [8739964, 8740075]] [[8734987, 8735041], [8735259, 8735302], [8735983, 8736026]]
ENST00000562151 [[8734994, 8735041], [8735983, 8736064], [8736319, 8736422], [8738413, 8738582], [8739764, 8739884]] [[8734994, 8735041], [8735983, 8736064], [8736319, 8736422], [8738413, 8738582], [8739764, 8739860]]
ENST00000564107 [[8735479, 8735636], [8735983, 8736064], [8736319, 8736422], [8738413, 8738510]] None
ENST00000564133 [[8735734, 8736064], [8736319, 8736396]] None
ENST00000562973 [[8736324, 8736422], [8738413, 8738901]] [[8736324, 8736422], [8738413, 8738627]]
ENST00000569597 [[8738293, 8738582], [8739964, 8740079]] None
NR_134608 [[8715496, 8715632], [8719352, 8719655], [8722586, 8722967], [8729024, 8729169], [8732947, 8733019], [8734987, 8735041], [8735983, 8736064], [8736319, 8736422], [8738413, 8738582], [8739964, 8740079]] None
NM_024109 [[8715496, 8715632], [8719352, 8719655], [8722586, 8722967], [8728895, 8728936], [8729024, 8729169], [8732947, 8733019], [8734987, 8735041], [8735983, 8736064], [8736319, 8736422], [8738413, 8738582], [8739964, 8740079]] [[8719522, 8719655], [8722586, 8722967], [8728895, 8728936], [8729024, 8729169], [8732947, 8733019], [8734987, 8735041], [8735983, 8736064], [8736319, 8736422], [8738413, 8738582], [8739964, 8740000]]
Promoter
Chrom Start End Description
chr16 8715536 8715572 CAGE_peak_1_at_METTL22_5end
chr16 8715574 8715586 CAGE_peak_2_at_METTL22_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr16 GH16I008569 8569601 8570200 0.66 [{'connected_gene': 'METTL22', 'score': 10.68}, {'connected_gene': 'GC16P008558', 'score': 0.39}, {'connected_gene': 'GC16M008570', 'score': 0.39}, {'connected_gene': 'TMEM114', 'score': 0.34}]
chr16 GH16I008565 8565398 8565863 0.52 [{'connected_gene': 'METTL22', 'score': 10.64}, {'connected_gene': 'GC16P008558', 'score': 0.44}, {'connected_gene': 'GC16M008570', 'score': 0.37}, {'connected_gene': 'TMEM114', 'score': 0.34}]
chr16 GH16I008547 8547815 8549013 0.31 [{'connected_gene': 'METTL22', 'score': 4.9}, {'connected_gene': 'GC16P008558', 'score': 0.39}, {'connected_gene': 'ENSG00000261066', 'score': 0.37}, {'connected_gene': 'TMEM114', 'score': 0.26}]
chr16 GH16I008570 8570630 8572131 0.99 [{'connected_gene': 'METTL22', 'score': 10.74}, {'connected_gene': 'GC16P008558', 'score': 0.39}, {'connected_gene': 'GC16M008570', 'score': 0.39}, {'connected_gene': 'TMEM114', 'score': 0.37}]
chr16 GH16I008567 8567600 8568201 1.2 [{'connected_gene': 'METTL22', 'score': 10.74}, {'connected_gene': 'GC16P008558', 'score': 0.44}, {'connected_gene': 'GC16M008570', 'score': 0.37}, {'connected_gene': 'TMEM114', 'score': 0.34}]
chr16 GH16I007766 7766739 7766888 0.2 [{'connected_gene': 'METTL22', 'score': 6.28}, {'connected_gene': 'ENSG00000252138', 'score': 0.28}, {'connected_gene': 'LOC105371069', 'score': 0.13}]
chr16 GH16I008644 8644001 8645800 0.89 [{'connected_gene': 'METTL22', 'score': 17.12}, {'connected_gene': 'GC16M008655', 'score': 0.39}]
chr16 GH16I008621 8621084 8623236 2.15 [{'connected_gene': 'METTL22', 'score': 574.16}, {'connected_gene': 'GC16M008655', 'score': 0.28}]
chr16 GH16I008645 8645884 8646033 0.4 [{'connected_gene': 'METTL22', 'score': 16.5}, {'connected_gene': 'GC16M008655', 'score': 0.39}]
chr16 GH16I008631 8631760 8633760 1.25 [{'connected_gene': 'C16orf72', 'score': 15.8}, {'connected_gene': 'METTL22', 'score': 15.49}, {'connected_gene': 'TMEM114', 'score': 11.24}, {'connected_gene': 'USP7', 'score': 3.35}, {'connected_gene': 'GC16M008655', 'score': 0.31}]
chr16 GH16I008536 8536799 8536948 0.31 [{'connected_gene': 'TMEM114', 'score': 10.82}, {'connected_gene': 'METTL22', 'score': 5.38}, {'connected_gene': 'ENSG00000261066', 'score': 0.77}, {'connected_gene': 'GC16P008558', 'score': 0.34}]
chr16 GH16I008594 8594404 8594553 0.89 [{'connected_gene': 'TMEM114', 'score': 0.77}, {'connected_gene': 'METTL22', 'score': 0.31}]
chr16 GH16I008635 8635464 8635613 0.9 [{'connected_gene': 'TMEM114', 'score': 11.04}, {'connected_gene': 'METTL22', 'score': 0.39}, {'connected_gene': 'GC16M008655', 'score': 0.34}]
chr16 GH16I008680 8680772 8681687 0.86 [{'connected_gene': 'ABAT', 'score': 23.63}, {'connected_gene': 'METTL22', 'score': 7.14}, {'connected_gene': 'RN7SL743P', 'score': 0.77}]
chr16 GH16I008677 8677161 8680763 0.99 [{'connected_gene': 'ABAT', 'score': 26.96}, {'connected_gene': 'METTL22', 'score': 12.56}, {'connected_gene': 'RN7SL743P', 'score': 0.77}]
chr16 GH16I008675 8675244 8675393 0.54 [{'connected_gene': 'ABAT', 'score': 550.77}, {'connected_gene': 'METTL22', 'score': 11.7}, {'connected_gene': 'RN7SL743P', 'score': 0.44}]
chr16 GH16I008673 8673801 8675201 1.88 [{'connected_gene': 'ABAT', 'score': 558.62}, {'connected_gene': 'METTL22', 'score': 14.62}, {'connected_gene': 'GC16P008670', 'score': 0.77}]
chr16 GH16I008655 8655264 8655373 0.75 [{'connected_gene': 'RNU7-63P', 'score': 11.02}, {'connected_gene': 'GC16M008655', 'score': 0.77}, {'connected_gene': 'METTL22', 'score': 0.29}]
chr16 GH16I008585 8585110 8585469 0.33 [{'connected_gene': 'GC16M008570', 'score': 550.77}, {'connected_gene': 'METTL22', 'score': 7.0}, {'connected_gene': 'TMEM114', 'score': 0.77}]
chr16 GH16I007764 7764264 7765808 0.38 [{'connected_gene': 'ENSG00000252138', 'score': 11.47}, {'connected_gene': 'METTL22', 'score': 5.34}, {'connected_gene': 'LOC105371069', 'score': 0.13}]
chr16 GH16I009089 9089804 9094913 2.29 [{'connected_gene': 'GC16P009091', 'score': 550.77}, {'connected_gene': 'C16orf72', 'score': 550.77}, {'connected_gene': 'PIR39735', 'score': 550.77}, {'connected_gene': 'USP7', 'score': 24.22}, {'connected_gene': 'METTL22', 'score': 23.75}, {'connected_gene': 'ENSG00000263244', 'score': 11.62}, {'connected_gene': 'CARHSP1', 'score': 7.54}, {'connected_gene': 'ENSG00000260349', 'score': 6.22}, {'connected_gene': 'GC16P009105', 'score': 0.39}]