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
ENST00000557056 [[24787554, 24787774], [24787859, 24787984], [24788303, 24788418], [24788534, 24788642], [24788947, 24789094], [24791271, 24792660], [24793267, 24793405], [24793512, 24793597], [24794582, 24794680], [24795023, 24795093], [24795284, 24795371], [24795504, 24795548], [24798266, 24798440], [24798606, 24798739], [24799065, 24799224], [24800223, 24800335], [24800413, 24800562], [24800993, 24801143], [24801727, 24801928], [24801996, 24802194], [24804189, 24804277]] [[24799107, 24799224], [24800223, 24800335], [24800413, 24800562], [24800993, 24801143], [24801727, 24801850]]
ENST00000310677 [[24787554, 24787774], [24787859, 24787984], [24788303, 24788418], [24788534, 24788642], [24788947, 24789094], [24791271, 24791430], [24791829, 24791914], [24792109, 24792294], [24792549, 24792660], [24793267, 24793405], [24793512, 24793597], [24794582, 24794680], [24795023, 24795093], [24795284, 24795371], [24795504, 24795548], [24798266, 24798440], [24798606, 24798739], [24799065, 24799224], [24799373, 24799501], [24800223, 24800335], [24800413, 24800562], [24800993, 24801143], [24801727, 24801889], [24801996, 24802194], [24803699, 24803884], [24804189, 24804277]] [[24787621, 24787774], [24787859, 24787984], [24788303, 24788418], [24788534, 24788642], [24788947, 24789094], [24791271, 24791430], [24791829, 24791914], [24792109, 24792294], [24792549, 24792660], [24793267, 24793405], [24793512, 24793597], [24794582, 24794680], [24795023, 24795093], [24795284, 24795371], [24795504, 24795548], [24798266, 24798440], [24798606, 24798739], [24799065, 24799224], [24799373, 24799501], [24800223, 24800335], [24800413, 24800562], [24800993, 24801143], [24801727, 24801889], [24801996, 24802194], [24803699, 24803858]]
ENST00000555684 [[24787569, 24788415]] None
ENST00000554577 [[24787569, 24787774], [24787859, 24787984], [24788303, 24788418], [24788534, 24788642], [24788947, 24789094], [24790921, 24791182], [24791271, 24791914], [24792109, 24792294], [24792549, 24792660], [24793267, 24793405], [24793512, 24793597], [24794582, 24794680], [24795023, 24795093], [24795284, 24795371], [24795504, 24795548], [24798266, 24798440], [24798606, 24798739], [24799065, 24800335], [24800413, 24801690]] None
ENST00000554068 [[24787569, 24787774], [24787859, 24787984], [24788303, 24788418], [24788534, 24788642], [24788947, 24789094], [24791271, 24791430], [24791829, 24791914], [24792109, 24792294], [24792549, 24792660], [24793267, 24793405], [24793512, 24793597], [24794582, 24794680], [24795023, 24795093], [24795284, 24795371], [24795504, 24795548], [24798266, 24798440], [24798606, 24798739], [24799065, 24799224], [24799373, 24799501], [24800223, 24800335], [24800413, 24800562], [24800993, 24801143], [24801727, 24801889], [24801996, 24802194], [24803699, 24803888], [24804189, 24804277]] [[24787621, 24787774], [24787859, 24787984], [24788303, 24788418], [24788534, 24788642], [24788947, 24789094], [24791271, 24791430], [24791829, 24791914], [24792109, 24792294], [24792549, 24792660], [24793267, 24793405], [24793512, 24793597], [24794582, 24794680], [24795023, 24795093], [24795284, 24795371], [24795504, 24795548], [24798266, 24798440], [24798606, 24798739], [24799065, 24799224], [24799373, 24799501], [24800223, 24800335], [24800413, 24800562], [24800993, 24801143], [24801727, 24801889], [24801996, 24802194], [24803699, 24803858]]
ENST00000545213 [[24787570, 24787774], [24787859, 24787984], [24788303, 24788418], [24788534, 24788642], [24788947, 24789110], [24791271, 24791430], [24791829, 24791914], [24792109, 24792294], [24792549, 24792660], [24794582, 24794680], [24795023, 24795093], [24795284, 24795548], [24797812, 24798079], [24798266, 24798440], [24798606, 24798739], [24799065, 24799814]] None
ENST00000554781 [[24787597, 24787774], [24787859, 24787984], [24788303, 24788418], [24788534, 24788642], [24788947, 24789094], [24791271, 24791430], [24791829, 24791914], [24792109, 24792294], [24792549, 24792660], [24793267, 24793405], [24793512, 24793597], [24794582, 24794680], [24795023, 24795093], [24795284, 24795371], [24795504, 24795548], [24798266, 24798440], [24798606, 24798739], [24799065, 24799224], [24799373, 24799533], [24800223, 24800335], [24800413, 24800562], [24800993, 24801143], [24801727, 24801889], [24801996, 24802194], [24803699, 24803953]] [[24798638, 24798739], [24799065, 24799224], [24799373, 24799533], [24800223, 24800335], [24800413, 24800562], [24800993, 24801143], [24801727, 24801889], [24801996, 24802194], [24803699, 24803858]]
ENST00000418030 [[24787597, 24787774], [24787859, 24787984], [24788303, 24788418], [24788534, 24788642], [24788947, 24789094], [24791271, 24791430], [24791829, 24791914], [24792109, 24792294], [24792549, 24792660], [24793267, 24793405], [24793512, 24793597], [24794582, 24794680], [24795023, 24795093], [24795284, 24795371], [24795504, 24795548], [24798266, 24798440], [24798606, 24798739], [24799065, 24799224], [24799373, 24799501], [24800223, 24800335], [24800413, 24800562], [24800993, 24801143], [24801727, 24801889], [24801996, 24802194], [24803699, 24803953]] [[24787621, 24787774], [24787859, 24787984], [24788303, 24788418], [24788534, 24788642], [24788947, 24789094], [24791271, 24791430], [24791829, 24791914], [24792109, 24792294], [24792549, 24792660], [24793267, 24793405], [24793512, 24793597], [24794582, 24794680], [24795023, 24795093], [24795284, 24795371], [24795504, 24795548], [24798266, 24798440], [24798606, 24798739], [24799065, 24799224], [24799373, 24799501], [24800223, 24800335], [24800413, 24800562], [24800993, 24801143], [24801727, 24801889], [24801996, 24802194], [24803699, 24803858]]
ENST00000561200 [[24788130, 24788418], [24788534, 24788642], [24788947, 24788985]] None
ENST00000560635 [[24788511, 24788739], [24788947, 24789094], [24791271, 24791569]] None
ENST00000554936 [[24791601, 24792294], [24792549, 24792769]] None
ENST00000396747 [[24792525, 24792660], [24793267, 24793405], [24793512, 24793597], [24794582, 24794680], [24795023, 24795093], [24795284, 24795371], [24795504, 24795548], [24798266, 24798440], [24798606, 24798739], [24799065, 24799224], [24800223, 24800335], [24800413, 24800562], [24800993, 24801143], [24801727, 24801889], [24801996, 24802194], [24803699, 24803953]] [[24792525, 24792660], [24793267, 24793405], [24793512, 24793597], [24794582, 24794680], [24795023, 24795093], [24795284, 24795371], [24795504, 24795548], [24798266, 24798440], [24798606, 24798739], [24799065, 24799224], [24800223, 24800335], [24800413, 24800438]]
ENST00000554959 [[24794612, 24794680], [24795023, 24795093], [24795284, 24795721]] None
ENST00000556932 [[24795029, 24795093], [24795310, 24795371], [24795504, 24795548], [24798266, 24798440], [24798606, 24798674]] [[24795029, 24795093], [24795310, 24795371], [24795504, 24795548], [24798266, 24798440], [24798606, 24798674]]
ENST00000554674 [[24799787, 24800335], [24800413, 24800562], [24800993, 24801143], [24801727, 24801777]] None
ENST00000557099 [[24801443, 24802194], [24803699, 24804299]] None
ENST00000559167 [[24801742, 24801889], [24801996, 24802194], [24803699, 24803841], [24804189, 24804277]] [[24801742, 24801850]]
ENST00000558563 [[24801864, 24801889], [24801996, 24802194], [24803699, 24803841], [24804090, 24804277]] None
ENST00000558125 [[24801913, 24801928], [24801996, 24802194], [24803699, 24803841], [24804189, 24804277]] None
ENST00000561138 [[24802007, 24802194], [24803699, 24803884], [24804090, 24804277]] [[24802007, 24802194], [24803699, 24803858]]
NM_001198568 [[24787554, 24787774], [24787859, 24787984], [24788303, 24788418], [24788534, 24788642], [24788947, 24789094], [24791271, 24791430], [24791829, 24791914], [24792109, 24792294], [24792549, 24792660], [24793267, 24793405], [24793512, 24793597], [24794582, 24794680], [24795023, 24795093], [24795284, 24795371], [24795504, 24795548], [24798266, 24798440], [24798606, 24798739], [24799065, 24799224], [24799373, 24799501], [24800223, 24800335], [24800413, 24800562], [24800993, 24801143], [24801727, 24801889], [24801996, 24802194], [24803699, 24804277]] [[24787621, 24787774], [24787859, 24787984], [24788303, 24788418], [24788534, 24788642], [24788947, 24789094], [24791271, 24791430], [24791829, 24791914], [24792109, 24792294], [24792549, 24792660], [24793267, 24793405], [24793512, 24793597], [24794582, 24794680], [24795023, 24795093], [24795284, 24795371], [24795504, 24795548], [24798266, 24798440], [24798606, 24798739], [24799065, 24799224], [24799373, 24799501], [24800223, 24800335], [24800413, 24800562], [24800993, 24801143], [24801727, 24801889], [24801996, 24802194], [24803699, 24803858]]
NM_001198592 [[24787554, 24787774], [24787859, 24787984], [24788303, 24788418], [24788534, 24788642], [24788947, 24789094], [24791271, 24791430], [24791829, 24791914], [24792109, 24792294], [24792549, 24792660], [24793267, 24793405], [24793512, 24793597], [24794582, 24794680], [24795023, 24795093], [24795284, 24795371], [24795504, 24795548], [24798266, 24798440], [24798606, 24798739], [24799065, 24799224], [24799373, 24799501], [24800223, 24800335], [24800413, 24800562], [24800993, 24801143], [24801727, 24801889], [24801996, 24802194], [24803699, 24803888], [24804189, 24804277]] [[24787621, 24787774], [24787859, 24787984], [24788303, 24788418], [24788534, 24788642], [24788947, 24789094], [24791271, 24791430], [24791829, 24791914], [24792109, 24792294], [24792549, 24792660], [24793267, 24793405], [24793512, 24793597], [24794582, 24794680], [24795023, 24795093], [24795284, 24795371], [24795504, 24795548], [24798266, 24798440], [24798606, 24798739], [24799065, 24799224], [24799373, 24799501], [24800223, 24800335], [24800413, 24800562], [24800993, 24801143], [24801727, 24801889], [24801996, 24802194], [24803699, 24803858]]
NM_139247 [[24787554, 24787774], [24787859, 24787984], [24788303, 24788418], [24788534, 24788642], [24788947, 24789094], [24791271, 24791430], [24791829, 24791914], [24792109, 24792294], [24792549, 24792660], [24793267, 24793405], [24793512, 24793597], [24794582, 24794680], [24795023, 24795093], [24795284, 24795371], [24795504, 24795548], [24798266, 24798440], [24798606, 24798739], [24799065, 24799224], [24799373, 24799501], [24800223, 24800335], [24800413, 24800562], [24800993, 24801143], [24801727, 24801889], [24801996, 24802194], [24803699, 24803884], [24804189, 24804277]] [[24787621, 24787774], [24787859, 24787984], [24788303, 24788418], [24788534, 24788642], [24788947, 24789094], [24791271, 24791430], [24791829, 24791914], [24792109, 24792294], [24792549, 24792660], [24793267, 24793405], [24793512, 24793597], [24794582, 24794680], [24795023, 24795093], [24795284, 24795371], [24795504, 24795548], [24798266, 24798440], [24798606, 24798739], [24799065, 24799224], [24799373, 24799501], [24800223, 24800335], [24800413, 24800562], [24800993, 24801143], [24801727, 24801889], [24801996, 24802194], [24803699, 24803858]]
Promoter
Chrom Start End Description
chr14 24804269 24804292 CAGE_peak_1_at_ADCY4_5end
chr14 24804295 24804306 CAGE_peak_2_at_ADCY4_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr14 GH14I024006 24006001 24008000 1.03 [{'connected_gene': 'DHRS4L1', 'score': 550.77}, {'connected_gene': 'DHRS4L2', 'score': 17.16}, {'connected_gene': 'C14orf93', 'score': 5.94}, {'connected_gene': 'ADCY4', 'score': 4.95}, {'connected_gene': 'DHRS4-AS1', 'score': 0.37}]
chr14 GH14I024422 24422587 24432903 2.73 [{'connected_gene': 'CBLN3', 'score': 613.66}, {'connected_gene': 'KHNYN', 'score': 587.15}, {'connected_gene': 'SDR39U1', 'score': 48.57}, {'connected_gene': 'NYNRIN', 'score': 32.89}, {'connected_gene': 'MDP1', 'score': 19.14}, {'connected_gene': 'NGDN', 'score': 16.54}, {'connected_gene': 'NFATC4', 'score': 14.4}, {'connected_gene': 'ENSG00000259321', 'score': 11.45}, {'connected_gene': 'TINF2', 'score': 11.17}, {'connected_gene': 'ADCY4', 'score': 10.49}, {'connected_gene': 'ZFHX2-AS1', 'score': 9.84}, {'connected_gene': 'NEDD8-MDP1', 'score': 9.36}, {'connected_gene': 'NEDD8', 'score': 9.36}, {'connected_gene': 'IRF9', 'score': 3.91}, {'connected_gene': 'PSME1', 'score': 1.2}]
chr14 GH14I024417 24417940 24419461 0.69 [{'connected_gene': 'CBLN3', 'score': 17.75}, {'connected_gene': 'ADCY4', 'score': 11.23}, {'connected_gene': 'KHNYN', 'score': 7.85}, {'connected_gene': 'NYNRIN', 'score': 0.37}]
chr14 GH14I024371 24371872 24373384 0.59 [{'connected_gene': 'NYNRIN', 'score': 12.79}, {'connected_gene': 'CBLN3', 'score': 11.95}, {'connected_gene': 'KHNYN', 'score': 11.93}, {'connected_gene': 'ADCY4', 'score': 10.89}, {'connected_gene': 'TGM1', 'score': 10.15}, {'connected_gene': 'NFATC4', 'score': 0.44}]
chr14 GH14I024397 24397447 24404184 1.99 [{'connected_gene': 'NYNRIN', 'score': 578.47}, {'connected_gene': 'KHNYN', 'score': 16.36}, {'connected_gene': 'ADCY4', 'score': 15.63}, {'connected_gene': 'NGDN', 'score': 12.84}, {'connected_gene': 'RIPK3', 'score': 11.68}, {'connected_gene': 'CBLN3', 'score': 11.6}, {'connected_gene': 'NFATC4', 'score': 10.26}, {'connected_gene': 'LTB4R', 'score': 4.49}]
chr14 GH14I024435 24435561 24438661 1.01 [{'connected_gene': 'SDR39U1', 'score': 39.16}, {'connected_gene': 'ADCY4', 'score': 11.5}, {'connected_gene': 'LTB4R', 'score': 10.98}, {'connected_gene': 'CIDEB', 'score': 10.98}, {'connected_gene': 'NOP9', 'score': 10.97}, {'connected_gene': 'DHRS1', 'score': 10.97}, {'connected_gene': 'LTB4R2', 'score': 10.97}, {'connected_gene': 'NYNRIN', 'score': 10.7}, {'connected_gene': 'ENSG00000258744', 'score': 6.85}, {'connected_gene': 'PIR37686', 'score': 0.44}, {'connected_gene': 'CBLN3', 'score': 0.44}, {'connected_gene': 'GC14P024445', 'score': 0.44}, {'connected_gene': 'KHNYN', 'score': 0.39}]
chr14 GH14I024364 24364968 24371044 2.27 [{'connected_gene': 'NFATC4', 'score': 550.77}, {'connected_gene': 'ADCY4', 'score': 20.94}, {'connected_gene': 'SDR39U1', 'score': 16.94}, {'connected_gene': 'RIPK3', 'score': 14.77}, {'connected_gene': 'NYNRIN', 'score': 12.77}, {'connected_gene': 'JPH4', 'score': 12.71}, {'connected_gene': 'CBLN3', 'score': 11.94}, {'connected_gene': 'KHNYN', 'score': 11.92}, {'connected_gene': 'TGM1', 'score': 10.16}, {'connected_gene': 'LTB4R', 'score': 9.68}, {'connected_gene': 'DHRS1', 'score': 8.94}]
chr14 GH14I024380 24380452 24381342 0.31 [{'connected_gene': 'KHNYN', 'score': 11.49}, {'connected_gene': 'CBLN3', 'score': 11.46}, {'connected_gene': 'ADCY4', 'score': 11.15}, {'connected_gene': 'NYNRIN', 'score': 0.37}, {'connected_gene': 'NFATC4', 'score': 0.37}]
chr14 GH14I024387 24387852 24389978 0.86 [{'connected_gene': 'KHNYN', 'score': 15.88}, {'connected_gene': 'RNA5SP383', 'score': 15.81}, {'connected_gene': 'TM9SF1', 'score': 14.69}, {'connected_gene': 'LOC102724814', 'score': 12.69}, {'connected_gene': 'RNF31', 'score': 12.51}, {'connected_gene': 'TINF2', 'score': 12.33}, {'connected_gene': 'CIDEB', 'score': 9.89}, {'connected_gene': 'RIPK3', 'score': 7.23}, {'connected_gene': 'ADCY4', 'score': 6.06}, {'connected_gene': 'NYNRIN', 'score': 0.44}, {'connected_gene': 'NFATC4', 'score': 0.34}]
chr14 GH14I024329 24327878 24328400 0.59 [{'connected_gene': 'ADCY4', 'score': 10.11}, {'connected_gene': 'LTB4R', 'score': 9.98}, {'connected_gene': 'PIR32510', 'score': 0.77}]
chr14 GH14I024377 24377235 24378961 0.92 [{'connected_gene': 'ADCY4', 'score': 16.59}, {'connected_gene': 'RIPK3', 'score': 16.03}, {'connected_gene': 'NYNRIN', 'score': 13.03}, {'connected_gene': 'KHNYN', 'score': 11.48}, {'connected_gene': 'CBLN3', 'score': 11.46}, {'connected_gene': 'LTB4R', 'score': 8.86}, {'connected_gene': 'NFATC4', 'score': 0.39}]
chr14 GH14I024375 24375801 24377024 0.83 [{'connected_gene': 'ADCY4', 'score': 16.59}, {'connected_gene': 'RIPK3', 'score': 16.03}, {'connected_gene': 'NYNRIN', 'score': 13.03}, {'connected_gene': 'KHNYN', 'score': 11.26}, {'connected_gene': 'CBLN3', 'score': 11.24}, {'connected_gene': 'DHRS1', 'score': 5.44}, {'connected_gene': 'NFATC4', 'score': 0.39}]
chr14 GH14I024381 24381418 24382361 0.38 [{'connected_gene': 'ADCY4', 'score': 16.47}, {'connected_gene': 'RIPK3', 'score': 15.06}, {'connected_gene': 'KHNYN', 'score': 11.49}, {'connected_gene': 'CBLN3', 'score': 11.48}, {'connected_gene': 'NYNRIN', 'score': 0.37}, {'connected_gene': 'NFATC4', 'score': 0.37}]
chr14 GH14I024333 24333295 24335724 1.93 [{'connected_gene': 'ADCY4', 'score': 560.68}, {'connected_gene': 'RIPK3', 'score': 26.75}, {'connected_gene': 'LTB4R', 'score': 11.29}, {'connected_gene': 'ENSG00000258973', 'score': 0.77}, {'connected_gene': 'PIR32510', 'score': 0.44}]
chr14 GH14I024332 24331754 24331784 0.38 [{'connected_gene': 'ADCY4', 'score': 0.77}, {'connected_gene': 'PIR32510', 'score': 0.44}]
chr14 GH14I024246 24246418 24248071 1.06 [{'connected_gene': 'CHMP4A', 'score': 16.3}, {'connected_gene': 'RABGGTA', 'score': 12.12}, {'connected_gene': 'NOP9', 'score': 11.73}, {'connected_gene': 'DHRS1', 'score': 11.73}, {'connected_gene': 'ENSG00000254692', 'score': 11.26}, {'connected_gene': 'MDP1', 'score': 11.26}, {'connected_gene': 'TM9SF1', 'score': 11.2}, {'connected_gene': 'IPO4', 'score': 10.43}, {'connected_gene': 'ADCY4', 'score': 10.0}, {'connected_gene': 'TSSK4', 'score': 9.82}, {'connected_gene': 'RNF31', 'score': 5.64}, {'connected_gene': 'TINF2', 'score': 0.77}, {'connected_gene': 'TGM1', 'score': 0.37}]
chr14 GH14I024331 24331795 24333124 0.92 [{'connected_gene': 'RIPK3', 'score': 10.55}, {'connected_gene': 'ADCY4', 'score': 9.83}, {'connected_gene': 'SDR39U1', 'score': 4.46}, {'connected_gene': 'ENSG00000258973', 'score': 0.77}, {'connected_gene': 'PIR32510', 'score': 0.44}]
chr14 GH14I024328 24328924 24330400 0.79 [{'connected_gene': 'RIPK3', 'score': 22.39}, {'connected_gene': 'ADCY4', 'score': 14.24}, {'connected_gene': 'LTB4R', 'score': 11.04}, {'connected_gene': 'DHRS1', 'score': 10.04}, {'connected_gene': 'PIR32510', 'score': 0.77}]
chr14 GH14I024339 24339175 24340624 1.62 [{'connected_gene': 'RIPK3', 'score': 569.1}, {'connected_gene': 'GC14M024339', 'score': 550.77}, {'connected_gene': 'ADCY4', 'score': 8.63}, {'connected_gene': 'ENSG00000258973', 'score': 0.77}]
chr14 GH14I024327 24327001 24327800 0.38 [{'connected_gene': 'PIR32510', 'score': 550.77}, {'connected_gene': 'ADCY4', 'score': 9.02}]
chr14 GH14I024277 24277001 24282199 1.21 [{'connected_gene': 'PIR40275', 'score': 550.77}, {'connected_gene': 'DHRS1', 'score': 39.77}, {'connected_gene': 'TINF2', 'score': 16.94}, {'connected_gene': 'NOP9', 'score': 12.92}, {'connected_gene': 'LTB4R2', 'score': 12.85}, {'connected_gene': 'LTB4R', 'score': 12.83}, {'connected_gene': 'CIDEB', 'score': 12.83}, {'connected_gene': 'GMPR2', 'score': 12.16}, {'connected_gene': 'NEDD8-MDP1', 'score': 12.16}, {'connected_gene': 'NEDD8', 'score': 12.16}, {'connected_gene': 'MDP1', 'score': 11.14}, {'connected_gene': 'CHMP4A', 'score': 11.13}, {'connected_gene': 'ENSG00000254692', 'score': 11.13}, {'connected_gene': 'TM9SF1', 'score': 11.1}, {'connected_gene': 'ADCY4', 'score': 10.8}, {'connected_gene': 'IPO4', 'score': 10.53}, {'connected_gene': 'REC8', 'score': 10.39}, {'connected_gene': 'TSSK4', 'score': 10.22}, {'connected_gene': 'IRF9', 'score': 3.96}, {'connected_gene': 'KHNYN', 'score': 2.93}, {'connected_gene': 'PSME1', 'score': 1.59}, {'connected_gene': 'DCAF11', 'score': 1.26}, {'connected_gene': 'LOC102725044', 'score': 0.44}]
chr14 GH14I024353 24353544 24354739 0.84 [{'connected_gene': 'ENSG00000283290', 'score': 550.77}, {'connected_gene': 'GC14M024354', 'score': 550.77}, {'connected_gene': 'RIPK3', 'score': 15.79}, {'connected_gene': 'LTB4R', 'score': 8.26}, {'connected_gene': 'ADCY4', 'score': 7.26}, {'connected_gene': 'DHRS1', 'score': 5.73}, {'connected_gene': 'NFATC4', 'score': 0.39}]

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