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
ENST00000564797 [[10420290, 10420369], [10437857, 10438047], [10479008, 10479110], [10508430, 10508469], [10513437, 10513477]] None
ENST00000562527 [[10479911, 10479979], [10481000, 10481147], [10481234, 10481351], [10508430, 10508469], [10513437, 10513480], [10522724, 10522873], [10524467, 10524529]] [[10524477, 10524529]]
ENST00000396560 [[10479911, 10479979], [10522724, 10522873], [10524467, 10525312], [10527381, 10527506], [10531957, 10532092], [10534220, 10534319], [10551228, 10551386], [10565966, 10566040], [10567335, 10567391], [10567779, 10567846], [10574735, 10574821], [10575692, 10577495]] [[10524477, 10525312], [10527381, 10527506], [10531957, 10532092], [10534220, 10534319], [10551228, 10551386], [10565966, 10566040], [10567335, 10567391], [10567779, 10567846], [10574735, 10574821], [10575692, 10576106]]
ENST00000396559 [[10479911, 10479979], [10513437, 10513480], [10522724, 10522873], [10524467, 10525312], [10527381, 10527506], [10531957, 10532092], [10534220, 10534319], [10551228, 10551386], [10565966, 10566040], [10567335, 10567391], [10574735, 10574821], [10575692, 10577495]] [[10524477, 10525312], [10527381, 10527506], [10531957, 10532092], [10534220, 10534319], [10551228, 10551386], [10565966, 10566040], [10567335, 10567391], [10574735, 10574821], [10575692, 10575756]]
ENST00000561932 [[10479914, 10479979], [10481000, 10481147], [10481234, 10481341], [10508430, 10508469], [10513437, 10513480], [10522724, 10522861]] None
ENST00000562102 [[10479914, 10479979], [10508430, 10508469], [10513437, 10513480], [10522724, 10522873], [10524467, 10524729]] [[10524477, 10524729]]
ENST00000543967 [[10479915, 10479979], [10565966, 10566040], [10567335, 10567391], [10567779, 10567846], [10574735, 10574821], [10575692, 10576343]] [[10565982, 10566040], [10567335, 10567391], [10567779, 10567846], [10574735, 10574821], [10575692, 10576106]]
ENST00000569939 [[10479917, 10479979], [10481000, 10481147], [10481234, 10481351], [10522724, 10522873], [10524467, 10524556]] [[10524477, 10524556]]
ENST00000569900 [[10479917, 10479979], [10481000, 10481147], [10481234, 10481351], [10524467, 10524700]] [[10524477, 10524700]]
ENST00000535850 [[10479917, 10479979], [10522724, 10522873], [10524467, 10525312], [10527381, 10527506], [10531957, 10532092], [10534220, 10534319], [10567335, 10567391], [10567779, 10567846], [10574735, 10574821], [10575692, 10575975]] [[10524477, 10525312], [10527381, 10527506], [10531957, 10532092], [10534220, 10534319], [10567335, 10567391], [10567779, 10567807]]
ENST00000566316 [[10479914, 10479979], [10481000, 10481147], [10481234, 10481598]] None
ENST00000562396 [[10479917, 10481598]] None
ENST00000570163 [[10480948, 10481147], [10481234, 10481594]] None
ENST00000568027 [[10522757, 10522873], [10524467, 10525312], [10527381, 10527506], [10531957, 10532092], [10534220, 10534319], [10565966, 10566040], [10567335, 10567391], [10567779, 10567846], [10574735, 10574821], [10575692, 10577495]] [[10524477, 10525312], [10527381, 10527506], [10531957, 10532092], [10534220, 10534319], [10565966, 10565969]]
ENST00000356427 [[10524451, 10525312], [10527381, 10527506], [10531957, 10532092], [10534220, 10534319], [10551228, 10551386], [10565966, 10566040], [10567335, 10567391], [10567779, 10567846], [10574735, 10574821], [10575692, 10577494]] [[10524477, 10525312], [10527381, 10527506], [10531957, 10532092], [10534220, 10534319], [10551228, 10551386], [10565966, 10566040], [10567335, 10567391], [10567779, 10567846], [10574735, 10574821], [10575692, 10576106]]
ENST00000324570 [[10524477, 10525312], [10527381, 10527506], [10531957, 10532092], [10534220, 10534319], [10551228, 10551386], [10565966, 10566040], [10567335, 10567391], [10574735, 10574821], [10575692, 10577494]] [[10524477, 10525312], [10527381, 10527506], [10531957, 10532092], [10534220, 10534319], [10551228, 10551386], [10565966, 10566040], [10567335, 10567391], [10574735, 10574821], [10575692, 10575756]]
ENST00000565616 [[10547878, 10548196], [10551176, 10551468]] None
ENST00000565450 [[10565780, 10566040], [10567335, 10567391], [10567779, 10567846], [10574735, 10574820]] None
NR_045816 [[10479911, 10479979], [10522724, 10522873], [10524467, 10525312], [10527381, 10527506], [10531957, 10532092], [10534220, 10534319], [10567335, 10567391], [10567779, 10567846], [10574735, 10574821], [10575692, 10577495]] None
NM_024997 [[10479911, 10479979], [10522724, 10522873], [10524467, 10525312], [10527381, 10527506], [10531957, 10532092], [10534220, 10534319], [10551228, 10551386], [10565966, 10566040], [10567335, 10567391], [10567779, 10567846], [10574735, 10574821], [10575692, 10577495]] [[10524477, 10525312], [10527381, 10527506], [10531957, 10532092], [10534220, 10534319], [10551228, 10551386], [10565966, 10566040], [10567335, 10567391], [10567779, 10567846], [10574735, 10574821], [10575692, 10576106]]
NM_001256160 [[10479911, 10479979], [10513437, 10513480], [10522724, 10522873], [10524467, 10525312], [10527381, 10527506], [10531957, 10532092], [10534220, 10534319], [10551228, 10551386], [10565966, 10566040], [10567335, 10567391], [10574735, 10574821], [10575692, 10577495]] [[10524477, 10525312], [10527381, 10527506], [10531957, 10532092], [10534220, 10534319], [10551228, 10551386], [10565966, 10566040], [10567335, 10567391], [10574735, 10574821], [10575692, 10575756]]
NR_045815 [[10522724, 10522873], [10524467, 10525312], [10527381, 10527506], [10531957, 10532092], [10534220, 10534319], [10565966, 10566040], [10567335, 10567391], [10567779, 10567846], [10574735, 10574821], [10575692, 10577495]] None
Promoter
Chrom Start End Description
chr16 10479876 10479887 CAGE_peak_2_at_ATF7IP2_5end
chr16 10479906 10479925 CAGE_peak_1_at_ATF7IP2_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr16 GH16I010385 10385404 10387736 2.07 [{'connected_gene': 'ATF7IP2', 'score': 574.36}, {'connected_gene': 'PRM2', 'score': 12.13}, {'connected_gene': 'HNRNPCP4', 'score': 10.55}, {'connected_gene': 'PRM1', 'score': 9.94}, {'connected_gene': 'GC16P010405', 'score': 0.37}, {'connected_gene': 'ENSG00000260756', 'score': 0.29}]
chr16 GH16I010356 10356475 10358441 0.9 [{'connected_gene': 'ATF7IP2', 'score': 29.04}, {'connected_gene': 'EMP2', 'score': 4.56}, {'connected_gene': 'ENSG00000260756', 'score': 0.77}, {'connected_gene': 'GC16P010405', 'score': 0.25}]
chr16 GH16I010312 10312592 10313744 0.91 [{'connected_gene': 'ATF7IP2', 'score': 0.39}, {'connected_gene': 'LOC105371078', 'score': 0.21}]
chr16 GH16I010321 10321568 10322381 0.59 [{'connected_gene': 'ATF7IP2', 'score': 0.77}, {'connected_gene': 'LOC105371078', 'score': 0.2}]
chr16 GH16I010296 10296659 10299333 1.31 [{'connected_gene': 'ATF7IP2', 'score': 0.31}, {'connected_gene': 'LOC105371078', 'score': 0.25}]
chr16 GH16I010322 10322595 10324452 0.91 [{'connected_gene': 'ATF7IP2', 'score': 0.77}, {'connected_gene': 'LOC105371078', 'score': 0.19}]
chr16 GH16I010812 10812567 10812979 0.84 [{'connected_gene': 'ATF7IP2', 'score': 5.61}, {'connected_gene': 'NUBP1', 'score': 4.41}, {'connected_gene': 'TVP23A', 'score': 0.44}, {'connected_gene': 'PIR44837', 'score': 0.23}, {'connected_gene': 'GC16P010485', 'score': 0.05}]
chr16 GH16I010479 10479784 10479933 0.31 [{'connected_gene': 'ATF7IP2', 'score': 11.65}, {'connected_gene': 'GC16P010485', 'score': 0.44}, {'connected_gene': 'ENSG00000279662', 'score': 0.29}]
chr16 GH16I010361 10361638 10363553 1.24 [{'connected_gene': 'ATF7IP2', 'score': 34.39}, {'connected_gene': 'ENSG00000260756', 'score': 0.44}, {'connected_gene': 'GC16P010405', 'score': 0.26}]
chr16 GH16I010329 10329104 10330573 0.97 [{'connected_gene': 'ATF7IP2', 'score': 0.77}, {'connected_gene': 'ENSG00000260756', 'score': 0.34}]
chr16 GH16I010327 10327904 10328800 1.04 [{'connected_gene': 'ATF7IP2', 'score': 550.77}, {'connected_gene': 'ENSG00000260756', 'score': 0.34}]
chr16 GH16I010334 10334261 10334774 0.59 [{'connected_gene': 'ATF7IP2', 'score': 0.44}, {'connected_gene': 'ENSG00000260756', 'score': 0.37}]
chr16 GH16I010126 10126498 10127481 0.43 [{'connected_gene': 'GRIN2A', 'score': 33.84}, {'connected_gene': 'ATF7IP2', 'score': 1.52}, {'connected_gene': 'GC16M010114', 'score': 0.39}, {'connected_gene': 'GC16P010176', 'score': 0.25}]
chr16 GH16I010331 10331959 10333748 0.74 [{'connected_gene': 'CLEC16A', 'score': 5.09}, {'connected_gene': 'ATF7IP2', 'score': 0.44}, {'connected_gene': 'ENSG00000260756', 'score': 0.37}]
chr16 GH16I010537 10537064 10537213 0.74 [{'connected_gene': 'EMP2', 'score': 6.2}, {'connected_gene': 'ATF7IP2', 'score': 5.05}, {'connected_gene': 'ENSG00000256013', 'score': 0.44}, {'connected_gene': 'ENSG00000260310', 'score': 0.26}, {'connected_gene': 'GC16P010485', 'score': 0.23}]
chr16 GH16I010455 10455336 10455414 0.22 [{'connected_gene': 'EMP2', 'score': 3.84}, {'connected_gene': 'ENSG00000279662', 'score': 0.44}, {'connected_gene': 'GC16P010485', 'score': 0.29}, {'connected_gene': 'ATF7IP2', 'score': 0.13}]
chr16 GH16I010341 10341521 10342520 0.67 [{'connected_gene': 'EMP2', 'score': 6.16}, {'connected_gene': 'ENSG00000260756', 'score': 0.39}, {'connected_gene': 'ATF7IP2', 'score': 0.37}]
chr16 GH16I010280 10280154 10280503 0.22 [{'connected_gene': 'LOC105371078', 'score': 0.31}, {'connected_gene': 'ATF7IP2', 'score': 0.25}]
chr16 GH16I010275 10275004 10276285 0.56 [{'connected_gene': 'LOC105371078', 'score': 0.34}, {'connected_gene': 'ATF7IP2', 'score': 0.23}]
chr16 GH16I010920 10920684 10925183 1.12 [{'connected_gene': 'ENSG00000262222', 'score': 7.35}, {'connected_gene': 'ATF7IP2', 'score': 4.35}, {'connected_gene': 'GC16M010929', 'score': 0.44}, {'connected_gene': 'PIR39040', 'score': 0.44}, {'connected_gene': 'GC16P010903', 'score': 0.34}, {'connected_gene': 'CIITA', 'score': 0.22}, {'connected_gene': 'GC16P010485', 'score': 0.05}]
chr16 GH16I010590 10590914 10593878 0.31 [{'connected_gene': 'ENSG00000256013', 'score': 10.98}, {'connected_gene': 'ATF7IP2', 'score': 4.69}, {'connected_gene': 'EMP2', 'score': 0.39}, {'connected_gene': 'LOC105371079', 'score': 0.15}, {'connected_gene': 'GC16P010485', 'score': 0.14}, {'connected_gene': 'TEKT5', 'score': 0.1}]
chr16 GH16I010306 10306362 10306748 0.82 [{'connected_gene': 'ENSG00000256013', 'score': 10.96}, {'connected_gene': 'ATF7IP2', 'score': 0.37}, {'connected_gene': 'LOC105371078', 'score': 0.23}]
chr16 GH16I010308 10308167 10309727 0.86 [{'connected_gene': 'ENSG00000256013', 'score': 11.16}, {'connected_gene': 'ATF7IP2', 'score': 0.37}, {'connected_gene': 'LOC105371078', 'score': 0.22}]
chr16 GH16I010300 10300813 10301572 0.79 [{'connected_gene': 'ENSG00000256013', 'score': 10.96}, {'connected_gene': 'ATF7IP2', 'score': 0.31}, {'connected_gene': 'LOC105371078', 'score': 0.25}]
chr16 GH16I010318 10318481 10319098 0.93 [{'connected_gene': 'ENSG00000256013', 'score': 10.38}, {'connected_gene': 'ATF7IP2', 'score': 0.44}, {'connected_gene': 'LOC105371078', 'score': 0.2}]
chr16 GH16I010405 10405044 10405933 0.88 [{'connected_gene': 'GC16P010405', 'score': 550.77}, {'connected_gene': 'ATF7IP2', 'score': 24.1}, {'connected_gene': 'ENSG00000260756', 'score': 0.23}]
chr16 GH16I010485 10485241 10486525 0.8 [{'connected_gene': 'GC16P010485', 'score': 550.77}, {'connected_gene': 'ATF7IP2', 'score': 11.31}, {'connected_gene': 'GC16P010496', 'score': 0.39}]
chr16 GH16I010339 10339695 10340630 0.7 [{'connected_gene': 'ENSG00000260756', 'score': 0.39}, {'connected_gene': 'ATF7IP2', 'score': 0.39}]
chr16 GH16I010343 10343244 10343393 0.85 [{'connected_gene': 'ENSG00000260756', 'score': 0.44}, {'connected_gene': 'ATF7IP2', 'score': 0.37}]
chr16 GH16I010382 10382073 10383023 1.06 [{'connected_gene': 'GC16P010405', 'score': 0.34}, {'connected_gene': 'ENSG00000260756', 'score': 0.31}, {'connected_gene': 'ATF7IP2', 'score': 0.22}]
chr16 GH16I010390 10390479 10390894 0.64 [{'connected_gene': 'GC16P010405', 'score': 0.37}, {'connected_gene': 'ENSG00000260756', 'score': 0.28}, {'connected_gene': 'ATF7IP2', 'score': 0.21}]
chr16 GH16I010342 10342578 10342923 0.2 [{'connected_gene': 'ENSG00000260756', 'score': 0.39}, {'connected_gene': 'ATF7IP2', 'score': 0.37}]
chr16 GH16I010256 10256491 10258453 1.13 [{'connected_gene': 'ENSG00000256013', 'score': 10.42}, {'connected_gene': 'GRIN2A', 'score': 10.05}, {'connected_gene': 'LOC105371078', 'score': 0.77}, {'connected_gene': 'ATF7IP2', 'score': 0.2}]
chr16 GH16I010575 10575710 10581896 2.44 [{'connected_gene': 'ENSG00000260310', 'score': 560.33}, {'connected_gene': 'EMP2', 'score': 553.45}, {'connected_gene': 'SOCS1', 'score': 14.87}, {'connected_gene': 'HNRNPCP4', 'score': 14.29}, {'connected_gene': 'ENSG00000256013', 'score': 11.63}, {'connected_gene': 'NUBP1', 'score': 10.39}, {'connected_gene': 'LOC400499', 'score': 5.3}, {'connected_gene': 'ATF7IP2', 'score': 1.3}, {'connected_gene': 'GC16P010485', 'score': 0.16}, {'connected_gene': 'TEKT5', 'score': 0.1}]
chr16 GH16I010497 10497749 10498088 0.49 [{'connected_gene': 'GC16P010496', 'score': 550.77}, {'connected_gene': 'RNU6-633P', 'score': 550.77}, {'connected_gene': 'ATF7IP2', 'score': 10.13}, {'connected_gene': 'GC16P010485', 'score': 0.39}, {'connected_gene': 'LINC01290', 'score': 0.29}]