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
ENST00000241436 [[74807580, 74807739], [74842834, 74842982], [74848296, 74848416], [74865164, 74865317], [74869562, 74869694], [74872604, 74872758], [74877033, 74877273], [74879117, 74879242], [74880584, 74880751], [74882850, 74882883], [74886168, 74886265], [74889702, 74889874], [74892046, 74893003], [74893571, 74893614], [74893758, 74896969]] [[74842847, 74842982], [74848296, 74848416], [74865164, 74865317], [74869562, 74869694], [74872604, 74872758], [74877033, 74877273], [74879117, 74879242], [74880584, 74880751], [74882850, 74882883], [74886168, 74886265], [74889702, 74889874], [74892046, 74893003], [74893571, 74893614], [74893758, 74893843]]
ENST00000352007 [[74807656, 74807739], [74842834, 74842982], [74848296, 74848416], [74865164, 74865317], [74869562, 74869694], [74872604, 74872758], [74877033, 74877273], [74892046, 74893003], [74893571, 74893614], [74893758, 74895646]] [[74842847, 74842982], [74848296, 74848416], [74865164, 74865317], [74869562, 74869694], [74872604, 74872758], [74877033, 74877273], [74892046, 74893003], [74893571, 74893614], [74893758, 74893843]]
ENST00000503479 [[74807669, 74807739], [74848296, 74848416], [74865164, 74865317], [74869562, 74869694], [74872604, 74872758], [74877033, 74877273], [74879117, 74879242], [74880584, 74880751], [74882850, 74882883], [74886168, 74886265], [74889790, 74889874], [74892046, 74893003], [74893571, 74893614], [74893758, 74893865]] [[74848359, 74848416], [74865164, 74865317], [74869562, 74869694], [74872604, 74872758], [74877033, 74877273], [74879117, 74879242], [74880584, 74880751], [74882850, 74882883], [74886168, 74886265], [74889790, 74889823]]
ENST00000510815 [[74807715, 74807739], [74848296, 74848416], [74864501, 74864615], [74865164, 74865317], [74869562, 74869694], [74872604, 74872758], [74877033, 74877273], [74879117, 74879242], [74880584, 74880751], [74882850, 74882883], [74886168, 74886265], [74889790, 74889874], [74892046, 74893003], [74893571, 74893614], [74893758, 74893992]] [[74865179, 74865317], [74869562, 74869694], [74872604, 74872758], [74877033, 74877273], [74879117, 74879242], [74880584, 74880751], [74882850, 74882883], [74886168, 74886265], [74889790, 74889823]]
ENST00000506928 [[74807715, 74807739], [74842834, 74842982], [74848296, 74848416], [74865164, 74865317], [74869562, 74869694], [74872604, 74872758], [74877033, 74877273], [74877862, 74877948], [74879117, 74879242], [74880584, 74880751], [74882850, 74882883], [74886168, 74886265], [74889702, 74889874], [74892046, 74893003], [74893571, 74893614], [74893758, 74894927]] None
ENST00000505774 [[74807889, 74808042], [74842834, 74842982], [74848296, 74848416], [74864501, 74864615], [74865164, 74865194]] [[74842847, 74842982], [74848296, 74848416], [74864501, 74864519]]
ENST00000514296 [[74807893, 74808771], [74830652, 74830789], [74842834, 74842982], [74848296, 74848416], [74865164, 74865317], [74869562, 74869662]] [[74842847, 74842982], [74848296, 74848416], [74865164, 74865317], [74869562, 74869578]]
ENST00000508867 [[74842834, 74842982], [74848296, 74848416], [74865164, 74865317], [74869562, 74869694], [74872604, 74872758], [74877033, 74878790]] None
ENST00000515295 [[74842834, 74842982], [74848296, 74848416], [74865164, 74865317], [74869562, 74869694], [74872604, 74872758], [74877033, 74877273], [74879117, 74879242], [74880584, 74880751], [74882850, 74882883], [74886168, 74886334]] [[74842847, 74842982], [74848296, 74848416], [74865164, 74865317], [74869562, 74869694], [74872604, 74872758], [74877033, 74877273], [74879117, 74879242], [74880584, 74880751], [74882850, 74882883], [74886168, 74886328]]
ENST00000514141 [[74842834, 74842982], [74848296, 74848416], [74865164, 74865317], [74869562, 74869694], [74872604, 74872758], [74877033, 74877273], [74879117, 74879242], [74880584, 74880751], [74882850, 74882883], [74889702, 74889874], [74892046, 74893003], [74893571, 74893614], [74893758, 74895659]] [[74842847, 74842982], [74848296, 74848416], [74865164, 74865317], [74869562, 74869694], [74872604, 74872758], [74877033, 74877273], [74879117, 74879242], [74880584, 74880751], [74882850, 74882883], [74889702, 74889727]]
ENST00000511527 [[74842847, 74842982], [74848296, 74848416], [74864501, 74864615], [74865164, 74865317], [74869562, 74869694], [74872604, 74872758], [74877033, 74877273], [74879117, 74879242], [74880584, 74880751], [74882850, 74882883], [74886168, 74886265], [74893571, 74893614], [74893758, 74893839]] [[74842847, 74842982], [74848296, 74848416], [74864501, 74864519]]
ENST00000508526 [[74842847, 74842982], [74848296, 74848416], [74865164, 74865317], [74869562, 74869694], [74872604, 74872758], [74877033, 74877273], [74892046, 74893003], [74893571, 74893614], [74893758, 74893843]] [[74842847, 74842982], [74848296, 74848416], [74865164, 74865317], [74869562, 74869694], [74872604, 74872758], [74877033, 74877273], [74892046, 74893003], [74893571, 74893614], [74893758, 74893843]]
ENST00000509126 [[74842847, 74842982], [74848296, 74848416], [74865164, 74865317], [74869562, 74869694], [74872604, 74872758], [74877033, 74877273], [74879117, 74879242], [74880584, 74880751], [74882850, 74882883], [74886168, 74886265], [74892046, 74893003], [74893571, 74893614], [74893758, 74893843]] [[74842847, 74842982], [74848296, 74848416], [74865164, 74865317], [74869562, 74869694], [74872604, 74872758], [74877033, 74877273], [74879117, 74879242], [74880584, 74880751], [74882850, 74882883], [74886168, 74886265], [74892046, 74892160]]
ENST00000504026 [[74842847, 74842982], [74848296, 74848416], [74865164, 74865317], [74869562, 74869694], [74872604, 74872758], [74877033, 74877273], [74879117, 74879242], [74880584, 74880751], [74882850, 74882883], [74886168, 74886265], [74893571, 74893614], [74893758, 74893843]] [[74842847, 74842982], [74848296, 74848416], [74865164, 74865317], [74869562, 74869694], [74872604, 74872758], [74877033, 74877273], [74879117, 74879242], [74880584, 74880751], [74882850, 74882883], [74886168, 74886265], [74893571, 74893601]]
ENST00000380481 [[74842847, 74842982], [74848296, 74848416], [74864501, 74864615], [74865164, 74865317], [74869562, 74869694], [74872604, 74872758], [74877033, 74877273], [74879117, 74879242], [74880584, 74880751], [74882850, 74882883], [74886168, 74886265], [74889702, 74889874], [74892046, 74893003], [74893571, 74893614], [74893758, 74893843]] [[74865179, 74865317], [74869562, 74869694], [74872604, 74872758], [74877033, 74877273], [74879117, 74879242], [74880584, 74880751], [74882850, 74882883], [74886168, 74886265], [74889702, 74889874], [74892046, 74893003], [74893571, 74893614], [74893758, 74893843]]
ENST00000505975 [[74842847, 74842982], [74848296, 74848416], [74864501, 74864615], [74865164, 74865317], [74869562, 74869694], [74872604, 74872758], [74877033, 74877273], [74879117, 74879242], [74880584, 74880751], [74882850, 74882883], [74886168, 74886265], [74889702, 74889874], [74892046, 74893003], [74893571, 74893614], [74893758, 74893843]] [[74842847, 74842982], [74848296, 74848416], [74864501, 74864519]]
ENST00000507073 [[74848295, 74848416], [74864530, 74864615], [74865164, 74865317], [74869562, 74869694], [74872604, 74872742]] None
ENST00000505069 [[74892938, 74893003], [74893571, 74893865]] None
ENST00000502567 [[74893241, 74893614], [74893758, 74893813]] None
NM_001345921 [[74807574, 74807739], [74848296, 74848416], [74865164, 74865317], [74869562, 74869694], [74872604, 74872758], [74877033, 74877273], [74879117, 74879242], [74880584, 74880751], [74882850, 74882883], [74886168, 74886265], [74889702, 74889874], [74892046, 74893003], [74893571, 74893614], [74893758, 74901645]] [[74848359, 74848416], [74865164, 74865317], [74869562, 74869694], [74872604, 74872758], [74877033, 74877273], [74879117, 74879242], [74880584, 74880751], [74882850, 74882883], [74886168, 74886265], [74889702, 74889874], [74892046, 74893003], [74893571, 74893614], [74893758, 74893843]]
NR_144315 [[74807574, 74807739], [74842834, 74842982], [74848296, 74848416], [74865164, 74865317], [74869562, 74869694], [74872604, 74872758], [74877033, 74877273], [74879117, 74879242], [74880584, 74880751], [74882850, 74882883], [74886168, 74886265], [74892046, 74893003], [74893571, 74893614], [74893758, 74901645]] None
NM_016218 [[74807574, 74807739], [74842834, 74842982], [74848296, 74848416], [74865164, 74865317], [74869562, 74869694], [74872604, 74872758], [74877033, 74877273], [74879117, 74879242], [74880584, 74880751], [74882850, 74882883], [74886168, 74886265], [74889702, 74889874], [74892046, 74893003], [74893571, 74893614], [74893758, 74901645]] [[74842847, 74842982], [74848296, 74848416], [74865164, 74865317], [74869562, 74869694], [74872604, 74872758], [74877033, 74877273], [74879117, 74879242], [74880584, 74880751], [74882850, 74882883], [74886168, 74886265], [74889702, 74889874], [74892046, 74893003], [74893571, 74893614], [74893758, 74893843]]
NM_001345922 [[74807574, 74807739], [74842834, 74842982], [74848296, 74848416], [74864501, 74864615], [74865164, 74865317], [74869562, 74869694], [74872604, 74872758], [74877033, 74877273], [74879117, 74879242], [74880584, 74880751], [74882850, 74882883], [74886168, 74886265], [74889702, 74889874], [74892046, 74893003], [74893571, 74893614], [74893758, 74901645]] [[74865179, 74865317], [74869562, 74869694], [74872604, 74872758], [74877033, 74877273], [74879117, 74879242], [74880584, 74880751], [74882850, 74882883], [74886168, 74886265], [74889702, 74889874], [74892046, 74893003], [74893571, 74893614], [74893758, 74893843]]
Promoter
Chrom Start End Description
chr5 74807698 74807724 CAGE_peak_1_at_POLK_5end
chr5 74807729 74807740 CAGE_peak_2_at_POLK_5end
chr5 74807886 74807926 CAGE_peak_6_at_POLK_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I121476 121476888 121478484 0.58 [{'connected_gene': 'STXBP5L', 'score': 8.73}, {'connected_gene': 'RPL7AP11', 'score': 0.37}, {'connected_gene': 'POLQ', 'score': 0.2}, {'connected_gene': 'LOC100422044', 'score': 0.13}, {'connected_gene': 'GC03M121324', 'score': 0.03}]
chr3 GH03I121548 121548351 121549544 0.82 [{'connected_gene': 'STXBP5L', 'score': 8.15}, {'connected_gene': 'POLQ', 'score': 0.77}, {'connected_gene': 'ARGFX', 'score': 0.39}, {'connected_gene': 'GC03M121324', 'score': 0.04}]
chr5 GH05I074651 74651353 74652634 0.9 [{'connected_gene': 'ENC1', 'score': 27.78}, {'connected_gene': 'POLK', 'score': 5.42}, {'connected_gene': 'HEXB', 'score': 0.39}, {'connected_gene': 'RNU6-658P', 'score': 0.19}, {'connected_gene': 'GC05M074726', 'score': 0.19}]
chr3 GH03I122105 122105714 122105863 0.51 [{'connected_gene': 'CASR', 'score': 10.73}, {'connected_gene': 'POLQ', 'score': 10.33}, {'connected_gene': 'ILDR1', 'score': 0.25}, {'connected_gene': 'CD86', 'score': 0.23}]
chr3 GH03I121481 121481898 121483821 0.49 [{'connected_gene': 'RPL7AP11', 'score': 0.39}, {'connected_gene': 'POLQ', 'score': 0.21}, {'connected_gene': 'LOC100422044', 'score': 0.13}, {'connected_gene': 'GC03M121324', 'score': 0.03}]
chr3 GH03I121431 121431784 121432923 0.85 [{'connected_gene': 'RPL7AP11', 'score': 0.21}, {'connected_gene': 'LOC100422044', 'score': 0.18}, {'connected_gene': 'POLQ', 'score': 0.14}, {'connected_gene': 'GC03M121324', 'score': 0.03}]
chr3 GH03I121599 121599775 121603764 0.43 [{'connected_gene': 'POLQ', 'score': 10.74}, {'connected_gene': 'IQCB1', 'score': 4.74}, {'connected_gene': 'FBXO40', 'score': 0.44}, {'connected_gene': 'RN7SL172P', 'score': 0.23}, {'connected_gene': 'GC03M121324', 'score': 0.05}]
chr3 GH03I121544 121544639 121547108 1.99 [{'connected_gene': 'POLQ', 'score': 550.77}, {'connected_gene': 'IQCB1', 'score': 26.38}, {'connected_gene': 'GOLGB1', 'score': 21.69}, {'connected_gene': 'LOC102723582', 'score': 11.27}, {'connected_gene': 'GTF2E1', 'score': 10.86}, {'connected_gene': 'STXBP5L', 'score': 8.57}, {'connected_gene': 'RPL7AP11', 'score': 0.23}, {'connected_gene': 'GC03M121324', 'score': 0.04}]
chr3 GH03I121507 121507814 121509045 0.2 [{'connected_gene': 'POLQ', 'score': 10.93}, {'connected_gene': 'STXBP5L', 'score': 7.89}, {'connected_gene': 'RPL7AP11', 'score': 0.39}, {'connected_gene': 'GC03M121324', 'score': 0.03}]
chr5 GH05I074593 74593787 74597712 1.03 [{'connected_gene': 'POLK', 'score': 4.26}, {'connected_gene': 'HEXB', 'score': 0.26}, {'connected_gene': 'LINC01331', 'score': 0.22}]
chr3 GH03I121574 121574574 121574683 0.8 [{'connected_gene': 'POLQ', 'score': 12.25}, {'connected_gene': 'CSTA', 'score': 10.45}, {'connected_gene': 'ARGFX', 'score': 0.39}, {'connected_gene': 'FBXO40', 'score': 0.37}, {'connected_gene': 'GC03M121324', 'score': 0.04}]
chr5 GH05I075260 75260289 75263111 0.56 [{'connected_gene': 'GCNT4', 'score': 20.59}, {'connected_gene': 'POLK', 'score': 4.36}, {'connected_gene': 'ANKRD31', 'score': 0.34}, {'connected_gene': 'GC05M075287', 'score': 0.31}]
chr5 GH05I075466 75466161 75467045 0.58 [{'connected_gene': 'GCNT4', 'score': 12.02}, {'connected_gene': 'RNU6-680P', 'score': 9.71}, {'connected_gene': 'GC05P075464', 'score': 0.77}, {'connected_gene': 'POLK', 'score': 0.26}, {'connected_gene': 'COL4A3BP', 'score': 0.25}]
chr5 GH05I075335 75335057 75342822 2.1 [{'connected_gene': 'HMGCR', 'score': 550.77}, {'connected_gene': 'POC5', 'score': 13.4}, {'connected_gene': 'RAP1BL', 'score': 11.81}, {'connected_gene': 'RPS26P26', 'score': 10.99}, {'connected_gene': 'ANKDD1B', 'score': 9.35}, {'connected_gene': 'GCNT4', 'score': 6.89}, {'connected_gene': 'POLK', 'score': 5.73}, {'connected_gene': 'ENSG00000247372', 'score': 0.77}, {'connected_gene': 'GC05P075337', 'score': 0.77}, {'connected_gene': 'ENSG00000271815', 'score': 0.34}]
chr3 GH03I122111 122111043 122112274 0.46 [{'connected_gene': 'CSTA', 'score': 11.15}, {'connected_gene': 'CASR', 'score': 11.01}, {'connected_gene': 'POLQ', 'score': 10.32}, {'connected_gene': 'RPL7AP11', 'score': 3.82}, {'connected_gene': 'ILDR1', 'score': 0.23}, {'connected_gene': 'CD86', 'score': 0.22}]
chr5 GH05I075677 75677295 75678866 0.95 [{'connected_gene': 'POC5', 'score': 12.18}, {'connected_gene': 'ANKDD1B', 'score': 11.73}, {'connected_gene': 'POLK', 'score': 2.11}, {'connected_gene': 'COL4A3BP', 'score': 1.26}, {'connected_gene': 'ANKRD31', 'score': 1.22}, {'connected_gene': 'RNU6-680P', 'score': 0.29}]
chr5 GH05I075565 75565416 75568970 1.43 [{'connected_gene': 'POC5', 'score': 12.82}, {'connected_gene': 'RPS26P26', 'score': 11.73}, {'connected_gene': 'COL4A3BP', 'score': 11.05}, {'connected_gene': 'ENSG00000271815', 'score': 6.43}, {'connected_gene': 'ANKRD31', 'score': 2.83}, {'connected_gene': 'POLK', 'score': 2.04}, {'connected_gene': 'RNU7-175P', 'score': 0.31}, {'connected_gene': 'ENSG00000248881', 'score': 0.29}]
chr5 GH05I074764 74764568 74768503 2.3 [{'connected_gene': 'NSA2', 'score': 667.68}, {'connected_gene': 'GFM2', 'score': 557.52}, {'connected_gene': 'RPS26P26', 'score': 28.25}, {'connected_gene': 'POLK', 'score': 23.58}, {'connected_gene': 'POC5', 'score': 11.82}, {'connected_gene': 'ENSG00000272040', 'score': 11.22}, {'connected_gene': 'RNU6-658P', 'score': 10.3}, {'connected_gene': 'FAM169A', 'score': 6.87}]
chr5 GH05I075523 75523637 75526800 1 [{'connected_gene': 'COL4A3BP', 'score': 11.23}, {'connected_gene': 'ANKDD1B', 'score': 5.04}, {'connected_gene': 'POLK', 'score': 0.39}, {'connected_gene': 'GC05M075540', 'score': 0.39}]
chr5 GH05I075509 75509200 75514610 2.08 [{'connected_gene': 'COL4A3BP', 'score': 561.58}, {'connected_gene': 'POLK', 'score': 555.05}, {'connected_gene': 'GCNT4', 'score': 11.68}, {'connected_gene': 'ENSG00000247372', 'score': 10.3}, {'connected_gene': 'POC5', 'score': 8.49}, {'connected_gene': 'ENSG00000271815', 'score': 6.46}]
chr5 GH05I075558 75558214 75560130 0.69 [{'connected_gene': 'COL4A3BP', 'score': 10.89}, {'connected_gene': 'GCNT4', 'score': 6.19}, {'connected_gene': 'RNU7-175P', 'score': 0.34}, {'connected_gene': 'ENSG00000248881', 'score': 0.26}, {'connected_gene': 'POLK', 'score': 0.25}]
chr5 GH05I075533 75533292 75534515 0.2 [{'connected_gene': 'COL4A3BP', 'score': 11.17}, {'connected_gene': 'POC5', 'score': 6.85}, {'connected_gene': 'GCNT4', 'score': 6.53}, {'connected_gene': 'GC05M075540', 'score': 0.77}, {'connected_gene': 'POLK', 'score': 0.34}]
chr5 GH05I074916 74916270 74918083 1.22 [{'connected_gene': 'RPS26P26', 'score': 20.8}, {'connected_gene': 'POLK', 'score': 10.34}, {'connected_gene': 'LOC100131411', 'score': 0.39}, {'connected_gene': 'LOC105379039', 'score': 0.37}, {'connected_gene': 'ENSG00000249856', 'score': 0.14}]
chr5 GH05I075910 75910359 75910756 0.25 [{'connected_gene': 'ENSG00000249301', 'score': 550.77}, {'connected_gene': 'BIN2P2', 'score': 550.77}, {'connected_gene': 'IQGAP2', 'score': 2.36}, {'connected_gene': 'COL4A3BP', 'score': 2.12}, {'connected_gene': 'POLK', 'score': 1.37}, {'connected_gene': 'LOC391798', 'score': 0.18}]
chr5 GH05I076333 76332776 76332865 0.38 [{'connected_gene': 'PIR42219', 'score': 550.77}, {'connected_gene': 'GC05P076333', 'score': 550.77}, {'connected_gene': 'POLK', 'score': 11.99}, {'connected_gene': 'IQGAP2', 'score': 11.92}, {'connected_gene': 'LOC105379042', 'score': 11.79}, {'connected_gene': 'POC5', 'score': 11.02}, {'connected_gene': 'ENSG00000272040', 'score': 10.93}, {'connected_gene': 'SNRPCP2', 'score': 0.26}, {'connected_gene': 'SV2C', 'score': 0.07}]
chr5 GH05I075465 75465596 75466000 0.72 [{'connected_gene': 'GC05P075464', 'score': 0.77}, {'connected_gene': 'COL4A3BP', 'score': 0.25}, {'connected_gene': 'POLK', 'score': 0.25}]

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