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
ENST00000261880 [[67493370, 67495236], [67495885, 67495935], [67496381, 67496486], [67500899, 67500996], [67501799, 67501882], [67524151, 67524235], [67528316, 67528406], [67528745, 67528842], [67528967, 67529158], [67546896, 67547074]] [[67495158, 67495236], [67495885, 67495935], [67496381, 67496486], [67500899, 67500996], [67501799, 67501882], [67524151, 67524235], [67528316, 67528406], [67528745, 67528842], [67528967, 67529158], [67546896, 67546969]]
ENST00000538028 [[67494010, 67495236], [67495885, 67495935], [67496381, 67496486], [67500899, 67500996], [67501799, 67501882], [67512826, 67512878], [67513376, 67513540]] None
ENST00000561452 [[67494044, 67495236], [67495885, 67495935], [67496381, 67496486], [67500899, 67500996], [67501799, 67501882], [67524151, 67524235], [67528316, 67528406], [67528745, 67528842], [67528967, 67529158], [67546751, 67547013]] [[67495158, 67495236], [67495885, 67495935], [67496381, 67496486], [67500899, 67500996], [67501799, 67501882], [67524151, 67524235], [67528316, 67528406], [67528745, 67528779]]
ENST00000542650 [[67495077, 67495236], [67495885, 67495935], [67496381, 67496486], [67500899, 67500996], [67501799, 67501882], [67524151, 67524235], [67528316, 67528406], [67528745, 67528842], [67528967, 67529158], [67547474, 67547533]] [[67495158, 67495236], [67495885, 67495935], [67496381, 67496486], [67500899, 67500996], [67501799, 67501882], [67524151, 67524235], [67528316, 67528406], [67528745, 67528779]]
ENST00000558725 [[67519036, 67519288], [67524151, 67524235], [67528316, 67528406], [67528745, 67528842], [67528967, 67529158], [67546896, 67546992]] None
ENST00000560362 [[67524185, 67524235], [67528316, 67528406], [67528745, 67528842], [67528967, 67529158], [67535074, 67535209]] [[67524185, 67524235], [67528316, 67528406], [67528745, 67528779]]
ENST00000561229 [[67529055, 67529158], [67546566, 67546992]] None
NM_001271886 [[67493012, 67495236], [67495885, 67495935], [67496381, 67496486], [67500899, 67500996], [67501799, 67501882], [67524151, 67524235], [67528316, 67528406], [67528745, 67528842], [67528967, 67529158], [67546751, 67547074]] [[67495158, 67495236], [67495885, 67495935], [67496381, 67496486], [67500899, 67500996], [67501799, 67501882], [67524151, 67524235], [67528316, 67528406], [67528745, 67528779]]
NM_024666 [[67493012, 67495236], [67495885, 67495935], [67496381, 67496486], [67500899, 67500996], [67501799, 67501882], [67524151, 67524235], [67528316, 67528406], [67528745, 67528842], [67528967, 67529158], [67546896, 67547074]] [[67495158, 67495236], [67495885, 67495935], [67496381, 67496486], [67500899, 67500996], [67501799, 67501882], [67524151, 67524235], [67528316, 67528406], [67528745, 67528842], [67528967, 67529158], [67546896, 67546969]]
NM_001271885 [[67493012, 67495236], [67495885, 67495935], [67496381, 67496486], [67500899, 67500996], [67501799, 67501882], [67524151, 67524235], [67528316, 67528406], [67528745, 67528842], [67528967, 67529158], [67547474, 67547536]] [[67495158, 67495236], [67495885, 67495935], [67496381, 67496486], [67500899, 67500996], [67501799, 67501882], [67524151, 67524235], [67528316, 67528406], [67528745, 67528779]]
Promoter
Chrom Start End Description
chr15 67546963 67547024 CAGE_peak_1_at_AAGAB_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr15 GH15I067259 67259674 67259733 0.79 [{'connected_gene': 'AAGAB', 'score': 550.77}, {'connected_gene': 'MAP2K5', 'score': 10.3}, {'connected_gene': 'IQCH', 'score': 0.77}, {'connected_gene': 'PIR57050', 'score': 0.1}]
chr15 GH15I067373 67372826 67373747 0.91 [{'connected_gene': 'MAP2K5', 'score': 5.0}, {'connected_gene': 'PIR57050', 'score': 0.26}, {'connected_gene': 'IQCH', 'score': 0.13}, {'connected_gene': 'AAGAB', 'score': 0.13}]
chr15 GH15I067129 67129743 67152699 2.33 [{'connected_gene': 'SMAD3', 'score': 565.47}, {'connected_gene': 'PIR53240', 'score': 550.77}, {'connected_gene': 'SKOR1', 'score': 13.53}, {'connected_gene': 'SNORD16', 'score': 11.78}, {'connected_gene': 'DIS3L', 'score': 11.61}, {'connected_gene': 'AAGAB', 'score': 11.12}, {'connected_gene': 'IQCH', 'score': 11.12}, {'connected_gene': 'ENSG00000260773', 'score': 10.2}, {'connected_gene': 'PIR54457', 'score': 0.44}, {'connected_gene': 'ENSG00000259202', 'score': 0.44}]
chr15 GH15I067113 67113557 67129452 2.28 [{'connected_gene': 'SMAD3', 'score': 565.43}, {'connected_gene': 'IQCH', 'score': 10.51}, {'connected_gene': 'AAGAB', 'score': 10.51}, {'connected_gene': 'DIS3L', 'score': 5.1}, {'connected_gene': 'PIR54457', 'score': 0.39}, {'connected_gene': 'GC15P069447', 'score': 0.39}]
chr15 GH15I067056 67056319 67056756 0.46 [{'connected_gene': 'SMAD3', 'score': 10.14}, {'connected_gene': 'IQCH', 'score': 9.89}, {'connected_gene': 'AAGAB', 'score': 9.89}, {'connected_gene': 'LOC102723493', 'score': 0.44}, {'connected_gene': 'HMGN2P47', 'score': 0.22}]
chr15 GH15I067060 67060634 67071672 2.53 [{'connected_gene': 'SMAD3', 'score': 561.89}, {'connected_gene': 'LOC102723493', 'score': 550.77}, {'connected_gene': 'PIR44207', 'score': 550.77}, {'connected_gene': 'ENSG00000260773', 'score': 46.14}, {'connected_gene': 'SKOR1', 'score': 27.57}, {'connected_gene': 'MAP2K5', 'score': 11.98}, {'connected_gene': 'IQCH-AS1', 'score': 11.2}, {'connected_gene': 'PIAS1', 'score': 10.55}, {'connected_gene': 'RPL4', 'score': 10.09}, {'connected_gene': 'AAGAB', 'score': 10.06}, {'connected_gene': 'IQCH', 'score': 10.06}, {'connected_gene': 'DIS3L', 'score': 9.98}]
chr15 GH15I067240 67240343 67242132 0.76 [{'connected_gene': 'SKOR1', 'score': 13.52}, {'connected_gene': 'DIS3L', 'score': 11.6}, {'connected_gene': 'MAP2K5', 'score': 10.51}, {'connected_gene': 'IQCH', 'score': 8.33}, {'connected_gene': 'GC15P069446', 'score': 0.44}, {'connected_gene': 'AAGAB', 'score': 0.39}]
chr15 GH15I067414 67414123 67414332 0.57 [{'connected_gene': 'SKOR1', 'score': 10.82}, {'connected_gene': 'LOC101929076', 'score': 10.82}, {'connected_gene': 'RNU6-1', 'score': 10.82}, {'connected_gene': 'IQCH', 'score': 10.21}, {'connected_gene': 'AAGAB', 'score': 10.21}, {'connected_gene': 'PIR57050', 'score': 0.77}, {'connected_gene': 'IQCH-AS1', 'score': 0.14}]
chr15 GH15I067196 67196160 67201676 1.5 [{'connected_gene': 'IQCH', 'score': 19.19}, {'connected_gene': 'AAGAB', 'score': 17.94}, {'connected_gene': 'MAP2K5', 'score': 10.94}, {'connected_gene': 'SMAD3', 'score': 2.62}, {'connected_gene': 'PIR40233', 'score': 0.44}, {'connected_gene': 'RPS24P16', 'score': 0.29}]
chr15 GH15I067182 67182297 67191639 0.96 [{'connected_gene': 'IQCH', 'score': 21.51}, {'connected_gene': 'AAGAB', 'score': 17.06}, {'connected_gene': 'MAP2K5', 'score': 11.88}, {'connected_gene': 'PIR40233', 'score': 0.44}, {'connected_gene': 'PIR31395', 'score': 0.39}, {'connected_gene': 'SMAD3', 'score': 0.13}]
chr15 GH15I067223 67223917 67226732 0.65 [{'connected_gene': 'IQCH', 'score': 22.38}, {'connected_gene': 'AAGAB', 'score': 17.82}, {'connected_gene': 'MAP2K5', 'score': 10.76}, {'connected_gene': 'RPS24P16', 'score': 0.44}, {'connected_gene': 'PIR40233', 'score': 0.29}]
chr15 GH15I067029 67029506 67031139 1.36 [{'connected_gene': 'IQCH', 'score': 9.81}, {'connected_gene': 'AAGAB', 'score': 9.81}, {'connected_gene': 'SMAD3', 'score': 5.51}, {'connected_gene': 'HMGN2P47', 'score': 0.31}, {'connected_gene': 'LOC102723493', 'score': 0.29}]
chr15 GH15I067027 67027547 67028461 1.22 [{'connected_gene': 'IQCH', 'score': 9.81}, {'connected_gene': 'AAGAB', 'score': 9.81}, {'connected_gene': 'SMAD3', 'score': 4.97}, {'connected_gene': 'HMGN2P47', 'score': 0.31}, {'connected_gene': 'LOC102723493', 'score': 0.28}]
chr15 GH15I067058 67056192 67056249 0.64 [{'connected_gene': 'IQCH', 'score': 9.89}, {'connected_gene': 'AAGAB', 'score': 9.89}, {'connected_gene': 'SMAD3', 'score': 0.44}, {'connected_gene': 'LOC102723493', 'score': 0.44}, {'connected_gene': 'HMGN2P47', 'score': 0.22}]
chr15 GH15I067057 67057926 67059850 1.15 [{'connected_gene': 'IQCH', 'score': 10.06}, {'connected_gene': 'AAGAB', 'score': 10.06}, {'connected_gene': 'SMAD3', 'score': 0.77}, {'connected_gene': 'LOC102723493', 'score': 0.44}, {'connected_gene': 'HMGN2P47', 'score': 0.22}]
chr15 GH15I067153 67153411 67155772 0.43 [{'connected_gene': 'IQCH', 'score': 10.58}, {'connected_gene': 'AAGAB', 'score': 10.58}, {'connected_gene': 'SMAD3', 'score': 8.96}, {'connected_gene': 'ENSG00000259202', 'score': 0.44}, {'connected_gene': 'PIR31395', 'score': 0.37}]
chr15 GH15I067154 67153003 67153291 0.4 [{'connected_gene': 'IQCH', 'score': 10.58}, {'connected_gene': 'AAGAB', 'score': 10.58}, {'connected_gene': 'ENSG00000259202', 'score': 0.44}, {'connected_gene': 'PIR31395', 'score': 0.37}, {'connected_gene': 'SMAD3', 'score': 0.17}]
chr15 GH15I066940 66940523 66941691 0.82 [{'connected_gene': 'IQCH', 'score': 10.2}, {'connected_gene': 'AAGAB', 'score': 10.2}, {'connected_gene': 'RNU6-1', 'score': 9.98}, {'connected_gene': 'LOC101929076', 'score': 9.98}, {'connected_gene': 'SKOR1', 'score': 9.97}, {'connected_gene': 'LINC02206', 'score': 0.37}, {'connected_gene': 'ENSG00000259437', 'score': 0.34}]
chr15 GH15I067017 67017245 67019251 0.57 [{'connected_gene': 'IQCH', 'score': 9.73}, {'connected_gene': 'AAGAB', 'score': 9.73}, {'connected_gene': 'HMGN2P47', 'score': 0.37}, {'connected_gene': 'SMAD3', 'score': 0.25}, {'connected_gene': 'LOC102723493', 'score': 0.25}]
chr15 GH15I067013 67013124 67014874 0.94 [{'connected_gene': 'IQCH', 'score': 10.07}, {'connected_gene': 'AAGAB', 'score': 10.07}, {'connected_gene': 'HMGN2P47', 'score': 0.39}, {'connected_gene': 'SMAD3', 'score': 0.25}, {'connected_gene': 'LOC102723493', 'score': 0.23}]
chr15 GH15I067010 67010789 67011684 0.94 [{'connected_gene': 'IQCH', 'score': 10.07}, {'connected_gene': 'AAGAB', 'score': 10.07}, {'connected_gene': 'HMGN2P47', 'score': 0.39}, {'connected_gene': 'SMAD3', 'score': 0.23}, {'connected_gene': 'LOC102723493', 'score': 0.23}]
chr15 GH15I066985 66985843 66985992 0.4 [{'connected_gene': 'IQCH', 'score': 9.62}, {'connected_gene': 'AAGAB', 'score': 9.62}, {'connected_gene': 'HMGN2P47', 'score': 0.37}, {'connected_gene': 'LINC02206', 'score': 0.31}, {'connected_gene': 'LOC102723493', 'score': 0.18}]
chr15 GH15I066946 66946601 66947200 1.2 [{'connected_gene': 'IQCH', 'score': 9.96}, {'connected_gene': 'AAGAB', 'score': 9.96}, {'connected_gene': 'LINC02206', 'score': 0.44}, {'connected_gene': 'ENSG00000259437', 'score': 0.31}]
chr15 GH15I066949 66949975 66951544 0.38 [{'connected_gene': 'IQCH', 'score': 9.96}, {'connected_gene': 'AAGAB', 'score': 9.96}, {'connected_gene': 'LINC02206', 'score': 0.44}, {'connected_gene': 'ENSG00000259437', 'score': 0.29}]
chr15 GH15I066947 66947617 66949104 1.04 [{'connected_gene': 'IQCH', 'score': 9.96}, {'connected_gene': 'AAGAB', 'score': 9.96}, {'connected_gene': 'LINC02206', 'score': 0.44}, {'connected_gene': 'ENSG00000259437', 'score': 0.31}]
chr15 GH15I066935 66935723 66937405 0.6 [{'connected_gene': 'IQCH', 'score': 10.36}, {'connected_gene': 'AAGAB', 'score': 10.36}, {'connected_gene': 'LINC02206', 'score': 0.37}, {'connected_gene': 'ENSG00000259437', 'score': 0.37}]
chr15 GH15I066926 66926998 66928570 0.74 [{'connected_gene': 'IQCH', 'score': 9.57}, {'connected_gene': 'AAGAB', 'score': 9.57}, {'connected_gene': 'ENSG00000259437', 'score': 0.44}, {'connected_gene': 'LINC02206', 'score': 0.31}]
chr15 GH15I067407 67407574 67408016 0.63 [{'connected_gene': 'IQCH', 'score': 9.66}, {'connected_gene': 'AAGAB', 'score': 9.66}, {'connected_gene': 'PIR57050', 'score': 0.44}, {'connected_gene': 'IQCH-AS1', 'score': 0.14}]
chr15 GH15I067253 67253038 67255600 2.11 [{'connected_gene': 'IQCH', 'score': 558.48}, {'connected_gene': 'AAGAB', 'score': 550.77}, {'connected_gene': 'RPL35AP32', 'score': 14.7}, {'connected_gene': 'SNORD16', 'score': 14.31}, {'connected_gene': 'TIPIN', 'score': 12.65}, {'connected_gene': 'PIAS1', 'score': 10.98}, {'connected_gene': 'MAP2K5', 'score': 10.84}, {'connected_gene': 'ZWILCH', 'score': 10.55}, {'connected_gene': 'RPL4', 'score': 10.49}, {'connected_gene': 'ENSG00000260773', 'score': 10.26}, {'connected_gene': 'SKOR1', 'score': 10.2}, {'connected_gene': 'GC15P069446', 'score': 0.34}]
chr15 GH15I067303 67303863 67303932 0.63 [{'connected_gene': 'IQCH', 'score': 8.84}, {'connected_gene': 'AAGAB', 'score': 0.25}, {'connected_gene': 'PIR57050', 'score': 0.14}]
chr15 GH15I067372 67372093 67372152 0.5 [{'connected_gene': 'IQCH', 'score': 550.13}, {'connected_gene': 'PIR57050', 'score': 0.26}, {'connected_gene': 'AAGAB', 'score': 0.13}]
chr15 GH15I067314 67314482 67314633 0.36 [{'connected_gene': 'IQCH', 'score': 0.22}, {'connected_gene': 'AAGAB', 'score': 0.22}, {'connected_gene': 'PIR57050', 'score': 0.15}]
chr15 GH15I067531 67531183 67532579 0.63 [{'connected_gene': 'IQCH-AS1', 'score': 22.73}, {'connected_gene': 'IQCH', 'score': 10.65}, {'connected_gene': 'AAGAB', 'score': 4.69}, {'connected_gene': 'ENSG00000270964', 'score': 0.39}]
chr15 GH15I067095 67095672 67099914 1.34 [{'connected_gene': 'RPL35AP32', 'score': 13.66}, {'connected_gene': 'ENSG00000260773', 'score': 12.91}, {'connected_gene': 'SNORD16', 'score': 11.74}, {'connected_gene': 'AAGAB', 'score': 10.77}, {'connected_gene': 'IQCH', 'score': 10.77}, {'connected_gene': 'IQCH-AS1', 'score': 10.05}, {'connected_gene': 'SMAD3', 'score': 4.87}, {'connected_gene': 'GC15P069447', 'score': 0.39}, {'connected_gene': 'GC15P068695', 'score': 0.34}]
chr15 GH15I067023 67023327 67027217 1.45 [{'connected_gene': 'RPL35AP32', 'score': 10.29}, {'connected_gene': 'IQCH', 'score': 9.7}, {'connected_gene': 'AAGAB', 'score': 9.7}, {'connected_gene': 'SMAD3', 'score': 5.79}, {'connected_gene': 'HMGN2P47', 'score': 0.34}, {'connected_gene': 'LOC102723493', 'score': 0.28}]
chr15 GH15I067395 67395019 67395236 0.4 [{'connected_gene': 'PIR57050', 'score': 0.34}, {'connected_gene': 'AAGAB', 'score': 0.12}, {'connected_gene': 'IQCH', 'score': 0.11}]
chr15 GH15I067171 67171283 67181731 1.72 [{'connected_gene': 'ENSG00000260773', 'score': 41.16}, {'connected_gene': 'SNORD16', 'score': 20.35}, {'connected_gene': 'IQCH', 'score': 17.34}, {'connected_gene': 'RPL35AP32', 'score': 13.66}, {'connected_gene': 'SMAD3', 'score': 12.75}, {'connected_gene': 'ZWILCH', 'score': 12.2}, {'connected_gene': 'SNAPC5', 'score': 11.95}, {'connected_gene': 'TIPIN', 'score': 10.68}, {'connected_gene': 'AAGAB', 'score': 10.34}, {'connected_gene': 'IQCH-AS1', 'score': 10.05}, {'connected_gene': 'MAP2K5', 'score': 9.7}, {'connected_gene': 'SKOR1', 'score': 5.06}, {'connected_gene': 'PIR31395', 'score': 0.77}, {'connected_gene': 'PIR40233', 'score': 0.37}]
chr15 GH15I067072 67072003 67078976 1.7 [{'connected_gene': 'GC15P068695', 'score': 550.77}, {'connected_gene': 'ENSG00000260773', 'score': 27.08}, {'connected_gene': 'ZWILCH', 'score': 23.85}, {'connected_gene': 'SMAD3', 'score': 12.38}, {'connected_gene': 'TIPIN', 'score': 12.31}, {'connected_gene': 'IQCH-AS1', 'score': 11.46}, {'connected_gene': 'AAGAB', 'score': 9.96}, {'connected_gene': 'IQCH', 'score': 9.96}, {'connected_gene': 'SNORD16', 'score': 9.76}, {'connected_gene': 'GC15P069447', 'score': 0.29}]
chr15 GH15I067192 67192139 67195646 0.91 [{'connected_gene': 'PIR40233', 'score': 550.77}, {'connected_gene': 'IQCH', 'score': 20.18}, {'connected_gene': 'AAGAB', 'score': 17.49}, {'connected_gene': 'TIPIN', 'score': 13.53}, {'connected_gene': 'SKOR1', 'score': 12.64}, {'connected_gene': 'ZWILCH', 'score': 12.56}, {'connected_gene': 'MAP2K5', 'score': 10.81}, {'connected_gene': 'RPS24P16', 'score': 0.28}, {'connected_gene': 'SMAD3', 'score': 0.12}]
chr15 GH15I067079 67079236 67095589 1.82 [{'connected_gene': 'ENSG00000260773', 'score': 14.82}, {'connected_gene': 'IQCH', 'score': 10.77}, {'connected_gene': 'AAGAB', 'score': 10.77}, {'connected_gene': 'SMAD3', 'score': 7.42}, {'connected_gene': 'GC15P068695', 'score': 0.39}, {'connected_gene': 'GC15P069447', 'score': 0.34}]
chr15 GH15I066921 66921181 66921890 0.83 [{'connected_gene': 'ENSG00000259437', 'score': 550.77}, {'connected_gene': 'IQCH', 'score': 9.57}, {'connected_gene': 'AAGAB', 'score': 9.57}, {'connected_gene': 'LINC02206', 'score': 0.29}]
chr15 GH15I066920 66920126 66920331 0.4 [{'connected_gene': 'ENSG00000259437', 'score': 550.77}, {'connected_gene': 'IQCH', 'score': 9.57}, {'connected_gene': 'AAGAB', 'score': 9.57}, {'connected_gene': 'LINC02206', 'score': 0.28}]
chr15 GH15I066918 66918590 66920125 0.31 [{'connected_gene': 'ENSG00000259437', 'score': 550.77}, {'connected_gene': 'IQCH', 'score': 9.77}, {'connected_gene': 'AAGAB', 'score': 9.77}, {'connected_gene': 'GC15M066899', 'score': 0.39}]
chr15 GH15I067374 67373791 67374077 0.4 [{'connected_gene': 'PIR57050', 'score': 0.26}, {'connected_gene': 'IQCH', 'score': 0.13}, {'connected_gene': 'AAGAB', 'score': 0.13}]
chr15 GH15I067396 67396401 67396600 0.31 [{'connected_gene': 'PIR57050', 'score': 0.34}, {'connected_gene': 'IQCH', 'score': 0.11}, {'connected_gene': 'AAGAB', 'score': 0.11}]
chr15 GH15I067203 67203198 67203719 0.2 [{'connected_gene': 'PIR40233', 'score': 0.39}, {'connected_gene': 'RPS24P16', 'score': 0.31}, {'connected_gene': 'AAGAB', 'score': 0.23}]

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