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
ENST00000307961 [[66790354, 66791990], [66792393, 66792514], [66792630, 66792714], [66793286, 66793443], [66793712, 66793842], [66794125, 66794250], [66794949, 66795088], [66795395, 66795502], [66795695, 66795867], [66797125, 66797221]] [[66791744, 66791990], [66792393, 66792514], [66792630, 66792714], [66793286, 66793443], [66793712, 66793842], [66794125, 66794250], [66794949, 66795088], [66795395, 66795502], [66795695, 66795867], [66797125, 66797128]]
ENST00000567229 [[66791657, 66791990], [66792393, 66792514], [66792630, 66792714], [66793286, 66793842], [66794125, 66794250], [66794949, 66795502], [66795695, 66795867], [66797125, 66797184]] None
ENST00000565723 [[66791660, 66791990], [66792078, 66792156]] None
ENST00000568588 [[66791660, 66791990], [66792393, 66792514], [66792630, 66792714], [66793286, 66793443], [66793712, 66793842], [66794125, 66794250], [66794949, 66795088], [66795395, 66795502], [66795695, 66795867], [66797665, 66798086], [66816792, 66816870]] [[66791744, 66791990], [66792393, 66792514], [66792630, 66792714], [66793286, 66793443], [66793712, 66793842], [66794125, 66794250], [66794949, 66795088]]
ENST00000561775 [[66791683, 66791990], [66792393, 66792514], [66792630, 66792714], [66793286, 66793443], [66793712, 66793842], [66794125, 66794250], [66794949, 66795209], [66795695, 66795867], [66797125, 66797165]] None
ENST00000569696 [[66791912, 66791990], [66792393, 66792486], [66795028, 66795088], [66795395, 66795502], [66795695, 66795867], [66797125, 66797184]] [[66791912, 66791990], [66792393, 66792486], [66795028, 66795088], [66795395, 66795502], [66795695, 66795867], [66797125, 66797128]]
ENST00000564744 [[66792393, 66792514], [66792630, 66793180]] None
ENST00000564647 [[66792395, 66792514], [66792630, 66792714], [66793286, 66793443], [66793712, 66793842], [66794125, 66794745]] None
ENST00000563473 [[66792468, 66792514], [66792630, 66792714], [66793286, 66793443], [66793531, 66793719]] None
ENST00000566039 [[66793345, 66793842], [66794125, 66794250], [66794949, 66795088], [66795395, 66795502], [66795695, 66795867], [66797125, 66797184]] None
ENST00000564439 [[66793736, 66793842], [66794949, 66795088], [66795395, 66795502], [66795695, 66795867], [66797125, 66797183]] None
ENST00000566622 [[66793897, 66794250], [66794949, 66795088], [66795395, 66795502], [66795695, 66795867], [66797125, 66797171]] None
ENST00000569438 [[66794122, 66794211], [66794949, 66795088], [66795395, 66795502], [66795695, 66795867], [66797125, 66797183]] [[66794122, 66794211], [66794949, 66795088], [66795395, 66795502], [66795695, 66795867], [66797125, 66797128]]
ENST00000566624 [[66794607, 66795088], [66795395, 66795502], [66795695, 66795867], [66797125, 66797184]] None
ENST00000561554 [[66795039, 66795088], [66795395, 66795867], [66797125, 66797184]] None
ENST00000566491 [[66795333, 66795867], [66797125, 66797184]] None
ENST00000564517 [[66797580, 66798086], [66815705, 66815749]] None
NM_000968 [[66791652, 66791990], [66792393, 66792514], [66792630, 66792714], [66793286, 66793443], [66793712, 66793842], [66794125, 66794250], [66794949, 66795088], [66795395, 66795502], [66795695, 66795867], [66797125, 66797193]] [[66791744, 66791990], [66792393, 66792514], [66792630, 66792714], [66793286, 66793443], [66793712, 66793842], [66794125, 66794250], [66794949, 66795088], [66795395, 66795502], [66795695, 66795867], [66797125, 66797128]]
Promoter
Chrom Start End Description
chr15 66791944 66791981 CAGE_peak_2_at_RPL4_5end
chr15 66797172 66797204 CAGE_peak_1_at_RPL4_5end
chr15 66816853 66816864 CAGE_peak_3_at_RPL4_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr15 GH15I065609 65609515 65613309 2.16 [{'connected_gene': 'INTS14', 'score': 690.73}, {'connected_gene': 'SLC24A1', 'score': 593.53}, {'connected_gene': 'PARP16', 'score': 117.65}, {'connected_gene': 'ENSG00000260773', 'score': 116.44}, {'connected_gene': 'SNORD16', 'score': 81.55}, {'connected_gene': 'RPL35AP32', 'score': 67.26}, {'connected_gene': 'PDCD7', 'score': 62.19}, {'connected_gene': 'ENSG00000264937', 'score': 50.47}, {'connected_gene': 'ENSG00000259635', 'score': 48.36}, {'connected_gene': 'TIPIN', 'score': 32.52}, {'connected_gene': 'ZWILCH', 'score': 30.56}, {'connected_gene': 'DENND4A', 'score': 26.28}, {'connected_gene': 'DIS3L', 'score': 24.66}, {'connected_gene': 'RPL4', 'score': 18.87}, {'connected_gene': 'ENSG00000265967', 'score': 18.63}, {'connected_gene': 'SNAPC5', 'score': 11.02}, {'connected_gene': 'HACD3', 'score': 10.51}, {'connected_gene': 'LOC646358', 'score': 10.48}, {'connected_gene': 'MTFMT', 'score': 10.26}, {'connected_gene': 'RNU6-19P', 'score': 9.71}, {'connected_gene': 'GC15M065604', 'score': 0.44}]
chr15 GH15I066459 66459312 66463408 1.02 [{'connected_gene': 'INTS14', 'score': 78.58}, {'connected_gene': 'ENSG00000260773', 'score': 66.85}, {'connected_gene': 'TIPIN', 'score': 58.09}, {'connected_gene': 'SNORD16', 'score': 39.67}, {'connected_gene': 'RPL35AP32', 'score': 26.78}, {'connected_gene': 'SNAPC5', 'score': 26.63}, {'connected_gene': 'SLC24A1', 'score': 26.05}, {'connected_gene': 'ZWILCH', 'score': 23.92}, {'connected_gene': 'DENND4A', 'score': 19.16}, {'connected_gene': 'DIS3L', 'score': 11.55}, {'connected_gene': 'LOC646358', 'score': 11.49}, {'connected_gene': 'HACD3', 'score': 10.36}, {'connected_gene': 'RPL4', 'score': 10.27}, {'connected_gene': 'LOC105370868', 'score': 5.75}, {'connected_gene': 'GC15M066489', 'score': 0.31}, {'connected_gene': 'MAP2K1', 'score': 0.19}]
chr15 GH15I066734 66734862 66735955 1 [{'connected_gene': 'RPL4', 'score': 10.08}, {'connected_gene': 'ZWILCH', 'score': 10.08}, {'connected_gene': 'SNORD16', 'score': 10.08}, {'connected_gene': 'SNORD18A', 'score': 10.08}, {'connected_gene': 'ENSG00000274995', 'score': 0.44}, {'connected_gene': 'PIR60751', 'score': 0.31}, {'connected_gene': 'SMAD6', 'score': 0.29}]
chr15 GH15I066735 66735983 66736132 0.74 [{'connected_gene': 'RPL4', 'score': 10.08}, {'connected_gene': 'ZWILCH', 'score': 10.08}, {'connected_gene': 'SNORD16', 'score': 10.08}, {'connected_gene': 'SNORD18A', 'score': 10.08}, {'connected_gene': 'ENSG00000274995', 'score': 0.77}, {'connected_gene': 'PIR60751', 'score': 0.31}, {'connected_gene': 'SMAD6', 'score': 0.29}]
chr15 GH15I066768 66768846 66775092 1.42 [{'connected_gene': 'RPL4', 'score': 9.88}, {'connected_gene': 'ZWILCH', 'score': 9.88}, {'connected_gene': 'SNORD16', 'score': 9.88}, {'connected_gene': 'SNORD18A', 'score': 9.88}, {'connected_gene': 'GC15M066763', 'score': 0.77}, {'connected_gene': 'ENSG00000274995', 'score': 0.29}, {'connected_gene': 'SMAD6', 'score': 0.2}]
chr15 GH15I066733 66733800 66734600 0.94 [{'connected_gene': 'RPL4', 'score': 10.08}, {'connected_gene': 'ZWILCH', 'score': 10.08}, {'connected_gene': 'SNORD16', 'score': 10.08}, {'connected_gene': 'SNORD18A', 'score': 10.08}, {'connected_gene': 'ENSG00000274995', 'score': 0.44}, {'connected_gene': 'PIR60751', 'score': 0.31}, {'connected_gene': 'SMAD6', 'score': 0.29}]
chr15 GH15I066573 66573225 66575177 0.46 [{'connected_gene': 'RPL4', 'score': 10.17}, {'connected_gene': 'ZWILCH', 'score': 10.12}, {'connected_gene': 'SNORD16', 'score': 10.11}, {'connected_gene': 'SNORD18A', 'score': 10.11}, {'connected_gene': 'SNAPC5', 'score': 8.43}, {'connected_gene': 'TIPIN', 'score': 4.89}, {'connected_gene': 'LCTL', 'score': 0.44}, {'connected_gene': 'LINC01169', 'score': 0.44}]
chr15 GH15I066515 66515534 66516404 0.43 [{'connected_gene': 'RPL4', 'score': 0.44}, {'connected_gene': 'ZWILCH', 'score': 0.39}]
chr15 GH15I066502 66502091 66506401 2.31 [{'connected_gene': 'SNORD16', 'score': 598.2}, {'connected_gene': 'ZWILCH', 'score': 561.75}, {'connected_gene': 'RPL4', 'score': 560.4}, {'connected_gene': 'SNORD18A', 'score': 550.77}, {'connected_gene': 'PIR57266', 'score': 550.77}, {'connected_gene': 'GC15M066535', 'score': 550.77}, {'connected_gene': 'GC15M066537', 'score': 550.77}, {'connected_gene': 'INTS14', 'score': 79.65}, {'connected_gene': 'ENSG00000260773', 'score': 58.77}, {'connected_gene': 'RPL35AP32', 'score': 48.17}, {'connected_gene': 'TIPIN', 'score': 38.93}, {'connected_gene': 'SNAPC5', 'score': 31.57}, {'connected_gene': 'DENND4A', 'score': 19.17}, {'connected_gene': 'DIS3L', 'score': 17.2}, {'connected_gene': 'HACD3', 'score': 10.36}, {'connected_gene': 'LOC105370868', 'score': 7.31}, {'connected_gene': 'SNORD18B', 'score': 0.77}, {'connected_gene': 'GC15M066534', 'score': 0.77}]
chr15 GH15I066507 66507401 66507600 0.2 [{'connected_gene': 'ZWILCH', 'score': 0.77}, {'connected_gene': 'RPL4', 'score': 0.37}]
chr15 GH15I066483 66483021 66483523 0.67 [{'connected_gene': 'ZWILCH', 'score': 11.44}, {'connected_gene': 'SNORD18A', 'score': 11.44}, {'connected_gene': 'RPL4', 'score': 11.36}, {'connected_gene': 'MAP2K1', 'score': 10.84}, {'connected_gene': 'DIS3L', 'score': 9.55}, {'connected_gene': 'GC15M066489', 'score': 0.44}, {'connected_gene': 'RPL35AP32', 'score': 0.28}]
chr15 GH15I066603 66603683 66603872 0.68 [{'connected_gene': 'ZWILCH', 'score': 16.5}, {'connected_gene': 'SMAD6', 'score': 12.53}, {'connected_gene': 'RPL4', 'score': 10.77}, {'connected_gene': 'SNORD16', 'score': 10.74}, {'connected_gene': 'SNORD18A', 'score': 10.74}, {'connected_gene': 'LINC01169', 'score': 0.34}, {'connected_gene': 'GC15P069498', 'score': 0.17}]
chr15 GH15I066508 66508683 66508832 0.59 [{'connected_gene': 'TIPIN', 'score': 38.93}, {'connected_gene': 'ZWILCH', 'score': 0.77}, {'connected_gene': 'RPL4', 'score': 0.37}]
chr15 GH15I066400 66400201 66407121 1.2 [{'connected_gene': 'TIPIN', 'score': 42.4}, {'connected_gene': 'DIS3L', 'score': 18.86}, {'connected_gene': 'SNAPC5', 'score': 18.68}, {'connected_gene': 'RPL4', 'score': 15.75}, {'connected_gene': 'SNORD18B', 'score': 10.48}, {'connected_gene': 'SNORD16', 'score': 10.48}, {'connected_gene': 'SNORD18A', 'score': 10.48}, {'connected_gene': 'SNORD18C', 'score': 10.48}, {'connected_gene': 'ZWILCH', 'score': 10.47}, {'connected_gene': 'GC15M066416', 'score': 0.39}, {'connected_gene': 'MAP2K1', 'score': 0.37}]
chr15 GH15I066410 66410580 66412200 0.83 [{'connected_gene': 'TIPIN', 'score': 40.89}, {'connected_gene': 'SNAPC5', 'score': 35.52}, {'connected_gene': 'MAP2K1', 'score': 12.54}, {'connected_gene': 'SNORD18C', 'score': 10.9}, {'connected_gene': 'SNORD18B', 'score': 10.89}, {'connected_gene': 'SNORD16', 'score': 10.89}, {'connected_gene': 'SNORD18A', 'score': 10.89}, {'connected_gene': 'ZWILCH', 'score': 10.89}, {'connected_gene': 'RPL4', 'score': 10.46}, {'connected_gene': 'DIS3L', 'score': 9.88}, {'connected_gene': 'GC15M066416', 'score': 0.77}]
chr15 GH15I066416 66416791 66418677 0.6 [{'connected_gene': 'TIPIN', 'score': 40.86}, {'connected_gene': 'SNAPC5', 'score': 35.4}, {'connected_gene': 'DIS3L', 'score': 18.22}, {'connected_gene': 'MAP2K1', 'score': 11.89}, {'connected_gene': 'SNORD16', 'score': 10.35}, {'connected_gene': 'SNORD18A', 'score': 10.35}, {'connected_gene': 'ZWILCH', 'score': 10.35}, {'connected_gene': 'RPL4', 'score': 10.03}, {'connected_gene': 'ENSG00000261351', 'score': 6.6}, {'connected_gene': 'ATP5MFP6', 'score': 0.77}, {'connected_gene': 'GC15M066420', 'score': 0.44}]
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 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 GH15I066480 66480354 66482039 0.78 [{'connected_gene': 'DIS3L', 'score': 18.37}, {'connected_gene': 'SNORD16', 'score': 11.44}, {'connected_gene': 'SNORD18A', 'score': 11.44}, {'connected_gene': 'ZWILCH', 'score': 11.44}, {'connected_gene': 'SNORD18B', 'score': 11.38}, {'connected_gene': 'SNORD18C', 'score': 11.38}, {'connected_gene': 'RPL4', 'score': 11.36}, {'connected_gene': 'MAP2K1', 'score': 10.84}, {'connected_gene': 'TIPIN', 'score': 9.36}, {'connected_gene': 'ENSG00000261351', 'score': 7.31}, {'connected_gene': 'LOC105370868', 'score': 6.66}, {'connected_gene': 'GC15M066489', 'score': 0.44}, {'connected_gene': 'RPL35AP32', 'score': 0.29}]
chr15 GH15I066408 66408401 66409400 1.11 [{'connected_gene': 'SNAPC5', 'score': 10.76}, {'connected_gene': 'SNORD18B', 'score': 10.43}, {'connected_gene': 'SNORD16', 'score': 10.43}, {'connected_gene': 'SNORD18A', 'score': 10.43}, {'connected_gene': 'SNORD18C', 'score': 10.43}, {'connected_gene': 'ZWILCH', 'score': 10.42}, {'connected_gene': 'RPL4', 'score': 10.23}, {'connected_gene': 'DIS3L', 'score': 9.34}, {'connected_gene': 'MAP2K1', 'score': 7.11}, {'connected_gene': 'LOC105370868', 'score': 5.67}, {'connected_gene': 'GC15M066416', 'score': 0.44}]
chr15 GH15I066495 66495263 66499153 2.12 [{'connected_gene': 'SNAPC5', 'score': 573.91}, {'connected_gene': 'MIR4512', 'score': 550.77}, {'connected_gene': 'TIPIN', 'score': 49.49}, {'connected_gene': 'ENSG00000260773', 'score': 45.55}, {'connected_gene': 'RPL4', 'score': 19.28}, {'connected_gene': 'SLC24A1', 'score': 14.02}, {'connected_gene': 'INTS14', 'score': 12.53}, {'connected_gene': 'ZWILCH', 'score': 10.96}, {'connected_gene': 'HACD3', 'score': 10.36}, {'connected_gene': 'SNORD16', 'score': 10.34}, {'connected_gene': 'SMAD3', 'score': 10.2}, {'connected_gene': 'DENND4A', 'score': 9.93}, {'connected_gene': 'DIS3L', 'score': 8.91}, {'connected_gene': 'LOC105370868', 'score': 6.66}]
chr15 GH15I066577 66577923 66578801 0.98 [{'connected_gene': 'ENSG00000260773', 'score': 14.86}, {'connected_gene': 'INTS14', 'score': 10.69}, {'connected_gene': 'RPL4', 'score': 10.34}, {'connected_gene': 'ZWILCH', 'score': 10.3}, {'connected_gene': 'SNORD16', 'score': 10.29}, {'connected_gene': 'SNORD18A', 'score': 10.29}, {'connected_gene': 'SNAPC5', 'score': 7.63}, {'connected_gene': 'MAP2K1', 'score': 7.56}, {'connected_gene': 'TIPIN', 'score': 5.45}, {'connected_gene': 'DIS3L', 'score': 4.59}, {'connected_gene': 'LINC01169', 'score': 0.77}, {'connected_gene': 'LCTL', 'score': 0.39}]
chr15 GH15I065638 65638593 65639200 1.06 [{'connected_gene': 'GC15P069495', 'score': 550.77}, {'connected_gene': 'INTS14', 'score': 22.84}, {'connected_gene': 'PARP16', 'score': 20.81}, {'connected_gene': 'RPL35AP32', 'score': 14.7}, {'connected_gene': 'SNORD16', 'score': 14.31}, {'connected_gene': 'DENND4A', 'score': 11.17}, {'connected_gene': 'SLC24A1', 'score': 10.77}, {'connected_gene': 'RPL4', 'score': 10.49}, {'connected_gene': 'SNORD13E', 'score': 10.36}, {'connected_gene': 'ENSG00000260773', 'score': 10.26}, {'connected_gene': 'DIS3L', 'score': 9.8}, {'connected_gene': 'ENSG00000275638', 'score': 0.37}]
chr15 GH15I066415 66415209 66415398 0.5 [{'connected_gene': 'GC15M066416', 'score': 550.77}, {'connected_gene': 'ATP5MFP6', 'score': 550.77}, {'connected_gene': 'MAP2K1', 'score': 12.45}, {'connected_gene': 'SNAPC5', 'score': 10.97}, {'connected_gene': 'SNORD16', 'score': 10.35}, {'connected_gene': 'SNORD18A', 'score': 10.35}, {'connected_gene': 'ZWILCH', 'score': 10.35}, {'connected_gene': 'RPL4', 'score': 9.61}, {'connected_gene': 'GC15M066420', 'score': 0.44}]
chr15 GH15I066500 66500983 66501828 0.31 [{'connected_gene': 'ENSG00000280554', 'score': 550.77}, {'connected_gene': 'SNORD18B', 'score': 550.77}, {'connected_gene': 'SNORD16', 'score': 550.77}, {'connected_gene': 'GC15M066499', 'score': 550.77}, {'connected_gene': 'GC15M066533', 'score': 550.77}, {'connected_gene': 'GC15M066537', 'score': 550.77}, {'connected_gene': 'SNORD18A', 'score': 550.77}, {'connected_gene': 'GC15M066534', 'score': 550.77}, {'connected_gene': 'PIR57266', 'score': 550.77}, {'connected_gene': 'SNORD18C', 'score': 550.77}, {'connected_gene': 'GC15M066535', 'score': 550.77}, {'connected_gene': 'TIPIN', 'score': 38.94}, {'connected_gene': 'DIS3L', 'score': 7.24}, {'connected_gene': 'RPL4', 'score': 0.34}]
chr15 GH15I066728 66728730 66731492 1.04 [{'connected_gene': 'ENSG00000260773', 'score': 21.77}, {'connected_gene': 'SMAD6', 'score': 12.3}, {'connected_gene': 'LOC646358', 'score': 11.49}, {'connected_gene': 'RPL4', 'score': 10.08}, {'connected_gene': 'SNORD16', 'score': 10.08}, {'connected_gene': 'SNORD18A', 'score': 10.08}, {'connected_gene': 'ZWILCH', 'score': 10.08}, {'connected_gene': 'DENND4A', 'score': 9.92}, {'connected_gene': 'ENSG00000274995', 'score': 0.39}, {'connected_gene': 'PIR60751', 'score': 0.34}]
chr15 GH15I066930 66930478 66933763 1.42 [{'connected_gene': 'ENSG00000260773', 'score': 30.55}, {'connected_gene': 'RPL35AP32', 'score': 14.72}, {'connected_gene': 'ZWILCH', 'score': 14.71}, {'connected_gene': 'SNORD16', 'score': 14.32}, {'connected_gene': 'TIPIN', 'score': 12.32}, {'connected_gene': 'DIS3L', 'score': 10.85}, {'connected_gene': 'RPL4', 'score': 10.51}, {'connected_gene': 'ENSG00000259437', 'score': 0.39}, {'connected_gene': 'LINC02206', 'score': 0.34}]

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