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
ENST00000540900 [[28442538, 28442641], [28443663, 28443881], [28499559, 28499616], [28505088, 28505217], [28506107, 28506315], [28507925, 28508034], [28511632, 28512865]] None
ENST00000584423 [[28443798, 28443881], [28445097, 28445191], [28454876, 28455181]] [[28443861, 28443881], [28445097, 28445191], [28454876, 28455041]]
ENST00000247026 [[28443798, 28443881], [28445097, 28445191], [28499559, 28499616], [28505088, 28505217], [28506107, 28506315], [28507925, 28508034], [28511632, 28513493]] [[28443861, 28443881], [28445097, 28445191], [28499559, 28499616], [28505088, 28505217], [28506107, 28506315], [28507925, 28508034], [28511632, 28512692]]
ENST00000584154 [[28443836, 28443881], [28445097, 28445191], [28495831, 28495943], [28499559, 28499616], [28505088, 28505217], [28506107, 28506253]] [[28443861, 28443881], [28445097, 28445191], [28495831, 28495846]]
ENST00000577289 [[28443836, 28443881], [28490084, 28490180], [28499559, 28499616], [28505088, 28505217], [28506107, 28506315], [28507925, 28507952]] None
ENST00000394826 [[28443837, 28443881], [28483557, 28483680], [28499559, 28499616], [28505088, 28505217], [28506107, 28506315], [28507925, 28508034], [28511632, 28512762]] [[28443861, 28443881], [28483557, 28483680], [28499559, 28499569]]
ENST00000479218 [[28443844, 28443881], [28444319, 28444350], [28445097, 28445191], [28454876, 28455254]] [[28443861, 28443881], [28444319, 28444350], [28445097, 28445172]]
ENST00000475652 [[28443846, 28443881], [28444319, 28444350], [28445097, 28445191], [28499559, 28499616], [28505088, 28505217], [28506107, 28506315], [28507925, 28508034], [28511632, 28512211]] [[28443861, 28443881], [28444319, 28444350], [28445097, 28445172]]
ENST00000584317 [[28443847, 28443881], [28445097, 28445191], [28483557, 28483680], [28490084, 28490180], [28499559, 28499616], [28505088, 28505217], [28506107, 28506138]] [[28443861, 28443881], [28445097, 28445191], [28483557, 28483668]]
ENST00000583301 [[28443856, 28443881], [28445097, 28445191], [28477119, 28477684]] None
ENST00000585881 [[28444009, 28444350], [28499559, 28499616], [28505088, 28505217], [28506107, 28506162]] [[28499607, 28499616], [28505088, 28505217], [28506107, 28506162]]
ENST00000467446 [[28444171, 28444350], [28445097, 28445191], [28495120, 28495232], [28495831, 28495943], [28499559, 28499610]] None
ENST00000580103 [[28444189, 28444350], [28445097, 28445191], [28499559, 28499616], [28505088, 28505217], [28506107, 28506315], [28507925, 28508034], [28511632, 28511648]] [[28499607, 28499616], [28505088, 28505217], [28506107, 28506315], [28507925, 28508034], [28511632, 28511648]]
ENST00000581048 [[28444983, 28445029], [28481421, 28481633], [28499559, 28499616], [28505088, 28505217], [28506107, 28506210]] None
ENST00000588614 [[28445055, 28445191], [28499559, 28499616], [28505088, 28505217], [28506107, 28506282]] [[28499607, 28499616], [28505088, 28505217], [28506107, 28506282]]
ENST00000589608 [[28445097, 28445191], [28483557, 28483680], [28499559, 28499616], [28505088, 28505182]] [[28445097, 28445191], [28483557, 28483668]]
NM_001261467 [[28443824, 28443881], [28499559, 28499616], [28505088, 28505217], [28506107, 28506315], [28507925, 28508034], [28511632, 28513493]] [[28499607, 28499616], [28505088, 28505217], [28506107, 28506315], [28507925, 28508034], [28511632, 28512692]]
NM_032141 [[28443824, 28443881], [28445097, 28445191], [28499559, 28499616], [28505088, 28505217], [28506107, 28506315], [28507925, 28508034], [28511632, 28513493]] [[28443861, 28443881], [28445097, 28445191], [28499559, 28499616], [28505088, 28505217], [28506107, 28506315], [28507925, 28508034], [28511632, 28512692]]
Promoter
Chrom Start End Description
chr17 28443802 28443813 CAGE_peak_2_at_NSRP1_5end
chr17 28443819 28443856 CAGE_peak_1_at_NSRP1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I029731 29731577 29735425 1.13 [{'connected_gene': 'GOSR1', 'score': 54.76}, {'connected_gene': 'CORO6', 'score': 49.27}, {'connected_gene': 'SH3GL1P2', 'score': 35.08}, {'connected_gene': 'SMURF2P1', 'score': 28.27}, {'connected_gene': 'NUFIP2', 'score': 20.21}, {'connected_gene': 'ANKRD13B', 'score': 19.53}, {'connected_gene': 'LRRC37BP1', 'score': 14.83}, {'connected_gene': 'RNU6-920P', 'score': 11.77}, {'connected_gene': 'SUZ12P1', 'score': 10.69}, {'connected_gene': 'NSRP1', 'score': 10.17}, {'connected_gene': 'ENSG00000239129', 'score': 9.87}, {'connected_gene': 'LOC101927093', 'score': 4.51}, {'connected_gene': 'TP53I13', 'score': 4.16}, {'connected_gene': 'RPL21P123', 'score': 0.37}, {'connected_gene': 'ENSG00000263657', 'score': 0.31}, {'connected_gene': 'SSH2', 'score': 0.08}]
chr17 GH17I029743 29743911 29745752 1.4 [{'connected_gene': 'GOSR1', 'score': 103.41}, {'connected_gene': 'LRRC37BP1', 'score': 84.65}, {'connected_gene': 'SH3GL1P2', 'score': 57.87}, {'connected_gene': 'SUZ12P1', 'score': 46.3}, {'connected_gene': 'SMURF2P1', 'score': 41.45}, {'connected_gene': 'CORO6', 'score': 35.46}, {'connected_gene': 'NUFIP2', 'score': 23.59}, {'connected_gene': 'TBC1D29', 'score': 14.6}, {'connected_gene': 'ENSG00000264290', 'score': 14.19}, {'connected_gene': 'LOC101927018', 'score': 13.53}, {'connected_gene': 'PHF12', 'score': 13.06}, {'connected_gene': 'ANKRD13B', 'score': 13.01}, {'connected_gene': 'NSRP1', 'score': 12.57}, {'connected_gene': 'ENSG00000265908', 'score': 11.37}, {'connected_gene': 'RNU6-920P', 'score': 10.89}, {'connected_gene': 'ERAL1', 'score': 9.94}, {'connected_gene': 'TAOK1', 'score': 9.71}, {'connected_gene': 'ENSG00000239129', 'score': 9.12}, {'connected_gene': 'ENSG00000263657', 'score': 0.37}, {'connected_gene': 'RPL21P123', 'score': 0.31}, {'connected_gene': 'SSH2', 'score': 0.09}]
chr17 GH17I030095 30095475 30096452 1.02 [{'connected_gene': 'CORO6', 'score': 36.07}, {'connected_gene': 'GOSR1', 'score': 13.22}, {'connected_gene': 'TEFM', 'score': 12.09}, {'connected_gene': 'NUFIP2', 'score': 11.38}, {'connected_gene': 'ATAD5', 'score': 10.32}, {'connected_gene': 'DPRXP4', 'score': 10.24}, {'connected_gene': 'LOC101927093', 'score': 4.14}, {'connected_gene': 'NSRP1', 'score': 0.37}, {'connected_gene': 'GC17M030077', 'score': 0.34}, {'connected_gene': 'ENSG00000265394', 'score': 0.34}, {'connected_gene': 'EFCAB5', 'score': 0.1}]
chr17 GH17I030176 30176530 30177565 0.2 [{'connected_gene': 'CORO6', 'score': 22.61}, {'connected_gene': 'SLC6A4', 'score': 11.06}, {'connected_gene': 'RNU6-1267P', 'score': 10.43}, {'connected_gene': 'BLMH', 'score': 10.42}, {'connected_gene': 'ENSG00000264125', 'score': 0.31}, {'connected_gene': 'ENSG00000266987', 'score': 0.29}, {'connected_gene': 'NSRP1', 'score': 0.21}]
chr17 GH17I030112 30112595 30113756 0.89 [{'connected_gene': 'CORO6', 'score': 36.06}, {'connected_gene': 'BLMH', 'score': 10.61}, {'connected_gene': 'RNU6-1267P', 'score': 10.61}, {'connected_gene': 'NSRP1', 'score': 0.77}, {'connected_gene': 'ENSG00000265394', 'score': 0.77}, {'connected_gene': 'GC17M030077', 'score': 0.26}]
chr17 GH17I029691 29691801 29693191 1.52 [{'connected_gene': 'CORO6', 'score': 37.99}, {'connected_gene': 'LRRC37BP1', 'score': 11.93}, {'connected_gene': 'SMURF2P1', 'score': 11.72}, {'connected_gene': 'RNU6-920P', 'score': 10.72}, {'connected_gene': 'GOSR1', 'score': 10.11}, {'connected_gene': 'NSRP1', 'score': 3.18}, {'connected_gene': 'SSH2', 'score': 3.02}, {'connected_gene': 'NUFIP2', 'score': 2.61}, {'connected_gene': 'TAOK1', 'score': 2.3}, {'connected_gene': 'RPL21P123', 'score': 0.34}, {'connected_gene': 'ENSG00000265625', 'score': 0.25}, {'connected_gene': 'ABHD15-AS1', 'score': 0.12}]
chr17 GH17I030104 30104143 30105666 1.22 [{'connected_gene': 'CORO6', 'score': 22.49}, {'connected_gene': 'RNU6-1267P', 'score': 11.11}, {'connected_gene': 'BLMH', 'score': 11.11}, {'connected_gene': 'NSRP1', 'score': 0.39}, {'connected_gene': 'ENSG00000265394', 'score': 0.39}, {'connected_gene': 'GC17M030077', 'score': 0.29}, {'connected_gene': 'EFCAB5', 'score': 0.1}]
chr17 GH17I030114 30114403 30114466 0.43 [{'connected_gene': 'NSRP1', 'score': 550.77}, {'connected_gene': 'BLMH', 'score': 10.61}, {'connected_gene': 'RNU6-1267P', 'score': 10.61}, {'connected_gene': 'ENSG00000265394', 'score': 0.77}, {'connected_gene': 'GC17M030077', 'score': 0.26}]
chr17 GH17I030089 30089443 30089808 0.22 [{'connected_gene': 'NSRP1', 'score': 11.4}, {'connected_gene': 'GC17M030077', 'score': 0.37}, {'connected_gene': 'EFCAB5', 'score': 0.1}]
chr17 GH17I030093 30093521 30094000 0.89 [{'connected_gene': 'NSRP1', 'score': 11.42}, {'connected_gene': 'GC17M030077', 'score': 0.34}, {'connected_gene': 'ENSG00000265394', 'score': 0.34}, {'connected_gene': 'EFCAB5', 'score': 0.1}]
chr17 GH17I030091 30091879 30092353 0.38 [{'connected_gene': 'NSRP1', 'score': 11.42}, {'connected_gene': 'GC17M030077', 'score': 0.37}, {'connected_gene': 'ENSG00000265394', 'score': 0.31}, {'connected_gene': 'EFCAB5', 'score': 0.1}]
chr17 GH17I030138 30138851 30138910 0.68 [{'connected_gene': 'NSRP1', 'score': 561.86}, {'connected_gene': 'ENSG00000252112', 'score': 11.38}, {'connected_gene': 'RNU6-1267P', 'score': 10.65}, {'connected_gene': 'BLMH', 'score': 10.65}, {'connected_gene': 'TMIGD1', 'score': 10.17}, {'connected_gene': 'ENSG00000266987', 'score': 0.44}, {'connected_gene': 'ENSG00000265739', 'score': 0.39}]
chr17 GH17I030905 30905400 30907553 2.12 [{'connected_gene': 'TEFM', 'score': 564.84}, {'connected_gene': 'GC17P030905', 'score': 550.77}, {'connected_gene': 'ADAP2', 'score': 550.77}, {'connected_gene': 'GC17P030907', 'score': 550.77}, {'connected_gene': 'UTP6', 'score': 37.35}, {'connected_gene': 'SUZ12P1', 'score': 32.17}, {'connected_gene': 'ATAD5', 'score': 24.79}, {'connected_gene': 'GOSR1', 'score': 23.68}, {'connected_gene': 'NF1', 'score': 21.63}, {'connected_gene': 'ENSG00000264456', 'score': 20.31}, {'connected_gene': 'NSRP1', 'score': 19.87}, {'connected_gene': 'ENSG00000266490', 'score': 14.39}, {'connected_gene': 'RNF135', 'score': 13.01}, {'connected_gene': 'DPRXP4', 'score': 12.68}, {'connected_gene': 'SH3GL1P2', 'score': 11.79}, {'connected_gene': 'LRRC37BP1', 'score': 10.75}, {'connected_gene': 'CRLF3', 'score': 10.06}]
chr17 GH17I030263 30263470 30265152 0.72 [{'connected_gene': 'BLMH', 'score': 20.7}, {'connected_gene': 'SLC6A4', 'score': 11.66}, {'connected_gene': 'RNU6-1267P', 'score': 11.6}, {'connected_gene': 'NSRP1', 'score': 11.09}, {'connected_gene': 'CPD', 'score': 10.38}, {'connected_gene': 'TBC1D29', 'score': 5.3}, {'connected_gene': 'LRRC37BP1', 'score': 4.3}, {'connected_gene': 'CORO6', 'score': 3.96}, {'connected_gene': 'GC17M030249', 'score': 0.39}, {'connected_gene': 'GC17P030227', 'score': 0.28}]
chr17 GH17I030270 30270887 30272763 0.38 [{'connected_gene': 'BLMH', 'score': 19.89}, {'connected_gene': 'ENSG00000252112', 'score': 12.36}, {'connected_gene': 'TMIGD1', 'score': 11.26}, {'connected_gene': 'SLC6A4', 'score': 11.04}, {'connected_gene': 'NSRP1', 'score': 11.02}, {'connected_gene': 'LRRC37BP1', 'score': 4.3}, {'connected_gene': 'RNU6-1267P', 'score': 0.37}, {'connected_gene': 'GC17M030249', 'score': 0.34}, {'connected_gene': 'GC17P030227', 'score': 0.26}]
chr17 GH17I029290 29290880 29295651 2.66 [{'connected_gene': 'NUFIP2', 'score': 575.54}, {'connected_gene': 'ENSG00000264577', 'score': 28.36}, {'connected_gene': 'SUPT6H', 'score': 24.47}, {'connected_gene': 'TMEM199', 'score': 23.25}, {'connected_gene': 'LOC101927018', 'score': 22.46}, {'connected_gene': 'PHF12', 'score': 19.81}, {'connected_gene': 'RPL23A', 'score': 19.41}, {'connected_gene': 'ENSG00000264044', 'score': 18.16}, {'connected_gene': 'RAB34', 'score': 17.23}, {'connected_gene': 'MYO18A', 'score': 14.14}, {'connected_gene': 'SDF2', 'score': 14.14}, {'connected_gene': 'NEK8', 'score': 12.21}, {'connected_gene': 'SARM1', 'score': 11.69}, {'connected_gene': 'ANKRD13B', 'score': 11.5}, {'connected_gene': 'ENSG00000265474', 'score': 11.21}, {'connected_gene': 'ENSG00000265908', 'score': 10.6}, {'connected_gene': 'NSRP1', 'score': 10.45}, {'connected_gene': 'TAOK1', 'score': 10.0}, {'connected_gene': 'GC17M029118', 'score': 0.39}, {'connected_gene': 'CRYBA1', 'score': 0.25}]
chr17 GH17I030818 30818601 30826964 2.09 [{'connected_gene': 'CRLF3', 'score': 550.77}, {'connected_gene': 'SUZ12P1', 'score': 33.78}, {'connected_gene': 'GOSR1', 'score': 20.68}, {'connected_gene': 'TEFM', 'score': 15.03}, {'connected_gene': 'ATAD5', 'score': 12.07}, {'connected_gene': 'NSRP1', 'score': 10.46}, {'connected_gene': 'NF1', 'score': 10.45}, {'connected_gene': 'LOC101927093', 'score': 7.81}, {'connected_gene': 'LRRC37BP1', 'score': 7.27}, {'connected_gene': 'ENSG00000276250', 'score': 0.37}]
chr17 GH17I030253 30253120 30253983 0.65 [{'connected_gene': 'RNU6-1267P', 'score': 11.29}, {'connected_gene': 'BLMH', 'score': 11.27}, {'connected_gene': 'NSRP1', 'score': 10.93}, {'connected_gene': 'GC17M030249', 'score': 0.77}, {'connected_gene': 'GC17P030227', 'score': 0.31}]
chr17 GH17I030363 30363401 30364472 1.3 [{'connected_gene': 'GC17P030363', 'score': 550.77}, {'connected_gene': 'GOSR1', 'score': 12.72}, {'connected_gene': 'TEFM', 'score': 10.84}, {'connected_gene': 'ATAD5', 'score': 10.78}, {'connected_gene': 'CPD', 'score': 8.33}, {'connected_gene': 'BLMH', 'score': 5.74}, {'connected_gene': 'LOC101927093', 'score': 3.72}, {'connected_gene': 'NSRP1', 'score': 2.58}, {'connected_gene': 'SSH2', 'score': 1.69}]
chr17 GH17I030125 30125383 30125532 0.6 [{'connected_gene': 'ENSG00000265739', 'score': 550.77}, {'connected_gene': 'ENSG00000252112', 'score': 11.72}, {'connected_gene': 'SLC6A4', 'score': 11.53}, {'connected_gene': 'TMIGD1', 'score': 11.13}, {'connected_gene': 'BLMH', 'score': 11.1}, {'connected_gene': 'RNU6-1267P', 'score': 11.09}, {'connected_gene': 'PIR49703', 'score': 0.44}, {'connected_gene': 'NSRP1', 'score': 0.44}]
chr17 GH17I030244 30244829 30245368 0.64 [{'connected_gene': 'ENSG00000252112', 'score': 550.77}, {'connected_gene': 'BLMH', 'score': 9.66}, {'connected_gene': 'LRRC37BP1', 'score': 4.31}, {'connected_gene': 'NSRP1', 'score': 2.61}, {'connected_gene': 'SSH2', 'score': 1.66}, {'connected_gene': 'CPD', 'score': 1.44}, {'connected_gene': 'GOSR1', 'score': 1.17}, {'connected_gene': 'LOC105371720', 'score': 0.44}, {'connected_gene': 'GC17P030227', 'score': 0.37}]
chr17 GH17I030343 30343210 30347173 1.72 [{'connected_gene': 'GC17M030345', 'score': 550.77}, {'connected_gene': 'ENSG00000207132', 'score': 550.77}, {'connected_gene': 'GC17P030343', 'score': 550.77}, {'connected_gene': 'BLMH', 'score': 19.12}, {'connected_gene': 'RNU6-1267P', 'score': 11.03}, {'connected_gene': 'TBC1D29', 'score': 6.26}, {'connected_gene': 'CPD', 'score': 5.85}, {'connected_gene': 'EFCAB5', 'score': 4.82}, {'connected_gene': 'NSRP1', 'score': 1.92}, {'connected_gene': 'GC17P030362', 'score': 0.37}]
chr17 GH17I030389 30389739 30390283 0.55 [{'connected_gene': 'GC17P030389', 'score': 550.77}, {'connected_gene': 'TMIGD1', 'score': 11.05}, {'connected_gene': 'NSRP1', 'score': 4.52}, {'connected_gene': 'CPD', 'score': 4.35}, {'connected_gene': 'SSH2', 'score': 2.19}, {'connected_gene': 'GOSR1', 'score': 2.0}, {'connected_gene': 'GC17P030463', 'score': 0.19}]
chr17 GH17I030359 30359801 30360850 0.59 [{'connected_gene': 'GC17P030361', 'score': 550.77}, {'connected_gene': 'RNU6-990P', 'score': 550.77}, {'connected_gene': 'GC17P030362', 'score': 550.77}, {'connected_gene': 'CPD', 'score': 6.76}, {'connected_gene': 'BLMH', 'score': 6.76}, {'connected_gene': 'GOSR1', 'score': 5.01}, {'connected_gene': 'LRRC37BP1', 'score': 4.19}, {'connected_gene': 'NSRP1', 'score': 1.53}, {'connected_gene': 'GC17M030345', 'score': 0.37}, {'connected_gene': 'ENSG00000207132', 'score': 0.37}]
chr17 GH17I029389 29389600 29392201 2.07 [{'connected_gene': 'ENSG00000264808', 'score': 550.77}, {'connected_gene': 'MIR4523', 'score': 550.77}, {'connected_gene': 'TAOK1', 'score': 550.77}, {'connected_gene': 'RAB34', 'score': 14.61}, {'connected_gene': 'NSRP1', 'score': 10.45}, {'connected_gene': 'RPL23A', 'score': 10.04}, {'connected_gene': 'TP53I13', 'score': 5.95}, {'connected_gene': 'GC17M029394', 'score': 0.39}, {'connected_gene': 'ENSG00000266111', 'score': 0.28}]
chr17 GH17I030116 30116164 30118721 2.07 [{'connected_gene': 'PIR49703', 'score': 550.77}, {'connected_gene': 'MIR3184', 'score': 550.77}, {'connected_gene': 'NSRP1', 'score': 550.77}, {'connected_gene': 'ENSG00000265394', 'score': 550.77}, {'connected_gene': 'MIR423', 'score': 550.77}, {'connected_gene': 'GC17P030118', 'score': 550.77}, {'connected_gene': 'ENSG00000266919', 'score': 550.77}, {'connected_gene': 'NUFIP2', 'score': 39.54}, {'connected_gene': 'CORO6', 'score': 35.47}, {'connected_gene': 'ENSG00000264456', 'score': 23.42}, {'connected_gene': 'ATAD5', 'score': 23.19}, {'connected_gene': 'RNF135', 'score': 22.36}, {'connected_gene': 'SH3GL1P2', 'score': 22.34}, {'connected_gene': 'GOSR1', 'score': 20.69}, {'connected_gene': 'SLC6A4', 'score': 15.42}, {'connected_gene': 'DPRXP4', 'score': 12.37}, {'connected_gene': 'TEFM', 'score': 12.29}, {'connected_gene': 'ENSG00000252112', 'score': 11.72}, {'connected_gene': 'TMIGD1', 'score': 11.12}, {'connected_gene': 'RNU6-1267P', 'score': 11.09}, {'connected_gene': 'BLMH', 'score': 11.09}, {'connected_gene': 'ENSG00000264290', 'score': 10.11}]

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