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
ENST00000371253 [[46965439, 46968032], [46969237, 46969304], [46973553, 46973613], [46974989, 46975031], [46976680, 46978054], [46979742, 46979931], [46982416, 46982580], [46984352, 46984504], [46988466, 46988525], [46989693, 46989794], [46991779, 46991953], [46993589, 46993739], [46995439, 46995497], [46996728, 46996840], [47009926, 47010099]] [[46967958, 46968032], [46969237, 46969304], [46973553, 46973613], [46974989, 46975031], [46976680, 46978054], [46979742, 46979931], [46982416, 46982580], [46984352, 46984504], [46988466, 46988525], [46989693, 46989794], [46991779, 46991953], [46993589, 46993739], [46995439, 46995497], [46996728, 46996797]]
ENST00000477858 [[46967769, 46968032], [46969237, 46969709]] None
ENST00000419892 [[46967827, 46968032], [46969237, 46969304], [46973553, 46973613], [46974989, 46975031], [46976680, 46978054], [46979742, 46982580], [46984352, 46988233], [46988466, 46988525], [46989693, 46989794], [46991779, 46991953], [46993589, 46993739], [46996728, 46996840], [47009926, 47009993]] None
ENST00000449332 [[46967847, 46968032], [46969237, 46969304], [46973553, 46973613], [46974989, 46975031], [46976680, 46978054], [46979742, 46979931], [46982416, 46982580], [46984352, 46984504], [46988466, 46988525], [46989693, 46989794], [46991779, 46991953], [46993589, 46993739], [46996728, 46996826]] None
ENST00000283297 [[46967958, 46968032], [46969237, 46969304], [46973553, 46973613], [46974989, 46975031], [46976680, 46978054], [46979742, 46979931], [46982416, 46982580], [46984352, 46984504], [46986215, 46986235]] [[46967958, 46968032], [46969237, 46969304], [46973553, 46973613], [46974989, 46975031], [46976680, 46978054], [46979742, 46979931], [46982416, 46982580], [46984352, 46984504], [46986215, 46986235]]
ENST00000475745 [[46979846, 46979931], [46982416, 46982580], [46988466, 46988525], [46989693, 46989794], [46991779, 46991953], [46993589, 46993728]] [[46982570, 46982580], [46988466, 46988525], [46989693, 46989794], [46991779, 46991953], [46993589, 46993728]]
ENST00000471487 [[46980522, 46982580], [46984352, 46984504], [46988466, 46988525], [46989693, 46989794], [46991779, 46991953], [46993589, 46993739], [47009926, 47010086]] None
ENST00000493249 [[46984352, 46984504], [46988466, 46988525], [46989693, 46989794], [46991779, 46992034]] None
ENST00000487323 [[46984427, 46984504], [46986215, 46986318], [46988466, 46988525], [46989693, 46989794], [46991779, 46991953], [46993589, 46993636]] [[46986287, 46986318], [46988466, 46988525], [46989693, 46989794], [46991779, 46991953], [46993589, 46993636]]
ENST00000371243 [[46987621, 46988233], [46988466, 46988525], [46989693, 46989794], [46991779, 46991953], [46993589, 46993739], [46995439, 46995497], [46996728, 46996840], [47009926, 47010030]] [[46988187, 46988233], [46988466, 46988525], [46989693, 46989794], [46991779, 46991953], [46993589, 46993739], [46995439, 46995497], [46996728, 46996797]]
ENST00000491283 [[46987788, 46988525], [46989693, 46989794], [46991779, 46991953], [46993589, 46993739], [47009926, 47010006]] None
ENST00000477771 [[46987789, 46988233], [46988466, 46988525], [46989693, 46989794], [46991779, 46991953], [46993589, 46993739], [46996728, 46996840], [47009926, 47010006]] None
ENST00000474800 [[46988515, 46988525], [46989693, 46989794], [46991779, 46991953], [46993589, 46993739], [46995439, 46995497], [47009926, 47010020]] None
NM_153840 [[46965439, 46968032], [46969237, 46969304], [46973553, 46973613], [46974989, 46975031], [46976680, 46978054], [46979742, 46979931], [46982416, 46982580], [46984352, 46984504], [46988466, 46988525], [46989693, 46989794], [46991779, 46991953], [46993589, 46993739], [46995439, 46995497], [46996728, 46996840], [47009926, 47010099]] [[46967958, 46968032], [46969237, 46969304], [46973553, 46973613], [46974989, 46975031], [46976680, 46978054], [46979742, 46979931], [46982416, 46982580], [46984352, 46984504], [46988466, 46988525], [46989693, 46989794], [46991779, 46991953], [46993589, 46993739], [46995439, 46995497], [46996728, 46996797]]
NM_025048 [[46987621, 46988233], [46988466, 46988525], [46989693, 46989794], [46991779, 46991953], [46993589, 46993739], [46995439, 46995497], [46996728, 46996840], [47009926, 47010099]] [[46988187, 46988233], [46988466, 46988525], [46989693, 46989794], [46991779, 46991953], [46993589, 46993739], [46995439, 46995497], [46996728, 46996797]]
Promoter
Chrom Start End Description
chr6 46996835 46996871 CAGE_peak_6_at_GPR110_5end
chr6 47009992 47009993 CAGE_peak_4_at_GPR110_5end
chr6 47009996 47010035 CAGE_peak_2_at_GPR110_5end
chr6 47010042 47010053 CAGE_peak_3_at_GPR110_5end
chr6 47010061 47010104 CAGE_peak_1_at_GPR110_5end
chr6 47010258 47010273 CAGE_peak_5_at_GPR110_5end
chr6 47010286 47010292 CAGE_peak_11_at_GPR110_5end
chr6 47010305 47010311 CAGE_peak_8_at_GPR110_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I046982 46982678 46984508 0.94 [{'connected_gene': 'SLC25A27', 'score': 12.02}, {'connected_gene': 'TDRD6', 'score': 11.54}, {'connected_gene': 'ADGRF5', 'score': 11.45}, {'connected_gene': 'PLA2G7', 'score': 10.74}, {'connected_gene': 'ADGRF1', 'score': 0.22}]
chr6 GH06I047125 47125749 47128051 1.01 [{'connected_gene': 'SLC25A27', 'score': 11.24}, {'connected_gene': 'LOC105375081', 'score': 0.39}, {'connected_gene': 'ADGRF1', 'score': 0.18}]
chr6 GH06I047034 47034370 47035961 1.3 [{'connected_gene': 'PLA2G7', 'score': 9.55}, {'connected_gene': 'ADGRF1', 'score': 5.11}, {'connected_gene': 'ADGRF5', 'score': 0.18}]
chr6 GH06I047036 47036728 47037327 0.2 [{'connected_gene': 'PLA2G7', 'score': 9.99}, {'connected_gene': 'ADGRF1', 'score': 0.44}, {'connected_gene': 'ADGRF5', 'score': 0.18}]
chr6 GH06I047132 47132285 47138619 1.75 [{'connected_gene': 'PLA2G7', 'score': 1.84}, {'connected_gene': 'LOC105375081', 'score': 0.77}, {'connected_gene': 'ADGRF1', 'score': 0.16}]
chr6 GH06I047083 47083145 47084805 0.89 [{'connected_gene': 'TNFRSF21', 'score': 11.64}, {'connected_gene': 'PLA2G7', 'score': 9.45}, {'connected_gene': 'ADGRF1', 'score': 4.63}, {'connected_gene': 'LOC105375081', 'score': 0.23}]
chr6 GH06I047074 47074871 47078364 1.18 [{'connected_gene': 'TNFRSF21', 'score': 10.59}, {'connected_gene': 'PLA2G7', 'score': 10.0}, {'connected_gene': 'ADGRF5', 'score': 9.3}, {'connected_gene': 'ADGRF1', 'score': 0.29}, {'connected_gene': 'LOC105375081', 'score': 0.21}]
chr6 GH06I047061 47061342 47062468 1.17 [{'connected_gene': 'TNFRSF21', 'score': 10.86}, {'connected_gene': 'ADGRF1', 'score': 0.37}, {'connected_gene': 'LOC105375081', 'score': 0.18}]
chr6 GH06I047046 47046816 47048398 1.39 [{'connected_gene': 'TNFRSF21', 'score': 10.76}, {'connected_gene': 'ADGRF5', 'score': 10.54}, {'connected_gene': 'PLA2G7', 'score': 9.57}, {'connected_gene': 'ADGRF1', 'score': 0.44}, {'connected_gene': 'LOC105375081', 'score': 0.16}]
chr6 GH06I047057 47057619 47060414 0.63 [{'connected_gene': 'TNFRSF21', 'score': 11.49}, {'connected_gene': 'ADGRF5', 'score': 11.13}, {'connected_gene': 'PLA2G7', 'score': 9.84}, {'connected_gene': 'ADGRF1', 'score': 0.37}, {'connected_gene': 'LOC105375081', 'score': 0.18}]
chr6 GH06I047105 47105337 47108645 0.95 [{'connected_gene': 'TNFRSF21', 'score': 11.3}, {'connected_gene': 'LOC105375081', 'score': 0.29}, {'connected_gene': 'ADGRF1', 'score': 0.21}]
chr6 GH06I047111 47111511 47112079 0.76 [{'connected_gene': 'TNFRSF21', 'score': 11.26}, {'connected_gene': 'LOC105375081', 'score': 0.31}, {'connected_gene': 'ADGRF1', 'score': 0.2}]
chr6 GH06I047116 47116209 47118017 0.71 [{'connected_gene': 'TNFRSF21', 'score': 11.23}, {'connected_gene': 'LOC105375081', 'score': 0.34}, {'connected_gene': 'ADGRF1', 'score': 0.19}]
chr6 GH06I047096 47096125 47099636 1.1 [{'connected_gene': 'TNFRSF21', 'score': 11.66}, {'connected_gene': 'LOC105375081', 'score': 0.26}, {'connected_gene': 'ADGRF1', 'score': 0.22}]
chr6 GH06I047073 47073502 47073516 0.91 [{'connected_gene': 'ADGRF1', 'score': 0.29}, {'connected_gene': 'LOC105375081', 'score': 0.2}]
chr6 GH06I047041 47041309 47045908 1.59 [{'connected_gene': 'ADGRF1', 'score': 555.73}, {'connected_gene': 'LOC105375081', 'score': 0.15}]
chr6 GH06I047092 47092035 47095298 1.11 [{'connected_gene': 'ADGRF1', 'score': 4.57}, {'connected_gene': 'LOC105375081', 'score': 0.26}]
chr6 GH06I046995 46995691 46998415 0.54 [{'connected_gene': 'ADGRF5', 'score': 11.29}, {'connected_gene': 'PLA2G7', 'score': 10.7}, {'connected_gene': 'TNFRSF21', 'score': 9.75}, {'connected_gene': 'TDRD6', 'score': 9.71}, {'connected_gene': 'ADGRF1', 'score': 0.25}]
chr6 GH06I046990 46989882 46991227 0.89 [{'connected_gene': 'ADGRF5', 'score': 11.3}, {'connected_gene': 'PLA2G7', 'score': 10.71}, {'connected_gene': 'ADGRF1', 'score': 0.23}]
chr6 GH06I046993 46993404 46994801 0.46 [{'connected_gene': 'ADGRF5', 'score': 11.3}, {'connected_gene': 'PLA2G7', 'score': 10.71}, {'connected_gene': 'ADGRF1', 'score': 0.25}]
chr6 GH06I046954 46954926 46954985 0.88 [{'connected_gene': 'ADGRF5', 'score': 550.77}, {'connected_gene': 'ADGRF1', 'score': 0.17}]
chr6 GH06I046963 46963851 46965513 0.63 [{'connected_gene': 'LOC101926962', 'score': 9.83}, {'connected_gene': 'PLA2G7', 'score': 9.66}, {'connected_gene': 'ADGRF5', 'score': 0.44}, {'connected_gene': 'ADGRF1', 'score': 0.18}]
chr6 GH06I046989 46989604 46989773 0.49 [{'connected_gene': 'LOC101926962', 'score': 10.85}, {'connected_gene': 'ADGRF5', 'score': 0.29}, {'connected_gene': 'ADGRF1', 'score': 0.23}]