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
ENST00000418917 [[100428204, 100428275], [100432486, 100432713], [100438818, 100438902], [100447555, 100447702], [100451351, 100451516], [100455419, 100455548], [100463676, 100463775], [100466992, 100467786]] [[100432529, 100432713], [100438818, 100438902], [100447555, 100447702], [100451351, 100451516], [100455419, 100455548], [100463676, 100463775], [100466992, 100467375]]
ENST00000490574 [[100428221, 100428275], [100432486, 100432713], [100438818, 100438902], [100447555, 100447702], [100451351, 100451516], [100455419, 100455560], [100463676, 100463775], [100466992, 100467771]] [[100432529, 100432713], [100438818, 100438902], [100447555, 100447702], [100451351, 100451516], [100455419, 100455560], [100463676, 100463775], [100466992, 100467375]]
ENST00000240851 [[100428268, 100428565], [100432486, 100432713], [100438818, 100438902], [100447555, 100447702], [100451351, 100451516], [100455419, 100455560], [100463676, 100463775], [100466992, 100467810]] [[100432529, 100432713], [100438818, 100438902], [100447555, 100447702], [100451351, 100451516], [100455419, 100455560], [100463676, 100463775], [100466992, 100467375]]
ENST00000479672 [[100428315, 100428565], [100429814, 100429912], [100432486, 100432713], [100438818, 100438902], [100447555, 100447672]] [[100432529, 100432713], [100438818, 100438902], [100447555, 100447672]]
ENST00000476228 [[100428449, 100428565], [100432486, 100432713], [100438818, 100438902], [100447555, 100447702], [100451351, 100451516], [100455419, 100455548], [100463676, 100463775], [100466992, 100467808]] [[100432529, 100432713], [100438818, 100438902], [100447555, 100447702], [100451351, 100451516], [100455419, 100455548], [100463676, 100463775], [100466992, 100467375]]
ENST00000463568 [[100428456, 100428665], [100432486, 100432713], [100438818, 100438902], [100447555, 100447702], [100451351, 100451407]] [[100432529, 100432713], [100438818, 100438902], [100447555, 100447702], [100451351, 100451407]]
ENST00000487505 [[100428813, 100429139], [100432486, 100432713], [100438818, 100438902], [100447555, 100447702], [100451351, 100451480]] [[100432529, 100432713], [100438818, 100438902], [100447555, 100447702], [100451351, 100451480]]
ENST00000481203 [[100461319, 100463775], [100466992, 100467807]] None
NM_001007565 [[100428133, 100428275], [100432486, 100432713], [100438818, 100438902], [100447555, 100447702], [100451351, 100451516], [100455419, 100455560], [100463676, 100463775], [100466992, 100467811]] [[100432529, 100432713], [100438818, 100438902], [100447555, 100447702], [100451351, 100451516], [100455419, 100455560], [100463676, 100463775], [100466992, 100467375]]
NM_001195479 [[100428174, 100428565], [100432486, 100432713], [100438818, 100438902], [100447555, 100447702], [100451351, 100451516], [100455419, 100455548], [100463676, 100463775], [100466992, 100467811]] [[100432529, 100432713], [100438818, 100438902], [100447555, 100447702], [100451351, 100451516], [100455419, 100455548], [100463676, 100463775], [100466992, 100467375]]
NM_006070 [[100428174, 100428565], [100432486, 100432713], [100438818, 100438902], [100447555, 100447702], [100451351, 100451516], [100455419, 100455560], [100463676, 100463775], [100466992, 100467811]] [[100432529, 100432713], [100438818, 100438902], [100447555, 100447702], [100451351, 100451516], [100455419, 100455560], [100463676, 100463775], [100466992, 100467375]]
NM_001195478 [[100428385, 100428432], [100432486, 100432713], [100438818, 100438902], [100447555, 100447702], [100451351, 100451516], [100455419, 100455560], [100463676, 100463775], [100466992, 100467811]] [[100432529, 100432713], [100438818, 100438902], [100447555, 100447702], [100451351, 100451516], [100455419, 100455560], [100463676, 100463775], [100466992, 100467375]]
Promoter
Chrom Start End Description
chr3 100428140 100428151 CAGE_peak_7_at_TFG_5end
chr3 100428165 100428186 CAGE_peak_6_at_TFG_5end
chr3 100428188 100428213 CAGE_peak_4_at_TFG_5end
chr3 100428249 100428260 CAGE_peak_8_at_TFG_5end
chr3 100428268 100428287 CAGE_peak_5_at_TFG_5end
chr3 100428317 100428471 CAGE_peak_1_at_TFG_5end
chr3 100428487 100428506 CAGE_peak_2_at_TFG_5end
chr3 100428509 100428529 CAGE_peak_3_at_TFG_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I100608 100608852 100616052 1.47 [{'connected_gene': 'ADGRG7', 'score': 550.77}, {'connected_gene': 'TFG', 'score': 16.39}, {'connected_gene': 'ENSG00000252989', 'score': 11.27}, {'connected_gene': 'TOMM70', 'score': 5.81}, {'connected_gene': 'TMEM45A', 'score': 5.01}, {'connected_gene': 'LNP1', 'score': 4.8}, {'connected_gene': 'GC03M100588', 'score': 0.37}]
chr3 GH03I100309 100309248 100309631 0.22 [{'connected_gene': 'NIT2', 'score': 11.94}, {'connected_gene': 'TBC1D23', 'score': 11.91}, {'connected_gene': 'LNP1', 'score': 10.82}, {'connected_gene': 'TOMM70', 'score': 10.82}, {'connected_gene': 'TFG', 'score': 9.79}]
chr3 GH03I100518 100518537 100520035 0.46 [{'connected_gene': 'TMEM45A', 'score': 8.66}, {'connected_gene': 'TOMM70', 'score': 5.21}, {'connected_gene': 'TFG', 'score': 5.11}, {'connected_gene': 'GC03P100533', 'score': 0.39}]
chr3 GH03I100520 100520411 100523530 0.75 [{'connected_gene': 'TMEM45A', 'score': 16.61}, {'connected_gene': 'TFG', 'score': 5.17}, {'connected_gene': 'GC03P100533', 'score': 0.39}]
chr3 GH03I101683 101683221 101688387 2.37 [{'connected_gene': 'RPL24', 'score': 574.35}, {'connected_gene': 'LOC105374013', 'score': 550.77}, {'connected_gene': 'GC03P101686', 'score': 550.77}, {'connected_gene': 'ZBTB11-AS1', 'score': 42.56}, {'connected_gene': 'SENP7', 'score': 34.15}, {'connected_gene': 'RPS18P5', 'score': 26.94}, {'connected_gene': 'ZNF90P1', 'score': 19.03}, {'connected_gene': 'ZBTB11', 'score': 16.4}, {'connected_gene': 'TFG', 'score': 10.71}, {'connected_gene': 'PDCL3P4', 'score': 10.62}, {'connected_gene': 'NXPE3', 'score': 10.2}, {'connected_gene': 'PCNP', 'score': 2.81}, {'connected_gene': 'TRMT10C', 'score': 1.36}, {'connected_gene': 'NFKBIZ', 'score': 1.32}]
chr3 GH03I100399 100399390 100404289 2.07 [{'connected_gene': 'LNP1', 'score': 570.83}, {'connected_gene': 'TOMM70', 'score': 558.51}, {'connected_gene': 'PIR48705', 'score': 550.77}, {'connected_gene': 'TBC1D23', 'score': 11.06}, {'connected_gene': 'TFG', 'score': 9.84}, {'connected_gene': 'GC03P100464', 'score': 0.21}]
chr3 GH03I100316 100316657 100316846 0.67 [{'connected_gene': 'LNP1', 'score': 10.59}, {'connected_gene': 'TOMM70', 'score': 10.59}, {'connected_gene': 'TFG', 'score': 10.31}, {'connected_gene': 'TBC1D23', 'score': 7.37}, {'connected_gene': 'NIT2', 'score': 0.37}]
chr3 GH03I100639 100639888 100642774 1.21 [{'connected_gene': 'TFG', 'score': 15.53}, {'connected_gene': 'ADGRG7', 'score': 11.19}, {'connected_gene': 'TMEM45A', 'score': 5.61}, {'connected_gene': 'LNP1', 'score': 4.07}, {'connected_gene': 'ENSG00000252989', 'score': 0.77}, {'connected_gene': 'GC03M100588', 'score': 0.39}]
chr3 GH03I100599 100599715 100601560 0.76 [{'connected_gene': 'TFG', 'score': 18.31}, {'connected_gene': 'TMEM45A', 'score': 6.36}, {'connected_gene': 'ADGRG7', 'score': 0.44}, {'connected_gene': 'GC03P100589', 'score': 0.39}, {'connected_gene': 'GC03M100588', 'score': 0.31}]
chr3 GH03I100602 100602130 100604042 1.26 [{'connected_gene': 'TFG', 'score': 18.18}, {'connected_gene': 'TMEM45A', 'score': 6.6}, {'connected_gene': 'ADGRG7', 'score': 0.44}, {'connected_gene': 'GC03P100589', 'score': 0.39}, {'connected_gene': 'GC03M100588', 'score': 0.31}]
chr3 GH03I100634 100634595 100637404 1.29 [{'connected_gene': 'TFG', 'score': 7.61}, {'connected_gene': 'TMEM45A', 'score': 5.89}, {'connected_gene': 'LNP1', 'score': 4.29}, {'connected_gene': 'GC03M100588', 'score': 0.44}, {'connected_gene': 'ENSG00000252989', 'score': 0.39}, {'connected_gene': 'ADGRG7', 'score': 0.31}]
chr3 GH03I100763 100763611 100763939 0.22 [{'connected_gene': 'TFG', 'score': 11.04}, {'connected_gene': 'TMEM45A', 'score': 3.92}, {'connected_gene': 'GC03P100766', 'score': 0.77}, {'connected_gene': 'GC03P100743', 'score': 0.34}, {'connected_gene': 'ABI3BP', 'score': 0.07}]
chr3 GH03I100591 100591089 100592181 0.69 [{'connected_gene': 'TFG', 'score': 18.35}, {'connected_gene': 'LNP1', 'score': 10.96}, {'connected_gene': 'TOMM70', 'score': 10.96}, {'connected_gene': 'TMEM45A', 'score': 7.45}, {'connected_gene': 'GC03P100589', 'score': 0.77}, {'connected_gene': 'ADGRG7', 'score': 0.37}, {'connected_gene': 'GC03M100588', 'score': 0.28}]
chr3 GH03I100681 100681008 100683899 0.59 [{'connected_gene': 'TFG', 'score': 18.31}, {'connected_gene': 'ENSG00000252989', 'score': 11.58}, {'connected_gene': 'LNP1', 'score': 9.32}, {'connected_gene': 'TMEM45A', 'score': 4.58}, {'connected_gene': 'GMFBP1', 'score': 0.37}, {'connected_gene': 'ADGRG7', 'score': 0.19}]
chr3 GH03I100706 100706709 100706864 0.38 [{'connected_gene': 'TFG', 'score': 9.02}, {'connected_gene': 'LNP1', 'score': 8.21}, {'connected_gene': 'GMFBP1', 'score': 0.26}]
chr3 GH03I100707 100707367 100711329 2 [{'connected_gene': 'TFG', 'score': 560.28}, {'connected_gene': 'LNP1', 'score': 8.22}, {'connected_gene': 'GC03M100717', 'score': 0.39}]
chr3 GH03I100650 100650561 100651655 0.95 [{'connected_gene': 'TFG', 'score': 18.07}, {'connected_gene': 'ENSG00000252989', 'score': 0.77}, {'connected_gene': 'GMFBP1', 'score': 0.39}, {'connected_gene': 'ADGRG7', 'score': 0.26}]
chr3 GH03I101122 101122319 101123895 0.31 [{'connected_gene': 'TFG', 'score': 4.77}, {'connected_gene': 'ACTR3P3', 'score': 0.28}, {'connected_gene': 'GC03P101086', 'score': 0.28}]
chr3 GH03I100665 100665201 100665400 0.38 [{'connected_gene': 'GMFBP1', 'score': 550.77}, {'connected_gene': 'TFG', 'score': 12.03}, {'connected_gene': 'ADGRG7', 'score': 10.98}, {'connected_gene': 'ENSG00000252989', 'score': 0.37}]
chr3 GH03I101643 101643269 101645033 1.28 [{'connected_gene': 'ZBTB11-AS1', 'score': 24.26}, {'connected_gene': 'RPL24', 'score': 22.97}, {'connected_gene': 'NXPE3', 'score': 17.86}, {'connected_gene': 'SENP7', 'score': 17.15}, {'connected_gene': 'TFG', 'score': 12.43}, {'connected_gene': 'PDCL3P4', 'score': 6.06}, {'connected_gene': 'GC03P101648', 'score': 0.77}, {'connected_gene': 'PIR36650', 'score': 0.44}]
chr3 GH03I100628 100628957 100630628 0.96 [{'connected_gene': 'GC03M100588', 'score': 550.77}, {'connected_gene': 'TFG', 'score': 17.2}, {'connected_gene': 'ADGRG7', 'score': 13.22}, {'connected_gene': 'ENSG00000252989', 'score': 0.37}]
chr3 GH03I100696 100696437 100699565 0.71 [{'connected_gene': 'ENSG00000252989', 'score': 10.27}, {'connected_gene': 'TFG', 'score': 8.44}, {'connected_gene': 'LNP1', 'score': 8.31}, {'connected_gene': 'ADGRG7', 'score': 8.13}, {'connected_gene': 'GMFBP1', 'score': 0.29}]