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
ENST00000419999 [[29072686, 29073108], [29073193, 29073271], [29073964, 29074149]] [[29073064, 29073108], [29073193, 29073271], [29073964, 29074149]]
ENST00000306108 [[29072686, 29073108], [29073193, 29073271], [29073937, 29074164], [29075273, 29075365], [29083983, 29084174], [29087882, 29087985], [29092444, 29093167]] [[29073064, 29073108], [29073193, 29073271], [29073937, 29074164], [29075273, 29075365], [29083983, 29084174], [29087882, 29087985], [29092444, 29093143]]
ENST00000439947 [[29072705, 29073108], [29073193, 29073271], [29075273, 29075365], [29083983, 29084174], [29087882, 29087985], [29092444, 29093161]] [[29073255, 29073271], [29075273, 29075365], [29083983, 29084174], [29087882, 29087985], [29092444, 29093143]]
ENST00000490390 [[29074056, 29074164], [29075273, 29075365], [29083983, 29084356]] None
ENST00000484060 [[29074134, 29074164], [29075273, 29075365], [29083983, 29084174], [29084777, 29084815]] None
NM_017910 [[29072686, 29073108], [29073193, 29073271], [29073937, 29074164], [29075273, 29075365], [29083983, 29084174], [29087882, 29087985], [29092444, 29093175]] [[29073064, 29073108], [29073193, 29073271], [29073937, 29074164], [29075273, 29075365], [29083983, 29084174], [29087882, 29087985], [29092444, 29093143]]
Promoter
Chrom Start End Description
chr2 29093132 29093183 CAGE_peak_1_at_TRMT61B_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I027884 27884926 27892403 2.5 [{'connected_gene': 'RBKS', 'score': 550.77}, {'connected_gene': 'BABAM2', 'score': 550.77}, {'connected_gene': 'TRMT61B', 'score': 10.11}, {'connected_gene': 'KRTCAP3', 'score': 5.24}, {'connected_gene': 'FNDC4', 'score': 5.23}, {'connected_gene': 'SLC4A1AP', 'score': 4.45}, {'connected_gene': 'BRE-AS1', 'score': 0.77}, {'connected_gene': 'GC02P027841', 'score': 0.25}, {'connected_gene': 'MRPL33', 'score': 0.13}, {'connected_gene': 'GC02M027478', 'score': 0.06}]
chr2 GH02I028705 28705442 28711796 1.07 [{'connected_gene': 'TRMT61B', 'score': 23.28}, {'connected_gene': 'PPP1CB', 'score': 22.26}, {'connected_gene': 'ENSG00000230730', 'score': 11.5}, {'connected_gene': 'SPDYA', 'score': 10.27}, {'connected_gene': 'WDR43', 'score': 7.37}, {'connected_gene': 'RNA5SP89', 'score': 0.34}, {'connected_gene': 'LOC100505774', 'score': 0.26}]
chr2 GH02I028786 28786830 28787036 0.26 [{'connected_gene': 'TRMT61B', 'score': 34.86}, {'connected_gene': 'PPP1CB', 'score': 2.7}, {'connected_gene': 'FOSL2', 'score': 1.77}, {'connected_gene': 'SPDYA', 'score': 0.77}, {'connected_gene': 'ENSG00000273233', 'score': 0.34}]
chr2 GH02I028735 28735581 28736864 1.06 [{'connected_gene': 'TRMT61B', 'score': 21.99}, {'connected_gene': 'PPP1CB', 'score': 0.37}, {'connected_gene': 'LOC100505774', 'score': 0.37}, {'connected_gene': 'RNA5SP89', 'score': 0.23}]
chr2 GH02I028728 28728609 28729753 0.38 [{'connected_gene': 'TRMT61B', 'score': 23.45}, {'connected_gene': 'PPP1CB', 'score': 0.34}, {'connected_gene': 'LOC100505774', 'score': 0.34}, {'connected_gene': 'RNA5SP89', 'score': 0.25}]
chr2 GH02I028744 28744574 28747061 0.43 [{'connected_gene': 'TRMT61B', 'score': 43.35}, {'connected_gene': 'ENSG00000230730', 'score': 10.69}, {'connected_gene': 'PPP1CB', 'score': 0.44}, {'connected_gene': 'LOC100505774', 'score': 0.44}, {'connected_gene': 'RNA5SP89', 'score': 0.21}]
chr2 GH02I028771 28771201 28771400 0.2 [{'connected_gene': 'TRMT61B', 'score': 28.64}, {'connected_gene': 'ENSG00000230730', 'score': 9.98}, {'connected_gene': 'SPDYA', 'score': 0.39}, {'connected_gene': 'PPP1CB', 'score': 0.37}, {'connected_gene': 'LOC100505774', 'score': 0.37}]
chr2 GH02I028713 28713273 28718709 1.68 [{'connected_gene': 'TRMT61B', 'score': 23.45}, {'connected_gene': 'FOSL2', 'score': 16.24}, {'connected_gene': 'PPP1CB', 'score': 14.74}, {'connected_gene': 'ENSG00000230730', 'score': 11.45}, {'connected_gene': 'WDR43', 'score': 5.08}, {'connected_gene': 'RNA5SP89', 'score': 0.29}, {'connected_gene': 'LOC100505774', 'score': 0.28}]
chr2 GH02I028802 28802282 28803998 0.82 [{'connected_gene': 'TRMT61B', 'score': 50.54}, {'connected_gene': 'WDR43', 'score': 16.32}, {'connected_gene': 'PPP1CB', 'score': 12.74}, {'connected_gene': 'SPDYA', 'score': 12.0}, {'connected_gene': 'ENSG00000230730', 'score': 9.91}, {'connected_gene': 'FOSL2', 'score': 4.25}, {'connected_gene': 'ENSG00000273233', 'score': 0.44}]
chr2 GH02I028904 28904415 28904604 0.54 [{'connected_gene': 'TRMT61B', 'score': 11.43}, {'connected_gene': 'WDR43', 'score': 0.44}, {'connected_gene': 'GC02P028913', 'score': 0.44}]
chr2 GH02I028821 28821401 28821624 0.96 [{'connected_gene': 'TRMT61B', 'score': 46.99}, {'connected_gene': 'TOGARAM2', 'score': 11.28}, {'connected_gene': 'SPDYA', 'score': 10.92}, {'connected_gene': 'WDR43', 'score': 10.8}, {'connected_gene': 'ENSG00000230730', 'score': 9.06}, {'connected_gene': 'ENSG00000273233', 'score': 0.39}]
chr2 GH02I028868 28868991 28871208 2.08 [{'connected_gene': 'TRMT61B', 'score': 594.23}, {'connected_gene': 'TOGARAM2', 'score': 21.89}, {'connected_gene': 'WDR43', 'score': 19.17}, {'connected_gene': 'FOSL2', 'score': 10.67}, {'connected_gene': 'FLJ31356', 'score': 10.24}, {'connected_gene': 'ENSG00000273233', 'score': 0.22}]
chr2 GH02I029165 29165243 29166355 0.88 [{'connected_gene': 'TRMT61B', 'score': 13.84}, {'connected_gene': 'LOC105374386', 'score': 11.47}, {'connected_gene': 'CLIP4', 'score': 11.47}, {'connected_gene': 'TOGARAM2', 'score': 10.91}, {'connected_gene': 'C2orf71', 'score': 5.86}, {'connected_gene': 'GC02P029290', 'score': 0.13}]
chr2 GH02I028701 28701709 28703471 0.75 [{'connected_gene': 'TRMT61B', 'score': 23.14}, {'connected_gene': 'RNA5SP89', 'score': 0.37}, {'connected_gene': 'PPP1CB', 'score': 0.25}]
chr2 GH02I028852 28852794 28853126 0.24 [{'connected_gene': 'TRMT61B', 'score': 2.01}, {'connected_gene': 'ENSG00000273233', 'score': 0.26}]
chr2 GH02I028837 28837582 28837774 0.24 [{'connected_gene': 'PPP1CB', 'score': 2.43}, {'connected_gene': 'ENSG00000273233', 'score': 0.31}, {'connected_gene': 'TRMT61B', 'score': 0.29}, {'connected_gene': 'SPDYA', 'score': 0.22}]
chr2 GH02I028542 28542235 28549253 1.59 [{'connected_gene': 'PPP1CB', 'score': 11.03}, {'connected_gene': 'ENSG00000230730', 'score': 10.79}, {'connected_gene': 'PLB1', 'score': 10.05}, {'connected_gene': 'TRMT61B', 'score': 6.0}, {'connected_gene': 'SPDYA', 'score': 1.48}, {'connected_gene': 'WDR43', 'score': 1.4}, {'connected_gene': 'SNRPGP7', 'score': 0.17}]
chr2 GH02I028747 28747490 28756800 2.76 [{'connected_gene': 'PPP1CB', 'score': 565.6}, {'connected_gene': 'LOC100505774', 'score': 550.77}, {'connected_gene': 'TRMT61B', 'score': 42.58}, {'connected_gene': 'TOGARAM2', 'score': 18.81}, {'connected_gene': 'SPDYA', 'score': 12.03}, {'connected_gene': 'ENSG00000230730', 'score': 10.17}, {'connected_gene': 'WDR43', 'score': 5.32}, {'connected_gene': 'FOSL2', 'score': 2.94}]
chr2 GH02I028809 28809915 28811344 1.62 [{'connected_gene': 'SPDYA', 'score': 562.1}, {'connected_gene': 'ENSG00000273233', 'score': 550.77}, {'connected_gene': 'TRMT61B', 'score': 11.38}, {'connected_gene': 'TOGARAM2', 'score': 10.65}]
chr2 GH02I028832 28832232 28832477 0.24 [{'connected_gene': 'SPDYA', 'score': 1.9}, {'connected_gene': 'ENSG00000273233', 'score': 0.34}, {'connected_gene': 'TRMT61B', 'score': 0.28}]
chr2 GH02I028358 28358369 28362339 1.75 [{'connected_gene': 'FOSL2', 'score': 41.17}, {'connected_gene': 'EIF2B4', 'score': 14.21}, {'connected_gene': 'LOC100505716', 'score': 13.18}, {'connected_gene': 'FLJ31356', 'score': 12.37}, {'connected_gene': 'TRMT61B', 'score': 11.48}, {'connected_gene': 'WDR43', 'score': 10.96}, {'connected_gene': 'GPN1', 'score': 10.93}, {'connected_gene': 'RBKS', 'score': 10.71}, {'connected_gene': 'SUPT7L', 'score': 10.66}, {'connected_gene': 'ZNF512', 'score': 10.14}, {'connected_gene': 'PPP1CB', 'score': 2.92}, {'connected_gene': 'LOC105374382', 'score': 0.77}, {'connected_gene': 'LOC105374383', 'score': 0.37}]
chr2 GH02I028893 28893801 28897204 2.09 [{'connected_gene': 'WDR43', 'score': 559.49}, {'connected_gene': 'TOGARAM2', 'score': 30.86}, {'connected_gene': 'TRMT61B', 'score': 14.83}, {'connected_gene': 'GC02P028913', 'score': 0.37}]
chr2 GH02I028950 28950397 28953400 1.34 [{'connected_gene': 'TOGARAM2', 'score': 19.88}, {'connected_gene': 'TRMT61B', 'score': 13.97}, {'connected_gene': 'WDR43', 'score': 8.61}, {'connected_gene': 'PPP1CB', 'score': 1.65}, {'connected_gene': 'SNORD53B', 'score': 0.34}]
chr2 GH02I028955 28955995 28957000 0.94 [{'connected_gene': 'TOGARAM2', 'score': 570.02}, {'connected_gene': 'TRMT61B', 'score': 13.86}, {'connected_gene': 'SNORD53B', 'score': 0.31}]
chr2 GH02I029008 29008690 29018479 1.12 [{'connected_gene': 'TOGARAM2', 'score': 28.27}, {'connected_gene': 'C2orf71', 'score': 5.39}, {'connected_gene': 'PPP1CB', 'score': 5.32}, {'connected_gene': 'TRMT61B', 'score': 4.55}, {'connected_gene': 'ENSG00000200283', 'score': 0.26}, {'connected_gene': 'LOC105374385', 'score': 0.23}]
chr2 GH02I028926 28926136 28929067 0.49 [{'connected_gene': 'SNORD53B', 'score': 550.77}, {'connected_gene': 'GC02P028935', 'score': 550.77}, {'connected_gene': 'GC02P028933', 'score': 550.77}, {'connected_gene': 'GC02P028930', 'score': 550.77}, {'connected_gene': 'SNORD53', 'score': 550.77}, {'connected_gene': 'ENSG00000222224', 'score': 550.77}, {'connected_gene': 'TRMT61B', 'score': 29.97}, {'connected_gene': 'WDR43', 'score': 18.27}]
chr2 GH02I028660 28659666 28666102 1.31 [{'connected_gene': 'ENSG00000230730', 'score': 570.8}, {'connected_gene': 'SUPT7L', 'score': 13.51}, {'connected_gene': 'TRMT61B', 'score': 5.39}, {'connected_gene': 'PPP1CB', 'score': 5.13}, {'connected_gene': 'PLB1', 'score': 4.79}, {'connected_gene': 'SNRPGP7', 'score': 0.08}]
chr2 GH02I028609 28609502 28616114 1.63 [{'connected_gene': 'ENSG00000230730', 'score': 33.96}, {'connected_gene': 'SUPT7L', 'score': 19.13}, {'connected_gene': 'PPP1CB', 'score': 16.86}, {'connected_gene': 'LOC100505774', 'score': 11.02}, {'connected_gene': 'SPDYA', 'score': 10.4}, {'connected_gene': 'PLB1', 'score': 8.51}, {'connected_gene': 'TRMT61B', 'score': 2.6}, {'connected_gene': 'SNRPGP7', 'score': 0.1}]
chr2 GH02I028651 28651980 28656295 0.83 [{'connected_gene': 'ENSG00000230730', 'score': 18.98}, {'connected_gene': 'PPP1CB', 'score': 15.91}, {'connected_gene': 'LOC100505774', 'score': 11.32}, {'connected_gene': 'TRMT61B', 'score': 5.37}, {'connected_gene': 'PLB1', 'score': 4.45}, {'connected_gene': 'SNRPGP7', 'score': 0.08}]
chr2 GH02I028617 28617645 28628863 1.71 [{'connected_gene': 'ENSG00000230730', 'score': 33.4}, {'connected_gene': 'PPP1CB', 'score': 12.56}, {'connected_gene': 'LOC100505774', 'score': 11.18}, {'connected_gene': 'PLB1', 'score': 10.73}, {'connected_gene': 'TRMT61B', 'score': 5.74}, {'connected_gene': 'FOSL2', 'score': 4.04}, {'connected_gene': 'SNRPGP7', 'score': 0.1}]