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
ENST00000495146 [[26256975, 26257604], [26321530, 26321591], [26350012, 26350102], [26350718, 26350820], [26357806, 26358216]] None
ENST00000264710 [[26256978, 26257604], [26321530, 26321591], [26332636, 26332775], [26350012, 26350102], [26350718, 26350820], [26357806, 26360323]] [[26257477, 26257604], [26321530, 26321591], [26332636, 26332775], [26350012, 26350102], [26350718, 26350820], [26357806, 26357890]]
ENST00000462003 [[26321398, 26321446], [26321530, 26321591], [26332636, 26332775], [26350012, 26350147], [26350718, 26350820], [26357806, 26357905]] None
ENST00000473035 [[26321398, 26321446], [26321530, 26321591], [26332636, 26332775], [26350012, 26350102], [26350718, 26350820], [26357806, 26357937]] None
NM_016131 [[26256728, 26257604], [26321530, 26321591], [26332636, 26332775], [26350012, 26350102], [26350718, 26350820], [26357806, 26360323]] [[26257477, 26257604], [26321530, 26321591], [26332636, 26332775], [26350012, 26350102], [26350718, 26350820], [26357806, 26357890]]
Promoter
Chrom Start End Description
chr2 26256938 26257031 CAGE_peak_1_at_RAB10_5end
chr2 26257054 26257071 CAGE_peak_2_at_RAB10_5end
chr2 26257206 26257229 CAGE_peak_5_at_RAB10_5end
chr2 26257234 26257336 CAGE_peak_3_at_RAB10_5end
chr2 26257346 26257357 CAGE_peak_15_at_RAB10_5end
chr2 26257462 26257473 CAGE_peak_9_at_RAB10_5end
chr2 26257526 26257548 CAGE_peak_6_at_RAB10_5end
chr2 26357851 26357949 CAGE_peak_4_at_RAB10_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I026493 26493537 26493898 0.64 [{'connected_gene': 'OTOF', 'score': 17.16}, {'connected_gene': 'C2orf70', 'score': 11.3}, {'connected_gene': 'RAB10', 'score': 5.89}, {'connected_gene': 'GAREM2', 'score': 1.98}, {'connected_gene': 'DRC1', 'score': 0.16}]
chr2 GH02I026410 26410650 26413183 1.46 [{'connected_gene': 'ATRAID', 'score': 11.99}, {'connected_gene': 'HADHA', 'score': 10.37}, {'connected_gene': 'OST4', 'score': 10.03}, {'connected_gene': 'RAB10', 'score': 8.67}, {'connected_gene': 'SELENOI', 'score': 7.09}, {'connected_gene': 'DRC1', 'score': 6.11}, {'connected_gene': 'ADGRF3', 'score': 4.43}, {'connected_gene': 'CENPA', 'score': 4.38}, {'connected_gene': 'OTOF', 'score': 0.11}]
chr2 GH02I026052 26052058 26053788 0.38 [{'connected_gene': 'KIF3C', 'score': 10.86}, {'connected_gene': 'GAREM2', 'score': 9.19}, {'connected_gene': 'GC02P026059', 'score': 0.44}, {'connected_gene': 'LOC105374333', 'score': 0.44}, {'connected_gene': 'RAB10', 'score': 0.37}]
chr2 GH02I025920 25920472 25920621 0.49 [{'connected_gene': 'KIF3C', 'score': 11.17}, {'connected_gene': 'RAB10', 'score': 10.66}, {'connected_gene': 'RNU6-942P', 'score': 10.65}, {'connected_gene': 'NDUFB4P4', 'score': 0.29}]
chr2 GH02I025951 25951112 25951321 1.12 [{'connected_gene': 'KIF3C', 'score': 17.18}, {'connected_gene': 'RAB10', 'score': 11.01}, {'connected_gene': 'RNU6-942P', 'score': 10.99}, {'connected_gene': 'NDUFB4P4', 'score': 0.21}]
chr2 GH02I025916 25916372 25916910 0.66 [{'connected_gene': 'KIF3C', 'score': 19.95}, {'connected_gene': 'RNU6-942P', 'score': 10.65}, {'connected_gene': 'RAB10', 'score': 10.65}, {'connected_gene': 'NDUFB4P4', 'score': 0.31}]
chr2 GH02I025649 25649358 25652084 1.57 [{'connected_gene': 'DTNB', 'score': 567.74}, {'connected_gene': 'POMC', 'score': 9.9}, {'connected_gene': 'RAB10', 'score': 2.04}, {'connected_gene': 'GC02P025633', 'score': 0.37}]
chr2 GH02I026074 26074601 26075520 0.76 [{'connected_gene': 'GAREM2', 'score': 6.91}, {'connected_gene': 'GC02P026059', 'score': 0.37}, {'connected_gene': 'RPS2P15', 'score': 0.31}, {'connected_gene': 'LOC105374333', 'score': 0.31}, {'connected_gene': 'RAB10', 'score': 0.26}]
chr2 GH02I026081 26081401 26082200 0.58 [{'connected_gene': 'GAREM2', 'score': 6.83}, {'connected_gene': 'GC02P026059', 'score': 0.34}, {'connected_gene': 'RPS2P15', 'score': 0.34}, {'connected_gene': 'LOC105374333', 'score': 0.28}, {'connected_gene': 'RAB10', 'score': 0.25}]
chr2 GH02I026032 26032284 26036690 2.6 [{'connected_gene': 'RAB10', 'score': 565.24}, {'connected_gene': 'SLC35F6', 'score': 10.03}, {'connected_gene': 'GAREM2', 'score': 8.43}, {'connected_gene': 'GC02P026043', 'score': 0.44}]
chr2 GH02I025566 25566601 25567890 1.26 [{'connected_gene': 'RAB10', 'score': 1.71}, {'connected_gene': 'GC02P025633', 'score': 0.2}, {'connected_gene': 'GC02P025491', 'score': 0.18}, {'connected_gene': 'DTNB', 'score': 0.14}]
chr2 GH02I026382 26382671 26382958 0.37 [{'connected_gene': 'RAB10', 'score': 3.98}, {'connected_gene': 'GC02M026396', 'score': 0.39}, {'connected_gene': 'ADGRF3', 'score': 0.28}, {'connected_gene': 'SELENOI', 'score': 0.19}]
chr2 GH02I025999 25999803 26003999 1.52 [{'connected_gene': 'RAB10', 'score': 16.67}, {'connected_gene': 'RNU6-942P', 'score': 12.23}, {'connected_gene': 'ASXL2', 'score': 10.64}, {'connected_gene': 'DNMT3A', 'score': 9.93}, {'connected_gene': 'GAREM2', 'score': 6.01}, {'connected_gene': 'GC02P025994', 'score': 0.44}, {'connected_gene': 'GC02M025991', 'score': 0.31}, {'connected_gene': 'TRMT112P6', 'score': 0.31}]
chr2 GH02I026011 26011045 26014067 1.67 [{'connected_gene': 'RAB10', 'score': 17.16}, {'connected_gene': 'RNU6-942P', 'score': 12.76}, {'connected_gene': 'KIF3C', 'score': 11.33}, {'connected_gene': 'SLC35F6', 'score': 10.03}, {'connected_gene': 'GAREM2', 'score': 5.45}, {'connected_gene': 'GC02P025994', 'score': 0.37}, {'connected_gene': 'GC02M025991', 'score': 0.37}, {'connected_gene': 'TRMT112P6', 'score': 0.37}]
chr2 GH02I026007 26007602 26010399 1.46 [{'connected_gene': 'RAB10', 'score': 26.99}, {'connected_gene': 'RNU6-942P', 'score': 12.76}, {'connected_gene': 'KIF3C', 'score': 11.45}, {'connected_gene': 'GAREM2', 'score': 4.48}, {'connected_gene': 'GC02P025994', 'score': 0.39}, {'connected_gene': 'TRMT112P6', 'score': 0.37}, {'connected_gene': 'GC02M025991', 'score': 0.34}]
chr2 GH02I026066 26066938 26070693 1.62 [{'connected_gene': 'RAB10', 'score': 24.14}, {'connected_gene': 'RNU6-942P', 'score': 12.43}, {'connected_gene': 'KIF3C', 'score': 10.71}, {'connected_gene': 'GAREM2', 'score': 9.36}, {'connected_gene': 'HADHB', 'score': 5.74}, {'connected_gene': 'GC02P026059', 'score': 0.44}, {'connected_gene': 'LOC105374333', 'score': 0.34}, {'connected_gene': 'RPS2P15', 'score': 0.29}]
chr2 GH02I026105 26105690 26105943 0.22 [{'connected_gene': 'RAB10', 'score': 13.86}, {'connected_gene': 'RNU6-942P', 'score': 11.29}, {'connected_gene': 'KIF3C', 'score': 10.92}, {'connected_gene': 'GAREM2', 'score': 7.17}, {'connected_gene': 'RPS2P15', 'score': 0.77}, {'connected_gene': 'LOC391359', 'score': 0.28}, {'connected_gene': 'GC02P026059', 'score': 0.25}]
chr2 GH02I025991 25991172 25992396 1.41 [{'connected_gene': 'RAB10', 'score': 12.27}, {'connected_gene': 'RNU6-942P', 'score': 12.24}, {'connected_gene': 'DNMT3A', 'score': 12.13}, {'connected_gene': 'UQCRHP2', 'score': 0.77}, {'connected_gene': 'KIF3C', 'score': 0.44}, {'connected_gene': 'GC02M025991', 'score': 0.28}]
chr2 GH02I025997 25997401 25999000 1.73 [{'connected_gene': 'RAB10', 'score': 28.49}, {'connected_gene': 'RNU6-942P', 'score': 12.23}, {'connected_gene': 'DNMT3A', 'score': 12.13}, {'connected_gene': 'GAREM2', 'score': 4.89}, {'connected_gene': 'GC02P025994', 'score': 0.77}, {'connected_gene': 'TRMT112P6', 'score': 0.29}, {'connected_gene': 'GC02M025991', 'score': 0.29}]
chr2 GH02I026008 26007001 26007200 0.4 [{'connected_gene': 'RAB10', 'score': 12.23}, {'connected_gene': 'RNU6-942P', 'score': 12.19}, {'connected_gene': 'GAREM2', 'score': 4.48}, {'connected_gene': 'GC02P025994', 'score': 0.39}, {'connected_gene': 'TRMT112P6', 'score': 0.34}, {'connected_gene': 'GC02M025991', 'score': 0.34}]
chr2 GH02I026143 26143632 26145392 0.97 [{'connected_gene': 'RNU6-942P', 'score': 11.12}, {'connected_gene': 'KIF3C', 'score': 11.12}, {'connected_gene': 'RAB10', 'score': 11.11}, {'connected_gene': 'HADHB', 'score': 10.55}, {'connected_gene': 'HADHA', 'score': 10.54}, {'connected_gene': 'GAREM2', 'score': 8.05}, {'connected_gene': 'SMARCE1P6', 'score': 0.77}, {'connected_gene': 'LOC391359', 'score': 0.77}, {'connected_gene': 'GC02P026059', 'score': 0.17}]
chr2 GH02I026016 26016106 26017219 0.94 [{'connected_gene': 'RNU6-942P', 'score': 11.59}, {'connected_gene': 'KIF3C', 'score': 11.31}, {'connected_gene': 'RAB10', 'score': 5.9}, {'connected_gene': 'GAREM2', 'score': 4.48}, {'connected_gene': 'TRMT112P6', 'score': 0.39}, {'connected_gene': 'GC02M025991', 'score': 0.39}, {'connected_gene': 'GC02P025994', 'score': 0.34}]
chr2 GH02I026017 26017228 26019557 1.65 [{'connected_gene': 'RNU6-942P', 'score': 12.41}, {'connected_gene': 'KIF3C', 'score': 11.22}, {'connected_gene': 'RAB10', 'score': 8.63}, {'connected_gene': 'GAREM2', 'score': 7.51}, {'connected_gene': 'TRMT112P6', 'score': 0.39}, {'connected_gene': 'GC02M025991', 'score': 0.39}, {'connected_gene': 'GC02P025994', 'score': 0.34}]
chr2 GH02I026092 26092019 26093187 0.38 [{'connected_gene': 'RNU6-942P', 'score': 11.57}, {'connected_gene': 'RAB10', 'score': 11.55}, {'connected_gene': 'KIF3C', 'score': 11.03}, {'connected_gene': 'GAREM2', 'score': 7.25}, {'connected_gene': 'RPS2P15', 'score': 0.44}, {'connected_gene': 'GC02P026059', 'score': 0.29}, {'connected_gene': 'LOC105374333', 'score': 0.25}]
chr2 GH02I026086 26086030 26087061 1.09 [{'connected_gene': 'RNU6-942P', 'score': 11.96}, {'connected_gene': 'RAB10', 'score': 11.93}, {'connected_gene': 'KIF3C', 'score': 10.59}, {'connected_gene': 'GAREM2', 'score': 7.24}, {'connected_gene': 'RPS2P15', 'score': 0.37}, {'connected_gene': 'GC02P026059', 'score': 0.31}, {'connected_gene': 'LOC105374333', 'score': 0.26}]
chr2 GH02I026065 26065748 26066658 0.38 [{'connected_gene': 'RNU6-942P', 'score': 12.46}, {'connected_gene': 'RAB10', 'score': 12.41}, {'connected_gene': 'KIF3C', 'score': 10.18}, {'connected_gene': 'GC02P026059', 'score': 0.44}, {'connected_gene': 'LOC105374333', 'score': 0.37}, {'connected_gene': 'RPS2P15', 'score': 0.28}]
chr2 GH02I026063 26063796 26065587 0.72 [{'connected_gene': 'RNU6-942P', 'score': 12.4}, {'connected_gene': 'RAB10', 'score': 12.35}, {'connected_gene': 'GAREM2', 'score': 9.21}, {'connected_gene': 'GC02P026059', 'score': 0.44}, {'connected_gene': 'LOC105374333', 'score': 0.37}, {'connected_gene': 'RPS2P15', 'score': 0.28}]
chr2 GH02I025557 25557202 25559399 1.26 [{'connected_gene': 'LINC01381', 'score': 10.45}, {'connected_gene': 'RAB10', 'score': 2.98}, {'connected_gene': 'GC02P025491', 'score': 0.2}, {'connected_gene': 'GC02P025633', 'score': 0.18}, {'connected_gene': 'DTNB', 'score': 0.13}]
chr2 GH02I026049 26049536 26050647 0.38 [{'connected_gene': 'LOC105374333', 'score': 0.77}, {'connected_gene': 'GC02P026059', 'score': 0.44}, {'connected_gene': 'RAB10', 'score': 0.37}]
chr2 GH02I026083 26083973 26085411 0.52 [{'connected_gene': 'ENSG00000272148', 'score': 11.82}, {'connected_gene': 'GAREM2', 'score': 7.24}, {'connected_gene': 'RPS2P15', 'score': 0.37}, {'connected_gene': 'GC02P026059', 'score': 0.31}, {'connected_gene': 'LOC105374333', 'score': 0.28}, {'connected_gene': 'RAB10', 'score': 0.23}]
chr2 GH02I026058 26058243 26059549 0.77 [{'connected_gene': 'GC02P026059', 'score': 550.77}, {'connected_gene': 'RAB10', 'score': 12.47}, {'connected_gene': 'GAREM2', 'score': 8.32}, {'connected_gene': 'LOC105374333', 'score': 0.39}]
chr2 GH02I026041 26041563 26042668 0.38 [{'connected_gene': 'GC02P026043', 'score': 550.77}, {'connected_gene': 'RNU6-942P', 'score': 550.77}, {'connected_gene': 'KIF3C', 'score': 11.36}, {'connected_gene': 'GAREM2', 'score': 6.96}, {'connected_gene': 'RAB10', 'score': 0.44}]
chr2 GH02I026043 26043667 26045037 1.22 [{'connected_gene': 'GC02P026043', 'score': 550.77}, {'connected_gene': 'RNU6-942P', 'score': 550.77}, {'connected_gene': 'LOC105374333', 'score': 550.77}, {'connected_gene': 'GAREM2', 'score': 7.2}, {'connected_gene': 'RAB10', 'score': 0.39}]
chr2 GH02I026044 26043201 26043600 0.58 [{'connected_gene': 'GC02P026043', 'score': 550.77}, {'connected_gene': 'RNU6-942P', 'score': 550.77}, {'connected_gene': 'LOC105374333', 'score': 0.77}, {'connected_gene': 'RAB10', 'score': 0.44}]
chr2 GH02I026080 26080512 26080661 1.06 [{'connected_gene': 'GC02P026059', 'score': 0.34}, {'connected_gene': 'RPS2P15', 'score': 0.34}, {'connected_gene': 'LOC105374333', 'score': 0.29}, {'connected_gene': 'RAB10', 'score': 0.25}]
chr2 GH02I026076 26076332 26076411 0.63 [{'connected_gene': 'GC02P026059', 'score': 0.37}, {'connected_gene': 'RPS2P15', 'score': 0.31}, {'connected_gene': 'LOC105374333', 'score': 0.29}, {'connected_gene': 'RAB10', 'score': 0.26}]
chr2 GH02I026073 26073482 26074177 1.07 [{'connected_gene': 'GC02P026059', 'score': 0.39}, {'connected_gene': 'RPS2P15', 'score': 0.31}, {'connected_gene': 'LOC105374333', 'score': 0.31}, {'connected_gene': 'RAB10', 'score': 0.28}]