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
ENST00000529290 [[64833771, 64834151], [64834284, 64834351], [64835126, 64835225], [64835498, 64835590], [64835959, 64836073], [64846824, 64846861]] [[64833797, 64834151], [64834284, 64834351], [64835126, 64835225], [64835498, 64835590], [64835959, 64836073], [64846824, 64846861]]
ENST00000525464 [[64833836, 64833945], [64834023, 64834151], [64834284, 64834351], [64835126, 64835225], [64835498, 64835590], [64835959, 64836073], [64846824, 64846887]] [[64833836, 64833945], [64834023, 64834151], [64834284, 64834351], [64835126, 64835225], [64835498, 64835590], [64835959, 64836073], [64846824, 64846887]]
ENST00000438878 [[64834080, 64834151], [64834284, 64834351], [64835126, 64835205]] [[64834082, 64834151], [64834284, 64834351], [64835126, 64835203]]
ENST00000533015 [[64835515, 64835590], [64835959, 64836073], [64850835, 64850871], [64850956, 64851022], [64851100, 64851372]] None
ENST00000275517 [[64844923, 64846659], [64846824, 64847259], [64850835, 64850871], [64850956, 64851022], [64851100, 64851195], [64851404, 64851623]] [[64846578, 64846659], [64846824, 64847259], [64850835, 64850871], [64850956, 64851022], [64851100, 64851195], [64851404, 64851450]]
ENST00000524733 [[64846104, 64846659], [64846824, 64847021], [64850835, 64850871], [64850956, 64851003]] [[64846892, 64847021], [64850835, 64850871], [64850956, 64851003]]
ENST00000404147 [[64846559, 64847259], [64850835, 64850871], [64850956, 64851022], [64851100, 64851195], [64851404, 64851519]] [[64846578, 64847259], [64850835, 64850871], [64850956, 64851022], [64851100, 64851195], [64851404, 64851450]]
ENST00000479032 [[64846603, 64846659], [64846824, 64847259], [64850835, 64850871], [64850956, 64851022], [64851100, 64851511]] None
ENST00000531401 [[64846612, 64846659], [64846824, 64847259], [64850835, 64851022], [64851100, 64851195], [64851542, 64851636]] None
ENST00000527430 [[64846637, 64846659], [64846824, 64847259], [64850835, 64850871], [64850956, 64851022], [64851100, 64851188], [64851404, 64851449]] [[64850982, 64851022], [64851100, 64851188], [64851404, 64851449]]
ENST00000462902 [[64850721, 64851022], [64851100, 64851368]] None
NM_080668 [[64844926, 64846659], [64846824, 64847259], [64850835, 64850871], [64850956, 64851022], [64851100, 64851195], [64851404, 64851615]] [[64846578, 64846659], [64846824, 64847259], [64850835, 64850871], [64850956, 64851022], [64851100, 64851195], [64851404, 64851450]]
Promoter
Chrom Start End Description
chr11 64851367 64851377 CAGE_peak_6_at_CDCA5_5end
chr11 64851378 64851381 CAGE_peak_8_at_CDCA5_5end
chr11 64851496 64851577 CAGE_peak_1_at_CDCA5_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I065081 65081429 65081578 0.43 [{'connected_gene': 'SYVN1', 'score': 7.51}, {'connected_gene': 'PIR38481', 'score': 0.77}, {'connected_gene': 'GC11M065079', 'score': 0.77}, {'connected_gene': 'CDCA5', 'score': 0.77}]
chr11 GH11I065082 65082795 65085540 2.06 [{'connected_gene': 'ZFPL1', 'score': 562.82}, {'connected_gene': 'CDCA5', 'score': 550.77}, {'connected_gene': 'SF1', 'score': 22.03}, {'connected_gene': 'PCNX3', 'score': 19.87}, {'connected_gene': 'SNX15', 'score': 16.42}, {'connected_gene': 'POLA2', 'score': 15.81}, {'connected_gene': 'EIF1AD', 'score': 15.27}, {'connected_gene': 'MUS81', 'score': 15.17}, {'connected_gene': 'SART1', 'score': 14.39}, {'connected_gene': 'RELA', 'score': 13.48}, {'connected_gene': 'PLCB3', 'score': 12.32}, {'connected_gene': 'KAT5', 'score': 12.25}, {'connected_gene': 'NAALADL1', 'score': 12.22}, {'connected_gene': 'SCYL1', 'score': 12.11}, {'connected_gene': 'ATG2A', 'score': 11.15}, {'connected_gene': 'FRMD8', 'score': 10.05}, {'connected_gene': 'SF3B2', 'score': 9.69}, {'connected_gene': 'SAC3D1', 'score': 9.39}, {'connected_gene': 'SYVN1', 'score': 7.53}, {'connected_gene': 'TMEM262', 'score': 0.44}]
chr11 GH11I065210 65210517 65211143 0.72 [{'connected_gene': 'LOC728975', 'score': 11.86}, {'connected_gene': 'PGAM1P8', 'score': 11.84}, {'connected_gene': 'CAPN1', 'score': 11.84}, {'connected_gene': 'POLA2', 'score': 11.27}, {'connected_gene': 'ZFPL1', 'score': 11.06}, {'connected_gene': 'CDCA5', 'score': 11.06}, {'connected_gene': 'VPS51', 'score': 11.06}, {'connected_gene': 'SLC22A20P', 'score': 0.77}]
chr11 GH11I065216 65216851 65217736 0.38 [{'connected_gene': 'LOC728975', 'score': 21.63}, {'connected_gene': 'POLA2', 'score': 11.91}, {'connected_gene': 'CAPN1', 'score': 11.74}, {'connected_gene': 'PGAM1P8', 'score': 11.72}, {'connected_gene': 'CDC42EP2', 'score': 11.27}, {'connected_gene': 'SPDYC', 'score': 11.12}, {'connected_gene': 'ZNHIT2', 'score': 10.94}, {'connected_gene': 'ENSG00000255173', 'score': 10.93}, {'connected_gene': 'RNU2-23P', 'score': 10.87}, {'connected_gene': 'HIGD1AP10', 'score': 10.86}, {'connected_gene': 'CDCA5', 'score': 10.7}, {'connected_gene': 'ZFPL1', 'score': 10.7}, {'connected_gene': 'DPF2', 'score': 10.62}, {'connected_gene': 'ENSG00000254501', 'score': 10.58}, {'connected_gene': 'TM7SF2', 'score': 10.58}, {'connected_gene': 'VPS51', 'score': 10.56}, {'connected_gene': 'SLC22A20P', 'score': 0.77}]
chr11 GH11I065211 65211477 65214460 1.03 [{'connected_gene': 'SLC22A20P', 'score': 550.77}, {'connected_gene': 'LOC728975', 'score': 57.11}, {'connected_gene': 'POLA2', 'score': 21.33}, {'connected_gene': 'CAPN1', 'score': 16.35}, {'connected_gene': 'PGAM1P8', 'score': 11.82}, {'connected_gene': 'CDC42EP2', 'score': 11.27}, {'connected_gene': 'SPDYC', 'score': 11.14}, {'connected_gene': 'CDCA5', 'score': 11.06}, {'connected_gene': 'ZFPL1', 'score': 11.06}, {'connected_gene': 'VPS51', 'score': 11.06}, {'connected_gene': 'HIGD1AP10', 'score': 11.01}, {'connected_gene': 'RNU2-23P', 'score': 11.01}, {'connected_gene': 'ENSG00000255173', 'score': 10.94}, {'connected_gene': 'ZNHIT2', 'score': 10.94}, {'connected_gene': 'ENSG00000254501', 'score': 10.67}, {'connected_gene': 'TM7SF2', 'score': 10.67}, {'connected_gene': 'DPF2', 'score': 10.62}]
chr11 GH11I065215 65215401 65215679 1.06 [{'connected_gene': 'SLC22A20P', 'score': 550.77}, {'connected_gene': 'POLA2', 'score': 11.89}, {'connected_gene': 'LOC728975', 'score': 11.76}, {'connected_gene': 'CAPN1', 'score': 11.76}, {'connected_gene': 'PGAM1P8', 'score': 11.74}, {'connected_gene': 'CDC42EP2', 'score': 11.27}, {'connected_gene': 'SPDYC', 'score': 11.12}, {'connected_gene': 'ENSG00000255173', 'score': 10.94}, {'connected_gene': 'ZNHIT2', 'score': 10.94}, {'connected_gene': 'HIGD1AP10', 'score': 10.87}, {'connected_gene': 'RNU2-23P', 'score': 10.87}, {'connected_gene': 'CDCA5', 'score': 10.7}, {'connected_gene': 'ZFPL1', 'score': 10.7}, {'connected_gene': 'DPF2', 'score': 10.62}, {'connected_gene': 'ENSG00000254501', 'score': 10.58}, {'connected_gene': 'TM7SF2', 'score': 10.58}, {'connected_gene': 'VPS51', 'score': 10.56}]
chr11 GH11I065065 65065979 65068270 0.87 [{'connected_gene': 'SNX15', 'score': 28.3}, {'connected_gene': 'ARL2', 'score': 11.84}, {'connected_gene': 'VPS51', 'score': 11.57}, {'connected_gene': 'ENSG00000254501', 'score': 11.49}, {'connected_gene': 'TM7SF2', 'score': 11.49}, {'connected_gene': 'CDC42BPG', 'score': 10.68}, {'connected_gene': 'MAJIN', 'score': 10.25}, {'connected_gene': 'EHD1', 'score': 9.55}, {'connected_gene': 'MEN1', 'score': 4.79}, {'connected_gene': 'LOC728975', 'score': 4.57}, {'connected_gene': 'GC11M065053', 'score': 0.44}, {'connected_gene': 'PIR38481', 'score': 0.39}, {'connected_gene': 'GC11M065079', 'score': 0.39}, {'connected_gene': 'CDCA5', 'score': 0.37}]
chr11 GH11I065069 65069181 65069952 0.74 [{'connected_gene': 'SNX15', 'score': 21.73}, {'connected_gene': 'ARL2', 'score': 11.83}, {'connected_gene': 'ENSG00000254501', 'score': 11.49}, {'connected_gene': 'TM7SF2', 'score': 11.49}, {'connected_gene': 'CDC42BPG', 'score': 10.68}, {'connected_gene': 'MAJIN', 'score': 10.25}, {'connected_gene': 'EHD1', 'score': 9.55}, {'connected_gene': 'PIR38481', 'score': 0.44}, {'connected_gene': 'GC11M065079', 'score': 0.44}, {'connected_gene': 'GC11M065053', 'score': 0.44}, {'connected_gene': 'CDCA5', 'score': 0.39}]
chr11 GH11I065047 65047298 65048393 0.7 [{'connected_gene': 'SNX15', 'score': 20.12}, {'connected_gene': 'CDCA5', 'score': 12.65}, {'connected_gene': 'ZFPL1', 'score': 12.65}, {'connected_gene': 'VPS51', 'score': 11.79}, {'connected_gene': 'ENSG00000254501', 'score': 10.99}, {'connected_gene': 'TM7SF2', 'score': 10.99}, {'connected_gene': 'MAJIN', 'score': 10.79}, {'connected_gene': 'GC11P065048', 'score': 0.77}, {'connected_gene': 'GC11P065050', 'score': 0.77}, {'connected_gene': 'GC11M065049', 'score': 0.77}, {'connected_gene': 'NAALADL1', 'score': 0.39}]
chr11 GH11I065219 65219679 65220449 0.59 [{'connected_gene': 'POLA2', 'score': 11.91}, {'connected_gene': 'LOC728975', 'score': 11.74}, {'connected_gene': 'CAPN1', 'score': 11.74}, {'connected_gene': 'PGAM1P8', 'score': 11.72}, {'connected_gene': 'CDC42EP2', 'score': 11.28}, {'connected_gene': 'SPDYC', 'score': 11.11}, {'connected_gene': 'ENSG00000255173', 'score': 10.93}, {'connected_gene': 'ZNHIT2', 'score': 10.93}, {'connected_gene': 'HIGD1AP10', 'score': 10.86}, {'connected_gene': 'RNU2-23P', 'score': 10.86}, {'connected_gene': 'CDCA5', 'score': 10.7}, {'connected_gene': 'ZFPL1', 'score': 10.7}, {'connected_gene': 'DPF2', 'score': 10.63}, {'connected_gene': 'ENSG00000254501', 'score': 10.58}, {'connected_gene': 'TM7SF2', 'score': 10.58}, {'connected_gene': 'VPS51', 'score': 10.55}, {'connected_gene': 'SLC22A20P', 'score': 8.41}]
chr11 GH11I065077 65077769 65079349 0.73 [{'connected_gene': 'PIR38481', 'score': 550.77}, {'connected_gene': 'GC11M065079', 'score': 550.77}, {'connected_gene': 'SNX15', 'score': 16.65}, {'connected_gene': 'LOC728975', 'score': 4.58}, {'connected_gene': 'SLC22A20P', 'score': 4.48}, {'connected_gene': 'CDCA5', 'score': 0.44}]