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
ENST00000375173 [[100362361, 100365437]] None
ENST00000375172 [[100362362, 100363402], [100364999, 100365049], [100367008, 100367147], [100367764, 100367923], [100368424, 100368543], [100372627, 100372733], [100373855, 100373981], [100380038, 100380159], [100387962, 100388279], [100389587, 100389894], [100395524, 100395583]] [[100389664, 100389844]]
ENST00000341170 [[100362364, 100365049], [100367008, 100367147], [100367764, 100367923], [100368424, 100368543], [100372627, 100372733], [100373855, 100373981], [100380038, 100380159], [100387962, 100388279], [100389679, 100389894], [100395524, 100395857]] [[100364750, 100365049], [100367008, 100367147], [100367764, 100367923], [100368424, 100368543], [100372627, 100372733], [100373855, 100373981], [100380038, 100380159], [100387962, 100388279], [100389679, 100389844]]
ENST00000375165 [[100366350, 100367147], [100367764, 100367923], [100368424, 100368543], [100380038, 100380159], [100387962, 100388279], [100389587, 100389686]] [[100389664, 100389686]]
ENST00000354801 [[100366976, 100367147], [100367764, 100367923], [100368424, 100368543], [100380038, 100380159], [100387962, 100388279], [100389679, 100389894], [100395524, 100395962]] [[100366976, 100367147], [100367764, 100367923], [100368424, 100368543], [100380038, 100380093]]
ENST00000375163 [[100372491, 100372733], [100373855, 100373981], [100380038, 100380159], [100387962, 100388057]] None
ENST00000484708 [[100373126, 100373404], [100373855, 100373981], [100380038, 100380134]] None
NM_139246 [[100362361, 100365049], [100367008, 100367147], [100367764, 100367923], [100368424, 100368543], [100372627, 100372733], [100373855, 100373981], [100380038, 100380159], [100387962, 100388279], [100389679, 100389894], [100395524, 100395962]] [[100364750, 100365049], [100367008, 100367147], [100367764, 100367923], [100368424, 100368543], [100372627, 100372733], [100373855, 100373981], [100380038, 100380159], [100387962, 100388279], [100389679, 100389844]]
Promoter
Chrom Start End Description
chr9 100395560 100395571 CAGE_peak_4_at_TSTD2_5end
chr9 100395590 100395614 CAGE_peak_2_at_TSTD2_5end
chr9 100395625 100395682 CAGE_peak_1_at_TSTD2_5end
chr9 100395756 100395784 CAGE_peak_5_at_TSTD2_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr9 GH09I098070 98070871 98076600 1.29 [{'connected_gene': 'TRIM14', 'score': 20.43}, {'connected_gene': 'TBC1D2', 'score': 11.89}, {'connected_gene': 'RNU6-918P', 'score': 11.46}, {'connected_gene': 'CORO2A', 'score': 11.43}, {'connected_gene': 'TSTD2', 'score': 10.7}, {'connected_gene': 'HEMGN', 'score': 10.56}, {'connected_gene': 'NANS', 'score': 9.03}, {'connected_gene': 'PIR35853', 'score': 0.39}, {'connected_gene': 'GC09M098254', 'score': 0.39}, {'connected_gene': 'GC09M098251', 'score': 0.39}]
chr9 GH09I098117 98117444 98123006 2.54 [{'connected_gene': 'TRIM14', 'score': 559.71}, {'connected_gene': 'NCBP1', 'score': 56.4}, {'connected_gene': 'ZNF322P1', 'score': 38.92}, {'connected_gene': 'TSTD2', 'score': 38.4}, {'connected_gene': 'ENSG00000254633', 'score': 26.39}, {'connected_gene': 'CORO2A', 'score': 22.74}, {'connected_gene': 'ANKS6', 'score': 21.53}, {'connected_gene': 'CCDC180', 'score': 18.62}, {'connected_gene': 'LOC105376171', 'score': 12.1}, {'connected_gene': 'XPA', 'score': 11.9}, {'connected_gene': 'TBC1D2', 'score': 10.26}, {'connected_gene': 'TRMO', 'score': 5.09}, {'connected_gene': 'FOXE1', 'score': 5.03}, {'connected_gene': 'HEMGN', 'score': 1.26}, {'connected_gene': 'PIR36587', 'score': 0.39}]
chr9 GH09I097404 97404407 97407730 1.13 [{'connected_gene': 'MFSD14C', 'score': 12.16}, {'connected_gene': 'LOC441454', 'score': 11.37}, {'connected_gene': 'TSTD2', 'score': 10.74}, {'connected_gene': 'ENSG00000203279', 'score': 5.71}, {'connected_gene': 'FAM220CP', 'score': 5.67}, {'connected_gene': 'VN1R51P', 'score': 3.99}, {'connected_gene': 'LOC286359', 'score': 0.44}, {'connected_gene': 'TDRD7', 'score': 0.44}, {'connected_gene': 'LOC105376167', 'score': 0.44}]
chr9 GH09I097695 97695783 97698568 2 [{'connected_gene': 'XPA', 'score': 561.88}, {'connected_gene': 'KRT18P13', 'score': 559.49}, {'connected_gene': 'ZNF322P1', 'score': 16.08}, {'connected_gene': 'ZNF510', 'score': 14.66}, {'connected_gene': 'NCBP1', 'score': 11.36}, {'connected_gene': 'CCDC180', 'score': 11.04}, {'connected_gene': 'ZNF782', 'score': 9.67}, {'connected_gene': 'TSTD2', 'score': 8.34}, {'connected_gene': 'GC09M097677', 'score': 0.37}]
chr9 GH09I098162 98162319 98165617 0.72 [{'connected_gene': 'CORO2A', 'score': 18.79}, {'connected_gene': 'TBC1D2', 'score': 18.27}, {'connected_gene': 'XPA', 'score': 13.96}, {'connected_gene': 'ZNF322P1', 'score': 12.9}, {'connected_gene': 'TRIM14', 'score': 11.9}, {'connected_gene': 'TSTD2', 'score': 11.72}, {'connected_gene': 'PIR60537', 'score': 0.31}]
chr9 GH09I097703 97703092 97705077 1.06 [{'connected_gene': 'TMOD1', 'score': 10.7}, {'connected_gene': 'FOXE1', 'score': 10.58}, {'connected_gene': 'KRT18P13', 'score': 9.31}, {'connected_gene': 'TRMO', 'score': 7.24}, {'connected_gene': 'TSTD2', 'score': 6.78}, {'connected_gene': 'ENSG00000260677', 'score': 0.28}]
chr9 GH09I098034 98034491 98038000 1.01 [{'connected_gene': 'NANS', 'score': 24.64}, {'connected_gene': 'TRMO', 'score': 17.67}, {'connected_gene': 'ENSG00000236896', 'score': 12.07}, {'connected_gene': 'ANP32B', 'score': 12.06}, {'connected_gene': 'ENSG00000201830', 'score': 11.87}, {'connected_gene': 'TBC1D2', 'score': 10.52}, {'connected_gene': 'TSTD2', 'score': 4.6}, {'connected_gene': 'RNU6-918P', 'score': 0.77}]
chr9 GH09I098055 98055850 98058322 2.22 [{'connected_gene': 'NANS', 'score': 559.6}, {'connected_gene': 'NCBP1', 'score': 14.35}, {'connected_gene': 'TSTD2', 'score': 12.89}, {'connected_gene': 'TRIM14', 'score': 7.01}, {'connected_gene': 'GC09M098254', 'score': 0.31}, {'connected_gene': 'GC09M098251', 'score': 0.31}, {'connected_gene': 'PIR35853', 'score': 0.31}]
chr9 GH09I097918 97918311 97924164 2.6 [{'connected_gene': 'TRMO', 'score': 591.45}, {'connected_gene': 'NCBP1', 'score': 52.35}, {'connected_gene': 'TSTD2', 'score': 39.53}, {'connected_gene': 'ZNF322P1', 'score': 24.45}, {'connected_gene': 'NUTM2G', 'score': 23.16}, {'connected_gene': 'MFSD14C', 'score': 22.18}, {'connected_gene': 'ZNF782', 'score': 21.82}, {'connected_gene': 'ANP32B', 'score': 12.67}, {'connected_gene': 'ENSG00000236896', 'score': 12.67}, {'connected_gene': 'HEMGN', 'score': 12.64}, {'connected_gene': 'RNU6-918P', 'score': 12.0}, {'connected_gene': 'ENSG00000254633', 'score': 12.0}, {'connected_gene': 'XPA', 'score': 11.72}, {'connected_gene': 'TRIM14', 'score': 1.76}, {'connected_gene': 'ENSG00000201830', 'score': 0.44}]
chr9 GH09I097631 97631431 97635396 2.29 [{'connected_gene': 'NCBP1', 'score': 582.53}, {'connected_gene': 'TSTD2', 'score': 567.37}, {'connected_gene': 'MFSD14C', 'score': 22.19}, {'connected_gene': 'ZNF782', 'score': 21.82}, {'connected_gene': 'NUTM2G', 'score': 20.22}, {'connected_gene': 'ZNF322P1', 'score': 13.57}, {'connected_gene': 'ENSG00000224848', 'score': 12.63}, {'connected_gene': 'ZNF510', 'score': 12.18}, {'connected_gene': 'ENSG00000254633', 'score': 12.02}, {'connected_gene': 'XPA', 'score': 10.96}, {'connected_gene': 'LOC105376171', 'score': 10.79}, {'connected_gene': 'TDRD7', 'score': 10.74}, {'connected_gene': 'LOC441454', 'score': 10.57}, {'connected_gene': 'TMOD1', 'score': 9.21}, {'connected_gene': 'PIR37261', 'score': 0.31}, {'connected_gene': 'GC09P097607', 'score': 0.31}]
chr9 GH09I097597 97597891 97600068 0.97 [{'connected_gene': 'KRT18P13', 'score': 9.08}, {'connected_gene': 'TSTD2', 'score': 7.33}, {'connected_gene': 'PIR41890', 'score': 0.77}, {'connected_gene': 'PIR34153', 'score': 0.44}, {'connected_gene': 'TMOD1', 'score': 0.15}]
chr9 GH09I097710 97710319 97711448 0.7 [{'connected_gene': 'KRT18P13', 'score': 11.15}, {'connected_gene': 'TSTD2', 'score': 8.56}, {'connected_gene': 'ENSG00000260677', 'score': 0.29}, {'connected_gene': 'PTCSC2', 'score': 0.11}]
chr9 GH09I096853 96853259 96855168 1.49 [{'connected_gene': 'ERCC6L2', 'score': 18.89}, {'connected_gene': 'EIF4BP3', 'score': 11.96}, {'connected_gene': 'TSTD2', 'score': 10.26}, {'connected_gene': 'NUTM2G', 'score': 6.35}, {'connected_gene': 'LOC100132781', 'score': 0.39}, {'connected_gene': 'ZNF510', 'score': 0.18}, {'connected_gene': 'ZNF782', 'score': 0.1}]
chr9 GH09I097615 97615599 97615768 0.62 [{'connected_gene': 'TDRD7', 'score': 11.2}, {'connected_gene': 'LOC105376168', 'score': 10.95}, {'connected_gene': 'PIR37261', 'score': 0.44}, {'connected_gene': 'GC09P097607', 'score': 0.44}, {'connected_gene': 'TSTD2', 'score': 0.37}, {'connected_gene': 'NCBP1', 'score': 0.37}]
chr9 GH09I097757 97757887 97762132 0.86 [{'connected_gene': 'FOXE1', 'score': 10.19}, {'connected_gene': 'TRMO', 'score': 9.03}, {'connected_gene': 'KRT18P13', 'score': 5.48}, {'connected_gene': 'TSTD2', 'score': 4.17}, {'connected_gene': 'ENSG00000260677', 'score': 0.37}, {'connected_gene': 'PTCSC2', 'score': 0.16}]
chr9 GH09I097692 97692411 97692571 0.33 [{'connected_gene': 'FOXE1', 'score': 9.99}, {'connected_gene': 'TSTD2', 'score': 2.44}, {'connected_gene': 'XPA', 'score': 1.92}, {'connected_gene': 'GC09M097677', 'score': 0.39}]
chr9 GH09I097747 97747158 97748540 0.2 [{'connected_gene': 'FOXE1', 'score': 10.6}, {'connected_gene': 'TSTD2', 'score': 4.34}, {'connected_gene': 'ENSG00000260677', 'score': 0.77}, {'connected_gene': 'PTCSC2', 'score': 0.14}]
chr9 GH09I097750 97750048 97752847 0.46 [{'connected_gene': 'FOXE1', 'score': 10.7}, {'connected_gene': 'TSTD2', 'score': 4.24}, {'connected_gene': 'ENSG00000260677', 'score': 0.44}, {'connected_gene': 'PTCSC2', 'score': 0.15}]
chr9 GH09I097510 97510253 97512303 1.34 [{'connected_gene': 'ZNF510', 'score': 39.12}, {'connected_gene': 'ENSG00000224848', 'score': 34.09}, {'connected_gene': 'ZNF322P1', 'score': 32.05}, {'connected_gene': 'NCBP1', 'score': 31.36}, {'connected_gene': 'XPA', 'score': 28.62}, {'connected_gene': 'TSTD2', 'score': 26.74}, {'connected_gene': 'LOC105376168', 'score': 23.41}, {'connected_gene': 'LOC105376171', 'score': 19.05}, {'connected_gene': 'ZNF782', 'score': 14.1}, {'connected_gene': 'LOC441455', 'score': 11.82}, {'connected_gene': 'CCDC180', 'score': 10.66}, {'connected_gene': 'LOC441454', 'score': 10.58}, {'connected_gene': 'TMOD1', 'score': 0.39}]
chr9 GH09I097979 97979663 97987948 2.52 [{'connected_gene': 'ANP32B', 'score': 550.77}, {'connected_gene': 'NANS', 'score': 26.5}, {'connected_gene': 'NCBP1', 'score': 23.23}, {'connected_gene': 'MFSD14C', 'score': 22.18}, {'connected_gene': 'ZNF782', 'score': 21.82}, {'connected_gene': 'TSTD2', 'score': 16.66}, {'connected_gene': 'ZNF322P1', 'score': 13.55}, {'connected_gene': 'ENSG00000254633', 'score': 12.0}, {'connected_gene': 'XPA', 'score': 10.81}, {'connected_gene': 'TRMO', 'score': 6.22}, {'connected_gene': 'TRIM14', 'score': 4.69}, {'connected_gene': 'ENSG00000236896', 'score': 0.77}]
chr9 GH09I098221 98221005 98235773 1.72 [{'connected_gene': 'MIR6854', 'score': 550.77}, {'connected_gene': 'TBC1D2', 'score': 45.45}, {'connected_gene': 'CORO2A', 'score': 17.67}, {'connected_gene': 'NCBP1', 'score': 14.33}, {'connected_gene': 'TSTD2', 'score': 12.87}, {'connected_gene': 'TRIM14', 'score': 10.78}, {'connected_gene': 'ENSG00000236896', 'score': 10.71}, {'connected_gene': 'LOC100131625', 'score': 0.44}]
chr9 GH09I097856 97853515 97853574 0.82 [{'connected_gene': 'PTCSC2', 'score': 550.77}, {'connected_gene': 'FOXE1', 'score': 550.77}, {'connected_gene': 'ZNF782', 'score': 18.98}, {'connected_gene': 'NCBP1', 'score': 18.01}, {'connected_gene': 'LOC441454', 'score': 13.44}, {'connected_gene': 'TSTD2', 'score': 12.86}, {'connected_gene': 'MFSD14C', 'score': 12.05}, {'connected_gene': 'ZNF322P1', 'score': 10.46}, {'connected_gene': 'GC09P097870', 'score': 0.37}]
chr9 GH09I097600 97600656 97602520 0.2 [{'connected_gene': 'PIR46089', 'score': 550.77}, {'connected_gene': 'PIR42915', 'score': 550.77}, {'connected_gene': 'PIR34918', 'score': 550.77}, {'connected_gene': 'GC09M097606', 'score': 550.77}, {'connected_gene': 'PIR41890', 'score': 550.77}, {'connected_gene': 'GAS2L1P2', 'score': 4.08}, {'connected_gene': 'TSTD2', 'score': 0.29}, {'connected_gene': 'TMOD1', 'score': 0.15}]
chr9 GH09I097670 97670481 97670807 0.22 [{'connected_gene': 'PIR56620', 'score': 550.77}, {'connected_gene': 'PIR42148', 'score': 550.77}, {'connected_gene': 'TSTD2', 'score': 1.81}, {'connected_gene': 'XPA', 'score': 1.73}, {'connected_gene': 'LOC105376171', 'score': 0.29}, {'connected_gene': 'NCBP1', 'score': 0.28}]
chr9 GH09I097988 97988841 97989409 0.38 [{'connected_gene': 'ENSG00000236896', 'score': 550.77}, {'connected_gene': 'TSTD2', 'score': 5.04}, {'connected_gene': 'ANP32B', 'score': 0.44}, {'connected_gene': 'GC09P098033', 'score': 0.26}]
chr9 GH09I097231 97231950 97233090 0.95 [{'connected_gene': 'ENSG00000235494', 'score': 558.53}, {'connected_gene': 'VN1R51P', 'score': 32.68}, {'connected_gene': 'CCDC180', 'score': 26.45}, {'connected_gene': 'TSTD2', 'score': 16.65}, {'connected_gene': 'ZNF322P1', 'score': 13.82}, {'connected_gene': 'ZNF782', 'score': 13.74}, {'connected_gene': 'NCBP1', 'score': 12.67}, {'connected_gene': 'ENSG00000254633', 'score': 12.23}, {'connected_gene': 'MFSD14C', 'score': 10.96}, {'connected_gene': 'XPA', 'score': 10.79}, {'connected_gene': 'LOC441454', 'score': 10.6}, {'connected_gene': 'LOC100421693', 'score': 9.96}, {'connected_gene': 'GAS2L1P2', 'score': 4.14}, {'connected_gene': 'ENSG00000203279', 'score': 0.44}, {'connected_gene': 'ANKRD18CP', 'score': 0.39}]