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
ENST00000267484 [[60062694, 60063505], [60069782, 60069841], [60069929, 60069976], [60070569, 60070639], [60072085, 60072224], [60074002, 60074210], [60193636, 60194386], [60212425, 60213199], [60337107, 60337684]] [[60063462, 60063505], [60069782, 60069841], [60069929, 60069976], [60070569, 60070639], [60072085, 60072224], [60074002, 60074210], [60193636, 60194386], [60212425, 60213199], [60337107, 60337348]]
ENST00000432103 [[60062722, 60063505], [60069782, 60069841], [60069929, 60069976], [60070569, 60070639], [60072085, 60072224], [60074002, 60074210], [60193636, 60194431]] None
ENST00000481205 [[60062693, 60063505], [60069782, 60069841], [60069929, 60069976], [60070569, 60072820]] None
ENST00000395090 [[60062694, 60063505], [60069782, 60069841], [60069929, 60069976], [60070569, 60070639], [60072085, 60072224], [60074002, 60074210], [60076839, 60076950], [60097163, 60097327]] [[60063462, 60063505], [60069782, 60069841], [60069929, 60069976], [60070569, 60070639], [60072085, 60072224], [60074002, 60074210], [60076839, 60076855]]
ENST00000342503 [[60062694, 60063505], [60069782, 60069841], [60069929, 60069976], [60070569, 60070639], [60072085, 60072224], [60074002, 60074210], [60097163, 60097532]] [[60063462, 60063505], [60069782, 60069841], [60069929, 60069976], [60070569, 60070639], [60072085, 60072224], [60074002, 60074210], [60097163, 60097224]]
ENST00000474911 [[60062731, 60063505], [60069782, 60069841], [60069929, 60069976], [60070569, 60070639], [60072085, 60072224], [60074002, 60074325]] None
ENST00000557422 [[60063474, 60063505], [60069782, 60069841], [60069929, 60069976], [60070569, 60070639], [60074002, 60074210], [60097163, 60097330]] None
ENST00000490111 [[60070478, 60070639], [60072085, 60072227]] None
NM_021136 [[60062693, 60063505], [60069782, 60069841], [60069929, 60069976], [60070569, 60070639], [60072085, 60072224], [60074002, 60074210], [60193636, 60194386], [60212425, 60213199], [60337107, 60337557]] [[60063462, 60063505], [60069782, 60069841], [60069929, 60069976], [60070569, 60070639], [60072085, 60072224], [60074002, 60074210], [60193636, 60194386], [60212425, 60213199], [60337107, 60337348]]
NM_206852 [[60062693, 60063505], [60069782, 60069841], [60069929, 60069976], [60070569, 60070639], [60072085, 60072224], [60074002, 60074210], [60097163, 60097532]] [[60063462, 60063505], [60069782, 60069841], [60069929, 60069976], [60070569, 60070639], [60072085, 60072224], [60074002, 60074210], [60097163, 60097224]]
Promoter
Chrom Start End Description
chr14 60072110 60072126 CAGE_peak_13_at_RTN1_5end
chr14 60074147 60074162 CAGE_peak_12_at_RTN1_5end
chr14 60097278 60097282 CAGE_peak_6_at_RTN1_5end
chr14 60097297 60097403 CAGE_peak_1_at_RTN1_5end
chr14 60097477 60097510 CAGE_peak_4_at_RTN1_5end
chr14 60097524 60097538 CAGE_peak_3_at_RTN1_5end
chr14 60097553 60097561 CAGE_peak_7_at_RTN1_5end
chr14 60194043 60194066 CAGE_peak_18_at_RTN1_5end
chr14 60194070 60194083 CAGE_peak_25_at_RTN1_5end
chr14 60194267 60194275 CAGE_peak_20_at_RTN1_5end
chr14 60194285 60194311 CAGE_peak_10_at_RTN1_5end
chr14 60194318 60194325 CAGE_peak_22_at_RTN1_5end
chr14 60194331 60194336 CAGE_peak_36_at_RTN1_5end
chr14 60194347 60194365 CAGE_peak_17_at_RTN1_5end
chr14 60194368 60194387 CAGE_peak_11_at_RTN1_5end
chr14 60194446 60194457 CAGE_peak_16_at_RTN1_5end
chr14 60194459 60194462 CAGE_peak_43_at_RTN1_5end
chr14 60337436 60337454 CAGE_peak_5_at_RTN1_5end
chr14 60337478 60337544 CAGE_peak_2_at_RTN1_5end
chr14 60337821 60337834 CAGE_peak_9_at_RTN1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr14 GH14I059849 59849001 59850400 0.71 [{'connected_gene': 'CCDC175', 'score': 6.87}, {'connected_gene': 'RTN1', 'score': 1.87}, {'connected_gene': 'GC14P059856', 'score': 0.44}, {'connected_gene': 'GC14P059777', 'score': 0.19}]
chr14 GH14I059575 59575752 59577352 1.84 [{'connected_gene': 'CCDC175', 'score': 557.31}, {'connected_gene': 'L3HYPDH', 'score': 14.44}, {'connected_gene': 'RTN1', 'score': 7.94}, {'connected_gene': 'GC14M059571', 'score': 0.44}, {'connected_gene': 'ENSG00000258782', 'score': 0.23}]
chr14 GH14I059771 59771600 59771872 1 [{'connected_gene': 'GPR135', 'score': 11.36}, {'connected_gene': 'GC14M059744', 'score': 0.44}, {'connected_gene': 'GC14P059777', 'score': 0.44}, {'connected_gene': 'RTN1', 'score': 0.15}]
chr14 GH14I059724 59724502 59730584 0.46 [{'connected_gene': 'RTN1', 'score': 20.57}, {'connected_gene': 'PCNX4', 'score': 6.45}, {'connected_gene': 'RPL31P4', 'score': 5.11}, {'connected_gene': 'GC14P059713', 'score': 0.39}, {'connected_gene': 'GC14M059744', 'score': 0.28}]
chr14 GH14I059739 59739308 59741530 0.43 [{'connected_gene': 'RTN1', 'score': 19.88}, {'connected_gene': 'PCNX4', 'score': 5.86}, {'connected_gene': 'GC14P059713', 'score': 0.31}, {'connected_gene': 'GC14M059744', 'score': 0.31}]
chr14 GH14I059870 59870000 59871001 1.77 [{'connected_gene': 'RTN1', 'score': 550.77}, {'connected_gene': 'PCNX4', 'score': 11.22}, {'connected_gene': 'GC14P059856', 'score': 0.39}]
chr14 GH14I060865 60865527 60868302 0.31 [{'connected_gene': 'RTN1', 'score': 6.22}, {'connected_gene': 'ENSG00000258892', 'score': 0.39}, {'connected_gene': 'MAD2L1P1', 'score': 0.17}, {'connected_gene': 'MNAT1', 'score': 0.12}]
chr14 GH14I059192 59192001 59192472 0.51 [{'connected_gene': 'RTN1', 'score': 4.59}, {'connected_gene': 'DAAM1', 'score': 0.77}, {'connected_gene': 'GC14P059252', 'score': 0.21}]
chr14 GH14I060183 60183281 60185072 1.11 [{'connected_gene': 'RTN1', 'score': 13.46}, {'connected_gene': 'LOC101927702', 'score': 11.2}, {'connected_gene': 'PPM1A', 'score': 11.2}, {'connected_gene': 'C14orf39', 'score': 9.84}, {'connected_gene': 'GC14P060180', 'score': 0.77}, {'connected_gene': 'RPL17P2', 'score': 0.31}]
chr14 GH14I059630 59630400 59630801 1.63 [{'connected_gene': 'RTN1', 'score': 550.07}, {'connected_gene': 'MIR5586', 'score': 0.37}, {'connected_gene': 'GC14M059571', 'score': 0.26}]
chr14 GH14I060861 60861600 60864037 0.91 [{'connected_gene': 'RTN1', 'score': 6.58}, {'connected_gene': 'HIF1A-AS1', 'score': 4.4}, {'connected_gene': 'ENSG00000258892', 'score': 0.37}, {'connected_gene': 'MAD2L1P1', 'score': 0.18}, {'connected_gene': 'MNAT1', 'score': 0.13}]
chr14 GH14I059748 59748167 59748230 0.45 [{'connected_gene': 'RTN1', 'score': 1.42}, {'connected_gene': 'GC14M059744', 'score': 0.37}, {'connected_gene': 'GC14P059713', 'score': 0.29}]
chr14 GH14I059677 59677389 59678731 0.31 [{'connected_gene': 'RTN1', 'score': 12.45}, {'connected_gene': 'GC14M059672', 'score': 0.77}, {'connected_gene': 'GC14P059713', 'score': 0.28}]
chr14 GH14I059752 59752308 59756246 0.38 [{'connected_gene': 'RTN1', 'score': 15.81}, {'connected_gene': 'GC14M059744', 'score': 0.39}, {'connected_gene': 'GC14P059713', 'score': 0.26}]
chr14 GH14I060720 60720449 60725012 2.28 [{'connected_gene': 'SIX4', 'score': 550.77}, {'connected_gene': 'GC14M060376', 'score': 550.77}, {'connected_gene': 'TRMT5', 'score': 14.77}, {'connected_gene': 'MNAT1', 'score': 13.92}, {'connected_gene': 'SCOCP1', 'score': 12.21}, {'connected_gene': 'RTN1', 'score': 6.58}, {'connected_gene': 'PPM1A', 'score': 1.47}]
chr14 GH14I060150 60150794 60153210 1.38 [{'connected_gene': 'DHRS7', 'score': 22.61}, {'connected_gene': 'PCNX4', 'score': 11.98}, {'connected_gene': 'RTN1', 'score': 7.23}, {'connected_gene': 'PPM1A', 'score': 2.36}, {'connected_gene': 'SCOCP1', 'score': 0.44}, {'connected_gene': 'GC14P060159', 'score': 0.44}, {'connected_gene': 'GC14P060140', 'score': 0.39}]
chr14 GH14I059259 59259090 59259888 0.2 [{'connected_gene': 'DAAM1', 'score': 10.61}, {'connected_gene': 'RTN1', 'score': 5.37}, {'connected_gene': 'L3HYPDH', 'score': 5.23}, {'connected_gene': 'GC14P059252', 'score': 0.44}, {'connected_gene': 'GC14P059386', 'score': 0.13}]
chr14 GH14I059247 59247401 59248891 0.56 [{'connected_gene': 'DAAM1', 'score': 11.0}, {'connected_gene': 'RTN1', 'score': 8.11}, {'connected_gene': 'GC14P059252', 'score': 0.77}]
chr14 GH14I059244 59244353 59245166 0.67 [{'connected_gene': 'DAAM1', 'score': 11.0}, {'connected_gene': 'RTN1', 'score': 8.88}, {'connected_gene': 'GC14P059252', 'score': 0.44}]
chr14 GH14I059332 59332364 59334800 1.3 [{'connected_gene': 'DAAM1', 'score': 15.78}, {'connected_gene': 'L3HYPDH', 'score': 10.45}, {'connected_gene': 'RTN1', 'score': 6.02}, {'connected_gene': 'GPR135', 'score': 2.35}, {'connected_gene': 'GC14P059386', 'score': 0.23}, {'connected_gene': 'GC14P059252', 'score': 0.18}]
chr14 GH14I059334 59334817 59338560 0.78 [{'connected_gene': 'DAAM1', 'score': 15.04}, {'connected_gene': 'L3HYPDH', 'score': 9.83}, {'connected_gene': 'RTN1', 'score': 4.71}, {'connected_gene': 'GC14P059386', 'score': 0.23}, {'connected_gene': 'GC14P059252', 'score': 0.18}]
chr14 GH14I059301 59301360 59301672 0.96 [{'connected_gene': 'DAAM1', 'score': 13.83}, {'connected_gene': 'L3HYPDH', 'score': 10.44}, {'connected_gene': 'RTN1', 'score': 1.76}, {'connected_gene': 'GC14P059252', 'score': 0.25}, {'connected_gene': 'GC14P059386', 'score': 0.17}]
chr14 GH14I059312 59312238 59317678 1.07 [{'connected_gene': 'DAAM1', 'score': 14.79}, {'connected_gene': 'L3HYPDH', 'score': 10.45}, {'connected_gene': 'RTN1', 'score': 4.62}, {'connected_gene': 'GC14P059252', 'score': 0.21}, {'connected_gene': 'GC14P059386', 'score': 0.19}]
chr14 GH14I059621 59621944 59623370 0.2 [{'connected_gene': 'L3HYPDH', 'score': 17.1}, {'connected_gene': 'CCDC175', 'score': 11.01}, {'connected_gene': 'MIR5586', 'score': 0.34}, {'connected_gene': 'GC14M059571', 'score': 0.28}, {'connected_gene': 'RTN1', 'score': 0.07}]
chr14 GH14I059600 59600058 59601841 0.31 [{'connected_gene': 'L3HYPDH', 'score': 18.97}, {'connected_gene': 'RTN1', 'score': 5.74}, {'connected_gene': 'JKAMP', 'score': 5.68}, {'connected_gene': 'GC14M059571', 'score': 0.39}, {'connected_gene': 'MIR5586', 'score': 0.25}]
chr14 GH14I059394 59394362 59394555 0.26 [{'connected_gene': 'L3HYPDH', 'score': 21.98}, {'connected_gene': 'RTN1', 'score': 1.82}, {'connected_gene': 'DAAM1', 'score': 1.52}, {'connected_gene': 'GC14P059386', 'score': 0.44}, {'connected_gene': 'PIR32681', 'score': 0.2}]
chr14 GH14I059273 59273739 59279645 1.63 [{'connected_gene': 'L3HYPDH', 'score': 9.5}, {'connected_gene': 'RTN1', 'score': 4.75}, {'connected_gene': 'DAAM1', 'score': 4.69}, {'connected_gene': 'GC14P059252', 'score': 0.34}, {'connected_gene': 'GC14P059386', 'score': 0.14}]
chr14 GH14I059207 59207589 59208788 0.71 [{'connected_gene': 'L3HYPDH', 'score': 12.53}, {'connected_gene': 'RTN1', 'score': 6.92}, {'connected_gene': 'DAAM1', 'score': 0.37}, {'connected_gene': 'GC14P059252', 'score': 0.26}]
chr14 GH14I059594 59594603 59594876 0.22 [{'connected_gene': 'L3HYPDH', 'score': 18.8}, {'connected_gene': 'JKAMP', 'score': 10.07}, {'connected_gene': 'RTN1', 'score': 9.37}, {'connected_gene': 'DAAM1', 'score': 2.52}, {'connected_gene': 'CCDC175', 'score': 1.51}, {'connected_gene': 'GC14M059571', 'score': 0.44}, {'connected_gene': 'MIR5586', 'score': 0.23}]
chr14 GH14I059563 59563917 59567134 0.65 [{'connected_gene': 'L3HYPDH', 'score': 47.95}, {'connected_gene': 'JKAMP', 'score': 20.33}, {'connected_gene': 'RTN1', 'score': 4.71}, {'connected_gene': 'DAAM1', 'score': 4.29}, {'connected_gene': 'DHRS7', 'score': 4.09}, {'connected_gene': 'CCDC175', 'score': 0.37}, {'connected_gene': 'ENSG00000258782', 'score': 0.26}]
chr14 GH14I059405 59405890 59408483 1.17 [{'connected_gene': 'L3HYPDH', 'score': 29.89}, {'connected_gene': 'JKAMP', 'score': 10.69}, {'connected_gene': 'RTN1', 'score': 10.6}, {'connected_gene': 'DAAM1', 'score': 10.09}, {'connected_gene': 'RBM8B', 'score': 4.76}, {'connected_gene': 'GC14P059386', 'score': 0.34}, {'connected_gene': 'PIR32681', 'score': 0.22}]
chr14 GH14I059305 59305018 59307750 1.14 [{'connected_gene': 'L3HYPDH', 'score': 21.34}, {'connected_gene': 'DAAM1', 'score': 14.68}, {'connected_gene': 'PCNX4', 'score': 12.93}, {'connected_gene': 'KIAA0586', 'score': 11.84}, {'connected_gene': 'JKAMP', 'score': 10.2}, {'connected_gene': 'RTN1', 'score': 4.75}, {'connected_gene': 'GC14P059252', 'score': 0.23}, {'connected_gene': 'GC14P059386', 'score': 0.18}]
chr14 GH14I059324 59324304 59327198 0.31 [{'connected_gene': 'L3HYPDH', 'score': 10.45}, {'connected_gene': 'DAAM1', 'score': 10.22}, {'connected_gene': 'RTN1', 'score': 7.48}, {'connected_gene': 'PPM1A', 'score': 3.97}, {'connected_gene': 'GC14P059386', 'score': 0.21}, {'connected_gene': 'GC14P059252', 'score': 0.19}]
chr14 GH14I059359 59359983 59365837 1.31 [{'connected_gene': 'L3HYPDH', 'score': 20.97}, {'connected_gene': 'DAAM1', 'score': 15.82}, {'connected_gene': 'JKAMP', 'score': 6.45}, {'connected_gene': 'RTN1', 'score': 5.23}, {'connected_gene': 'GC14P059386', 'score': 0.34}, {'connected_gene': 'GC14P059252', 'score': 0.14}]
chr14 GH14I059830 59830001 59830200 0.2 [{'connected_gene': 'GC14P059856', 'score': 0.31}, {'connected_gene': 'RTN1', 'score': 0.26}, {'connected_gene': 'GC14P059777', 'score': 0.23}]
chr14 GH14I059772 59772601 59772800 0.38 [{'connected_gene': 'GC14P059777', 'score': 0.77}, {'connected_gene': 'GC14M059744', 'score': 0.44}, {'connected_gene': 'RTN1', 'score': 0.15}]
chr14 GH14I059699 59699404 59700200 0.2 [{'connected_gene': 'GC14P059713', 'score': 0.39}, {'connected_gene': 'GC14M059672', 'score': 0.34}, {'connected_gene': 'RTN1', 'score': 0.09}]
chr14 GH14I059918 59918863 59920749 1.42 [{'connected_gene': 'ENSG00000261120', 'score': 550.77}, {'connected_gene': 'LRRC9', 'score': 550.77}, {'connected_gene': 'RTN1', 'score': 11.19}, {'connected_gene': 'CCDC175', 'score': 5.62}]
chr14 GH14I060178 60178965 60180537 0.97 [{'connected_gene': 'GC14P060180', 'score': 550.77}, {'connected_gene': 'PSMA3P', 'score': 550.77}, {'connected_gene': 'PPM1A', 'score': 18.47}, {'connected_gene': 'RTN1', 'score': 12.71}, {'connected_gene': 'LOC101927702', 'score': 11.19}, {'connected_gene': 'PCNX4', 'score': 10.78}, {'connected_gene': 'C14orf39', 'score': 9.84}, {'connected_gene': 'RPL17P2', 'score': 0.29}]

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