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
ENST00000325642 [[60712469, 60712764], [60749401, 60750255], [60752341, 60752459], [60756523, 60756632], [60758114, 60758172], [60759170, 60759449]] [[60712565, 60712764], [60749401, 60750255], [60752341, 60752459], [60756523, 60756632], [60758114, 60758172], [60759170, 60759200]]
ENST00000531143 [[60712474, 60712764], [60743722, 60743809], [60749401, 60750255], [60752341, 60752459], [60756523, 60756632], [60758114, 60758172], [60759170, 60759200]] [[60712565, 60712764], [60743722, 60743805]]
ENST00000529574 [[60712474, 60712764], [60743722, 60743809], [60749401, 60750255], [60752341, 60752459], [60756523, 60756632], [60758114, 60758172], [60759170, 60759200]] [[60749421, 60750255], [60752341, 60752459], [60756523, 60756632], [60758114, 60758172], [60759170, 60759200]]
ENST00000532036 [[60712502, 60712764], [60749401, 60749512], [60752341, 60752459], [60756523, 60756632], [60758114, 60758172], [60759170, 60760073]] [[60712565, 60712764], [60749401, 60749512], [60752341, 60752459], [60756523, 60756590]]
ENST00000395076 [[60715985, 60716395], [60749401, 60750255], [60752341, 60752459], [60756523, 60756632], [60758114, 60758172], [60759170, 60765805]] [[60749421, 60750255], [60752341, 60752459], [60756523, 60756632], [60758114, 60758172], [60759170, 60759200]]
ENST00000325658 [[60716158, 60716395], [60717097, 60717199], [60749401, 60750255], [60752341, 60755273]] [[60749421, 60750255], [60752341, 60752482]]
ENST00000528241 [[60716377, 60716395], [60743722, 60743809], [60744030, 60744083], [60749401, 60749807]] [[60749421, 60749807]]
ENST00000525399 [[60717148, 60717199], [60733932, 60734009], [60735010, 60735153], [60749401, 60749984]] [[60749421, 60749984]]
ENST00000531937 [[60723479, 60723584], [60749401, 60749865]] [[60749421, 60749865]]
NM_177952 [[60712469, 60712764], [60749401, 60750255], [60752341, 60752459], [60756523, 60756632], [60758114, 60758172], [60759170, 60765805]] [[60712565, 60712764], [60749401, 60750255], [60752341, 60752459], [60756523, 60756632], [60758114, 60758172], [60759170, 60759200]]
NM_177951 [[60715965, 60716395], [60717097, 60717199], [60749401, 60750255], [60752341, 60755273]] [[60749421, 60750255], [60752341, 60752482]]
NM_021003 [[60715965, 60716395], [60749401, 60750255], [60752341, 60752459], [60756523, 60756632], [60758114, 60758172], [60759170, 60765805]] [[60749421, 60750255], [60752341, 60752459], [60756523, 60756632], [60758114, 60758172], [60759170, 60759200]]
Promoter
Chrom Start End Description
chr14 60712463 60712473 CAGE_peak_17_at_PPM1A_5end
chr14 60712518 60712543 CAGE_peak_15_at_PPM1A_5end
chr14 60715908 60715926 CAGE_peak_2_at_PPM1A_5end
chr14 60715928 60716007 CAGE_peak_1_at_PPM1A_5end
chr14 60716230 60716271 CAGE_peak_4_at_PPM1A_5end
chr14 60716276 60716299 CAGE_peak_6_at_PPM1A_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr14 GH14I060212 60212468 60213256 0.86 [{'connected_gene': 'RPL17P2', 'score': 550.77}, {'connected_gene': 'PPM1A', 'score': 11.99}, {'connected_gene': 'LOC101927702', 'score': 11.98}, {'connected_gene': 'GC14P060180', 'score': 0.29}]
chr14 GH14I060640 60640562 60659805 2.85 [{'connected_gene': 'SIX1', 'score': 550.44}, {'connected_gene': 'TRMT5', 'score': 45.64}, {'connected_gene': 'SLC38A6', 'score': 31.46}, {'connected_gene': 'PCNX4', 'score': 29.74}, {'connected_gene': 'C14orf39', 'score': 25.92}, {'connected_gene': 'LOC101927702', 'score': 12.32}, {'connected_gene': 'SIX4', 'score': 10.84}, {'connected_gene': 'TMEM30B', 'score': 10.66}, {'connected_gene': 'MNAT1', 'score': 10.62}, {'connected_gene': 'SIX6', 'score': 9.93}, {'connected_gene': 'RNU6-398P', 'score': 9.09}, {'connected_gene': 'PPM1A', 'score': 5.21}, {'connected_gene': 'GC14P060643', 'score': 0.44}, {'connected_gene': 'LOC105378189', 'score': 0.44}, {'connected_gene': 'SALRNA1', 'score': 0.39}, {'connected_gene': 'GC14M060376', 'score': 0.19}]
chr14 GH14I060153 60153614 60155258 0.6 [{'connected_gene': 'PCNX4', 'score': 11.08}, {'connected_gene': 'LOC101927702', 'score': 10.31}, {'connected_gene': 'PPM1A', 'score': 10.31}, {'connected_gene': 'SCOCP1', 'score': 0.77}, {'connected_gene': 'GC14P060159', 'score': 0.77}, {'connected_gene': 'GC14P060140', 'score': 0.39}, {'connected_gene': 'DHRS7', 'score': 0.37}]
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 GH14I060311 60311485 60311761 0.78 [{'connected_gene': 'TRMT5', 'score': 11.4}, {'connected_gene': 'SIX6', 'score': 10.23}, {'connected_gene': 'SIX4', 'score': 10.11}, {'connected_gene': 'GPR135', 'score': 10.11}, {'connected_gene': 'PPM1A', 'score': 1.47}, {'connected_gene': 'LINC02322', 'score': 0.44}, {'connected_gene': 'GC14P060353', 'score': 0.26}]
chr14 GH14I061098 61098239 61099954 0.31 [{'connected_gene': 'TRMT5', 'score': 9.7}, {'connected_gene': 'SLC38A6', 'score': 9.7}, {'connected_gene': 'SIX1', 'score': 5.2}, {'connected_gene': 'PPM1A', 'score': 5.15}, {'connected_gene': 'LOC105378182', 'score': 0.39}, {'connected_gene': 'LOC101927756', 'score': 0.25}]
chr14 GH14I060310 60310059 60310293 0.52 [{'connected_gene': 'PPM1A', 'score': 13.84}, {'connected_gene': 'SIX6', 'score': 10.23}, {'connected_gene': 'LINC02322', 'score': 0.77}, {'connected_gene': 'GC14P060353', 'score': 0.26}]
chr14 GH14I061107 61107155 61112007 0.94 [{'connected_gene': 'PPM1A', 'score': 4.78}, {'connected_gene': 'C14orf39', 'score': 3.99}, {'connected_gene': 'LOC105378182', 'score': 0.77}, {'connected_gene': 'LOC101927756', 'score': 0.22}]
chr14 GH14I061118 61118879 61120270 0.2 [{'connected_gene': 'PPM1A', 'score': 4.19}, {'connected_gene': 'PIR50390', 'score': 0.77}, {'connected_gene': 'GC14P061120', 'score': 0.77}, {'connected_gene': 'LOC105378182', 'score': 0.44}, {'connected_gene': 'GC14M061127', 'score': 0.39}]
chr14 GH14I060245 60245701 60245760 0.86 [{'connected_gene': 'PPM1A', 'score': 550.77}, {'connected_gene': 'LOC101927702', 'score': 0.77}, {'connected_gene': 'RPL17P2', 'score': 0.29}]
chr14 GH14I060247 60247069 60252544 2.28 [{'connected_gene': 'PPM1A', 'score': 568.96}, {'connected_gene': 'LOC101927702', 'score': 550.77}, {'connected_gene': 'TRMT5', 'score': 10.18}, {'connected_gene': 'GC14P060294', 'score': 0.26}]
chr14 GH14I060315 60315103 60316075 0.38 [{'connected_gene': 'PPM1A', 'score': 24.97}, {'connected_gene': 'LOC101927702', 'score': 10.94}, {'connected_gene': 'SIX6', 'score': 10.24}, {'connected_gene': 'LINC02322', 'score': 0.39}, {'connected_gene': 'GC14P060353', 'score': 0.28}]
chr14 GH14I060316 60316383 60318416 0.43 [{'connected_gene': 'PPM1A', 'score': 26.03}, {'connected_gene': 'LOC101927702', 'score': 10.94}, {'connected_gene': 'LINC02322', 'score': 0.39}, {'connected_gene': 'GC14P060353', 'score': 0.28}]
chr14 GH14I060277 60277664 60279186 0.69 [{'connected_gene': 'PPM1A', 'score': 31.63}, {'connected_gene': 'LOC101927702', 'score': 11.87}, {'connected_gene': 'GC14P060294', 'score': 0.39}]
chr14 GH14I060264 60264394 60264453 0.61 [{'connected_gene': 'PPM1A', 'score': 550.37}, {'connected_gene': 'LOC101927702', 'score': 0.37}, {'connected_gene': 'GC14P060294', 'score': 0.31}]
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 GH14I060155 60155367 60156704 0.31 [{'connected_gene': 'DHRS7', 'score': 21.98}, {'connected_gene': 'PCNX4', 'score': 11.08}, {'connected_gene': 'PPM1A', 'score': 10.32}, {'connected_gene': 'LOC101927702', 'score': 10.31}, {'connected_gene': 'CCDC175', 'score': 6.74}, {'connected_gene': 'SCOCP1', 'score': 0.77}, {'connected_gene': 'GC14P060159', 'score': 0.77}, {'connected_gene': 'GC14P060140', 'score': 0.37}]
chr14 GH14I060174 60174263 60176232 0.54 [{'connected_gene': 'DHRS7', 'score': 22.02}, {'connected_gene': 'PCNX4', 'score': 10.78}, {'connected_gene': 'LOC101927702', 'score': 10.34}, {'connected_gene': 'PPM1A', 'score': 10.34}, {'connected_gene': 'PSMA3P', 'score': 0.77}]
chr14 GH14I060158 60158320 60160195 0.2 [{'connected_gene': 'SCOCP1', 'score': 550.77}, {'connected_gene': 'GC14P060159', 'score': 550.77}, {'connected_gene': 'DHRS7', 'score': 21.98}, {'connected_gene': 'PCNX4', 'score': 11.49}, {'connected_gene': 'LOC101927702', 'score': 10.32}, {'connected_gene': 'PPM1A', 'score': 10.32}]
chr14 GH14I060327 60327203 60328400 1.11 [{'connected_gene': 'C14orf39', 'score': 13.63}, {'connected_gene': 'LOC101927702', 'score': 11.11}, {'connected_gene': 'PPM1A', 'score': 11.1}, {'connected_gene': 'LINC02322', 'score': 0.34}, {'connected_gene': 'GC14P060353', 'score': 0.31}]
chr14 GH14I060329 60329983 60330590 0.2 [{'connected_gene': 'C14orf39', 'score': 14.49}, {'connected_gene': 'LOC101927702', 'score': 10.83}, {'connected_gene': 'PPM1A', 'score': 10.83}, {'connected_gene': 'LINC02322', 'score': 0.34}, {'connected_gene': 'GC14P060353', 'score': 0.34}]
chr14 GH14I061100 61100579 61105226 1.78 [{'connected_gene': 'SLC38A6', 'score': 12.02}, {'connected_gene': 'TRMT5', 'score': 10.09}, {'connected_gene': 'C14orf39', 'score': 5.99}, {'connected_gene': 'SIX1', 'score': 5.14}, {'connected_gene': 'PPM1A', 'score': 4.63}, {'connected_gene': 'LOC105378182', 'score': 0.39}, {'connected_gene': 'LOC101927756', 'score': 0.23}]
chr14 GH14I060330 60330801 60332532 1.27 [{'connected_gene': 'L3HYPDH', 'score': 22.03}, {'connected_gene': 'C14orf39', 'score': 14.51}, {'connected_gene': 'PCNX4', 'score': 11.47}, {'connected_gene': 'SCOCP1', 'score': 11.19}, {'connected_gene': 'LOC101927702', 'score': 10.83}, {'connected_gene': 'PPM1A', 'score': 10.83}, {'connected_gene': 'TRMT5', 'score': 10.62}, {'connected_gene': 'GC14P060353', 'score': 0.34}, {'connected_gene': 'LINC02322', 'score': 0.31}]
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 GH14I060204 60204150 60205352 1.01 [{'connected_gene': 'LOC101927702', 'score': 11.38}, {'connected_gene': 'PPM1A', 'score': 11.38}, {'connected_gene': 'TRMT5', 'score': 11.16}, {'connected_gene': 'L3HYPDH', 'score': 10.65}, {'connected_gene': 'DHRS7', 'score': 10.53}, {'connected_gene': 'RPL17P2', 'score': 0.44}, {'connected_gene': 'GC14P060180', 'score': 0.31}]
chr14 GH14I060335 60335520 60336173 0.2 [{'connected_gene': 'LOC101927702', 'score': 11.65}, {'connected_gene': 'PPM1A', 'score': 11.64}, {'connected_gene': 'C14orf39', 'score': 10.33}, {'connected_gene': 'GC14P060353', 'score': 0.37}, {'connected_gene': 'LINC02322', 'score': 0.29}]
chr14 GH14I060338 60338217 60340087 0.2 [{'connected_gene': 'LOC101927702', 'score': 11.64}, {'connected_gene': 'PPM1A', 'score': 11.64}, {'connected_gene': 'C14orf39', 'score': 10.33}, {'connected_gene': 'GC14P060353', 'score': 0.39}, {'connected_gene': 'LINC02322', 'score': 0.29}]
chr14 GH14I060302 60302943 60303004 0.31 [{'connected_gene': 'LOC101927702', 'score': 10.16}, {'connected_gene': 'PPM1A', 'score': 10.15}, {'connected_gene': 'LINC02322', 'score': 0.77}, {'connected_gene': 'GC14P060296', 'score': 0.44}]
chr14 GH14I060334 60334605 60335466 0.2 [{'connected_gene': 'LOC101927702', 'score': 10.83}, {'connected_gene': 'PPM1A', 'score': 10.83}, {'connected_gene': 'GC14P060353', 'score': 0.37}, {'connected_gene': 'LINC02322', 'score': 0.31}]
chr14 GH14I060272 60272401 60272600 0.31 [{'connected_gene': 'LOC101927702', 'score': 12.27}, {'connected_gene': 'PPM1A', 'score': 12.24}, {'connected_gene': 'GC14P060294', 'score': 0.34}]
chr14 GH14I060254 60254283 60254412 0.49 [{'connected_gene': 'LOC101927702', 'score': 0.44}, {'connected_gene': 'PPM1A', 'score': 0.44}, {'connected_gene': 'GC14P060294', 'score': 0.28}]
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}]
chr14 GH14I061113 61113354 61114463 0.31 [{'connected_gene': 'GC14P061117', 'score': 550.77}, {'connected_gene': 'GC14P061115', 'score': 550.77}, {'connected_gene': 'LOC105378182', 'score': 550.77}, {'connected_gene': 'GC14P061118', 'score': 550.77}, {'connected_gene': 'PIR32534', 'score': 550.77}, {'connected_gene': 'GC14P061119', 'score': 550.77}, {'connected_gene': 'PPM1A', 'score': 4.08}]

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