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
ENST00000378743 [[72003251, 72004345], [72004474, 72004537], [72004837, 72004877], [72005565, 72005667], [72007114, 72007215], [72008314, 72008480], [72008613, 72008718], [72008985, 72009096], [72013094, 72013189], [72013705, 72013904], [72013989, 72014095], [72017139, 72017377], [72017883, 72018072], [72020039, 72020226], [72021530, 72021714], [72022697, 72022817], [72023388, 72023490], [72024379, 72024501], [72024602, 72024734], [72025557, 72025667], [72025751, 72026294], [72026665, 72026797], [72027043, 72027218], [72027934, 72028084], [72028483, 72028605], [72029222, 72029360], [72030269, 72030434], [72030629, 72030839], [72032197, 72032295], [72036215, 72036339], [72037874, 72038098], [72038656, 72038855], [72041528, 72041593], [72050664, 72051081], [72056792, 72057749]] [[72004207, 72004345], [72004474, 72004537], [72004837, 72004877], [72005565, 72005667], [72007114, 72007215], [72008314, 72008480], [72008613, 72008718], [72008985, 72009096], [72013094, 72013189], [72013705, 72013904], [72013989, 72014095], [72017139, 72017377], [72017883, 72018072], [72020039, 72020226], [72021530, 72021714], [72022697, 72022817], [72023388, 72023490], [72024379, 72024501], [72024602, 72024734], [72025557, 72025667], [72025751, 72026294], [72026665, 72026797], [72027043, 72027218], [72027934, 72028084], [72028483, 72028605], [72029222, 72029360], [72030269, 72030434], [72030629, 72030839], [72032197, 72032295], [72036215, 72036339], [72037874, 72038098], [72038656, 72038855], [72041528, 72041593], [72050664, 72051081], [72056792, 72057390]]
ENST00000552994 [[72003477, 72004345], [72004474, 72004537], [72004837, 72005667], [72007114, 72007215], [72008314, 72008480], [72008613, 72008718], [72008985, 72009096], [72013094, 72013189], [72013705, 72013904], [72013989, 72014095], [72017139, 72017377], [72017883, 72018072], [72020039, 72020226], [72021530, 72021714], [72022697, 72022817], [72023388, 72023490], [72024379, 72024501], [72024602, 72024734], [72025557, 72025667], [72025751, 72026294], [72026665, 72026797], [72027043, 72027218], [72027934, 72028084], [72028483, 72028605], [72029222, 72029360], [72030269, 72030434], [72030629, 72030839], [72032197, 72032295], [72036215, 72036339], [72037874, 72038098], [72038656, 72038855], [72041528, 72041593], [72050664, 72051081], [72056792, 72057599]] [[72005561, 72005667], [72007114, 72007215], [72008314, 72008480], [72008613, 72008718], [72008985, 72009096], [72013094, 72013189], [72013705, 72013904], [72013989, 72014095], [72017139, 72017377], [72017883, 72018072], [72020039, 72020226], [72021530, 72021714], [72022697, 72022817], [72023388, 72023490], [72024379, 72024501], [72024602, 72024734], [72025557, 72025667], [72025751, 72026294], [72026665, 72026797], [72027043, 72027218], [72027934, 72028084], [72028483, 72028605], [72029222, 72029360], [72030269, 72030434], [72030629, 72030839], [72032197, 72032295], [72036215, 72036339], [72037874, 72038098], [72038656, 72038855], [72041528, 72041593], [72050664, 72051081], [72056792, 72057390]]
ENST00000550963 [[72003889, 72004537], [72004837, 72005034]] None
ENST00000547398 [[72004167, 72004345], [72004474, 72004537], [72004837, 72005066]] None
ENST00000551487 [[72005335, 72005667], [72007114, 72007528]] None
ENST00000546475 [[72007146, 72007215], [72008314, 72008480], [72008613, 72008928]] None
ENST00000546771 [[72008850, 72009096], [72013094, 72013189], [72013705, 72013745]] None
ENST00000546606 [[72026002, 72026294], [72026665, 72026871]] None
ENST00000550712 [[72038693, 72038855], [72041528, 72041593], [72054068, 72054207], [72061300, 72061505]] None
ENST00000548100 [[72050122, 72051081], [72056792, 72057604]] [[72050638, 72051081], [72056792, 72057390]]
ENST00000552037 [[72050122, 72050343], [72050664, 72051081], [72056792, 72057638]] [[72050281, 72050343], [72050664, 72051081], [72056792, 72057390]]
ENST00000549407 [[72050662, 72051081], [72054150, 72054207], [72056764, 72057140]] None
NM_144982 [[72003378, 72004345], [72004474, 72004537], [72004837, 72004877], [72005565, 72005667], [72007114, 72007215], [72008314, 72008480], [72008613, 72008718], [72008985, 72009096], [72013094, 72013189], [72013705, 72013904], [72013989, 72014095], [72017139, 72017377], [72017883, 72018072], [72020039, 72020226], [72021530, 72021714], [72022697, 72022817], [72023388, 72023490], [72024379, 72024501], [72024602, 72024734], [72025557, 72025667], [72025751, 72026294], [72026665, 72026797], [72027043, 72027218], [72027934, 72028084], [72028483, 72028605], [72029222, 72029360], [72030269, 72030434], [72030629, 72030839], [72032197, 72032295], [72036215, 72036339], [72037874, 72038098], [72038656, 72038855], [72041528, 72041593], [72050664, 72051081], [72056792, 72057749]] [[72004207, 72004345], [72004474, 72004537], [72004837, 72004877], [72005565, 72005667], [72007114, 72007215], [72008314, 72008480], [72008613, 72008718], [72008985, 72009096], [72013094, 72013189], [72013705, 72013904], [72013989, 72014095], [72017139, 72017377], [72017883, 72018072], [72020039, 72020226], [72021530, 72021714], [72022697, 72022817], [72023388, 72023490], [72024379, 72024501], [72024602, 72024734], [72025557, 72025667], [72025751, 72026294], [72026665, 72026797], [72027043, 72027218], [72027934, 72028084], [72028483, 72028605], [72029222, 72029360], [72030269, 72030434], [72030629, 72030839], [72032197, 72032295], [72036215, 72036339], [72037874, 72038098], [72038656, 72038855], [72041528, 72041593], [72050664, 72051081], [72056792, 72057390]]
Promoter
Chrom Start End Description
chr12 72057516 72057527 CAGE_peak_5_at_ZFC3H1_5end
chr12 72057571 72057605 CAGE_peak_3_at_ZFC3H1_5end
chr12 72057607 72057636 CAGE_peak_1_at_ZFC3H1_5end
chr12 72057639 72057678 CAGE_peak_2_at_ZFC3H1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr12 GH12I071838 71838209 71841754 2.29 [{'connected_gene': 'TBC1D15', 'score': 562.69}, {'connected_gene': 'ZFC3H1', 'score': 16.42}, {'connected_gene': 'MRS2P2', 'score': 0.39}]
chr12 GH12I071654 71654469 71656364 0.62 [{'connected_gene': 'TMEM19', 'score': 11.55}, {'connected_gene': 'ENSG00000257515', 'score': 6.39}, {'connected_gene': 'THAP2', 'score': 0.44}, {'connected_gene': 'ZFC3H1', 'score': 0.39}, {'connected_gene': 'ENSG00000212461', 'score': 0.37}]
chr12 GH12I071747 71747101 71747250 0.64 [{'connected_gene': 'TMEM19', 'score': 11.39}, {'connected_gene': 'ZFC3H1', 'score': 11.13}, {'connected_gene': 'THAP2', 'score': 11.12}, {'connected_gene': 'ENSG00000212461', 'score': 10.96}, {'connected_gene': 'RAB21', 'score': 0.44}, {'connected_gene': 'ENSG00000257515', 'score': 0.28}]
chr12 GH12I071650 71650447 71653218 0.56 [{'connected_gene': 'TMEM19', 'score': 11.55}, {'connected_gene': 'ENSG00000257515', 'score': 7.26}, {'connected_gene': 'ZFC3H1', 'score': 5.32}, {'connected_gene': 'THAP2', 'score': 0.39}, {'connected_gene': 'ENSG00000212461', 'score': 0.39}]
chr12 GH12I071658 71658352 71660740 0.2 [{'connected_gene': 'TMEM19', 'score': 11.56}, {'connected_gene': 'ENSG00000212461', 'score': 11.49}, {'connected_gene': 'ENSG00000257515', 'score': 7.32}, {'connected_gene': 'ZFC3H1', 'score': 4.57}, {'connected_gene': 'THAP2', 'score': 0.77}]
chr12 GH12I071719 71719592 71720743 0.31 [{'connected_gene': 'TMEM19', 'score': 11.25}, {'connected_gene': 'ZFC3H1', 'score': 10.99}, {'connected_gene': 'ENSG00000257515', 'score': 6.51}, {'connected_gene': 'RAB21', 'score': 0.29}]
chr12 GH12I071731 71731471 71732469 1.13 [{'connected_gene': 'TMEM19', 'score': 11.77}, {'connected_gene': 'ZFC3H1', 'score': 11.57}, {'connected_gene': 'ENSG00000257515', 'score': 6.69}, {'connected_gene': 'RAB21', 'score': 0.34}]
chr12 GH12I071721 71721888 71722428 0.62 [{'connected_gene': 'TMEM19', 'score': 11.23}, {'connected_gene': 'ZFC3H1', 'score': 10.99}, {'connected_gene': 'ENSG00000257515', 'score': 0.39}, {'connected_gene': 'RAB21', 'score': 0.29}]
chr12 GH12I071753 71753104 71753160 0.89 [{'connected_gene': 'RAB21', 'score': 550.77}, {'connected_gene': 'TMEM19', 'score': 11.42}, {'connected_gene': 'ZFC3H1', 'score': 11.24}, {'connected_gene': 'THAP2', 'score': 11.23}, {'connected_gene': 'ENSG00000212461', 'score': 10.82}, {'connected_gene': 'ENSG00000257515', 'score': 0.26}]
chr12 GH12I071754 71754080 71756872 2.06 [{'connected_gene': 'RAB21', 'score': 550.77}, {'connected_gene': 'ZFC3H1', 'score': 31.45}, {'connected_gene': 'TBC1D15', 'score': 10.15}, {'connected_gene': 'ENSG00000257410', 'score': 0.26}]
chr12 GH12I071661 71661475 71666229 2.31 [{'connected_gene': 'ZFC3H1', 'score': 550.77}, {'connected_gene': 'THAP2', 'score': 550.77}, {'connected_gene': 'TMEM19', 'score': 10.76}, {'connected_gene': 'ENSG00000257515', 'score': 7.4}]
chr12 GH12I071625 71625973 71627867 1.08 [{'connected_gene': 'ZFC3H1', 'score': 15.67}, {'connected_gene': 'THAP2', 'score': 11.18}, {'connected_gene': 'ENSG00000257515', 'score': 7.14}, {'connected_gene': 'GC12P071640', 'score': 0.39}, {'connected_gene': 'ENSG00000257761', 'score': 0.26}]
chr12 GH12I071607 71607726 71609130 0.2 [{'connected_gene': 'ZFC3H1', 'score': 14.95}, {'connected_gene': 'ENSG00000212461', 'score': 11.56}, {'connected_gene': 'THAP2', 'score': 11.0}, {'connected_gene': 'ENSG00000257515', 'score': 7.11}, {'connected_gene': 'ENSG00000257761', 'score': 0.34}, {'connected_gene': 'GC12P071640', 'score': 0.29}]
chr12 GH12I071667 71667006 71667889 0.31 [{'connected_gene': 'ZFC3H1', 'score': 550.77}, {'connected_gene': 'ENSG00000257515', 'score': 7.42}, {'connected_gene': 'THAP2', 'score': 0.77}]
chr12 GH12I071648 71648976 71650096 0.31 [{'connected_gene': 'ZFC3H1', 'score': 4.47}, {'connected_gene': 'THAP2', 'score': 0.39}, {'connected_gene': 'ENSG00000212461', 'score': 0.39}]
chr12 GH12I071641 71641027 71643329 0.77 [{'connected_gene': 'ZFC3H1', 'score': 11.66}, {'connected_gene': 'ENSG00000257515', 'score': 7.21}, {'connected_gene': 'ENSG00000212461', 'score': 0.77}, {'connected_gene': 'THAP2', 'score': 0.34}]
chr12 GH12I071668 71668375 71669638 0.2 [{'connected_gene': 'ZFC3H1', 'score': 550.77}, {'connected_gene': 'ENSG00000258064', 'score': 0.44}, {'connected_gene': 'THAP2', 'score': 0.44}]
chr12 GH12I071643 71643658 71648841 0.43 [{'connected_gene': 'ZFC3H1', 'score': 15.62}, {'connected_gene': 'ENSG00000257515', 'score': 7.23}, {'connected_gene': 'ENSG00000212461', 'score': 0.44}, {'connected_gene': 'THAP2', 'score': 0.37}]
chr12 GH12I071693 71693404 71695452 0.84 [{'connected_gene': 'ZFC3H1', 'score': 11.56}, {'connected_gene': 'ENSG00000257515', 'score': 8.56}, {'connected_gene': 'TMEM19', 'score': 5.2}, {'connected_gene': 'ENSG00000258064', 'score': 0.34}]
chr12 GH12I071609 71609729 71611270 0.51 [{'connected_gene': 'ENSG00000212461', 'score': 11.58}, {'connected_gene': 'THAP2', 'score': 11.0}, {'connected_gene': 'ZFC3H1', 'score': 10.99}, {'connected_gene': 'GC12P071640', 'score': 0.31}, {'connected_gene': 'ENSG00000257761', 'score': 0.31}]
chr12 GH12I071671 71671721 71672352 1.03 [{'connected_gene': 'ENSG00000257515', 'score': 6.22}, {'connected_gene': 'TMEM19', 'score': 4.69}, {'connected_gene': 'ZFC3H1', 'score': 0.77}, {'connected_gene': 'ENSG00000258064', 'score': 0.77}, {'connected_gene': 'THAP2', 'score': 0.44}]
chr12 GH12I071709 71709677 71711350 0.83 [{'connected_gene': 'ENSG00000257515', 'score': 557.44}, {'connected_gene': 'TMEM19', 'score': 12.17}, {'connected_gene': 'ZFC3H1', 'score': 11.08}, {'connected_gene': 'RAB21', 'score': 0.26}]
chr12 GH12I071638 71638440 71640633 0.57 [{'connected_gene': 'GC12P071640', 'score': 550.77}, {'connected_gene': 'ENSG00000212461', 'score': 550.77}, {'connected_gene': 'ZFC3H1', 'score': 17.04}, {'connected_gene': 'THAP2', 'score': 12.1}, {'connected_gene': 'ENSG00000257515', 'score': 7.19}, {'connected_gene': 'LGR5', 'score': 5.13}]
chr12 GH12I071611 71611673 71613896 0.31 [{'connected_gene': 'ENSG00000212461', 'score': 11.94}, {'connected_gene': 'ZFC3H1', 'score': 11.21}, {'connected_gene': 'THAP2', 'score': 11.13}, {'connected_gene': 'ENSG00000257515', 'score': 7.12}, {'connected_gene': 'GC12P071640', 'score': 0.31}, {'connected_gene': 'ENSG00000257761', 'score': 0.31}]
chr12 GH12I071636 71636480 71637010 0.76 [{'connected_gene': 'GC12P071640', 'score': 0.77}, {'connected_gene': 'ZFC3H1', 'score': 0.29}, {'connected_gene': 'ENSG00000257761', 'score': 0.23}]