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
ENST00000541292 [[137143717, 137143933], [137146351, 137146409], [137147456, 137147607], [137166752, 137166830], [137167210, 137167319], [137187764, 137187871], [137191027, 137191141], [137191869, 137191977], [137193335, 137193391], [137219279, 137219379], [137234595, 137235037]] [[137143803, 137143933], [137146351, 137146409], [137147456, 137147607], [137166752, 137166830], [137167210, 137167319], [137187764, 137187871], [137191027, 137191141], [137191869, 137191965]]
ENST00000318471 [[137143722, 137143933], [137146351, 137146409], [137147456, 137147607], [137166752, 137166830], [137167210, 137167319], [137187764, 137187871], [137191027, 137191141], [137193335, 137193391], [137219279, 137219379], [137234595, 137235075]] [[137143803, 137143933], [137146351, 137146409], [137147456, 137147607], [137166752, 137166830], [137167210, 137167319], [137187764, 137187871], [137191027, 137191141], [137193335, 137193391], [137219279, 137219379], [137234595, 137234664]]
ENST00000367756 [[137143716, 137143933], [137146351, 137146409], [137147456, 137147607], [137151144, 137151398]] [[137143803, 137143933], [137146351, 137146409], [137147456, 137147607], [137151144, 137151174]]
NM_000288 [[137143701, 137143933], [137146351, 137146409], [137147456, 137147607], [137166752, 137166830], [137167210, 137167319], [137187764, 137187871], [137191027, 137191141], [137193335, 137193391], [137219279, 137219379], [137234595, 137235072]] [[137143803, 137143933], [137146351, 137146409], [137147456, 137147607], [137166752, 137166830], [137167210, 137167319], [137187764, 137187871], [137191027, 137191141], [137193335, 137193391], [137219279, 137219379], [137234595, 137234664]]
Promoter
Chrom Start End Description
chr6 137143694 137143755 CAGE_peak_1_at_PEX7_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I136760 136760035 136769197 1.55 [{'connected_gene': 'BCLAF1', 'score': 27.34}, {'connected_gene': 'PEX7', 'score': 26.39}, {'connected_gene': 'MAP3K5', 'score': 14.83}, {'connected_gene': 'LOC101928461', 'score': 10.29}, {'connected_gene': 'RNA5SP219', 'score': 10.29}, {'connected_gene': 'LOC101928429', 'score': 0.37}]
chr6 GH06I136735 136735542 136740579 0.9 [{'connected_gene': 'BCLAF1', 'score': 29.9}, {'connected_gene': 'PEX7', 'score': 13.17}, {'connected_gene': 'MAP3K5', 'score': 13.02}, {'connected_gene': 'RNA5SP219', 'score': 11.46}, {'connected_gene': 'LOC101928461', 'score': 11.46}, {'connected_gene': 'LOC101928429', 'score': 0.25}]
chr6 GH06I136749 136749503 136754535 1.22 [{'connected_gene': 'BCLAF1', 'score': 14.08}, {'connected_gene': 'PEX7', 'score': 12.73}, {'connected_gene': 'LOC101928429', 'score': 0.29}, {'connected_gene': 'MAP3K5', 'score': 0.26}, {'connected_gene': 'RNA5SP219', 'score': 0.13}]
chr6 GH06I136719 136719401 136721139 0.95 [{'connected_gene': 'BCLAF1', 'score': 18.9}, {'connected_gene': 'MAP3K5', 'score': 12.32}, {'connected_gene': 'PEX7', 'score': 10.62}, {'connected_gene': 'LOC101928429', 'score': 0.21}, {'connected_gene': 'RNA5SP219', 'score': 0.16}]
chr6 GH06I136608 136607343 136607492 0.9 [{'connected_gene': 'BCLAF1', 'score': 34.42}, {'connected_gene': 'RNA5SP219', 'score': 13.0}, {'connected_gene': 'LOC101928461', 'score': 13.0}, {'connected_gene': 'MAP3K5', 'score': 11.86}, {'connected_gene': 'PEX7', 'score': 10.48}, {'connected_gene': 'MAP7', 'score': 0.22}]
chr6 GH06I136770 136770919 136776028 1.38 [{'connected_gene': 'PEX7', 'score': 27.32}, {'connected_gene': 'BCLAF1', 'score': 12.23}, {'connected_gene': 'RNA5SP219', 'score': 10.28}, {'connected_gene': 'LOC101928461', 'score': 10.28}, {'connected_gene': 'LOC101928429', 'score': 0.39}, {'connected_gene': 'MAP3K5', 'score': 0.37}]
chr6 GH06I136821 136821800 136823560 1.98 [{'connected_gene': 'PEX7', 'score': 569.04}, {'connected_gene': 'BCLAF1', 'score': 21.66}, {'connected_gene': 'GC06M136857', 'score': 0.29}, {'connected_gene': 'ENSG00000201807', 'score': 0.29}]
chr6 GH06I136716 136716002 136718178 0.89 [{'connected_gene': 'PEX7', 'score': 13.17}, {'connected_gene': 'MAP3K5', 'score': 12.31}, {'connected_gene': 'LOC101928429', 'score': 0.2}, {'connected_gene': 'RNA5SP219', 'score': 0.17}]
chr6 GH06I136696 136696323 136697343 0.46 [{'connected_gene': 'PEX7', 'score': 19.37}, {'connected_gene': 'MAP3K5', 'score': 13.01}, {'connected_gene': 'RNA5SP219', 'score': 11.74}, {'connected_gene': 'LOC101928461', 'score': 11.74}, {'connected_gene': 'LOC101928429', 'score': 0.17}]
chr6 GH06I136723 136723903 136724112 0.64 [{'connected_gene': 'PEX7', 'score': 23.03}, {'connected_gene': 'MAP3K5', 'score': 11.36}, {'connected_gene': 'RNA5SP219', 'score': 10.83}, {'connected_gene': 'LOC101928461', 'score': 10.83}, {'connected_gene': 'LOC101928429', 'score': 0.21}]
chr6 GH06I136820 136820703 136820852 0.2 [{'connected_gene': 'PEX7', 'score': 568.92}, {'connected_gene': 'MAP3K5', 'score': 0.31}]
chr6 GH06I136781 136781201 136781400 0.51 [{'connected_gene': 'PEX7', 'score': 16.96}, {'connected_gene': 'LOC101928429', 'score': 0.77}, {'connected_gene': 'MAP3K5', 'score': 0.39}, {'connected_gene': 'RNA5SP219', 'score': 0.1}]
chr6 GH06I136756 136756202 136757999 1.09 [{'connected_gene': 'PEX7', 'score': 10.07}, {'connected_gene': 'LOC101928429', 'score': 0.31}, {'connected_gene': 'MAP3K5', 'score': 0.28}, {'connected_gene': 'RNA5SP219', 'score': 0.13}]
chr6 GH06I136730 136730136 136731734 0.63 [{'connected_gene': 'PEX7', 'score': 12.88}, {'connected_gene': 'RNA5SP219', 'score': 10.32}, {'connected_gene': 'LOC101928461', 'score': 10.32}, {'connected_gene': 'LOC101928429', 'score': 0.23}, {'connected_gene': 'MAP3K5', 'score': 0.21}]
chr6 GH06I136860 136860100 136860433 0.22 [{'connected_gene': 'PEX7', 'score': 12.5}, {'connected_gene': 'RNA5SP219', 'score': 10.72}, {'connected_gene': 'LOC101928461', 'score': 10.72}, {'connected_gene': 'GC06M136857', 'score': 0.77}, {'connected_gene': 'ENSG00000201807', 'score': 0.77}, {'connected_gene': 'GC06M136860', 'score': 0.44}]
chr6 GH06I136700 136700243 136700392 0.64 [{'connected_gene': 'PEX7', 'score': 20.0}, {'connected_gene': 'RNA5SP219', 'score': 0.19}, {'connected_gene': 'LOC101928429', 'score': 0.18}, {'connected_gene': 'MAP3K5', 'score': 0.16}]
chr6 GH06I136782 136781763 136793891 2.51 [{'connected_gene': 'MAP3K5', 'score': 556.72}, {'connected_gene': 'BCLAF1', 'score': 36.69}, {'connected_gene': 'PEX7', 'score': 17.01}, {'connected_gene': 'MTFR2', 'score': 9.79}, {'connected_gene': 'IFNGR1', 'score': 7.39}, {'connected_gene': 'LOC101928429', 'score': 0.77}]
chr6 GH06I136718 136718201 136718400 0.31 [{'connected_gene': 'MAP3K5', 'score': 12.32}, {'connected_gene': 'PEX7', 'score': 10.14}, {'connected_gene': 'LOC101928429', 'score': 0.2}, {'connected_gene': 'RNA5SP219', 'score': 0.17}]
chr6 GH06I136643 136643723 136644871 1.37 [{'connected_gene': 'MAP3K5', 'score': 12.14}, {'connected_gene': 'PEX7', 'score': 11.28}, {'connected_gene': 'RNA5SP219', 'score': 0.39}, {'connected_gene': 'LOC101928461', 'score': 0.37}, {'connected_gene': 'LOC101928429', 'score': 0.12}]
chr6 GH06I136646 136646358 136648918 0.92 [{'connected_gene': 'MAP3K5', 'score': 12.45}, {'connected_gene': 'PEX7', 'score': 11.35}, {'connected_gene': 'RNA5SP219', 'score': 0.37}, {'connected_gene': 'LOC101928461', 'score': 0.37}, {'connected_gene': 'LOC101928429', 'score': 0.12}]
chr6 GH06I136640 136640663 136640812 0.2 [{'connected_gene': 'MAP3K5', 'score': 12.13}, {'connected_gene': 'PEX7', 'score': 11.27}, {'connected_gene': 'RNA5SP219', 'score': 0.39}, {'connected_gene': 'LOC101928461', 'score': 0.39}, {'connected_gene': 'LOC101928429', 'score': 0.11}]
chr6 GH06I136920 136920755 136924140 1.76 [{'connected_gene': 'SLC35D3', 'score': 569.98}, {'connected_gene': 'GC06M136918', 'score': 550.77}, {'connected_gene': 'BCLAF1', 'score': 17.96}, {'connected_gene': 'PEX7', 'score': 5.86}, {'connected_gene': 'IL20RA', 'score': 4.16}, {'connected_gene': 'ENSG00000207247', 'score': 0.39}]
chr6 GH06I136604 136604413 136605388 0.49 [{'connected_gene': 'LOC101928461', 'score': 13.0}, {'connected_gene': 'RNA5SP219', 'score': 12.97}, {'connected_gene': 'BCLAF1', 'score': 12.33}, {'connected_gene': 'MAP3K5', 'score': 11.86}, {'connected_gene': 'PEX7', 'score': 10.48}, {'connected_gene': 'MAP7', 'score': 0.23}]
chr6 GH06I136607 136607961 136612094 1.19 [{'connected_gene': 'RNA5SP219', 'score': 13.0}, {'connected_gene': 'MAP3K5', 'score': 11.87}, {'connected_gene': 'PEX7', 'score': 10.48}, {'connected_gene': 'LOC101928461', 'score': 0.37}, {'connected_gene': 'MAP7', 'score': 0.22}]
chr6 GH06I136668 136668843 136669728 0.72 [{'connected_gene': 'RNA5SP219', 'score': 11.99}, {'connected_gene': 'LOC101928461', 'score': 11.97}, {'connected_gene': 'PEX7', 'score': 10.23}, {'connected_gene': 'LOC101928429', 'score': 0.14}, {'connected_gene': 'MAP3K5', 'score': 0.13}]
chr6 GH06I136606 136606483 136606716 0.33 [{'connected_gene': 'RNA5SP219', 'score': 13.0}, {'connected_gene': 'LOC101928461', 'score': 13.0}, {'connected_gene': 'MAP3K5', 'score': 11.86}, {'connected_gene': 'PEX7', 'score': 10.48}, {'connected_gene': 'MAP7', 'score': 0.22}]
chr6 GH06I136840 136840763 136840912 0.2 [{'connected_gene': 'GC06M136857', 'score': 0.39}, {'connected_gene': 'ENSG00000201807', 'score': 0.39}, {'connected_gene': 'PEX7', 'score': 0.37}]