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
ENST00000412167 [[55524084, 55524248], [55561677, 55561947], [55564449, 55564731], [55565795, 55565932], [55569889, 55570058], [55573263, 55573453], [55575589, 55575705], [55589749, 55589864], [55592022, 55592204], [55593383, 55593490], [55593581, 55593708], [55593988, 55594093], [55594176, 55594287], [55595500, 55595651], [55597493, 55597585], [55598036, 55598164], [55599235, 55599358], [55602663, 55602775], [55602886, 55602986], [55603340, 55603446], [55604594, 55605177]] [[55524181, 55524248], [55561677, 55561947], [55564449, 55564731], [55565795, 55565932], [55569889, 55570058], [55573263, 55573453], [55575589, 55575705], [55589749, 55589864], [55592022, 55592204], [55593383, 55593490], [55593581, 55593708], [55593988, 55594093], [55594176, 55594287], [55595500, 55595651], [55597493, 55597585], [55598036, 55598164], [55599235, 55599358], [55602663, 55602775], [55602886, 55602986], [55603340, 55603446], [55604594, 55604723]]
ENST00000288135 [[55524084, 55524248], [55561677, 55561947], [55564449, 55564731], [55565795, 55565932], [55569889, 55570058], [55573263, 55573453], [55575589, 55575705], [55589749, 55589864], [55592022, 55592216], [55593383, 55593490], [55593581, 55593708], [55593988, 55594093], [55594176, 55594287], [55595500, 55595651], [55597493, 55597585], [55598036, 55598164], [55599235, 55599358], [55602663, 55602775], [55602886, 55602986], [55603340, 55603446], [55604594, 55606881]] [[55524181, 55524248], [55561677, 55561947], [55564449, 55564731], [55565795, 55565932], [55569889, 55570058], [55573263, 55573453], [55575589, 55575705], [55589749, 55589864], [55592022, 55592216], [55593383, 55593490], [55593581, 55593708], [55593988, 55594093], [55594176, 55594287], [55595500, 55595651], [55597493, 55597585], [55598036, 55598164], [55599235, 55599358], [55602663, 55602775], [55602886, 55602986], [55603340, 55603446], [55604594, 55604723]]
ENST00000514582 [[55524105, 55524248], [55561677, 55562072]] None
ENST00000512959 [[55595457, 55595651], [55597493, 55597585], [55598036, 55598164], [55599235, 55599567]] None
NM_001093772 [[55524094, 55524248], [55561677, 55561947], [55564449, 55564731], [55565795, 55565932], [55569889, 55570058], [55573263, 55573453], [55575589, 55575705], [55589749, 55589864], [55592022, 55592204], [55593383, 55593490], [55593581, 55593708], [55593988, 55594093], [55594176, 55594287], [55595500, 55595651], [55597493, 55597585], [55598036, 55598164], [55599235, 55599358], [55602663, 55602775], [55602886, 55602986], [55603340, 55603446], [55604594, 55606881]] [[55524181, 55524248], [55561677, 55561947], [55564449, 55564731], [55565795, 55565932], [55569889, 55570058], [55573263, 55573453], [55575589, 55575705], [55589749, 55589864], [55592022, 55592204], [55593383, 55593490], [55593581, 55593708], [55593988, 55594093], [55594176, 55594287], [55595500, 55595651], [55597493, 55597585], [55598036, 55598164], [55599235, 55599358], [55602663, 55602775], [55602886, 55602986], [55603340, 55603446], [55604594, 55604723]]
NM_000222 [[55524094, 55524248], [55561677, 55561947], [55564449, 55564731], [55565795, 55565932], [55569889, 55570058], [55573263, 55573453], [55575589, 55575705], [55589749, 55589864], [55592022, 55592216], [55593383, 55593490], [55593581, 55593708], [55593988, 55594093], [55594176, 55594287], [55595500, 55595651], [55597493, 55597585], [55598036, 55598164], [55599235, 55599358], [55602663, 55602775], [55602886, 55602986], [55603340, 55603446], [55604594, 55606881]] [[55524181, 55524248], [55561677, 55561947], [55564449, 55564731], [55565795, 55565932], [55569889, 55570058], [55573263, 55573453], [55575589, 55575705], [55589749, 55589864], [55592022, 55592216], [55593383, 55593490], [55593581, 55593708], [55593988, 55594093], [55594176, 55594287], [55595500, 55595651], [55597493, 55597585], [55598036, 55598164], [55599235, 55599358], [55602663, 55602775], [55602886, 55602986], [55603340, 55603446], [55604594, 55604723]]
Promoter
Chrom Start End Description
chr4 55523948 55523989 CAGE_peak_3_at_KIT_5end
chr4 55524101 55524110 CAGE_peak_2_at_KIT_5end
chr4 55524117 55524135 CAGE_peak_1_at_KIT_5end
chr4 55592961 55592964 CAGE_peak_4_at_KIT_5end
chr4 55595497 55595514 CAGE_peak_5_at_KIT_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I054715 54715366 54715512 0.22 [{'connected_gene': 'KIT', 'score': 1.72}, {'connected_gene': 'LOC105377657', 'score': 0.26}]
chr4 GH04I054660 54660516 54662445 1.01 [{'connected_gene': 'KIT', 'score': 31.17}, {'connected_gene': 'LOC105377657', 'score': 0.16}]
chr4 GH04I054687 54687529 54688873 0.66 [{'connected_gene': 'KIT', 'score': 0.29}, {'connected_gene': 'LOC105377657', 'score': 0.2}]
chr4 GH04I054658 54657314 54660399 1.9 [{'connected_gene': 'KIT', 'score': 550.77}, {'connected_gene': 'LOC105377657', 'score': 0.15}]
chr4 GH04I054667 54667639 54668832 0.43 [{'connected_gene': 'KIT', 'score': 0.39}, {'connected_gene': 'LOC105377657', 'score': 0.17}]
chr4 GH04I054711 54711980 54712276 0.22 [{'connected_gene': 'KIT', 'score': 3.35}, {'connected_gene': 'LOC105377657', 'score': 0.26}]
chr4 GH04I054683 54683628 54684096 0.66 [{'connected_gene': 'KIT', 'score': 0.31}, {'connected_gene': 'LOC105377657', 'score': 0.19}]
chr4 GH04I054571 54571083 54572019 1.23 [{'connected_gene': 'KIT', 'score': 37.87}, {'connected_gene': 'GC04P054597', 'score': 0.31}, {'connected_gene': 'ENSG00000251264', 'score': 0.13}]
chr4 GH04I054657 54657292 54657303 0.31 [{'connected_gene': 'KIT', 'score': 550.77}, {'connected_gene': 'GC04P054635', 'score': 0.34}, {'connected_gene': 'PIR51098', 'score': 0.34}]
chr4 GH04I054396 54396102 54396348 0.45 [{'connected_gene': 'KIT', 'score': 16.0}, {'connected_gene': 'ENSG00000248518', 'score': 0.34}, {'connected_gene': 'ENSG00000251264', 'score': 0.23}]
chr4 GH04I054588 54588375 54588686 1.17 [{'connected_gene': 'KIT', 'score': 22.2}, {'connected_gene': 'GC04P054597', 'score': 0.44}, {'connected_gene': 'ENSG00000251264', 'score': 0.11}]
chr4 GH04I054549 54549173 54549539 0.59 [{'connected_gene': 'KIT', 'score': 31.54}, {'connected_gene': 'GC04P054597', 'score': 0.25}, {'connected_gene': 'ENSG00000251264', 'score': 0.15}]
chr4 GH04I054542 54542515 54543443 1.16 [{'connected_gene': 'KIT', 'score': 16.89}, {'connected_gene': 'GC04P054597', 'score': 0.23}, {'connected_gene': 'ENSG00000251264', 'score': 0.15}]
chr4 GH04I054384 54384704 54384856 0.44 [{'connected_gene': 'KIT', 'score': 2.16}, {'connected_gene': 'ENSG00000248518', 'score': 0.44}, {'connected_gene': 'ENSG00000251264', 'score': 0.21}]
chr4 GH04I054585 54585733 54587112 1.05 [{'connected_gene': 'KIT', 'score': 23.86}, {'connected_gene': 'GC04P054597', 'score': 0.39}, {'connected_gene': 'ENSG00000251264', 'score': 0.12}]
chr4 GH04I054539 54539201 54540200 1.19 [{'connected_gene': 'KIT', 'score': 24.59}, {'connected_gene': 'GC04P054597', 'score': 0.22}, {'connected_gene': 'ENSG00000251264', 'score': 0.16}]
chr4 GH04I054393 54393333 54393592 0.22 [{'connected_gene': 'KIT', 'score': 15.75}, {'connected_gene': 'ENSG00000248518', 'score': 0.37}, {'connected_gene': 'ENSG00000251264', 'score': 0.23}]
chr4 GH04I054400 54400845 54401169 0.48 [{'connected_gene': 'KIT', 'score': 16.19}, {'connected_gene': 'ENSG00000248518', 'score': 0.31}, {'connected_gene': 'ENSG00000251264', 'score': 0.25}]
chr4 GH04I054708 54708290 54710591 0.98 [{'connected_gene': 'LOC105377657', 'score': 0.25}, {'connected_gene': 'KIT', 'score': 0.23}]
chr4 GH04I054755 54755453 54756476 0.52 [{'connected_gene': 'LOC105377657', 'score': 550.77}, {'connected_gene': 'KIT', 'score': 0.15}]
chr4 GH04I054742 54742801 54743200 0.2 [{'connected_gene': 'LOC105377657', 'score': 0.39}, {'connected_gene': 'KIT', 'score': 0.17}]
chr4 GH04I054635 54635286 54635605 0.37 [{'connected_gene': 'GC04P054635', 'score': 550.77}, {'connected_gene': 'PIR51098', 'score': 550.77}, {'connected_gene': 'KIT', 'score': 17.83}]