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
ENST00000371505 [[44246479, 44248127], [44249846, 44250296], [44253700, 44254269], [44255285, 44255655], [44265395, 44265425]] [[44247917, 44248127], [44249846, 44250296], [44253700, 44254269], [44255285, 44255562]]
ENST00000371503 [[44247896, 44248127], [44253700, 44254269], [44255285, 44255655], [44265395, 44265458]] [[44247917, 44248127], [44253700, 44254087]]
ENST00000371504 [[44247901, 44248127], [44253700, 44254090]] [[44247917, 44248127], [44253700, 44254087]]
NM_182539 [[44247896, 44248127], [44249846, 44250296], [44253700, 44254269], [44255285, 44255655], [44265395, 44265458]] [[44247917, 44248127], [44249846, 44250296], [44253700, 44254269], [44255285, 44255562]]
Promoter
Chrom Start End Description
chr6 44265397 44265405 CAGE_peak_3_at_TCTE1_5end
chr6 44265411 44265445 CAGE_peak_1_at_TCTE1_5end
chr6 44265446 44265462 CAGE_peak_2_at_TCTE1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I044312 44312135 44313973 2.13 [{'connected_gene': 'AARS2', 'score': 562.2}, {'connected_gene': 'ZNF318', 'score': 45.54}, {'connected_gene': 'ABCC10', 'score': 33.62}, {'connected_gene': 'RPS2P29', 'score': 32.97}, {'connected_gene': 'POLH', 'score': 28.46}, {'connected_gene': 'GTPBP2', 'score': 27.24}, {'connected_gene': 'POLR1C', 'score': 26.23}, {'connected_gene': 'XPO5', 'score': 23.88}, {'connected_gene': 'RPL34P14', 'score': 19.6}, {'connected_gene': 'ENSG00000271754', 'score': 18.56}, {'connected_gene': 'MYMX', 'score': 12.67}, {'connected_gene': 'CDC5L', 'score': 11.16}, {'connected_gene': 'ENSG00000271970', 'score': 11.12}, {'connected_gene': 'YIPF3', 'score': 10.01}, {'connected_gene': 'TMEM151B', 'score': 9.51}, {'connected_gene': 'TCTE1', 'score': 0.37}, {'connected_gene': 'ENSG00000272442', 'score': 0.28}]
chr6 GH06I044308 44308740 44309949 0.31 [{'connected_gene': 'AARS2', 'score': 0.77}, {'connected_gene': 'TCTE1', 'score': 0.39}, {'connected_gene': 'ENSG00000272442', 'score': 0.28}]
chr6 GH06I044232 44232665 44236361 1.32 [{'connected_gene': 'GTPBP2', 'score': 15.8}, {'connected_gene': 'RPS2P29', 'score': 12.62}, {'connected_gene': 'ABCC10', 'score': 11.99}, {'connected_gene': 'ZNF318', 'score': 11.79}, {'connected_gene': 'POLH', 'score': 11.48}, {'connected_gene': 'CAPN11', 'score': 11.41}, {'connected_gene': 'SLC35B2', 'score': 11.39}, {'connected_gene': 'NFKBIE', 'score': 11.34}, {'connected_gene': 'AARS2', 'score': 10.53}, {'connected_gene': 'TMEM151B', 'score': 10.5}, {'connected_gene': 'RPL34P14', 'score': 10.29}, {'connected_gene': 'YIPF3', 'score': 10.0}, {'connected_gene': 'TCTE1', 'score': 6.16}, {'connected_gene': 'SLC29A1', 'score': 5.85}, {'connected_gene': 'GC06P044236', 'score': 0.77}]
chr6 GH06I043944 43944983 43946254 0.76 [{'connected_gene': 'POLR1C', 'score': 13.5}, {'connected_gene': 'RPS2P29', 'score': 11.75}, {'connected_gene': 'PTK7', 'score': 11.72}, {'connected_gene': 'ZNF318', 'score': 10.09}, {'connected_gene': 'RPL34P14', 'score': 9.92}, {'connected_gene': 'TCTE1', 'score': 5.4}, {'connected_gene': 'LOC105375067', 'score': 0.26}, {'connected_gene': 'GC06M043993', 'score': 0.25}]
chr6 GH06I044275 44275188 44277008 0.65 [{'connected_gene': 'TMEM151B', 'score': 7.01}, {'connected_gene': 'ENSG00000272442', 'score': 0.77}, {'connected_gene': 'TCTE1', 'score': 0.34}]
chr6 GH06I044283 44283529 44283845 0.24 [{'connected_gene': 'SLC35B2', 'score': 12.41}, {'connected_gene': 'AARS2', 'score': 11.35}, {'connected_gene': 'SPATS1', 'score': 11.06}, {'connected_gene': 'TMEM63B', 'score': 10.78}, {'connected_gene': 'MRPL14', 'score': 10.78}, {'connected_gene': 'TMEM151B', 'score': 8.7}, {'connected_gene': 'TCTE1', 'score': 1.74}, {'connected_gene': 'ENSG00000272442', 'score': 0.39}]
chr6 GH06I044292 44292214 44292273 0.5 [{'connected_gene': 'TCTE1', 'score': 550.44}, {'connected_gene': 'AARS2', 'score': 12.01}, {'connected_gene': 'NFKBIE', 'score': 11.51}, {'connected_gene': 'SLC35B2', 'score': 11.49}, {'connected_gene': 'SPATS1', 'score': 10.8}, {'connected_gene': 'TMEM63B', 'score': 10.18}, {'connected_gene': 'MRPL14', 'score': 10.17}, {'connected_gene': 'SLC29A1', 'score': 10.02}, {'connected_gene': 'ENSG00000272442', 'score': 0.37}, {'connected_gene': 'TMEM151B', 'score': 0.34}]
chr6 GH06I044304 44304844 44304993 0.76 [{'connected_gene': 'TCTE1', 'score': 0.44}, {'connected_gene': 'AARS2', 'score': 0.44}, {'connected_gene': 'ENSG00000272442', 'score': 0.29}, {'connected_gene': 'TMEM151B', 'score': 0.29}]
chr6 GH06I044121 44121401 44121600 0.46 [{'connected_gene': 'TCTE1', 'score': 5.89}, {'connected_gene': 'TMEM63B', 'score': 0.44}, {'connected_gene': 'MRPL14', 'score': 0.44}, {'connected_gene': 'PIR46189', 'score': 0.39}]
chr6 GH06I044296 44296970 44298810 1.3 [{'connected_gene': 'TCTE1', 'score': 558.72}, {'connected_gene': 'POLR1C', 'score': 14.63}, {'connected_gene': 'RPS2P29', 'score': 10.13}, {'connected_gene': 'ENSG00000271754', 'score': 9.78}, {'connected_gene': 'TMEM151B', 'score': 6.93}, {'connected_gene': 'AARS2', 'score': 0.37}, {'connected_gene': 'ENSG00000272442', 'score': 0.34}]
chr6 GH06I044701 44701786 44702007 0.42 [{'connected_gene': 'TCTE1', 'score': 5.26}, {'connected_gene': 'LOC101929770', 'score': 0.31}, {'connected_gene': 'GC06M044627', 'score': 0.2}, {'connected_gene': 'GC06M044626', 'score': 0.2}]
chr6 GH06I043836 43836544 43836654 1.11 [{'connected_gene': 'CAPN11', 'score': 15.27}, {'connected_gene': 'TCTE1', 'score': 11.82}, {'connected_gene': 'VEGFA', 'score': 11.47}, {'connected_gene': 'ABCC10', 'score': 10.85}, {'connected_gene': 'RSPH9', 'score': 3.64}, {'connected_gene': 'LRRC73', 'score': 3.22}, {'connected_gene': 'MAD2L1BP', 'score': 1.65}, {'connected_gene': 'LOC105375069', 'score': 0.77}, {'connected_gene': 'LOC105375070', 'score': 0.28}, {'connected_gene': 'GC06P043362', 'score': 0.04}]