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
ENST00000295628 [[120043355, 120050255], [120053708, 120053986], [120054671, 120054800], [120067590, 120068186]] [[120050046, 120050255], [120053708, 120053986], [120054671, 120054800], [120067590, 120068090]]
NM_001099678 [[120043575, 120050255], [120053708, 120053986], [120054671, 120054800], [120067590, 120068186]] [[120050046, 120050255], [120053708, 120053986], [120054671, 120054800], [120067590, 120068090]]
Promoter
Chrom Start End Description
chr3 120068115 120068136 CAGE_peak_2_at_LRRC58_5end
chr3 120068143 120068209 CAGE_peak_1_at_LRRC58_5end
chr3 120068226 120068237 CAGE_peak_5_at_LRRC58_5end
chr3 120068248 120068259 CAGE_peak_3_at_LRRC58_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I119715 119715720 119718227 0.98 [{'connected_gene': 'MAATS1', 'score': 33.23}, {'connected_gene': 'ENSG00000239994', 'score': 12.33}, {'connected_gene': 'RPL10P7', 'score': 6.35}, {'connected_gene': 'PLA1A', 'score': 5.23}, {'connected_gene': 'LRRC58', 'score': 4.49}, {'connected_gene': 'NR1I2', 'score': 2.66}]
chr3 GH03I119699 119699765 119701753 1 [{'connected_gene': 'MAATS1', 'score': 33.95}, {'connected_gene': 'ENSG00000239994', 'score': 10.38}, {'connected_gene': 'LRRC58', 'score': 5.25}, {'connected_gene': 'PLA1A', 'score': 5.13}, {'connected_gene': 'LOC105374064', 'score': 0.77}, {'connected_gene': 'PIR40954', 'score': 0.39}]
chr3 GH03I119702 119702494 119703543 1.75 [{'connected_gene': 'MAATS1', 'score': 583.95}, {'connected_gene': 'LOC105374064', 'score': 550.77}, {'connected_gene': 'LRRC58', 'score': 4.54}]
chr3 GH03I120404 120404400 120406975 0.2 [{'connected_gene': 'GPR156', 'score': 6.38}, {'connected_gene': 'LRRC58', 'score': 4.69}, {'connected_gene': 'MIR198', 'score': 0.44}, {'connected_gene': 'FSTL1', 'score': 0.25}, {'connected_gene': 'LOC100130701', 'score': 0.22}]
chr3 GH03I120344 120344330 120344767 0.49 [{'connected_gene': 'GPR156', 'score': 11.12}, {'connected_gene': 'LRRC58', 'score': 0.77}, {'connected_gene': 'GC03M120325', 'score': 0.37}]
chr3 GH03I120341 120341714 120341803 0.43 [{'connected_gene': 'GPR156', 'score': 11.12}, {'connected_gene': 'LRRC58', 'score': 0.44}, {'connected_gene': 'GC03M120325', 'score': 0.39}]
chr3 GH03I120416 120416037 120422714 1.36 [{'connected_gene': 'GPR156', 'score': 23.96}, {'connected_gene': 'FSTL1', 'score': 13.26}, {'connected_gene': 'LOC100130701', 'score': 7.58}, {'connected_gene': 'LRRC58', 'score': 6.29}, {'connected_gene': 'MIR198', 'score': 0.34}]
chr3 GH03I120412 120412681 120413840 0.2 [{'connected_gene': 'LRRC58', 'score': 6.25}, {'connected_gene': 'GPR156', 'score': 5.16}, {'connected_gene': 'MIR198', 'score': 0.37}, {'connected_gene': 'FSTL1', 'score': 0.28}, {'connected_gene': 'LOC100130701', 'score': 0.21}]
chr3 GH03I120467 120467938 120474121 1.15 [{'connected_gene': 'LRRC58', 'score': 9.81}, {'connected_gene': 'RPL34P9', 'score': 6.1}, {'connected_gene': 'ADPRH', 'score': 5.64}, {'connected_gene': 'ENSG00000240774', 'score': 0.39}, {'connected_gene': 'FSTL1', 'score': 0.37}]
chr3 GH03I120346 120346523 120346845 0.22 [{'connected_gene': 'LRRC58', 'score': 0.77}, {'connected_gene': 'GC03M120325', 'score': 0.37}]
chr3 GH03I120422 120422912 120428399 0.86 [{'connected_gene': 'FSTL1', 'score': 12.96}, {'connected_gene': 'GPR156', 'score': 12.14}, {'connected_gene': 'LOC100130701', 'score': 7.46}, {'connected_gene': 'LRRC58', 'score': 4.71}, {'connected_gene': 'GSK3B', 'score': 4.42}, {'connected_gene': 'ADPRH', 'score': 4.13}, {'connected_gene': 'MIR198', 'score': 0.31}]
chr3 GH03I120347 120347723 120351131 2.04 [{'connected_gene': 'LOC100130701', 'score': 575.85}, {'connected_gene': 'LRRC58', 'score': 550.77}, {'connected_gene': 'GPR156', 'score': 18.99}, {'connected_gene': 'TMEM39A', 'score': 11.91}, {'connected_gene': 'MAATS1', 'score': 10.11}, {'connected_gene': 'LOC442087', 'score': 5.63}]