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
ENST00000375533 [[28966270, 28966902], [28970186, 28970474], [28970911, 28971868]] [[28966826, 28966902], [28970186, 28970474], [28970911, 28971330]]
ENST00000497699 [[28966438, 28966902], [28970186, 28971606]] None
NM_012342 [[28966423, 28966902], [28970186, 28970474], [28970911, 28971868]] [[28966826, 28966902], [28970186, 28970474], [28970911, 28971330]]
Promoter
Chrom Start End Description
chr10 28966416 28966437 CAGE_peak_2_at_BAMBI_5end
chr10 28966443 28966461 CAGE_peak_1_at_BAMBI_5end
chr10 28966758 28966768 CAGE_peak_4_at_BAMBI_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I029594 29594520 29597542 0.43 [{'connected_gene': 'MIR604', 'score': 10.77}, {'connected_gene': 'RNU6-908P', 'score': 10.17}, {'connected_gene': 'SVIL', 'score': 10.01}, {'connected_gene': 'BAMBI', 'score': 4.85}, {'connected_gene': 'MIR938', 'score': 0.44}, {'connected_gene': 'ENSG00000212411', 'score': 0.34}]
chr10 GH10I028822 28822411 28823942 1.12 [{'connected_gene': 'C10orf126', 'score': 11.85}, {'connected_gene': 'BAMBI', 'score': 10.68}, {'connected_gene': 'RNU6-270P', 'score': 10.59}, {'connected_gene': 'ENSG00000271220', 'score': 7.85}, {'connected_gene': 'GC10M030003', 'score': 0.37}]
chr10 GH10I028087 28087643 28090986 0.9 [{'connected_gene': 'BAMBI', 'score': 5.1}, {'connected_gene': 'MASTL', 'score': 4.11}, {'connected_gene': 'MRPS21P5', 'score': 0.18}, {'connected_gene': 'MIR8086', 'score': 0.08}, {'connected_gene': 'MPP7', 'score': 0.07}]
chr10 GH10I028895 28895106 28895423 0.22 [{'connected_gene': 'BAMBI', 'score': 1.43}, {'connected_gene': 'RPL21P93', 'score': 0.77}, {'connected_gene': 'GC10M029999', 'score': 0.44}, {'connected_gene': 'RNA5SP308', 'score': 0.34}, {'connected_gene': 'GC10M029847', 'score': 0.34}]
chr10 GH10I028675 28675661 28682961 2.07 [{'connected_gene': 'BAMBI', 'score': 558.21}, {'connected_gene': 'WAC-AS1', 'score': 19.26}, {'connected_gene': 'RNU6-270P', 'score': 10.65}, {'connected_gene': 'LYZL1', 'score': 9.77}, {'connected_gene': 'WAC', 'score': 5.03}, {'connected_gene': 'LOC105376470', 'score': 0.31}]
chr10 GH10I028684 28684279 28685228 0.75 [{'connected_gene': 'BAMBI', 'score': 0.44}, {'connected_gene': 'LOC105376470', 'score': 0.34}]
chr10 GH10I028984 28984202 28984894 1.08 [{'connected_gene': 'BAMBI', 'score': 6.63}, {'connected_gene': 'GC10M029997', 'score': 0.37}, {'connected_gene': 'GC10M029999', 'score': 0.18}]
chr10 GH10I028975 28975605 28976654 0.64 [{'connected_gene': 'BAMBI', 'score': 6.67}, {'connected_gene': 'GC10M029997', 'score': 0.31}, {'connected_gene': 'GC10M029999', 'score': 0.19}]
chr10 GH10I028531 28531208 28535204 2.27 [{'connected_gene': 'WAC-AS1', 'score': 595.79}, {'connected_gene': 'WAC', 'score': 559.49}, {'connected_gene': 'BAMBI', 'score': 5.42}, {'connected_gene': 'PIR60646', 'score': 0.17}]
chr10 GH10I028518 28518940 28519378 0.43 [{'connected_gene': 'WAC-AS1', 'score': 54.29}, {'connected_gene': 'BAMBI', 'score': 6.43}, {'connected_gene': 'GC10M028522', 'score': 0.77}, {'connected_gene': 'GC10P028507', 'score': 0.39}]
chr10 GH10I028660 28660888 28661798 0.54 [{'connected_gene': 'WAC-AS1', 'score': 9.99}, {'connected_gene': 'BAMBI', 'score': 6.71}, {'connected_gene': 'GC10P028658', 'score': 0.77}, {'connected_gene': 'GC10P028668', 'score': 0.44}]
chr10 GH10I028704 28704290 28705352 0.31 [{'connected_gene': 'WAC-AS1', 'score': 18.25}, {'connected_gene': 'RNU6-270P', 'score': 11.15}, {'connected_gene': 'LYZL1', 'score': 10.08}, {'connected_gene': 'LOC105376470', 'score': 0.77}, {'connected_gene': 'BAMBI', 'score': 0.31}]
chr10 GH10I028685 28685272 28688105 0.8 [{'connected_gene': 'WAC-AS1', 'score': 18.51}, {'connected_gene': 'RNU6-270P', 'score': 11.1}, {'connected_gene': 'BAMBI', 'score': 0.44}, {'connected_gene': 'LOC105376470', 'score': 0.34}]
chr10 GH10I028905 28905945 28907503 0.84 [{'connected_gene': 'RNU6-270P', 'score': 10.36}, {'connected_gene': 'BAMBI', 'score': 1.99}, {'connected_gene': 'GC10M029999', 'score': 0.77}, {'connected_gene': 'GC10M029997', 'score': 0.15}]
chr10 GH10I028809 28809656 28811529 1.24 [{'connected_gene': 'ENSG00000271220', 'score': 27.5}, {'connected_gene': 'BAMBI', 'score': 13.22}, {'connected_gene': 'C10orf126', 'score': 11.72}, {'connected_gene': 'RNU6-270P', 'score': 11.34}, {'connected_gene': 'LYZL1', 'score': 10.22}, {'connected_gene': 'GC10M030003', 'score': 0.31}, {'connected_gene': 'PIRC48', 'score': 0.26}]
chr10 GH10I028805 28805883 28809504 1.36 [{'connected_gene': 'ENSG00000271220', 'score': 577.43}, {'connected_gene': 'BAMBI', 'score': 13.54}, {'connected_gene': 'RNU6-270P', 'score': 11.45}, {'connected_gene': 'C10orf126', 'score': 11.43}, {'connected_gene': 'LINC01517', 'score': 5.08}, {'connected_gene': 'GC10M030003', 'score': 0.29}, {'connected_gene': 'PIRC48', 'score': 0.28}]
chr10 GH10I028668 28668246 28669647 1.3 [{'connected_gene': 'GC10P028668', 'score': 550.77}, {'connected_gene': 'RNU6-1067P', 'score': 550.77}, {'connected_gene': 'WAC-AS1', 'score': 10.16}, {'connected_gene': 'BAMBI', 'score': 3.05}]
chr10 GH10I028800 28800204 28800848 0.31 [{'connected_gene': 'PIR51335', 'score': 550.77}, {'connected_gene': 'RNU6-270P', 'score': 11.37}, {'connected_gene': 'C10orf126', 'score': 10.99}, {'connected_gene': 'BAMBI', 'score': 7.15}, {'connected_gene': 'LINC00837', 'score': 0.77}, {'connected_gene': 'PIRC48', 'score': 0.29}, {'connected_gene': 'LINC01517', 'score': 0.22}]