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
ENST00000367460 [[192127586, 192127886], [192128349, 192128451], [192129507, 192129569], [192150421, 192150588], [192153426, 192154945]] [[192127767, 192127886], [192128349, 192128451], [192129507, 192129569], [192150421, 192150588], [192153426, 192153684]]
ENST00000481707 [[192127614, 192127656], [192127760, 192127886], [192128349, 192128451], [192129507, 192129569], [192130582, 192130617], [192132409, 192132786]] None
ENST00000492967 [[192127643, 192127886], [192128349, 192128451], [192129507, 192129569], [192130582, 192130617], [192150421, 192150584]] None
ENST00000491030 [[192127805, 192127886], [192128349, 192128451], [192129507, 192129813]] None
NM_130782 [[192127591, 192127886], [192128349, 192128451], [192129507, 192129569], [192150421, 192150588], [192153426, 192154945]] [[192127767, 192127886], [192128349, 192128451], [192129507, 192129569], [192150421, 192150588], [192153426, 192153684]]
Promoter
Chrom Start End Description
chr1 192127472 192127475 CAGE_peak_3_at_RGS18_5end
chr1 192127578 192127613 CAGE_peak_1_at_RGS18_5end
chr1 192127639 192127652 CAGE_peak_2_at_RGS18_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I192699 192699716 192703279 1.1 [{'connected_gene': 'RGS13', 'score': 10.07}, {'connected_gene': 'RGS2', 'score': 6.06}, {'connected_gene': 'RPS27AP5', 'score': 0.39}]
chr1 GH01I192639 192639116 192641080 1.11 [{'connected_gene': 'RGS13', 'score': 27.05}, {'connected_gene': 'RGS1', 'score': 2.95}, {'connected_gene': 'RGS2', 'score': 1.35}, {'connected_gene': 'RPS27AP5', 'score': 0.18}]
chr1 GH01I192866 192866311 192866553 0.22 [{'connected_gene': 'RGS13', 'score': 14.1}, {'connected_gene': 'RGS1', 'score': 1.68}, {'connected_gene': 'RN7SKP126', 'score': 0.44}, {'connected_gene': 'LOC105371667', 'score': 0.39}, {'connected_gene': 'GC01P192837', 'score': 0.31}]
chr1 GH01I192614 192614337 192614348 0.39 [{'connected_gene': 'RGS13', 'score': 11.41}, {'connected_gene': 'RGS1', 'score': 1.43}, {'connected_gene': 'LOC105371664', 'score': 0.39}, {'connected_gene': 'GC01P192596', 'score': 0.37}]
chr1 GH01I192763 192763627 192764317 0.71 [{'connected_gene': 'RGS13', 'score': 7.76}, {'connected_gene': 'LOC105371665', 'score': 0.31}, {'connected_gene': 'MIR4426', 'score': 0.25}]
chr1 GH01I192611 192610211 192610360 0.69 [{'connected_gene': 'RGS13', 'score': 11.38}, {'connected_gene': 'GC01P192596', 'score': 0.39}, {'connected_gene': 'LOC105371664', 'score': 0.37}]
chr1 GH01I192610 192610671 192610820 0.69 [{'connected_gene': 'RGS13', 'score': 11.38}, {'connected_gene': 'GC01P192596', 'score': 0.39}, {'connected_gene': 'LOC105371664', 'score': 0.37}]
chr1 GH01I192173 192173201 192173600 0.2 [{'connected_gene': 'RGS18', 'score': 0.39}, {'connected_gene': 'LOC105371662', 'score': 0.2}, {'connected_gene': 'GC01P191982', 'score': 0.08}]
chr1 GH01I192160 192160201 192163200 0.46 [{'connected_gene': 'RGS18', 'score': 4.99}, {'connected_gene': 'LOC105371662', 'score': 0.18}, {'connected_gene': 'GC01P191982', 'score': 0.1}]
chr1 GH01I192157 192157629 192159643 1.54 [{'connected_gene': 'RGS18', 'score': 554.93}, {'connected_gene': 'LOC105371662', 'score': 0.18}, {'connected_gene': 'GC01P191982', 'score': 0.1}]
chr1 GH01I192168 192168000 192168400 0.2 [{'connected_gene': 'RGS18', 'score': 4.75}, {'connected_gene': 'LOC105371662', 'score': 0.19}, {'connected_gene': 'GC01P191982', 'score': 0.09}]
chr1 GH01I192146 192146504 192148942 0.43 [{'connected_gene': 'RGS18', 'score': 0.39}, {'connected_gene': 'LOC105371661', 'score': 0.26}, {'connected_gene': 'GC01P191982', 'score': 0.1}]
chr1 GH01I192133 192133271 192133848 0.38 [{'connected_gene': 'RGS18', 'score': 16.81}, {'connected_gene': 'LOC105371661', 'score': 0.31}, {'connected_gene': 'GC01P191982', 'score': 0.1}]
chr1 GH01I192123 192123176 192124893 0.8 [{'connected_gene': 'RGS18', 'score': 5.11}, {'connected_gene': 'LOC105371661', 'score': 0.37}, {'connected_gene': 'GC01P191982', 'score': 0.11}]
chr1 GH01I192636 192636109 192636168 0.61 [{'connected_gene': 'RGS13', 'score': 550.77}, {'connected_gene': 'RPS27AP5', 'score': 0.18}]
chr1 GH01I192608 192608734 192610052 1.55 [{'connected_gene': 'RGS1', 'score': 14.1}, {'connected_gene': 'RGS13', 'score': 11.38}, {'connected_gene': 'TROVE2', 'score': 2.16}, {'connected_gene': 'RGS2', 'score': 1.77}, {'connected_gene': 'GC01P192596', 'score': 0.39}, {'connected_gene': 'LOC105371664', 'score': 0.37}]
chr1 GH01I192488 192488620 192490797 1.1 [{'connected_gene': 'RGS1', 'score': 3.59}, {'connected_gene': 'RGS13', 'score': 1.68}, {'connected_gene': 'RGS2', 'score': 1.24}, {'connected_gene': 'ENSG00000236069', 'score': 0.28}, {'connected_gene': 'GC01P192448', 'score': 0.26}]
chr1 GH01I192605 192605050 192605364 1.23 [{'connected_gene': 'RGS1', 'score': 20.76}, {'connected_gene': 'LOC105371664', 'score': 11.29}, {'connected_gene': 'RGS13', 'score': 10.46}, {'connected_gene': 'TROVE2', 'score': 1.83}, {'connected_gene': 'RGS2', 'score': 1.77}, {'connected_gene': 'GC01P192596', 'score': 0.44}]
chr1 GH01I192591 192591756 192593262 0.2 [{'connected_gene': 'LOC105371664', 'score': 10.95}, {'connected_gene': 'RGS13', 'score': 10.4}, {'connected_gene': 'GC01P192596', 'score': 0.77}, {'connected_gene': 'RGS1', 'score': 0.37}]
chr1 GH01I192628 192628457 192628657 0.41 [{'connected_gene': 'LOC105371664', 'score': 550.77}, {'connected_gene': 'RGS13', 'score': 12.26}, {'connected_gene': 'RGS1', 'score': 1.85}, {'connected_gene': 'GC01P192596', 'score': 0.29}]
chr1 GH01I192225 192225503 192226396 0.54 [{'connected_gene': 'LOC105371662', 'score': 0.39}, {'connected_gene': 'RGS18', 'score': 0.2}, {'connected_gene': 'GC01P191982', 'score': 0.07}]
chr1 GH01I192169 192168748 192171655 1.1 [{'connected_gene': 'ENSG00000231767', 'score': 12.49}, {'connected_gene': 'TROVE2', 'score': 10.49}, {'connected_gene': 'ZNF101P2', 'score': 9.71}, {'connected_gene': 'RGS18', 'score': 2.4}, {'connected_gene': 'LOC105371662', 'score': 0.2}, {'connected_gene': 'GC01P191982', 'score': 0.09}]
chr1 GH01I192247 192247319 192247446 0.24 [{'connected_gene': 'ENSG00000236792', 'score': 550.77}, {'connected_gene': 'LOC647150', 'score': 550.77}, {'connected_gene': 'RGS18', 'score': 4.8}, {'connected_gene': 'LOC105371662', 'score': 0.44}, {'connected_gene': 'GC01P191982', 'score': 0.06}]
chr1 GH01I192594 192594982 192596765 0.2 [{'connected_gene': 'GC01P192596', 'score': 550.77}, {'connected_gene': 'LOC105371664', 'score': 11.43}, {'connected_gene': 'RGS1', 'score': 11.32}, {'connected_gene': 'RGS13', 'score': 10.4}]