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
ENST00000317802 [[54480314, 54483409]] [[54482055, 54483288]]
NM_001003937 [[54480314, 54483409]] [[54482055, 54483288]]
Promoter
Chrom Start End Description
chr2 54483339 54483348 CAGE_peak_2_at_TSPYL6_5end
chr2 54483352 54483376 CAGE_peak_1_at_TSPYL6_5end
chr2 54483384 54483393 CAGE_peak_3_at_TSPYL6_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I054046 54046804 54048100 0.66 [{'connected_gene': 'ACYP2', 'score': 24.13}, {'connected_gene': 'TSPYL6', 'score': 9.65}, {'connected_gene': 'HMGB1P31', 'score': 0.77}, {'connected_gene': 'RPL21P30', 'score': 0.37}]
chr2 GH02I054041 54041828 54045458 1.57 [{'connected_gene': 'ACYP2', 'score': 31.81}, {'connected_gene': 'RNU7-172P', 'score': 10.1}, {'connected_gene': 'EML6', 'score': 9.83}, {'connected_gene': 'TSPYL6', 'score': 9.65}, {'connected_gene': 'HMGB1P31', 'score': 7.15}, {'connected_gene': 'GPR75', 'score': 3.76}, {'connected_gene': 'RPL21P30', 'score': 0.39}]
chr2 GH02I054272 54272000 54272389 0.59 [{'connected_gene': 'ACYP2', 'score': 6.3}, {'connected_gene': 'LOC105374610', 'score': 0.44}, {'connected_gene': 'TSPYL6', 'score': 0.37}]
chr2 GH02I054486 54486621 54495411 0.71 [{'connected_gene': 'SPTBN1', 'score': 26.27}, {'connected_gene': 'EML6', 'score': 21.93}, {'connected_gene': 'LOC105374667', 'score': 14.11}, {'connected_gene': 'TSPYL6', 'score': 10.84}, {'connected_gene': 'RNU7-172P', 'score': 10.54}, {'connected_gene': 'ACYP2', 'score': 10.3}, {'connected_gene': 'C2orf73', 'score': 10.16}, {'connected_gene': 'RNU7-81P', 'score': 10.13}, {'connected_gene': 'PRORSD1P', 'score': 5.06}, {'connected_gene': 'GC02M054483', 'score': 0.44}, {'connected_gene': 'GC02P054516', 'score': 0.31}]
chr2 GH02I054335 54335708 54337597 0.38 [{'connected_gene': 'SPTBN1', 'score': 11.3}, {'connected_gene': 'TSPYL6', 'score': 10.53}, {'connected_gene': 'ACYP2', 'score': 10.08}, {'connected_gene': 'RNU7-172P', 'score': 9.85}, {'connected_gene': 'C2orf73', 'score': 8.12}, {'connected_gene': 'GC02P054340', 'score': 0.77}]
chr2 GH02I054482 54482158 54484577 0.96 [{'connected_gene': 'SPTBN1', 'score': 25.72}, {'connected_gene': 'TSPYL6', 'score': 10.84}, {'connected_gene': 'RNU7-172P', 'score': 10.54}, {'connected_gene': 'PRORSD1P', 'score': 5.03}, {'connected_gene': 'GC02M054483', 'score': 0.77}, {'connected_gene': 'GC02P054478', 'score': 0.77}]
chr2 GH02I054465 54465758 54466360 0.2 [{'connected_gene': 'SPTBN1', 'score': 11.99}, {'connected_gene': 'C2orf73', 'score': 11.26}, {'connected_gene': 'TSPYL6', 'score': 10.0}, {'connected_gene': 'GC02P054478', 'score': 0.39}]
chr2 GH02I054509 54509620 54511877 0.2 [{'connected_gene': 'EML6', 'score': 14.78}, {'connected_gene': 'SPTBN1', 'score': 11.09}, {'connected_gene': 'ACYP2', 'score': 11.01}, {'connected_gene': 'TSPYL6', 'score': 10.35}, {'connected_gene': 'C2orf73', 'score': 10.18}, {'connected_gene': 'GC02P054516', 'score': 0.44}, {'connected_gene': 'GC02M054483', 'score': 0.34}]
chr2 GH02I054290 54290101 54291228 0.2 [{'connected_gene': 'TSPYL6', 'score': 21.15}, {'connected_gene': 'ACYP2', 'score': 15.55}, {'connected_gene': 'C2orf73', 'score': 11.17}, {'connected_gene': 'ENSG00000272156', 'score': 5.69}, {'connected_gene': 'GC02P054297', 'score': 0.44}, {'connected_gene': 'GC02P054285', 'score': 0.44}]
chr2 GH02I054256 54256219 54256278 1.08 [{'connected_gene': 'TSPYL6', 'score': 550.77}, {'connected_gene': 'GC02P054224', 'score': 0.29}, {'connected_gene': 'ACYP2', 'score': 0.06}]
chr2 GH02I054207 54207211 54209342 1.12 [{'connected_gene': 'TSPYL6', 'score': 19.82}, {'connected_gene': 'SPTBN1', 'score': 10.95}, {'connected_gene': 'RNU7-172P', 'score': 10.91}, {'connected_gene': 'C2orf73', 'score': 10.2}, {'connected_gene': 'ACYP2', 'score': 6.77}, {'connected_gene': 'GC02M054187', 'score': 0.44}, {'connected_gene': 'GC02M054119', 'score': 0.31}]
chr2 GH02I054212 54212084 54213217 0.63 [{'connected_gene': 'TSPYL6', 'score': 20.04}, {'connected_gene': 'RNU7-172P', 'score': 10.63}, {'connected_gene': 'ACYP2', 'score': 10.62}, {'connected_gene': 'C2orf73', 'score': 10.4}, {'connected_gene': 'GC02M054187', 'score': 0.44}, {'connected_gene': 'GC02M054119', 'score': 0.29}]
chr2 GH02I054226 54226250 54226818 0.52 [{'connected_gene': 'TSPYL6', 'score': 12.06}, {'connected_gene': 'RNU7-172P', 'score': 10.28}, {'connected_gene': 'ACYP2', 'score': 8.41}, {'connected_gene': 'GC02P054224', 'score': 0.77}]
chr2 GH02I054238 54238892 54241191 0.49 [{'connected_gene': 'TSPYL6', 'score': 44.1}, {'connected_gene': 'RNU7-172P', 'score': 10.68}, {'connected_gene': 'C2orf73', 'score': 10.32}, {'connected_gene': 'ACYP2', 'score': 7.24}, {'connected_gene': 'GC02P054224', 'score': 0.37}]
chr2 GH02I054274 54274331 54275600 0.78 [{'connected_gene': 'C2orf73', 'score': 15.48}, {'connected_gene': 'ACYP2', 'score': 14.77}, {'connected_gene': 'LOC105374610', 'score': 0.77}, {'connected_gene': 'TSPYL6', 'score': 0.37}]
chr2 GH02I054463 54463401 54463600 0.4 [{'connected_gene': 'C2orf73', 'score': 11.26}, {'connected_gene': 'SPTBN1', 'score': 10.91}, {'connected_gene': 'TSPYL6', 'score': 10.0}, {'connected_gene': 'EML6', 'score': 8.08}, {'connected_gene': 'GC02P054478', 'score': 0.37}]
chr2 GH02I054460 54460040 54461652 0.69 [{'connected_gene': 'C2orf73', 'score': 11.26}, {'connected_gene': 'SPTBN1', 'score': 10.04}, {'connected_gene': 'TSPYL6', 'score': 10.0}, {'connected_gene': 'EML6', 'score': 9.38}, {'connected_gene': 'GC02P054478', 'score': 0.37}]
chr2 GH02I054464 54464801 54465400 0.4 [{'connected_gene': 'C2orf73', 'score': 11.26}, {'connected_gene': 'TSPYL6', 'score': 10.0}, {'connected_gene': 'SPTBN1', 'score': 0.44}, {'connected_gene': 'GC02P054478', 'score': 0.39}]
chr2 GH02I054121 54121092 54124106 1 [{'connected_gene': 'RNU7-172P', 'score': 11.01}, {'connected_gene': 'TSPYL6', 'score': 10.18}, {'connected_gene': 'ENSG00000272156', 'score': 6.37}, {'connected_gene': 'HMGB1P31', 'score': 6.08}, {'connected_gene': 'ACYP2', 'score': 5.12}, {'connected_gene': 'LOC105374615', 'score': 0.37}, {'connected_gene': 'GC02M054119', 'score': 0.22}]
chr2 GH02I054241 54241204 54241307 0.2 [{'connected_gene': 'RNU7-172P', 'score': 10.68}, {'connected_gene': 'C2orf73', 'score': 10.32}, {'connected_gene': 'TSPYL6', 'score': 0.37}, {'connected_gene': 'GC02P054224', 'score': 0.37}, {'connected_gene': 'ACYP2', 'score': 0.06}]
chr2 GH02I054750 54750427 54750574 0.33 [{'connected_gene': 'LOC105374667', 'score': 550.77}, {'connected_gene': 'TSPYL6', 'score': 14.12}, {'connected_gene': 'EML6', 'score': 10.75}, {'connected_gene': 'C2orf73', 'score': 10.43}, {'connected_gene': 'GC02M054734', 'score': 0.39}]
chr2 GH02I054434 54434192 54435412 0.51 [{'connected_gene': 'LOC102724072', 'score': 550.77}, {'connected_gene': 'C2orf73', 'score': 10.35}, {'connected_gene': 'TSPYL6', 'score': 10.1}, {'connected_gene': 'RNU7-172P', 'score': 10.07}, {'connected_gene': 'SPTBN1', 'score': 0.34}]
chr2 GH02I054435 54435557 54436242 0.2 [{'connected_gene': 'LOC102724072', 'score': 550.77}, {'connected_gene': 'C2orf73', 'score': 10.35}, {'connected_gene': 'TSPYL6', 'score': 10.1}, {'connected_gene': 'RNU7-172P', 'score': 10.07}, {'connected_gene': 'SPTBN1', 'score': 0.34}]