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
ENST00000395159 [[58875211, 58875886], [58877560, 58877656], [58878624, 58878689], [58890725, 58890813], [58893771, 58893960], [58894109, 58894332]] [[58875751, 58875886], [58877560, 58877656], [58878624, 58878663]]
ENST00000216463 [[58875320, 58875886], [58877560, 58877656], [58890725, 58890813], [58893771, 58893960], [58894109, 58894245]] None
ENST00000555593 [[58875365, 58875886], [58877560, 58877656], [58878624, 58878689], [58894109, 58894223]] [[58875751, 58875886], [58877560, 58877656], [58878624, 58878663]]
ENST00000556007 [[58875381, 58875817], [58877560, 58877656], [58878624, 58878689], [58890725, 58890813], [58893771, 58893832]] [[58875751, 58875817], [58877560, 58877656], [58878624, 58878663]]
ENST00000557397 [[58875529, 58875886], [58877560, 58877656], [58893771, 58893889]] None
ENST00000555061 [[58875591, 58875886], [58877560, 58877656], [58878624, 58878831]] [[58875751, 58875886], [58877560, 58877656], [58878624, 58878663]]
ENST00000556367 [[58875597, 58875799], [58877560, 58877656], [58878624, 58878689], [58890725, 58890813], [58893771, 58893892]] None
ENST00000555930 [[58875696, 58875802], [58877560, 58877656], [58878624, 58878689], [58890725, 58890813], [58893771, 58893864]] None
ENST00000555404 [[58875751, 58875886], [58877560, 58877656], [58878624, 58878689], [58893771, 58893905]] [[58875751, 58875886], [58877560, 58877656], [58878624, 58878663]]
ENST00000555097 [[58877562, 58877656], [58878624, 58878689], [58890545, 58890567], [58890725, 58890813], [58893771, 58893879]] [[58877562, 58877656], [58878624, 58878663]]
NM_001304488 [[58875211, 58875817], [58877560, 58877656], [58878624, 58878689], [58890725, 58890813], [58893771, 58893960]] [[58875751, 58875817], [58877560, 58877656], [58878624, 58878663]]
NM_001304489 [[58875211, 58875802], [58877560, 58877656], [58878624, 58878689], [58890725, 58890813], [58893771, 58893960]] [[58875751, 58875802], [58877560, 58877656], [58878624, 58878663]]
NM_001304490 [[58875211, 58875799], [58877560, 58877656], [58878624, 58878689], [58890725, 58890813], [58893771, 58893960]] [[58875751, 58875799], [58877560, 58877656], [58878624, 58878663]]
NR_130751 [[58875211, 58875799], [58877560, 58877656], [58890725, 58890813], [58893771, 58893960]] None
NR_130753 [[58875211, 58875886], [58890725, 58890813], [58893771, 58893960]] None
NM_001304486 [[58875211, 58875886], [58877560, 58877656], [58878624, 58878689], [58893771, 58893960]] [[58875751, 58875886], [58877560, 58877656], [58878624, 58878663]]
NM_001304491 [[58875211, 58875799], [58877560, 58877656], [58878624, 58878689], [58893771, 58893960]] [[58875751, 58875799], [58877560, 58877656], [58878624, 58878663]]
NR_130752 [[58875211, 58875886], [58877560, 58877656], [58893771, 58893960]] None
NR_130750 [[58875211, 58875886], [58877560, 58877656], [58890725, 58890813], [58893771, 58893960], [58894109, 58894332]] None
NM_001304485 [[58875211, 58875886], [58877560, 58877656], [58878624, 58878689], [58890725, 58890813], [58894109, 58894332]] [[58875751, 58875886], [58877560, 58877656], [58878624, 58878663]]
NM_001304487 [[58875367, 58875886], [58877560, 58877656], [58878624, 58878689], [58894109, 58894332]] [[58875751, 58875886], [58877560, 58877656], [58878624, 58878663]]
NM_012460 [[58875369, 58875886], [58877560, 58877656], [58878624, 58878689], [58890725, 58890813], [58893771, 58893960], [58894109, 58894332]] [[58875751, 58875886], [58877560, 58877656], [58878624, 58878663]]
Promoter
Chrom Start End Description
chr14 58893852 58893865 CAGE_peak_2_at_TIMM9_5end
chr14 58893876 58893924 CAGE_peak_1_at_TIMM9_5end
chr14 58894228 58894261 CAGE_peak_3_at_TIMM9_5end
chr14 58894342 58894380 CAGE_peak_4_at_TIMM9_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr14 GH14I058426 58426145 58429744 2.3 [{'connected_gene': 'KIAA0586', 'score': 578.89}, {'connected_gene': 'TIMM9', 'score': 572.6}, {'connected_gene': 'GC14M058423', 'score': 550.77}, {'connected_gene': 'PSMA3-AS1', 'score': 31.23}, {'connected_gene': 'ENSG00000259969', 'score': 29.5}, {'connected_gene': 'ENSG00000258682', 'score': 28.75}, {'connected_gene': 'HMGB1P14', 'score': 22.92}, {'connected_gene': 'SLC35F4', 'score': 11.28}, {'connected_gene': 'ARID4A', 'score': 10.77}, {'connected_gene': 'RPL31P4', 'score': 10.61}, {'connected_gene': 'HNRNPCP1', 'score': 10.05}, {'connected_gene': 'RPL9P5', 'score': 6.16}, {'connected_gene': 'GC14P058442', 'score': 0.39}, {'connected_gene': 'ENSG00000258378', 'score': 0.31}, {'connected_gene': 'GC14P058345', 'score': 0.18}]
chr14 GH14I058425 58425401 58425600 0.2 [{'connected_gene': 'KIAA0586', 'score': 550.77}, {'connected_gene': 'GC14M058423', 'score': 550.77}, {'connected_gene': 'TIMM9', 'score': 0.77}, {'connected_gene': 'ENSG00000258378', 'score': 0.31}, {'connected_gene': 'GC14P058345', 'score': 0.18}]
chr14 GH14I058296 58296200 58300650 2.53 [{'connected_gene': 'PSMA3-AS1', 'score': 570.55}, {'connected_gene': 'ARID4A', 'score': 557.25}, {'connected_gene': 'C14orf37', 'score': 550.77}, {'connected_gene': 'KIAA0586', 'score': 25.08}, {'connected_gene': 'ENSG00000258682', 'score': 24.68}, {'connected_gene': 'TIMM9', 'score': 13.82}, {'connected_gene': 'TOMM20L', 'score': 10.77}, {'connected_gene': 'ACTR10', 'score': 6.46}, {'connected_gene': 'GC14P058345', 'score': 0.25}]
chr14 GH14I058430 58430190 58430518 0.94 [{'connected_gene': 'TIMM9', 'score': 0.77}, {'connected_gene': 'KIAA0586', 'score': 0.77}, {'connected_gene': 'GC14P058442', 'score': 0.39}, {'connected_gene': 'GC14P058345', 'score': 0.18}]
chr14 GH14I059160 59160993 59162656 1.29 [{'connected_gene': 'L3HYPDH', 'score': 20.44}, {'connected_gene': 'KIAA0586', 'score': 18.81}, {'connected_gene': 'GPR135', 'score': 13.0}, {'connected_gene': 'PCNX4', 'score': 11.72}, {'connected_gene': 'DAAM1', 'score': 11.45}, {'connected_gene': 'TIMM9', 'score': 11.27}, {'connected_gene': 'PPIAP5', 'score': 0.37}, {'connected_gene': 'AKR1B1P5', 'score': 0.31}]
chr14 GH14I058660 58659840 58660815 0.64 [{'connected_gene': 'ENSG00000258682', 'score': 46.03}, {'connected_gene': 'PSMA3-AS1', 'score': 44.64}, {'connected_gene': 'KIAA0586', 'score': 42.92}, {'connected_gene': 'HMGB1P14', 'score': 38.35}, {'connected_gene': 'L3HYPDH', 'score': 32.36}, {'connected_gene': 'ARID4A', 'score': 18.86}, {'connected_gene': 'GPR135', 'score': 13.41}, {'connected_gene': 'TIMM9', 'score': 11.67}, {'connected_gene': 'DACT1', 'score': 10.48}, {'connected_gene': 'JKAMP', 'score': 10.13}, {'connected_gene': 'HNRNPCP1', 'score': 10.01}, {'connected_gene': 'ENSG00000259969', 'score': 9.7}, {'connected_gene': 'GC14P058645', 'score': 0.37}, {'connected_gene': 'LOC102723725', 'score': 0.17}]

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