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
ENST00000606080 [[116252311, 116263788], [116264182, 116264348], [116265406, 116265588], [116277614, 116277773], [116288713, 116288882], [116289738, 116289902], [116325039, 116325161], [116381130, 116381921]] [[116263576, 116263788], [116264182, 116264348], [116265406, 116265588], [116277614, 116277773], [116288713, 116288882], [116289738, 116289902], [116325039, 116325161], [116381130, 116381474]]
ENST00000538210 [[116263564, 116263788], [116264182, 116264348], [116265406, 116265588], [116277614, 116277773], [116288713, 116288882], [116289738, 116289902], [116323847, 116323935]] [[116263576, 116263788], [116264182, 116264348], [116265406, 116265588], [116277614, 116277773], [116288713, 116288882], [116289738, 116289902], [116323847, 116323887]]
NM_002031 [[116262692, 116263788], [116264182, 116264348], [116265406, 116265588], [116277614, 116277773], [116288713, 116288882], [116289738, 116289902], [116325039, 116325161], [116381130, 116381921]] [[116263576, 116263788], [116264182, 116264348], [116265406, 116265588], [116277614, 116277773], [116288713, 116288882], [116289738, 116289902], [116325039, 116325161], [116381130, 116381474]]
Promoter
Chrom Start End Description
chr6 116381918 116381977 CAGE_peak_1_at_FRK_5end
chr6 116381992 116382006 CAGE_peak_3_at_FRK_5end
chr6 116382022 116382062 CAGE_peak_2_at_FRK_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I116369 116369458 116375327 2.13 [{'connected_gene': 'DSE', 'score': 576.69}, {'connected_gene': 'CALHM4', 'score': 11.17}, {'connected_gene': 'ENSG00000234117', 'score': 11.02}, {'connected_gene': 'ENSG00000240050', 'score': 8.7}, {'connected_gene': 'TSPYL4', 'score': 6.31}, {'connected_gene': 'FRK', 'score': 4.76}, {'connected_gene': 'RSPH4A', 'score': 4.29}, {'connected_gene': 'PIR33476', 'score': 0.77}, {'connected_gene': 'PIR34878', 'score': 0.21}]
chr6 GH06I116023 116023902 116023978 0.22 [{'connected_gene': 'FRK', 'score': 30.6}, {'connected_gene': 'TPI1P3', 'score': 0.39}, {'connected_gene': 'PIR54414', 'score': 0.25}]
chr6 GH06I116019 116019598 116019747 0.69 [{'connected_gene': 'FRK', 'score': 10.93}, {'connected_gene': 'TPI1P3', 'score': 0.37}, {'connected_gene': 'PIR54414', 'score': 0.26}]
chr6 GH06I116034 116034001 116034200 0.38 [{'connected_gene': 'FRK', 'score': 31.9}, {'connected_gene': 'TPI1P3', 'score': 0.77}, {'connected_gene': 'PIR54414', 'score': 0.22}]
chr6 GH06I116010 116010898 116013945 1.09 [{'connected_gene': 'FRK', 'score': 17.85}, {'connected_gene': 'TPI1P3', 'score': 0.31}, {'connected_gene': 'PIR54414', 'score': 0.29}]
chr6 GH06I116008 116008139 116009713 0.85 [{'connected_gene': 'FRK', 'score': 17.75}, {'connected_gene': 'TPI1P3', 'score': 0.31}, {'connected_gene': 'PIR54414', 'score': 0.29}]
chr6 GH06I116015 116015111 116018403 0.94 [{'connected_gene': 'FRK', 'score': 28.85}, {'connected_gene': 'NT5DC1', 'score': 16.42}, {'connected_gene': 'CALHM6', 'score': 5.81}, {'connected_gene': 'TPI1P3', 'score': 0.34}, {'connected_gene': 'PIR54414', 'score': 0.28}]
chr6 GH06I115947 115947503 115949139 0.62 [{'connected_gene': 'FRK', 'score': 11.43}, {'connected_gene': 'NT5DC1', 'score': 4.75}, {'connected_gene': 'GC06P115977', 'score': 0.31}, {'connected_gene': 'PIR60846', 'score': 0.08}]
chr6 GH06I116058 116058901 116062227 2.11 [{'connected_gene': 'FRK', 'score': 569.54}, {'connected_gene': 'NT5DC1', 'score': 6.52}, {'connected_gene': 'GC06M116052', 'score': 0.77}, {'connected_gene': 'GC06M116078', 'score': 0.37}]
chr6 GH06I116086 116086978 116088310 0.75 [{'connected_gene': 'FRK', 'score': 13.22}, {'connected_gene': 'NT5DC1', 'score': 9.77}, {'connected_gene': 'GC06M116078', 'score': 0.44}]
chr6 GH06I115890 115890610 115892152 0.69 [{'connected_gene': 'FRK', 'score': 8.69}, {'connected_gene': 'GC06P115977', 'score': 0.17}, {'connected_gene': 'PIR60846', 'score': 0.1}]
chr6 GH06I115882 115882277 115882426 0.54 [{'connected_gene': 'FRK', 'score': 8.67}, {'connected_gene': 'GC06P115977', 'score': 0.16}, {'connected_gene': 'PIR60846', 'score': 0.1}]
chr6 GH06I116098 116098293 116103007 2.27 [{'connected_gene': 'NT5DC1', 'score': 564.45}, {'connected_gene': 'FRK', 'score': 550.77}, {'connected_gene': 'KPNA5', 'score': 43.72}, {'connected_gene': 'COL10A1', 'score': 11.09}, {'connected_gene': 'TSPYL4', 'score': 9.63}, {'connected_gene': 'GC06M116078', 'score': 0.34}]
chr6 GH06I116005 116005192 116005933 0.2 [{'connected_gene': 'PIR54414', 'score': 0.31}, {'connected_gene': 'TPI1P3', 'score': 0.29}, {'connected_gene': 'FRK', 'score': 0.15}]
chr6 GH06I115982 115982598 115982747 0.69 [{'connected_gene': 'PIR54414', 'score': 0.44}, {'connected_gene': 'TPI1P3', 'score': 0.22}, {'connected_gene': 'FRK', 'score': 0.13}]
chr6 GH06I116071 116071138 116071247 0.7 [{'connected_gene': 'GC06M116078', 'score': 0.44}, {'connected_gene': 'GC06M116052', 'score': 0.39}, {'connected_gene': 'FRK', 'score': 0.31}]
chr6 GH06I116074 116074138 116074307 0.75 [{'connected_gene': 'GC06M116078', 'score': 0.44}, {'connected_gene': 'GC06M116052', 'score': 0.37}, {'connected_gene': 'FRK', 'score': 0.31}]