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
ENST00000295113 [[183698001, 183699692], [183702675, 183702739], [183703136, 183703341], [183707205, 183707271], [183723513, 183723561], [183730802, 183731890]] [[183699575, 183699692], [183702675, 183702739], [183703136, 183703341], [183707205, 183707271], [183723513, 183723561], [183730802, 183731280]]
NM_001463 [[183698001, 183699692], [183702675, 183702739], [183703136, 183703341], [183707205, 183707271], [183723513, 183723561], [183730802, 183731498]] [[183699575, 183699692], [183702675, 183702739], [183703136, 183703341], [183707205, 183707271], [183723513, 183723561], [183730802, 183731280]]
Promoter
Chrom Start End Description
chr2 183730840 183730851 CAGE_peak_7_at_FRZB_5end
chr2 183731285 183731309 CAGE_peak_2_at_FRZB_5end
chr2 183731311 183731323 CAGE_peak_5_at_FRZB_5end
chr2 183731332 183731352 CAGE_peak_4_at_FRZB_5end
chr2 183731355 183731384 CAGE_peak_3_at_FRZB_5end
chr2 183731495 183731507 CAGE_peak_6_at_FRZB_5end
chr2 183731882 183731896 CAGE_peak_1_at_FRZB_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I182714 182714696 182718639 2.07 [{'connected_gene': 'DNAJC10', 'score': 550.77}, {'connected_gene': 'NCKAP1', 'score': 13.08}, {'connected_gene': 'NUP35', 'score': 10.54}, {'connected_gene': 'PDE1A', 'score': 10.03}, {'connected_gene': 'FRZB', 'score': 7.0}, {'connected_gene': 'GC02P182762', 'score': 0.25}]
chr2 GH02I182866 182866020 182868679 1.74 [{'connected_gene': 'FRZB', 'score': 571.9}, {'connected_gene': 'DUSP19', 'score': 5.16}, {'connected_gene': 'GC02P182874', 'score': 0.44}]
chr2 GH02I182906 182906913 182907958 0.68 [{'connected_gene': 'FRZB', 'score': 17.92}, {'connected_gene': 'NCKAP1', 'score': 4.71}, {'connected_gene': 'GC02M182883', 'score': 0.77}, {'connected_gene': 'RNU6-1122P', 'score': 0.29}]
chr2 GH02I182914 182914555 182916694 0.83 [{'connected_gene': 'FRZB', 'score': 10.95}, {'connected_gene': 'NCKAP1', 'score': 4.68}, {'connected_gene': 'GC02M182883', 'score': 0.77}, {'connected_gene': 'GC02M183023', 'score': 0.14}, {'connected_gene': 'ENSG00000202141', 'score': 0.14}]
chr2 GH02I182948 182948862 182950453 0.9 [{'connected_gene': 'FRZB', 'score': 7.02}, {'connected_gene': 'GC02M182883', 'score': 0.28}, {'connected_gene': 'GC02M183023', 'score': 0.19}, {'connected_gene': 'ENSG00000202141', 'score': 0.19}, {'connected_gene': 'NCKAP1', 'score': 0.17}]
chr2 GH02I183010 183010104 183010962 1.12 [{'connected_gene': 'FRZB', 'score': 8.86}, {'connected_gene': 'GC02M183023', 'score': 0.39}, {'connected_gene': 'ENSG00000202141', 'score': 0.39}, {'connected_gene': 'NCKAP1', 'score': 0.31}, {'connected_gene': 'GC02M182883', 'score': 0.15}]
chr2 GH02I183056 183056503 183059010 0.62 [{'connected_gene': 'FRZB', 'score': 10.29}, {'connected_gene': 'NCKAP1', 'score': 4.73}, {'connected_gene': 'GC02P183062', 'score': 0.77}]
chr2 GH02I183019 183019540 183020482 0.2 [{'connected_gene': 'FRZB', 'score': 10.11}, {'connected_gene': 'GC02M183023', 'score': 0.77}, {'connected_gene': 'ENSG00000202141', 'score': 0.77}, {'connected_gene': 'NCKAP1', 'score': 0.37}, {'connected_gene': 'GC02M182883', 'score': 0.14}]
chr2 GH02I183048 183048135 183050969 0.43 [{'connected_gene': 'FRZB', 'score': 7.92}, {'connected_gene': 'NCKAP1', 'score': 5.15}, {'connected_gene': 'GC02P183062', 'score': 0.39}]
chr2 GH02I182889 182889920 182892305 0.8 [{'connected_gene': 'FRZB', 'score': 31.6}, {'connected_gene': 'RNU6-1122P', 'score': 0.37}, {'connected_gene': 'GC02M182883', 'score': 0.34}]
chr2 GH02I182672 182672322 182673532 0.57 [{'connected_gene': 'FRZB', 'score': 4.89}, {'connected_gene': 'PIR54634', 'score': 0.37}, {'connected_gene': 'LOC101929976', 'score': 0.26}]
chr2 GH02I182824 182824534 182824683 0.38 [{'connected_gene': 'FRZB', 'score': 10.25}, {'connected_gene': 'ENSG00000212404', 'score': 0.77}, {'connected_gene': 'GC02P182790', 'score': 0.28}]
chr2 GH02I182818 182818207 182820277 0.66 [{'connected_gene': 'FRZB', 'score': 10.74}, {'connected_gene': 'ENSG00000212404', 'score': 0.44}, {'connected_gene': 'GC02P182790', 'score': 0.31}]
chr2 GH02I183078 183078001 183080049 2.03 [{'connected_gene': 'DUSP19', 'score': 558.04}, {'connected_gene': 'NCKAP1', 'score': 11.35}, {'connected_gene': 'NUP35', 'score': 11.3}, {'connected_gene': 'ENSG00000224643', 'score': 10.83}, {'connected_gene': 'FRZB', 'score': 6.0}]
chr2 GH02I183034 183034790 183039545 2.04 [{'connected_gene': 'NCKAP1', 'score': 555.34}, {'connected_gene': 'NUP35', 'score': 26.3}, {'connected_gene': 'DNAJC10', 'score': 10.58}, {'connected_gene': 'FRZB', 'score': 9.64}, {'connected_gene': 'GC02M183023', 'score': 0.39}, {'connected_gene': 'ENSG00000202141', 'score': 0.39}]
chr2 GH02I182713 182713401 182714097 0.54 [{'connected_gene': 'LOC101929976', 'score': 550.77}, {'connected_gene': 'FRZB', 'score': 8.2}, {'connected_gene': 'PIR54634', 'score': 0.22}]
chr2 GH02I183059 183059371 183061412 0.98 [{'connected_gene': 'GC02P183062', 'score': 550.77}, {'connected_gene': 'FRZB', 'score': 8.07}, {'connected_gene': 'NCKAP1', 'score': 4.92}]