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
ENST00000370456 [[89829616, 89829686], [89834087, 89834300], [89835104, 89835232], [89843661, 89843771], [89843975, 89844172], [89845944, 89846190], [89847252, 89847533], [89848222, 89848435], [89849210, 89849313], [89849651, 89849845], [89850788, 89852020]] [[89834110, 89834300], [89835104, 89835232], [89843661, 89843771], [89843975, 89844172], [89845944, 89846190], [89847252, 89847533], [89848222, 89848435], [89849210, 89849313], [89849651, 89849845], [89850788, 89851028]]
ENST00000535065 [[89829618, 89829686], [89843661, 89843771], [89843975, 89844172], [89845944, 89846190], [89847252, 89847533], [89848222, 89848435], [89849210, 89849313], [89849651, 89849845], [89850788, 89851446]] [[89843733, 89843771], [89843975, 89844172], [89845944, 89846190], [89847252, 89847533], [89848222, 89848435], [89849210, 89849313], [89849651, 89849845], [89850788, 89851028]]
NM_001320257 [[89829435, 89829686], [89843661, 89843771], [89843975, 89844172], [89845944, 89846190], [89847252, 89847533], [89848222, 89848435], [89849210, 89849313], [89849651, 89849845], [89850788, 89853719]] [[89843733, 89843771], [89843975, 89844172], [89845944, 89846190], [89847252, 89847533], [89848222, 89848435], [89849210, 89849313], [89849651, 89849845], [89850788, 89851028]]
NM_198460 [[89829435, 89829686], [89834087, 89834300], [89835104, 89835232], [89843661, 89843771], [89843975, 89844172], [89845944, 89846190], [89847252, 89847533], [89848222, 89848435], [89849210, 89849313], [89849651, 89849845], [89850788, 89853719]] [[89834110, 89834300], [89835104, 89835232], [89843661, 89843771], [89843975, 89844172], [89845944, 89846190], [89847252, 89847533], [89848222, 89848435], [89849210, 89849313], [89849651, 89849845], [89850788, 89851028]]
Promoter
Chrom Start End Description
chr1 89829425 89829479 CAGE_peak_2_at_GBP6_5end
chr1 89829517 89829537 CAGE_peak_3_at_GBP6_5end
chr1 89829610 89829627 CAGE_peak_1_at_GBP6_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I089451 89451099 89451248 0.52 [{'connected_gene': 'LRRC8C', 'score': 17.31}, {'connected_gene': 'GBP6', 'score': 11.08}, {'connected_gene': 'GBP3', 'score': 9.36}, {'connected_gene': 'GBP2', 'score': 6.71}, {'connected_gene': 'GBP4', 'score': 2.81}, {'connected_gene': 'GBP1', 'score': 2.36}, {'connected_gene': 'LRRC8B', 'score': 1.81}, {'connected_gene': 'GC01M089463', 'score': 0.37}, {'connected_gene': 'PIR33822', 'score': 0.34}]
chr1 GH01I088990 88990547 88994566 2.49 [{'connected_gene': 'KYAT3', 'score': 550.77}, {'connected_gene': 'RBMXL1', 'score': 550.77}, {'connected_gene': 'GBP3', 'score': 86.11}, {'connected_gene': 'GBP5', 'score': 10.91}, {'connected_gene': 'GBP6', 'score': 10.8}, {'connected_gene': 'GBP7', 'score': 5.12}, {'connected_gene': 'PTGES3P1', 'score': 4.75}, {'connected_gene': 'GC01M088952', 'score': 0.28}]
chr1 GH01I089101 89101446 89102833 0.2 [{'connected_gene': 'GBP3', 'score': 20.25}, {'connected_gene': 'GBP6', 'score': 10.7}, {'connected_gene': 'PTGES3P1', 'score': 4.94}, {'connected_gene': 'GC01M089104', 'score': 0.77}, {'connected_gene': 'GBP1', 'score': 0.28}, {'connected_gene': 'LOC105378841', 'score': 0.2}]
chr1 GH01I089020 89020988 89023716 1.96 [{'connected_gene': 'GBP3', 'score': 562.66}, {'connected_gene': 'GC01M089021', 'score': 550.77}, {'connected_gene': 'ENSG00000202385', 'score': 550.77}, {'connected_gene': 'GBP6', 'score': 10.58}, {'connected_gene': 'GBP5', 'score': 10.22}, {'connected_gene': 'PKN2', 'score': 10.0}, {'connected_gene': 'GBP1', 'score': 5.1}]
chr1 GH01I089103 89103031 89110672 0.56 [{'connected_gene': 'PTGES3P1', 'score': 556.21}, {'connected_gene': 'GBP7', 'score': 35.74}, {'connected_gene': 'GBP3', 'score': 23.45}, {'connected_gene': 'GBP6', 'score': 10.7}, {'connected_gene': 'LOC100421401', 'score': 10.26}, {'connected_gene': 'GBP5', 'score': 10.21}, {'connected_gene': 'GC01M089104', 'score': 0.77}, {'connected_gene': 'LOC105378842', 'score': 0.34}, {'connected_gene': 'GBP2', 'score': 0.26}]
chr1 GH01I089354 89354201 89354600 0.66 [{'connected_gene': 'GBP2', 'score': 13.37}, {'connected_gene': 'GBP5', 'score': 10.15}, {'connected_gene': 'GBP1', 'score': 9.3}, {'connected_gene': 'GBP4', 'score': 7.52}, {'connected_gene': 'GTF2B', 'score': 5.81}, {'connected_gene': 'KYAT3', 'score': 2.76}, {'connected_gene': 'LRRC8C', 'score': 1.7}, {'connected_gene': 'GBP6', 'score': 0.44}, {'connected_gene': 'PIR56754', 'score': 0.39}]
chr1 GH01I089069 89069665 89070800 1.04 [{'connected_gene': 'GBP1', 'score': 47.24}, {'connected_gene': 'GBP5', 'score': 29.84}, {'connected_gene': 'GBP7', 'score': 26.06}, {'connected_gene': 'GBP4', 'score': 24.99}, {'connected_gene': 'GBP2', 'score': 11.45}, {'connected_gene': 'GBP6', 'score': 10.26}, {'connected_gene': 'GBP3', 'score': 9.61}, {'connected_gene': 'GTF2B', 'score': 6.02}, {'connected_gene': 'GC01M089104', 'score': 0.29}, {'connected_gene': 'LOC105378841', 'score': 0.28}]
chr1 GH01I089351 89351593 89351858 0.4 [{'connected_gene': 'GBP1', 'score': 39.0}, {'connected_gene': 'GBP5', 'score': 34.74}, {'connected_gene': 'GBP4', 'score': 17.32}, {'connected_gene': 'GBP2', 'score': 16.77}, {'connected_gene': 'GTF2B', 'score': 8.28}, {'connected_gene': 'LRRC8C', 'score': 3.82}, {'connected_gene': 'GBP3', 'score': 2.34}, {'connected_gene': 'PIR56754', 'score': 0.44}, {'connected_gene': 'GBP6', 'score': 0.39}]
chr1 GH01I089284 89284727 89288153 1.33 [{'connected_gene': 'GBP1', 'score': 61.46}, {'connected_gene': 'GBP5', 'score': 35.65}, {'connected_gene': 'GBP4', 'score': 35.19}, {'connected_gene': 'GBP2', 'score': 14.64}, {'connected_gene': 'GBP6', 'score': 10.85}, {'connected_gene': 'GTF2B', 'score': 7.4}, {'connected_gene': 'LRRC8C', 'score': 3.51}, {'connected_gene': 'GBP3', 'score': 1.71}, {'connected_gene': 'LOC729930', 'score': 0.77}, {'connected_gene': 'GC01P089283', 'score': 0.77}, {'connected_gene': 'LOC100421401', 'score': 0.25}]
chr1 GH01I088983 88983458 88986492 1 [{'connected_gene': 'GBP6', 'score': 10.73}, {'connected_gene': 'RBMXL1', 'score': 10.62}, {'connected_gene': 'GBP5', 'score': 10.42}, {'connected_gene': 'LOC100421401', 'score': 10.22}, {'connected_gene': 'KYAT3', 'score': 0.44}, {'connected_gene': 'GC01M088952', 'score': 0.29}]
chr1 GH01I089365 89365052 89365657 0.2 [{'connected_gene': 'GBP6', 'score': 550.77}, {'connected_gene': 'LRRC8B', 'score': 4.7}, {'connected_gene': 'CAPNS1P1', 'score': 0.31}]
chr1 GH01I089362 89362835 89364608 1.36 [{'connected_gene': 'GBP6', 'score': 554.85}, {'connected_gene': 'LRRC8B', 'score': 4.67}, {'connected_gene': 'LOC101927975', 'score': 4.29}, {'connected_gene': 'PIR56754', 'score': 0.34}]
chr1 GH01I089455 89455282 89455411 0.6 [{'connected_gene': 'GBP6', 'score': 11.51}, {'connected_gene': 'GBP5', 'score': 10.45}, {'connected_gene': 'GC01M089463', 'score': 0.39}, {'connected_gene': 'PIR33822', 'score': 0.31}]
chr1 GH01I088989 88989801 88990000 0.38 [{'connected_gene': 'GBP5', 'score': 10.91}, {'connected_gene': 'GBP6', 'score': 10.8}, {'connected_gene': 'KYAT3', 'score': 0.77}, {'connected_gene': 'RBMXL1', 'score': 0.77}, {'connected_gene': 'GC01M088952', 'score': 0.28}]
chr1 GH01I089295 89295715 89297104 0.2 [{'connected_gene': 'GBP5', 'score': 11.7}, {'connected_gene': 'GBP6', 'score': 10.92}, {'connected_gene': 'GC01P089291', 'score': 0.44}, {'connected_gene': 'ENSG00000233235', 'score': 0.31}, {'connected_gene': 'LOC100421401', 'score': 0.22}]
chr1 GH01I089352 89352200 89352401 0.38 [{'connected_gene': 'GBP5', 'score': 11.36}, {'connected_gene': 'PIR56754', 'score': 0.44}, {'connected_gene': 'GBP6', 'score': 0.39}]
chr1 GH01I089358 89358600 89358800 0.63 [{'connected_gene': 'GBP4', 'score': 10.92}, {'connected_gene': 'GBP5', 'score': 10.74}, {'connected_gene': 'LRRC8B', 'score': 4.75}, {'connected_gene': 'GBP6', 'score': 0.44}, {'connected_gene': 'PIR56754', 'score': 0.37}]