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
ENST00000317357 [[107811161, 107811916], [107824860, 107824999], [107827445, 107827631], [107854662, 107854814], [107908283, 107908379], [107954717, 107956673], [107979410, 107981357]] [[107811820, 107811916], [107824860, 107824999], [107827445, 107827631], [107854662, 107854814], [107908283, 107908379], [107954717, 107956670]]
ENST00000477448 [[107811309, 107811916], [107824860, 107824999], [107827445, 107827631], [107854662, 107854814], [107879040, 107879491]] None
ENST00000494935 [[107956193, 107956673], [107957428, 107957520]] None
NM_018013 [[107811316, 107811916], [107824860, 107824999], [107827445, 107827631], [107854662, 107854814], [107908283, 107908379], [107954717, 107956673], [107979410, 107982513]] [[107811820, 107811916], [107824860, 107824999], [107827445, 107827631], [107854662, 107854814], [107908283, 107908379], [107954717, 107956670]]
Promoter
Chrom Start End Description
chr6 107811185 107811196 CAGE_peak_10_at_SOBP_5end
chr6 107811268 107811286 CAGE_peak_2_at_SOBP_5end
chr6 107811288 107811297 CAGE_peak_5_at_SOBP_5end
chr6 107811307 107811346 CAGE_peak_1_at_SOBP_5end
chr6 107811359 107811370 CAGE_peak_6_at_SOBP_5end
chr6 107811391 107811415 CAGE_peak_3_at_SOBP_5end
chr6 107811746 107811766 CAGE_peak_12_at_SOBP_5end
chr6 107811776 107811811 CAGE_peak_4_at_SOBP_5end
chr6 107954916 107954929 CAGE_peak_13_at_SOBP_5end
chr6 107955013 107955030 CAGE_peak_8_at_SOBP_5end
chr6 107956089 107956119 CAGE_peak_7_at_SOBP_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I106509 106509487 106517200 2.38 [{'connected_gene': 'BEND3', 'score': 20.41}, {'connected_gene': 'SOBP', 'score': 20.03}, {'connected_gene': 'ATG5', 'score': 19.43}, {'connected_gene': 'CRYBG1', 'score': 12.85}, {'connected_gene': 'QRSL1', 'score': 9.18}, {'connected_gene': 'LOC101927405', 'score': 0.39}, {'connected_gene': 'GC06P106528', 'score': 0.37}]
chr6 GH06I107633 107633776 107635540 0.43 [{'connected_gene': 'BEND3', 'score': 11.79}, {'connected_gene': 'GC06P107632', 'score': 0.77}, {'connected_gene': 'PIR51849', 'score': 0.34}, {'connected_gene': 'SOBP', 'score': 0.11}]
chr6 GH06I107654 107654615 107659914 1.75 [{'connected_gene': 'BEND3', 'score': 11.78}, {'connected_gene': 'PIR51849', 'score': 0.77}, {'connected_gene': 'GC06P107632', 'score': 0.34}, {'connected_gene': 'SOBP', 'score': 0.1}]
chr6 GH06I107458 107458400 107460652 2.09 [{'connected_gene': 'PDSS2', 'score': 550.77}, {'connected_gene': 'PIR39325', 'score': 550.77}, {'connected_gene': 'SOBP', 'score': 5.56}]
chr6 GH06I107241 107241066 107242852 0.96 [{'connected_gene': 'SOBP', 'score': 7.74}, {'connected_gene': 'PDSS2', 'score': 4.6}, {'connected_gene': 'GC06P107237', 'score': 0.77}, {'connected_gene': 'GC06P107246', 'score': 0.77}]
chr6 GH06I107452 107452129 107452198 0.23 [{'connected_gene': 'SOBP', 'score': 1.9}, {'connected_gene': 'PDSS2', 'score': 0.44}, {'connected_gene': 'PIR39325', 'score': 0.44}, {'connected_gene': 'GC06P107406', 'score': 0.25}]
chr6 GH06I107488 107488477 107496399 2.44 [{'connected_gene': 'SOBP', 'score': 556.02}, {'connected_gene': 'PDSS2', 'score': 10.74}, {'connected_gene': 'ENSG00000234206', 'score': 0.37}, {'connected_gene': 'GC06M107466', 'score': 0.34}]
chr6 GH06I107318 107318200 107318401 0.72 [{'connected_gene': 'SOBP', 'score': 4.62}, {'connected_gene': 'GC06P107268', 'score': 0.25}, {'connected_gene': 'PIR39423', 'score': 0.22}, {'connected_gene': 'PDSS2', 'score': 0.11}]
chr6 GH06I107290 107290577 107290928 0.52 [{'connected_gene': 'SOBP', 'score': 5.8}, {'connected_gene': 'GC06P107268', 'score': 0.34}, {'connected_gene': 'PIR39423', 'score': 0.18}, {'connected_gene': 'PDSS2', 'score': 0.1}]
chr6 GH06I107329 107329995 107331139 0.56 [{'connected_gene': 'SOBP', 'score': 13.08}, {'connected_gene': 'LINC02526', 'score': 4.82}, {'connected_gene': 'PIR39423', 'score': 0.26}, {'connected_gene': 'GC06P107268', 'score': 0.21}, {'connected_gene': 'PDSS2', 'score': 0.13}]
chr6 GH06I107606 107606497 107608053 0.43 [{'connected_gene': 'SOBP', 'score': 5.31}, {'connected_gene': 'PIR36087', 'score': 0.37}, {'connected_gene': 'PIR44328', 'score': 0.34}]
chr6 GH06I106536 106536602 106538600 0.72 [{'connected_gene': 'GC06P106538', 'score': 550.77}, {'connected_gene': 'QRSL1', 'score': 14.62}, {'connected_gene': 'CRYBG1', 'score': 7.36}, {'connected_gene': 'SOBP', 'score': 5.3}, {'connected_gene': 'GC06P106528', 'score': 0.44}]
chr6 GH06I107511 107511204 107513140 0.86 [{'connected_gene': 'ENSG00000234206', 'score': 557.69}, {'connected_gene': 'GC06M107466', 'score': 0.44}, {'connected_gene': 'SOBP', 'score': 0.34}]
chr6 GH06I107645 107645625 107647173 0.46 [{'connected_gene': 'GC06P107632', 'score': 0.39}, {'connected_gene': 'PIR51849', 'score': 0.39}, {'connected_gene': 'SOBP', 'score': 0.1}]
chr6 GH06I107610 107610403 107612596 0.72 [{'connected_gene': 'PIR44328', 'score': 0.37}, {'connected_gene': 'PIR36087', 'score': 0.34}, {'connected_gene': 'SOBP', 'score': 0.13}]
chr6 GH06I107641 107641244 107643209 0.76 [{'connected_gene': 'GC06P107632', 'score': 0.44}, {'connected_gene': 'PIR51849', 'score': 0.37}, {'connected_gene': 'SOBP', 'score': 0.1}]
chr6 GH06I107579 107579077 107579286 0.43 [{'connected_gene': 'PIR36087', 'score': 0.39}, {'connected_gene': 'GC06M107466', 'score': 0.21}, {'connected_gene': 'SOBP', 'score': 0.17}]
chr6 GH06I107660 107660917 107661126 0.31 [{'connected_gene': 'PIR51849', 'score': 550.77}, {'connected_gene': 'ENSG00000280135', 'score': 0.28}, {'connected_gene': 'SOBP', 'score': 0.09}]
chr6 GH06I107600 107600937 107601611 0.74 [{'connected_gene': 'PIR36087', 'score': 0.39}, {'connected_gene': 'PIR44328', 'score': 0.31}, {'connected_gene': 'SOBP', 'score': 0.14}]
chr6 GH06I107653 107653325 107653466 0.92 [{'connected_gene': 'PIR51849', 'score': 0.44}, {'connected_gene': 'GC06P107632', 'score': 0.34}, {'connected_gene': 'SOBP', 'score': 0.1}]
chr6 GH06I107539 107539057 107541234 1.01 [{'connected_gene': 'ENSG00000234206', 'score': 7.13}, {'connected_gene': 'GC06M107466', 'score': 0.34}, {'connected_gene': 'PIR36087', 'score': 0.25}, {'connected_gene': 'SOBP', 'score': 0.23}]
chr6 GH06I107559 107559924 107562348 0.79 [{'connected_gene': 'PIR36087', 'score': 0.31}, {'connected_gene': 'GC06M107466', 'score': 0.26}, {'connected_gene': 'SOBP', 'score': 0.19}]
chr6 GH06I107532 107532460 107533365 0.31 [{'connected_gene': 'GC06M107466', 'score': 0.37}, {'connected_gene': 'SOBP', 'score': 0.26}, {'connected_gene': 'PIR36087', 'score': 0.22}]
chr6 GH06I107601 107600201 107600400 0.2 [{'connected_gene': 'PIR36087', 'score': 0.39}, {'connected_gene': 'PIR44328', 'score': 0.31}, {'connected_gene': 'SOBP', 'score': 0.14}]
chr6 GH06I107632 107632413 107632625 0.4 [{'connected_gene': 'GC06P107632', 'score': 550.77}, {'connected_gene': 'PIR51849', 'score': 0.31}, {'connected_gene': 'SOBP', 'score': 0.11}]
chr6 GH06I107647 107647547 107648565 0.2 [{'connected_gene': 'PIR51849', 'score': 0.39}, {'connected_gene': 'GC06P107632', 'score': 0.37}, {'connected_gene': 'SOBP', 'score': 0.1}]
chr6 GH06I107618 107618215 107619597 0.62 [{'connected_gene': 'PIR44328', 'score': 0.44}, {'connected_gene': 'PIR36087', 'score': 0.31}, {'connected_gene': 'SOBP', 'score': 0.13}]
chr6 GH06I107509 107509537 107510326 0.96 [{'connected_gene': 'ENSG00000234206', 'score': 557.48}, {'connected_gene': 'GC06M107466', 'score': 0.44}, {'connected_gene': 'SOBP', 'score': 0.37}]