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
ENST00000340457 [[102277471, 102278080], [102279160, 102279281], [102279569, 102279646], [102280650, 102280861], [102281058, 102281220], [102283076, 102283238]] [[102277971, 102278080], [102279160, 102279281], [102279569, 102279646], [102280650, 102280861], [102281058, 102281220], [102283076, 102283188]]

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr7 GH07I102444 102444596 102445815 0.98 [{'connected_gene': 'ORAI2', 'score': 26.58}, {'connected_gene': 'ENSG00000272949', 'score': 18.17}, {'connected_gene': 'POLR2J', 'score': 14.01}, {'connected_gene': 'MIR548O', 'score': 12.64}, {'connected_gene': 'PRKRIP1', 'score': 12.54}, {'connected_gene': 'UPK3BL1', 'score': 5.0}, {'connected_gene': 'PIR32382', 'score': 0.39}, {'connected_gene': 'ENSG00000239480', 'score': 0.39}]
chr7 GH07I102571 102571800 102573263 2.06 [{'connected_gene': 'POLR2J3', 'score': 561.8}, {'connected_gene': 'CRYZP1', 'score': 82.46}, {'connected_gene': 'ENSG00000213385', 'score': 77.54}, {'connected_gene': 'PRKRIP1', 'score': 49.61}, {'connected_gene': 'DNAJC2', 'score': 43.22}, {'connected_gene': 'PMPCB', 'score': 41.1}, {'connected_gene': 'ENSG00000239486', 'score': 40.78}, {'connected_gene': 'FAM185A', 'score': 32.12}, {'connected_gene': 'NAPEPLD', 'score': 20.1}, {'connected_gene': 'ALKBH4', 'score': 11.17}, {'connected_gene': 'UPK3BL1', 'score': 10.48}, {'connected_gene': 'POLR2J2', 'score': 9.39}, {'connected_gene': 'PIR31678', 'score': 0.39}, {'connected_gene': 'ENSG00000270249', 'score': 0.37}]
chr7 GH07I101861 101861841 101863302 1.33 [{'connected_gene': 'CUX1', 'score': 16.81}, {'connected_gene': 'SRRT', 'score': 11.01}, {'connected_gene': 'ENSG00000213385', 'score': 9.69}, {'connected_gene': 'UPK3BL1', 'score': 6.07}, {'connected_gene': 'RASA4B', 'score': 4.14}, {'connected_gene': 'GC07P101859', 'score': 0.77}, {'connected_gene': 'ENSG00000272219', 'score': 0.15}]
chr7 GH07I101895 101895930 101899389 0.43 [{'connected_gene': 'CUX1', 'score': 11.62}, {'connected_gene': 'UPK3BL1', 'score': 5.57}, {'connected_gene': 'GC07P101859', 'score': 0.28}, {'connected_gene': 'ENSG00000272219', 'score': 0.21}]
chr7 GH07I102026 102026766 102030012 0.77 [{'connected_gene': 'CUX1', 'score': 10.45}, {'connected_gene': 'RASA4DP', 'score': 5.24}, {'connected_gene': 'UPK3BL1', 'score': 4.38}, {'connected_gene': 'GC07M102004', 'score': 0.77}, {'connected_gene': 'GC07M101947', 'score': 0.21}]
chr7 GH07I101984 101984983 101987124 1.49 [{'connected_gene': 'CUX1', 'score': 11.25}, {'connected_gene': 'RASA4DP', 'score': 4.94}, {'connected_gene': 'UPK3BL1', 'score': 4.3}, {'connected_gene': 'GC07M101947', 'score': 0.37}, {'connected_gene': 'GC07M102004', 'score': 0.26}]
chr7 GH07I102834 102834503 102837874 0.99 [{'connected_gene': 'RNU6-1136P', 'score': 550.77}, {'connected_gene': 'GC07P102835', 'score': 550.77}, {'connected_gene': 'RPL23AP95', 'score': 12.9}, {'connected_gene': 'POLR2J3', 'score': 10.21}, {'connected_gene': 'UPK3BL1', 'score': 8.51}, {'connected_gene': 'RASA4DP', 'score': 7.04}, {'connected_gene': 'LRWD1', 'score': 5.4}, {'connected_gene': 'ARMC10', 'score': 5.31}, {'connected_gene': 'RN7SKP198', 'score': 0.34}, {'connected_gene': 'FAM185A', 'score': 0.17}, {'connected_gene': 'FBXL13', 'score': 0.07}]
chr7 GH07I102870 102870840 102877146 1.6 [{'connected_gene': 'LRRC17', 'score': 13.95}, {'connected_gene': 'CRYZP1', 'score': 11.47}, {'connected_gene': 'FAM185A', 'score': 10.71}, {'connected_gene': 'ENSG00000213385', 'score': 10.25}, {'connected_gene': 'POLR2J3', 'score': 9.8}, {'connected_gene': 'UPK3BL1', 'score': 9.27}, {'connected_gene': 'ARMC10', 'score': 6.16}, {'connected_gene': 'ORAI2', 'score': 4.87}, {'connected_gene': 'LRWD1', 'score': 4.67}, {'connected_gene': 'RN7SKP198', 'score': 0.37}, {'connected_gene': 'FBXL13', 'score': 0.08}]
chr7 GH07I101947 101947201 101948800 1.27 [{'connected_gene': 'UPK3BL1', 'score': 6.74}, {'connected_gene': 'SPDYE6', 'score': 4.05}, {'connected_gene': 'ENSG00000272219', 'score': 0.39}, {'connected_gene': 'GC07M101947', 'score': 0.37}, {'connected_gene': 'GC07P101859', 'score': 0.17}, {'connected_gene': 'CUX1', 'score': 0.12}]
chr7 GH07I102642 102642791 102642850 0.5 [{'connected_gene': 'UPK3BL1', 'score': 550.77}, {'connected_gene': 'ENSG00000205236', 'score': 550.77}, {'connected_gene': 'POLR2J2', 'score': 0.31}, {'connected_gene': 'ENSG00000267645', 'score': 0.31}, {'connected_gene': 'ENSG00000279168', 'score': 0.28}]
chr7 GH07I102025 102025891 102026060 0.51 [{'connected_gene': 'UPK3BL1', 'score': 4.87}, {'connected_gene': 'GC07M102004', 'score': 0.77}, {'connected_gene': 'GC07M101947', 'score': 0.22}, {'connected_gene': 'CUX1', 'score': 0.08}]
chr7 GH07I102023 102023305 102025862 1.3 [{'connected_gene': 'RASA4DP', 'score': 5.25}, {'connected_gene': 'UPK3BL1', 'score': 4.92}, {'connected_gene': 'GC07M102004', 'score': 0.44}, {'connected_gene': 'GC07M101947', 'score': 0.22}, {'connected_gene': 'CUX1', 'score': 0.08}]
chr7 GH07I102011 102011898 102014543 0.73 [{'connected_gene': 'ENSG00000252824', 'score': 10.85}, {'connected_gene': 'CUX1', 'score': 10.63}, {'connected_gene': 'UPK3BL1', 'score': 4.1}, {'connected_gene': 'GC07M102004', 'score': 0.37}, {'connected_gene': 'GC07M101947', 'score': 0.25}]
chr7 GH07I102638 102638299 102639558 0.2 [{'connected_gene': 'GC07P102641', 'score': 550.77}, {'connected_gene': 'PIR58350', 'score': 550.77}, {'connected_gene': 'GC07P102642', 'score': 550.77}, {'connected_gene': 'PIR51755', 'score': 0.77}, {'connected_gene': 'UPK3BL1', 'score': 0.77}, {'connected_gene': 'ENSG00000205236', 'score': 0.77}, {'connected_gene': 'POLR2J2', 'score': 0.29}, {'connected_gene': 'ENSG00000267645', 'score': 0.29}, {'connected_gene': 'ENSG00000279168', 'score': 0.26}]