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
ENST00000283147 [[7727029, 7727852], [7845372, 7845565], [7861683, 7861832], [7862533, 7862731], [7879306, 7879383], [7880223, 7880334], [7880426, 7881655]] [[7727188, 7727852], [7845372, 7845565], [7861683, 7861832], [7862533, 7862731], [7879306, 7879383], [7880223, 7880334], [7880426, 7880576]]
NM_001718 [[7726331, 7727852], [7845372, 7845565], [7861683, 7861832], [7862533, 7862731], [7879306, 7879383], [7880223, 7880334], [7880426, 7881961]] [[7727188, 7727852], [7845372, 7845565], [7861683, 7861832], [7862533, 7862731], [7879306, 7879383], [7880223, 7880334], [7880426, 7880576]]
Promoter
Chrom Start End Description
chr6 7726323 7726348 CAGE_peak_1_at_BMP6_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I007914 7914871 7916093 1.01 [{'connected_gene': 'TXNDC5', 'score': 10.81}, {'connected_gene': 'BMP6', 'score': 10.71}, {'connected_gene': 'BLOC1S5', 'score': 10.49}, {'connected_gene': 'EEF1E1', 'score': 4.23}, {'connected_gene': 'SNRNP48', 'score': 1.34}, {'connected_gene': 'GC06P007902', 'score': 0.39}, {'connected_gene': 'GC06M007933', 'score': 0.37}, {'connected_gene': 'BLOC1S5-TXNDC5', 'score': 0.11}]
chr6 GH06I007912 7912208 7912357 0.95 [{'connected_gene': 'TXNDC5', 'score': 550.77}, {'connected_gene': 'BMP6', 'score': 10.71}, {'connected_gene': 'BLOC1S5', 'score': 10.48}, {'connected_gene': 'GC06P007902', 'score': 0.44}, {'connected_gene': 'GC06M007933', 'score': 0.34}, {'connected_gene': 'BLOC1S5-TXNDC5', 'score': 0.1}]
chr6 GH06I007887 7887548 7888673 0.31 [{'connected_gene': 'TXNDC5', 'score': 14.86}, {'connected_gene': 'BMP6', 'score': 11.24}, {'connected_gene': 'BLOC1S5', 'score': 10.72}, {'connected_gene': 'PIR41509', 'score': 0.44}, {'connected_gene': 'GC06P007902', 'score': 0.39}, {'connected_gene': 'BLOC1S5-TXNDC5', 'score': 0.1}]
chr6 GH06I007908 7908601 7912011 2.41 [{'connected_gene': 'TXNDC5', 'score': 566.79}, {'connected_gene': 'BMP6', 'score': 10.71}, {'connected_gene': 'BLOC1S5', 'score': 10.48}, {'connected_gene': 'LOC100506207', 'score': 4.24}, {'connected_gene': 'GC06P007902', 'score': 0.44}, {'connected_gene': 'BLOC1S5-TXNDC5', 'score': 0.1}]
chr6 GH06I007847 7847200 7847400 0.54 [{'connected_gene': 'TXNDC5', 'score': 4.64}, {'connected_gene': 'GC06M007850', 'score': 0.77}, {'connected_gene': 'GC06M007796', 'score': 0.28}, {'connected_gene': 'BMP6', 'score': 0.13}]
chr6 GH06I007959 7959096 7963419 0.79 [{'connected_gene': 'BMP6', 'score': 10.99}, {'connected_gene': 'TXNDC5', 'score': 4.71}, {'connected_gene': 'GC06M007947', 'score': 0.39}, {'connected_gene': 'GC06M007967', 'score': 0.39}, {'connected_gene': 'BLOC1S5-TXNDC5', 'score': 0.15}]
chr6 GH06I007888 7888923 7890890 0.31 [{'connected_gene': 'BMP6', 'score': 11.24}, {'connected_gene': 'BLOC1S5', 'score': 10.54}, {'connected_gene': 'TXNDC5', 'score': 5.93}, {'connected_gene': 'PIR41509', 'score': 0.44}, {'connected_gene': 'GC06P007902', 'score': 0.39}, {'connected_gene': 'BLOC1S5-TXNDC5', 'score': 0.09}]
chr6 GH06I007996 7996474 7997505 1.47 [{'connected_gene': 'BMP6', 'score': 13.85}, {'connected_gene': 'BLOC1S5', 'score': 11.31}, {'connected_gene': 'TXNDC5', 'score': 3.61}, {'connected_gene': 'GC06P007990', 'score': 0.44}, {'connected_gene': 'PIR38170', 'score': 0.44}, {'connected_gene': 'PIR57650', 'score': 0.37}, {'connected_gene': 'BLOC1S5-TXNDC5', 'score': 0.2}]
chr6 GH06I007916 7916692 7918355 0.95 [{'connected_gene': 'BMP6', 'score': 10.71}, {'connected_gene': 'BLOC1S5', 'score': 10.49}, {'connected_gene': 'TXNDC5', 'score': 0.44}, {'connected_gene': 'GC06M007933', 'score': 0.37}, {'connected_gene': 'BLOC1S5-TXNDC5', 'score': 0.11}]
chr6 GH06I007725 7725908 7732830 2.62 [{'connected_gene': 'BMP6', 'score': 555.28}, {'connected_gene': 'LOC105374907', 'score': 550.77}, {'connected_gene': 'BLOC1S5', 'score': 10.99}, {'connected_gene': 'TXNDC5', 'score': 1.36}, {'connected_gene': 'GC06M007768', 'score': 0.23}]
chr6 GH06I007770 7770768 7770917 0.43 [{'connected_gene': 'BMP6', 'score': 11.52}, {'connected_gene': 'GC06M007768', 'score': 0.39}, {'connected_gene': 'LOC105374907', 'score': 0.26}]
chr6 GH06I007758 7758548 7758697 0.2 [{'connected_gene': 'BMP6', 'score': 11.42}, {'connected_gene': 'GC06M007768', 'score': 0.34}, {'connected_gene': 'LOC105374907', 'score': 0.29}]
chr6 GH06I007974 7974344 7977123 1.49 [{'connected_gene': 'BMP6', 'score': 11.49}, {'connected_gene': 'LOC101928076', 'score': 6.2}, {'connected_gene': 'TXNDC5', 'score': 4.48}, {'connected_gene': 'GC06M007967', 'score': 0.77}, {'connected_gene': 'PIP5K1P1', 'score': 0.39}, {'connected_gene': 'BLOC1S5-TXNDC5', 'score': 0.17}]
chr6 GH06I007958 7958325 7958938 0.31 [{'connected_gene': 'BMP6', 'score': 10.34}, {'connected_gene': 'GC06M007947', 'score': 0.39}, {'connected_gene': 'GC06M007967', 'score': 0.39}, {'connected_gene': 'BLOC1S5-TXNDC5', 'score': 0.14}]
chr6 GH06I007999 7999466 8001353 0.74 [{'connected_gene': 'BLOC1S5', 'score': 19.91}, {'connected_gene': 'TXNDC5', 'score': 12.42}, {'connected_gene': 'BMP6', 'score': 10.85}, {'connected_gene': 'ENSG00000238221', 'score': 9.4}, {'connected_gene': 'PIR57650', 'score': 0.39}, {'connected_gene': 'PIR38170', 'score': 0.39}, {'connected_gene': 'GC06P007990', 'score': 0.39}, {'connected_gene': 'GC06M007999', 'score': 0.34}, {'connected_gene': 'BLOC1S5-TXNDC5', 'score': 0.21}]
chr6 GH06I007991 7991602 7993385 1.18 [{'connected_gene': 'BLOC1S5', 'score': 18.39}, {'connected_gene': 'BMP6', 'score': 11.06}, {'connected_gene': 'PIP5K1P1', 'score': 5.67}, {'connected_gene': 'RIOK1', 'score': 4.82}, {'connected_gene': 'PIR38170', 'score': 0.77}, {'connected_gene': 'GC06P007990', 'score': 0.77}, {'connected_gene': 'PIR57650', 'score': 0.34}, {'connected_gene': 'BLOC1S5-TXNDC5', 'score': 0.19}]
chr6 GH06I008006 8006201 8006600 0.77 [{'connected_gene': 'BLOC1S5', 'score': 19.28}, {'connected_gene': 'BMP6', 'score': 10.99}, {'connected_gene': 'PIR57650', 'score': 0.44}, {'connected_gene': 'GC06M007999', 'score': 0.39}, {'connected_gene': 'GC06P007990', 'score': 0.37}, {'connected_gene': 'PIR38170', 'score': 0.37}, {'connected_gene': 'BLOC1S5-TXNDC5', 'score': 0.22}]
chr6 GH06I007997 7997961 7998785 0.72 [{'connected_gene': 'BLOC1S5', 'score': 18.31}, {'connected_gene': 'BMP6', 'score': 11.06}, {'connected_gene': 'GC06P007990', 'score': 0.44}, {'connected_gene': 'PIR38170', 'score': 0.44}, {'connected_gene': 'PIR57650', 'score': 0.37}, {'connected_gene': 'BLOC1S5-TXNDC5', 'score': 0.2}]
chr6 GH06I007723 7723148 7723297 0.69 [{'connected_gene': 'BLOC1S5', 'score': 10.2}, {'connected_gene': 'BMP6', 'score': 0.77}, {'connected_gene': 'GC06M007704', 'score': 0.44}]
chr6 GH06I007741 7741943 7744091 0.43 [{'connected_gene': 'BLOC1S5', 'score': 10.25}, {'connected_gene': 'LOC105374907', 'score': 0.37}, {'connected_gene': 'BMP6', 'score': 0.37}, {'connected_gene': 'GC06M007768', 'score': 0.28}]
chr6 GH06I007882 7882346 7883344 0.87 [{'connected_gene': 'PIR41509', 'score': 550.77}, {'connected_gene': 'TXNDC5', 'score': 17.18}, {'connected_gene': 'BMP6', 'score': 11.04}, {'connected_gene': 'BLOC1S5', 'score': 10.71}, {'connected_gene': 'GC06P007902', 'score': 0.34}, {'connected_gene': 'BLOC1S5-TXNDC5', 'score': 0.09}]
chr6 GH06I007973 7973668 7973817 0.66 [{'connected_gene': 'GC06M007967', 'score': 550.77}, {'connected_gene': 'BMP6', 'score': 10.92}, {'connected_gene': 'PIP5K1P1', 'score': 0.39}, {'connected_gene': 'BLOC1S5-TXNDC5', 'score': 0.16}]
chr6 GH06I007848 7847028 7847177 0.31 [{'connected_gene': 'GC06M007850', 'score': 0.77}, {'connected_gene': 'GC06M007796', 'score': 0.28}, {'connected_gene': 'BMP6', 'score': 0.13}]
chr6 GH06I007784 7784809 7787800 0.77 [{'connected_gene': 'GC06P007786', 'score': 550.77}, {'connected_gene': 'BMP6', 'score': 9.52}, {'connected_gene': 'GC06M007768', 'score': 0.77}]
chr6 GH06I007828 7828209 7828383 0.2 [{'connected_gene': 'GC06M007796', 'score': 0.37}, {'connected_gene': 'GC06M007850', 'score': 0.34}, {'connected_gene': 'BMP6', 'score': 0.15}]