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
ENST00000368444 [[123100619, 123101012], [123101435, 123101608], [123102237, 123102339], [123104861, 123105219]] [[123100939, 123101012], [123101435, 123101608], [123102237, 123102339], [123104861, 123104912]]
ENST00000356535 [[123100903, 123101012], [123101435, 123101608], [123102237, 123104041]] [[123100939, 123101012], [123101435, 123101608], [123102237, 123102492]]
NM_001319042 [[123070345, 123070479], [123101435, 123101608], [123102237, 123102339], [123104861, 123105222]] [[123070418, 123070479], [123101435, 123101608], [123102237, 123102339], [123104861, 123104912]]
NM_001319039 [[123100619, 123101012], [123101435, 123101608], [123102237, 123104041]] [[123100939, 123101012], [123101435, 123101608], [123102237, 123102492]]
NM_001446 [[123100619, 123101012], [123101435, 123101608], [123102237, 123102339], [123104861, 123105222]] [[123100939, 123101012], [123101435, 123101608], [123102237, 123102339], [123104861, 123104912]]
NM_001319041 [[123100619, 123101012], [123101435, 123105222]] [[123100939, 123101012], [123101435, 123101656]]
Promoter
Chrom Start End Description
chr6 123100738 123100763 CAGE_peak_2_at_FABP7_5end
chr6 123100819 123100828 CAGE_peak_3_at_FABP7_5end
chr6 123100853 123100874 CAGE_peak_1_at_FABP7_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I122770 122770683 122771400 1.1 [{'connected_gene': 'FABP7', 'score': 8.98}, {'connected_gene': 'PKIB', 'score': 2.86}, {'connected_gene': 'SMPDL3A', 'score': 2.82}, {'connected_gene': 'RN7SL564P', 'score': 0.31}]
chr6 GH06I122772 122772141 122773611 0.62 [{'connected_gene': 'FABP7', 'score': 8.85}, {'connected_gene': 'PKIB', 'score': 5.31}, {'connected_gene': 'RN7SL564P', 'score': 0.31}]
chr6 GH06I122343 122343668 122343677 0.22 [{'connected_gene': 'FABP7', 'score': 1.5}, {'connected_gene': 'HSF2', 'score': 0.22}, {'connected_gene': 'RNU1-18P', 'score': 0.12}]
chr6 GH06I122832 122832776 122833585 0.88 [{'connected_gene': 'FABP7', 'score': 12.67}, {'connected_gene': 'SMPDL3A', 'score': 11.22}, {'connected_gene': 'PKIB', 'score': 4.35}, {'connected_gene': 'SERINC1', 'score': 3.86}, {'connected_gene': 'CLVS2', 'score': 2.3}, {'connected_gene': 'GC06M122861', 'score': 0.31}]
chr6 GH06I122754 122754336 122754485 0.31 [{'connected_gene': 'FABP7', 'score': 11.58}, {'connected_gene': 'SMPDL3A', 'score': 10.99}, {'connected_gene': 'RN7SL564P', 'score': 0.44}]
chr6 GH06I122778 122778358 122780110 1.08 [{'connected_gene': 'FABP7', 'score': 550.77}, {'connected_gene': 'RN7SL564P', 'score': 0.29}]
chr6 GH06I122838 122838898 122839201 0.22 [{'connected_gene': 'CLVS2', 'score': 3.47}, {'connected_gene': 'FABP7', 'score': 2.56}, {'connected_gene': 'GC06M122861', 'score': 0.34}, {'connected_gene': 'SMPDL3A', 'score': 0.23}]
chr6 GH06I122759 122759099 122759387 0.54 [{'connected_gene': 'SMPDL3A', 'score': 15.05}, {'connected_gene': 'SERINC1', 'score': 1.69}, {'connected_gene': 'PKIB', 'score': 1.45}, {'connected_gene': 'RN7SL564P', 'score': 0.39}, {'connected_gene': 'FABP7', 'score': 0.34}]
chr6 GH06I122735 122735150 122736991 0.78 [{'connected_gene': 'SMPDL3A', 'score': 16.34}, {'connected_gene': 'FABP7', 'score': 4.84}, {'connected_gene': 'PKIB', 'score': 4.08}, {'connected_gene': 'RN7SL564P', 'score': 0.44}, {'connected_gene': 'ENSG00000272472', 'score': 0.16}]
chr6 GH06I122753 122753739 122753956 0.61 [{'connected_gene': 'SMPDL3A', 'score': 16.03}, {'connected_gene': 'FABP7', 'score': 11.58}, {'connected_gene': 'RN7SL564P', 'score': 0.44}]
chr6 GH06I122845 122845750 122846802 0.2 [{'connected_gene': 'SMPDL3A', 'score': 10.77}, {'connected_gene': 'FABP7', 'score': 10.35}, {'connected_gene': 'GC06M122861', 'score': 0.39}]
chr6 GH06I122853 122853696 122853845 0.63 [{'connected_gene': 'SMPDL3A', 'score': 10.92}, {'connected_gene': 'FABP7', 'score': 10.62}, {'connected_gene': 'GC06M122861', 'score': 0.44}]