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
ENST00000286688 [[96257146, 96259998], [96264415, 96264511], [96272067, 96272133], [96272695, 96272760], [96275914, 96276002], [96281262, 96281429]] [[96259844, 96259998], [96264415, 96264511], [96272067, 96272133], [96272695, 96272760], [96275914, 96276002], [96281262, 96281417]]
NM_177965 [[96257140, 96259998], [96264415, 96264511], [96272067, 96272133], [96272695, 96272760], [96275914, 96276002], [96281262, 96281462]] [[96259844, 96259998], [96264415, 96264511], [96272067, 96272133], [96272695, 96272760], [96275914, 96276002], [96281262, 96281417]]
Promoter
Chrom Start End Description
chr8 96281419 96281444 CAGE_peak_1_at_C8orf37_5end
chr8 96281501 96281522 CAGE_peak_3_at_C8orf37_5end
chr8 96281627 96281658 CAGE_peak_2_at_C8orf37_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr8 GH08I094946 94946965 94951642 2.22 [{'connected_gene': 'TP53INP1', 'score': 559.8}, {'connected_gene': 'ENSG00000253878', 'score': 550.77}, {'connected_gene': 'NDUFAF6', 'score': 6.79}, {'connected_gene': 'C8orf37', 'score': 4.52}, {'connected_gene': 'CCNE2', 'score': 0.23}]
chr8 GH08I095248 95248793 95248982 0.96 [{'connected_gene': 'PLEKHF2', 'score': 11.81}, {'connected_gene': 'INTS8', 'score': 10.74}, {'connected_gene': 'ENSG00000253878', 'score': 10.53}, {'connected_gene': 'TP53INP1', 'score': 10.53}, {'connected_gene': 'TRS-AGA2-5', 'score': 0.34}, {'connected_gene': 'C8orf37', 'score': 0.34}, {'connected_gene': 'LINC01298', 'score': 0.29}, {'connected_gene': 'C8orf37-AS1', 'score': 0.26}]
chr8 GH08I095220 95220102 95221871 0.43 [{'connected_gene': 'PLEKHF2', 'score': 10.54}, {'connected_gene': 'C8orf37', 'score': 4.8}, {'connected_gene': 'LINC01298', 'score': 0.77}, {'connected_gene': 'C8orf37-AS1', 'score': 0.37}, {'connected_gene': 'TRS-AGA2-5', 'score': 0.25}]
chr8 GH08I095228 95228363 95230580 1.09 [{'connected_gene': 'PLEKHF2', 'score': 10.92}, {'connected_gene': 'C8orf37', 'score': 5.86}, {'connected_gene': 'LINC01298', 'score': 0.39}, {'connected_gene': 'C8orf37-AS1', 'score': 0.31}, {'connected_gene': 'TRS-AGA2-5', 'score': 0.26}]
chr8 GH08I095236 95236693 95237055 0.63 [{'connected_gene': 'PLEKHF2', 'score': 10.96}, {'connected_gene': 'RNU6-1209P', 'score': 10.93}, {'connected_gene': 'ENSG00000253878', 'score': 10.43}, {'connected_gene': 'TP53INP1', 'score': 10.43}, {'connected_gene': 'C8orf37', 'score': 5.87}, {'connected_gene': 'LINC01298', 'score': 0.34}, {'connected_gene': 'C8orf37-AS1', 'score': 0.29}, {'connected_gene': 'TRS-AGA2-5', 'score': 0.29}]
chr8 GH08I095237 95237253 95238557 0.97 [{'connected_gene': 'PLEKHF2', 'score': 10.96}, {'connected_gene': 'RNU6-1209P', 'score': 10.93}, {'connected_gene': 'ENSG00000253878', 'score': 10.43}, {'connected_gene': 'TP53INP1', 'score': 10.43}, {'connected_gene': 'C8orf37', 'score': 5.87}, {'connected_gene': 'LINC01298', 'score': 0.34}, {'connected_gene': 'C8orf37-AS1', 'score': 0.29}, {'connected_gene': 'TRS-AGA2-5', 'score': 0.29}]
chr8 GH08I096260 96260138 96265430 2.09 [{'connected_gene': 'MTERF3', 'score': 559.79}, {'connected_gene': 'PTDSS1', 'score': 550.77}, {'connected_gene': 'C8orf37', 'score': 10.71}, {'connected_gene': 'GC08P096270', 'score': 0.44}, {'connected_gene': 'LOC105375652', 'score': 0.34}]
chr8 GH08I096103 96103296 96105553 0.8 [{'connected_gene': 'MTERF3', 'score': 11.64}, {'connected_gene': 'GDF6', 'score': 11.45}, {'connected_gene': 'C8orf37', 'score': 11.31}, {'connected_gene': 'TUBBP7', 'score': 0.34}, {'connected_gene': 'GAPDHP30', 'score': 0.29}]
chr8 GH08I094718 94718637 94721525 2.14 [{'connected_gene': 'DPY19L4', 'score': 556.16}, {'connected_gene': 'VIRMA', 'score': 75.65}, {'connected_gene': 'RBM12B', 'score': 50.15}, {'connected_gene': 'INTS8', 'score': 49.38}, {'connected_gene': 'C8orf37', 'score': 39.47}, {'connected_gene': 'NDUFAF6', 'score': 13.25}, {'connected_gene': 'RPL34P18', 'score': 11.26}, {'connected_gene': 'TMEM67', 'score': 10.99}, {'connected_gene': 'ENSG00000272509', 'score': 10.57}, {'connected_gene': 'ESRP1', 'score': 10.12}, {'connected_gene': 'ENSG00000253704', 'score': 9.77}, {'connected_gene': 'ENSG00000254307', 'score': 0.19}]
chr8 GH08I095249 95248065 95248770 0.75 [{'connected_gene': 'C8orf37', 'score': 12.68}, {'connected_gene': 'PLEKHF2', 'score': 11.82}, {'connected_gene': 'INTS8', 'score': 10.74}, {'connected_gene': 'ENSG00000253878', 'score': 10.53}, {'connected_gene': 'TP53INP1', 'score': 10.53}, {'connected_gene': 'TRS-AGA2-5', 'score': 0.34}, {'connected_gene': 'LINC01298', 'score': 0.29}, {'connected_gene': 'C8orf37-AS1', 'score': 0.26}]
chr8 GH08I095267 95267856 95271238 2.12 [{'connected_gene': 'C8orf37', 'score': 563.74}, {'connected_gene': 'TRS-AGA2-5', 'score': 550.77}, {'connected_gene': 'VIRMA', 'score': 62.5}, {'connected_gene': 'INTS8', 'score': 56.34}, {'connected_gene': 'ENSG00000272509', 'score': 11.48}, {'connected_gene': 'ENSG00000253704', 'score': 10.65}, {'connected_gene': 'ENSG00000253878', 'score': 10.43}, {'connected_gene': 'MTERF3', 'score': 4.99}, {'connected_gene': 'LINC01298', 'score': 0.23}, {'connected_gene': 'C8orf37-AS1', 'score': 0.2}]
chr8 GH08I095230 95230917 95231881 0.58 [{'connected_gene': 'RNU6-1209P', 'score': 11.25}, {'connected_gene': 'PLEKHF2', 'score': 11.11}, {'connected_gene': 'C8orf37', 'score': 5.9}, {'connected_gene': 'LINC01298', 'score': 0.37}, {'connected_gene': 'C8orf37-AS1', 'score': 0.31}, {'connected_gene': 'TRS-AGA2-5', 'score': 0.28}]
chr8 GH08I094963 94963115 94964974 1.17 [{'connected_gene': 'MIR3150BHG', 'score': 9.8}, {'connected_gene': 'TP53INP1', 'score': 8.57}, {'connected_gene': 'NDUFAF6', 'score': 5.87}, {'connected_gene': 'C8orf37', 'score': 4.37}, {'connected_gene': 'PLEKHF2', 'score': 1.84}, {'connected_gene': 'ENSG00000253528', 'score': 0.39}, {'connected_gene': 'ENSG00000253878', 'score': 0.39}]
chr8 GH08I095318 95318653 95318702 0.2 [{'connected_gene': 'FSBP', 'score': 4.17}, {'connected_gene': 'GC08P095334', 'score': 0.37}, {'connected_gene': 'C8orf37', 'score': 0.25}, {'connected_gene': 'C8orf37-AS1', 'score': 0.14}]
chr8 GH08I095223 95223053 95227552 1.38 [{'connected_gene': 'ENSG00000254248', 'score': 11.33}, {'connected_gene': 'PLEKHF2', 'score': 11.1}, {'connected_gene': 'CCNE2', 'score': 10.31}, {'connected_gene': 'C8orf37', 'score': 5.46}, {'connected_gene': 'LINC01298', 'score': 0.44}, {'connected_gene': 'C8orf37-AS1', 'score': 0.34}, {'connected_gene': 'TRS-AGA2-5', 'score': 0.26}]
chr8 GH08I095334 95334093 95334242 0.54 [{'connected_gene': 'GC08P095334', 'score': 550.77}, {'connected_gene': 'C8orf37', 'score': 0.21}, {'connected_gene': 'C8orf37-AS1', 'score': 0.13}]
chr8 GH08I095335 95334245 95335100 0.43 [{'connected_gene': 'GC08P095334', 'score': 550.77}, {'connected_gene': 'C8orf37', 'score': 0.21}, {'connected_gene': 'C8orf37-AS1', 'score': 0.12}]
chr8 GH08I095317 95317593 95318462 0.72 [{'connected_gene': 'GC08P095334', 'score': 0.37}, {'connected_gene': 'C8orf37', 'score': 0.25}, {'connected_gene': 'C8orf37-AS1', 'score': 0.14}]