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
ENST00000454765 [[72416118, 72416523], [72419132, 72419840], [72424216, 72424358], [72427364, 72427644]] [[72419200, 72419840], [72424216, 72424358], [72427364, 72427557]]
ENST00000287773 [[72416395, 72416523], [72419132, 72419840], [72424216, 72424358], [72427367, 72427636]] [[72419200, 72419840], [72424216, 72424358], [72427367, 72427557]]
NM_001161342 [[72416387, 72416523], [72419132, 72419840], [72424216, 72424358], [72427367, 72427644]] [[72419200, 72419840], [72424216, 72424358], [72427367, 72427557]]
NM_173490 [[72416387, 72416523], [72419132, 72419840], [72424216, 72424358], [72427364, 72427644]] [[72419200, 72419840], [72424216, 72424358], [72427364, 72427557]]
Promoter
Chrom Start End Description
chr5 72416387 72416409 CAGE_peak_1_at_TMEM171_5end
chr5 72416428 72416441 CAGE_peak_3_at_TMEM171_5end
chr5 72416466 72416490 CAGE_peak_2_at_TMEM171_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr5 GH05I073029 73029624 73032773 1.13 [{'connected_gene': 'ANKRA2', 'score': 62.96}, {'connected_gene': 'ENSG00000271926', 'score': 12.06}, {'connected_gene': 'ENSG00000272525', 'score': 11.33}, {'connected_gene': 'UTP15', 'score': 11.32}, {'connected_gene': 'TMEM171', 'score': 10.86}, {'connected_gene': 'ENSG00000272081', 'score': 8.04}, {'connected_gene': 'FCHO2', 'score': 7.06}, {'connected_gene': 'LOC728549', 'score': 0.44}, {'connected_gene': 'GC05P073101', 'score': 0.2}]
chr5 GH05I073418 73418996 73420543 0.76 [{'connected_gene': 'ANKRA2', 'score': 11.83}, {'connected_gene': 'LINC01386', 'score': 10.82}, {'connected_gene': 'TMEM171', 'score': 10.74}, {'connected_gene': 'BTF3', 'score': 4.84}, {'connected_gene': 'FOXD1-AS1', 'score': 0.31}, {'connected_gene': 'GC05P073385', 'score': 0.29}]
chr5 GH05I073201 73201601 73202454 1.04 [{'connected_gene': 'LOC340090', 'score': 550.77}, {'connected_gene': 'ANKRA2', 'score': 15.88}, {'connected_gene': 'UTP15', 'score': 12.08}, {'connected_gene': 'TMEM174', 'score': 11.87}, {'connected_gene': 'TMEM171', 'score': 10.66}, {'connected_gene': 'TNPO1', 'score': 10.18}, {'connected_gene': 'LINC01386', 'score': 9.94}, {'connected_gene': 'ENSG00000249743', 'score': 0.39}]
chr5 GH05I073181 73181923 73184677 0.54 [{'connected_gene': 'TMEM171', 'score': 10.66}, {'connected_gene': 'UTP15', 'score': 5.11}, {'connected_gene': 'TMEM174', 'score': 0.39}, {'connected_gene': 'LOC340090', 'score': 0.37}]
chr5 GH05I073039 73039174 73039363 0.49 [{'connected_gene': 'TMEM171', 'score': 10.33}, {'connected_gene': 'LOC728549', 'score': 0.37}, {'connected_gene': 'GC05P073101', 'score': 0.21}, {'connected_gene': 'FCHO2', 'score': 0.18}]
chr5 GH05I073114 73114714 73121237 2 [{'connected_gene': 'TMEM171', 'score': 560.92}, {'connected_gene': 'ANKRA2', 'score': 15.88}, {'connected_gene': 'UTP15', 'score': 12.08}, {'connected_gene': 'TNPO1', 'score': 10.18}, {'connected_gene': 'ENSG00000249085', 'score': 7.44}, {'connected_gene': 'ARHGEF28', 'score': 5.81}, {'connected_gene': 'GC05M073090', 'score': 0.77}]
chr5 GH05I073083 73083194 73083343 0.64 [{'connected_gene': 'TMEM171', 'score': 11.57}, {'connected_gene': 'TMEM174', 'score': 10.86}, {'connected_gene': 'GC05P073101', 'score': 0.37}, {'connected_gene': 'LOC728549', 'score': 0.21}, {'connected_gene': 'FCHO2', 'score': 0.13}]
chr5 GH05I073122 73122149 73123690 0.86 [{'connected_gene': 'TMEM171', 'score': 11.22}, {'connected_gene': 'TMEM174', 'score': 10.89}, {'connected_gene': 'FCHO2', 'score': 5.86}, {'connected_gene': 'GC05P073146', 'score': 0.34}]
chr5 GH05I073094 73094074 73094223 0.54 [{'connected_gene': 'TMEM171', 'score': 11.17}, {'connected_gene': 'TMEM174', 'score': 10.15}, {'connected_gene': 'LINC01386', 'score': 10.02}, {'connected_gene': 'GC05P073101', 'score': 0.44}, {'connected_gene': 'GC05M073090', 'score': 0.34}, {'connected_gene': 'LOC728549', 'score': 0.19}]
chr5 GH05I073187 73187995 73190449 0.9 [{'connected_gene': 'TMEM171', 'score': 10.74}, {'connected_gene': 'LINC01386', 'score': 9.98}, {'connected_gene': 'ENSG00000184084', 'score': 4.3}, {'connected_gene': 'LOC340090', 'score': 0.39}, {'connected_gene': 'TMEM174', 'score': 0.37}]
chr5 GH05I073160 73160314 73160403 0.78 [{'connected_gene': 'TMEM171', 'score': 10.56}, {'connected_gene': 'LOC101060067', 'score': 0.44}, {'connected_gene': 'TMEM174', 'score': 0.39}]
chr5 GH05I073129 73129492 73130089 0.2 [{'connected_gene': 'TMEM171', 'score': 0.44}, {'connected_gene': 'GC05P073146', 'score': 0.37}]
chr5 GH05I073135 73135437 73136725 0.52 [{'connected_gene': 'LOC105379030', 'score': 0.39}, {'connected_gene': 'GC05P073146', 'score': 0.39}, {'connected_gene': 'TMEM171', 'score': 0.37}]
chr5 GH05I073256 73256974 73257123 0.2 [{'connected_gene': 'LINC01386', 'score': 10.48}, {'connected_gene': 'TMEM171', 'score': 9.95}, {'connected_gene': 'LOC105379031', 'score': 0.37}, {'connected_gene': 'ENSG00000249743', 'score': 0.26}]
chr5 GH05I073369 73369271 73372642 0.94 [{'connected_gene': 'LINC01386', 'score': 10.32}, {'connected_gene': 'TMEM171', 'score': 10.12}, {'connected_gene': 'BTF3', 'score': 7.75}, {'connected_gene': 'ENSG00000249149', 'score': 0.39}, {'connected_gene': 'GC05P073340', 'score': 0.29}]
chr5 GH05I073373 73373666 73375431 0.66 [{'connected_gene': 'LINC01386', 'score': 10.33}, {'connected_gene': 'TMEM171', 'score': 10.12}, {'connected_gene': 'BTF3', 'score': 7.75}, {'connected_gene': 'ENSG00000249149', 'score': 0.44}, {'connected_gene': 'GC05P073340', 'score': 0.28}]
chr5 GH05I073137 73137623 73138587 0.38 [{'connected_gene': 'ENSG00000271926', 'score': 4.55}, {'connected_gene': 'GC05P073146', 'score': 0.44}, {'connected_gene': 'LOC105379030', 'score': 0.39}, {'connected_gene': 'TMEM171', 'score': 0.37}]