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
ENST00000251296 [[18434239, 18434692], [18554391, 18554504], [18618359, 18618481], [18661385, 18661504], [18688608, 18688724], [18691716, 18692191], [18702803, 18702889], [18703293, 18703486], [18703886, 18703925], [18704749, 18704976]] [[18434622, 18434692], [18554391, 18554504], [18618359, 18618481], [18661385, 18661504], [18688608, 18688724], [18691716, 18692191], [18702803, 18702889], [18703293, 18703486], [18703886, 18703925], [18704749, 18704820]]
ENST00000412684 [[18605338, 18605378], [18618359, 18618481], [18661385, 18661504], [18688608, 18688724], [18691716, 18692191], [18702803, 18702861]] [[18605338, 18605378], [18618359, 18618481], [18661385, 18661504], [18688608, 18688724], [18691716, 18692191], [18702803, 18702861]]
ENST00000497331 [[18687860, 18688724], [18691716, 18692191], [18702803, 18702889], [18703293, 18703486], [18703886, 18703925], [18704749, 18704977]] None
ENST00000473951 [[18702450, 18702889], [18703293, 18703414]] None
NM_032880 [[18434239, 18434692], [18554391, 18554504], [18618359, 18618481], [18661385, 18661504], [18688608, 18688724], [18691716, 18692191], [18702803, 18702889], [18703293, 18703486], [18703886, 18703925], [18704749, 18704977]] [[18434622, 18434692], [18554391, 18554504], [18618359, 18618481], [18661385, 18661504], [18688608, 18688724], [18691716, 18692191], [18702803, 18702889], [18703293, 18703486], [18703886, 18703925], [18704749, 18704820]]
Promoter
Chrom Start End Description
chr1 18433873 18433888 CAGE_peak_8_at_IGSF21_5end
chr1 18433983 18434000 CAGE_peak_6_at_IGSF21_5end
chr1 18434245 18434256 CAGE_peak_2_at_IGSF21_5end
chr1 18434257 18434308 CAGE_peak_1_at_IGSF21_5end
chr1 18434493 18434527 CAGE_peak_3_at_IGSF21_5end
chr1 18434615 18434642 CAGE_peak_4_at_IGSF21_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I017636 17636415 17637578 0.46 [{'connected_gene': 'IGSF21', 'score': 11.02}, {'connected_gene': 'ARHGEF10L', 'score': 10.45}, {'connected_gene': 'ACTL8', 'score': 0.18}, {'connected_gene': 'GC01P017551', 'score': 0.17}]
chr1 GH01I017637 17637700 17641586 0.54 [{'connected_gene': 'IGSF21', 'score': 11.02}, {'connected_gene': 'ARHGEF10L', 'score': 10.45}, {'connected_gene': 'ACTL8', 'score': 0.19}, {'connected_gene': 'GC01P017551', 'score': 0.17}]
chr1 GH01I017635 17635557 17636320 1.11 [{'connected_gene': 'IGSF21', 'score': 11.02}, {'connected_gene': 'ARHGEF10L', 'score': 10.45}, {'connected_gene': 'PADI4', 'score': 1.14}, {'connected_gene': 'ACTL8', 'score': 0.18}, {'connected_gene': 'GC01P017551', 'score': 0.18}]
chr1 GH01I018224 18224070 18227129 0.31 [{'connected_gene': 'IGSF21', 'score': 5.22}, {'connected_gene': 'IGSF21-AS1', 'score': 0.25}, {'connected_gene': 'PIR34886', 'score': 0.21}, {'connected_gene': 'GC01P018288', 'score': 0.21}]
chr1 GH01I018228 18228133 18230938 0.2 [{'connected_gene': 'IGSF21', 'score': 5.41}, {'connected_gene': 'IGSF21-AS1', 'score': 0.23}, {'connected_gene': 'PIR34886', 'score': 0.22}, {'connected_gene': 'GC01P018288', 'score': 0.22}]
chr1 GH01I018262 18262827 18262976 0.2 [{'connected_gene': 'IGSF21', 'score': 10.38}, {'connected_gene': 'PIR34886', 'score': 0.34}, {'connected_gene': 'GC01P018288', 'score': 0.34}, {'connected_gene': 'IGSF21-AS1', 'score': 0.18}]
chr1 GH01I018256 18256407 18256556 0.92 [{'connected_gene': 'IGSF21', 'score': 10.26}, {'connected_gene': 'PIR34886', 'score': 0.29}, {'connected_gene': 'GC01P018288', 'score': 0.29}, {'connected_gene': 'IGSF21-AS1', 'score': 0.18}]
chr1 GH01I018160 18160600 18161200 0.31 [{'connected_gene': 'IGSF21', 'score': 11.74}, {'connected_gene': 'GC01P018158', 'score': 0.77}, {'connected_gene': 'IGSF21-AS1', 'score': 0.37}]
chr1 GH01I018108 18107567 18107716 0.62 [{'connected_gene': 'IGSF21', 'score': 550.77}, {'connected_gene': 'ENSG00000280222', 'score': 550.77}, {'connected_gene': 'GC01M018090', 'score': 0.28}, {'connected_gene': 'LINC01654', 'score': 0.26}]
chr1 GH01I018107 18107749 18107808 0.79 [{'connected_gene': 'IGSF21', 'score': 550.77}, {'connected_gene': 'ENSG00000280222', 'score': 550.77}, {'connected_gene': 'GC01M018090', 'score': 0.28}]
chr1 GH01I018122 18122168 18122544 0.22 [{'connected_gene': 'IGSF21-AS1', 'score': 11.06}, {'connected_gene': 'IGSF21', 'score': 3.85}, {'connected_gene': 'ENSG00000280222', 'score': 0.39}, {'connected_gene': 'GC01M018090', 'score': 0.34}]
chr1 GH01I018232 18232522 18234383 0.38 [{'connected_gene': 'IGSF21-AS1', 'score': 0.23}, {'connected_gene': 'PIR34886', 'score': 0.23}, {'connected_gene': 'GC01P018288', 'score': 0.23}, {'connected_gene': 'IGSF21', 'score': 0.13}]
chr1 GH01I018175 18175667 18176799 0.75 [{'connected_gene': 'IGSF21-AS1', 'score': 0.77}, {'connected_gene': 'GC01P018158', 'score': 0.37}, {'connected_gene': 'IGSF21', 'score': 0.2}]
chr1 GH01I018090 18090588 18092492 0.46 [{'connected_gene': 'LINC01654', 'score': 5.37}, {'connected_gene': 'IGSF21', 'score': 0.37}, {'connected_gene': 'GC01M018090', 'score': 0.23}]
chr1 GH01I018301 18301852 18303700 0.6 [{'connected_gene': 'PIR34886', 'score': 0.37}, {'connected_gene': 'GC01P018288', 'score': 0.37}, {'connected_gene': 'GC01P018324', 'score': 0.34}, {'connected_gene': 'IGSF21', 'score': 0.08}]
chr1 GH01I018297 18297865 18299794 0.84 [{'connected_gene': 'PIR34886', 'score': 0.39}, {'connected_gene': 'GC01P018288', 'score': 0.39}, {'connected_gene': 'GC01P018324', 'score': 0.31}, {'connected_gene': 'IGSF21', 'score': 0.08}]
chr1 GH01I018341 18341184 18341468 0.54 [{'connected_gene': 'GC01P018324', 'score': 0.37}, {'connected_gene': 'GC01P018374', 'score': 0.29}, {'connected_gene': 'IGSF21', 'score': 0.07}]
chr1 GH01I018299 18299827 18299976 0.69 [{'connected_gene': 'PIR34886', 'score': 0.39}, {'connected_gene': 'GC01P018288', 'score': 0.39}, {'connected_gene': 'GC01P018324', 'score': 0.34}, {'connected_gene': 'IGSF21', 'score': 0.08}]
chr1 GH01I018300 18300172 18301439 0.43 [{'connected_gene': 'PIR34886', 'score': 0.39}, {'connected_gene': 'GC01P018288', 'score': 0.39}, {'connected_gene': 'GC01P018324', 'score': 0.34}, {'connected_gene': 'IGSF21', 'score': 0.08}]
chr1 GH01I018293 18293885 18297259 0.72 [{'connected_gene': 'PIR34886', 'score': 0.44}, {'connected_gene': 'GC01P018288', 'score': 0.44}, {'connected_gene': 'GC01P018324', 'score': 0.31}, {'connected_gene': 'IGSF21', 'score': 0.09}]
chr1 GH01I018316 18316927 18316996 0.74 [{'connected_gene': 'GC01P018324', 'score': 0.44}, {'connected_gene': 'PIR34886', 'score': 0.31}, {'connected_gene': 'GC01P018288', 'score': 0.31}, {'connected_gene': 'IGSF21', 'score': 0.08}]
chr1 GH01I018234 18234867 18235036 0.59 [{'connected_gene': 'PIR34886', 'score': 0.23}, {'connected_gene': 'GC01P018288', 'score': 0.23}, {'connected_gene': 'IGSF21-AS1', 'score': 0.22}, {'connected_gene': 'IGSF21', 'score': 0.13}]
chr1 GH01I018236 18236935 18239758 0.56 [{'connected_gene': 'PIR34886', 'score': 0.25}, {'connected_gene': 'GC01P018288', 'score': 0.25}, {'connected_gene': 'IGSF21-AS1', 'score': 0.22}, {'connected_gene': 'IGSF21', 'score': 0.12}]
chr1 GH01I018283 18283487 18283656 0.84 [{'connected_gene': 'PIR34886', 'score': 0.77}, {'connected_gene': 'GC01P018288', 'score': 0.77}, {'connected_gene': 'IGSF21-AS1', 'score': 0.15}, {'connected_gene': 'IGSF21', 'score': 0.1}]
chr1 GH01I018241 18241179 18244949 0.6 [{'connected_gene': 'PIR34886', 'score': 0.26}, {'connected_gene': 'GC01P018288', 'score': 0.26}, {'connected_gene': 'IGSF21-AS1', 'score': 0.21}, {'connected_gene': 'IGSF21', 'score': 0.12}]
chr1 GH01I018244 18244956 18252162 0.6 [{'connected_gene': 'PIR34886', 'score': 0.28}, {'connected_gene': 'GC01P018288', 'score': 0.28}, {'connected_gene': 'IGSF21-AS1', 'score': 0.2}, {'connected_gene': 'IGSF21', 'score': 0.11}]