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
ENST00000335793 [[71279762, 71282751], [71308031, 71308314]] [[71281568, 71282639]]
ENST00000439510 [[71279763, 71282261], [71282471, 71282751], [71308031, 71308132]] [[71281568, 71282261], [71282471, 71282639]]
ENST00000581014 [[71281316, 71281719], [71282522, 71282751], [71308031, 71308136]] [[71281596, 71281719], [71282522, 71282639]]
ENST00000580315 [[71282257, 71282751], [71307019, 71307547]] [[71282257, 71282639]]
ENST00000579611 [[71282420, 71282751], [71282852, 71282992], [71308031, 71308140]] [[71282420, 71282639]]
ENST00000581045 [[71282656, 71282751], [71305893, 71306337]] None
ENST00000582303 [[71302836, 71303223], [71303321, 71303453], [71305893, 71306034]] None
ENST00000578516 [[71307192, 71307651], [71308031, 71308144]] None
NM_012121 [[71279762, 71282751], [71308031, 71308143]] [[71281568, 71282639]]
Promoter
Chrom Start End Description
chr17 71307043 71307065 CAGE_peak_3_at_CDC42EP4_5end
chr17 71307213 71307241 CAGE_peak_2_at_CDC42EP4_5end
chr17 71308119 71308159 CAGE_peak_1_at_CDC42EP4_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I073191 73191423 73194212 2.04 [{'connected_gene': 'COG1', 'score': 550.77}, {'connected_gene': 'C17orf80', 'score': 26.49}, {'connected_gene': 'SSTR2', 'score': 11.34}, {'connected_gene': 'FAM104A', 'score': 10.96}, {'connected_gene': 'CDC42EP4', 'score': 9.96}, {'connected_gene': 'ENSG00000277728', 'score': 0.39}, {'connected_gene': 'ENSG00000264860', 'score': 0.31}]
chr17 GH17I074248 74248959 74251350 0.8 [{'connected_gene': 'NUP85', 'score': 24.83}, {'connected_gene': 'NAT9', 'score': 19.31}, {'connected_gene': 'TTYH2', 'score': 18.47}, {'connected_gene': 'NT5C', 'score': 17.36}, {'connected_gene': 'DNAI2', 'score': 17.23}, {'connected_gene': 'RN7SL573P', 'score': 12.46}, {'connected_gene': 'MGC16275', 'score': 11.63}, {'connected_gene': 'RPL38', 'score': 11.6}, {'connected_gene': 'CDC42EP4', 'score': 10.01}, {'connected_gene': 'ENSG00000264272', 'score': 0.39}]
chr17 GH17I073189 73189642 73189831 0.85 [{'connected_gene': 'SSTR2', 'score': 11.37}, {'connected_gene': 'C17orf80', 'score': 10.96}, {'connected_gene': 'FAM104A', 'score': 10.94}, {'connected_gene': 'CDC42EP4', 'score': 9.96}, {'connected_gene': 'COG1', 'score': 0.77}, {'connected_gene': 'GC17P073175', 'score': 0.39}, {'connected_gene': 'ENSG00000264860', 'score': 0.34}]
chr17 GH17I073346 73346378 73348323 0.86 [{'connected_gene': 'CPSF4L', 'score': 11.99}, {'connected_gene': 'CDC42EP4', 'score': 11.86}, {'connected_gene': 'FAM104A', 'score': 10.6}, {'connected_gene': 'C17orf80', 'score': 10.59}, {'connected_gene': 'GC17P073336', 'score': 0.39}, {'connected_gene': 'GC17M073289', 'score': 0.39}, {'connected_gene': 'SDK2', 'score': 0.06}]
chr17 GH17I073363 73363769 73364631 0.51 [{'connected_gene': 'CPSF4L', 'score': 12.6}, {'connected_gene': 'CDC42EP4', 'score': 11.97}, {'connected_gene': 'GC17M073289', 'score': 0.77}, {'connected_gene': 'PIR43433', 'score': 0.31}, {'connected_gene': 'SDK2', 'score': 0.06}]
chr17 GH17I073182 73182702 73182851 0.57 [{'connected_gene': 'C17orf80', 'score': 11.02}, {'connected_gene': 'FAM104A', 'score': 11.0}, {'connected_gene': 'CDC42EP4', 'score': 10.59}, {'connected_gene': 'SLC39A11', 'score': 10.44}, {'connected_gene': 'COG1', 'score': 0.44}, {'connected_gene': 'GC17P073175', 'score': 0.44}, {'connected_gene': 'ENSG00000264860', 'score': 0.37}]
chr17 GH17I073184 73184401 73184600 0.56 [{'connected_gene': 'C17orf80', 'score': 11.02}, {'connected_gene': 'FAM104A', 'score': 11.0}, {'connected_gene': 'CDC42EP4', 'score': 10.59}, {'connected_gene': 'SLC39A11', 'score': 10.44}, {'connected_gene': 'COG1', 'score': 0.44}, {'connected_gene': 'GC17P073175', 'score': 0.44}, {'connected_gene': 'ENSG00000264860', 'score': 0.37}]
chr17 GH17I073770 73770331 73771268 0.91 [{'connected_gene': 'C17orf80', 'score': 11.54}, {'connected_gene': 'SSTR2', 'score': 11.35}, {'connected_gene': 'CDC42EP4', 'score': 9.69}, {'connected_gene': 'GC17M073754', 'score': 0.39}, {'connected_gene': 'LINC02092', 'score': 0.37}, {'connected_gene': 'LINC00469', 'score': 0.22}]
chr17 GH17I073298 73298092 73298890 0.98 [{'connected_gene': 'C17orf80', 'score': 16.14}, {'connected_gene': 'CPSF4L', 'score': 11.74}, {'connected_gene': 'FAM104A', 'score': 11.21}, {'connected_gene': 'GC17M073290', 'score': 0.77}, {'connected_gene': 'GC17M073288', 'score': 0.77}, {'connected_gene': 'CDC42EP4', 'score': 0.39}, {'connected_gene': 'GC17P073281', 'score': 0.37}, {'connected_gene': 'GC17M073289', 'score': 0.21}]
chr17 GH17I072444 72444099 72447917 1.6 [{'connected_gene': 'C17orf80', 'score': 27.97}, {'connected_gene': 'CDC42EP4', 'score': 20.16}, {'connected_gene': 'COG1', 'score': 10.5}, {'connected_gene': 'SOX9', 'score': 2.28}, {'connected_gene': 'GC17P072434', 'score': 0.39}, {'connected_gene': 'GC17M072441', 'score': 0.19}, {'connected_gene': 'LINC00673', 'score': 0.11}, {'connected_gene': 'LINC00511', 'score': 0.08}]
chr17 GH17I073320 73320533 73321259 0.2 [{'connected_gene': 'C17orf80', 'score': 4.73}, {'connected_gene': 'CDC42EP4', 'score': 0.44}, {'connected_gene': 'GC17P073336', 'score': 0.39}, {'connected_gene': 'GC17M073289', 'score': 0.26}]
chr17 GH17I073474 73474071 73474934 1.48 [{'connected_gene': 'CDC42EP4', 'score': 37.32}, {'connected_gene': 'COG1', 'score': 18.93}, {'connected_gene': 'SSTR2', 'score': 10.32}, {'connected_gene': 'C17orf80', 'score': 10.26}, {'connected_gene': 'GC17M073379', 'score': 0.37}, {'connected_gene': 'GC17P073491', 'score': 0.37}, {'connected_gene': 'SDK2', 'score': 0.1}]
chr17 GH17I073277 73277777 73280115 1.3 [{'connected_gene': 'CDC42EP4', 'score': 12.32}, {'connected_gene': 'FAM104A', 'score': 10.99}, {'connected_gene': 'C17orf80', 'score': 10.97}, {'connected_gene': 'CPSF4L', 'score': 8.41}, {'connected_gene': 'COG1', 'score': 5.22}, {'connected_gene': 'GC17P073281', 'score': 0.77}, {'connected_gene': 'PIR39589', 'score': 0.44}]
chr17 GH17I073283 73283294 73285265 0.86 [{'connected_gene': 'CDC42EP4', 'score': 12.0}, {'connected_gene': 'FAM104A', 'score': 10.87}, {'connected_gene': 'C17orf80', 'score': 10.85}, {'connected_gene': 'CPSF4L', 'score': 9.56}, {'connected_gene': 'GC17P073281', 'score': 0.77}, {'connected_gene': 'GC17M073288', 'score': 0.37}]
chr17 GH17I073268 73268588 73268981 0.66 [{'connected_gene': 'CDC42EP4', 'score': 17.69}, {'connected_gene': 'FAM104A', 'score': 11.52}, {'connected_gene': 'C17orf80', 'score': 11.5}, {'connected_gene': 'PIR39589', 'score': 0.77}, {'connected_gene': 'CPSF4L', 'score': 0.44}]
chr17 GH17I073269 73268428 73268498 0.4 [{'connected_gene': 'CDC42EP4', 'score': 11.77}, {'connected_gene': 'FAM104A', 'score': 11.52}, {'connected_gene': 'C17orf80', 'score': 11.5}, {'connected_gene': 'PIR39589', 'score': 0.77}, {'connected_gene': 'CPSF4L', 'score': 0.44}]
chr17 GH17I073285 73285834 73286675 0.43 [{'connected_gene': 'CDC42EP4', 'score': 12.0}, {'connected_gene': 'FAM104A', 'score': 10.87}, {'connected_gene': 'C17orf80', 'score': 10.85}, {'connected_gene': 'GC17P073281', 'score': 0.77}, {'connected_gene': 'GC17M073288', 'score': 0.37}]
chr17 GH17I073288 73285502 73285830 0.52 [{'connected_gene': 'CDC42EP4', 'score': 12.0}, {'connected_gene': 'FAM104A', 'score': 10.87}, {'connected_gene': 'C17orf80', 'score': 10.85}, {'connected_gene': 'GC17P073281', 'score': 0.77}, {'connected_gene': 'GC17M073288', 'score': 0.37}]
chr17 GH17I073286 73286922 73287531 0.77 [{'connected_gene': 'CDC42EP4', 'score': 12.03}, {'connected_gene': 'FAM104A', 'score': 10.85}, {'connected_gene': 'C17orf80', 'score': 10.85}, {'connected_gene': 'GC17P073281', 'score': 0.44}, {'connected_gene': 'GC17M073290', 'score': 0.39}, {'connected_gene': 'GC17M073288', 'score': 0.39}, {'connected_gene': 'GC17M073289', 'score': 0.19}]
chr17 GH17I073348 73348502 73350156 0.78 [{'connected_gene': 'CDC42EP4', 'score': 12.07}, {'connected_gene': 'CPSF4L', 'score': 11.98}, {'connected_gene': 'FAM104A', 'score': 11.0}, {'connected_gene': 'C17orf80', 'score': 10.99}, {'connected_gene': 'SDK2', 'score': 6.28}, {'connected_gene': 'GC17P073336', 'score': 0.39}, {'connected_gene': 'GC17M073289', 'score': 0.39}]
chr17 GH17I073287 73287895 73295605 1.95 [{'connected_gene': 'CDC42EP4', 'score': 18.85}, {'connected_gene': 'CPSF4L', 'score': 17.01}, {'connected_gene': 'FAM104A', 'score': 11.23}, {'connected_gene': 'C17orf80', 'score': 11.22}, {'connected_gene': 'GC17P073281', 'score': 0.39}, {'connected_gene': 'GC17M073290', 'score': 0.39}, {'connected_gene': 'GC17M073288', 'score': 0.39}, {'connected_gene': 'GC17M073289', 'score': 0.2}]
chr17 GH17I073355 73355765 73358780 0.97 [{'connected_gene': 'CDC42EP4', 'score': 12.04}, {'connected_gene': 'C17orf80', 'score': 10.99}, {'connected_gene': 'FAM104A', 'score': 10.99}, {'connected_gene': 'COG1', 'score': 4.91}, {'connected_gene': 'GC17M073289', 'score': 0.77}, {'connected_gene': 'GC17P073336', 'score': 0.34}, {'connected_gene': 'SDK2', 'score': 0.06}]
chr17 GH17I073303 73303276 73313066 2.66 [{'connected_gene': 'CDC42EP4', 'score': 558.43}, {'connected_gene': 'C17orf80', 'score': 15.12}, {'connected_gene': 'FAM104A', 'score': 11.35}, {'connected_gene': 'SSTR2', 'score': 9.78}, {'connected_gene': 'GC17M073290', 'score': 0.44}, {'connected_gene': 'GC17M073289', 'score': 0.23}]
chr17 GH17I073358 73358802 73358951 0.4 [{'connected_gene': 'CDC42EP4', 'score': 11.45}, {'connected_gene': 'C17orf80', 'score': 10.32}, {'connected_gene': 'FAM104A', 'score': 10.32}, {'connected_gene': 'GC17M073289', 'score': 0.77}, {'connected_gene': 'GC17P073336', 'score': 0.34}, {'connected_gene': 'SDK2', 'score': 0.06}]
chr17 GH17I073267 73267631 73268139 0.6 [{'connected_gene': 'CDC42EP4', 'score': 11.82}, {'connected_gene': 'C17orf80', 'score': 5.03}, {'connected_gene': 'PIR39589', 'score': 0.77}, {'connected_gene': 'CPSF4L', 'score': 0.44}]
chr17 GH17I073334 73334636 73344996 1.53 [{'connected_gene': 'CDC42EP4', 'score': 13.46}, {'connected_gene': 'SDK2', 'score': 6.23}, {'connected_gene': 'SSTR2', 'score': 3.22}, {'connected_gene': 'GC17P073336', 'score': 0.77}, {'connected_gene': 'GC17M073289', 'score': 0.34}]
chr17 GH17I072617 72617425 72619173 1.25 [{'connected_gene': 'CDC42EP4', 'score': 10.52}, {'connected_gene': 'RPL32P33', 'score': 0.44}, {'connected_gene': 'LINC00511', 'score': 0.34}, {'connected_gene': 'LINC00673', 'score': 0.31}]
chr17 GH17I073319 73319566 73319835 0.31 [{'connected_gene': 'CDC42EP4', 'score': 0.44}, {'connected_gene': 'GC17P073336', 'score': 0.37}, {'connected_gene': 'GC17M073289', 'score': 0.26}]
chr17 GH17I073314 73314971 73315747 0.2 [{'connected_gene': 'CDC42EP4', 'score': 6.84}, {'connected_gene': 'GC17P073336', 'score': 0.37}, {'connected_gene': 'GC17M073289', 'score': 0.25}]
chr17 GH17I073323 73323309 73326000 1.02 [{'connected_gene': 'CDC42EP4', 'score': 7.02}, {'connected_gene': 'GC17P073336', 'score': 0.39}, {'connected_gene': 'GC17M073289', 'score': 0.28}]
chr17 GH17I073316 73316871 73318604 0.88 [{'connected_gene': 'CDC42EP4', 'score': 0.44}, {'connected_gene': 'GC17P073336', 'score': 0.37}, {'connected_gene': 'GC17M073289', 'score': 0.26}]
chr17 GH17I073091 73091496 73093331 2.27 [{'connected_gene': 'SLC39A11', 'score': 552.74}, {'connected_gene': 'CDC42EP4', 'score': 10.79}, {'connected_gene': 'ATG12P1', 'score': 0.34}]
chr17 GH17I073951 73951939 73953400 0.93 [{'connected_gene': 'LOC105371888', 'score': 550.77}, {'connected_gene': 'CDC42EP4', 'score': 10.74}, {'connected_gene': 'LINC00469', 'score': 10.48}, {'connected_gene': 'GC17P074009', 'score': 0.22}]
chr17 GH17I073299 73299361 73301051 0.65 [{'connected_gene': 'GC17M073290', 'score': 550.77}, {'connected_gene': 'GC17M073288', 'score': 550.77}, {'connected_gene': 'CPSF4L', 'score': 11.55}, {'connected_gene': 'FAM104A', 'score': 10.04}, {'connected_gene': 'C17orf80', 'score': 10.03}, {'connected_gene': 'CDC42EP4', 'score': 5.93}, {'connected_gene': 'GC17P073281', 'score': 0.37}, {'connected_gene': 'GC17M073289', 'score': 0.21}]
chr17 GH17I073271 73271103 73271621 0.72 [{'connected_gene': 'PIR39589', 'score': 550.77}, {'connected_gene': 'CDC42EP4', 'score': 12.29}, {'connected_gene': 'FAM104A', 'score': 11.52}, {'connected_gene': 'C17orf80', 'score': 11.5}, {'connected_gene': 'CPSF4L', 'score': 0.44}]
chr17 GH17I073280 73280290 73280505 0.2 [{'connected_gene': 'GC17P073281', 'score': 550.77}, {'connected_gene': 'CDC42EP4', 'score': 12.32}, {'connected_gene': 'FAM104A', 'score': 10.99}, {'connected_gene': 'C17orf80', 'score': 10.97}, {'connected_gene': 'CPSF4L', 'score': 9.19}, {'connected_gene': 'PIR39589', 'score': 0.44}]
chr17 GH17I073281 73281633 73282949 0.75 [{'connected_gene': 'GC17P073281', 'score': 550.77}, {'connected_gene': 'CDC42EP4', 'score': 12.0}, {'connected_gene': 'FAM104A', 'score': 10.87}, {'connected_gene': 'C17orf80', 'score': 10.85}, {'connected_gene': 'CPSF4L', 'score': 9.75}, {'connected_gene': 'GC17M073288', 'score': 0.37}]
chr17 GH17I073272 73272600 73273164 0.86 [{'connected_gene': 'PIR39589', 'score': 550.77}, {'connected_gene': 'CDC42EP4', 'score': 12.3}, {'connected_gene': 'FAM104A', 'score': 11.0}, {'connected_gene': 'C17orf80', 'score': 10.99}, {'connected_gene': 'GC17P073281', 'score': 0.44}]
chr17 GH17I073359 73359893 73361531 0.87 [{'connected_gene': 'GC17M073289', 'score': 550.77}, {'connected_gene': 'CDC42EP4', 'score': 11.89}, {'connected_gene': 'C17orf80', 'score': 11.27}, {'connected_gene': 'FAM104A', 'score': 11.27}, {'connected_gene': 'GC17P073336', 'score': 0.31}, {'connected_gene': 'SDK2', 'score': 0.06}]
chr17 GH17I073333 73333256 73334588 0.43 [{'connected_gene': 'GC17P073336', 'score': 550.77}, {'connected_gene': 'CDC42EP4', 'score': 0.34}, {'connected_gene': 'GC17M073289', 'score': 0.31}, {'connected_gene': 'SDK2', 'score': 0.06}]

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