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
ENST00000529034 [[36317837, 36317988], [36422546, 36422835], [36424847, 36424928], [36453402, 36453443]] None
ENST00000530639 [[36317837, 36317988], [36422546, 36422835], [36424847, 36424928], [36440804, 36440853], [36453402, 36453460], [36458934, 36459026], [36467849, 36467990], [36472758, 36472885], [36483891, 36485194]] [[36422671, 36422835], [36424847, 36424928], [36440804, 36440853], [36453402, 36453460], [36458934, 36459026], [36467849, 36467990], [36472758, 36472885], [36483891, 36484286]]
ENST00000532121 [[36371417, 36371615], [36422546, 36422835], [36424847, 36424928], [36440804, 36440808]] [[36422671, 36422835], [36424847, 36424928], [36440804, 36440808]]
ENST00000311599 [[36397534, 36397708], [36398178, 36398254], [36422546, 36422835], [36424847, 36424928], [36440804, 36440853], [36453402, 36453460], [36458934, 36459026], [36472758, 36472885], [36483891, 36486753]] [[36422749, 36422835], [36424847, 36424928], [36440804, 36440853], [36453402, 36453460], [36458934, 36459026], [36472758, 36472885], [36483891, 36484286]]
ENST00000378867 [[36397554, 36397708], [36398178, 36398254], [36422546, 36422835], [36424847, 36424928], [36440804, 36440853], [36453402, 36453460], [36458934, 36459026], [36467849, 36467990], [36472758, 36472885], [36483891, 36486754]] [[36422671, 36422835], [36424847, 36424928], [36440804, 36440853], [36453402, 36453460], [36458934, 36459026], [36467849, 36467990], [36472758, 36472885], [36483891, 36484286]]
ENST00000389693 [[36397587, 36397708], [36440804, 36440853], [36453402, 36453460], [36458934, 36459026], [36472758, 36472885], [36483891, 36486515]] None
ENST00000527487 [[36422614, 36422835], [36424847, 36424928], [36440804, 36440853], [36453402, 36453460], [36458934, 36459026], [36467849, 36467990], [36483891, 36483989]] [[36422671, 36422835], [36424847, 36424928], [36440804, 36440853], [36453402, 36453460], [36458934, 36459026], [36467849, 36467990], [36483891, 36483924]]
ENST00000531269 [[36317837, 36317988], [36318920, 36318981], [36350667, 36350891]] None
ENST00000527172 [[36322510, 36322620], [36415395, 36415561], [36422546, 36422814]] [[36422671, 36422814]]
ENST00000526728 [[36383657, 36383731], [36415395, 36415561], [36422546, 36422835], [36424847, 36424910]] [[36422671, 36422835], [36424847, 36424910]]
ENST00000524380 [[36397751, 36397787], [36398178, 36398254], [36415395, 36415561], [36422546, 36422816]] [[36422671, 36422816]]
ENST00000526682 [[36397930, 36398254], [36415395, 36415561], [36422546, 36422835], [36424847, 36424873]] [[36422671, 36422835], [36424847, 36424873]]
ENST00000532843 [[36397931, 36398254], [36400930, 36401017], [36402069, 36402138], [36403189, 36403245]] None
ENST00000527751 [[36397950, 36398254], [36415395, 36415561], [36417663, 36417746]] None
ENST00000530252 [[36397951, 36398254], [36422546, 36422820]] [[36422671, 36422820]]
ENST00000532578 [[36398093, 36398254], [36415395, 36415561], [36415945, 36415984]] None
ENST00000530050 [[36399071, 36399274], [36422546, 36422835], [36424847, 36424909]] [[36422671, 36422835], [36424847, 36424909]]
ENST00000526679 [[36419961, 36420377], [36422546, 36422835], [36424847, 36424925]] [[36422671, 36422835], [36424847, 36424925]]
ENST00000525672 [[36475499, 36475656], [36483891, 36484331]] None
ENST00000529020 [[36475508, 36475571], [36476218, 36476368], [36483891, 36484163]] None
ENST00000530627 [[36476838, 36476996], [36483891, 36485226]] None
NM_001160167 [[36317724, 36317988], [36422546, 36422835], [36424847, 36424928], [36440804, 36440853], [36453402, 36453460], [36458934, 36459026], [36467849, 36467990], [36472758, 36472885], [36483891, 36486754]] [[36422671, 36422835], [36424847, 36424928], [36440804, 36440853], [36453402, 36453460], [36458934, 36459026], [36467849, 36467990], [36472758, 36472885], [36483891, 36484286]]
NM_001160168 [[36397534, 36397708], [36440804, 36440853], [36453402, 36453460], [36458934, 36459026], [36472758, 36472885], [36483891, 36486754]] [[36397706, 36397708], [36440804, 36440853], [36453402, 36453460], [36458934, 36459026], [36472758, 36472885], [36483891, 36484286]]
NM_024841 [[36397534, 36397708], [36398178, 36398254], [36422546, 36422835], [36424847, 36424928], [36440804, 36440853], [36453402, 36453460], [36458934, 36459026], [36467849, 36467990], [36472758, 36472885], [36483891, 36486754]] [[36422671, 36422835], [36424847, 36424928], [36440804, 36440853], [36453402, 36453460], [36458934, 36459026], [36467849, 36467990], [36472758, 36472885], [36483891, 36484286]]
NM_001160169 [[36422546, 36422835], [36424847, 36424928], [36440804, 36440853], [36453402, 36453460], [36458934, 36459026], [36467849, 36467990], [36483891, 36486754]] [[36422671, 36422835], [36424847, 36424928], [36440804, 36440853], [36453402, 36453460], [36458934, 36459026], [36467849, 36467990], [36483891, 36483924]]
Promoter
Chrom Start End Description
chr11 36317689 36317699 CAGE_peak_11_at_PRR5L_5end
chr11 36317830 36317850 CAGE_peak_3_at_PRR5L_5end
chr11 36317852 36317861 CAGE_peak_12_at_PRR5L_5end
chr11 36397528 36397545 CAGE_peak_5_at_PRR5L_5end
chr11 36397731 36397745 CAGE_peak_14_at_PRR5L_5end
chr11 36397915 36397982 CAGE_peak_1_at_PRR5L_5end
chr11 36397983 36398010 CAGE_peak_2_at_PRR5L_5end
chr11 36399308 36399312 CAGE_peak_10_at_PRR5L_5end
chr11 36475492 36475517 CAGE_peak_8_at_PRR5L_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I036408 36408269 36413618 1.51 [{'connected_gene': 'PRR5L', 'score': 35.33}, {'connected_gene': 'TRAF6', 'score': 3.71}, {'connected_gene': 'COMMD9', 'score': 1.21}, {'connected_gene': 'ENSG00000255060', 'score': 0.37}, {'connected_gene': 'ENSG00000255186', 'score': 0.34}]
chr11 GH11I036499 36499280 36503812 0.92 [{'connected_gene': 'PRR5L', 'score': 17.5}, {'connected_gene': 'ENSG00000255060', 'score': 10.12}, {'connected_gene': 'TRAF6', 'score': 5.44}, {'connected_gene': 'GC11M036483', 'score': 0.39}]
chr11 GH11I036469 36469060 36471074 0.72 [{'connected_gene': 'PRR5L', 'score': 18.95}, {'connected_gene': 'ENSG00000255060', 'score': 11.85}, {'connected_gene': 'RAG1', 'score': 10.92}, {'connected_gene': 'TRAF6', 'score': 10.92}, {'connected_gene': 'COMMD9', 'score': 10.86}, {'connected_gene': 'GC11M036483', 'score': 0.37}, {'connected_gene': 'GC11P036439', 'score': 0.29}]
chr11 GH11I036419 36419867 36423167 1.47 [{'connected_gene': 'PRR5L', 'score': 12.02}, {'connected_gene': 'COMMD9', 'score': 1.78}, {'connected_gene': 'TRAF6', 'score': 1.6}, {'connected_gene': 'ENSG00000255060', 'score': 0.77}, {'connected_gene': 'ENSG00000255186', 'score': 0.29}]
chr11 GH11I036360 36360354 36365025 1.09 [{'connected_gene': 'PRR5L', 'score': 17.19}, {'connected_gene': 'ENSG00000255060', 'score': 11.96}, {'connected_gene': 'COMMD9', 'score': 11.3}, {'connected_gene': 'PIR61917', 'score': 0.44}, {'connected_gene': 'GC11P036377', 'score': 0.39}]
chr11 GH11I036344 36344525 36347592 0.83 [{'connected_gene': 'PRR5L', 'score': 16.03}, {'connected_gene': 'ENSG00000255060', 'score': 10.9}, {'connected_gene': 'COMMD9', 'score': 5.02}, {'connected_gene': 'PIR61917', 'score': 0.39}, {'connected_gene': 'ENSG00000254566', 'score': 0.34}]
chr11 GH11I036326 36326775 36327920 0.76 [{'connected_gene': 'PRR5L', 'score': 5.73}, {'connected_gene': 'COMMD9', 'score': 4.59}, {'connected_gene': 'ENSG00000254566', 'score': 0.77}, {'connected_gene': 'PIR61917', 'score': 0.31}]
chr11 GH11I036278 36278860 36279070 0.55 [{'connected_gene': 'PRR5L', 'score': 4.63}, {'connected_gene': 'COMMD9', 'score': 0.39}, {'connected_gene': 'GC11M036246', 'score': 0.31}]
chr11 GH11I036297 36296485 36298108 0.6 [{'connected_gene': 'PRR5L', 'score': 550.77}, {'connected_gene': 'ENSG00000255060', 'score': 9.78}, {'connected_gene': 'COMMD9', 'score': 9.72}, {'connected_gene': 'ENSG00000254566', 'score': 0.31}]
chr11 GH11I036328 36328624 36330674 0.57 [{'connected_gene': 'PRR5L', 'score': 5.69}, {'connected_gene': 'ENSG00000254566', 'score': 0.44}, {'connected_gene': 'PIR61917', 'score': 0.31}]
chr11 GH11I036370 36370935 36374381 0.83 [{'connected_gene': 'PRR5L', 'score': 15.28}, {'connected_gene': 'ENSG00000255060', 'score': 11.25}, {'connected_gene': 'GC11P036377', 'score': 0.77}, {'connected_gene': 'PIR61917', 'score': 0.37}]
chr11 GH11I036405 36405787 36407832 0.6 [{'connected_gene': 'PRR5L', 'score': 10.38}, {'connected_gene': 'ENSG00000255060', 'score': 0.37}, {'connected_gene': 'ENSG00000255186', 'score': 0.34}]
chr11 GH11I036375 36375801 36381434 2.23 [{'connected_gene': 'PRR5L', 'score': 559.92}, {'connected_gene': 'GC11P036377', 'score': 550.77}, {'connected_gene': 'ENSG00000255060', 'score': 11.99}, {'connected_gene': 'ENSG00000255186', 'score': 0.44}]
chr11 GH11I036398 36398324 36401400 1.5 [{'connected_gene': 'PRR5L', 'score': 550.15}, {'connected_gene': 'ENSG00000255060', 'score': 12.38}, {'connected_gene': 'ENSG00000255186', 'score': 0.39}]
chr11 GH11I036415 36415070 36415778 0.2 [{'connected_gene': 'PRR5L', 'score': 15.99}, {'connected_gene': 'ENSG00000255060', 'score': 0.39}, {'connected_gene': 'ENSG00000255186', 'score': 0.31}]
chr11 GH11I036416 36416248 36418653 0.43 [{'connected_gene': 'PRR5L', 'score': 17.24}, {'connected_gene': 'ENSG00000255060', 'score': 0.44}, {'connected_gene': 'ENSG00000255186', 'score': 0.29}]
chr11 GH11I036451 36451652 36457183 0.96 [{'connected_gene': 'PRR5L', 'score': 8.94}, {'connected_gene': 'GC11P036439', 'score': 0.39}, {'connected_gene': 'GC11M036483', 'score': 0.29}]
chr11 GH11I036349 36349420 36350400 0.86 [{'connected_gene': 'PRR5L', 'score': 16.76}, {'connected_gene': 'ENSG00000255060', 'score': 10.64}, {'connected_gene': 'PIR61917', 'score': 0.44}, {'connected_gene': 'ENSG00000254566', 'score': 0.31}]
chr11 GH11I036448 36448071 36448237 0.57 [{'connected_gene': 'PRR5L', 'score': 6.98}, {'connected_gene': 'GC11P036439', 'score': 0.44}, {'connected_gene': 'GC11M036483', 'score': 0.28}]
chr11 GH11I036430 36430768 36433316 0.94 [{'connected_gene': 'PRR5L', 'score': 7.55}, {'connected_gene': 'GC11P036439', 'score': 0.44}, {'connected_gene': 'ENSG00000255060', 'score': 0.44}]
chr11 GH11I036450 36450001 36450600 0.66 [{'connected_gene': 'PRR5L', 'score': 9.35}, {'connected_gene': 'GC11P036439', 'score': 0.39}, {'connected_gene': 'GC11M036483', 'score': 0.28}]
chr11 GH11I036296 36296239 36296298 0.5 [{'connected_gene': 'PRR5L', 'score': 550.77}, {'connected_gene': 'ENSG00000254566', 'score': 0.31}]
chr11 GH11I036507 36507872 36513056 2.09 [{'connected_gene': 'TRAF6', 'score': 569.26}, {'connected_gene': 'GC11P036511', 'score': 550.77}, {'connected_gene': 'RAG1', 'score': 550.77}, {'connected_gene': 'ENSG00000280331', 'score': 550.77}, {'connected_gene': 'GC11P036512', 'score': 550.77}, {'connected_gene': 'PRR5L', 'score': 5.77}, {'connected_gene': 'COMMD9', 'score': 4.77}, {'connected_gene': 'GC11M036546', 'score': 0.28}]
chr11 GH11I036619 36619436 36619674 0.83 [{'connected_gene': 'RAG2', 'score': 5.9}, {'connected_gene': 'RAG1', 'score': 5.11}, {'connected_gene': 'PRR5L', 'score': 3.46}, {'connected_gene': 'GC11M036597', 'score': 0.39}, {'connected_gene': 'C11orf74', 'score': 0.31}, {'connected_gene': 'GC11M036644', 'score': 0.28}]
chr11 GH11I036292 36292600 36292800 0.72 [{'connected_gene': 'RAG1', 'score': 10.63}, {'connected_gene': 'TRAF6', 'score': 10.63}, {'connected_gene': 'ENSG00000255060', 'score': 10.31}, {'connected_gene': 'COMMD9', 'score': 0.77}, {'connected_gene': 'PRR5L', 'score': 0.77}]
chr11 GH11I036293 36292411 36292560 0.78 [{'connected_gene': 'RAG1', 'score': 10.63}, {'connected_gene': 'TRAF6', 'score': 10.63}, {'connected_gene': 'ENSG00000255060', 'score': 10.31}, {'connected_gene': 'COMMD9', 'score': 0.77}, {'connected_gene': 'PRR5L', 'score': 0.77}]
chr11 GH11I036493 36493091 36493202 0.54 [{'connected_gene': 'COMMD9', 'score': 10.89}, {'connected_gene': 'ENSG00000255060', 'score': 10.66}, {'connected_gene': 'PRR5L', 'score': 10.49}, {'connected_gene': 'GC11M036483', 'score': 0.44}, {'connected_gene': 'TRAF6', 'score': 0.37}]
chr11 GH11I036492 36492831 36493000 0.62 [{'connected_gene': 'COMMD9', 'score': 10.89}, {'connected_gene': 'ENSG00000255060', 'score': 10.66}, {'connected_gene': 'PRR5L', 'score': 10.49}, {'connected_gene': 'GC11M036483', 'score': 0.44}, {'connected_gene': 'TRAF6', 'score': 0.37}]
chr11 GH11I036309 36309653 36309986 0.25 [{'connected_gene': 'COMMD9', 'score': 11.23}, {'connected_gene': 'ENSG00000255060', 'score': 10.87}, {'connected_gene': 'PRR5L', 'score': 6.01}, {'connected_gene': 'ENSG00000254566', 'score': 0.39}]
chr11 GH11I036108 36108405 36112610 1.14 [{'connected_gene': 'LDLRAD3', 'score': 10.06}, {'connected_gene': 'TRIM44', 'score': 9.5}, {'connected_gene': 'PRR5L', 'score': 6.14}, {'connected_gene': 'PIR54286', 'score': 0.34}, {'connected_gene': 'LOC101928510', 'score': 0.29}]
chr11 GH11I036593 36593847 36595773 2.26 [{'connected_gene': 'C11orf74', 'score': 550.77}, {'connected_gene': 'TRAF6', 'score': 13.32}, {'connected_gene': 'PRR5L', 'score': 6.05}, {'connected_gene': 'RAG2', 'score': 0.77}]
chr11 GH11I036564 36564414 36565000 1 [{'connected_gene': 'C11orf74', 'score': 12.07}, {'connected_gene': 'RAG2', 'score': 12.05}, {'connected_gene': 'PRR5L', 'score': 4.87}, {'connected_gene': 'GC11P036555', 'score': 0.44}, {'connected_gene': 'RAG1', 'score': 0.23}]
chr11 GH11I036709 36709353 36709385 0.22 [{'connected_gene': 'LOC105376631', 'score': 550.77}, {'connected_gene': 'RAG2', 'score': 10.38}, {'connected_gene': 'C11orf74', 'score': 10.37}, {'connected_gene': 'PRR5L', 'score': 5.84}, {'connected_gene': 'LOC100422241', 'score': 0.39}]
chr11 GH11I036696 36696412 36698232 0.31 [{'connected_gene': 'LOC100422241', 'score': 550.77}, {'connected_gene': 'PRR5L', 'score': 5.14}, {'connected_gene': 'LOC105376631', 'score': 0.39}]
chr11 GH11I036487 36487164 36488983 0.4 [{'connected_gene': 'GC11M036483', 'score': 550.77}, {'connected_gene': 'PRR5L', 'score': 17.72}, {'connected_gene': 'TRAF6', 'score': 16.98}, {'connected_gene': 'RAG1', 'score': 12.13}, {'connected_gene': 'COMMD9', 'score': 11.12}, {'connected_gene': 'ENSG00000255060', 'score': 10.71}]
chr11 GH11I036390 36390999 36391669 1.07 [{'connected_gene': 'ENSG00000255060', 'score': 11.44}, {'connected_gene': 'PRR5L', 'score': 4.68}, {'connected_gene': 'COMMD9', 'score': 1.38}, {'connected_gene': 'ENSG00000255186', 'score': 0.77}]
chr11 GH11I036657 36657112 36657213 0.22 [{'connected_gene': 'GC11M036644', 'score': 550.77}, {'connected_gene': 'PRR5L', 'score': 2.84}, {'connected_gene': 'GC11P036666', 'score': 0.44}, {'connected_gene': 'C11orf74', 'score': 0.21}]
chr11 GH11I036367 36367118 36369430 0.46 [{'connected_gene': 'ENSG00000255060', 'score': 11.24}, {'connected_gene': 'PRR5L', 'score': 9.68}, {'connected_gene': 'GC11P036377', 'score': 0.44}, {'connected_gene': 'PIR61917', 'score': 0.39}]
chr11 GH11I036404 36404583 36404717 0.51 [{'connected_gene': 'ENSG00000255060', 'score': 12.24}, {'connected_gene': 'ENSG00000255186', 'score': 0.37}, {'connected_gene': 'PRR5L', 'score': 0.14}]
chr11 GH11I036308 36308711 36308840 0.2 [{'connected_gene': 'ENSG00000255060', 'score': 10.87}, {'connected_gene': 'ENSG00000254566', 'score': 0.39}, {'connected_gene': 'PRR5L', 'score': 0.39}]
chr11 GH11I036354 36354471 36354620 0.9 [{'connected_gene': 'ENSG00000255060', 'score': 11.52}, {'connected_gene': 'PIR61917', 'score': 0.77}, {'connected_gene': 'ENSG00000254566', 'score': 0.29}, {'connected_gene': 'PRR5L', 'score': 0.22}]
chr11 GH11I036376 36375531 36375680 0.51 [{'connected_gene': 'GC11P036377', 'score': 550.77}, {'connected_gene': 'ENSG00000255060', 'score': 11.25}, {'connected_gene': 'PRR5L', 'score': 9.67}, {'connected_gene': 'PIR61917', 'score': 0.37}]
chr11 GH11I036425 36425461 36426520 0.78 [{'connected_gene': 'ENSG00000255060', 'score': 550.77}, {'connected_gene': 'ENSG00000255186', 'score': 0.28}, {'connected_gene': 'PRR5L', 'score': 0.13}]
chr11 GH11I036355 36355820 36357011 0.77 [{'connected_gene': 'PIR61917', 'score': 550.77}, {'connected_gene': 'ENSG00000255060', 'score': 11.95}, {'connected_gene': 'PRR5L', 'score': 10.74}, {'connected_gene': 'ENSG00000254566', 'score': 0.29}]
chr11 GH11I036300 36300587 36300921 0.31 [{'connected_gene': 'ENSG00000255060', 'score': 10.57}, {'connected_gene': 'PRR5L', 'score': 0.77}, {'connected_gene': 'ENSG00000254566', 'score': 0.34}]
chr11 GH11I036356 36354731 36354940 0.83 [{'connected_gene': 'ENSG00000255060', 'score': 11.52}, {'connected_gene': 'PIR61917', 'score': 0.77}, {'connected_gene': 'ENSG00000254566', 'score': 0.29}, {'connected_gene': 'PRR5L', 'score': 0.22}]
chr11 GH11I036402 36402594 36404417 0.58 [{'connected_gene': 'ENSG00000255060', 'score': 12.41}, {'connected_gene': 'ENSG00000255186', 'score': 0.37}, {'connected_gene': 'PRR5L', 'score': 0.14}]
chr11 GH11I036426 36426571 36426720 0.51 [{'connected_gene': 'ENSG00000255060', 'score': 550.77}, {'connected_gene': 'GC11P036439', 'score': 0.39}, {'connected_gene': 'PRR5L', 'score': 0.12}]
chr11 GH11I036394 36394211 36394340 0.4 [{'connected_gene': 'ENSG00000255060', 'score': 11.99}, {'connected_gene': 'ENSG00000255186', 'score': 0.44}, {'connected_gene': 'PRR5L', 'score': 0.15}]
chr11 GH11I036353 36353031 36353180 0.38 [{'connected_gene': 'ENSG00000255060', 'score': 11.52}, {'connected_gene': 'PIR61917', 'score': 0.77}, {'connected_gene': 'ENSG00000254566', 'score': 0.31}, {'connected_gene': 'PRR5L', 'score': 0.22}]
chr11 GH11I036381 36381466 36384760 0.38 [{'connected_gene': 'ENSG00000255060', 'score': 11.85}, {'connected_gene': 'COMMD9', 'score': 10.33}, {'connected_gene': 'PRR5L', 'score': 10.01}, {'connected_gene': 'ENSG00000255186', 'score': 0.77}, {'connected_gene': 'GC11P036377', 'score': 0.44}]
chr11 GH11I036387 36387616 36387732 0.43 [{'connected_gene': 'ENSG00000255186', 'score': 550.77}, {'connected_gene': 'ENSG00000255060', 'score': 11.87}, {'connected_gene': 'COMMD9', 'score': 10.32}, {'connected_gene': 'PRR5L', 'score': 4.64}]
chr11 GH11I036384 36384772 36386069 1.01 [{'connected_gene': 'ENSG00000255186', 'score': 550.77}, {'connected_gene': 'ENSG00000255060', 'score': 11.85}, {'connected_gene': 'COMMD9', 'score': 10.32}, {'connected_gene': 'TRAF6', 'score': 3.24}, {'connected_gene': 'PRR5L', 'score': 1.33}, {'connected_gene': 'GC11P036377', 'score': 0.44}]
chr11 GH11I036312 36312229 36313400 0.64 [{'connected_gene': 'ENSG00000255060', 'score': 10.95}, {'connected_gene': 'COMMD9', 'score': 10.78}, {'connected_gene': 'RAG1', 'score': 10.04}, {'connected_gene': 'TRAF6', 'score': 10.04}, {'connected_gene': 'RAG2', 'score': 9.58}, {'connected_gene': 'C11orf74', 'score': 9.2}, {'connected_gene': 'ENSG00000254566', 'score': 0.39}, {'connected_gene': 'PRR5L', 'score': 0.37}]