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
ENST00000380956 [[391738, 391809], [393097, 393368], [394820, 395007], [395846, 395935], [397107, 397252], [398827, 398935], [401423, 401777], [405017, 405130], [407454, 411447]] [[393152, 393368], [394820, 395007], [395846, 395935], [397107, 397252], [398827, 398935], [401423, 401777], [405017, 405130], [407454, 407598]]
ENST00000468485 [[391751, 391809], [394820, 395007], [395846, 396074]] None
ENST00000495137 [[391767, 391809], [394820, 395007], [395846, 395935], [397107, 397546]] None
ENST00000493114 [[391767, 391809], [393097, 393368], [394820, 395007], [395846, 395935], [397107, 397252], [398827, 398935], [401423, 401777], [405017, 405130], [406765, 406899], [407454, 407618]] [[393152, 393368], [394820, 395007], [395846, 395935], [397107, 397252], [398827, 398935], [401423, 401777], [405017, 405130], [406765, 406786]]
ENST00000469834 [[393278, 393368], [394820, 395007], [395846, 395915]] None
NM_001195286 [[391738, 391809], [393097, 393368], [394820, 395007], [395846, 395935], [397110, 397252], [398827, 398935], [401423, 401777], [405017, 405130], [407454, 411443]] [[393152, 393368], [394820, 395007], [395846, 395935], [397110, 397252], [398827, 398935], [401423, 401777], [405017, 405130], [407454, 407598]]
NR_046000 [[391738, 391809], [393097, 393368], [394820, 395007], [395846, 395935], [397110, 397252], [398827, 398935], [401423, 401777], [405017, 405130], [406765, 406899], [407454, 411443]] None
NM_002460 [[391738, 391809], [393097, 393368], [394820, 395007], [395846, 395935], [397107, 397252], [398827, 398935], [401423, 401777], [405017, 405130], [407454, 411443]] [[393152, 393368], [394820, 395007], [395846, 395935], [397107, 397252], [398827, 398935], [401423, 401777], [405017, 405130], [407454, 407598]]
Promoter
Chrom Start End Description
chr6 391743 391759 CAGE_peak_1_at_IRF4_5end
chr6 396521 396527 CAGE_peak_4_at_IRF4_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I000290 290008 300044 2.72 [{'connected_gene': 'DUSP22', 'score': 554.19}, {'connected_gene': 'EXOC2', 'score': 10.62}, {'connected_gene': 'IRF4', 'score': 9.54}, {'connected_gene': 'LOC102723922', 'score': 0.77}, {'connected_gene': 'GC06P000310', 'score': 0.37}]
chr6 GH06I000390 390872 394490 2.35 [{'connected_gene': 'IRF4', 'score': 576.18}, {'connected_gene': 'CICP18', 'score': 11.09}, {'connected_gene': 'ENSG00000205653', 'score': 10.57}, {'connected_gene': 'DUSP22', 'score': 3.3}, {'connected_gene': 'EXOC2', 'score': 1.25}, {'connected_gene': 'GC06P000406', 'score': 0.39}]
chr6 GH06I000219 219489 222459 1.54 [{'connected_gene': 'IRF4', 'score': 12.77}, {'connected_gene': 'DUSP22', 'score': 1.92}, {'connected_gene': 'PIR44572', 'score': 0.44}, {'connected_gene': 'GC06M000230', 'score': 0.44}, {'connected_gene': 'LOC285766', 'score': 0.37}]
chr6 GH06I000225 224385 226982 1.43 [{'connected_gene': 'IRF4', 'score': 13.5}, {'connected_gene': 'ENSG00000205653', 'score': 13.03}, {'connected_gene': 'DUSP22', 'score': 1.72}, {'connected_gene': 'PIR44572', 'score': 0.77}, {'connected_gene': 'GC06M000230', 'score': 0.77}, {'connected_gene': 'LOC285766', 'score': 0.34}]
chr6 GH06I000316 316370 318580 1.27 [{'connected_gene': 'IRF4', 'score': 14.32}, {'connected_gene': 'ENSG00000205653', 'score': 10.83}, {'connected_gene': 'DUSP22', 'score': 2.41}, {'connected_gene': 'PIR42293', 'score': 0.77}, {'connected_gene': 'GC06P000310', 'score': 0.44}]
chr6 GH06I000422 422274 423865 1.27 [{'connected_gene': 'IRF4', 'score': 10.09}, {'connected_gene': 'DUSP22', 'score': 1.57}, {'connected_gene': 'GC06P000406', 'score': 0.37}, {'connected_gene': 'GC06P000444', 'score': 0.34}]
chr6 GH06I000326 326986 328930 1.25 [{'connected_gene': 'IRF4', 'score': 11.66}, {'connected_gene': 'ENSG00000205653', 'score': 10.34}, {'connected_gene': 'PIR42293', 'score': 0.44}, {'connected_gene': 'GC06M000335', 'score': 0.39}, {'connected_gene': 'DUSP22', 'score': 0.28}]
chr6 GH06I000218 218120 219275 0.92 [{'connected_gene': 'IRF4', 'score': 11.15}, {'connected_gene': 'LOC285766', 'score': 0.39}, {'connected_gene': 'PIR44572', 'score': 0.39}, {'connected_gene': 'GC06M000230', 'score': 0.39}]
chr6 GH06I000304 304415 306268 0.83 [{'connected_gene': 'IRF4', 'score': 10.88}, {'connected_gene': 'GC06P000310', 'score': 0.77}, {'connected_gene': 'LOC102723922', 'score': 0.39}, {'connected_gene': 'DUSP22', 'score': 0.39}]
chr6 GH06I000306 306393 307878 0.93 [{'connected_gene': 'IRF4', 'score': 10.84}, {'connected_gene': 'GC06P000310', 'score': 0.77}, {'connected_gene': 'LOC102723922', 'score': 0.39}, {'connected_gene': 'DUSP22', 'score': 0.37}]
chr6 GH06I000389 389741 389890 0.89 [{'connected_gene': 'IRF4', 'score': 550.77}, {'connected_gene': 'ENSG00000205653', 'score': 10.74}, {'connected_gene': 'GC06M000362', 'score': 0.77}]
chr6 GH06I000395 395081 395230 0.72 [{'connected_gene': 'IRF4', 'score': 0.77}, {'connected_gene': 'GC06P000406', 'score': 0.39}]
chr6 GH06I000180 180834 181930 0.62 [{'connected_gene': 'LOC105374869', 'score': 550.77}, {'connected_gene': 'IRF4', 'score': 11.38}, {'connected_gene': 'ENSG00000218577', 'score': 0.39}, {'connected_gene': 'LOC285766', 'score': 0.34}]
chr6 GH06I000387 387336 387726 0.68 [{'connected_gene': 'GC06M000362', 'score': 550.77}, {'connected_gene': 'ENSG00000205653', 'score': 10.75}, {'connected_gene': 'DUSP22', 'score': 1.69}, {'connected_gene': 'IRF4', 'score': 0.77}]
chr6 GH06I000398 398191 400535 1.15 [{'connected_gene': 'ENSG00000205653', 'score': 10.85}, {'connected_gene': 'IRF4', 'score': 6.89}, {'connected_gene': 'DUSP22', 'score': 2.52}, {'connected_gene': 'EXOC2', 'score': 2.22}, {'connected_gene': 'GC06P000406', 'score': 0.44}]
chr6 GH06I000228 227922 228119 0.89 [{'connected_gene': 'PIR44572', 'score': 550.77}, {'connected_gene': 'GC06M000230', 'score': 550.77}, {'connected_gene': 'ENSG00000205653', 'score': 12.11}, {'connected_gene': 'IRF4', 'score': 11.71}, {'connected_gene': 'DUSP22', 'score': 1.52}, {'connected_gene': 'LOC285766', 'score': 0.34}]
chr6 GH06I000234 234806 237031 1.2 [{'connected_gene': 'ENSG00000205653', 'score': 11.18}, {'connected_gene': 'IRF4', 'score': 10.85}, {'connected_gene': 'DUSP22', 'score': 4.43}, {'connected_gene': 'LOC105374870', 'score': 0.77}, {'connected_gene': 'GC06M000261', 'score': 0.28}]
chr6 GH06I000321 321401 321800 0.74 [{'connected_gene': 'PIR42293', 'score': 550.77}, {'connected_gene': 'IRF4', 'score': 11.04}, {'connected_gene': 'GC06M000335', 'score': 0.37}, {'connected_gene': 'DUSP22', 'score': 0.31}]
chr6 GH06I000346 346714 346924 0.51 [{'connected_gene': 'PIR49830', 'score': 550.77}, {'connected_gene': 'PIR35740', 'score': 550.77}, {'connected_gene': 'IRF4', 'score': 10.68}, {'connected_gene': 'GC06M000335', 'score': 0.44}, {'connected_gene': 'DUSP22', 'score': 0.22}]
chr6 GH06I000323 321181 321330 0.8 [{'connected_gene': 'PIR42293', 'score': 550.77}, {'connected_gene': 'IRF4', 'score': 11.04}, {'connected_gene': 'GC06M000335', 'score': 0.37}, {'connected_gene': 'DUSP22', 'score': 0.31}]
chr6 GH06I000319 319799 320052 1.03 [{'connected_gene': 'PIR42293', 'score': 550.77}, {'connected_gene': 'IRF4', 'score': 15.46}, {'connected_gene': 'DUSP22', 'score': 3.41}, {'connected_gene': 'GC06P000310', 'score': 0.44}]
chr6 GH06I000562 562381 562570 0.2 [{'connected_gene': 'GC06M000555', 'score': 550.77}, {'connected_gene': 'ENSG00000205653', 'score': 10.01}, {'connected_gene': 'IRF4', 'score': 9.83}, {'connected_gene': 'ENSG00000230433', 'score': 0.28}, {'connected_gene': 'EXOC2', 'score': 0.12}]
chr6 GH06I000498 498099 500596 0.77 [{'connected_gene': 'ENSG00000230433', 'score': 12.9}, {'connected_gene': 'IRF4', 'score': 11.24}, {'connected_gene': 'ENSG00000205653', 'score': 10.21}, {'connected_gene': 'EXOC2', 'score': 6.36}, {'connected_gene': 'GC06P000481', 'score': 0.37}]
chr6 GH06I000501 501801 502479 0.96 [{'connected_gene': 'ENSG00000230433', 'score': 12.9}, {'connected_gene': 'IRF4', 'score': 11.24}, {'connected_gene': 'ENSG00000205653', 'score': 10.21}, {'connected_gene': 'GC06P000481', 'score': 0.34}, {'connected_gene': 'EXOC2', 'score': 0.08}]
chr6 GH06I000223 223023 223930 0.63 [{'connected_gene': 'ENSG00000205653', 'score': 12.85}, {'connected_gene': 'IRF4', 'score': 11.16}, {'connected_gene': 'PIR44572', 'score': 0.44}, {'connected_gene': 'GC06M000230', 'score': 0.44}, {'connected_gene': 'LOC285766', 'score': 0.37}]
chr6 GH06I000224 224221 224370 0.31 [{'connected_gene': 'ENSG00000205653', 'score': 12.85}, {'connected_gene': 'IRF4', 'score': 11.16}, {'connected_gene': 'PIR44572', 'score': 0.44}, {'connected_gene': 'GC06M000230', 'score': 0.44}, {'connected_gene': 'LOC285766', 'score': 0.37}]
chr6 GH06I000227 227421 227570 0.98 [{'connected_gene': 'ENSG00000205653', 'score': 12.11}, {'connected_gene': 'IRF4', 'score': 11.71}, {'connected_gene': 'PIR44572', 'score': 0.77}, {'connected_gene': 'GC06M000230', 'score': 0.77}, {'connected_gene': 'LOC285766', 'score': 0.34}]
chr6 GH06I000434 434454 435499 1.05 [{'connected_gene': 'ENSG00000230433', 'score': 11.3}, {'connected_gene': 'IRF4', 'score': 11.3}, {'connected_gene': 'HUS1B', 'score': 1.42}, {'connected_gene': 'GC06P000444', 'score': 0.44}, {'connected_gene': 'GC06P000406', 'score': 0.31}]
chr6 GH06I000309 309320 310270 0.76 [{'connected_gene': 'GC06P000310', 'score': 550.77}, {'connected_gene': 'ENSG00000205653', 'score': 10.43}, {'connected_gene': 'IRF4', 'score': 10.18}, {'connected_gene': 'LOC102723922', 'score': 0.37}, {'connected_gene': 'DUSP22', 'score': 0.37}]
chr6 GH06I000356 356658 357982 0.89 [{'connected_gene': 'GC06M000356', 'score': 550.77}, {'connected_gene': 'PIR52831', 'score': 550.77}, {'connected_gene': 'IRF4', 'score': 10.89}, {'connected_gene': 'ENSG00000205653', 'score': 9.91}, {'connected_gene': 'GC06P000367', 'score': 0.39}]
chr6 GH06I000407 403401 403550 0.6 [{'connected_gene': 'ENSG00000205653', 'score': 11.24}, {'connected_gene': 'GC06P000406', 'score': 0.77}, {'connected_gene': 'IRF4', 'score': 0.39}]
chr6 GH06I000404 404450 405377 0.52 [{'connected_gene': 'GC06P000406', 'score': 550.77}, {'connected_gene': 'ENSG00000205653', 'score': 11.24}, {'connected_gene': 'IRF4', 'score': 0.39}]
chr6 GH06I000354 354957 356560 0.52 [{'connected_gene': 'GC06M000356', 'score': 550.77}, {'connected_gene': 'PIR52831', 'score': 550.77}, {'connected_gene': 'IRF4', 'score': 11.03}, {'connected_gene': 'GC06P000367', 'score': 0.39}]
chr6 GH06I000446 446901 447050 0.2 [{'connected_gene': 'PIR55434', 'score': 550.77}, {'connected_gene': 'IRF4', 'score': 10.84}, {'connected_gene': 'GC06P000444', 'score': 0.77}]
chr6 GH06I000406 405421 405570 0.38 [{'connected_gene': 'GC06P000406', 'score': 550.77}, {'connected_gene': 'ENSG00000205653', 'score': 11.64}, {'connected_gene': 'IRF4', 'score': 0.39}]
chr6 GH06I000408 408701 408830 0.72 [{'connected_gene': 'ENSG00000205653', 'score': 11.64}, {'connected_gene': 'GC06P000406', 'score': 0.77}, {'connected_gene': 'IRF4', 'score': 0.37}, {'connected_gene': 'GC06P000444', 'score': 0.28}]
chr6 GH06I000396 396261 396410 0.66 [{'connected_gene': 'ENSG00000205653', 'score': 10.85}, {'connected_gene': 'IRF4', 'score': 7.11}, {'connected_gene': 'GC06P000406', 'score': 0.39}]
chr6 GH06I000405 404021 404310 0.46 [{'connected_gene': 'ENSG00000205653', 'score': 11.24}, {'connected_gene': 'GC06P000406', 'score': 0.77}, {'connected_gene': 'IRF4', 'score': 0.39}]
chr6 GH06I000403 403701 403850 0.54 [{'connected_gene': 'ENSG00000205653', 'score': 11.24}, {'connected_gene': 'GC06P000406', 'score': 0.77}, {'connected_gene': 'IRF4', 'score': 0.39}]
chr6 GH06I000229 229164 229558 1.01 [{'connected_gene': 'PIR44572', 'score': 550.77}, {'connected_gene': 'LOC105374870', 'score': 550.77}, {'connected_gene': 'GC06M000230', 'score': 550.77}, {'connected_gene': 'IRF4', 'score': 13.46}, {'connected_gene': 'ENSG00000205653', 'score': 12.08}, {'connected_gene': 'DUSP22', 'score': 1.94}, {'connected_gene': 'LOC285766', 'score': 0.34}]