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
ENST00000525036 [[48877886, 48878185], [48881415, 48881542], [48916734, 48916850], [48919215, 48919335], [48921960, 48921999], [48923091, 48923159], [48934152, 48934873]] None
ENST00000467505 [[48877910, 48878185], [48934152, 48934263], [48936950, 48937044]] [[48878048, 48878185], [48934152, 48934177]]
ENST00000267163 [[48877910, 48878185], [48881415, 48881542], [48916734, 48916850], [48919215, 48919335], [48921960, 48921999], [48923091, 48923159], [48934152, 48934263], [48936950, 48937093], [48939029, 48939107], [48941629, 48941739], [48942662, 48942740], [48947540, 48947628], [48951053, 48951170], [48953729, 48953786], [48954188, 48954220], [48954300, 48954377], [48955382, 48955579], [49027128, 49027247], [49030339, 49030485], [49033823, 49033969], [49037866, 49037971], [49039133, 49039247], [49039340, 49039504], [49047495, 49047526], [49050836, 49050979], [49051490, 49051540], [49054133, 49056122]] [[48878048, 48878185], [48881415, 48881542], [48916734, 48916850], [48919215, 48919335], [48921960, 48921999], [48923091, 48923159], [48934152, 48934263], [48936950, 48937093], [48939029, 48939107], [48941629, 48941739], [48942662, 48942740], [48947540, 48947628], [48951053, 48951170], [48953729, 48953786], [48954188, 48954220], [48954300, 48954377], [48955382, 48955579], [49027128, 49027247], [49030339, 49030485], [49033823, 49033969], [49037866, 49037971], [49039133, 49039247], [49039340, 49039504], [49047495, 49047526], [49050836, 49050979], [49051490, 49051540], [49054133, 49054207]]
ENST00000480491 [[49018963, 49019357], [49027128, 49027247], [49030339, 49030443]] None
ENST00000531171 [[49050535, 49050658], [49050836, 49050979], [49051490, 49051540], [49054133, 49054475]] None
ENST00000484879 [[49050582, 49050979], [49051490, 49051540], [49054133, 49054783]] None
NM_000321 [[48877882, 48878185], [48881415, 48881542], [48916734, 48916850], [48919215, 48919335], [48921960, 48921999], [48923091, 48923159], [48934152, 48934263], [48936950, 48937093], [48939029, 48939107], [48941629, 48941739], [48942662, 48942740], [48947540, 48947628], [48951053, 48951170], [48953729, 48953786], [48954188, 48954220], [48954300, 48954377], [48955382, 48955579], [49027128, 49027247], [49030339, 49030485], [49033823, 49033969], [49037866, 49037971], [49039133, 49039247], [49039340, 49039504], [49047495, 49047526], [49050836, 49050979], [49051490, 49051540], [49054133, 49056026]] [[48878048, 48878185], [48881415, 48881542], [48916734, 48916850], [48919215, 48919335], [48921960, 48921999], [48923091, 48923159], [48934152, 48934263], [48936950, 48937093], [48939029, 48939107], [48941629, 48941739], [48942662, 48942740], [48947540, 48947628], [48951053, 48951170], [48953729, 48953786], [48954188, 48954220], [48954300, 48954377], [48955382, 48955579], [49027128, 49027247], [49030339, 49030485], [49033823, 49033969], [49037866, 49037971], [49039133, 49039247], [49039340, 49039504], [49047495, 49047526], [49050836, 49050979], [49051490, 49051540], [49054133, 49054207]]
Promoter
Chrom Start End Description
chr13 48877845 48877892 CAGE_peak_2_at_RB1_5end
chr13 48877895 48877929 CAGE_peak_3_at_RB1_5end
chr13 48877940 48877953 CAGE_peak_4_at_RB1_5end
chr13 48877955 48878026 CAGE_peak_1_at_RB1_5end
chr13 48878040 48878051 CAGE_peak_6_at_RB1_5end
chr13 49050561 49050578 CAGE_peak_8_at_RB1_5end
chr13 49050580 49050636 CAGE_peak_5_at_RB1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr13 GH13I048257 48257492 48260139 0.7 [{'connected_gene': 'ITM2B', 'score': 11.96}, {'connected_gene': 'RB1', 'score': 6.39}, {'connected_gene': 'LPAR6', 'score': 6.23}, {'connected_gene': 'LINC00441', 'score': 0.26}]
chr13 GH13I048230 48230620 48238366 2.19 [{'connected_gene': 'ITM2B', 'score': 550.77}, {'connected_gene': 'MED4', 'score': 11.18}, {'connected_gene': 'LPAR6', 'score': 6.39}, {'connected_gene': 'RB1', 'score': 5.5}, {'connected_gene': 'LINC00441', 'score': 0.2}]
chr13 GH13I048255 48255416 48257386 0.67 [{'connected_gene': 'ITM2B', 'score': 11.97}, {'connected_gene': 'MED4', 'score': 11.41}, {'connected_gene': 'LPAR6', 'score': 6.17}, {'connected_gene': 'RB1', 'score': 5.62}, {'connected_gene': 'LINC00441', 'score': 0.25}]
chr13 GH13I048154 48154550 48163200 1.53 [{'connected_gene': 'ITM2B', 'score': 39.7}, {'connected_gene': 'RCBTB2', 'score': 7.03}, {'connected_gene': 'RB1', 'score': 2.83}, {'connected_gene': 'LPAR6', 'score': 2.66}, {'connected_gene': 'MED4', 'score': 1.77}, {'connected_gene': 'LOC105370198', 'score': 0.44}, {'connected_gene': 'POLR2KP2', 'score': 0.34}]
chr13 GH13I048143 48143880 48145409 1.2 [{'connected_gene': 'ITM2B', 'score': 25.29}, {'connected_gene': 'MED4-AS1', 'score': 10.37}, {'connected_gene': 'SUCLA2', 'score': 9.85}, {'connected_gene': 'RCBTB2', 'score': 4.28}, {'connected_gene': 'RB1', 'score': 1.73}, {'connected_gene': 'MED4', 'score': 1.35}, {'connected_gene': 'POLR2KP2', 'score': 0.39}, {'connected_gene': 'LOC105370198', 'score': 0.34}]
chr13 GH13I047903 47903801 47904670 1.12 [{'connected_gene': 'SUCLA2', 'score': 9.33}, {'connected_gene': 'RB1', 'score': 1.93}, {'connected_gene': 'LINC00444', 'score': 0.77}, {'connected_gene': 'ENSG00000228573', 'score': 0.2}]
chr13 GH13I048299 48299417 48300298 0.31 [{'connected_gene': 'RB1', 'score': 6.41}, {'connected_gene': 'RCBTB2', 'score': 5.81}, {'connected_gene': 'LINC00441', 'score': 0.77}, {'connected_gene': 'ITM2B', 'score': 0.2}]
chr13 GH13I048526 48526231 48526873 0.2 [{'connected_gene': 'RB1', 'score': 6.21}, {'connected_gene': 'RCBTB2', 'score': 0.44}, {'connected_gene': 'ENSG00000274929', 'score': 0.44}, {'connected_gene': 'GC13P048483', 'score': 0.26}]
chr13 GH13I048497 48497422 48498355 0.2 [{'connected_gene': 'RB1', 'score': 6.21}, {'connected_gene': 'GC13P048483', 'score': 0.39}, {'connected_gene': 'ENSG00000274929', 'score': 0.29}, {'connected_gene': 'RCBTB2', 'score': 0.28}]
chr13 GH13I048593 48593565 48594754 0.51 [{'connected_gene': 'RB1', 'score': 5.0}, {'connected_gene': 'LOC105370202', 'score': 0.39}, {'connected_gene': 'CYSLTR2', 'score': 0.22}]
chr13 GH13I048584 48584500 48586114 0.94 [{'connected_gene': 'RB1', 'score': 5.08}, {'connected_gene': 'LOC105370202', 'score': 0.77}, {'connected_gene': 'GC13P048533', 'score': 0.23}, {'connected_gene': 'CYSLTR2', 'score': 0.2}]
chr13 GH13I048595 48595261 48596338 1.03 [{'connected_gene': 'RB1', 'score': 5.38}, {'connected_gene': 'LOC105370202', 'score': 0.39}, {'connected_gene': 'CYSLTR2', 'score': 0.22}]
chr13 GH13I048397 48397838 48404802 1.09 [{'connected_gene': 'RB1', 'score': 6.23}, {'connected_gene': 'LPAR6', 'score': 5.6}, {'connected_gene': 'MED4-AS1', 'score': 5.03}, {'connected_gene': 'RCBTB2', 'score': 4.12}, {'connected_gene': 'ENSG00000277233', 'score': 0.31}, {'connected_gene': 'GC13M048388', 'score': 0.31}, {'connected_gene': 'GC13M048356', 'score': 0.28}]
chr13 GH13I048476 48476736 48478222 0.76 [{'connected_gene': 'RB1', 'score': 5.0}, {'connected_gene': 'PIR51921', 'score': 0.77}, {'connected_gene': 'LPAR6', 'score': 0.29}]
chr13 GH13I048264 48264431 48266524 0.63 [{'connected_gene': 'RB1', 'score': 18.67}, {'connected_gene': 'LINC00441', 'score': 13.85}, {'connected_gene': 'ITM2B', 'score': 11.54}, {'connected_gene': 'MED4', 'score': 11.42}, {'connected_gene': 'LINC00462', 'score': 5.06}]
chr13 GH13I048294 48294160 48295015 0.2 [{'connected_gene': 'RB1', 'score': 6.56}, {'connected_gene': 'LINC00441', 'score': 0.44}, {'connected_gene': 'ITM2B', 'score': 0.21}]
chr13 GH13I048302 48302221 48306226 2.24 [{'connected_gene': 'RB1', 'score': 556.24}, {'connected_gene': 'LINC00441', 'score': 550.77}, {'connected_gene': 'PPP1R26P1', 'score': 17.57}, {'connected_gene': 'RCBTB2', 'score': 4.16}, {'connected_gene': 'GC13M048317', 'score': 0.37}]
chr13 GH13I048542 48542065 48543554 1 [{'connected_gene': 'RB1', 'score': 6.19}, {'connected_gene': 'LINC00462', 'score': 5.52}, {'connected_gene': 'GC13P048533', 'score': 0.44}, {'connected_gene': 'LOC105370201', 'score': 0.31}]
chr13 GH13I048600 48600134 48601879 1.19 [{'connected_gene': 'CYSLTR2', 'score': 12.08}, {'connected_gene': 'FNDC3A', 'score': 9.72}, {'connected_gene': 'RB1', 'score': 4.75}, {'connected_gene': 'LOC105370202', 'score': 0.37}]
chr13 GH13I048614 48614264 48616274 0.31 [{'connected_gene': 'CYSLTR2', 'score': 11.97}, {'connected_gene': 'LINC00462', 'score': 4.76}, {'connected_gene': 'LINC00441', 'score': 4.61}, {'connected_gene': 'RB1', 'score': 4.48}, {'connected_gene': 'LPAR6', 'score': 4.34}, {'connected_gene': 'LOC105370202', 'score': 0.29}]
chr13 GH13I048309 48309180 48311769 0.38 [{'connected_gene': 'NUDT15', 'score': 11.84}, {'connected_gene': 'RB1', 'score': 5.72}, {'connected_gene': 'RCBTB2', 'score': 5.57}, {'connected_gene': 'GC13M048317', 'score': 0.39}]
chr13 GH13I048250 48250713 48252755 0.6 [{'connected_gene': 'MED4', 'score': 10.75}, {'connected_gene': 'RB1', 'score': 5.61}, {'connected_gene': 'SUCLA2-AS1', 'score': 4.61}, {'connected_gene': 'ITM2B', 'score': 0.37}, {'connected_gene': 'LINC00441', 'score': 0.23}]
chr13 GH13I048243 48243818 48245090 0.2 [{'connected_gene': 'MED4', 'score': 10.9}, {'connected_gene': 'RB1', 'score': 6.35}, {'connected_gene': 'LINC00441', 'score': 5.07}, {'connected_gene': 'ITM2B', 'score': 0.39}]
chr13 GH13I048488 48488385 48495211 1.57 [{'connected_gene': 'MED4', 'score': 11.98}, {'connected_gene': 'LPAR6', 'score': 5.59}, {'connected_gene': 'RB1', 'score': 4.99}, {'connected_gene': 'GC13P048483', 'score': 0.44}, {'connected_gene': 'RCBTB2', 'score': 0.26}, {'connected_gene': 'ENSG00000274929', 'score': 0.26}]
chr13 GH13I048241 48241314 48243321 0.59 [{'connected_gene': 'MED4', 'score': 10.9}, {'connected_gene': 'LINC00462', 'score': 9.8}, {'connected_gene': 'RB1', 'score': 5.03}, {'connected_gene': 'LPAR6', 'score': 4.46}, {'connected_gene': 'ITM2B', 'score': 0.44}, {'connected_gene': 'LINC00441', 'score': 0.21}]
chr13 GH13I048791 48791290 48792706 1.17 [{'connected_gene': 'FNDC3A', 'score': 7.19}, {'connected_gene': 'COX7CP1', 'score': 4.8}, {'connected_gene': 'RB1', 'score': 2.26}, {'connected_gene': 'RCBTB2', 'score': 1.85}, {'connected_gene': 'GC13P048772', 'score': 0.34}, {'connected_gene': 'GC13P048866', 'score': 0.19}]
chr13 GH13I048556 48556699 48557115 0.53 [{'connected_gene': 'FNDC3A', 'score': 9.06}, {'connected_gene': 'RB1', 'score': 7.45}, {'connected_gene': 'RCBTB2', 'score': 5.8}, {'connected_gene': 'LPAR6', 'score': 3.96}, {'connected_gene': 'LOC105370201', 'score': 0.39}, {'connected_gene': 'GC13P048533', 'score': 0.34}]
chr13 GH13I048729 48729849 48732444 1.06 [{'connected_gene': 'FNDC3A', 'score': 14.65}, {'connected_gene': 'CYSLTR2', 'score': 11.85}, {'connected_gene': 'RCBTB2', 'score': 2.25}, {'connected_gene': 'RB1', 'score': 2.2}, {'connected_gene': 'LPAR6', 'score': 1.38}, {'connected_gene': 'ITM2B', 'score': 1.12}, {'connected_gene': 'GC13P048764', 'score': 0.29}]
chr13 GH13I048498 48498743 48501822 1.24 [{'connected_gene': 'RCBTB2', 'score': 11.87}, {'connected_gene': 'RB1', 'score': 9.7}, {'connected_gene': 'FNDC3A', 'score': 7.0}, {'connected_gene': 'LPAR6', 'score': 6.65}, {'connected_gene': 'PCNPP5', 'score': 5.08}, {'connected_gene': 'GC13P048483', 'score': 0.37}, {'connected_gene': 'ENSG00000274929', 'score': 0.29}]
chr13 GH13I048586 48586401 48587544 1.02 [{'connected_gene': 'RCBTB2', 'score': 6.37}, {'connected_gene': 'RB1', 'score': 5.01}, {'connected_gene': 'LOC105370202', 'score': 0.44}, {'connected_gene': 'GC13P048533', 'score': 0.23}, {'connected_gene': 'CYSLTR2', 'score': 0.2}]
chr13 GH13I048589 48589867 48593118 0.89 [{'connected_gene': 'RCBTB2', 'score': 5.46}, {'connected_gene': 'RB1', 'score': 5.27}, {'connected_gene': 'LOC105370202', 'score': 0.39}, {'connected_gene': 'CYSLTR2', 'score': 0.21}]
chr13 GH13I048549 48549601 48550000 0.78 [{'connected_gene': 'RCBTB2', 'score': 8.44}, {'connected_gene': 'RB1', 'score': 5.28}, {'connected_gene': 'LPAR6', 'score': 5.06}, {'connected_gene': 'FNDC3A', 'score': 2.25}, {'connected_gene': 'GC13P048533', 'score': 0.37}, {'connected_gene': 'LOC105370201', 'score': 0.34}]
chr13 GH13I048561 48561083 48563429 1.43 [{'connected_gene': 'RCBTB2', 'score': 7.26}, {'connected_gene': 'LPAR6', 'score': 6.19}, {'connected_gene': 'RB1', 'score': 5.94}, {'connected_gene': 'FNDC3A', 'score': 4.21}, {'connected_gene': 'ITM2B', 'score': 2.27}, {'connected_gene': 'CYSLTR2', 'score': 2.23}, {'connected_gene': 'LOC105370201', 'score': 0.44}, {'connected_gene': 'GC13P048533', 'score': 0.31}]
chr13 GH13I048335 48334645 48334794 0.52 [{'connected_gene': 'RCBTB2', 'score': 4.17}, {'connected_gene': 'ENSG00000277684', 'score': 0.44}, {'connected_gene': 'PCNPP5', 'score': 0.44}, {'connected_gene': 'RB1', 'score': 0.29}]
chr13 GH13I048530 48530816 48534527 2.43 [{'connected_gene': 'RCBTB2', 'score': 557.68}, {'connected_gene': 'ENSG00000274929', 'score': 550.77}, {'connected_gene': 'GC13P048532', 'score': 550.77}, {'connected_gene': 'GC13P048533', 'score': 550.77}, {'connected_gene': 'PPP1R26P1', 'score': 17.28}, {'connected_gene': 'LINC00462', 'score': 10.01}, {'connected_gene': 'SETDB2', 'score': 9.72}, {'connected_gene': 'RB1', 'score': 6.3}, {'connected_gene': 'LPAR6', 'score': 5.68}]
chr13 GH13I048567 48567002 48574999 1.39 [{'connected_gene': 'LOC105370201', 'score': 550.77}, {'connected_gene': 'RB1', 'score': 12.28}, {'connected_gene': 'RCBTB2', 'score': 9.46}, {'connected_gene': 'FNDC3A', 'score': 5.69}, {'connected_gene': 'LPAR6', 'score': 5.41}, {'connected_gene': 'LINC00441', 'score': 4.91}, {'connected_gene': 'CYSLTR2', 'score': 1.29}, {'connected_gene': 'LINC01077', 'score': 0.77}, {'connected_gene': 'GC13P048533', 'score': 0.28}]
chr13 GH13I048409 48409068 48413968 2.06 [{'connected_gene': 'LPAR6', 'score': 550.29}, {'connected_gene': 'RB1', 'score': 5.06}, {'connected_gene': 'ENSG00000277233', 'score': 0.37}, {'connected_gene': 'GC13M048388', 'score': 0.37}, {'connected_gene': 'GC13M048356', 'score': 0.25}]
chr13 GH13I048448 48448223 48450089 0.69 [{'connected_gene': 'LPAR6', 'score': 0.77}, {'connected_gene': 'PIR51921', 'score': 0.29}, {'connected_gene': 'RB1', 'score': 0.11}]
chr13 GH13I048426 48426898 48426957 0.5 [{'connected_gene': 'LPAR6', 'score': 550.37}, {'connected_gene': 'ENSG00000277233', 'score': 0.77}, {'connected_gene': 'GC13M048388', 'score': 0.77}, {'connected_gene': 'GC13M048356', 'score': 0.21}, {'connected_gene': 'RB1', 'score': 0.13}]
chr13 GH13I048446 48446065 48447315 0.63 [{'connected_gene': 'LPAR6', 'score': 556.11}, {'connected_gene': 'PIR51921', 'score': 0.28}, {'connected_gene': 'RB1', 'score': 0.11}]
chr13 GH13I048444 48444650 48444709 0.61 [{'connected_gene': 'LPAR6', 'score': 550.77}, {'connected_gene': 'GC13M048388', 'score': 0.39}, {'connected_gene': 'RB1', 'score': 0.11}]
chr13 GH13I048436 48436202 48437830 0.31 [{'connected_gene': 'LPAR6', 'score': 6.11}, {'connected_gene': 'MED4-AS1', 'score': 5.03}, {'connected_gene': 'RB1', 'score': 5.02}, {'connected_gene': 'GC13M048388', 'score': 0.44}]
chr13 GH13I048319 48319801 48320200 0.31 [{'connected_gene': 'PPP1R26P1', 'score': 550.77}, {'connected_gene': 'GC13M048317', 'score': 550.77}, {'connected_gene': 'RB1', 'score': 0.37}]
chr13 GH13I048318 48318001 48319400 0.38 [{'connected_gene': 'PPP1R26P1', 'score': 550.77}, {'connected_gene': 'GC13M048317', 'score': 550.77}, {'connected_gene': 'MED4-AS1', 'score': 4.49}, {'connected_gene': 'RB1', 'score': 0.39}]
chr13 GH13I048321 48321002 48321399 0.2 [{'connected_gene': 'PPP1R26P1', 'score': 550.77}, {'connected_gene': 'GC13M048317', 'score': 550.77}, {'connected_gene': 'PCNPP5', 'score': 0.44}, {'connected_gene': 'RB1', 'score': 0.37}]
chr13 GH13I048577 48577202 48580118 1.54 [{'connected_gene': 'LINC00462', 'score': 10.34}, {'connected_gene': 'RB1', 'score': 9.68}, {'connected_gene': 'RCBTB2', 'score': 8.65}, {'connected_gene': 'LPAR6', 'score': 6.86}, {'connected_gene': 'FNDC3A', 'score': 6.42}, {'connected_gene': 'ITM2B', 'score': 1.15}, {'connected_gene': 'LINC01077', 'score': 0.44}, {'connected_gene': 'GC13P048533', 'score': 0.26}]
chr13 GH13I048580 48580305 48580654 1.04 [{'connected_gene': 'LINC00462', 'score': 550.77}, {'connected_gene': 'LOC105370202', 'score': 550.77}, {'connected_gene': 'RB1', 'score': 3.37}, {'connected_gene': 'RCBTB2', 'score': 3.07}, {'connected_gene': 'LPAR6', 'score': 2.71}, {'connected_gene': 'FNDC3A', 'score': 2.21}, {'connected_gene': 'LINC01077', 'score': 0.44}, {'connected_gene': 'GC13P048533', 'score': 0.25}]
chr13 GH13I048407 48406025 48406174 0.43 [{'connected_gene': 'ENSG00000277233', 'score': 0.34}, {'connected_gene': 'GC13M048388', 'score': 0.34}, {'connected_gene': 'LPAR6', 'score': 0.28}, {'connected_gene': 'GC13M048356', 'score': 0.26}, {'connected_gene': 'RB1', 'score': 0.15}]
chr13 GH13I048478 48478545 48478694 0.58 [{'connected_gene': 'PIR51921', 'score': 0.77}, {'connected_gene': 'LPAR6', 'score': 0.29}, {'connected_gene': 'RB1', 'score': 0.09}]
chr13 GH13I048406 48406601 48406800 0.2 [{'connected_gene': 'ENSG00000277233', 'score': 0.34}, {'connected_gene': 'GC13M048388', 'score': 0.34}, {'connected_gene': 'LPAR6', 'score': 0.28}, {'connected_gene': 'GC13M048356', 'score': 0.26}, {'connected_gene': 'RB1', 'score': 0.15}]
chr13 GH13I048431 48431329 48432742 0.86 [{'connected_gene': 'GC13M048388', 'score': 550.77}, {'connected_gene': 'MED4-AS1', 'score': 4.52}, {'connected_gene': 'LPAR6', 'score': 0.39}, {'connected_gene': 'RB1', 'score': 0.13}]
chr13 GH13I048334 48334065 48334214 0.31 [{'connected_gene': 'ENSG00000277684', 'score': 0.44}, {'connected_gene': 'PCNPP5', 'score': 0.44}, {'connected_gene': 'RB1', 'score': 0.29}]
chr13 GH13I048333 48333723 48333819 0.24 [{'connected_gene': 'ENSG00000277684', 'score': 0.44}, {'connected_gene': 'PCNPP5', 'score': 0.44}, {'connected_gene': 'RB1', 'score': 0.29}]

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