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
ENST00000289081 [[97861335, 97864132], [97869347, 97869551], [97873744, 97873919], [97876910, 97876992], [97879596, 97879672], [97887367, 97887467], [97888810, 97888863], [97897627, 97897784], [97912204, 97912369], [97933360, 97933425], [97934318, 97934429], [98002930, 98003025], [98009713, 98009798], [98011408, 98011651], [98079807, 98079984]] [[97863988, 97864132], [97869347, 97869551], [97873744, 97873919], [97876910, 97876992], [97879596, 97879672], [97887367, 97887467], [97888810, 97888863], [97897627, 97897784], [97912204, 97912369], [97933360, 97933425], [97934318, 97934429], [98002930, 98003025], [98009713, 98009798], [98011408, 98011573]]
ENST00000375305 [[97861336, 97864132], [97869347, 97869551], [97873744, 97873919], [97876910, 97876992], [97879596, 97879672], [97887367, 97887467], [97888810, 97888863], [97897627, 97897784], [97912204, 97912369], [97933360, 97933425], [97934318, 97934429], [98002930, 98003025], [98009713, 98009798], [98011408, 98011651], [98079410, 98079507]] [[97863988, 97864132], [97869347, 97869551], [97873744, 97873919], [97876910, 97876992], [97879596, 97879672], [97887367, 97887467], [97888810, 97888863], [97897627, 97897784], [97912204, 97912369], [97933360, 97933425], [97934318, 97934429], [98002930, 98003025], [98009713, 98009798], [98011408, 98011573]]
ENST00000493098 [[97907551, 97907800], [97912204, 97912315]] None
ENST00000474949 [[97933397, 97933425], [97934318, 97934429], [97948782, 97948877], [98002930, 98003025], [98009713, 98009798], [98011408, 98011651], [98079807, 98079991]] None
ENST00000433829 [[97934324, 97934429], [98002930, 98003025], [98009713, 98009798], [98011408, 98011651], [98079113, 98079176]] [[97934324, 97934429], [98002930, 98003025], [98009713, 98009798], [98011408, 98011573]]
ENST00000464627 [[97869382, 97869551], [97873744, 97873919], [97876910, 97876992], [97879596, 97879672], [97887367, 97887467], [97888810, 97888863], [97889030, 97889200]] None
ENST00000480712 [[97869629, 97869795], [97873744, 97873919], [97876910, 97876992], [97879596, 97879672], [97887367, 97887467], [97888810, 97888863], [97897627, 97897655]] None
ENST00000477942 [[97871878, 97872036], [97873744, 97873919], [97876910, 97876992], [97879596, 97879672], [97887367, 97887467], [97888810, 97888863], [97897627, 97897825]] None
ENST00000490972 [[97873229, 97873524], [97873885, 97873919], [97876910, 97876992], [97879596, 97879672], [97887367, 97887467], [97888810, 97888856]] None
ENST00000464653 [[97876416, 97876992], [97879596, 97879672], [97887367, 97887467], [97888810, 97889702]] None
NM_001243743 [[97861335, 97864132], [97869347, 97869551], [97873744, 97873919], [97876910, 97876992], [97879596, 97879672], [97887367, 97887467], [97888810, 97888863], [97897627, 97897784], [97912204, 97912369], [97933360, 97933425], [97934318, 97934429], [98002930, 98003025], [98009713, 98009798], [98011408, 98011651], [98079410, 98079536]] [[97863988, 97864132], [97869347, 97869551], [97873744, 97873919], [97876910, 97876992], [97879596, 97879672], [97887367, 97887467], [97888810, 97888863], [97897627, 97897784], [97912204, 97912369], [97933360, 97933425], [97934318, 97934429], [98002930, 98003025], [98009713, 98009798], [98011408, 98011573]]
NM_000136 [[97861335, 97864132], [97869347, 97869551], [97873744, 97873919], [97876910, 97876992], [97879596, 97879672], [97887367, 97887467], [97888810, 97888863], [97897627, 97897784], [97912204, 97912369], [97933360, 97933425], [97934318, 97934429], [98002930, 98003025], [98009713, 98009798], [98011408, 98011651], [98079807, 98079991]] [[97863988, 97864132], [97869347, 97869551], [97873744, 97873919], [97876910, 97876992], [97879596, 97879672], [97887367, 97887467], [97888810, 97888863], [97897627, 97897784], [97912204, 97912369], [97933360, 97933425], [97934318, 97934429], [98002930, 98003025], [98009713, 98009798], [98011408, 98011573]]
NM_001243744 [[97872507, 97873627], [97873744, 97873919], [97876910, 97876992], [97879596, 97879672], [97887367, 97887467], [97888810, 97888863], [97897627, 97897784], [97912204, 97912369], [97933360, 97933425], [97934318, 97934429], [98002930, 98003025], [98009713, 98009798], [98011408, 98011651], [98079807, 98079991]] [[97873477, 97873627], [97873744, 97873919], [97876910, 97876992], [97879596, 97879672], [97887367, 97887467], [97888810, 97888863], [97897627, 97897784], [97912204, 97912369], [97933360, 97933425], [97934318, 97934429], [98002930, 98003025], [98009713, 98009798], [98011408, 98011573]]
Promoter
Chrom Start End Description
chr9 97889211 97889244 CAGE_peak_6_at_FANCC_5end
chr9 98079154 98079192 CAGE_peak_2_at_FANCC_5end
chr9 98079846 98079865 CAGE_peak_3_at_FANCC_5end
chr9 98079965 98080008 CAGE_peak_1_at_FANCC_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr9 GH09I095224 95224194 95225694 0.6 [{'connected_gene': 'C9orf3', 'score': 4.47}, {'connected_gene': 'LOC643342', 'score': 0.2}, {'connected_gene': 'RNA5SP288', 'score': 0.18}, {'connected_gene': 'FANCC', 'score': 0.08}]
chr9 GH09I095187 95187968 95190732 0.83 [{'connected_gene': 'C9orf3', 'score': 4.5}, {'connected_gene': 'RNA5SP288', 'score': 0.25}, {'connected_gene': 'LOC643342', 'score': 0.15}, {'connected_gene': 'FANCC', 'score': 0.07}]
chr9 GH09I095283 95283351 95285228 0.56 [{'connected_gene': 'LOC643342', 'score': 0.44}, {'connected_gene': 'FANCC', 'score': 0.11}, {'connected_gene': 'RNA5SP288', 'score': 0.11}]
chr9 GH09I095307 95307143 95308481 0.71 [{'connected_gene': 'LOC643342', 'score': 0.37}, {'connected_gene': 'LOC105376155', 'score': 0.22}, {'connected_gene': 'FANCC', 'score': 0.13}]
chr9 GH09I095292 95292365 95292785 0.28 [{'connected_gene': 'LOC643342', 'score': 550.77}, {'connected_gene': 'LOC105376155', 'score': 0.19}, {'connected_gene': 'FANCC', 'score': 0.12}]
chr9 GH09I095305 95305883 95306809 0.72 [{'connected_gene': 'LOC643342', 'score': 0.39}, {'connected_gene': 'LOC105376155', 'score': 0.21}, {'connected_gene': 'FANCC', 'score': 0.13}]
chr9 GH09I095312 95312801 95313799 1.01 [{'connected_gene': 'LOC643342', 'score': 0.34}, {'connected_gene': 'LOC105376155', 'score': 0.23}, {'connected_gene': 'FANCC', 'score': 0.14}]
chr9 GH09I095269 95269133 95270625 0.68 [{'connected_gene': 'LOC643342', 'score': 0.34}, {'connected_gene': 'RNA5SP288', 'score': 0.13}, {'connected_gene': 'FANCC', 'score': 0.1}]
chr9 GH09I095268 95268799 95268948 0.66 [{'connected_gene': 'LOC643342', 'score': 0.34}, {'connected_gene': 'RNA5SP288', 'score': 0.13}, {'connected_gene': 'FANCC', 'score': 0.1}]
chr9 GH09I095261 95261807 95262554 0.52 [{'connected_gene': 'LOC643342', 'score': 0.29}, {'connected_gene': 'RNA5SP288', 'score': 0.13}, {'connected_gene': 'FANCC', 'score': 0.1}]
chr9 GH09I095273 95273601 95273800 0.31 [{'connected_gene': 'LOC643342', 'score': 0.37}, {'connected_gene': 'RNA5SP288', 'score': 0.12}, {'connected_gene': 'FANCC', 'score': 0.1}]
chr9 GH09I095218 95218777 95219298 0.2 [{'connected_gene': 'LOC643342', 'score': 0.19}, {'connected_gene': 'RNA5SP288', 'score': 0.18}, {'connected_gene': 'FANCC', 'score': 0.08}]
chr9 GH09I095503 95503634 95517911 3.05 [{'connected_gene': 'PTCH1', 'score': 558.8}, {'connected_gene': 'ERCC6L2', 'score': 117.04}, {'connected_gene': 'ENSG00000271155', 'score': 65.16}, {'connected_gene': 'LINC00476', 'score': 31.15}, {'connected_gene': 'EIF4BP3', 'score': 29.12}, {'connected_gene': 'ENSG00000271659', 'score': 28.47}, {'connected_gene': 'RPS26P37', 'score': 24.33}, {'connected_gene': 'LOC158435', 'score': 19.24}, {'connected_gene': 'LOC100421693', 'score': 10.7}, {'connected_gene': 'ENSG00000236095', 'score': 9.92}, {'connected_gene': 'FANCC', 'score': 3.41}]
chr9 GH09I095409 95409579 95410506 1.04 [{'connected_gene': 'MT1P1', 'score': 0.77}, {'connected_gene': 'ENSG00000271384', 'score': 0.77}, {'connected_gene': 'LOC105376156', 'score': 0.37}, {'connected_gene': 'FANCC', 'score': 0.37}]
chr9 GH09I095414 95414942 95415761 0.38 [{'connected_gene': 'MT1P1', 'score': 550.77}, {'connected_gene': 'LOC105376156', 'score': 0.39}, {'connected_gene': 'FANCC', 'score': 0.39}]
chr9 GH09I094911 94911014 94930589 1.71 [{'connected_gene': 'ERCC6L2', 'score': 14.73}, {'connected_gene': 'MIR2278', 'score': 11.15}, {'connected_gene': 'ENSG00000271155', 'score': 10.87}, {'connected_gene': 'LOC100132077', 'score': 10.5}, {'connected_gene': 'FBP1', 'score': 6.23}, {'connected_gene': 'ZNF169', 'score': 5.87}, {'connected_gene': 'FANCC', 'score': 5.2}, {'connected_gene': 'C9orf3', 'score': 5.14}, {'connected_gene': 'LOC101928119', 'score': 0.37}, {'connected_gene': 'ENSG00000236095', 'score': 0.34}]
chr9 GH09I095778 95778901 95779791 0.77 [{'connected_gene': 'ERCC6L2', 'score': 45.6}, {'connected_gene': 'ENSG00000271155', 'score': 41.02}, {'connected_gene': 'LINC00476', 'score': 24.45}, {'connected_gene': 'ZNF510', 'score': 21.76}, {'connected_gene': 'ENSG00000271659', 'score': 20.17}, {'connected_gene': 'LOC441455', 'score': 12.41}, {'connected_gene': 'LOC158435', 'score': 11.65}, {'connected_gene': 'FANCC', 'score': 11.22}, {'connected_gene': 'PTCH1', 'score': 9.82}, {'connected_gene': 'LOC105376161', 'score': 9.09}, {'connected_gene': 'GC09P095813', 'score': 0.29}]
chr9 GH09I094672 94672531 94676636 0.76 [{'connected_gene': 'FBP1', 'score': 11.02}, {'connected_gene': 'FBP2', 'score': 10.56}, {'connected_gene': 'FANCC', 'score': 5.64}, {'connected_gene': 'PIR42796', 'score': 0.29}]
chr9 GH09I095105 95105138 95106245 0.63 [{'connected_gene': 'FBP1', 'score': 10.31}, {'connected_gene': 'PIR51992', 'score': 0.77}, {'connected_gene': 'PIR48893', 'score': 0.77}, {'connected_gene': 'FANCC', 'score': 0.05}, {'connected_gene': 'C9orf3', 'score': 0.05}]
chr9 GH09I095104 95104377 95104816 0.58 [{'connected_gene': 'FBP1', 'score': 10.31}, {'connected_gene': 'PIR51992', 'score': 0.77}, {'connected_gene': 'PIR48893', 'score': 0.77}, {'connected_gene': 'FANCC', 'score': 0.05}, {'connected_gene': 'C9orf3', 'score': 0.05}]
chr9 GH09I095119 95119014 95119147 0.34 [{'connected_gene': 'FBP1', 'score': 11.34}, {'connected_gene': 'RPS26P37', 'score': 0.77}, {'connected_gene': 'ENSG00000229065', 'score': 0.44}, {'connected_gene': 'FANCC', 'score': 0.06}, {'connected_gene': 'C9orf3', 'score': 0.05}]
chr9 GH09I095002 95002270 95011069 1.88 [{'connected_gene': 'FANCC', 'score': 4.34}, {'connected_gene': 'C9orf3', 'score': 4.13}, {'connected_gene': 'MIR6081', 'score': 0.22}, {'connected_gene': 'LOC101928119', 'score': 0.2}]
chr9 GH09I095197 95197198 95198721 0.7 [{'connected_gene': 'FANCC', 'score': 6.55}, {'connected_gene': 'C9orf3', 'score': 4.49}, {'connected_gene': 'RNA5SP288', 'score': 0.22}, {'connected_gene': 'LOC643342', 'score': 0.16}]
chr9 GH09I094739 94739635 94741266 0.38 [{'connected_gene': 'FANCC', 'score': 5.64}, {'connected_gene': 'C9orf3', 'score': 0.39}, {'connected_gene': 'MIR2278', 'score': 0.2}]
chr9 GH09I095076 95076813 95079856 1.2 [{'connected_gene': 'FANCC', 'score': 7.34}, {'connected_gene': 'PTCH1', 'score': 1.34}, {'connected_gene': 'GC09P095098', 'score': 0.44}, {'connected_gene': 'MIR6081', 'score': 0.39}, {'connected_gene': 'C9orf3', 'score': 0.05}]
chr9 GH09I095502 95500389 95500900 0.2 [{'connected_gene': 'FANCC', 'score': 10.46}, {'connected_gene': 'ENSG00000271155', 'score': 5.77}, {'connected_gene': 'ENSG00000271314', 'score': 0.44}, {'connected_gene': 'PTCH1', 'score': 0.37}]
chr9 GH09I095315 95315025 95318495 2.06 [{'connected_gene': 'FANCC', 'score': 554.4}, {'connected_gene': 'LOC100132077', 'score': 10.22}, {'connected_gene': 'ERCC6L2', 'score': 9.93}, {'connected_gene': 'LOC643342', 'score': 0.34}, {'connected_gene': 'LOC105376155', 'score': 0.23}]
chr9 GH09I095425 95425598 95427733 1.55 [{'connected_gene': 'LOC105376156', 'score': 550.77}, {'connected_gene': 'FANCC', 'score': 550.77}, {'connected_gene': 'MT1P1', 'score': 0.39}]
chr9 GH09I095349 95349001 95350231 0.31 [{'connected_gene': 'LOC105376155', 'score': 0.37}, {'connected_gene': 'LOC643342', 'score': 0.22}, {'connected_gene': 'FANCC', 'score': 0.18}]
chr9 GH09I095366 95366672 95367350 0.2 [{'connected_gene': 'LOC105376155', 'score': 550.77}, {'connected_gene': 'FANCC', 'score': 10.42}, {'connected_gene': 'LOC643342', 'score': 0.19}]
chr9 GH09I095381 95381399 95381548 0.7 [{'connected_gene': 'LOC105376155', 'score': 0.39}, {'connected_gene': 'ENSG00000271384', 'score': 0.31}, {'connected_gene': 'FANCC', 'score': 0.25}]
chr9 GH09I095382 95382360 95385260 0.78 [{'connected_gene': 'LOC105376155', 'score': 0.37}, {'connected_gene': 'ENSG00000271384', 'score': 0.34}, {'connected_gene': 'FANCC', 'score': 0.26}]
chr9 GH09I095143 95143146 95144987 0.95 [{'connected_gene': 'RNA5SP288', 'score': 550.77}, {'connected_gene': 'LOC643342', 'score': 0.11}, {'connected_gene': 'FANCC', 'score': 0.06}, {'connected_gene': 'C9orf3', 'score': 0.05}]
chr9 GH09I095167 95167579 95168401 0.77 [{'connected_gene': 'RNA5SP288', 'score': 0.31}, {'connected_gene': 'LOC643342', 'score': 0.13}, {'connected_gene': 'FANCC', 'score': 0.07}]
chr9 GH09I095206 95206145 95206600 0.49 [{'connected_gene': 'RNA5SP288', 'score': 0.21}, {'connected_gene': 'LOC643342', 'score': 0.17}, {'connected_gene': 'FANCC', 'score': 0.07}]
chr9 GH09I095170 95170585 95171889 1.07 [{'connected_gene': 'RNA5SP288', 'score': 0.31}, {'connected_gene': 'LOC643342', 'score': 0.13}, {'connected_gene': 'FANCC', 'score': 0.07}]
chr9 GH09I095193 95193179 95193328 0.31 [{'connected_gene': 'RNA5SP288', 'score': 0.23}, {'connected_gene': 'LOC643342', 'score': 0.15}, {'connected_gene': 'FANCC', 'score': 0.07}]
chr9 GH09I095183 95183279 95183428 0.56 [{'connected_gene': 'RNA5SP288', 'score': 0.26}, {'connected_gene': 'LOC643342', 'score': 0.14}, {'connected_gene': 'FANCC', 'score': 0.07}]
chr9 GH09I095215 95215459 95215608 0.31 [{'connected_gene': 'RNA5SP288', 'score': 0.19}, {'connected_gene': 'LOC643342', 'score': 0.18}, {'connected_gene': 'FANCC', 'score': 0.08}]
chr9 GH09I095157 95157297 95158143 0.85 [{'connected_gene': 'RNA5SP288', 'score': 0.37}, {'connected_gene': 'LOC643342', 'score': 0.12}, {'connected_gene': 'FANCC', 'score': 0.06}]
chr9 GH09I094907 94907396 94910563 1.05 [{'connected_gene': 'MIR2278', 'score': 12.36}, {'connected_gene': 'LOC101928119', 'score': 12.0}, {'connected_gene': 'FBP1', 'score': 5.31}, {'connected_gene': 'FANCC', 'score': 5.21}, {'connected_gene': 'ENSG00000236095', 'score': 0.44}, {'connected_gene': 'C9orf3', 'score': 0.09}]
chr9 GH09I095099 95099884 95103709 0.92 [{'connected_gene': 'PIR51992', 'score': 550.77}, {'connected_gene': 'FBP1', 'score': 10.31}, {'connected_gene': 'C9orf3', 'score': 5.61}, {'connected_gene': 'PIR48893', 'score': 0.44}, {'connected_gene': 'FANCC', 'score': 0.05}]
chr9 GH09I095098 95098059 95099278 0.2 [{'connected_gene': 'GC09M095104', 'score': 550.77}, {'connected_gene': 'PIR54475', 'score': 550.77}, {'connected_gene': 'FBP1', 'score': 10.31}, {'connected_gene': 'ENSG00000269929', 'score': 4.46}, {'connected_gene': 'PIR42367', 'score': 0.44}, {'connected_gene': 'FANCC', 'score': 0.05}, {'connected_gene': 'C9orf3', 'score': 0.05}]
chr9 GH09I095138 95138699 95138848 0.46 [{'connected_gene': 'ENSG00000229065', 'score': 12.07}, {'connected_gene': 'LOC101928119', 'score': 10.79}, {'connected_gene': 'FBP1', 'score': 9.72}, {'connected_gene': 'RNA5SP288', 'score': 0.77}, {'connected_gene': 'PIR45601', 'score': 0.39}, {'connected_gene': 'FANCC', 'score': 0.06}, {'connected_gene': 'C9orf3', 'score': 0.05}]
chr9 GH09I095134 95134017 95134887 0.54 [{'connected_gene': 'ENSG00000229065', 'score': 12.1}, {'connected_gene': 'LOC101928119', 'score': 10.8}, {'connected_gene': 'FBP1', 'score': 9.72}, {'connected_gene': 'PIR45601', 'score': 0.44}, {'connected_gene': 'RNA5SP288', 'score': 0.44}, {'connected_gene': 'FANCC', 'score': 0.06}, {'connected_gene': 'C9orf3', 'score': 0.05}]
chr9 GH09I095130 95130599 95132108 0.85 [{'connected_gene': 'PIR45601', 'score': 0.77}, {'connected_gene': 'RNA5SP288', 'score': 0.39}, {'connected_gene': 'FANCC', 'score': 0.06}, {'connected_gene': 'C9orf3', 'score': 0.05}]
chr9 GH09I095133 95133079 95133228 0.74 [{'connected_gene': 'PIR45601', 'score': 0.44}, {'connected_gene': 'RNA5SP288', 'score': 0.44}, {'connected_gene': 'FANCC', 'score': 0.06}, {'connected_gene': 'C9orf3', 'score': 0.05}]
chr9 GH09I095127 95127439 95128348 1.22 [{'connected_gene': 'PIR45601', 'score': 550.77}, {'connected_gene': 'RNA5SP288', 'score': 0.39}, {'connected_gene': 'FANCC', 'score': 0.06}, {'connected_gene': 'C9orf3', 'score': 0.05}]
chr9 GH09I095106 95106482 95108758 0.58 [{'connected_gene': 'PIR48893', 'score': 550.77}, {'connected_gene': 'MIR3074', 'score': 12.71}, {'connected_gene': 'MIR23B', 'score': 12.71}, {'connected_gene': 'MIR27B', 'score': 12.71}, {'connected_gene': 'PIR51992', 'score': 0.44}, {'connected_gene': 'FANCC', 'score': 0.06}, {'connected_gene': 'C9orf3', 'score': 0.05}]
chr9 GH09I095125 95125099 95125228 0.31 [{'connected_gene': 'GC09P095125', 'score': 550.77}, {'connected_gene': 'PIR45601', 'score': 550.77}, {'connected_gene': 'RPS26P37', 'score': 550.77}, {'connected_gene': 'PIR59520', 'score': 550.77}, {'connected_gene': 'FBP1', 'score': 10.21}, {'connected_gene': 'FANCC', 'score': 0.06}, {'connected_gene': 'C9orf3', 'score': 0.05}]
chr9 GH09I095116 95116079 95116228 0.74 [{'connected_gene': 'ENSG00000229065', 'score': 0.77}, {'connected_gene': 'RPS26P37', 'score': 0.44}, {'connected_gene': 'FANCC', 'score': 0.06}, {'connected_gene': 'C9orf3', 'score': 0.05}]

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