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
ENST00000373060 [[41514163, 41514605], [41533482, 41533702], [41545723, 41545819], [41552506, 41552629], [41553168, 41553255], [41554746, 41554894], [41555036, 41555250], [41555530, 41555635], [41556381, 41556469], [41557508, 41557592], [41557700, 41557908], [41558008, 41558085], [41558958, 41559060], [41562607, 41562729], [41564913, 41564980], [41565518, 41565688], [41566526, 41570121]] [[41533498, 41533702], [41545723, 41545819], [41552506, 41552629], [41553168, 41553255], [41554746, 41554894], [41555036, 41555250], [41555530, 41555635], [41556381, 41556469], [41557508, 41557592], [41557700, 41557908], [41558008, 41558085], [41558958, 41559060], [41562607, 41562729], [41564913, 41564980], [41565518, 41565688], [41566526, 41566674]]
ENST00000373063 [[41514163, 41514605], [41533482, 41533702], [41545723, 41545819], [41552506, 41552629], [41553168, 41553255], [41554746, 41554894], [41555039, 41555250], [41555530, 41555635], [41556381, 41556469], [41557508, 41557592], [41557736, 41557908], [41558008, 41558085], [41558958, 41559060], [41562607, 41562729], [41564913, 41564980], [41565518, 41565688], [41566526, 41570122]] [[41533498, 41533702], [41545723, 41545819], [41552506, 41552629], [41553168, 41553255], [41554746, 41554894], [41555039, 41555250], [41555530, 41555635], [41556381, 41556469], [41557508, 41557592], [41557736, 41557908], [41558008, 41558085], [41558958, 41559060], [41562607, 41562729], [41564913, 41564980], [41565518, 41565688], [41566526, 41566674]]
ENST00000409208 [[41514310, 41514605], [41533482, 41533702], [41545723, 41545819], [41552506, 41552629], [41553168, 41553255], [41554746, 41554894], [41555036, 41555250], [41555530, 41555635], [41556381, 41556469], [41557508, 41557592], [41557736, 41557908], [41558008, 41558085], [41558958, 41559060], [41562607, 41562729], [41564913, 41564980], [41565518, 41565688], [41566526, 41567697]] [[41533498, 41533702], [41545723, 41545819], [41552506, 41552629], [41553168, 41553255], [41554746, 41554894], [41555036, 41555250], [41555530, 41555635], [41556381, 41556469], [41557508, 41557592], [41557736, 41557908], [41558008, 41558085], [41558958, 41559060], [41562607, 41562729], [41564913, 41564980], [41565518, 41565688], [41566526, 41566674]]
ENST00000373057 [[41514385, 41514605], [41533482, 41533702], [41545723, 41545819], [41552506, 41552629], [41553174, 41553255], [41554746, 41554894], [41555036, 41555250], [41555530, 41555635], [41556381, 41556469], [41557508, 41557592], [41557700, 41557908], [41558008, 41558085], [41558958, 41559060], [41562607, 41562729], [41564913, 41564980], [41565518, 41565688], [41566526, 41567701]] [[41533498, 41533702], [41545723, 41545819], [41552506, 41552629], [41553174, 41553255], [41554746, 41554894], [41555036, 41555250], [41555530, 41555635], [41556381, 41556469], [41557508, 41557592], [41557700, 41557908], [41558008, 41558085], [41558958, 41559060], [41562607, 41562729], [41564913, 41564980], [41565518, 41565688], [41566526, 41566674]]
ENST00000307972 [[41533486, 41533702], [41545723, 41545819], [41552506, 41552629], [41553168, 41553255], [41554746, 41554894], [41555036, 41555250], [41555530, 41555635], [41556381, 41556469], [41557508, 41557592], [41557700, 41557908], [41558008, 41558085], [41558958, 41559060], [41562607, 41562729], [41564913, 41564980], [41565518, 41565688], [41566526, 41568364]] [[41533498, 41533702], [41545723, 41545819], [41552506, 41552629], [41553168, 41553255], [41554746, 41554894], [41555036, 41555250], [41555530, 41555635], [41556381, 41556469], [41557508, 41557592], [41557700, 41557908], [41558008, 41558085], [41558958, 41559060], [41562607, 41562729], [41564913, 41564980], [41565518, 41565688], [41566526, 41566674]]
ENST00000451305 [[41537911, 41538132], [41545723, 41545819], [41552506, 41552556]] [[41538015, 41538132], [41545723, 41545819], [41552506, 41552556]]
NM_001012427 [[41514163, 41514605], [41533482, 41533702], [41545723, 41545819], [41552506, 41552629], [41553174, 41553255], [41554746, 41554894], [41555036, 41555250], [41555530, 41555635], [41556381, 41556469], [41557508, 41557592], [41557700, 41557908], [41558008, 41558085], [41558958, 41559060], [41562607, 41562729], [41564913, 41564980], [41565518, 41565688], [41566526, 41570122]] [[41533498, 41533702], [41545723, 41545819], [41552506, 41552629], [41553174, 41553255], [41554746, 41554894], [41555036, 41555250], [41555530, 41555635], [41556381, 41556469], [41557508, 41557592], [41557700, 41557908], [41558008, 41558085], [41558958, 41559060], [41562607, 41562729], [41564913, 41564980], [41565518, 41565688], [41566526, 41566674]]
NM_138457 [[41514163, 41514605], [41533482, 41533702], [41545723, 41545819], [41552506, 41552629], [41553168, 41553255], [41554746, 41554894], [41555039, 41555250], [41555530, 41555635], [41556381, 41556469], [41557508, 41557592], [41557736, 41557908], [41558008, 41558085], [41558958, 41559060], [41562607, 41562729], [41564913, 41564980], [41565518, 41565688], [41566526, 41570122]] [[41533498, 41533702], [41545723, 41545819], [41552506, 41552629], [41553168, 41553255], [41554746, 41554894], [41555039, 41555250], [41555530, 41555635], [41556381, 41556469], [41557508, 41557592], [41557736, 41557908], [41558008, 41558085], [41558958, 41559060], [41562607, 41562729], [41564913, 41564980], [41565518, 41565688], [41566526, 41566674]]
NM_001012426 [[41514163, 41514605], [41533482, 41533702], [41545723, 41545819], [41552506, 41552629], [41553168, 41553255], [41554746, 41554894], [41555036, 41555250], [41555530, 41555635], [41556381, 41556469], [41557508, 41557592], [41557700, 41557908], [41558008, 41558085], [41558958, 41559060], [41562607, 41562729], [41564913, 41564980], [41565518, 41565688], [41566526, 41570122]] [[41533498, 41533702], [41545723, 41545819], [41552506, 41552629], [41553168, 41553255], [41554746, 41554894], [41555036, 41555250], [41555530, 41555635], [41556381, 41556469], [41557508, 41557592], [41557700, 41557908], [41558008, 41558085], [41558958, 41559060], [41562607, 41562729], [41564913, 41564980], [41565518, 41565688], [41566526, 41566674]]
Promoter
Chrom Start End Description
chr6 41514005 41514026 CAGE_peak_3_at_FOXP4_5end
chr6 41514078 41514158 CAGE_peak_1_at_FOXP4_5end
chr6 41514178 41514192 CAGE_peak_4_at_FOXP4_5end
chr6 41514305 41514359 CAGE_peak_2_at_FOXP4_5end
chr6 41555169 41555196 CAGE_peak_6_at_FOXP4_5end
chr6 41562324 41562340 CAGE_peak_16_at_FOXP4_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I041455 41455218 41457840 1.21 [{'connected_gene': 'MED20', 'score': 18.45}, {'connected_gene': 'TAF8', 'score': 12.06}, {'connected_gene': 'OARD1', 'score': 12.02}, {'connected_gene': 'FOXP4', 'score': 10.92}, {'connected_gene': 'FOXP4-AS1', 'score': 10.91}, {'connected_gene': 'NFYA', 'score': 9.79}, {'connected_gene': 'ENSG00000124593', 'score': 9.72}, {'connected_gene': 'GC06M041477', 'score': 0.34}, {'connected_gene': 'ENSG00000280371', 'score': 0.23}]
chr6 GH06I041595 41595044 41595578 0.38 [{'connected_gene': 'MDFI', 'score': 12.12}, {'connected_gene': 'FOXP4', 'score': 8.93}, {'connected_gene': 'MIR4641', 'score': 0.77}, {'connected_gene': 'GC06M041544', 'score': 0.44}]
chr6 GH06I041601 41601765 41603812 1.32 [{'connected_gene': 'MDFI', 'score': 12.15}, {'connected_gene': 'FOXP4', 'score': 9.89}, {'connected_gene': 'MIR4641', 'score': 0.77}]
chr6 GH06I041556 41556598 41557382 0.49 [{'connected_gene': 'MDFI', 'score': 10.2}, {'connected_gene': 'FOXP4', 'score': 10.01}, {'connected_gene': 'GC06P041980', 'score': 0.44}, {'connected_gene': 'GC06P041785', 'score': 0.44}, {'connected_gene': 'GC06M041544', 'score': 0.29}]
chr6 GH06I041558 41558483 41558632 0.58 [{'connected_gene': 'MDFI', 'score': 10.2}, {'connected_gene': 'GC06P041980', 'score': 0.44}, {'connected_gene': 'GC06P041785', 'score': 0.44}, {'connected_gene': 'FOXP4', 'score': 0.39}, {'connected_gene': 'GC06M041544', 'score': 0.29}]
chr6 GH06I041594 41594423 41594572 0.4 [{'connected_gene': 'MDFI', 'score': 12.12}, {'connected_gene': 'GC06M041544', 'score': 0.77}, {'connected_gene': 'MIR4641', 'score': 0.77}, {'connected_gene': 'FOXP4', 'score': 0.25}]
chr6 GH06I041448 41448449 41452667 1.35 [{'connected_gene': 'USP49', 'score': 11.31}, {'connected_gene': 'FOXP4-AS1', 'score': 10.91}, {'connected_gene': 'FOXP4', 'score': 10.91}, {'connected_gene': 'FRS3', 'score': 9.88}, {'connected_gene': 'GC06M041477', 'score': 0.31}, {'connected_gene': 'ENSG00000280371', 'score': 0.26}]
chr6 GH06I041524 41524156 41525456 0.74 [{'connected_gene': 'ADCY10P1', 'score': 4.75}, {'connected_gene': 'LINC01276', 'score': 0.34}, {'connected_gene': 'FOXP4-AS1', 'score': 0.34}, {'connected_gene': 'FOXP4', 'score': 0.34}]
chr6 GH06I041536 41536233 41539272 1.6 [{'connected_gene': 'TAF8', 'score': 13.17}, {'connected_gene': 'TREM1', 'score': 3.82}, {'connected_gene': 'TREML4', 'score': 2.06}, {'connected_gene': 'TFEB', 'score': 1.4}, {'connected_gene': 'NFYA', 'score': 1.18}, {'connected_gene': 'FOXP4', 'score': 0.44}, {'connected_gene': 'FOXP4-AS1', 'score': 0.39}, {'connected_gene': 'LINC01276', 'score': 0.28}]
chr6 GH06I041592 41592063 41592252 1.1 [{'connected_gene': 'TAF8', 'score': 13.18}, {'connected_gene': 'MDFI', 'score': 11.41}, {'connected_gene': 'UBR2', 'score': 11.04}, {'connected_gene': 'GC06M041544', 'score': 0.77}, {'connected_gene': 'MIR4641', 'score': 0.44}, {'connected_gene': 'FOXP4', 'score': 0.25}]
chr6 GH06I041531 41531283 41533030 1.32 [{'connected_gene': 'TAF8', 'score': 13.17}, {'connected_gene': 'FOXP4', 'score': 0.39}, {'connected_gene': 'FOXP4-AS1', 'score': 0.37}, {'connected_gene': 'LINC01276', 'score': 0.31}]
chr6 GH06I041560 41560171 41563301 1.38 [{'connected_gene': 'FOXP4', 'score': 11.79}, {'connected_gene': 'MDFI', 'score': 10.53}, {'connected_gene': 'CCND3', 'score': 5.38}, {'connected_gene': 'NFYA', 'score': 1.47}, {'connected_gene': 'TAF8', 'score': 1.46}, {'connected_gene': 'TFEB', 'score': 1.16}, {'connected_gene': 'GC06P041980', 'score': 0.39}, {'connected_gene': 'GC06P041785', 'score': 0.39}, {'connected_gene': 'GC06M041544', 'score': 0.31}]
chr6 GH06I041565 41565054 41567602 0.52 [{'connected_gene': 'FOXP4', 'score': 12.08}, {'connected_gene': 'MDFI', 'score': 10.82}, {'connected_gene': 'GC06P041980', 'score': 0.37}, {'connected_gene': 'GC06P041785', 'score': 0.37}, {'connected_gene': 'GC06M041544', 'score': 0.34}]
chr6 GH06I041576 41576601 41579688 1.69 [{'connected_gene': 'FOXP4', 'score': 23.11}, {'connected_gene': 'UBR2', 'score': 15.3}, {'connected_gene': 'FOXP4-AS1', 'score': 11.51}, {'connected_gene': 'MED20', 'score': 9.88}, {'connected_gene': 'FRS3', 'score': 1.25}, {'connected_gene': 'GC06M041544', 'score': 0.39}, {'connected_gene': 'GC06P041980', 'score': 0.31}, {'connected_gene': 'GC06P041785', 'score': 0.31}]
chr6 GH06I041568 41568341 41571017 1.15 [{'connected_gene': 'FOXP4', 'score': 25.09}, {'connected_gene': 'FOXP4-AS1', 'score': 12.19}, {'connected_gene': 'MDFI', 'score': 10.83}, {'connected_gene': 'GC06M041544', 'score': 0.37}, {'connected_gene': 'GC06P041980', 'score': 0.34}, {'connected_gene': 'GC06P041785', 'score': 0.34}]
chr6 GH06I041527 41527730 41528763 1.06 [{'connected_gene': 'FOXP4', 'score': 0.37}, {'connected_gene': 'FOXP4-AS1', 'score': 0.34}, {'connected_gene': 'LINC01276', 'score': 0.31}]
chr6 GH06I041545 41544579 41544612 0.31 [{'connected_gene': 'FOXP4', 'score': 550.77}, {'connected_gene': 'FOXP4-AS1', 'score': 0.77}, {'connected_gene': 'LINC01276', 'score': 0.26}]
chr6 GH06I041544 41544916 41549629 2.28 [{'connected_gene': 'FOXP4', 'score': 562.14}, {'connected_gene': 'FOXP4-AS1', 'score': 556.78}, {'connected_gene': 'GC06P041980', 'score': 550.77}, {'connected_gene': 'GC06P041785', 'score': 550.77}, {'connected_gene': 'GC06M041544', 'score': 0.26}]
chr6 GH06I041580 41580688 41587857 1.23 [{'connected_gene': 'FOXP4', 'score': 22.81}, {'connected_gene': 'FOXP4-AS1', 'score': 11.48}, {'connected_gene': 'ENSG00000124593', 'score': 6.62}, {'connected_gene': 'GC06M041544', 'score': 0.44}, {'connected_gene': 'GC06P041980', 'score': 0.28}, {'connected_gene': 'GC06P041785', 'score': 0.28}]
chr6 GH06I041432 41432428 41432640 0.22 [{'connected_gene': 'FOXP4', 'score': 2.29}, {'connected_gene': 'ENSG00000280371', 'score': 0.31}, {'connected_gene': 'GC06M041477', 'score': 0.25}]
chr6 GH06I041549 41549900 41554189 0.57 [{'connected_gene': 'FOXP4', 'score': 14.54}, {'connected_gene': 'GC06P041980', 'score': 0.77}, {'connected_gene': 'GC06P041785', 'score': 0.77}, {'connected_gene': 'GC06M041544', 'score': 0.28}]
chr6 GH06I041502 41502372 41506408 1.52 [{'connected_gene': 'LINC01276', 'score': 550.77}, {'connected_gene': 'MDFI', 'score': 10.47}, {'connected_gene': 'FOXP4-AS1', 'score': 0.26}, {'connected_gene': 'FOXP4', 'score': 0.26}]
chr6 GH06I041523 41523918 41524141 0.78 [{'connected_gene': 'LINC01276', 'score': 0.34}, {'connected_gene': 'FOXP4-AS1', 'score': 0.34}, {'connected_gene': 'FOXP4', 'score': 0.34}]
chr6 GH06I041517 41517448 41521905 1.11 [{'connected_gene': 'FOXP4-AS1', 'score': 12.62}, {'connected_gene': 'FOXP4', 'score': 12.62}, {'connected_gene': 'LINC01276', 'score': 0.37}]
chr6 GH06I041575 41575179 41575929 0.38 [{'connected_gene': 'FOXP4-AS1', 'score': 11.51}, {'connected_gene': 'FOXP4', 'score': 11.51}, {'connected_gene': 'GC06M041544', 'score': 0.39}, {'connected_gene': 'GC06P041980', 'score': 0.31}, {'connected_gene': 'GC06P041785', 'score': 0.31}]
chr6 GH06I041596 41596045 41598298 0.43 [{'connected_gene': 'MIR4641', 'score': 550.77}, {'connected_gene': 'MDFI', 'score': 12.13}, {'connected_gene': 'FOXP4', 'score': 9.94}, {'connected_gene': 'ENSG00000124593', 'score': 5.68}, {'connected_gene': 'GC06M041544', 'score': 0.44}]
chr6 GH06I041598 41598314 41601118 0.46 [{'connected_gene': 'MIR4641', 'score': 550.77}, {'connected_gene': 'FOXP4', 'score': 15.38}, {'connected_gene': 'MDFI', 'score': 12.13}, {'connected_gene': 'ENSG00000124593', 'score': 6.1}]
chr6 GH06I041626 41626334 41627530 0.49 [{'connected_gene': 'ENSG00000231102', 'score': 10.13}, {'connected_gene': 'TFEB', 'score': 10.12}, {'connected_gene': 'PGC', 'score': 10.1}, {'connected_gene': 'FOXP4', 'score': 7.61}, {'connected_gene': 'MDFI', 'score': 0.44}, {'connected_gene': 'MIR4641', 'score': 0.31}]
chr6 GH06I041590 41590298 41591916 1.04 [{'connected_gene': 'GC06M041544', 'score': 550.77}, {'connected_gene': 'TAF8', 'score': 13.18}, {'connected_gene': 'MDFI', 'score': 11.39}, {'connected_gene': 'UBR2', 'score': 11.04}, {'connected_gene': 'FOXP4', 'score': 9.34}, {'connected_gene': 'ENSG00000124593', 'score': 6.46}, {'connected_gene': 'MIR4641', 'score': 0.44}]
chr6 GH06I041555 41555486 41555939 0.92 [{'connected_gene': 'GC06P041980', 'score': 0.44}, {'connected_gene': 'GC06P041785', 'score': 0.44}, {'connected_gene': 'FOXP4', 'score': 0.44}, {'connected_gene': 'GC06M041544', 'score': 0.29}]
chr6 GH06I041593 41592979 41594337 0.83 [{'connected_gene': 'ENSG00000124593', 'score': 5.73}, {'connected_gene': 'GC06M041544', 'score': 0.77}, {'connected_gene': 'MIR4641', 'score': 0.44}, {'connected_gene': 'FOXP4', 'score': 0.25}]

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