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
ENST00000196169 [[60970590, 60971144], [61013821, 61013906], [61018820, 61018882], [61034513, 61034674], [61041371, 61041513], [61057908, 61057980], [61059932, 61060082], [61068568, 61068709], [61083896, 61084053], [61084763, 61084889], [61102500, 61103351], [61109241, 61109367], [61141658, 61141784], [61147746, 61148012]] [[61034600, 61034674], [61041371, 61041513], [61057908, 61057980], [61059932, 61060082], [61068568, 61068709], [61083896, 61084053], [61084763, 61084889], [61102500, 61103351], [61109241, 61109367], [61141658, 61141775]]
ENST00000484389 [[60971072, 60971144], [61013821, 61013906], [61034513, 61034674], [61041371, 61041513], [61057908, 61057980], [61058826, 61058891], [61059932, 61060082], [61068568, 61068709], [61083675, 61084053], [61084763, 61084889], [61102500, 61102971]] [[61034600, 61034674], [61041371, 61041513], [61057908, 61057980], [61058826, 61058889]]
ENST00000377894 [[60971121, 60971144], [61013821, 61013906], [61018820, 61018882], [61034513, 61034674], [61041371, 61041513], [61057908, 61057980], [61059932, 61060082], [61068568, 61068709], [61083896, 61084053], [61084763, 61084889], [61102500, 61103351], [61109241, 61109367], [61141658, 61141784], [61147749, 61148011]] [[61034600, 61034674], [61041371, 61041513], [61057908, 61057980], [61059932, 61060082], [61068568, 61068709], [61083896, 61084053], [61084763, 61084889], [61102500, 61103351], [61109241, 61109367], [61141658, 61141775]]
ENST00000535286 [[60971426, 60971539], [61013821, 61013906], [61018816, 61018882], [61034513, 61034674], [61041371, 61041513], [61057908, 61057980], [61059932, 61060082], [61068568, 61068709], [61083896, 61084053], [61084763, 61084889], [61102500, 61103351], [61109241, 61109367], [61141658, 61141784], [61147749, 61148012]] [[60971498, 60971539], [61013821, 61013906], [61018816, 61018882], [61034513, 61034674], [61041371, 61041513], [61057908, 61057980], [61059932, 61060082], [61068568, 61068709], [61083896, 61084053], [61084763, 61084889], [61102500, 61103351], [61109241, 61109367], [61141658, 61141775]]
ENST00000377881 [[60971467, 60971539], [61013821, 61013906], [61018816, 61018882], [61034513, 61034674], [61041371, 61041513], [61057908, 61057980], [61059932, 61060082], [61068568, 61068709], [61083896, 61084053], [61084763, 61084889], [61102500, 61103351], [61109241, 61109367], [61141658, 61141784], [61147749, 61148006]] [[61034600, 61034674], [61041371, 61041513], [61057908, 61057980], [61059932, 61060082], [61068568, 61068709], [61083896, 61084053], [61084763, 61084889], [61102500, 61103351], [61109241, 61109367], [61141658, 61141775]]
ENST00000377882 [[61008182, 61008219], [61013821, 61013906], [61018820, 61018882], [61034513, 61034674], [61041371, 61041513], [61057908, 61057980], [61059932, 61060033]] [[61034600, 61034674], [61041371, 61041513], [61057908, 61057980], [61059932, 61060033]]
ENST00000463109 [[61018820, 61018882], [61034513, 61035134]] None
ENST00000471710 [[61103096, 61103351], [61109241, 61109560]] None
NM_030794 [[60970590, 60971144], [61013821, 61013906], [61018820, 61018882], [61034513, 61034674], [61041371, 61041513], [61057908, 61057980], [61059932, 61060082], [61068568, 61068709], [61083896, 61084053], [61084763, 61084889], [61102500, 61103351], [61109241, 61109367], [61141658, 61141784], [61147749, 61148013]] [[61034600, 61034674], [61041371, 61041513], [61057908, 61057980], [61059932, 61060082], [61068568, 61068709], [61083896, 61084053], [61084763, 61084889], [61102500, 61103351], [61109241, 61109367], [61141658, 61141775]]
NM_001146071 [[60970590, 60971144], [61013821, 61013906], [61018820, 61018882], [61034513, 61034674], [61041371, 61041513], [61057908, 61057980], [61059932, 61060082], [61068568, 61068709], [61083896, 61084053], [61084763, 61084889], [61102500, 61103351], [61109241, 61109367], [61141658, 61141784], [61147746, 61148013]] [[61034600, 61034674], [61041371, 61041513], [61057908, 61057980], [61059932, 61060082], [61068568, 61068709], [61083896, 61084053], [61084763, 61084889], [61102500, 61103351], [61109241, 61109367], [61141658, 61141775]]
NM_001146070 [[60971426, 60971539], [61013821, 61013906], [61018816, 61018882], [61034513, 61034674], [61041371, 61041513], [61057908, 61057980], [61059932, 61060082], [61068568, 61068709], [61083896, 61084053], [61084763, 61084889], [61102500, 61103351], [61109241, 61109367], [61141658, 61141784], [61147749, 61148013]] [[60971498, 60971539], [61013821, 61013906], [61018816, 61018882], [61034513, 61034674], [61041371, 61041513], [61057908, 61057980], [61059932, 61060082], [61068568, 61068709], [61083896, 61084053], [61084763, 61084889], [61102500, 61103351], [61109241, 61109367], [61141658, 61141775]]
Promoter
Chrom Start End Description
chr13 60971080 60971161 CAGE_peak_1_at_TDRD3_5end
chr13 60971200 60971215 CAGE_peak_5_at_TDRD3_5end
chr13 60971332 60971343 CAGE_peak_4_at_TDRD3_5end
chr13 60971348 60971372 CAGE_peak_2_at_TDRD3_5end
chr13 60971455 60971494 CAGE_peak_3_at_TDRD3_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr13 GH13I060351 60351709 60352408 0.2 [{'connected_gene': 'DIAPH3', 'score': 9.46}, {'connected_gene': 'GC13M060319', 'score': 0.37}, {'connected_gene': 'LOC105370228', 'score': 0.34}, {'connected_gene': 'TDRD3', 'score': 0.26}]
chr13 GH13I060352 60351447 60351596 0.31 [{'connected_gene': 'DIAPH3', 'score': 9.46}, {'connected_gene': 'GC13M060319', 'score': 0.37}, {'connected_gene': 'LOC105370228', 'score': 0.34}, {'connected_gene': 'TDRD3', 'score': 0.26}]
chr13 GH13I060161 60161365 60166382 2.23 [{'connected_gene': 'DIAPH3', 'score': 556.97}, {'connected_gene': 'LOC105370227', 'score': 550.77}, {'connected_gene': 'TDRD3', 'score': 13.24}, {'connected_gene': 'GC13M060165', 'score': 0.77}, {'connected_gene': 'DIAPH3-AS2', 'score': 0.37}]
chr13 GH13I060395 60395583 60399821 2.05 [{'connected_gene': 'TDRD3', 'score': 583.64}, {'connected_gene': 'DIAPH3', 'score': 10.33}, {'connected_gene': 'GC13M060411', 'score': 0.34}]
chr13 GH13I060591 60591487 60591616 0.52 [{'connected_gene': 'TDRD3', 'score': 9.37}, {'connected_gene': 'RNA5SP31', 'score': 0.34}, {'connected_gene': 'GC13P060445', 'score': 0.11}]
chr13 GH13I060571 60571752 60573388 0.96 [{'connected_gene': 'TDRD3', 'score': 12.28}, {'connected_gene': 'RNA5SP31', 'score': 0.26}, {'connected_gene': 'GC13P060445', 'score': 0.13}]
chr13 GH13I060582 60582721 60586530 1.04 [{'connected_gene': 'TDRD3', 'score': 24.07}, {'connected_gene': 'RNA5SP31', 'score': 0.31}, {'connected_gene': 'GC13P060445', 'score': 0.12}]
chr13 GH13I060426 60426887 60428146 0.52 [{'connected_gene': 'TDRD3', 'score': 32.79}, {'connected_gene': 'GC13M060411', 'score': 0.44}, {'connected_gene': 'GC13P060445', 'score': 0.37}]
chr13 GH13I060409 60409487 60410567 1.02 [{'connected_gene': 'TDRD3', 'score': 583.36}, {'connected_gene': 'GC13M060411', 'score': 0.44}]
chr13 GH13I060431 60431227 60431376 0.63 [{'connected_gene': 'GC13M060411', 'score': 0.39}, {'connected_gene': 'GC13P060445', 'score': 0.39}, {'connected_gene': 'TDRD3', 'score': 0.29}]