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
ENST00000332303 [[29560352, 29562033]] [[29560994, 29561909]]
NM_138704 [[29560352, 29562020]] [[29560994, 29561909]]
Promoter
Chrom Start End Description
chr15 29561932 29561943 CAGE_peak_3_at_NDNL2_5end
chr15 29561954 29561976 CAGE_peak_2_at_NDNL2_5end
chr15 29561979 29562038 CAGE_peak_1_at_NDNL2_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr15 GH15I029799 29799691 29802548 0.38 [{'connected_gene': 'NSMCE3', 'score': 5.14}, {'connected_gene': 'ENSG00000259523', 'score': 0.34}, {'connected_gene': 'GC15P029731', 'score': 0.19}, {'connected_gene': 'TJP1', 'score': 0.1}]
chr15 GH15I029139 29139473 29140868 0.86 [{'connected_gene': 'NSMCE3', 'score': 11.05}, {'connected_gene': 'HERC2P9', 'score': 5.51}, {'connected_gene': 'GOLGA8M', 'score': 4.67}, {'connected_gene': 'GC15P029119', 'score': 0.34}, {'connected_gene': 'GC15P029234', 'score': 0.16}, {'connected_gene': 'FAM189A1', 'score': 0.04}]
chr15 GH15I029071 29071730 29071844 0.59 [{'connected_gene': 'NSMCE3', 'score': 1.48}, {'connected_gene': 'PIR50840', 'score': 0.77}, {'connected_gene': 'GC15P029119', 'score': 0.25}, {'connected_gene': 'APBA2', 'score': 0.09}]
chr15 GH15I029277 29277577 29279350 0.43 [{'connected_gene': 'NSMCE3', 'score': 0.44}, {'connected_gene': 'ENSG00000259690', 'score': 0.15}, {'connected_gene': 'FAM189A1', 'score': 0.06}]
chr15 GH15I029312 29312308 29313112 0.6 [{'connected_gene': 'NSMCE3', 'score': 11.41}, {'connected_gene': 'ENSG00000259690', 'score': 0.21}, {'connected_gene': 'FAM189A1', 'score': 0.07}]
chr15 GH15I029268 29268000 29271704 1.97 [{'connected_gene': 'NSMCE3', 'score': 556.17}, {'connected_gene': 'ENSG00000259690', 'score': 0.14}, {'connected_gene': 'FAM189A1', 'score': 0.06}]
chr15 GH15I029309 29309237 29309386 0.67 [{'connected_gene': 'NSMCE3', 'score': 11.42}, {'connected_gene': 'ENSG00000259690', 'score': 0.2}, {'connected_gene': 'FAM189A1', 'score': 0.07}]
chr15 GH15I029319 29319810 29320287 0.2 [{'connected_gene': 'NSMCE3', 'score': 0.23}, {'connected_gene': 'ENSG00000259690', 'score': 0.22}, {'connected_gene': 'FAM189A1', 'score': 0.07}]
chr15 GH15I029348 29348215 29349086 0.2 [{'connected_gene': 'NSMCE3', 'score': 11.25}, {'connected_gene': 'ENSG00000259690', 'score': 0.31}, {'connected_gene': 'FAM189A1', 'score': 0.07}]
chr15 GH15I028987 28986240 28986439 0.72 [{'connected_gene': 'APBA2', 'score': 10.08}, {'connected_gene': 'NSMCE3', 'score': 6.32}, {'connected_gene': 'ENSG00000259277', 'score': 0.44}, {'connected_gene': 'PIR55356', 'score': 0.44}]
chr15 GH15I028984 28984556 28986004 1.09 [{'connected_gene': 'APBA2', 'score': 9.31}, {'connected_gene': 'HERC2P9', 'score': 6.08}, {'connected_gene': 'NSMCE3', 'score': 1.41}, {'connected_gene': 'ENSG00000259277', 'score': 0.44}, {'connected_gene': 'PIR55356', 'score': 0.44}]
chr15 GH15I029345 29345261 29346493 0.63 [{'connected_gene': 'ENSG00000259690', 'score': 0.29}, {'connected_gene': 'NSMCE3', 'score': 0.18}, {'connected_gene': 'FAM189A1', 'score': 0.07}]
chr15 GH15I029050 29050490 29051644 1 [{'connected_gene': 'PIR60804', 'score': 550.77}, {'connected_gene': 'APBA2', 'score': 5.58}, {'connected_gene': 'NSMCE3', 'score': 5.0}, {'connected_gene': 'PIR55356', 'score': 0.22}]