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
ENST00000400906 [[9063358, 9063577], [9064810, 9064938], [9067368, 9067444], [9070201, 9070303], [9073583, 9073694], [9074739, 9074927], [9075175, 9075301], [9078281, 9078434], [9079267, 9079392], [9082976, 9083137], [9085034, 9085133], [9086353, 9086404]] [[9063358, 9063577], [9064810, 9064938], [9067368, 9067444], [9070201, 9070303], [9073583, 9073694], [9074739, 9074927], [9075175, 9075301], [9078281, 9078434], [9079267, 9079392], [9082976, 9083137], [9085034, 9085133], [9086353, 9086404]]
NM_207420 [[9063358, 9063577], [9064810, 9064938], [9067368, 9067444], [9070201, 9070303], [9073583, 9073694], [9074739, 9074927], [9075175, 9075301], [9078281, 9078434], [9079267, 9079392], [9082976, 9083137], [9085034, 9085133], [9086353, 9086404]] [[9063358, 9063577], [9064810, 9064938], [9067368, 9067444], [9070201, 9070303], [9073583, 9073694], [9074739, 9074927], [9075175, 9075301], [9078281, 9078434], [9079267, 9079392], [9082976, 9083137], [9085034, 9085133], [9086353, 9086404]]
Promoter
Chrom Start End Description
chr1 9086445 9086485 CAGE_peak_1_at_SLC2A7_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I008993 8993307 8995275 0.56 [{'connected_gene': 'CA6', 'score': 13.18}, {'connected_gene': 'SLC2A7', 'score': 12.12}, {'connected_gene': 'RNU6-304P', 'score': 10.86}, {'connected_gene': 'MIR34A', 'score': 10.52}, {'connected_gene': 'LZIC', 'score': 5.7}, {'connected_gene': 'GC01M008979', 'score': 0.39}, {'connected_gene': 'RN7SL451P', 'score': 0.39}]
chr1 GH01I008963 8963002 8963251 0.62 [{'connected_gene': 'CA6', 'score': 0.37}, {'connected_gene': 'GC01M008979', 'score': 0.37}, {'connected_gene': 'RN7SL451P', 'score': 0.37}, {'connected_gene': 'SLC2A7', 'score': 0.21}]
chr1 GH01I009066 9066268 9070646 1.9 [{'connected_gene': 'SLC2A5', 'score': 579.51}, {'connected_gene': 'SLC2A7', 'score': 11.92}, {'connected_gene': 'RNU6-304P', 'score': 10.71}, {'connected_gene': 'GC01P009083', 'score': 0.39}, {'connected_gene': 'PIR51806', 'score': 0.29}]
chr1 GH01I009064 9064078 9065749 0.72 [{'connected_gene': 'SLC2A5', 'score': 12.98}, {'connected_gene': 'SLC2A7', 'score': 11.93}, {'connected_gene': 'RNU6-304P', 'score': 10.71}, {'connected_gene': 'GC01P009083', 'score': 0.37}, {'connected_gene': 'PIR51806', 'score': 0.31}]
chr1 GH01I009051 9051019 9051045 0.33 [{'connected_gene': 'SLC2A7', 'score': 13.39}, {'connected_gene': 'SLC2A5', 'score': 12.47}, {'connected_gene': 'GPR157', 'score': 10.75}, {'connected_gene': 'MIR34A', 'score': 10.73}, {'connected_gene': 'RNU6-304P', 'score': 10.61}, {'connected_gene': 'RERE', 'score': 1.65}, {'connected_gene': 'PIR51806', 'score': 0.37}, {'connected_gene': 'GC01P009083', 'score': 0.29}]
chr1 GH01I009005 9005001 9005594 0.98 [{'connected_gene': 'SLC2A7', 'score': 13.37}, {'connected_gene': 'SLC2A5', 'score': 12.17}, {'connected_gene': 'RNU6-304P', 'score': 10.86}, {'connected_gene': 'MIR34A', 'score': 10.19}, {'connected_gene': 'GC01M008979', 'score': 0.31}, {'connected_gene': 'RN7SL451P', 'score': 0.31}]
chr1 GH01I009021 9021416 9027671 0.96 [{'connected_gene': 'SLC2A7', 'score': 558.06}, {'connected_gene': 'SLC2A5', 'score': 10.36}, {'connected_gene': 'GC01M008979', 'score': 0.26}, {'connected_gene': 'RN7SL451P', 'score': 0.26}]
chr1 GH01I008983 8983782 8983951 0.38 [{'connected_gene': 'SLC2A7', 'score': 12.92}, {'connected_gene': 'RNU6-304P', 'score': 11.0}, {'connected_gene': 'GPR157', 'score': 10.44}, {'connected_gene': 'GC01M008979', 'score': 0.77}, {'connected_gene': 'RN7SL451P', 'score': 0.77}]
chr1 GH01I008985 8985263 8988399 0.96 [{'connected_gene': 'SLC2A7', 'score': 12.94}, {'connected_gene': 'RNU6-304P', 'score': 11.0}, {'connected_gene': 'GPR157', 'score': 10.44}, {'connected_gene': 'GC01M008979', 'score': 0.44}, {'connected_gene': 'RN7SL451P', 'score': 0.44}]
chr1 GH01I009074 9074252 9076963 1.04 [{'connected_gene': 'SLC2A7', 'score': 11.9}, {'connected_gene': 'RNU6-304P', 'score': 10.71}, {'connected_gene': 'SLC2A5', 'score': 9.24}, {'connected_gene': 'GPR157', 'score': 6.52}, {'connected_gene': 'GC01P009083', 'score': 0.44}, {'connected_gene': 'PIR51806', 'score': 0.28}]
chr1 GH01I009011 9010122 9010271 0.59 [{'connected_gene': 'SLC2A7', 'score': 0.37}, {'connected_gene': 'GC01M008979', 'score': 0.29}, {'connected_gene': 'RN7SL451P', 'score': 0.29}]
chr1 GH01I009010 9010802 9011251 0.74 [{'connected_gene': 'SLC2A7', 'score': 0.37}, {'connected_gene': 'GC01M008979', 'score': 0.29}, {'connected_gene': 'RN7SL451P', 'score': 0.29}]
chr1 GH01I009000 9000804 9002618 0.63 [{'connected_gene': 'RNU6-304P', 'score': 10.89}, {'connected_gene': 'SLC2A7', 'score': 0.34}, {'connected_gene': 'GC01M008979', 'score': 0.34}, {'connected_gene': 'RN7SL451P', 'score': 0.34}]
chr1 GH01I008970 8970486 8971600 0.76 [{'connected_gene': 'GC01M008979', 'score': 0.44}, {'connected_gene': 'RN7SL451P', 'score': 0.44}, {'connected_gene': 'CA6', 'score': 0.31}, {'connected_gene': 'SLC2A7', 'score': 0.22}]
chr1 GH01I008971 8970005 8970359 0.28 [{'connected_gene': 'GC01M008979', 'score': 0.44}, {'connected_gene': 'RN7SL451P', 'score': 0.44}, {'connected_gene': 'CA6', 'score': 0.34}, {'connected_gene': 'SLC2A7', 'score': 0.22}]