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
ENST00000343060 [[27132611, 27134414], [27134879, 27135593]] [[27134058, 27134414], [27134879, 27135531]]
ENST00000355633 [[27132931, 27134414], [27134879, 27134974], [27135177, 27135615]] [[27134914, 27134974], [27135177, 27135531]]
NM_005522 [[27132611, 27134414], [27134879, 27135625]] [[27134058, 27134414], [27134879, 27135531]]
NM_153620 [[27132611, 27134414], [27134879, 27134974], [27135177, 27135625]] [[27134914, 27134974], [27135177, 27135531]]
Promoter
Chrom Start End Description
chr7 27135054 27135060 CAGE_peak_5_at_HOXA1_5end
chr7 27135418 27135419 CAGE_peak_6_at_HOXA1_5end
chr7 27135533 27135546 CAGE_peak_3_at_HOXA1_5end
chr7 27135568 27135590 CAGE_peak_2_at_HOXA1_5end
chr7 27135591 27135658 CAGE_peak_1_at_HOXA1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr7 GH07I026964 26964401 26964600 0.43 [{'connected_gene': 'SKAP2', 'score': 10.78}, {'connected_gene': 'HOXA2', 'score': 10.03}, {'connected_gene': 'HOXA-AS2', 'score': 10.02}, {'connected_gene': 'HOXA3', 'score': 10.0}, {'connected_gene': 'HOTAIRM1', 'score': 9.81}, {'connected_gene': 'HOXA1', 'score': 9.81}, {'connected_gene': 'GC07M026956', 'score': 0.39}, {'connected_gene': 'GC07M026955', 'score': 0.39}, {'connected_gene': 'GC07P026980', 'score': 0.37}]
chr7 GH07I026918 26918060 26919011 0.2 [{'connected_gene': 'SKAP2', 'score': 13.35}, {'connected_gene': 'HOTAIRM1', 'score': 10.72}, {'connected_gene': 'HOXA1', 'score': 10.72}, {'connected_gene': 'HOXA2', 'score': 10.72}, {'connected_gene': 'RPL7AP38', 'score': 0.77}, {'connected_gene': 'GC07P026846', 'score': 0.18}]
chr7 GH07I026947 26947284 26949966 0.76 [{'connected_gene': 'SKAP2', 'score': 23.39}, {'connected_gene': 'HOTAIRM1', 'score': 11.21}, {'connected_gene': 'HOXA1', 'score': 11.21}, {'connected_gene': 'HOXA2', 'score': 10.84}, {'connected_gene': 'HOXA-AS2', 'score': 10.57}, {'connected_gene': 'HOXA3', 'score': 10.55}, {'connected_gene': 'GC07M026956', 'score': 0.44}, {'connected_gene': 'GC07M026955', 'score': 0.44}, {'connected_gene': 'RPL7AP38', 'score': 0.31}]
chr7 GH07I026735 26735990 26736566 0.38 [{'connected_gene': 'SKAP2', 'score': 17.35}, {'connected_gene': 'HOTAIRM1', 'score': 16.84}, {'connected_gene': 'HOXA1', 'score': 9.64}, {'connected_gene': 'C7orf71', 'score': 9.52}, {'connected_gene': 'SNX10', 'score': 5.5}, {'connected_gene': 'GC07M026718', 'score': 0.44}, {'connected_gene': 'GC07P026673', 'score': 0.21}, {'connected_gene': 'GC07P026242', 'score': 0.04}]
chr7 GH07I026862 26862557 26865671 2.28 [{'connected_gene': 'SKAP2', 'score': 558.35}, {'connected_gene': 'HOTAIRM1', 'score': 22.1}, {'connected_gene': 'HNRNPA2B1', 'score': 12.66}, {'connected_gene': 'HOXA-AS3', 'score': 11.82}, {'connected_gene': 'HOXA4', 'score': 11.82}, {'connected_gene': 'HOXA6', 'score': 11.82}, {'connected_gene': 'HOXA3', 'score': 11.82}, {'connected_gene': 'HOXA5', 'score': 11.82}, {'connected_gene': 'HOXA1', 'score': 11.49}, {'connected_gene': 'HOXA2', 'score': 11.1}, {'connected_gene': 'HOXA9', 'score': 10.74}, {'connected_gene': 'HOXA10-AS', 'score': 10.74}, {'connected_gene': 'HOXA-AS2', 'score': 10.57}, {'connected_gene': 'KIAA0087', 'score': 9.85}, {'connected_gene': 'SNX10', 'score': 5.33}, {'connected_gene': 'GC07P026846', 'score': 0.34}, {'connected_gene': 'RPL7AP38', 'score': 0.22}]
chr7 GH07I027046 27046735 27047820 0.66 [{'connected_gene': 'NHP2P2', 'score': 550.77}, {'connected_gene': 'HOTAIRM1', 'score': 26.64}, {'connected_gene': 'HOXA1', 'score': 11.22}, {'connected_gene': 'HOXA2', 'score': 11.2}, {'connected_gene': 'HOXA-AS2', 'score': 11.03}, {'connected_gene': 'HOXA3', 'score': 10.96}, {'connected_gene': 'SKAP2', 'score': 10.66}, {'connected_gene': 'TPM3P4', 'score': 0.34}]
chr7 GH07I026853 26853902 26854051 0.77 [{'connected_gene': 'HOXA5', 'score': 18.37}, {'connected_gene': 'HOXA-AS3', 'score': 11.99}, {'connected_gene': 'HOXA4', 'score': 11.99}, {'connected_gene': 'HOXA6', 'score': 11.99}, {'connected_gene': 'HOXA3', 'score': 11.99}, {'connected_gene': 'HOTAIRM1', 'score': 11.69}, {'connected_gene': 'HOXA1', 'score': 11.69}, {'connected_gene': 'GC07P026846', 'score': 0.39}, {'connected_gene': 'RPL7AP38', 'score': 0.2}, {'connected_gene': 'SKAP2', 'score': 0.11}]
chr7 GH07I027095 27095069 27181321 3.41 [{'connected_gene': 'HOXA2', 'score': 576.17}, {'connected_gene': 'HOXA9', 'score': 568.02}, {'connected_gene': 'HOXA10', 'score': 565.55}, {'connected_gene': 'HOXA1', 'score': 562.16}, {'connected_gene': 'HOXA3', 'score': 560.98}, {'connected_gene': 'HOXA6', 'score': 557.72}, {'connected_gene': 'HOXA4', 'score': 553.76}, {'connected_gene': 'HOXA5', 'score': 553.17}, {'connected_gene': 'HOXA7', 'score': 552.7}, {'connected_gene': 'HNRNPA2B1', 'score': 58.04}, {'connected_gene': 'HOTAIRM1', 'score': 43.49}, {'connected_gene': 'HOXA10-AS', 'score': 27.61}, {'connected_gene': 'HOXA-AS2', 'score': 21.16}, {'connected_gene': 'CBX3', 'score': 19.35}, {'connected_gene': 'HOXA11-AS', 'score': 15.79}, {'connected_gene': 'HOXA11', 'score': 14.27}, {'connected_gene': 'SKAP2', 'score': 13.15}, {'connected_gene': 'HOXA13', 'score': 12.76}, {'connected_gene': 'ENSG00000253508', 'score': 11.26}, {'connected_gene': 'HOTTIP', 'score': 11.25}, {'connected_gene': 'LOC105375304', 'score': 10.2}, {'connected_gene': 'KIAA0087', 'score': 9.83}, {'connected_gene': 'HOXA-AS3', 'score': 0.44}, {'connected_gene': 'ENSG00000272801', 'score': 0.39}, {'connected_gene': 'ENSG00000273433', 'score': 0.39}, {'connected_gene': 'LOC105375205', 'score': 0.34}, {'connected_gene': 'ENSG00000270182', 'score': 0.34}, {'connected_gene': 'GC07P027116', 'score': 0.34}, {'connected_gene': 'GC07M027172', 'score': 0.29}, {'connected_gene': 'MIR196B', 'score': 0.29}, {'connected_gene': 'ENSG00000277694', 'score': 0.28}, {'connected_gene': 'ENSG00000274396', 'score': 0.28}, {'connected_gene': 'ENSG00000274864', 'score': 0.28}, {'connected_gene': 'ENSG00000276771', 'score': 0.28}, {'connected_gene': 'ENSG00000257184', 'score': 0.26}, {'connected_gene': 'HOXA10-HOXA9', 'score': 0.26}, {'connected_gene': 'ENSG00000276528', 'score': 0.26}]
chr7 GH07I026813 26813526 26813881 0.66 [{'connected_gene': 'HOXA2', 'score': 10.46}, {'connected_gene': 'HOXA-AS2', 'score': 10.46}, {'connected_gene': 'HOXA3', 'score': 10.46}, {'connected_gene': 'HOTAIRM1', 'score': 10.16}, {'connected_gene': 'HOXA1', 'score': 10.16}, {'connected_gene': 'HOXA5', 'score': 6.44}, {'connected_gene': 'GC07P026846', 'score': 0.31}, {'connected_gene': 'GC07M026718', 'score': 0.2}, {'connected_gene': 'SKAP2', 'score': 0.09}, {'connected_gene': 'GC07P026242', 'score': 0.03}]
chr7 GH07I027712 27712143 27713387 0.62 [{'connected_gene': 'HIBADH', 'score': 11.82}, {'connected_gene': 'HOXA1', 'score': 4.36}, {'connected_gene': 'TAX1BP1', 'score': 0.31}, {'connected_gene': 'LOC105375211', 'score': 0.2}]
chr7 GH07I027030 27030496 27032539 0.86 [{'connected_gene': 'HOTAIRM1', 'score': 54.94}, {'connected_gene': 'SKAP2', 'score': 23.51}, {'connected_gene': 'HOXA1', 'score': 11.35}, {'connected_gene': 'HOXA2', 'score': 10.97}, {'connected_gene': 'HOXA-AS2', 'score': 10.42}, {'connected_gene': 'HOXA3', 'score': 10.37}, {'connected_gene': 'TPM3P4', 'score': 0.44}, {'connected_gene': 'NHP2P2', 'score': 0.37}]
chr7 GH07I026855 26855142 26859953 1.26 [{'connected_gene': 'HOTAIRM1', 'score': 36.78}, {'connected_gene': 'HOXA5', 'score': 18.57}, {'connected_gene': 'HOXA-AS3', 'score': 12.19}, {'connected_gene': 'HOXA4', 'score': 12.19}, {'connected_gene': 'HOXA3', 'score': 12.19}, {'connected_gene': 'HOXA6', 'score': 12.19}, {'connected_gene': 'HOXA1', 'score': 11.69}, {'connected_gene': 'HOXA2', 'score': 11.69}, {'connected_gene': 'HOXA-AS2', 'score': 11.16}, {'connected_gene': 'SKAP2', 'score': 6.46}, {'connected_gene': 'GC07P026846', 'score': 0.39}, {'connected_gene': 'RPL7AP38', 'score': 0.21}]
chr7 GH07I026694 26694262 26694411 0.2 [{'connected_gene': 'HOTAIRM1', 'score': 9.87}, {'connected_gene': 'HOXA1', 'score': 9.87}, {'connected_gene': 'GC07P026673', 'score': 0.34}, {'connected_gene': 'GC07M026718', 'score': 0.25}, {'connected_gene': 'SKAP2', 'score': 0.06}, {'connected_gene': 'GC07P026242', 'score': 0.05}]
chr7 GH07I027066 27066282 27066431 0.67 [{'connected_gene': 'HOTAIRM1', 'score': 12.07}, {'connected_gene': 'HOXA1', 'score': 12.07}, {'connected_gene': 'HOXA2', 'score': 12.03}, {'connected_gene': 'HOXA-AS2', 'score': 11.25}, {'connected_gene': 'HOXA3', 'score': 11.16}, {'connected_gene': 'SKAP2', 'score': 10.28}, {'connected_gene': 'NHP2P2', 'score': 0.37}]
chr7 GH07I026860 26860462 26860611 0.74 [{'connected_gene': 'HOXA-AS3', 'score': 11.82}, {'connected_gene': 'HOXA5', 'score': 11.82}, {'connected_gene': 'HOXA4', 'score': 11.82}, {'connected_gene': 'HOXA6', 'score': 11.82}, {'connected_gene': 'HOXA3', 'score': 11.82}, {'connected_gene': 'HOXA2', 'score': 11.11}, {'connected_gene': 'HOTAIRM1', 'score': 11.1}, {'connected_gene': 'HOXA1', 'score': 11.1}, {'connected_gene': 'HOXA-AS2', 'score': 10.57}, {'connected_gene': 'GC07P026846', 'score': 0.37}, {'connected_gene': 'RPL7AP38', 'score': 0.21}, {'connected_gene': 'SKAP2', 'score': 0.12}]
chr7 GH07I027210 27210239 27211438 0.83 [{'connected_gene': 'ENSG00000253308', 'score': 11.75}, {'connected_gene': 'EVX1', 'score': 11.75}, {'connected_gene': 'EVX1-AS', 'score': 11.73}, {'connected_gene': 'HOXA11-AS', 'score': 11.72}, {'connected_gene': 'HOXA11', 'score': 11.72}, {'connected_gene': 'HOXA10', 'score': 11.71}, {'connected_gene': 'HOXA9', 'score': 11.69}, {'connected_gene': 'HOXA1', 'score': 9.33}, {'connected_gene': 'HOTAIRM1', 'score': 9.32}, {'connected_gene': 'HOXA13', 'score': 5.9}, {'connected_gene': 'ENSG00000277553', 'score': 0.77}]
chr7 GH07I027213 27213663 27213798 0.37 [{'connected_gene': 'ENSG00000253308', 'score': 11.77}, {'connected_gene': 'EVX1', 'score': 11.77}, {'connected_gene': 'EVX1-AS', 'score': 11.75}, {'connected_gene': 'HOXA11-AS', 'score': 11.72}, {'connected_gene': 'HOXA11', 'score': 11.72}, {'connected_gene': 'HOXA10', 'score': 11.71}, {'connected_gene': 'HOXA9', 'score': 11.69}, {'connected_gene': 'HOTAIRM1', 'score': 9.32}, {'connected_gene': 'HOXA1', 'score': 9.32}, {'connected_gene': 'ENSG00000277553', 'score': 0.44}]