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
ENST00000366988 [[212606228, 212606462], [212615906, 212615967], [212617680, 212617784], [212619171, 212619714]] [[212606285, 212606462], [212615906, 212615967], [212617680, 212617784], [212619171, 212619348]]
ENST00000479589 [[212606264, 212606462], [212617680, 212617784], [212619171, 212619714]] None
ENST00000473900 [[212606314, 212606462], [212615887, 212615967], [212617680, 212617784], [212619171, 212619714]] None
ENST00000472389 [[212606332, 212606462], [212608046, 212608375]] None
NR_026598 [[212606228, 212606462], [212617680, 212617784], [212619171, 212619721]] None
NM_013349 [[212606228, 212606462], [212615906, 212615967], [212617680, 212617784], [212619171, 212619721]] [[212606285, 212606462], [212615906, 212615967], [212617680, 212617784], [212619171, 212619348]]
Promoter
Chrom Start End Description
chr1 212606206 212606217 CAGE_peak_3_at_NENF_5end
chr1 212606219 212606230 CAGE_peak_2_at_NENF_5end
chr1 212606240 212606284 CAGE_peak_1_at_NENF_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I212461 212461928 212462851 0.2 [{'connected_gene': 'TMEM206', 'score': 15.9}, {'connected_gene': 'BATF3', 'score': 10.07}, {'connected_gene': 'LOC105372907', 'score': 0.39}, {'connected_gene': 'NENF', 'score': 0.31}]
chr1 GH01I212457 212457879 212458028 0.85 [{'connected_gene': 'TMEM206', 'score': 11.5}, {'connected_gene': 'ATF3', 'score': 10.83}, {'connected_gene': 'ENSG00000212187', 'score': 10.35}, {'connected_gene': 'BATF3', 'score': 9.98}, {'connected_gene': 'LOC105372907', 'score': 0.39}, {'connected_gene': 'NENF', 'score': 0.31}]
chr1 GH01I212455 212455479 212456865 1.2 [{'connected_gene': 'TMEM206', 'score': 23.1}, {'connected_gene': 'ATF3', 'score': 10.83}, {'connected_gene': 'ENSG00000212187', 'score': 10.35}, {'connected_gene': 'BATF3', 'score': 9.98}, {'connected_gene': 'LOC105372907', 'score': 0.37}, {'connected_gene': 'NENF', 'score': 0.34}]
chr1 GH01I212458 212458709 212461591 0.63 [{'connected_gene': 'TMEM206', 'score': 26.12}, {'connected_gene': 'ATF3', 'score': 10.83}, {'connected_gene': 'ENSG00000212187', 'score': 10.35}, {'connected_gene': 'BATF3', 'score': 10.35}, {'connected_gene': 'LOC101929541', 'score': 7.31}, {'connected_gene': 'NENF', 'score': 6.1}, {'connected_gene': 'LOC105372907', 'score': 0.39}]
chr1 GH01I212464 212464045 212465703 0.43 [{'connected_gene': 'TMEM206', 'score': 24.29}, {'connected_gene': 'LOC105372907', 'score': 11.23}, {'connected_gene': 'ATF3', 'score': 11.04}, {'connected_gene': 'BATF3', 'score': 10.79}, {'connected_gene': 'PPP2R5A', 'score': 5.9}, {'connected_gene': 'NENF', 'score': 0.29}]
chr1 GH01I212452 212452416 212453897 0.72 [{'connected_gene': 'TMEM206', 'score': 20.98}, {'connected_gene': 'LOC105372907', 'score': 11.73}, {'connected_gene': 'ATF3', 'score': 10.82}, {'connected_gene': 'ENSG00000212187', 'score': 10.35}, {'connected_gene': 'BATF3', 'score': 9.98}, {'connected_gene': 'NENF', 'score': 0.34}]
chr1 GH01I212469 212469639 212470921 1.23 [{'connected_gene': 'NENF', 'score': 12.1}, {'connected_gene': 'FAM71A', 'score': 11.48}, {'connected_gene': 'ENSG00000235862', 'score': 11.48}, {'connected_gene': 'ATF3', 'score': 11.41}, {'connected_gene': 'TMEM206', 'score': 11.17}, {'connected_gene': 'BATF3', 'score': 10.93}, {'connected_gene': 'LOC105372907', 'score': 10.52}, {'connected_gene': 'ENSG00000212187', 'score': 9.83}, {'connected_gene': 'VASH2', 'score': 9.66}]
chr1 GH01I212436 212436938 212438492 0.65 [{'connected_gene': 'NENF', 'score': 9.76}, {'connected_gene': 'LOC105372907', 'score': 0.28}]
chr1 GH01I212440 212440358 212441558 0.52 [{'connected_gene': 'NENF', 'score': 9.65}, {'connected_gene': 'LOC105372907', 'score': 0.29}]
chr1 GH01I212430 212430081 212434264 2.19 [{'connected_gene': 'NENF', 'score': 550.77}, {'connected_gene': 'LOC105372906', 'score': 550.77}, {'connected_gene': 'LOC101929541', 'score': 32.97}, {'connected_gene': 'TMEM206', 'score': 20.27}, {'connected_gene': 'PPP2R5A', 'score': 15.39}, {'connected_gene': 'DTL', 'score': 10.0}, {'connected_gene': 'INTS7', 'score': 10.0}, {'connected_gene': 'ENSG00000212187', 'score': 9.55}, {'connected_gene': 'BATF3', 'score': 9.39}]
chr1 GH01I212449 212449950 212451903 0.74 [{'connected_gene': 'NENF', 'score': 8.96}, {'connected_gene': 'LINC01740', 'score': 8.78}, {'connected_gene': 'TMEM206', 'score': 4.99}, {'connected_gene': 'LOC105372907', 'score': 0.34}]
chr1 GH01I212466 212466310 212468400 1.03 [{'connected_gene': 'LOC105372907', 'score': 16.16}, {'connected_gene': 'TMEM206', 'score': 11.17}, {'connected_gene': 'ATF3', 'score': 11.04}, {'connected_gene': 'BATF3', 'score': 10.8}, {'connected_gene': 'NENF', 'score': 0.29}]
chr1 GH01I212497 212497819 212498942 0.92 [{'connected_gene': 'LOC105372907', 'score': 39.5}, {'connected_gene': 'ATF3', 'score': 11.3}, {'connected_gene': 'NENF', 'score': 11.2}, {'connected_gene': 'BATF3', 'score': 10.15}, {'connected_gene': 'TMEM206', 'score': 9.84}, {'connected_gene': 'LOC105372908', 'score': 0.37}]
chr1 GH01I212476 212476947 212478598 1.59 [{'connected_gene': 'LOC105372907', 'score': 42.52}, {'connected_gene': 'ATF3', 'score': 27.74}, {'connected_gene': 'NENF', 'score': 11.92}, {'connected_gene': 'FAM71A', 'score': 11.49}, {'connected_gene': 'ENSG00000235862', 'score': 11.49}, {'connected_gene': 'BATF3', 'score': 10.93}, {'connected_gene': 'TMEM206', 'score': 10.31}, {'connected_gene': 'RPL21P28', 'score': 10.09}, {'connected_gene': 'ENSG00000212187', 'score': 9.83}, {'connected_gene': 'VASH2', 'score': 9.66}, {'connected_gene': 'LOC105372908', 'score': 0.28}]
chr1 GH01I212474 212474174 212475868 0.46 [{'connected_gene': 'LOC105372907', 'score': 16.09}, {'connected_gene': 'NENF', 'score': 11.92}, {'connected_gene': 'FAM71A', 'score': 11.49}, {'connected_gene': 'ENSG00000235862', 'score': 11.48}, {'connected_gene': 'ATF3', 'score': 11.42}, {'connected_gene': 'BATF3', 'score': 10.93}, {'connected_gene': 'TMEM206', 'score': 10.32}, {'connected_gene': 'ENSG00000212187', 'score': 9.83}, {'connected_gene': 'VASH2', 'score': 9.66}, {'connected_gene': 'ENSG00000260805', 'score': 5.54}, {'connected_gene': 'LOC105372908', 'score': 0.28}]
chr1 GH01I212471 212471244 212473023 0.31 [{'connected_gene': 'LOC105372907', 'score': 598.66}, {'connected_gene': 'NENF', 'score': 11.93}, {'connected_gene': 'FAM71A', 'score': 11.48}, {'connected_gene': 'ENSG00000235862', 'score': 11.48}, {'connected_gene': 'ATF3', 'score': 11.42}, {'connected_gene': 'BATF3', 'score': 10.93}, {'connected_gene': 'TMEM206', 'score': 10.32}, {'connected_gene': 'ENSG00000212187', 'score': 9.83}, {'connected_gene': 'VASH2', 'score': 9.66}]
chr1 GH01I212445 212445286 212447273 0.43 [{'connected_gene': 'LOC105372907', 'score': 13.93}, {'connected_gene': 'NENF', 'score': 9.82}]
chr1 GH01I212448 212448909 212449763 0.2 [{'connected_gene': 'LOC101929541', 'score': 18.32}, {'connected_gene': 'NENF', 'score': 0.37}, {'connected_gene': 'LOC105372907', 'score': 0.34}]