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
ENST00000367704 [[173837219, 173837393], [173838062, 173838258], [173839334, 173840286], [173854773, 173855774]] [[173839363, 173840286], [173854773, 173854777]]
ENST00000432989 [[173837492, 173837543], [173838062, 173838258], [173839337, 173840286], [173842604, 173842776]] [[173839363, 173840286], [173842604, 173842767]]
ENST00000427304 [[173837492, 173837543], [173838062, 173838258], [173839334, 173840286], [173842604, 173842704], [173854773, 173855774]] [[173839363, 173840286], [173842604, 173842704], [173854773, 173855262]]
ENST00000367702 [[173837531, 173837543], [173838062, 173838258], [173839334, 173840286], [173842604, 173842781]] [[173839363, 173840286], [173842604, 173842767]]
ENST00000367701 [[173838093, 173838258], [173839337, 173840286], [173842604, 173842704], [173854773, 173872687]] [[173839363, 173840286], [173842604, 173842704], [173854773, 173855262]]
NM_001346115 [[173837219, 173837393], [173838062, 173838258], [173839337, 173840286], [173854773, 173855774]] [[173839363, 173840286], [173854773, 173854777]]
NM_032522 [[173837434, 173837543], [173838062, 173838258], [173839337, 173840286], [173842604, 173842781]] [[173839363, 173840286], [173842604, 173842767]]
NM_001122770 [[173837434, 173837543], [173838062, 173838258], [173839337, 173840286], [173842604, 173842704], [173854773, 173855774]] [[173839363, 173840286], [173842604, 173842704], [173854773, 173855262]]
Promoter
Chrom Start End Description
chr1 173837214 173837234 CAGE_peak_6_at_ZBTB37_5end
chr1 173837488 173837526 CAGE_peak_1_at_ZBTB37_5end
chr1 173837572 173837581 CAGE_peak_3_at_ZBTB37_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I174158 174157510 174161177 2.08 [{'connected_gene': 'RABGAP1L', 'score': 572.79}, {'connected_gene': 'LOC102724601', 'score': 550.77}, {'connected_gene': 'RC3H1', 'score': 24.11}, {'connected_gene': 'ANKRD45', 'score': 17.6}, {'connected_gene': 'GAS5', 'score': 16.32}, {'connected_gene': 'ZBTB37', 'score': 10.55}, {'connected_gene': 'RNU7-78P', 'score': 0.21}, {'connected_gene': 'GC01M174104', 'score': 0.2}]
chr1 GH01I173861 173861623 173871896 2.14 [{'connected_gene': 'ZBTB37', 'score': 579.4}, {'connected_gene': 'GC01M174036', 'score': 550.77}, {'connected_gene': 'GC01M174029', 'score': 550.77}, {'connected_gene': 'SNORD80', 'score': 550.77}, {'connected_gene': 'SNORD44', 'score': 550.77}, {'connected_gene': 'GC01M174027', 'score': 550.77}, {'connected_gene': 'SNORD77', 'score': 550.77}, {'connected_gene': 'GC01M174033', 'score': 550.77}, {'connected_gene': 'SNORD74', 'score': 550.77}, {'connected_gene': 'GC01M174030', 'score': 550.77}, {'connected_gene': 'GC01M174035', 'score': 550.77}, {'connected_gene': 'GC01M174026', 'score': 550.77}, {'connected_gene': 'SNORD78', 'score': 550.77}, {'connected_gene': 'SNORD76', 'score': 550.77}, {'connected_gene': 'GC01M174034', 'score': 550.77}, {'connected_gene': 'SNORD75', 'score': 550.77}, {'connected_gene': 'GC01M174031', 'score': 550.77}, {'connected_gene': 'GC01M174038', 'score': 550.77}, {'connected_gene': 'SNORD79', 'score': 550.77}, {'connected_gene': 'RC3H1', 'score': 48.37}, {'connected_gene': 'KLHL20', 'score': 34.98}, {'connected_gene': 'DARS2', 'score': 30.46}, {'connected_gene': 'CENPL', 'score': 21.96}, {'connected_gene': 'GAS5', 'score': 20.32}, {'connected_gene': 'GAS5-AS1', 'score': 18.55}, {'connected_gene': 'ANKRD45', 'score': 13.25}, {'connected_gene': 'SERPINC1', 'score': 11.38}, {'connected_gene': 'RNA5SP67', 'score': 11.38}, {'connected_gene': 'LOC101928673', 'score': 10.81}, {'connected_gene': 'RABGAP1L', 'score': 8.16}, {'connected_gene': 'SNORD47', 'score': 0.77}, {'connected_gene': 'SNORD81', 'score': 0.77}, {'connected_gene': 'GC01M174039', 'score': 0.77}, {'connected_gene': 'GC01M174032', 'score': 0.77}, {'connected_gene': 'GC01M174028', 'score': 0.77}, {'connected_gene': 'GC01M174040', 'score': 0.77}, {'connected_gene': 'GC01P173858', 'score': 0.44}]
chr1 GH01I173526 173526787 173527776 0.78 [{'connected_gene': 'ZBTB37', 'score': 13.98}, {'connected_gene': 'ENSG00000238272', 'score': 11.47}, {'connected_gene': 'PRDX6', 'score': 10.6}, {'connected_gene': 'SLC9C2', 'score': 10.45}, {'connected_gene': 'KLHL20', 'score': 10.04}, {'connected_gene': 'GAS5', 'score': 5.57}, {'connected_gene': 'PIR59510', 'score': 0.29}]
chr1 GH01I173823 173823015 173826053 2.11 [{'connected_gene': 'DARS2', 'score': 577.41}, {'connected_gene': 'CENPL', 'score': 550.77}, {'connected_gene': 'RC3H1', 'score': 26.03}, {'connected_gene': 'KLHL20', 'score': 10.17}, {'connected_gene': 'ZBTB37', 'score': 10.02}, {'connected_gene': 'GAS5', 'score': 7.93}]
chr1 GH01I173940 173940602 173940800 0.28 [{'connected_gene': 'SERPINC1', 'score': 28.32}, {'connected_gene': 'ZBTB37', 'score': 12.73}, {'connected_gene': 'GAS5', 'score': 11.09}, {'connected_gene': 'SNORD81', 'score': 11.08}, {'connected_gene': 'KLHL20', 'score': 9.66}, {'connected_gene': 'RC3H1', 'score': 2.05}, {'connected_gene': 'GC01M174041', 'score': 0.77}, {'connected_gene': 'GC01M174042', 'score': 0.31}]
chr1 GH01I173924 173924911 173927275 0.72 [{'connected_gene': 'ANKRD45', 'score': 15.42}, {'connected_gene': 'GAS5', 'score': 15.29}, {'connected_gene': 'SERPINC1', 'score': 14.91}, {'connected_gene': 'ZBTB37', 'score': 11.17}, {'connected_gene': 'SNORD81', 'score': 11.15}, {'connected_gene': 'CENPL', 'score': 10.36}, {'connected_gene': 'DARS2', 'score': 10.36}, {'connected_gene': 'KLHL20', 'score': 9.42}, {'connected_gene': 'RNA5SP67', 'score': 0.44}, {'connected_gene': 'GC01M174041', 'score': 0.39}]
chr1 GH01I174020 174020333 174024197 1.77 [{'connected_gene': 'RC3H1', 'score': 550.77}, {'connected_gene': 'LOC105371620', 'score': 550.77}, {'connected_gene': 'ANKRD45', 'score': 17.26}, {'connected_gene': 'ZBTB37', 'score': 9.87}, {'connected_gene': 'GAS5', 'score': 4.18}, {'connected_gene': 'RC3H1-IT1', 'score': 0.44}]
chr1 GH01I174015 174015055 174015265 0.23 [{'connected_gene': 'RC3H1-IT1', 'score': 550.77}, {'connected_gene': 'ZBTB37', 'score': 13.6}, {'connected_gene': 'SERPINC1', 'score': 12.43}, {'connected_gene': 'GAS5', 'score': 10.51}, {'connected_gene': 'SNORD81', 'score': 10.5}, {'connected_gene': 'RC3H1', 'score': 7.24}, {'connected_gene': 'GPR52', 'score': 1.4}, {'connected_gene': 'GC01M174037', 'score': 0.25}, {'connected_gene': 'RNA5SP68', 'score': 0.25}]