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
ENST00000461628 [[10393418, 10393794], [10402724, 10402843], [10404740, 10404827]] [[10393756, 10393794], [10402724, 10402843], [10404740, 10404827]]
ENST00000379613 [[10396909, 10398938], [10400680, 10400822], [10402724, 10402843], [10404740, 10404972], [10407025, 10407077], [10410133, 10410568], [10415173, 10415481]] [[10398649, 10398938], [10400680, 10400822], [10402724, 10402843], [10404740, 10404972], [10407025, 10407077], [10410133, 10410568], [10415173, 10415224]]
ENST00000379604 [[10396915, 10398938], [10400680, 10400822], [10402724, 10402843], [10404740, 10404972], [10407025, 10407077], [10410133, 10410568], [10415173, 10415470]] [[10398649, 10398938], [10400680, 10400822], [10402724, 10402843], [10404740, 10404972], [10407025, 10407077], [10410133, 10410568], [10415173, 10415218]]
ENST00000489805 [[10397642, 10398938], [10400680, 10400822], [10402724, 10402843], [10404740, 10404972], [10407025, 10407077], [10410133, 10410371], [10410514, 10410568], [10411802, 10412408]] [[10407054, 10407077], [10410133, 10410371], [10410514, 10410568], [10411802, 10411829]]
ENST00000319516 [[10398104, 10398938], [10400680, 10400822], [10402724, 10402843], [10404740, 10404972], [10407025, 10407077], [10410133, 10410568], [10419650, 10419871]] [[10398649, 10398938], [10400680, 10400822], [10402724, 10402843], [10404740, 10404972], [10407025, 10407077], [10410133, 10410568], [10419650, 10419683]]
ENST00000379608 [[10398147, 10398938], [10400680, 10400822], [10402724, 10402843], [10404740, 10404972], [10407025, 10407077], [10410133, 10410568], [10411802, 10412607]] [[10398649, 10398938], [10400680, 10400822], [10402724, 10402843], [10404740, 10404972], [10407025, 10407077], [10410133, 10410568], [10411802, 10411829]]
ENST00000488193 [[10398147, 10398938], [10400680, 10400822], [10402724, 10402843], [10404740, 10404972], [10407025, 10407077], [10410133, 10410371], [10410514, 10410568], [10415173, 10415439]] [[10407054, 10407077], [10410133, 10410371], [10410514, 10410568], [10415173, 10415224]]
ENST00000482890 [[10398245, 10398938], [10400680, 10400822], [10402724, 10402843], [10404740, 10404972], [10407025, 10407077], [10410133, 10410568], [10415173, 10415302], [10416154, 10416423]] [[10398649, 10398938], [10400680, 10400822], [10402724, 10402843], [10404740, 10404972], [10407025, 10407077], [10410133, 10410568], [10415173, 10415218]]
ENST00000466073 [[10398834, 10398938], [10402724, 10402843], [10404740, 10404972], [10407025, 10407077], [10410133, 10410568], [10415173, 10415218]] [[10398834, 10398938], [10402724, 10402843], [10404740, 10404972], [10407025, 10407077], [10410133, 10410568], [10415173, 10415218]]
ENST00000497266 [[10398920, 10398938], [10400680, 10400822], [10402724, 10402843], [10404740, 10404972], [10407025, 10407077], [10410133, 10410371], [10410514, 10410568], [10411092, 10411251]] None
ENST00000475264 [[10400946, 10401024], [10402724, 10402843], [10404740, 10404972], [10407025, 10407077], [10410133, 10410327]] [[10400965, 10401024], [10402724, 10402843], [10404740, 10404972], [10407025, 10407077], [10410133, 10410327]]
ENST00000478375 [[10402258, 10402843], [10404740, 10404972], [10407025, 10407077], [10410133, 10410568], [10415173, 10415218]] None
ENST00000498450 [[10402770, 10402843], [10404740, 10404972], [10407025, 10407077], [10415173, 10415233]] [[10402770, 10402843], [10404740, 10404972], [10407025, 10407077], [10415173, 10415224]]
ENST00000490875 [[10404853, 10404972], [10407025, 10407077], [10410133, 10410568], [10417153, 10417440]] None
ENST00000473652 [[10404900, 10404972], [10407025, 10407077], [10410133, 10410371], [10410514, 10410568], [10419650, 10419892]] None
ENST00000474952 [[10406368, 10407077], [10410133, 10410568], [10411802, 10412279]] None
ENST00000462727 [[10407026, 10407077], [10410133, 10410568], [10411092, 10411175]] None
ENST00000464323 [[10409318, 10410568], [10419650, 10419787]] None
ENST00000465858 [[10410229, 10410568], [10412834, 10413112]] [[10410229, 10410568], [10412834, 10413014]]
ENST00000486038 [[10418421, 10418917], [10419650, 10419856]] None
NM_001032280 [[10396915, 10398938], [10400680, 10400822], [10402724, 10402843], [10404740, 10404972], [10407025, 10407077], [10410133, 10410568], [10411802, 10412607]] [[10398649, 10398938], [10400680, 10400822], [10402724, 10402843], [10404740, 10404972], [10407025, 10407077], [10410133, 10410568], [10411802, 10411829]]
NM_003220 [[10396915, 10398938], [10400680, 10400822], [10402724, 10402843], [10404740, 10404972], [10407025, 10407077], [10410133, 10410568], [10415173, 10415470]] [[10398649, 10398938], [10400680, 10400822], [10402724, 10402843], [10404740, 10404972], [10407025, 10407077], [10410133, 10410568], [10415173, 10415218]]
NM_001042425 [[10396915, 10398938], [10400680, 10400822], [10402724, 10402843], [10404740, 10404972], [10407025, 10407077], [10410133, 10410568], [10419650, 10419797]] [[10398649, 10398938], [10400680, 10400822], [10402724, 10402843], [10404740, 10404972], [10407025, 10407077], [10410133, 10410568], [10419650, 10419683]]
Promoter
Chrom Start End Description
chr6 10412249 10412254 CAGE_peak_41_at_TFAP2A_5end
chr6 10412262 10412271 CAGE_peak_21_at_TFAP2A_5end
chr6 10412338 10412345 CAGE_peak_17_at_TFAP2A_5end
chr6 10412392 10412409 CAGE_peak_4_at_TFAP2A_5end
chr6 10412477 10412490 CAGE_peak_10_at_TFAP2A_5end
chr6 10412576 10412599 CAGE_peak_5_at_TFAP2A_5end
chr6 10412600 10412637 CAGE_peak_1_at_TFAP2A_5end
chr6 10412640 10412655 CAGE_peak_14_at_TFAP2A_5end
chr6 10413124 10413132 CAGE_peak_31_at_TFAP2A_5end
chr6 10413188 10413249 CAGE_peak_7_at_TFAP2A_5end
chr6 10415263 10415274 CAGE_peak_8_at_TFAP2A_5end
chr6 10415276 10415341 CAGE_peak_2_at_TFAP2A_5end
chr6 10415484 10415508 CAGE_peak_3_at_TFAP2A_5end
chr6 10415645 10415675 CAGE_peak_19_at_TFAP2A_5end
chr6 10417399 10417415 CAGE_peak_32_at_TFAP2A_5end
chr6 10417454 10417460 CAGE_peak_40_at_TFAP2A_5end
chr6 10417667 10417676 CAGE_peak_54_at_TFAP2A_5end
chr6 10419750 10419757 CAGE_peak_30_at_TFAP2A_5end
chr6 10419768 10419819 CAGE_peak_6_at_TFAP2A_5end
chr6 10419824 10419840 CAGE_peak_9_at_TFAP2A_5end
chr6 10419884 10419898 CAGE_peak_11_at_TFAP2A_5end
chr6 10420285 10420304 CAGE_peak_18_at_TFAP2A_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I010309 10309109 10317601 1.71 [{'connected_gene': 'TFAP2A', 'score': 5.09}, {'connected_gene': 'PAK1IP1', 'score': 1.56}, {'connected_gene': 'LOC105374920', 'score': 0.37}, {'connected_gene': 'GC06M010217', 'score': 0.19}]
chr6 GH06I010440 10440802 10442709 1.21 [{'connected_gene': 'TFAP2A', 'score': 6.48}, {'connected_gene': 'TMEM14C', 'score': 3.0}, {'connected_gene': 'TMEM14B', 'score': 2.29}, {'connected_gene': 'PAK1IP1', 'score': 2.18}, {'connected_gene': 'GCNT2', 'score': 1.36}, {'connected_gene': 'MIR5689', 'score': 0.77}, {'connected_gene': 'MIR5689HG', 'score': 0.44}, {'connected_gene': 'MRPL48P1', 'score': 0.37}]
chr6 GH06I009933 9933115 9933542 0.4 [{'connected_gene': 'TFAP2A', 'score': 4.92}, {'connected_gene': 'PIR31440', 'score': 0.34}, {'connected_gene': 'GC06M010017', 'score': 0.17}, {'connected_gene': 'OFCC1', 'score': 0.06}]
chr6 GH06I010591 10591860 10592153 0.45 [{'connected_gene': 'TFAP2A', 'score': 2.95}, {'connected_gene': 'RPL21P63', 'score': 0.37}, {'connected_gene': 'PIR63050', 'score': 0.28}, {'connected_gene': 'GCNT2', 'score': 0.15}]
chr6 GH06I010382 10382098 10384800 1.37 [{'connected_gene': 'TFAP2A', 'score': 18.89}, {'connected_gene': 'TFAP2A-AS1', 'score': 12.12}, {'connected_gene': 'ENSG00000228478', 'score': 12.07}, {'connected_gene': 'LOC442161', 'score': 0.37}]
chr6 GH06I010398 10398426 10421363 3.44 [{'connected_gene': 'TFAP2A', 'score': 558.88}, {'connected_gene': 'TFAP2A-AS1', 'score': 550.77}, {'connected_gene': 'RNA5SP203', 'score': 32.23}, {'connected_gene': 'ERVFRD-1', 'score': 9.71}, {'connected_gene': 'PAK1IP1', 'score': 5.12}, {'connected_gene': 'TMEM14C', 'score': 4.17}, {'connected_gene': 'TMEM14B', 'score': 3.71}, {'connected_gene': 'C6orf52', 'score': 2.03}]
chr6 GH06I010422 10422339 10424133 0.92 [{'connected_gene': 'RNA5SP203', 'score': 11.21}, {'connected_gene': 'ENSG00000228478', 'score': 0.77}, {'connected_gene': 'TFAP2A', 'score': 0.77}]
chr6 GH06I010396 10396800 10397167 0.71 [{'connected_gene': 'TFAP2A-AS1', 'score': 0.39}, {'connected_gene': 'TFAP2A', 'score': 0.34}, {'connected_gene': 'LOC442161', 'score': 0.29}]
chr6 GH06I010395 10395348 10395584 0.94 [{'connected_gene': 'TFAP2A-AS1', 'score': 0.39}, {'connected_gene': 'TFAP2A', 'score': 0.34}, {'connected_gene': 'LOC442161', 'score': 0.31}]
chr6 GH06I010397 10395781 10396410 0.63 [{'connected_gene': 'TFAP2A-AS1', 'score': 0.39}, {'connected_gene': 'TFAP2A', 'score': 0.34}, {'connected_gene': 'LOC442161', 'score': 0.31}]
chr6 GH06I010393 10393642 10394839 0.98 [{'connected_gene': 'TFAP2A-AS1', 'score': 0.37}, {'connected_gene': 'TFAP2A', 'score': 0.31}, {'connected_gene': 'LOC442161', 'score': 0.31}]
chr6 GH06I010375 10375304 10376326 0.31 [{'connected_gene': 'TFAP2A-AS1', 'score': 12.49}, {'connected_gene': 'TFAP2A', 'score': 12.46}, {'connected_gene': 'ENSG00000228478', 'score': 12.42}, {'connected_gene': 'LOC442161', 'score': 0.44}]
chr6 GH06I010449 10449704 10453949 1.01 [{'connected_gene': 'ENSG00000228478', 'score': 11.48}, {'connected_gene': 'TFAP2A', 'score': 11.46}, {'connected_gene': 'TFAP2A-AS1', 'score': 11.43}, {'connected_gene': 'GCNT2', 'score': 10.93}, {'connected_gene': 'MRPL48P1', 'score': 0.44}, {'connected_gene': 'MIR5689', 'score': 0.39}, {'connected_gene': 'MIR5689HG', 'score': 0.37}]

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