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
ENST00000353533 [[11924140, 11924318], [11958205, 11958308], [11984672, 11984847], [11998891, 11999011], [12011106, 12011226], [12013691, 12013743], [12016549, 12016677], [12028610, 12028688], [12032455, 12032604], [12043155, 12043201], [12044463, 12047140]] [[11924203, 11924318], [11958205, 11958308], [11984672, 11984847], [11998891, 11999011], [12011106, 12011226], [12013691, 12013743], [12016549, 12016677], [12028610, 12028688], [12032455, 12032604], [12043155, 12043201], [12044463, 12044577]]
ENST00000582183 [[11924145, 11924318], [11998891, 11999011], [12011106, 12011226], [12013691, 12013743], [12016549, 12016635]] [[11924203, 11924318], [11998891, 11998914]]
ENST00000415385 [[11924150, 11924318], [11935582, 11935615], [11958205, 11958308], [11984672, 11984847], [11998891, 11999011], [12011106, 12011226], [12013691, 12013743], [12016549, 12016677], [12028610, 12028688], [12032455, 12032604], [12043155, 12043201], [12044463, 12047147]] [[11924203, 11924318], [11935582, 11935615], [11958205, 11958308], [11984672, 11984847], [11998891, 11999011], [12011106, 12011226], [12013691, 12013743], [12016549, 12016677], [12028610, 12028688], [12032455, 12032604], [12043155, 12043201], [12044463, 12044577]]
ENST00000602375 [[11924186, 11924318], [11958205, 11958308], [11998891, 11999011], [12011106, 12011226], [12013691, 12013743], [12016549, 12016677], [12028610, 12028688], [12032455, 12032604], [12043155, 12043201], [12044463, 12044599]] [[11924203, 11924318], [11958205, 11958308], [11998891, 11998952]]
ENST00000602811 [[11924186, 11924318], [11984672, 11984847], [11998891, 11999011], [12011106, 12011226], [12013691, 12013743], [12016549, 12016677], [12028610, 12028688], [12032455, 12032604], [12043155, 12043201], [12044463, 12044599]] [[11924203, 11924318], [11984672, 11984683]]
ENST00000602305 [[11924186, 11924318], [11998891, 11999011], [12011106, 12011226], [12013691, 12013743], [12016549, 12016677], [12028610, 12028688], [12032455, 12032604], [12043155, 12043201], [12044463, 12044599]] [[11924203, 11924318], [11998891, 11998914]]
ENST00000602686 [[11924203, 11924318], [11984672, 11984847], [11998891, 11999011], [12013691, 12013743], [12016549, 12016677], [12028610, 12028688], [12032455, 12032604], [12043155, 12043201], [12044463, 12044577]] [[11924203, 11924318], [11984672, 11984683]]
ENST00000602537 [[11924203, 11924318], [11984672, 11984847], [11998891, 11999011], [12011106, 12011226], [12013691, 12013743], [12016549, 12016677], [12028610, 12028688], [12043155, 12043201], [12044463, 12044577]] [[11924203, 11924318], [11984672, 11984683]]
ENST00000538465 [[11924292, 11924318], [11998891, 11999011], [12013691, 12013743], [12016549, 12016677], [12028610, 12028688], [12043155, 12043201], [12044463, 12044938]] [[11924292, 11924318], [11998891, 11998914]]
ENST00000582897 [[11930203, 11930287], [11958205, 11958308], [11984672, 11984847], [11998891, 11999011]] None
ENST00000581941 [[11972973, 11973166], [11984672, 11984847], [11998891, 11999011], [12011106, 12011226], [12013691, 12013743], [12016549, 12016677], [12028610, 12028635]] None
ENST00000579089 [[11973072, 11973166], [11998891, 11999011], [12011106, 12011226], [12013691, 12013743], [12016549, 12016677], [12028610, 12028667]] None
ENST00000582377 [[11998918, 11999011], [12011106, 12011226], [12013691, 12014126]] None
ENST00000585076 [[12016356, 12016677], [12028610, 12028688], [12032455, 12032599]] None
ENST00000536413 [[12027615, 12028688], [12032455, 12032604], [12043155, 12043201], [12044463, 12047047]] None
NM_003010 [[11924134, 11924318], [11958205, 11958308], [11984672, 11984847], [11998891, 11999011], [12011106, 12011226], [12013691, 12013743], [12016549, 12016677], [12028610, 12028688], [12032455, 12032604], [12043155, 12043201], [12044463, 12047148]] [[11924203, 11924318], [11958205, 11958308], [11984672, 11984847], [11998891, 11999011], [12011106, 12011226], [12013691, 12013743], [12016549, 12016677], [12028610, 12028688], [12032455, 12032604], [12043155, 12043201], [12044463, 12044577]]
NM_001281435 [[11924134, 11924318], [11935582, 11935615], [11958205, 11958308], [11984672, 11984847], [11998891, 11999011], [12011106, 12011226], [12013691, 12013743], [12016549, 12016677], [12028610, 12028688], [12032455, 12032604], [12043155, 12043201], [12044463, 12047148]] [[11924203, 11924318], [11935582, 11935615], [11958205, 11958308], [11984672, 11984847], [11998891, 11999011], [12011106, 12011226], [12013691, 12013743], [12016549, 12016677], [12028610, 12028688], [12032455, 12032604], [12043155, 12043201], [12044463, 12044577]]
Promoter
Chrom Start End Description
chr17 11924115 11924126 CAGE_peak_3_at_MAP2K4_5end
chr17 11924129 11924200 CAGE_peak_1_at_MAP2K4_5end
chr17 11973062 11973087 CAGE_peak_4_at_MAP2K4_5end
chr17 11973095 11973133 CAGE_peak_2_at_MAP2K4_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I011996 11996286 11998330 2.03 [{'connected_gene': 'ZNF18', 'score': 550.77}, {'connected_gene': 'MAP2K4', 'score': 7.82}, {'connected_gene': 'GC17M011978', 'score': 0.37}]
chr17 GH17I011990 11990956 11992073 0.2 [{'connected_gene': 'MAP2K4', 'score': 19.54}, {'connected_gene': 'ZNF18', 'score': 0.44}, {'connected_gene': 'GC17M011978', 'score': 0.39}]
chr17 GH17I011987 11987104 11987178 0.52 [{'connected_gene': 'MAP2K4', 'score': 17.82}, {'connected_gene': 'GC17M011978', 'score': 0.44}, {'connected_gene': 'ZNF18', 'score': 0.39}]
chr17 GH17I012041 12041201 12041800 0.77 [{'connected_gene': 'MAP2K4', 'score': 11.65}, {'connected_gene': 'RNU11-2P', 'score': 0.77}, {'connected_gene': 'GC17P012021', 'score': 0.34}, {'connected_gene': 'MIR744', 'score': 0.26}]
chr17 GH17I011943 11943658 11945389 0.49 [{'connected_gene': 'MAP2K4', 'score': 4.97}, {'connected_gene': 'GC17M011972', 'score': 0.31}, {'connected_gene': 'LOC101928350', 'score': 0.21}, {'connected_gene': 'DNAH9', 'score': 0.05}]
chr17 GH17I012020 12020204 12022201 1.88 [{'connected_gene': 'MAP2K4', 'score': 560.32}, {'connected_gene': 'RPL21P122', 'score': 550.77}, {'connected_gene': 'LOC105371539', 'score': 550.77}, {'connected_gene': 'GC17P012021', 'score': 0.77}]
chr17 GH17I012046 12046143 12047495 0.38 [{'connected_gene': 'MAP2K4', 'score': 11.62}, {'connected_gene': 'MIR744', 'score': 11.14}, {'connected_gene': 'RNU11-2P', 'score': 0.39}]
chr17 GH17I012050 12050279 12051403 0.2 [{'connected_gene': 'MIR744', 'score': 11.6}, {'connected_gene': 'MAP2K4', 'score': 11.37}, {'connected_gene': 'RNU11-2P', 'score': 0.39}]
chr17 GH17I012070 12070724 12070853 0.31 [{'connected_gene': 'MIR744', 'score': 0.39}, {'connected_gene': 'RNU11-2P', 'score': 0.29}, {'connected_gene': 'MAP2K4', 'score': 0.25}]
chr17 GH17I012078 12078694 12079062 0.46 [{'connected_gene': 'MIR744', 'score': 0.77}, {'connected_gene': 'RNU11-2P', 'score': 0.26}, {'connected_gene': 'MAP2K4', 'score': 0.22}]
chr17 GH17I012089 12089424 12090563 0.67 [{'connected_gene': 'MIR744', 'score': 0.44}, {'connected_gene': 'LOC103156999', 'score': 0.31}, {'connected_gene': 'MAP2K4', 'score': 0.2}]
chr17 GH17I012023 12023418 12025784 0.82 [{'connected_gene': 'MIR744', 'score': 10.99}, {'connected_gene': 'RPL21P122', 'score': 0.77}, {'connected_gene': 'MAP2K4', 'score': 0.77}, {'connected_gene': 'GC17P012021', 'score': 0.44}, {'connected_gene': 'RNU11-2P', 'score': 0.39}]

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