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
ENST00000486207 [[14988213, 14988647], [14989219, 14989400], [14991480, 14991621], [14992652, 14992747]] [[14989240, 14989400], [14991480, 14991621], [14992652, 14992738]]
ENST00000361010 [[14988214, 14988647], [14989219, 14989400], [14991480, 14991621], [14992652, 14992747], [14993766, 14993832]] [[14989240, 14989400], [14991480, 14991621], [14992652, 14992738]]
ENST00000494746 [[14988216, 14988647], [14989219, 14990543], [14991480, 14991562]] None
ENST00000469608 [[14988585, 14988647], [14989219, 14989400], [14990371, 14990543], [14991480, 14991621], [14992652, 14992747], [14993790, 14993818]] [[14989373, 14989400], [14990371, 14990543], [14991480, 14991621], [14992652, 14992738]]
ENST00000359642 [[14989373, 14989400], [14990371, 14990543], [14991480, 14991621], [14992652, 14992747], [14993790, 14993832]] [[14989373, 14989400], [14990371, 14990543], [14991480, 14991621], [14992652, 14992738]]
ENST00000331587 [[14990046, 14990543], [14991480, 14991621], [14992652, 14992747], [14993790, 14993900]] [[14990344, 14990543], [14991480, 14991621], [14992652, 14992738]]
ENST00000396372 [[14990251, 14990543], [14991480, 14991621], [14992652, 14992747], [14993766, 14993819]] [[14990344, 14990543], [14991480, 14991621], [14992652, 14992738]]
NM_001033953 [[14988214, 14988647], [14989219, 14989400], [14991480, 14991621], [14992652, 14992747], [14993766, 14993832]] [[14989240, 14989400], [14991480, 14991621], [14992652, 14992738]]
NR_125898 [[14988214, 14988647], [14989219, 14989400], [14990371, 14990543], [14991480, 14991621], [14992652, 14992747], [14993790, 14993832]] None
NM_001033952 [[14990046, 14990543], [14991480, 14991621], [14992652, 14992747], [14993766, 14993832]] [[14990344, 14990543], [14991480, 14991621], [14992652, 14992738]]
NM_001741 [[14990046, 14990543], [14991480, 14991621], [14992652, 14992747], [14993790, 14993832]] [[14990344, 14990543], [14991480, 14991621], [14992652, 14992738]]
Promoter
Chrom Start End Description
chr11 14992712 14992724 CAGE_peak_2_at_CALCA_5end
chr11 14993888 14993903 CAGE_peak_1_at_CALCA_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I014980 14980516 14981624 0.49 [{'connected_gene': 'OR7E41P', 'score': 0.44}, {'connected_gene': 'CALCA', 'score': 0.44}, {'connected_gene': 'CALCB', 'score': 0.18}]
chr11 GH11I015075 15073544 15073603 1.01 [{'connected_gene': 'CALCB', 'score': 550.1}, {'connected_gene': 'CALCA', 'score': 11.1}, {'connected_gene': 'INSC', 'score': 10.28}, {'connected_gene': 'GC11P015078', 'score': 0.77}, {'connected_gene': 'GC11P015027', 'score': 0.25}]
chr11 GH11I014975 14974415 14974524 0.46 [{'connected_gene': 'CALCA', 'score': 0.77}, {'connected_gene': 'OR7E41P', 'score': 0.39}, {'connected_gene': 'CALCB', 'score': 0.2}]
chr11 GH11I014972 14972341 14972400 0.73 [{'connected_gene': 'CALCA', 'score': 550.77}, {'connected_gene': 'OR7E41P', 'score': 0.37}, {'connected_gene': 'CALCB', 'score': 0.2}]
chr11 GH11I014976 14974855 14975004 0.59 [{'connected_gene': 'CALCA', 'score': 0.77}, {'connected_gene': 'OR7E41P', 'score': 0.39}, {'connected_gene': 'CALCB', 'score': 0.2}]
chr11 GH11I014974 14974635 14974744 0.49 [{'connected_gene': 'CALCA', 'score': 0.77}, {'connected_gene': 'OR7E41P', 'score': 0.39}, {'connected_gene': 'CALCB', 'score': 0.2}]
chr11 GH11I015073 15073801 15074000 0.65 [{'connected_gene': 'CALCA', 'score': 11.1}, {'connected_gene': 'INSC', 'score': 10.28}, {'connected_gene': 'GC11P015078', 'score': 0.77}, {'connected_gene': 'GC11P015027', 'score': 0.25}, {'connected_gene': 'CALCB', 'score': 0.1}]
chr11 GH11I015074 15074235 15075399 1.1 [{'connected_gene': 'COPB1', 'score': 18.63}, {'connected_gene': 'CYP2R1', 'score': 11.76}, {'connected_gene': 'CALCA', 'score': 11.1}, {'connected_gene': 'INSC', 'score': 10.28}, {'connected_gene': 'GC11P015078', 'score': 0.77}, {'connected_gene': 'GC11P015027', 'score': 0.25}, {'connected_gene': 'CALCB', 'score': 0.1}]