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
ENST00000356509 [[24775158, 24775340], [24777449, 24777525], [24780890, 24780968], [24781704, 24781849], [24784314, 24784397], [24784671, 24784782], [24785865, 24786323]] [[24777474, 24777525], [24780890, 24780968], [24781704, 24781849], [24784314, 24784397], [24784671, 24784782], [24785865, 24786027]]
ENST00000230056 [[24775165, 24775472], [24777449, 24777525], [24780890, 24780968], [24781704, 24781849], [24784314, 24784397], [24784671, 24784782], [24785865, 24786327]] [[24777474, 24777525], [24780890, 24780968], [24781704, 24781849], [24784314, 24784397], [24784671, 24784782], [24785865, 24786027]]
ENST00000468943 [[24775176, 24775340], [24777449, 24777964]] None
ENST00000378054 [[24775640, 24775730], [24777449, 24777525], [24780890, 24780968], [24781704, 24781849], [24784314, 24784397], [24784671, 24784782], [24785865, 24785935]] [[24777474, 24777525], [24780890, 24780968], [24781704, 24781849], [24784314, 24784397], [24784671, 24784782], [24785865, 24785935]]
ENST00000476555 [[24775694, 24776052], [24777449, 24777525], [24780890, 24780968], [24781704, 24781772]] [[24777474, 24777525], [24780890, 24780968], [24781704, 24781772]]
ENST00000378059 [[24777093, 24777525], [24780890, 24780968], [24781704, 24781849], [24784314, 24784347]] [[24777474, 24777525], [24780890, 24780968], [24781704, 24781849], [24784314, 24784347]]
NM_001251990 [[24775158, 24775264], [24777449, 24777525], [24780890, 24780968], [24781704, 24781849], [24784314, 24784397], [24784671, 24784782], [24785865, 24786327]] [[24777474, 24777525], [24780890, 24780968], [24781704, 24781849], [24784314, 24784397], [24784671, 24784782], [24785865, 24786027]]
NM_001251989 [[24775158, 24775340], [24777449, 24777525], [24780890, 24780968], [24781704, 24781849], [24784314, 24784397], [24784671, 24784782], [24785865, 24786327]] [[24777474, 24777525], [24780890, 24780968], [24781704, 24781849], [24784314, 24784397], [24784671, 24784782], [24785865, 24786027]]
NM_015895 [[24775158, 24775472], [24777449, 24777525], [24780890, 24780968], [24781704, 24781849], [24784314, 24784397], [24784671, 24784782], [24785865, 24786327]] [[24777474, 24777525], [24780890, 24780968], [24781704, 24781849], [24784314, 24784397], [24784671, 24784782], [24785865, 24786027]]
NM_001251991 [[24775640, 24775730], [24777449, 24777525], [24780890, 24780968], [24781704, 24781849], [24784314, 24784397], [24784671, 24784782], [24785865, 24786327]] [[24777474, 24777525], [24780890, 24780968], [24781704, 24781849], [24784314, 24784397], [24784671, 24784782], [24785865, 24786027]]
Promoter
Chrom Start End Description
chr6 24775153 24775242 CAGE_peak_1_at_GMNN_5end
chr6 24775648 24775710 CAGE_peak_2_at_GMNN_5end
chr6 24777040 24777071 CAGE_peak_3_at_GMNN_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I024763 24763210 24764518 0.63 [{'connected_gene': 'C6orf62', 'score': 12.07}, {'connected_gene': 'KIAA0319', 'score': 10.65}, {'connected_gene': 'ENSG00000272402', 'score': 5.25}, {'connected_gene': 'GMNN', 'score': 4.93}, {'connected_gene': 'LOC100289381', 'score': 0.39}]
chr6 GH06I024778 24778812 24780145 0.83 [{'connected_gene': 'C6orf62', 'score': 12.09}, {'connected_gene': 'GMNN', 'score': 6.14}, {'connected_gene': 'C6orf229', 'score': 0.37}]
chr6 GH06I024766 24766833 24766962 0.62 [{'connected_gene': 'C6orf62', 'score': 12.48}, {'connected_gene': 'GMNN', 'score': 0.44}, {'connected_gene': 'LOC100289381', 'score': 0.37}]
chr6 GH06I024770 24770686 24772329 0.88 [{'connected_gene': 'C6orf62', 'score': 24.34}, {'connected_gene': 'GMNN', 'score': 6.06}, {'connected_gene': 'ENSG00000272402', 'score': 5.28}, {'connected_gene': 'LOC100289381', 'score': 0.37}]
chr6 GH06I024683 24683327 24685253 0.76 [{'connected_gene': 'TDP2', 'score': 14.41}, {'connected_gene': 'KIAA0319', 'score': 11.05}, {'connected_gene': 'GMNN', 'score': 10.79}, {'connected_gene': 'ENSG00000272345', 'score': 0.37}, {'connected_gene': 'ACOT13', 'score': 0.37}]
chr6 GH06I024744 24744950 24745542 0.52 [{'connected_gene': 'GMNN', 'score': 12.12}, {'connected_gene': 'C6orf62', 'score': 12.02}, {'connected_gene': 'TDP2', 'score': 5.64}, {'connected_gene': 'LOC105374978', 'score': 0.77}, {'connected_gene': 'LOC100289381', 'score': 0.44}]
chr6 GH06I024773 24773670 24778457 2.12 [{'connected_gene': 'GMNN', 'score': 556.14}, {'connected_gene': 'NUP50P2', 'score': 13.01}, {'connected_gene': 'ENSG00000272402', 'score': 10.03}, {'connected_gene': 'C6orf229', 'score': 0.34}]
chr6 GH06I024780 24780253 24780402 0.38 [{'connected_gene': 'GMNN', 'score': 0.44}, {'connected_gene': 'C6orf229', 'score': 0.37}]
chr6 GH06I024742 24742235 24744856 1.39 [{'connected_gene': 'LOC105374978', 'score': 550.77}, {'connected_gene': 'C6orf62', 'score': 12.87}, {'connected_gene': 'GMNN', 'score': 12.1}, {'connected_gene': 'KIAA0319', 'score': 10.42}, {'connected_gene': 'TDP2', 'score': 4.73}, {'connected_gene': 'KRT8P43', 'score': 4.49}, {'connected_gene': 'LOC100289381', 'score': 0.44}]
chr6 GH06I024799 24799585 24799976 0.7 [{'connected_gene': 'C6orf229', 'score': 550.77}, {'connected_gene': 'GMNN', 'score': 5.72}, {'connected_gene': 'ALDH5A1', 'score': 3.28}, {'connected_gene': 'DCDC2', 'score': 3.18}, {'connected_gene': 'GPLD1', 'score': 1.58}, {'connected_gene': 'ENSG00000282804', 'score': 0.39}]