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
ENST00000216410 [[53241911, 53245176], [53247396, 53247458], [53248501, 53248629], [53250140, 53250203], [53251214, 53251382], [53258145, 53258319]] [[53245028, 53245176], [53247396, 53247458], [53248501, 53248629], [53250140, 53250203], [53251214, 53251368]]
ENST00000554421 [[53242581, 53242764], [53243566, 53243799]] None
ENST00000554230 [[53243274, 53245176], [53247396, 53247458], [53248501, 53248629], [53250140, 53250203], [53258145, 53258228]] [[53245028, 53245176], [53247396, 53247458], [53248501, 53248629], [53250140, 53250144]]
ENST00000557604 [[53245092, 53245176], [53247396, 53247458], [53248501, 53248629], [53250140, 53250203], [53251214, 53251382], [53254550, 53254589], [53258145, 53258386]] [[53245092, 53245176], [53247396, 53247458], [53248501, 53248629], [53250140, 53250203], [53251214, 53251368]]
ENST00000553987 [[53248458, 53248629], [53250140, 53250203]] None
NM_198066 [[53241910, 53245176], [53247396, 53247458], [53248501, 53248629], [53250140, 53250203], [53251214, 53251382], [53258145, 53258386]] [[53245028, 53245176], [53247396, 53247458], [53248501, 53248629], [53250140, 53250203], [53251214, 53251368]]
Promoter
Chrom Start End Description
chr14 53258180 53258218 CAGE_peak_2_at_GNPNAT1_5end
chr14 53258304 53258311 CAGE_peak_3_at_GNPNAT1_5end
chr14 53258314 53258418 CAGE_peak_1_at_GNPNAT1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr14 GH14I052789 52789600 52792953 2.04 [{'connected_gene': 'GNPNAT1', 'score': 550.77}, {'connected_gene': 'LOC105370500', 'score': 550.77}, {'connected_gene': 'STYX', 'score': 22.25}, {'connected_gene': 'GC14P052785', 'score': 0.44}, {'connected_gene': 'ENSG00000258698', 'score': 0.31}]
chr14 GH14I052042 52042757 52044125 0.89 [{'connected_gene': 'PTGER2', 'score': 9.94}, {'connected_gene': 'NID2', 'score': 7.22}, {'connected_gene': 'GNPNAT1', 'score': 4.91}, {'connected_gene': 'GC14M051998', 'score': 0.26}]
chr14 GH14I052058 52058216 52062331 0.31 [{'connected_gene': 'RTRAF', 'score': 10.26}, {'connected_gene': 'NID2', 'score': 5.04}, {'connected_gene': 'GNPNAT1', 'score': 4.44}, {'connected_gene': 'GC14M051998', 'score': 0.21}]
chr14 GH14I052067 52067487 52071085 2.02 [{'connected_gene': 'NID2', 'score': 554.85}, {'connected_gene': 'LOC105378180', 'score': 550.77}, {'connected_gene': 'FRMD6', 'score': 10.88}, {'connected_gene': 'GNPNAT1', 'score': 4.11}]

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