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
ENST00000464957 [[1260135, 1260482], [1262620, 1263374]] None
ENST00000343938 [[1260146, 1260482], [1262215, 1262412], [1262620, 1264277]] [[1262290, 1262412], [1262620, 1263143]]
ENST00000488011 [[1260620, 1260975], [1262215, 1262412], [1262620, 1262851]] [[1262290, 1262412], [1262620, 1262851]]
NM_001029885 [[1260142, 1260482], [1262215, 1262412], [1262620, 1264276]] [[1262290, 1262412], [1262620, 1263143]]
Promoter
Chrom Start End Description
chr1 1260169 1260242 CAGE_peak_1_at_GLTPD1_5end
chr1 1260247 1260270 CAGE_peak_3_at_GLTPD1_5end
chr1 1260284 1260304 CAGE_peak_2_at_GLTPD1_5end
chr1 1260598 1260646 CAGE_peak_4_at_GLTPD1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I001323 1323800 1326378 1.97 [{'connected_gene': 'INTS11', 'score': 550.77}, {'connected_gene': 'CPTP', 'score': 550.77}, {'connected_gene': 'ANKRD65', 'score': 17.36}, {'connected_gene': 'SCNN1D', 'score': 7.78}, {'connected_gene': 'MRPL20', 'score': 7.47}, {'connected_gene': 'PIR50275', 'score': 0.77}]
chr1 GH01I001019 1019001 1022441 2.49 [{'connected_gene': 'AGRN', 'score': 565.92}, {'connected_gene': 'ENSG00000272512', 'score': 20.53}, {'connected_gene': 'PLEKHN1', 'score': 5.59}, {'connected_gene': 'C1orf159', 'score': 2.37}, {'connected_gene': 'UBE2J2', 'score': 2.01}, {'connected_gene': 'DVL1', 'score': 1.99}, {'connected_gene': 'CPTP', 'score': 1.95}, {'connected_gene': 'ISG15', 'score': 1.8}, {'connected_gene': 'PUSL1', 'score': 1.69}, {'connected_gene': 'NOC2L', 'score': 1.67}, {'connected_gene': 'AURKAIP1', 'score': 1.58}, {'connected_gene': 'INTS11', 'score': 1.5}, {'connected_gene': 'ATAD3A', 'score': 1.34}, {'connected_gene': 'PIR57007', 'score': 0.34}]
chr1 GH01I001235 1235587 1243534 1.61 [{'connected_gene': 'B3GALT6', 'score': 26.04}, {'connected_gene': 'ANKRD65', 'score': 11.65}, {'connected_gene': 'ATAD3B', 'score': 9.68}, {'connected_gene': 'SDF4', 'score': 8.97}, {'connected_gene': 'AURKAIP1', 'score': 5.44}, {'connected_gene': 'ENSG00000237094', 'score': 5.07}, {'connected_gene': 'CPTP', 'score': 5.04}, {'connected_gene': 'CDK11B', 'score': 4.48}, {'connected_gene': 'PLEKHN1', 'score': 3.09}, {'connected_gene': 'PIR44892', 'score': 0.77}, {'connected_gene': 'C1QTNF12', 'score': 0.44}, {'connected_gene': 'GC01M001138', 'score': 0.34}]
chr1 GH01I001326 1326819 1326878 0.5 [{'connected_gene': 'GC01P001332', 'score': 550.77}, {'connected_gene': 'CPTP', 'score': 550.77}, {'connected_gene': 'PIR50275', 'score': 550.77}, {'connected_gene': 'PIR42896', 'score': 550.77}]