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
ENST00000520584 [[144328990, 144329919], [144331859, 144333510], [144335057, 144335761]] [[144332013, 144332610]]
ENST00000330701 [[144329097, 144329312], [144331859, 144333510], [144341944, 144344875]] [[144332013, 144332610]]
ENST00000522233 [[144329100, 144329312], [144330324, 144330660]] None
ENST00000517702 [[144331310, 144331669], [144331859, 144331926]] None
NM_001271156 [[144328990, 144329919], [144331859, 144333510], [144335057, 144335761]] [[144332010, 144332610]]
NM_173832 [[144329097, 144329312], [144331859, 144333510], [144341944, 144344875]] [[144332010, 144332610]]
Promoter
Chrom Start End Description
chr8 144329092 144329140 CAGE_peak_1_at_ZFP41_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr8 GH08I143231 143231671 143231820 0.68 [{'connected_gene': 'ZNF623', 'score': 14.06}, {'connected_gene': 'AK3P2', 'score': 10.84}, {'connected_gene': 'ZFP41', 'score': 0.37}, {'connected_gene': 'GC08P143216', 'score': 0.37}]
chr8 GH08I143131 143131124 143131293 0.71 [{'connected_gene': 'LY6H', 'score': 12.22}, {'connected_gene': 'ZFP41', 'score': 12.11}, {'connected_gene': 'LY6L', 'score': 0.23}]
chr8 GH08I143217 143217985 143221761 1.49 [{'connected_gene': 'GPIHBP1', 'score': 14.54}, {'connected_gene': 'TOP1MT', 'score': 5.12}, {'connected_gene': 'LY6H', 'score': 2.15}, {'connected_gene': 'MAFA', 'score': 1.48}, {'connected_gene': 'GC08P143216', 'score': 0.77}, {'connected_gene': 'ZFP41', 'score': 0.31}]
chr8 GH08I143223 143223047 143224059 0.31 [{'connected_gene': 'GPIHBP1', 'score': 6.06}, {'connected_gene': 'MINCR', 'score': 4.48}, {'connected_gene': 'GC08P143216', 'score': 0.44}, {'connected_gene': 'ZFP41', 'score': 0.34}]
chr8 GH08I143128 143128804 143128953 0.2 [{'connected_gene': 'ZFP41', 'score': 12.21}, {'connected_gene': 'LY6H', 'score': 12.14}, {'connected_gene': 'ENSG00000243328', 'score': 6.44}, {'connected_gene': 'LY6L', 'score': 0.25}]
chr8 GH08I143595 143595367 143600496 2.09 [{'connected_gene': 'EEF1D', 'score': 573.94}, {'connected_gene': 'TIGD5', 'score': 561.7}, {'connected_gene': 'PIR45575', 'score': 550.77}, {'connected_gene': 'NAPRT', 'score': 59.93}, {'connected_gene': 'CPSF1', 'score': 52.15}, {'connected_gene': 'ZNF623', 'score': 41.49}, {'connected_gene': 'VPS28', 'score': 34.43}, {'connected_gene': 'JRK', 'score': 34.42}, {'connected_gene': 'LOC105375803', 'score': 23.89}, {'connected_gene': 'GPAA1', 'score': 23.87}, {'connected_gene': 'ZNF696', 'score': 22.61}, {'connected_gene': 'ZFP41', 'score': 20.76}, {'connected_gene': 'ENSG00000255050', 'score': 20.76}, {'connected_gene': 'LRRC14', 'score': 18.96}, {'connected_gene': 'SHARPIN', 'score': 17.26}, {'connected_gene': 'GSDMD', 'score': 14.99}, {'connected_gene': 'HSF1', 'score': 13.54}, {'connected_gene': 'PARP10', 'score': 12.18}, {'connected_gene': 'ADCK5', 'score': 11.17}, {'connected_gene': 'ZNF707', 'score': 11.02}, {'connected_gene': 'AK3P2', 'score': 10.78}, {'connected_gene': 'LOC105375798', 'score': 10.23}, {'connected_gene': 'TSSK5P', 'score': 10.1}, {'connected_gene': 'FBXL6', 'score': 9.94}]
chr8 GH08I143275 143275808 143282340 2.12 [{'connected_gene': 'MINCR', 'score': 30.32}, {'connected_gene': 'ZNF623', 'score': 23.03}, {'connected_gene': 'GPAA1', 'score': 21.9}, {'connected_gene': 'PARP10', 'score': 21.24}, {'connected_gene': 'ENSG00000255050', 'score': 19.67}, {'connected_gene': 'ZNF707', 'score': 17.22}, {'connected_gene': 'ZFP41', 'score': 13.95}, {'connected_gene': 'EEF1D', 'score': 13.15}, {'connected_gene': 'ZC3H3', 'score': 12.57}, {'connected_gene': 'RHPN1', 'score': 11.44}, {'connected_gene': 'SHARPIN', 'score': 10.36}, {'connected_gene': 'FAM83H-AS1', 'score': 8.13}, {'connected_gene': 'TOP1MT', 'score': 5.92}, {'connected_gene': 'TIGD5', 'score': 3.54}, {'connected_gene': 'GLI4', 'score': 3.12}, {'connected_gene': 'LY6E', 'score': 2.33}, {'connected_gene': 'PYCR3', 'score': 2.09}, {'connected_gene': 'NAPRT', 'score': 1.9}, {'connected_gene': 'TSTA3', 'score': 1.86}, {'connected_gene': 'ENSG00000264668', 'score': 0.29}]
chr8 GH08I143289 143289002 143292368 2.28 [{'connected_gene': 'ENSG00000272172', 'score': 550.77}, {'connected_gene': 'ZNF696', 'score': 550.77}, {'connected_gene': 'SHARPIN', 'score': 34.16}, {'connected_gene': 'MINCR', 'score': 28.75}, {'connected_gene': 'BREA2', 'score': 19.65}, {'connected_gene': 'TOP1MT', 'score': 14.72}, {'connected_gene': 'ZNF623', 'score': 13.97}, {'connected_gene': 'ZFP41', 'score': 11.99}, {'connected_gene': 'PARP10', 'score': 10.84}, {'connected_gene': 'GPAA1', 'score': 10.65}, {'connected_gene': 'ZC3H3', 'score': 10.46}, {'connected_gene': 'ENSG00000255050', 'score': 9.82}, {'connected_gene': 'RHPN1', 'score': 6.31}, {'connected_gene': 'GC08M143337', 'score': 0.25}]
chr8 GH08I143245 143245451 143248231 1.98 [{'connected_gene': 'ENSG00000264668', 'score': 550.77}, {'connected_gene': 'ZFP41', 'score': 550.77}, {'connected_gene': 'MINCR', 'score': 20.81}, {'connected_gene': 'SHARPIN', 'score': 17.25}, {'connected_gene': 'ZNF707', 'score': 10.9}, {'connected_gene': 'LY6K', 'score': 9.87}, {'connected_gene': 'GLI4', 'score': 7.73}, {'connected_gene': 'FAM83H-AS1', 'score': 6.96}, {'connected_gene': 'TOP1MT', 'score': 5.82}]
chr8 GH08I143261 143261043 143263215 0.31 [{'connected_gene': 'PIR32117', 'score': 550.77}, {'connected_gene': 'GC08P143262', 'score': 550.77}, {'connected_gene': 'MINCR', 'score': 29.16}, {'connected_gene': 'ZFP41', 'score': 11.57}, {'connected_gene': 'FAM83H-AS1', 'score': 7.54}, {'connected_gene': 'RHPN1', 'score': 5.96}, {'connected_gene': 'TOP1MT', 'score': 4.53}, {'connected_gene': 'PIR58179', 'score': 0.77}, {'connected_gene': 'ENSG00000264668', 'score': 0.37}]