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
ENST00000265260 [[101292938, 101293123], [101298633, 101298848], [101304280, 101304355], [101309058, 101309114], [101311470, 101313281]] [[101293059, 101293123], [101298633, 101298848], [101304280, 101304355], [101309058, 101309114], [101311470, 101311597]]
ENST00000498274 [[101293029, 101293123], [101298432, 101298848], [101304280, 101304355], [101309058, 101309114], [101311470, 101311615]] [[101293059, 101293123], [101298432, 101298491]]
ENST00000460231 [[101293033, 101293123], [101298685, 101298848], [101304280, 101304355], [101309058, 101309114], [101311470, 101313251]] [[101293059, 101293123], [101298685, 101298795]]
ENST00000469941 [[101293037, 101293123], [101304280, 101304355], [101309058, 101309114], [101311470, 101313281]] [[101309073, 101309114], [101311470, 101311597]]
ENST00000296024 [[101293039, 101293123], [101298633, 101298848], [101304280, 101304355], [101311470, 101313279]] [[101293059, 101293123], [101298633, 101298848], [101304280, 101304355], [101311470, 101311509]]
ENST00000486406 [[101293062, 101293123], [101309058, 101309114], [101311470, 101312095]] None
ENST00000470490 [[101293684, 101293777], [101298633, 101298848], [101304280, 101304355], [101309058, 101309114], [101311470, 101311620]] None
ENST00000465366 [[101308592, 101309114], [101311470, 101311719]] None
NR_135231 [[101292937, 101293123], [101309058, 101309114], [101311470, 101313309]] None
NR_135224 [[101292937, 101293123], [101304280, 101304355], [101309058, 101309114], [101311470, 101313309]] None
NR_135226 [[101292937, 101293123], [101298685, 101298848], [101311470, 101313309]] None
NR_135230 [[101292937, 101293123], [101298685, 101298848], [101309058, 101309114], [101311470, 101313309]] None
NR_135225 [[101292937, 101293123], [101298685, 101298848], [101304283, 101304355], [101309058, 101309114], [101311470, 101313309]] None
NR_135228 [[101292937, 101293123], [101298685, 101298848], [101304280, 101304355], [101311470, 101313309]] None
NR_135223 [[101292937, 101293123], [101298685, 101298848], [101304280, 101304355], [101309058, 101309114], [101311470, 101313309]] None
NM_001320397 [[101292937, 101293123], [101298633, 101298795], [101304326, 101304355], [101309058, 101309114], [101311470, 101313309]] [[101293059, 101293123], [101298633, 101298795], [101304326, 101304355], [101309058, 101309114], [101311470, 101311597]]
NM_001320400 [[101292937, 101293123], [101298633, 101298848], [101311470, 101313309]] [[101293059, 101293123], [101298633, 101298848], [101311470, 101311509]]
NM_001320401 [[101292937, 101293123], [101298633, 101298848], [101309058, 101309114], [101311470, 101313309]] [[101293059, 101293123], [101298633, 101298848], [101309058, 101309114], [101311470, 101311597]]
NM_001320398 [[101292937, 101293123], [101298633, 101298848], [101304283, 101304355], [101309058, 101309114], [101311470, 101313309]] [[101293059, 101293123], [101298633, 101298848], [101304283, 101304355], [101309058, 101309114], [101311470, 101311597]]
NM_001320395 [[101292937, 101293123], [101298633, 101298848], [101304280, 101304355], [101311470, 101313309]] [[101293059, 101293123], [101298633, 101298848], [101304280, 101304355], [101311470, 101311509]]
NM_020357 [[101292937, 101293123], [101298633, 101298848], [101304280, 101304355], [101309058, 101309114], [101311470, 101313309]] [[101293059, 101293123], [101298633, 101298848], [101304280, 101304355], [101309058, 101309114], [101311470, 101311597]]
NM_001320399 [[101292937, 101293123], [101298432, 101298610], [101298685, 101298848], [101304280, 101304355], [101309058, 101309114], [101311470, 101313309]] [[101298554, 101298610], [101298685, 101298848], [101304280, 101304355], [101309058, 101309114], [101311470, 101311597]]
NR_135227 [[101292937, 101293123], [101298432, 101298848], [101304280, 101304355], [101309058, 101309114], [101311470, 101313309]] None
NR_135232 [[101292937, 101293123], [101295543, 101295638], [101298685, 101298848], [101304280, 101304355], [101309058, 101309114], [101311470, 101313309]] None
NR_135229 [[101292937, 101293123], [101295294, 101295638], [101304280, 101304355], [101309058, 101309114], [101311470, 101313309]] None
Promoter
Chrom Start End Description
chr3 101293001 101293063 CAGE_peak_1_at_PCNP_5end
chr3 101312151 101312169 CAGE_peak_2_at_PCNP_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I101572 101572698 101576125 2.08 [{'connected_gene': 'PCNP', 'score': 561.62}, {'connected_gene': 'NXPE3', 'score': 13.97}, {'connected_gene': 'SENP7', 'score': 13.41}, {'connected_gene': 'ZBTB11-AS1', 'score': 11.49}, {'connected_gene': 'RPS18P5', 'score': 0.77}]
chr3 GH03I101560 101560917 101563207 2.03 [{'connected_gene': 'TRMT10C', 'score': 550.77}, {'connected_gene': 'SENP7', 'score': 24.84}, {'connected_gene': 'NXPE3', 'score': 12.77}, {'connected_gene': 'RPL24', 'score': 10.09}, {'connected_gene': 'ZBTB11-AS1', 'score': 9.68}, {'connected_gene': 'IMPG2', 'score': 5.85}, {'connected_gene': 'PDCL3P4', 'score': 5.1}, {'connected_gene': 'PCNP', 'score': 0.39}]
chr3 GH03I101683 101683221 101688387 2.37 [{'connected_gene': 'RPL24', 'score': 574.35}, {'connected_gene': 'LOC105374013', 'score': 550.77}, {'connected_gene': 'GC03P101686', 'score': 550.77}, {'connected_gene': 'ZBTB11-AS1', 'score': 42.56}, {'connected_gene': 'SENP7', 'score': 34.15}, {'connected_gene': 'RPS18P5', 'score': 26.94}, {'connected_gene': 'ZNF90P1', 'score': 19.03}, {'connected_gene': 'ZBTB11', 'score': 16.4}, {'connected_gene': 'TFG', 'score': 10.71}, {'connected_gene': 'PDCL3P4', 'score': 10.62}, {'connected_gene': 'NXPE3', 'score': 10.2}, {'connected_gene': 'PCNP', 'score': 2.81}, {'connected_gene': 'TRMT10C', 'score': 1.36}, {'connected_gene': 'NFKBIZ', 'score': 1.32}]