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
ENST00000223321 [[42956459, 42957289], [42957376, 42957434], [42961456, 42961530], [42962923, 42963005], [42964273, 42964396], [42966134, 42966267], [42966981, 42967058], [42971716, 42971822]] [[42957172, 42957289], [42957376, 42957434], [42961456, 42961530], [42962923, 42963005], [42964273, 42964396], [42966134, 42966267], [42966981, 42967058], [42971716, 42971757]]
ENST00000436986 [[42956480, 42957289], [42957376, 42957434], [42961456, 42961530], [42962923, 42963005], [42964273, 42964396], [42966134, 42966267], [42966981, 42967058], [42970694, 42970754], [42971716, 42971753]] [[42970735, 42970754], [42971716, 42971753]]
ENST00000457444 [[42956907, 42957289], [42957376, 42957434], [42961456, 42961530], [42962923, 42963005], [42964273, 42964396], [42966981, 42967063]] [[42964367, 42964396], [42966981, 42967063]]
ENST00000445517 [[42957011, 42957289], [42957376, 42957434], [42961456, 42961530], [42962923, 42963005], [42964273, 42964396], [42971716, 42971784]] [[42957172, 42957289], [42957376, 42957434], [42961456, 42961530], [42962923, 42963005], [42964273, 42964396], [42971716, 42971757]]
ENST00000411875 [[42957672, 42961530], [42962923, 42963005], [42964273, 42964396], [42966134, 42966267], [42971716, 42971771]] [[42966239, 42966267], [42971716, 42971757]]
ENST00000538645 [[42957688, 42961530], [42962923, 42963005], [42964273, 42964396], [42966134, 42966267], [42971716, 42971773]] [[42961452, 42961530], [42962923, 42963005], [42964273, 42964396], [42966134, 42966151]]
NM_002787 [[42956459, 42957289], [42957376, 42957434], [42961456, 42961530], [42962923, 42963005], [42964273, 42964396], [42966134, 42966267], [42966981, 42967058], [42971716, 42971805]] [[42957172, 42957289], [42957376, 42957434], [42961456, 42961530], [42962923, 42963005], [42964273, 42964396], [42966134, 42966267], [42966981, 42967058], [42971716, 42971757]]
Promoter
Chrom Start End Description
chr7 42971759 42971793 CAGE_peak_1_at_PSMA2_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr7 GH07I042940 42940951 42941813 0.95 [{'connected_gene': 'C7orf25', 'score': 27.85}, {'connected_gene': 'MRPL32', 'score': 9.25}, {'connected_gene': 'PSMA2', 'score': 0.44}, {'connected_gene': 'LOC105375253', 'score': 0.39}]
chr7 GH07I042945 42945541 42946672 1.02 [{'connected_gene': 'C7orf25', 'score': 11.23}, {'connected_gene': 'HECW1', 'score': 10.85}, {'connected_gene': 'ENSG00000228680', 'score': 10.42}, {'connected_gene': 'MRPL32', 'score': 0.39}, {'connected_gene': 'LOC105375253', 'score': 0.39}, {'connected_gene': 'PSMA2', 'score': 0.39}]
chr7 GH07I042930 42930277 42933993 2.02 [{'connected_gene': 'MRPL32', 'score': 550.77}, {'connected_gene': 'ENSG00000256646', 'score': 550.77}, {'connected_gene': 'PSMA2', 'score': 550.77}, {'connected_gene': 'C7orf25', 'score': 43.05}, {'connected_gene': 'LOC105375252', 'score': 0.39}]