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
ENST00000287022 [[97238147, 97243360], [97244001, 97244168], [97245383, 97245455], [97247739, 97247862]] [[97243282, 97243360], [97244001, 97244168], [97245383, 97245455], [97247739, 97247758]]
ENST00000517603 [[97242704, 97243360], [97244001, 97244168], [97245383, 97245455], [97246650, 97246764], [97247739, 97247771]] [[97246702, 97246764], [97247739, 97247758]]
ENST00000521036 [[97242942, 97243360], [97243453, 97243743], [97244001, 97244168], [97245383, 97245455], [97247739, 97247774]] [[97243515, 97243743], [97244001, 97244168], [97245383, 97245455], [97247739, 97247758]]
ENST00000518876 [[97243163, 97243360], [97244001, 97247772]] None
ENST00000517523 [[97243166, 97243360], [97243759, 97243849], [97244001, 97244168], [97245383, 97245447]] [[97243780, 97243849], [97244001, 97244163]]
ENST00000518406 [[97243169, 97243360], [97243606, 97243743], [97244001, 97244168], [97245383, 97245455], [97247739, 97247767]] [[97243332, 97243360], [97243606, 97243743], [97244001, 97244168], [97245383, 97245455], [97247739, 97247758]]
ENST00000521948 [[97243290, 97243360], [97244001, 97244168], [97245383, 97246143]] None
ENST00000523920 [[97243322, 97243743], [97244001, 97244168], [97245383, 97245455], [97247739, 97247774]] [[97243515, 97243743], [97244001, 97244168], [97245383, 97245455], [97247739, 97247758]]
ENST00000519322 [[97243524, 97244168], [97245383, 97245455], [97247739, 97247773]] None
NM_001199975 [[97238903, 97243360], [97244001, 97244168], [97245383, 97245455], [97246650, 97246764], [97247739, 97247862]] [[97243282, 97243360], [97244001, 97244163]]
NR_045639 [[97238903, 97243360], [97243453, 97243743], [97244001, 97244168], [97245383, 97245455], [97247739, 97247862]] None
NM_001254752 [[97238903, 97243360], [97243606, 97243743], [97244001, 97244168], [97245383, 97245455], [97247739, 97247862]] [[97243332, 97243360], [97243606, 97243743], [97244001, 97244168], [97245383, 97245455], [97247739, 97247758]]
NM_006294 [[97238903, 97243360], [97244001, 97244168], [97245383, 97245455], [97247739, 97247862]] [[97243282, 97243360], [97244001, 97244168], [97245383, 97245455], [97247739, 97247758]]
Promoter
Chrom Start End Description
chr8 97247759 97247780 CAGE_peak_1_at_UQCRB_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr8 GH08I096231 96231713 96231862 0.63 [{'connected_gene': 'PTDSS1', 'score': 11.71}, {'connected_gene': 'MTERF3', 'score': 11.71}, {'connected_gene': 'GDF6', 'score': 10.67}, {'connected_gene': 'UQCRB', 'score': 0.77}, {'connected_gene': 'LOC101927039', 'score': 0.77}, {'connected_gene': 'GC08P096183', 'score': 0.25}]
chr8 GH08I096233 96233555 96236635 1.99 [{'connected_gene': 'UQCRB', 'score': 550.77}, {'connected_gene': 'LOC101927039', 'score': 550.77}, {'connected_gene': 'MTERF3', 'score': 21.37}, {'connected_gene': 'PTDSS1', 'score': 12.26}, {'connected_gene': 'GC08P096183', 'score': 0.23}]
chr8 GH08I096227 96227253 96227402 0.65 [{'connected_gene': 'MTERF3', 'score': 20.91}, {'connected_gene': 'PTDSS1', 'score': 11.69}, {'connected_gene': 'GDF6', 'score': 10.68}, {'connected_gene': 'UQCRB', 'score': 0.44}, {'connected_gene': 'LOC101927039', 'score': 0.44}, {'connected_gene': 'GC08P096183', 'score': 0.26}]
chr8 GH08I096245 96245893 96247066 0.31 [{'connected_gene': 'MTERF3', 'score': 7.83}, {'connected_gene': 'UQCRB', 'score': 0.39}]
chr8 GH08I096259 96259059 96259118 0.73 [{'connected_gene': 'MTERF3', 'score': 550.77}, {'connected_gene': 'UQCRB', 'score': 0.34}]
chr8 GH08I096267 96267200 96270582 0.89 [{'connected_gene': 'GC08P096270', 'score': 550.77}, {'connected_gene': 'UQCRB', 'score': 11.8}, {'connected_gene': 'LOC101927039', 'score': 11.8}, {'connected_gene': 'PTDSS1', 'score': 0.44}, {'connected_gene': 'LOC105375652', 'score': 0.37}]