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
ENST00000561743 [[58033449, 58033587], [58036382, 58036549], [58043832, 58044016], [58048176, 58048230], [58051237, 58051343], [58052875, 58052959], [58054044, 58054446]] [[58036437, 58036549], [58043832, 58044016], [58048176, 58048230], [58051237, 58051343], [58052875, 58052959], [58054044, 58054149]]
ENST00000219281 [[58035276, 58035485], [58036382, 58036549], [58043832, 58044016], [58048176, 58048230], [58051237, 58051343], [58052875, 58052959], [58054044, 58055522]] [[58035387, 58035485], [58036382, 58036549], [58043832, 58044016], [58048176, 58048230], [58051237, 58051343], [58052875, 58052959], [58054044, 58054149]]
ENST00000539737 [[58035308, 58035485], [58036382, 58036549], [58043832, 58044016], [58051237, 58051343], [58052875, 58052959], [58054044, 58054538]] [[58035387, 58035485], [58036382, 58036549], [58043832, 58044016], [58051237, 58051343], [58052875, 58052959], [58054044, 58054149]]
ENST00000423271 [[58035310, 58035485], [58036382, 58036549], [58043832, 58044016], [58044921, 58045612]] [[58035387, 58035485], [58036382, 58036549], [58043832, 58044016], [58044921, 58045033]]
ENST00000561568 [[58035310, 58035492], [58036382, 58036549], [58043832, 58044016], [58048176, 58048230], [58051237, 58051321]] [[58035433, 58035492], [58036382, 58036549], [58043832, 58044016], [58048176, 58048230], [58051237, 58051321]]
ENST00000565662 [[58035310, 58035485], [58036382, 58036549], [58043832, 58044016], [58048176, 58048198], [58051237, 58051343], [58052875, 58052940]] None
ENST00000566292 [[58035319, 58035485], [58036382, 58036549], [58043832, 58044074]] None
ENST00000569252 [[58035319, 58035485], [58036382, 58036567], [58043832, 58044016], [58048176, 58048214]] None
ENST00000562534 [[58035319, 58035485], [58036382, 58036403], [58036519, 58036549], [58043832, 58044016], [58048176, 58048230], [58051237, 58051344]] None
ENST00000568848 [[58035322, 58035485], [58036382, 58036549], [58043832, 58044016], [58045345, 58045379]] None
ENST00000563149 [[58035323, 58035485], [58036382, 58036549], [58043832, 58044016], [58046224, 58047462]] [[58035387, 58035485], [58036382, 58036549], [58043832, 58044016], [58046224, 58046267]]
ENST00000564387 [[58035324, 58035485], [58036382, 58036494], [58043832, 58044016], [58048176, 58048230], [58051237, 58051284]] [[58035387, 58035485], [58036382, 58036494], [58043832, 58043910]]
ENST00000563207 [[58035327, 58035485], [58036382, 58036549], [58048176, 58048230], [58051237, 58051322]] None
ENST00000565151 [[58047532, 58048230], [58051237, 58051343], [58052875, 58052957]] None
ENST00000566082 [[58049016, 58051343], [58052875, 58052959], [58054044, 58055521]] None
NM_001330568 [[58033502, 58033587], [58036382, 58036549], [58043832, 58044016], [58048176, 58048230], [58051237, 58051343], [58052875, 58052959], [58054044, 58055522]] [[58036437, 58036549], [58043832, 58044016], [58048176, 58048230], [58051237, 58051343], [58052875, 58052959], [58054044, 58054149]]
NM_001204911 [[58035276, 58035485], [58036382, 58036549], [58043832, 58044016], [58044921, 58047474]] [[58035387, 58035485], [58036382, 58036549], [58043832, 58044016], [58044921, 58045033]]
NM_001330569 [[58035276, 58035485], [58036382, 58036549], [58043832, 58044016], [58046224, 58047475]] [[58035387, 58035485], [58036382, 58036549], [58043832, 58044016], [58046224, 58046267]]
NM_001195302 [[58035276, 58035485], [58036382, 58036549], [58043832, 58044016], [58051237, 58051343], [58052875, 58052959], [58054044, 58055527]] [[58035387, 58035485], [58036382, 58036549], [58043832, 58044016], [58051237, 58051343], [58052875, 58052959], [58054044, 58054149]]
NM_024598 [[58035276, 58035485], [58036382, 58036549], [58043832, 58044016], [58048176, 58048230], [58051237, 58051343], [58052875, 58052959], [58054044, 58055527]] [[58035387, 58035485], [58036382, 58036549], [58043832, 58044016], [58048176, 58048230], [58051237, 58051343], [58052875, 58052959], [58054044, 58054149]]
Promoter
Chrom Start End Description
chr16 58035303 58035361 CAGE_peak_1_at_C16orf57_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr16 GH16I057998 57998091 58002336 2 [{'connected_gene': 'USB1', 'score': 550.77}, {'connected_gene': 'ZNF319', 'score': 550.77}, {'connected_gene': 'TEPP', 'score': 19.85}]
chr16 GH16I057482 57482163 57487479 2.22 [{'connected_gene': 'DOK4', 'score': 563.38}, {'connected_gene': 'CIAPIN1', 'score': 21.15}, {'connected_gene': 'COQ9', 'score': 20.29}, {'connected_gene': 'LOC105371286', 'score': 13.11}, {'connected_gene': 'POLR2C', 'score': 12.07}, {'connected_gene': 'CX3CL1', 'score': 10.1}, {'connected_gene': 'CCL22', 'score': 10.09}, {'connected_gene': 'USB1', 'score': 6.55}, {'connected_gene': 'PIR51542', 'score': 0.37}]
chr16 GH16I058011 58011155 58012781 0.31 [{'connected_gene': 'TEPP', 'score': 19.07}, {'connected_gene': 'USB1', 'score': 0.39}, {'connected_gene': 'ZNF319', 'score': 0.39}, {'connected_gene': 'MMP15', 'score': 0.39}]
chr16 GH16I058005 58005201 58005597 0.68 [{'connected_gene': 'TEPP', 'score': 15.9}, {'connected_gene': 'ZNF319', 'score': 0.77}, {'connected_gene': 'USB1', 'score': 0.44}, {'connected_gene': 'MMP15', 'score': 0.37}]
chr16 GH16I058009 58009834 58010721 0.2 [{'connected_gene': 'TEPP', 'score': 16.71}, {'connected_gene': 'ZNF319', 'score': 0.44}, {'connected_gene': 'USB1', 'score': 0.39}, {'connected_gene': 'MMP15', 'score': 0.37}]
chr16 GH16I058020 58020257 58021373 1.16 [{'connected_gene': 'CNOT1', 'score': 58.47}, {'connected_gene': 'RSPRY1', 'score': 43.75}, {'connected_gene': 'POLR2C', 'score': 29.21}, {'connected_gene': 'CSNK2A2', 'score': 21.71}, {'connected_gene': 'TEPP', 'score': 17.18}, {'connected_gene': 'CCDC102A', 'score': 14.02}, {'connected_gene': 'CNGB1', 'score': 10.94}, {'connected_gene': 'MMP15', 'score': 0.77}, {'connected_gene': 'ZNF319', 'score': 0.34}, {'connected_gene': 'USB1', 'score': 0.34}]
chr16 GH16I057666 57666434 57670400 2.03 [{'connected_gene': 'ADGRG3', 'score': 627.6}, {'connected_gene': 'DRC7', 'score': 14.7}, {'connected_gene': 'RSPRY1', 'score': 14.47}, {'connected_gene': 'ZNF319', 'score': 13.97}, {'connected_gene': 'SETD6', 'score': 11.73}, {'connected_gene': 'ENSG00000261114', 'score': 5.44}, {'connected_gene': 'ENSG00000260467', 'score': 4.85}, {'connected_gene': 'FAM192A', 'score': 2.51}, {'connected_gene': 'USB1', 'score': 1.52}]