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
ENST00000426540 [[44596684, 44596973], [44598421, 44598962], [44606978, 44607147], [44609403, 44609495], [44609798, 44609925], [44611413, 44612986]] [[44598539, 44598962], [44606978, 44607147], [44609403, 44609495], [44609798, 44609925], [44611413, 44612867]]
ENST00000431636 [[44596684, 44596973], [44598421, 44598962], [44606978, 44607147], [44609403, 44609495], [44609798, 44609925], [44624463, 44624937]] [[44598539, 44598962], [44606978, 44607147], [44609403, 44609495], [44609798, 44609925], [44624463, 44624483]]
ENST00000341840 [[44596694, 44597010], [44598421, 44598962], [44606978, 44607147], [44609403, 44609495], [44609798, 44609925], [44624463, 44624975]] [[44598539, 44598962], [44606978, 44607147], [44609403, 44609495], [44609798, 44609925], [44624463, 44624483]]
ENST00000273320 [[44596699, 44597010], [44598421, 44598962], [44606978, 44607147], [44609403, 44609495], [44609798, 44609925], [44611413, 44613650]] [[44598539, 44598962], [44606978, 44607147], [44609403, 44609495], [44609798, 44609925], [44611413, 44612867]]
ENST00000418719 [[44596720, 44596973], [44598421, 44598962], [44606978, 44607147], [44609798, 44609925], [44611416, 44611620]] [[44598539, 44598962], [44606978, 44607147], [44609798, 44609815]]
ENST00000447279 [[44596935, 44596973], [44606978, 44607147], [44609403, 44609495], [44609798, 44609925], [44611416, 44612157], [44624463, 44624798]] [[44607005, 44607147], [44609403, 44609495], [44609798, 44609925], [44611416, 44612157], [44624463, 44624483]]
ENST00000496563 [[44598848, 44598962], [44606978, 44607147], [44609403, 44609495], [44609798, 44609969]] None
NM_001288590 [[44596666, 44596973], [44598421, 44598962], [44606978, 44607147], [44609403, 44609495], [44609798, 44609925], [44611413, 44613650]] [[44598539, 44598962], [44606978, 44607147], [44609403, 44609495], [44609798, 44609925], [44611413, 44612867]]
NM_018651 [[44596666, 44597010], [44598421, 44598962], [44606978, 44607147], [44609403, 44609495], [44609798, 44609925], [44611413, 44613650]] [[44598539, 44598962], [44606978, 44607147], [44609403, 44609495], [44609798, 44609925], [44611413, 44612867]]
NM_001288592 [[44596666, 44596973], [44606978, 44607147], [44609403, 44609495], [44609798, 44609925], [44611416, 44612157], [44624463, 44624956]] [[44607005, 44607147], [44609403, 44609495], [44609798, 44609925], [44611416, 44612157], [44624463, 44624483]]
NM_001288591 [[44596666, 44596973], [44598421, 44598962], [44606978, 44607147], [44609403, 44609495], [44609798, 44609925], [44624463, 44624956]] [[44598539, 44598962], [44606978, 44607147], [44609403, 44609495], [44609798, 44609925], [44624463, 44624483]]
NM_025169 [[44596666, 44597010], [44598421, 44598962], [44606978, 44607147], [44609403, 44609495], [44609798, 44609925], [44624463, 44624956]] [[44598539, 44598962], [44606978, 44607147], [44609403, 44609495], [44609798, 44609925], [44624463, 44624483]]
Promoter
Chrom Start End Description
chr3 44596664 44596672 CAGE_peak_2_at_ZNF167_5end
chr3 44596679 44596726 CAGE_peak_1_at_ZNF167_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I044611 44611083 44611373 0.24 [{'connected_gene': 'KIAA1143', 'score': 13.67}, {'connected_gene': 'ZNF197', 'score': 3.77}, {'connected_gene': 'ZNF660', 'score': 3.1}, {'connected_gene': 'ZKSCAN7', 'score': 2.34}, {'connected_gene': 'ZNF445', 'score': 1.85}, {'connected_gene': 'ZNF502', 'score': 1.81}, {'connected_gene': 'ZNF501', 'score': 1.64}, {'connected_gene': 'PIR39553', 'score': 0.39}, {'connected_gene': 'ENSG00000236869', 'score': 0.19}]
chr3 GH03I044558 44558259 44558636 0.33 [{'connected_gene': 'ZKSCAN7', 'score': 2.21}, {'connected_gene': 'PIR39053', 'score': 0.77}, {'connected_gene': 'PIRC13', 'score': 0.77}, {'connected_gene': 'ENSG00000236869', 'score': 0.13}]
chr3 GH03I044233 44233079 44238725 1.17 [{'connected_gene': 'ZNF660', 'score': 39.63}, {'connected_gene': 'ZNF502', 'score': 20.16}, {'connected_gene': 'ZNF197', 'score': 19.44}, {'connected_gene': 'ZKSCAN7', 'score': 12.54}, {'connected_gene': 'ZNF445', 'score': 11.38}, {'connected_gene': 'ZNF852', 'score': 10.59}, {'connected_gene': 'RNU6-367P', 'score': 9.97}, {'connected_gene': 'ZNF35', 'score': 9.79}, {'connected_gene': 'SNRK-AS1', 'score': 9.72}, {'connected_gene': 'MIR138-1', 'score': 9.49}, {'connected_gene': 'TCAIM', 'score': 7.76}, {'connected_gene': 'ENSG00000271941', 'score': 5.94}, {'connected_gene': 'TOPAZ1', 'score': 0.44}, {'connected_gene': 'PIR53341', 'score': 0.13}]
chr3 GH03I044882 44882710 44887950 1.5 [{'connected_gene': 'ZNF660', 'score': 28.46}, {'connected_gene': 'ZKSCAN7', 'score': 10.2}, {'connected_gene': 'KIAA1143', 'score': 8.7}, {'connected_gene': 'TGM4', 'score': 6.76}, {'connected_gene': 'ZNF501', 'score': 4.57}, {'connected_gene': 'ZNF197', 'score': 4.35}, {'connected_gene': 'ENSG00000235845', 'score': 0.39}]
chr3 GH03I044613 44613081 44613382 0.24 [{'connected_gene': 'ZNF660', 'score': 3.95}, {'connected_gene': 'ZNF445', 'score': 3.39}, {'connected_gene': 'ZKSCAN7', 'score': 2.85}, {'connected_gene': 'ZNF197', 'score': 2.56}, {'connected_gene': 'ZNF501', 'score': 1.76}, {'connected_gene': 'PIR39553', 'score': 0.44}, {'connected_gene': 'ENSG00000236869', 'score': 0.19}]
chr3 GH03I044341 44341787 44343000 0.58 [{'connected_gene': 'ZNF660', 'score': 42.5}, {'connected_gene': 'ZNF852', 'score': 10.52}, {'connected_gene': 'ZNF445', 'score': 10.11}, {'connected_gene': 'ZKSCAN7', 'score': 9.36}, {'connected_gene': 'ZNF197', 'score': 8.43}, {'connected_gene': 'TCAIM', 'score': 0.77}, {'connected_gene': 'LOC105377055', 'score': 0.77}, {'connected_gene': 'LINC01988', 'score': 0.18}]
chr3 GH03I045177 45177990 45179030 0.93 [{'connected_gene': 'ZNF660', 'score': 18.84}, {'connected_gene': 'ZNF197', 'score': 15.48}, {'connected_gene': 'ZNF502', 'score': 14.09}, {'connected_gene': 'ENSG00000272077', 'score': 13.18}, {'connected_gene': 'SACM1L', 'score': 11.26}, {'connected_gene': 'ZKSCAN7', 'score': 11.11}, {'connected_gene': 'LZTFL1', 'score': 11.09}, {'connected_gene': 'ZNF197-AS1', 'score': 11.01}, {'connected_gene': 'ZNF501', 'score': 11.0}, {'connected_gene': 'CDCP1', 'score': 5.69}, {'connected_gene': 'SLC6A20', 'score': 4.54}, {'connected_gene': 'RPS24P8', 'score': 0.37}, {'connected_gene': 'LOC101928636', 'score': 0.34}]
chr3 GH03I044974 44974043 44977602 2.21 [{'connected_gene': 'EXOSC7', 'score': 566.38}, {'connected_gene': 'ZDHHC3', 'score': 554.91}, {'connected_gene': 'ZNF445', 'score': 16.55}, {'connected_gene': 'RN7SL145P', 'score': 14.75}, {'connected_gene': 'CLEC3B', 'score': 11.34}, {'connected_gene': 'ZNF502', 'score': 11.08}, {'connected_gene': 'ZKSCAN7', 'score': 10.78}, {'connected_gene': 'ZNF852', 'score': 10.5}, {'connected_gene': 'RNU5B-3P', 'score': 9.69}, {'connected_gene': 'KIAA1143', 'score': 9.3}, {'connected_gene': 'ZNF197', 'score': 6.24}]
chr3 GH03I044584 44584128 44585846 1.71 [{'connected_gene': 'ZNF197', 'score': 564.51}, {'connected_gene': 'ZNF660', 'score': 550.44}, {'connected_gene': 'ZNF197-AS1', 'score': 10.93}, {'connected_gene': 'ZKSCAN7', 'score': 10.75}, {'connected_gene': 'ZNF501', 'score': 10.62}, {'connected_gene': 'ZNF35', 'score': 10.23}, {'connected_gene': 'PIR39553', 'score': 0.28}, {'connected_gene': 'ENSG00000236869', 'score': 0.15}]
chr3 GH03I044532 44532929 44533078 0.99 [{'connected_gene': 'ZNF197', 'score': 24.83}, {'connected_gene': 'ZNF852', 'score': 12.13}, {'connected_gene': 'ZKSCAN7', 'score': 11.23}, {'connected_gene': 'ENSG00000235845', 'score': 10.51}, {'connected_gene': 'TGM4', 'score': 10.51}, {'connected_gene': 'ZNF445', 'score': 10.46}, {'connected_gene': 'ZNF660', 'score': 10.35}, {'connected_gene': 'ZNF501', 'score': 10.05}, {'connected_gene': 'CLEC3B', 'score': 9.82}, {'connected_gene': 'RNU5B-3P', 'score': 9.81}, {'connected_gene': 'ZNF35', 'score': 9.64}, {'connected_gene': 'KIAA1143', 'score': 6.39}, {'connected_gene': 'LOC100419748', 'score': 0.77}]
chr3 GH03I044602 44602478 44602731 0.22 [{'connected_gene': 'ZNF197-AS1', 'score': 11.74}, {'connected_gene': 'ZNF445', 'score': 11.57}, {'connected_gene': 'ZKSCAN7', 'score': 10.52}, {'connected_gene': 'ZNF501', 'score': 9.77}, {'connected_gene': 'ZNF660', 'score': 2.28}, {'connected_gene': 'ZNF35', 'score': 2.14}, {'connected_gene': 'ZNF197', 'score': 1.54}, {'connected_gene': 'PIR39553', 'score': 0.37}, {'connected_gene': 'ENSG00000236869', 'score': 0.18}]
chr3 GH03I044914 44914009 44914158 0.69 [{'connected_gene': 'PIR39185', 'score': 550.77}, {'connected_gene': 'TGM4', 'score': 11.63}, {'connected_gene': 'CLEC3B', 'score': 10.23}, {'connected_gene': 'EXOSC7', 'score': 10.02}, {'connected_gene': 'ZKSCAN7', 'score': 9.73}, {'connected_gene': 'ENSG00000235845', 'score': 0.39}]
chr3 GH03I044554 44554601 44556400 1.75 [{'connected_gene': 'PIR39053', 'score': 550.77}, {'connected_gene': 'ZKSCAN7', 'score': 550.77}, {'connected_gene': 'ZNF197', 'score': 13.81}, {'connected_gene': 'PIRC13', 'score': 0.44}]
chr3 GH03I044685 44685000 44686200 1.26 [{'connected_gene': 'ENSG00000236869', 'score': 550.77}, {'connected_gene': 'LOC101928592', 'score': 550.77}, {'connected_gene': 'ZNF197', 'score': 24.18}, {'connected_gene': 'ZNF35', 'score': 21.76}, {'connected_gene': 'KIAA1143', 'score': 15.25}, {'connected_gene': 'ZNF852', 'score': 13.11}, {'connected_gene': 'KIF15', 'score': 11.25}, {'connected_gene': 'ZNF501', 'score': 11.14}, {'connected_gene': 'ZNF660', 'score': 10.61}, {'connected_gene': 'ZNF502', 'score': 10.19}, {'connected_gene': 'ZKSCAN7', 'score': 10.17}, {'connected_gene': 'ZDHHC3', 'score': 10.09}, {'connected_gene': 'ZNF445', 'score': 8.93}, {'connected_gene': 'PIR62310', 'score': 0.77}]
chr3 GH03I044682 44682137 44683500 0.2 [{'connected_gene': 'PIR62310', 'score': 550.77}, {'connected_gene': 'ZNF197', 'score': 15.2}, {'connected_gene': 'ZNF501', 'score': 11.21}, {'connected_gene': 'ZNF660', 'score': 11.08}, {'connected_gene': 'ZNF35', 'score': 11.01}, {'connected_gene': 'ZKSCAN7', 'score': 10.07}, {'connected_gene': 'ENSG00000236869', 'score': 0.77}, {'connected_gene': 'LOC101928592', 'score': 0.77}, {'connected_gene': 'LOC100419752', 'score': 0.44}]
chr3 GH03I044580 44580801 44581400 0.5 [{'connected_gene': 'GC03P044592', 'score': 550.77}, {'connected_gene': 'GC03P044586', 'score': 550.77}, {'connected_gene': 'PIR31475', 'score': 550.77}, {'connected_gene': 'PIR35983', 'score': 550.77}, {'connected_gene': 'GC03P044594', 'score': 550.77}, {'connected_gene': 'GC03P044593', 'score': 550.77}, {'connected_gene': 'PIR40699', 'score': 550.77}, {'connected_gene': 'PIR56267', 'score': 550.77}, {'connected_gene': 'PIR46880', 'score': 550.77}, {'connected_gene': 'PIR58340', 'score': 550.77}, {'connected_gene': 'PIR49343', 'score': 550.77}, {'connected_gene': 'GC03P044591', 'score': 550.77}, {'connected_gene': 'PIR48028', 'score': 550.77}, {'connected_gene': 'PIR36215', 'score': 550.77}, {'connected_gene': 'PIR40120', 'score': 550.77}, {'connected_gene': 'GC03P044583', 'score': 550.77}, {'connected_gene': 'PIR55374', 'score': 550.77}, {'connected_gene': 'GC03P044588', 'score': 550.77}, {'connected_gene': 'GC03M044582', 'score': 550.77}, {'connected_gene': 'GC03P044584', 'score': 550.77}, {'connected_gene': 'PIR31304', 'score': 550.77}, {'connected_gene': 'MPRIPP1', 'score': 550.77}, {'connected_gene': 'PIR32911', 'score': 550.77}, {'connected_gene': 'GC03P044582', 'score': 550.77}, {'connected_gene': 'PIR34851', 'score': 550.77}, {'connected_gene': 'GC03P044580', 'score': 550.77}, {'connected_gene': 'GC03P044598', 'score': 550.77}, {'connected_gene': 'GC03P044581', 'score': 550.77}, {'connected_gene': 'ZNF197', 'score': 20.33}, {'connected_gene': 'ZNF660', 'score': 0.77}, {'connected_gene': 'PIRC13', 'score': 0.34}, {'connected_gene': 'ZKSCAN7', 'score': 0.31}, {'connected_gene': 'ENSG00000236869', 'score': 0.15}]