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
ENST00000261267 [[69742120, 69742324], [69743887, 69744052], [69745999, 69746078], [69746932, 69748014]] [[69742188, 69742324], [69743887, 69744052], [69745999, 69746078], [69746932, 69746999]]
ENST00000549690 [[69742163, 69742324], [69743887, 69744052], [69746932, 69747275]] [[69742188, 69742324], [69743887, 69744052], [69746932, 69747045]]
ENST00000548839 [[69742165, 69742324], [69743887, 69744286]] [[69742188, 69742324], [69743887, 69744066]]
NM_000239 [[69742133, 69742324], [69743887, 69744052], [69745999, 69746078], [69746932, 69748013]] [[69742188, 69742324], [69743887, 69744052], [69745999, 69746078], [69746932, 69746999]]
Promoter
Chrom Start End Description
chr12 69742152 69742171 CAGE_peak_1_at_LYZ_5end
chr12 69746926 69746936 CAGE_peak_8_at_LYZ_5end
chr12 69746937 69747004 CAGE_peak_4_at_LYZ_5end
chr12 69747008 69747026 CAGE_peak_7_at_LYZ_5end
chr12 69747028 69747035 CAGE_peak_9_at_LYZ_5end
chr12 69747041 69747093 CAGE_peak_5_at_LYZ_5end
chr12 69747096 69747192 CAGE_peak_2_at_LYZ_5end
chr12 69747193 69747262 CAGE_peak_3_at_LYZ_5end
chr12 69747538 69747621 CAGE_peak_6_at_LYZ_5end
chr12 69747643 69747652 CAGE_peak_10_at_LYZ_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr12 GH12I069358 69358888 69361115 2.09 [{'connected_gene': 'YEATS4', 'score': 592.52}, {'connected_gene': 'LYZ', 'score': 52.25}, {'connected_gene': 'NUP107', 'score': 39.1}, {'connected_gene': 'CNOT2', 'score': 21.32}, {'connected_gene': 'KRT8P39', 'score': 19.69}, {'connected_gene': 'RAP1B', 'score': 13.28}, {'connected_gene': 'RPL10P12', 'score': 12.26}, {'connected_gene': 'CPSF6', 'score': 11.13}, {'connected_gene': 'RN7SL804P', 'score': 0.26}]
chr12 GH12I069284 69284000 69284600 1.33 [{'connected_gene': 'C1GALT1P1', 'score': 550.77}, {'connected_gene': 'GC12P069282', 'score': 550.77}, {'connected_gene': 'LYZ', 'score': 11.94}, {'connected_gene': 'GC12P069299', 'score': 0.37}]
chr12 GH12I069337 69337002 69339218 1.45 [{'connected_gene': 'LYZ', 'score': 61.36}, {'connected_gene': 'YEATS4', 'score': 12.93}, {'connected_gene': 'CPM', 'score': 3.29}, {'connected_gene': 'ENSG00000274979', 'score': 0.44}]
chr12 GH12I069350 69350801 69351800 0.72 [{'connected_gene': 'LYZ', 'score': 12.05}, {'connected_gene': 'YEATS4', 'score': 9.54}, {'connected_gene': 'ENSG00000257764', 'score': 0.77}]
chr12 GH12I069351 69350001 69350600 0.66 [{'connected_gene': 'LYZ', 'score': 550.77}, {'connected_gene': 'YEATS4', 'score': 16.5}, {'connected_gene': 'ENSG00000257764', 'score': 0.77}]
chr12 GH12I069340 69340401 69344200 1.34 [{'connected_gene': 'LYZ', 'score': 57.35}, {'connected_gene': 'YEATS4', 'score': 12.97}, {'connected_gene': 'ENSG00000274979', 'score': 0.39}]
chr12 GH12I069348 69348200 69349475 2.11 [{'connected_gene': 'LYZ', 'score': 571.56}, {'connected_gene': 'YEATS4', 'score': 16.46}, {'connected_gene': 'ENSG00000257764', 'score': 0.44}]
chr12 GH12I069291 69291035 69291600 1.02 [{'connected_gene': 'LYZ', 'score': 11.63}, {'connected_gene': 'C1GALT1P1', 'score': 0.44}, {'connected_gene': 'GC12P069299', 'score': 0.44}]
chr12 GH12I069068 69068350 69068950 1.02 [{'connected_gene': 'LYZ', 'score': 5.8}, {'connected_gene': 'RAP1B', 'score': 3.96}, {'connected_gene': 'CPM', 'score': 2.27}, {'connected_gene': 'GC12M069009', 'score': 0.22}, {'connected_gene': 'GC12M069139', 'score': 0.19}]
chr12 GH12I069039 69039800 69040310 0.87 [{'connected_gene': 'LYZ', 'score': 9.95}, {'connected_gene': 'RAP1B', 'score': 7.52}, {'connected_gene': 'CPM', 'score': 4.34}, {'connected_gene': 'GC12M069009', 'score': 0.29}, {'connected_gene': 'GC12M069139', 'score': 0.15}]
chr12 GH12I069066 69066524 69066787 0.45 [{'connected_gene': 'LYZ', 'score': 4.07}, {'connected_gene': 'RAP1B', 'score': 2.66}, {'connected_gene': 'CPM', 'score': 1.69}, {'connected_gene': 'GC12M069009', 'score': 0.22}, {'connected_gene': 'GC12M069139', 'score': 0.19}]
chr12 GH12I069390 69390001 69390110 0.31 [{'connected_gene': 'LYZ', 'score': 11.15}, {'connected_gene': 'FRS2', 'score': 10.39}, {'connected_gene': 'RN7SL804P', 'score': 0.39}, {'connected_gene': 'YEATS4', 'score': 0.29}]
chr12 GH12I069404 69404130 69406882 0.88 [{'connected_gene': 'LYZ', 'score': 15.05}, {'connected_gene': 'FRS2', 'score': 10.74}, {'connected_gene': 'CCT2', 'score': 10.04}, {'connected_gene': 'YEATS4', 'score': 6.15}, {'connected_gene': 'RN7SL804P', 'score': 0.77}, {'connected_gene': 'RPS26P45', 'score': 0.37}]
chr12 GH12I069345 69345841 69346010 0.94 [{'connected_gene': 'LYZ', 'score': 0.77}, {'connected_gene': 'ENSG00000274979', 'score': 0.39}]
chr12 GH12I069685 69685524 69690997 1.56 [{'connected_gene': 'BEST3', 'score': 571.61}, {'connected_gene': 'RAB3IP', 'score': 21.1}, {'connected_gene': 'LOC101928002', 'score': 11.35}, {'connected_gene': 'LYZ', 'score': 9.84}, {'connected_gene': 'MDM2', 'score': 4.27}, {'connected_gene': 'ENSG00000279551', 'score': 0.31}]
chr12 GH12I068961 68961777 68964758 1.46 [{'connected_gene': 'CPM', 'score': 601.96}, {'connected_gene': 'RAP1B', 'score': 6.62}, {'connected_gene': 'LYZ', 'score': 4.72}, {'connected_gene': 'PRELID2P1', 'score': 0.44}]
chr12 GH12I069055 69055704 69056088 0.61 [{'connected_gene': 'CPM', 'score': 57.35}, {'connected_gene': 'RAP1B', 'score': 6.94}, {'connected_gene': 'LYZ', 'score': 5.47}, {'connected_gene': 'GC12M069009', 'score': 0.25}, {'connected_gene': 'GC12M069139', 'score': 0.18}]
chr12 GH12I069052 69052025 69054139 1.28 [{'connected_gene': 'CPM', 'score': 18.92}, {'connected_gene': 'RAP1B', 'score': 5.03}, {'connected_gene': 'LYZ', 'score': 2.97}, {'connected_gene': 'GC12M069009', 'score': 0.26}, {'connected_gene': 'GC12M069139', 'score': 0.17}]
chr12 GH12I069253 69253621 69255463 0.69 [{'connected_gene': 'CPSF6', 'score': 15.78}, {'connected_gene': 'CNOT2', 'score': 15.29}, {'connected_gene': 'NUP107', 'score': 15.27}, {'connected_gene': 'KRT8P39', 'score': 11.78}, {'connected_gene': 'MDM2', 'score': 11.02}, {'connected_gene': 'LYZ', 'score': 10.93}, {'connected_gene': 'RPL10P12', 'score': 10.7}, {'connected_gene': 'GC12P069269', 'score': 0.37}]
chr12 GH12I069238 69238484 69241576 2.3 [{'connected_gene': 'CPSF6', 'score': 559.71}, {'connected_gene': 'LYZ', 'score': 23.47}, {'connected_gene': 'RAP1B', 'score': 13.28}, {'connected_gene': 'NUP107', 'score': 10.24}, {'connected_gene': 'MDM2', 'score': 8.14}, {'connected_gene': 'YEATS4', 'score': 8.13}, {'connected_gene': 'FRS2', 'score': 7.94}, {'connected_gene': 'CCT2', 'score': 6.82}, {'connected_gene': 'SLC35E3', 'score': 3.65}, {'connected_gene': 'RAB3IP', 'score': 3.6}, {'connected_gene': 'GC12P069269', 'score': 0.31}]
chr12 GH12I069427 69427645 69430192 0.38 [{'connected_gene': 'FRS2', 'score': 11.15}, {'connected_gene': 'LYZ', 'score': 10.41}, {'connected_gene': 'YEATS4', 'score': 5.79}, {'connected_gene': 'GC12P069426', 'score': 0.77}, {'connected_gene': 'LINC02373', 'score': 0.77}]
chr12 GH12I069526 69526959 69529328 0.79 [{'connected_gene': 'FRS2', 'score': 18.68}, {'connected_gene': 'LYZ', 'score': 10.79}, {'connected_gene': 'CCT2', 'score': 5.2}, {'connected_gene': 'YEATS4', 'score': 4.8}, {'connected_gene': 'GC12P069484', 'score': 0.26}, {'connected_gene': 'GC12P069483', 'score': 0.26}, {'connected_gene': 'MIR3913-2', 'score': 0.22}]
chr12 GH12I069568 69568857 69571310 0.88 [{'connected_gene': 'FRS2', 'score': 18.1}, {'connected_gene': 'LYZ', 'score': 10.66}, {'connected_gene': 'MIR3913-2', 'score': 0.39}, {'connected_gene': 'GC12P069484', 'score': 0.17}, {'connected_gene': 'GC12P069483', 'score': 0.17}]
chr12 GH12I069469 69469780 69471919 2.05 [{'connected_gene': 'FRS2', 'score': 557.94}, {'connected_gene': 'CCT2', 'score': 10.12}, {'connected_gene': 'LYZ', 'score': 9.86}, {'connected_gene': 'GC12P069484', 'score': 0.39}, {'connected_gene': 'GC12P069483', 'score': 0.39}]
chr12 GH12I069474 69474420 69476417 1.17 [{'connected_gene': 'CCT2', 'score': 16.73}, {'connected_gene': 'FRS2', 'score': 12.88}, {'connected_gene': 'LYZ', 'score': 9.86}, {'connected_gene': 'CPSF6', 'score': 6.87}, {'connected_gene': 'YEATS4', 'score': 6.67}, {'connected_gene': 'RAB3IP', 'score': 1.55}, {'connected_gene': 'GC12P069484', 'score': 0.44}, {'connected_gene': 'GC12P069483', 'score': 0.44}]
chr12 GH12I069619 69619509 69619530 0.23 [{'connected_gene': 'CCT2', 'score': 20.04}, {'connected_gene': 'FRS2', 'score': 19.78}, {'connected_gene': 'CPSF6', 'score': 19.26}, {'connected_gene': 'YEATS4', 'score': 18.54}, {'connected_gene': 'LYZ', 'score': 10.65}, {'connected_gene': 'RAB3IP', 'score': 2.06}, {'connected_gene': 'LOC105369823', 'score': 0.77}, {'connected_gene': 'LRRC10', 'score': 0.44}]
chr12 GH12I069584 69584769 69586522 2.08 [{'connected_gene': 'CCT2', 'score': 555.47}, {'connected_gene': 'MIR3913-1', 'score': 550.77}, {'connected_gene': 'MIR3913-2', 'score': 550.77}, {'connected_gene': 'FRS2', 'score': 17.32}, {'connected_gene': 'RAP1B', 'score': 13.28}, {'connected_gene': 'NUP107', 'score': 10.24}, {'connected_gene': 'LYZ', 'score': 10.13}, {'connected_gene': 'LRRC10', 'score': 0.31}]
chr12 GH12I069624 69624161 69624310 0.97 [{'connected_gene': 'LOC105369823', 'score': 550.77}, {'connected_gene': 'LYZ', 'score': 10.34}, {'connected_gene': 'LRRC10', 'score': 0.39}]
chr12 GH12I069059 69059078 69060361 1.18 [{'connected_gene': 'RNU7-4P', 'score': 10.57}, {'connected_gene': 'CPM', 'score': 9.0}, {'connected_gene': 'LYZ', 'score': 7.01}, {'connected_gene': 'RAP1B', 'score': 6.36}, {'connected_gene': 'GC12M069009', 'score': 0.23}, {'connected_gene': 'GC12M069139', 'score': 0.18}]
chr12 GH12I068911 68911854 68911922 0.44 [{'connected_gene': 'RNU7-4P', 'score': 550.77}, {'connected_gene': 'ENSG00000257289', 'score': 550.77}, {'connected_gene': 'GC12P068912', 'score': 550.77}, {'connected_gene': 'CPM', 'score': 3.27}, {'connected_gene': 'LYZ', 'score': 2.28}, {'connected_gene': 'RAP1B', 'score': 1.94}, {'connected_gene': 'ENSG00000257181', 'score': 0.2}]
chr12 GH12I069328 69328449 69334568 2.01 [{'connected_gene': 'ENSG00000274979', 'score': 550.77}, {'connected_gene': 'LYZ', 'score': 40.75}, {'connected_gene': 'NUP107', 'score': 19.98}, {'connected_gene': 'YEATS4', 'score': 19.57}, {'connected_gene': 'CNOT2', 'score': 16.33}, {'connected_gene': 'CPSF6', 'score': 14.5}, {'connected_gene': 'KRT8P39', 'score': 11.09}, {'connected_gene': 'CPM', 'score': 1.89}, {'connected_gene': 'GC12M069304', 'score': 0.34}]
chr12 GH12I069352 69352201 69352400 0.51 [{'connected_gene': 'ENSG00000257764', 'score': 550.77}, {'connected_gene': 'LYZ', 'score': 0.77}]
chr12 GH12I069006 69006235 69009579 1.32 [{'connected_gene': 'GC12M069009', 'score': 550.77}, {'connected_gene': 'CPM', 'score': 37.58}, {'connected_gene': 'RAP1B', 'score': 11.78}, {'connected_gene': 'LYZ', 'score': 8.74}, {'connected_gene': 'CPSF6', 'score': 4.08}, {'connected_gene': 'MDM2', 'score': 4.07}, {'connected_gene': 'FRS2', 'score': 3.93}, {'connected_gene': 'YEATS4', 'score': 3.65}, {'connected_gene': 'SLC35E3', 'score': 3.13}, {'connected_gene': 'NUP107', 'score': 2.54}]