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
ENST00000247843 [[69753482, 69753803], [69756567, 69756687], [69759412, 69759479], [69759569, 69759664], [69764485, 69764578], [69764667, 69764755], [69783926, 69784576]] [[69753752, 69753803], [69756567, 69756687], [69759412, 69759479], [69759569, 69759664], [69764485, 69764578], [69764667, 69764755], [69783926, 69784096]]
ENST00000548020 [[69753489, 69753803], [69756567, 69756687], [69764485, 69764578], [69764667, 69764755], [69783926, 69784411]] [[69753752, 69753803], [69756567, 69756687], [69764485, 69764578], [69764667, 69764755], [69783926, 69784096]]
ENST00000549685 [[69753499, 69753803], [69755096, 69755213], [69756567, 69756687], [69759412, 69759479], [69759569, 69759664], [69764485, 69764578], [69764667, 69764755]] [[69759415, 69759479], [69759569, 69759664], [69764485, 69764578], [69764667, 69764755]]
ENST00000552949 [[69753535, 69753803], [69756567, 69756727]] None
ENST00000552955 [[69753558, 69753803], [69756567, 69756687], [69757956, 69758079], [69759412, 69759479], [69759569, 69759664], [69764485, 69764578], [69764667, 69764751]] [[69753752, 69753803], [69756567, 69756687], [69757956, 69758079], [69759412, 69759479], [69759569, 69759664], [69764485, 69764578], [69764667, 69764751]]
NM_001300950 [[69753489, 69753803], [69756567, 69756687], [69764485, 69764578], [69764667, 69764755], [69783926, 69784650]] [[69753752, 69753803], [69756567, 69756687], [69764485, 69764578], [69764667, 69764755], [69783926, 69784096]]
NM_006530 [[69753489, 69753803], [69756567, 69756687], [69759412, 69759479], [69759569, 69759664], [69764485, 69764578], [69764667, 69764755], [69783926, 69784650]] [[69753752, 69753803], [69756567, 69756687], [69759412, 69759479], [69759569, 69759664], [69764485, 69764578], [69764667, 69764755], [69783926, 69784096]]
Promoter
Chrom Start End Description
chr12 69753448 69753577 CAGE_peak_1_at_YEATS4_5end
chr12 69753583 69753598 CAGE_peak_2_at_YEATS4_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 GH12I069415 69415188 69416976 1.09 [{'connected_gene': 'YEATS4', 'score': 7.62}, {'connected_gene': 'RPS26P45', 'score': 0.44}, {'connected_gene': 'RN7SL804P', 'score': 0.37}]
chr12 GH12I069357 69357402 69358000 1.21 [{'connected_gene': 'YEATS4', 'score': 591.3}, {'connected_gene': 'ENSG00000257764', 'score': 0.77}]
chr12 GH12I068983 68983074 68983262 0.22 [{'connected_gene': 'MDM2', 'score': 37.01}, {'connected_gene': 'FRS2', 'score': 36.02}, {'connected_gene': 'CPSF6', 'score': 35.69}, {'connected_gene': 'YEATS4', 'score': 35.49}, {'connected_gene': 'NUP107', 'score': 17.28}, {'connected_gene': 'SLC35E3', 'score': 7.48}, {'connected_gene': 'CPM', 'score': 1.81}, {'connected_gene': 'GC12M069009', 'score': 0.31}]
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 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 GH12I069533 69533538 69536599 1 [{'connected_gene': 'CPSF6', 'score': 18.19}, {'connected_gene': 'NUP107', 'score': 16.98}, {'connected_gene': 'CNOT2', 'score': 12.76}, {'connected_gene': 'KRT8P39', 'score': 12.01}, {'connected_gene': 'YEATS4', 'score': 10.14}, {'connected_gene': 'FRS2', 'score': 7.33}, {'connected_gene': 'MIR3913-2', 'score': 0.25}, {'connected_gene': 'GC12P069484', 'score': 0.23}, {'connected_gene': 'GC12P069483', 'score': 0.23}]
chr12 GH12I069023 69023790 69025746 1.16 [{'connected_gene': 'CPSF6', 'score': 21.54}, {'connected_gene': 'MDM2', 'score': 20.87}, {'connected_gene': 'YEATS4', 'score': 20.28}, {'connected_gene': 'FRS2', 'score': 20.03}, {'connected_gene': 'NUP107', 'score': 12.2}, {'connected_gene': 'SLC35E3', 'score': 6.8}, {'connected_gene': 'GC12M069009', 'score': 0.37}, {'connected_gene': 'GC12M069139', 'score': 0.13}]
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 GH12I069445 69445834 69446044 0.22 [{'connected_gene': 'FRS2', 'score': 3.61}, {'connected_gene': 'CPSF6', 'score': 3.17}, {'connected_gene': 'CCT2', 'score': 3.14}, {'connected_gene': 'YEATS4', 'score': 3.12}, {'connected_gene': 'LINC02373', '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 GH12I069417 69417389 69417402 0.2 [{'connected_gene': 'RPS26P45', 'score': 0.44}, {'connected_gene': 'RN7SL804P', 'score': 0.37}, {'connected_gene': 'YEATS4', 'score': 0.22}]
chr12 GH12I068951 68951294 68952654 1.15 [{'connected_gene': 'RNU7-4P', 'score': 11.35}, {'connected_gene': 'CPSF6', 'score': 7.51}, {'connected_gene': 'CPM', 'score': 4.36}, {'connected_gene': 'MDM2', 'score': 3.92}, {'connected_gene': 'YEATS4', 'score': 3.78}, {'connected_gene': 'NUP107', 'score': 2.55}, {'connected_gene': 'SLC35E3', 'score': 1.59}, {'connected_gene': 'PRELID2P1', 'score': 0.44}, {'connected_gene': 'ENSG00000257289', 'score': 0.28}]
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 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}]
chr12 GH12I069354 69354701 69354850 1.05 [{'connected_gene': 'ENSG00000257764', 'score': 550.77}, {'connected_gene': 'FRS2', 'score': 9.95}, {'connected_gene': 'YEATS4', 'score': 9.88}]