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
ENST00000441371 [[177893090, 177893283], [177893367, 177893458], [177897093, 177897620]] None
ENST00000495165 [[177896700, 177897158], [177897488, 177899064], [177899679, 177899778], [177901624, 177901704], [177901832, 177901941], [177902348, 177902447], [177902618, 177902771], [177905432, 177905501]] None
ENST00000308284 [[177898280, 177899064], [177899679, 177899778], [177901624, 177901704], [177901832, 177901941], [177902348, 177902447], [177902618, 177902771], [177905432, 177905500], [177906348, 177906648], [177908836, 177908912], [177909744, 177909849], [177911034, 177911175], [177913695, 177913801], [177915554, 177915666], [177916959, 177917077], [177921048, 177921130], [177923413, 177923511], [177927266, 177927497], [177927974, 177928110], [177929476, 177929538], [177929925, 177930074], [177930724, 177930869], [177933305, 177933414], [177934181, 177934302], [177935027, 177935140], [177936817, 177937174], [177939018, 177939050]] [[177898992, 177899064], [177899679, 177899778], [177901624, 177901704], [177901832, 177901941], [177902348, 177902447], [177902618, 177902771], [177905432, 177905500], [177906348, 177906648], [177908836, 177908912], [177909744, 177909849], [177911034, 177911175], [177913695, 177913801], [177915554, 177915666], [177916959, 177917077], [177921048, 177921130], [177923413, 177923511], [177927266, 177927497], [177927974, 177928110], [177929476, 177929538], [177929925, 177930074], [177930724, 177930869], [177933305, 177933414], [177934181, 177934302], [177935027, 177935140], [177936817, 177937116]]
ENST00000327037 [[177898969, 177899064], [177899679, 177899778], [177901624, 177901704], [177902348, 177902447], [177902618, 177902771], [177905432, 177905500], [177906348, 177906648], [177908836, 177908912], [177909744, 177909849], [177911034, 177911175], [177913695, 177913801], [177915554, 177915666], [177916959, 177917077], [177917524, 177917779]] None
ENST00000528461 [[177898992, 177899064], [177899679, 177899778], [177901624, 177901704], [177901832, 177901941], [177902348, 177902447], [177902618, 177902771], [177905432, 177905500], [177906348, 177906648], [177908836, 177908912], [177909744, 177909849], [177911034, 177911175], [177913695, 177913801], [177915554, 177915666], [177916959, 177917077], [177921048, 177921130], [177923413, 177923511], [177927266, 177927497], [177927974, 177928110], [177929925, 177930074], [177930724, 177930869], [177933305, 177933414], [177934181, 177934302], [177935027, 177935140], [177936817, 177937174], [177953340, 177953438]] [[177928095, 177928110], [177929925, 177930074], [177930724, 177930869], [177933305, 177933414], [177934181, 177934302], [177935027, 177935140], [177936817, 177937116]]
ENST00000526773 [[177913693, 177913801], [177915554, 177915666], [177916959, 177917077], [177921048, 177921130], [177923413, 177923511], [177927266, 177927554]] None
ENST00000464631 [[177914466, 177915666], [177916959, 177917077], [177921048, 177921130], [177923413, 177923511], [177927266, 177927497], [177927974, 177928110], [177929476, 177929538], [177929925, 177930077], [177930724, 177930869], [177933305, 177933414], [177934181, 177934302], [177935027, 177935140], [177936817, 177937174], [177939324, 177939348]] [[177915454, 177915666], [177916959, 177917077], [177921048, 177921130], [177923413, 177923511], [177927266, 177927497], [177927974, 177928110], [177929476, 177929538], [177929925, 177930077], [177930724, 177930869], [177933305, 177933414], [177934181, 177934302], [177935027, 177935140], [177936817, 177937116]]
ENST00000527976 [[177915554, 177915666], [177916959, 177917077], [177927266, 177927497], [177927974, 177928038]] [[177915554, 177915666], [177916959, 177917077], [177927266, 177927497], [177927974, 177928038]]
NM_033127 [[177898241, 177899064], [177899679, 177899778], [177901624, 177901704], [177901832, 177901941], [177902348, 177902447], [177902618, 177902771], [177905432, 177905500], [177906348, 177906648], [177908836, 177908912], [177909744, 177909849], [177911034, 177911175], [177913695, 177913801], [177915554, 177915666], [177916959, 177917077], [177921048, 177921130], [177923413, 177923511], [177927266, 177927497], [177927974, 177928110], [177929476, 177929538], [177929925, 177930074], [177930724, 177930869], [177933305, 177933414], [177934181, 177934302], [177935027, 177935140], [177936817, 177937174], [177939018, 177939050]] [[177898992, 177899064], [177899679, 177899778], [177901624, 177901704], [177901832, 177901941], [177902348, 177902447], [177902618, 177902771], [177905432, 177905500], [177906348, 177906648], [177908836, 177908912], [177909744, 177909849], [177911034, 177911175], [177913695, 177913801], [177915554, 177915666], [177916959, 177917077], [177921048, 177921130], [177923413, 177923511], [177927266, 177927497], [177927974, 177928110], [177929476, 177929538], [177929925, 177930074], [177930724, 177930869], [177933305, 177933414], [177934181, 177934302], [177935027, 177935140], [177936817, 177937116]]
Promoter
Chrom Start End Description
chr1 177939041 177939053 CAGE_peak_11_at_SEC16B_5end
chr1 177939057 177939069 CAGE_peak_8_at_SEC16B_5end
chr1 177939071 177939080 CAGE_peak_15_at_SEC16B_5end
chr1 177939093 177939102 CAGE_peak_14_at_SEC16B_5end
chr1 177939154 177939204 CAGE_peak_4_at_SEC16B_5end
chr1 177939352 177939395 CAGE_peak_3_at_SEC16B_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I178055 178055002 178059105 1.12 [{'connected_gene': 'RASAL2', 'score': 20.85}, {'connected_gene': 'RASAL2-AS1', 'score': 17.71}, {'connected_gene': 'SEC16B', 'score': 11.83}, {'connected_gene': 'CRYZL2P', 'score': 4.72}, {'connected_gene': 'CRYZL2P-SEC16B', 'score': 0.37}, {'connected_gene': 'GC01M178037', 'score': 0.13}]
chr1 GH01I178072 178072424 178072737 0.22 [{'connected_gene': 'RASAL2', 'score': 20.99}, {'connected_gene': 'RASAL2-AS1', 'score': 16.68}, {'connected_gene': 'CRYZL2P-SEC16B', 'score': 11.38}, {'connected_gene': 'SEC16B', 'score': 11.25}, {'connected_gene': 'CRYZL2P', 'score': 0.29}, {'connected_gene': 'GC01M178037', 'score': 0.14}]
chr1 GH01I177968 177968126 177971233 1.5 [{'connected_gene': 'SEC16B', 'score': 564.02}, {'connected_gene': 'CRYZL2P', 'score': 7.82}, {'connected_gene': 'GC01M177906', 'score': 0.21}, {'connected_gene': 'CRYZL2P-SEC16B', 'score': 0.2}]
chr1 GH01I177974 177974952 177976765 0.49 [{'connected_gene': 'SEC16B', 'score': 9.75}, {'connected_gene': 'CRYZL2P-SEC16B', 'score': 0.21}, {'connected_gene': 'GC01M177906', 'score': 0.2}]
chr1 GH01I177983 177983160 177984915 1.04 [{'connected_gene': 'SEC16B', 'score': 550.77}, {'connected_gene': 'CRYZL2P-SEC16B', 'score': 11.2}, {'connected_gene': 'GC01M177906', 'score': 0.18}]
chr1 GH01I177847 177847542 177849254 0.38 [{'connected_gene': 'SEC16B', 'score': 4.93}, {'connected_gene': 'GC01P177888', 'score': 0.28}, {'connected_gene': 'LINC01741', 'score': 0.11}]
chr1 GH01I177873 177873048 177874015 0.62 [{'connected_gene': 'SEC16B', 'score': 4.51}, {'connected_gene': 'GC01P177888', 'score': 0.39}, {'connected_gene': 'LINC01741', 'score': 0.09}]
chr1 GH01I178010 178010797 178012362 0.6 [{'connected_gene': 'CRYZL2P', 'score': 19.44}, {'connected_gene': 'ENSG00000276563', 'score': 0.44}, {'connected_gene': 'SEC16B', 'score': 0.31}, {'connected_gene': 'CRYZL2P-SEC16B', 'score': 0.31}]
chr1 GH01I177943 177943673 177944639 0.38 [{'connected_gene': 'CRYZL2P', 'score': 4.21}, {'connected_gene': 'GC01M177906', 'score': 0.28}, {'connected_gene': 'SEC16B', 'score': 0.26}, {'connected_gene': 'CRYZL2P-SEC16B', 'score': 0.16}]
chr1 GH01I178004 178004801 178005317 0.83 [{'connected_gene': 'CRYZL2P', 'score': 5.03}, {'connected_gene': 'ENSG00000276563', 'score': 0.39}, {'connected_gene': 'SEC16B', 'score': 0.34}, {'connected_gene': 'CRYZL2P-SEC16B', 'score': 0.29}]
chr1 GH01I177937 177937757 177938487 0.2 [{'connected_gene': 'GC01M177906', 'score': 0.31}, {'connected_gene': 'SEC16B', 'score': 0.25}, {'connected_gene': 'CRYZL2P-SEC16B', 'score': 0.15}]
chr1 GH01I177933 177933936 177934149 0.24 [{'connected_gene': 'GC01M177906', 'score': 0.31}, {'connected_gene': 'SEC16B', 'score': 0.23}, {'connected_gene': 'CRYZL2P-SEC16B', 'score': 0.15}]
chr1 GH01I177924 177924912 177928507 0.93 [{'connected_gene': 'GC01M177906', 'score': 0.37}, {'connected_gene': 'SEC16B', 'score': 0.22}]
chr1 GH01I177913 177913226 177913295 0.62 [{'connected_gene': 'GC01M177906', 'score': 0.77}, {'connected_gene': 'SEC16B', 'score': 0.19}]

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