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
ENST00000327761 [[50367218, 50368158], [50368764, 50368880], [50368989, 50369287], [50369480, 50369585], [50374603, 50374895]] [[50368011, 50368158], [50368764, 50368880], [50368989, 50369287], [50369480, 50369585], [50374603, 50374750]]
ENST00000395126 [[50367218, 50368158], [50368764, 50368880], [50368989, 50369287], [50369480, 50369585], [50375335, 50375442], [50375573, 50375664]] [[50368011, 50368158], [50368764, 50368880], [50368989, 50369287], [50369480, 50369489]]
ENST00000357043 [[50367218, 50368158], [50368764, 50368880], [50368989, 50369287], [50369480, 50369585], [50375335, 50375454], [50377986, 50378272]] [[50368011, 50368158], [50368764, 50368880], [50368989, 50369287], [50369480, 50369585], [50375335, 50375454], [50377986, 50378236]]
ENST00000395117 [[50367218, 50368158], [50368764, 50368880], [50368989, 50369287], [50369480, 50369585], [50377986, 50378272]] [[50369556, 50369585], [50377986, 50378236]]
ENST00000359365 [[50367218, 50368158], [50368764, 50368880], [50368989, 50369287], [50369480, 50369585], [50375335, 50375442], [50377986, 50378343]] [[50368011, 50368158], [50368764, 50368880], [50368989, 50369287], [50369480, 50369585], [50375335, 50375442], [50377986, 50378236]]
ENST00000482447 [[50367218, 50368158], [50368764, 50368880], [50368989, 50369287], [50377986, 50378343]] [[50369078, 50369287], [50377986, 50378236]]
ENST00000478619 [[50373807, 50375442], [50377986, 50378411]] None
ENST00000488024 [[50374000, 50375003], [50375335, 50375442], [50377986, 50378261]] None
ENST00000494145 [[50374230, 50375442], [50375573, 50375719]] None
NM_170713 [[50367216, 50368158], [50368764, 50368880], [50368989, 50369287], [50369480, 50369585], [50374603, 50374895]] [[50368011, 50368158], [50368764, 50368880], [50368989, 50369287], [50369480, 50369585], [50374603, 50374750]]
NM_170712 [[50367216, 50368158], [50368764, 50368880], [50368989, 50369287], [50369480, 50369585], [50375335, 50375442], [50375573, 50375664]] [[50368011, 50368158], [50368764, 50368880], [50368989, 50369287], [50369480, 50369489]]
NM_170714 [[50367216, 50368158], [50368764, 50368880], [50368989, 50369287], [50369480, 50369585], [50375335, 50375454], [50377986, 50378367]] [[50368011, 50368158], [50368764, 50368880], [50368989, 50369287], [50369480, 50369585], [50375335, 50375454], [50377986, 50378236]]
NM_007182 [[50367216, 50368158], [50368764, 50368880], [50368989, 50369287], [50369480, 50369585], [50375335, 50375442], [50377986, 50378367]] [[50368011, 50368158], [50368764, 50368880], [50368989, 50369287], [50369480, 50369585], [50375335, 50375442], [50377986, 50378236]]
NM_001206957 [[50367216, 50368158], [50368764, 50368880], [50368989, 50369287], [50369480, 50369585], [50377986, 50378367]] [[50368011, 50368158], [50368764, 50368880], [50368989, 50369287], [50369480, 50369489]]
Promoter
Chrom Start End Description
chr3 50374715 50374736 CAGE_peak_4_at_RASSF1_5end
chr3 50374779 50374859 CAGE_peak_1_at_RASSF1_5end
chr3 50374869 50374888 CAGE_peak_3_at_RASSF1_5end
chr3 50375560 50375605 CAGE_peak_8_at_RASSF1_5end
chr3 50375611 50375623 CAGE_peak_14_at_RASSF1_5end
chr3 50375627 50375653 CAGE_peak_9_at_RASSF1_5end
chr3 50375657 50375693 CAGE_peak_6_at_RASSF1_5end
chr3 50375705 50375724 CAGE_peak_15_at_RASSF1_5end
chr3 50378210 50378220 CAGE_peak_12_at_RASSF1_5end
chr3 50378235 50378286 CAGE_peak_2_at_RASSF1_5end
chr3 50378363 50378383 CAGE_peak_10_at_RASSF1_5end
chr3 50378388 50378410 CAGE_peak_5_at_RASSF1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I050472 50472821 50473892 0.55 [{'connected_gene': 'CACNA2D2', 'score': 12.38}, {'connected_gene': 'CYB561D2', 'score': 6.44}, {'connected_gene': 'RASSF1', 'score': 3.19}, {'connected_gene': 'LOC105377082', 'score': 0.37}]
chr3 GH03I050319 50319945 50325161 2.26 [{'connected_gene': 'HYAL2', 'score': 550.77}, {'connected_gene': 'RBM6', 'score': 50.38}, {'connected_gene': 'RBM5', 'score': 34.56}, {'connected_gene': 'AMT', 'score': 33.95}, {'connected_gene': 'SEMA3F-AS1', 'score': 25.23}, {'connected_gene': 'TMEM115', 'score': 24.59}, {'connected_gene': 'HYAL3', 'score': 20.46}, {'connected_gene': 'RHOA-IT1', 'score': 14.58}, {'connected_gene': 'RASSF1', 'score': 10.2}, {'connected_gene': 'HEMK1', 'score': 9.78}, {'connected_gene': 'HYAL1', 'score': 8.33}, {'connected_gene': 'CYB561D2', 'score': 6.55}, {'connected_gene': 'GC03M050319', 'score': 0.77}, {'connected_gene': 'GC03M050318', 'score': 0.77}, {'connected_gene': 'TUSC2', 'score': 0.44}]
chr3 GH03I049790 49790188 49790417 0.72 [{'connected_gene': 'LAMB2', 'score': 19.02}, {'connected_gene': 'TMEM115', 'score': 15.11}, {'connected_gene': 'QRICH1', 'score': 15.09}, {'connected_gene': 'CCDC71', 'score': 14.13}, {'connected_gene': 'RHOA-IT1', 'score': 13.8}, {'connected_gene': 'RBM6', 'score': 12.55}, {'connected_gene': 'RASSF1', 'score': 12.15}, {'connected_gene': 'QARS', 'score': 11.21}, {'connected_gene': 'USP19', 'score': 11.18}, {'connected_gene': 'UBA7', 'score': 10.59}, {'connected_gene': 'RBM5', 'score': 10.29}, {'connected_gene': 'HEMK1', 'score': 9.85}, {'connected_gene': 'ENSG00000225399', 'score': 9.66}, {'connected_gene': 'IP6K1', 'score': 0.77}, {'connected_gene': 'CDHR4', 'score': 0.39}, {'connected_gene': 'GC03P049762', 'score': 0.31}, {'connected_gene': 'GC03P049763', 'score': 0.31}, {'connected_gene': 'GC03P049421', 'score': 0.05}]
chr3 GH03I050616 50616000 50633999 2.7 [{'connected_gene': 'MAPKAPK3', 'score': 566.78}, {'connected_gene': 'DOCK3', 'score': 23.56}, {'connected_gene': 'HEMK1', 'score': 21.59}, {'connected_gene': 'C3orf18', 'score': 12.32}, {'connected_gene': 'MANF', 'score': 10.68}, {'connected_gene': 'GNAI2', 'score': 6.5}, {'connected_gene': 'LSMEM2', 'score': 5.74}, {'connected_gene': 'HYAL1', 'score': 3.89}, {'connected_gene': 'RASSF1', 'score': 3.77}, {'connected_gene': 'CYB561D2', 'score': 1.38}, {'connected_gene': 'CISH', 'score': 0.39}, {'connected_gene': 'LINC02019', 'score': 0.26}]
chr3 GH03I050446 50446906 50448115 0.84 [{'connected_gene': 'HEMK1', 'score': 10.61}, {'connected_gene': 'MAPKAPK3', 'score': 4.09}, {'connected_gene': 'RASSF1', 'score': 2.43}, {'connected_gene': 'GNAI2', 'score': 1.74}, {'connected_gene': 'CYB561D2', 'score': 1.39}, {'connected_gene': 'LOC105377082', 'score': 0.44}, {'connected_gene': 'RNA5SP131', 'score': 0.31}, {'connected_gene': 'CACNA2D2', 'score': 0.22}]
chr3 GH03I050566 50566925 50576881 2.8 [{'connected_gene': 'HEMK1', 'score': 562.7}, {'connected_gene': 'C3orf18', 'score': 553.38}, {'connected_gene': 'CISH', 'score': 38.49}, {'connected_gene': 'RBM5', 'score': 31.53}, {'connected_gene': 'RBM6', 'score': 27.82}, {'connected_gene': 'RAD54L2', 'score': 25.2}, {'connected_gene': 'SEMA3F-AS1', 'score': 23.06}, {'connected_gene': 'MAPKAPK3', 'score': 14.17}, {'connected_gene': 'DOCK3', 'score': 11.02}, {'connected_gene': 'TMEM115', 'score': 10.62}, {'connected_gene': 'DCAF1', 'score': 9.94}, {'connected_gene': 'RASSF1', 'score': 4.27}, {'connected_gene': 'LINC02019', 'score': 3.84}, {'connected_gene': 'NPRL2', 'score': 2.53}, {'connected_gene': 'CYB561D2', 'score': 1.85}]
chr3 GH03I049356 49356166 49360407 2.22 [{'connected_gene': 'GPX1', 'score': 550.77}, {'connected_gene': 'GC03M049358', 'score': 550.77}, {'connected_gene': 'GC03M049359', 'score': 550.77}, {'connected_gene': 'AMT', 'score': 44.92}, {'connected_gene': 'QRICH1', 'score': 23.62}, {'connected_gene': 'RBM5', 'score': 20.29}, {'connected_gene': 'RBM6', 'score': 19.63}, {'connected_gene': 'SEMA3F-AS1', 'score': 17.68}, {'connected_gene': 'RHOA-IT1', 'score': 15.9}, {'connected_gene': 'USP19', 'score': 15.43}, {'connected_gene': 'RASSF1', 'score': 13.78}, {'connected_gene': 'ATRIP', 'score': 13.35}, {'connected_gene': 'TMEM89', 'score': 13.11}, {'connected_gene': 'FAM212A', 'score': 11.91}, {'connected_gene': 'CCDC71', 'score': 11.8}, {'connected_gene': 'IP6K2', 'score': 10.79}, {'connected_gene': 'QARS', 'score': 10.78}, {'connected_gene': 'ENSG00000235236', 'score': 9.9}, {'connected_gene': 'WDR6', 'score': 9.85}, {'connected_gene': 'HYAL3', 'score': 4.82}, {'connected_gene': 'RHOA', 'score': 0.23}]
chr3 GH03I050234 50234631 50255880 2.78 [{'connected_gene': 'GNAI2', 'score': 569.2}, {'connected_gene': 'HYAL3', 'score': 35.42}, {'connected_gene': 'RBM5', 'score': 27.81}, {'connected_gene': 'SEMA3F-AS1', 'score': 26.99}, {'connected_gene': 'RBM6', 'score': 23.84}, {'connected_gene': 'HYAL1', 'score': 17.03}, {'connected_gene': 'CYB561D2', 'score': 15.14}, {'connected_gene': 'RHOA-IT1', 'score': 14.23}, {'connected_gene': 'AMT', 'score': 14.19}, {'connected_gene': 'HEMK1', 'score': 14.15}, {'connected_gene': 'TMEM115', 'score': 13.49}, {'connected_gene': 'SEMA3B-AS1', 'score': 13.32}, {'connected_gene': 'SEMA3B', 'score': 13.32}, {'connected_gene': 'LSMEM2', 'score': 13.27}, {'connected_gene': 'NAT6', 'score': 12.99}, {'connected_gene': 'RASSF1', 'score': 12.62}, {'connected_gene': 'IFRD2', 'score': 12.32}, {'connected_gene': 'SEMA3F', 'score': 11.68}, {'connected_gene': 'UBA7', 'score': 10.27}, {'connected_gene': 'IP6K1', 'score': 8.84}, {'connected_gene': 'DOCK3', 'score': 5.02}, {'connected_gene': 'ENSG00000230454', 'score': 4.17}, {'connected_gene': 'MAPKAPK3', 'score': 4.06}, {'connected_gene': 'ENSG00000213600', 'score': 0.44}]
chr3 GH03I050227 50226600 50231400 2.73 [{'connected_gene': 'GNAI2', 'score': 556.1}, {'connected_gene': 'MIR5787', 'score': 550.77}, {'connected_gene': 'HYAL3', 'score': 16.02}, {'connected_gene': 'RBM6', 'score': 15.06}, {'connected_gene': 'SEMA3F-AS1', 'score': 14.66}, {'connected_gene': 'RBM5', 'score': 14.41}, {'connected_gene': 'SEMA3B-AS1', 'score': 12.44}, {'connected_gene': 'SEMA3B', 'score': 12.44}, {'connected_gene': 'LSMEM2', 'score': 12.41}, {'connected_gene': 'TMEM115', 'score': 11.9}, {'connected_gene': 'IFRD2', 'score': 11.41}, {'connected_gene': 'RASSF1', 'score': 9.97}, {'connected_gene': 'HEMK1', 'score': 9.76}, {'connected_gene': 'CYB561D2', 'score': 5.94}, {'connected_gene': 'IP6K1', 'score': 5.2}, {'connected_gene': 'TUSC2', 'score': 1.28}, {'connected_gene': 'ENSG00000213600', 'score': 0.39}]
chr3 GH03I050587 50587521 50593625 1.7 [{'connected_gene': 'RAD54L2', 'score': 13.59}, {'connected_gene': 'DCAF1', 'score': 13.43}, {'connected_gene': 'HEMK1', 'score': 10.94}, {'connected_gene': 'TMEM115', 'score': 10.25}, {'connected_gene': 'RBM6', 'score': 9.77}, {'connected_gene': 'RASSF1', 'score': 7.74}, {'connected_gene': 'MAPKAPK3', 'score': 4.56}, {'connected_gene': 'HYAL1', 'score': 4.33}, {'connected_gene': 'DOCK3', 'score': 3.86}, {'connected_gene': 'CISH', 'score': 3.47}, {'connected_gene': 'RBM5', 'score': 2.13}, {'connected_gene': 'CACNA2D2', 'score': 1.62}, {'connected_gene': 'GC03P050587', 'score': 0.77}, {'connected_gene': 'PIR50420', 'score': 0.77}, {'connected_gene': 'ENSG00000280382', 'score': 0.39}]
chr3 GH03I050449 50449319 50451603 1 [{'connected_gene': 'DOCK3', 'score': 11.21}, {'connected_gene': 'RASSF1', 'score': 7.98}, {'connected_gene': 'HEMK1', 'score': 7.19}, {'connected_gene': 'GNAI2', 'score': 4.85}, {'connected_gene': 'CYB561D2', 'score': 4.77}, {'connected_gene': 'RBM5', 'score': 4.72}, {'connected_gene': 'MAPKAPK3', 'score': 4.4}, {'connected_gene': 'CACNA2D2', 'score': 1.92}, {'connected_gene': 'LOC105377082', 'score': 0.77}, {'connected_gene': 'RNA5SP131', 'score': 0.29}]
chr3 GH03I050598 50598964 50614009 3.21 [{'connected_gene': 'CISH', 'score': 557.82}, {'connected_gene': 'MAPKAPK3', 'score': 554.96}, {'connected_gene': 'HEMK1', 'score': 34.01}, {'connected_gene': 'RBM5', 'score': 31.64}, {'connected_gene': 'RBM6', 'score': 31.48}, {'connected_gene': 'TMEM115', 'score': 23.58}, {'connected_gene': 'RAD54L2', 'score': 22.02}, {'connected_gene': 'SEMA3F-AS1', 'score': 15.35}, {'connected_gene': 'C3orf18', 'score': 14.08}, {'connected_gene': 'DOCK3', 'score': 11.29}, {'connected_gene': 'RASSF1', 'score': 10.86}, {'connected_gene': 'MANF', 'score': 10.68}, {'connected_gene': 'UBA7', 'score': 10.65}, {'connected_gene': 'NAT6', 'score': 10.24}, {'connected_gene': 'TRAIP', 'score': 9.95}, {'connected_gene': 'HYAL1', 'score': 3.89}, {'connected_gene': 'ENSG00000230454', 'score': 3.87}, {'connected_gene': 'ENSG00000280382', 'score': 0.44}]
chr3 GH03I050332 50332973 50342370 2.48 [{'connected_gene': 'RASSF1', 'score': 562.92}, {'connected_gene': 'RASSF1-AS1', 'score': 550.77}, {'connected_gene': 'HYAL3', 'score': 39.23}, {'connected_gene': 'CYB561D2', 'score': 21.55}, {'connected_gene': 'RBM6', 'score': 17.0}, {'connected_gene': 'SEMA3F-AS1', 'score': 14.76}, {'connected_gene': 'NICN1', 'score': 14.15}, {'connected_gene': 'RBM5', 'score': 13.8}, {'connected_gene': 'RHOA-IT1', 'score': 13.55}, {'connected_gene': 'TMEM115', 'score': 13.19}, {'connected_gene': 'IFRD2', 'score': 10.98}, {'connected_gene': 'LSMEM2', 'score': 10.94}, {'connected_gene': 'HEMK1', 'score': 9.72}, {'connected_gene': 'HYAL1', 'score': 8.59}, {'connected_gene': 'SEMA3F', 'score': 4.45}, {'connected_gene': 'ENSG00000230454', 'score': 3.99}, {'connected_gene': 'SEMA3B', 'score': 2.05}, {'connected_gene': 'GC03P050334', 'score': 0.77}, {'connected_gene': 'ZMYND10-AS1', 'score': 0.77}, {'connected_gene': 'ZMYND10', 'score': 0.44}]
chr3 GH03I050146 50146166 50148615 0.63 [{'connected_gene': 'RBM6', 'score': 32.04}, {'connected_gene': 'RBM5', 'score': 13.7}, {'connected_gene': 'RASSF1', 'score': 11.56}, {'connected_gene': 'TMEM115', 'score': 11.22}, {'connected_gene': 'RHOA-IT1', 'score': 10.86}, {'connected_gene': 'SEMA3F-AS1', 'score': 10.56}, {'connected_gene': 'CYB561D2', 'score': 9.71}, {'connected_gene': 'UBA7', 'score': 4.21}, {'connected_gene': 'SEMA3F', 'score': 0.44}, {'connected_gene': 'RBM5-AS1', 'score': 0.25}]
chr3 GH03I050342 50342410 50342740 0.4 [{'connected_gene': 'ZMYND10-AS1', 'score': 550.77}, {'connected_gene': 'RASSF1', 'score': 550.77}, {'connected_gene': 'ZMYND10', 'score': 0.77}]
chr3 GH03I049855 49855713 49857275 1.95 [{'connected_gene': 'GC03M049859', 'score': 550.77}, {'connected_gene': 'GC03M049858', 'score': 550.77}, {'connected_gene': 'TRAIP', 'score': 550.77}, {'connected_gene': 'QRICH1', 'score': 43.47}, {'connected_gene': 'USP19', 'score': 38.41}, {'connected_gene': 'CDHR4', 'score': 27.83}, {'connected_gene': 'CCDC36', 'score': 22.08}, {'connected_gene': 'ENSG00000225399', 'score': 21.22}, {'connected_gene': 'SEMA3F-AS1', 'score': 14.73}, {'connected_gene': 'RBM6', 'score': 14.62}, {'connected_gene': 'RBM5', 'score': 13.81}, {'connected_gene': 'RHOA-IT1', 'score': 13.57}, {'connected_gene': 'TMEM115', 'score': 12.88}, {'connected_gene': 'RASSF1', 'score': 12.34}, {'connected_gene': 'CCDC71', 'score': 12.26}, {'connected_gene': 'QARS', 'score': 10.84}, {'connected_gene': 'IMPDH2', 'score': 10.4}, {'connected_gene': 'ENSG00000235236', 'score': 10.3}, {'connected_gene': 'ARIH2', 'score': 9.99}, {'connected_gene': 'NAT6', 'score': 9.86}, {'connected_gene': 'HEMK1', 'score': 9.68}, {'connected_gene': 'UBA7', 'score': 0.26}, {'connected_gene': 'GC03P049762', 'score': 0.16}, {'connected_gene': 'GC03P049763', 'score': 0.16}, {'connected_gene': 'GC03P049421', 'score': 0.05}]

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