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
ENST00000345317 [[26706680, 26709275], [26709709, 26709811], [26724354, 26724467], [26729903, 26729981], [26765046, 26765184], [26765541, 26765605], [26766500, 26766625], [26778413, 26778497], [26779505, 26779583], [26883648, 26883756], [26893755, 26893781], [26894403, 26894509], [26903981, 26904362]] [[26709718, 26709811], [26724354, 26724467], [26729903, 26729981], [26765046, 26765184], [26765541, 26765605], [26766500, 26766625], [26778413, 26778497], [26779505, 26779583], [26883648, 26883756], [26893755, 26893781], [26894403, 26894509], [26903981, 26904048]]
ENST00000539623 [[26709047, 26709275], [26709709, 26709811], [26724354, 26724467], [26729903, 26729981], [26765046, 26765184], [26765541, 26765605], [26766500, 26766625], [26778413, 26778497], [26779505, 26779583], [26883648, 26883756], [26893755, 26893781], [26894403, 26894509], [26897069, 26897239]] [[26709718, 26709811], [26724354, 26724467], [26729903, 26729981], [26765046, 26765184], [26765541, 26765605], [26766500, 26766578]]
ENST00000489977 [[26729925, 26729981], [26765046, 26765184], [26765541, 26765605], [26766500, 26766625], [26778413, 26778497], [26779505, 26779583], [26781960, 26782094]] None
ENST00000468712 [[26766300, 26766625], [26778413, 26778497], [26779505, 26779583], [26883648, 26883756], [26893755, 26893781], [26894403, 26894509], [26897069, 26897297]] None
ENST00000495802 [[26766507, 26766625], [26778413, 26778497], [26779505, 26779583], [26883648, 26883756], [26893755, 26893781], [26894403, 26894509], [26894736, 26894770]] None
ENST00000432747 [[26778458, 26778497], [26779505, 26779583], [26883648, 26883756], [26893755, 26893781], [26894403, 26894509], [26933457, 26933592], [27034773, 27034858]] [[26778458, 26778497], [26779505, 26779583], [26883648, 26883756], [26893755, 26893781], [26894403, 26894509], [26933457, 26933479]]
ENST00000490456 [[26779505, 26779583], [26883648, 26883756], [26893755, 26893781], [26894403, 26894509], [26897538, 26897778]] None
ENST00000497511 [[26786185, 26786305], [26883648, 26883756], [26893755, 26893781], [26894403, 26894509], [26903981, 26904206]] None
ENST00000481204 [[26883647, 26883756], [26893755, 26893781], [26894403, 26894509], [26904460, 26904732]] None
ENST00000487720 [[26883648, 26883756], [26887614, 26887687], [26893755, 26893781], [26894403, 26894509], [26903981, 26904204]] None
NM_001303468 [[26706680, 26709275], [26709709, 26709811], [26724354, 26724467], [26729903, 26729981], [26765046, 26765184], [26765541, 26765605], [26766500, 26766625], [26778413, 26778497], [26779505, 26779583], [26883648, 26883756], [26893755, 26893781], [26894403, 26894509], [26897069, 26897342]] [[26709718, 26709811], [26724354, 26724467], [26729903, 26729981], [26765046, 26765184], [26765541, 26765605], [26766500, 26766578]]
NM_003930 [[26706680, 26709275], [26709709, 26709811], [26724354, 26724467], [26729903, 26729981], [26765046, 26765184], [26765541, 26765605], [26766500, 26766625], [26778413, 26778497], [26779505, 26779583], [26883648, 26883756], [26893755, 26893781], [26894403, 26894509], [26903981, 26904362]] [[26709718, 26709811], [26724354, 26724467], [26729903, 26729981], [26765046, 26765184], [26765541, 26765605], [26766500, 26766625], [26778413, 26778497], [26779505, 26779583], [26883648, 26883756], [26893755, 26893781], [26894403, 26894509], [26903981, 26904048]]
Promoter
Chrom Start End Description
chr7 26904057 26904063 CAGE_peak_8_at_SKAP2_5end
chr7 26904073 26904080 CAGE_peak_6_at_SKAP2_5end
chr7 26904144 26904155 CAGE_peak_5_at_SKAP2_5end
chr7 26904174 26904185 CAGE_peak_3_at_SKAP2_5end
chr7 26904187 26904225 CAGE_peak_1_at_SKAP2_5end
chr7 26904228 26904247 CAGE_peak_2_at_SKAP2_5end
chr7 26904248 26904262 CAGE_peak_4_at_SKAP2_5end
chr7 26904264 26904275 CAGE_peak_7_at_SKAP2_5end
chr7 26904317 26904329 CAGE_peak_9_at_SKAP2_5end
chr7 26904725 26904738 CAGE_peak_10_at_SKAP2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr7 GH07I026964 26964401 26964600 0.43 [{'connected_gene': 'SKAP2', 'score': 10.78}, {'connected_gene': 'HOXA2', 'score': 10.03}, {'connected_gene': 'HOXA-AS2', 'score': 10.02}, {'connected_gene': 'HOXA3', 'score': 10.0}, {'connected_gene': 'HOTAIRM1', 'score': 9.81}, {'connected_gene': 'HOXA1', 'score': 9.81}, {'connected_gene': 'GC07M026956', 'score': 0.39}, {'connected_gene': 'GC07M026955', 'score': 0.39}, {'connected_gene': 'GC07P026980', 'score': 0.37}]
chr7 GH07I026704 26704462 26706260 0.63 [{'connected_gene': 'SKAP2', 'score': 20.02}, {'connected_gene': 'HOXA2', 'score': 10.28}, {'connected_gene': 'HOXA-AS2', 'score': 10.28}, {'connected_gene': 'HOXA3', 'score': 10.28}, {'connected_gene': 'GC07P026673', 'score': 0.29}, {'connected_gene': 'GC07M026718', 'score': 0.28}, {'connected_gene': 'GC07P026242', 'score': 0.04}]
chr7 GH07I026603 26603742 26603891 0.59 [{'connected_gene': 'SKAP2', 'score': 4.26}, {'connected_gene': 'LOC101928077', 'score': 0.37}, {'connected_gene': 'LOC100506289', 'score': 0.23}, {'connected_gene': 'GC07P026242', 'score': 0.05}]
chr7 GH07I026595 26594281 26594619 0.4 [{'connected_gene': 'SKAP2', 'score': 4.33}, {'connected_gene': 'LOC101928077', 'score': 0.31}, {'connected_gene': 'LOC100506289', 'score': 0.26}, {'connected_gene': 'GC07P026242', 'score': 0.05}]
chr7 GH07I026918 26918060 26919011 0.2 [{'connected_gene': 'SKAP2', 'score': 13.35}, {'connected_gene': 'HOTAIRM1', 'score': 10.72}, {'connected_gene': 'HOXA1', 'score': 10.72}, {'connected_gene': 'HOXA2', 'score': 10.72}, {'connected_gene': 'RPL7AP38', 'score': 0.77}, {'connected_gene': 'GC07P026846', 'score': 0.18}]
chr7 GH07I026947 26947284 26949966 0.76 [{'connected_gene': 'SKAP2', 'score': 23.39}, {'connected_gene': 'HOTAIRM1', 'score': 11.21}, {'connected_gene': 'HOXA1', 'score': 11.21}, {'connected_gene': 'HOXA2', 'score': 10.84}, {'connected_gene': 'HOXA-AS2', 'score': 10.57}, {'connected_gene': 'HOXA3', 'score': 10.55}, {'connected_gene': 'GC07M026956', 'score': 0.44}, {'connected_gene': 'GC07M026955', 'score': 0.44}, {'connected_gene': 'RPL7AP38', 'score': 0.31}]
chr7 GH07I026735 26735990 26736566 0.38 [{'connected_gene': 'SKAP2', 'score': 17.35}, {'connected_gene': 'HOTAIRM1', 'score': 16.84}, {'connected_gene': 'HOXA1', 'score': 9.64}, {'connected_gene': 'C7orf71', 'score': 9.52}, {'connected_gene': 'SNX10', 'score': 5.5}, {'connected_gene': 'GC07M026718', 'score': 0.44}, {'connected_gene': 'GC07P026673', 'score': 0.21}, {'connected_gene': 'GC07P026242', 'score': 0.04}]
chr7 GH07I026862 26862557 26865671 2.28 [{'connected_gene': 'SKAP2', 'score': 558.35}, {'connected_gene': 'HOTAIRM1', 'score': 22.1}, {'connected_gene': 'HNRNPA2B1', 'score': 12.66}, {'connected_gene': 'HOXA-AS3', 'score': 11.82}, {'connected_gene': 'HOXA4', 'score': 11.82}, {'connected_gene': 'HOXA6', 'score': 11.82}, {'connected_gene': 'HOXA3', 'score': 11.82}, {'connected_gene': 'HOXA5', 'score': 11.82}, {'connected_gene': 'HOXA1', 'score': 11.49}, {'connected_gene': 'HOXA2', 'score': 11.1}, {'connected_gene': 'HOXA9', 'score': 10.74}, {'connected_gene': 'HOXA10-AS', 'score': 10.74}, {'connected_gene': 'HOXA-AS2', 'score': 10.57}, {'connected_gene': 'KIAA0087', 'score': 9.85}, {'connected_gene': 'SNX10', 'score': 5.33}, {'connected_gene': 'GC07P026846', 'score': 0.34}, {'connected_gene': 'RPL7AP38', 'score': 0.22}]
chr7 GH07I026657 26657800 26658871 0.87 [{'connected_gene': 'SKAP2', 'score': 6.4}, {'connected_gene': 'GC07M026655', 'score': 0.77}, {'connected_gene': 'GC07P026673', 'score': 0.39}, {'connected_gene': 'GC07P026242', 'score': 0.05}]
chr7 GH07I026690 26690543 26690671 0.31 [{'connected_gene': 'SKAP2', 'score': 6.18}, {'connected_gene': 'GC07P026673', 'score': 0.37}, {'connected_gene': 'GC07M026718', 'score': 0.23}, {'connected_gene': 'GC07P026242', 'score': 0.05}]
chr7 GH07I026688 26687849 26690183 1.95 [{'connected_gene': 'SKAP2', 'score': 6.46}, {'connected_gene': 'GC07P026673', 'score': 0.37}, {'connected_gene': 'GC07M026718', 'score': 0.23}, {'connected_gene': 'GC07P026242', 'score': 0.05}]
chr7 GH07I026667 26667401 26668000 1.07 [{'connected_gene': 'SKAP2', 'score': 6.69}, {'connected_gene': 'GC07P026673', 'score': 0.44}, {'connected_gene': 'GC07M026655', 'score': 0.39}, {'connected_gene': 'GC07P026242', 'score': 0.04}]
chr7 GH07I026685 26685246 26687397 1.06 [{'connected_gene': 'SKAP2', 'score': 20.01}, {'connected_gene': 'GC07P026673', 'score': 0.39}, {'connected_gene': 'GC07M026718', 'score': 0.22}, {'connected_gene': 'GC07P026242', 'score': 0.04}]
chr7 GH07I027046 27046735 27047820 0.66 [{'connected_gene': 'NHP2P2', 'score': 550.77}, {'connected_gene': 'HOTAIRM1', 'score': 26.64}, {'connected_gene': 'HOXA1', 'score': 11.22}, {'connected_gene': 'HOXA2', 'score': 11.2}, {'connected_gene': 'HOXA-AS2', 'score': 11.03}, {'connected_gene': 'HOXA3', 'score': 10.96}, {'connected_gene': 'SKAP2', 'score': 10.66}, {'connected_gene': 'TPM3P4', 'score': 0.34}]
chr7 GH07I026853 26853902 26854051 0.77 [{'connected_gene': 'HOXA5', 'score': 18.37}, {'connected_gene': 'HOXA-AS3', 'score': 11.99}, {'connected_gene': 'HOXA4', 'score': 11.99}, {'connected_gene': 'HOXA6', 'score': 11.99}, {'connected_gene': 'HOXA3', 'score': 11.99}, {'connected_gene': 'HOTAIRM1', 'score': 11.69}, {'connected_gene': 'HOXA1', 'score': 11.69}, {'connected_gene': 'GC07P026846', 'score': 0.39}, {'connected_gene': 'RPL7AP38', 'score': 0.2}, {'connected_gene': 'SKAP2', 'score': 0.11}]
chr7 GH07I027095 27095069 27181321 3.41 [{'connected_gene': 'HOXA2', 'score': 576.17}, {'connected_gene': 'HOXA9', 'score': 568.02}, {'connected_gene': 'HOXA10', 'score': 565.55}, {'connected_gene': 'HOXA1', 'score': 562.16}, {'connected_gene': 'HOXA3', 'score': 560.98}, {'connected_gene': 'HOXA6', 'score': 557.72}, {'connected_gene': 'HOXA4', 'score': 553.76}, {'connected_gene': 'HOXA5', 'score': 553.17}, {'connected_gene': 'HOXA7', 'score': 552.7}, {'connected_gene': 'HNRNPA2B1', 'score': 58.04}, {'connected_gene': 'HOTAIRM1', 'score': 43.49}, {'connected_gene': 'HOXA10-AS', 'score': 27.61}, {'connected_gene': 'HOXA-AS2', 'score': 21.16}, {'connected_gene': 'CBX3', 'score': 19.35}, {'connected_gene': 'HOXA11-AS', 'score': 15.79}, {'connected_gene': 'HOXA11', 'score': 14.27}, {'connected_gene': 'SKAP2', 'score': 13.15}, {'connected_gene': 'HOXA13', 'score': 12.76}, {'connected_gene': 'ENSG00000253508', 'score': 11.26}, {'connected_gene': 'HOTTIP', 'score': 11.25}, {'connected_gene': 'LOC105375304', 'score': 10.2}, {'connected_gene': 'KIAA0087', 'score': 9.83}, {'connected_gene': 'HOXA-AS3', 'score': 0.44}, {'connected_gene': 'ENSG00000272801', 'score': 0.39}, {'connected_gene': 'ENSG00000273433', 'score': 0.39}, {'connected_gene': 'LOC105375205', 'score': 0.34}, {'connected_gene': 'ENSG00000270182', 'score': 0.34}, {'connected_gene': 'GC07P027116', 'score': 0.34}, {'connected_gene': 'GC07M027172', 'score': 0.29}, {'connected_gene': 'MIR196B', 'score': 0.29}, {'connected_gene': 'ENSG00000277694', 'score': 0.28}, {'connected_gene': 'ENSG00000274396', 'score': 0.28}, {'connected_gene': 'ENSG00000274864', 'score': 0.28}, {'connected_gene': 'ENSG00000276771', 'score': 0.28}, {'connected_gene': 'ENSG00000257184', 'score': 0.26}, {'connected_gene': 'HOXA10-HOXA9', 'score': 0.26}, {'connected_gene': 'ENSG00000276528', 'score': 0.26}]
chr7 GH07I026813 26813526 26813881 0.66 [{'connected_gene': 'HOXA2', 'score': 10.46}, {'connected_gene': 'HOXA-AS2', 'score': 10.46}, {'connected_gene': 'HOXA3', 'score': 10.46}, {'connected_gene': 'HOTAIRM1', 'score': 10.16}, {'connected_gene': 'HOXA1', 'score': 10.16}, {'connected_gene': 'HOXA5', 'score': 6.44}, {'connected_gene': 'GC07P026846', 'score': 0.31}, {'connected_gene': 'GC07M026718', 'score': 0.2}, {'connected_gene': 'SKAP2', 'score': 0.09}, {'connected_gene': 'GC07P026242', 'score': 0.03}]
chr7 GH07I026909 26909372 26910786 0.92 [{'connected_gene': 'HOTAIRM1', 'score': 17.72}, {'connected_gene': 'SKAP2', 'score': 13.3}, {'connected_gene': 'HOXA2', 'score': 10.08}, {'connected_gene': 'HOXA-AS2', 'score': 10.08}, {'connected_gene': 'HOXA3', 'score': 10.06}, {'connected_gene': 'RPL7AP38', 'score': 0.39}, {'connected_gene': 'GC07P026846', 'score': 0.2}]
chr7 GH07I027080 27080822 27081671 0.54 [{'connected_gene': 'HOTAIRM1', 'score': 16.04}, {'connected_gene': 'SKAP2', 'score': 12.02}, {'connected_gene': 'HOXA2', 'score': 11.98}, {'connected_gene': 'HOXA-AS2', 'score': 11.96}, {'connected_gene': 'HOXA3', 'score': 11.84}, {'connected_gene': 'NHP2P2', 'score': 0.29}]
chr7 GH07I027030 27030496 27032539 0.86 [{'connected_gene': 'HOTAIRM1', 'score': 54.94}, {'connected_gene': 'SKAP2', 'score': 23.51}, {'connected_gene': 'HOXA1', 'score': 11.35}, {'connected_gene': 'HOXA2', 'score': 10.97}, {'connected_gene': 'HOXA-AS2', 'score': 10.42}, {'connected_gene': 'HOXA3', 'score': 10.37}, {'connected_gene': 'TPM3P4', 'score': 0.44}, {'connected_gene': 'NHP2P2', 'score': 0.37}]
chr7 GH07I026776 26776102 26776408 0.23 [{'connected_gene': 'HOTAIRM1', 'score': 16.63}, {'connected_gene': 'SKAP2', 'score': 10.27}, {'connected_gene': 'SNX10', 'score': 7.08}, {'connected_gene': 'GC07M026718', 'score': 0.29}, {'connected_gene': 'GC07P026846', 'score': 0.2}, {'connected_gene': 'GC07P026242', 'score': 0.03}]
chr7 GH07I026726 26726181 26726449 0.4 [{'connected_gene': 'HOTAIRM1', 'score': 7.06}, {'connected_gene': 'GC07M026718', 'score': 0.37}, {'connected_gene': 'GC07P026673', 'score': 0.23}, {'connected_gene': 'SKAP2', 'score': 0.06}, {'connected_gene': 'GC07P026242', 'score': 0.04}]
chr7 GH07I026958 26958352 26959781 0.56 [{'connected_gene': 'HOTAIRM1', 'score': 14.77}, {'connected_gene': 'GC07M026956', 'score': 0.77}, {'connected_gene': 'GC07M026955', 'score': 0.77}, {'connected_gene': 'GC07P026980', 'score': 0.34}, {'connected_gene': 'SKAP2', 'score': 0.28}]
chr7 GH07I026784 26784282 26784411 0.2 [{'connected_gene': 'HOTAIRM1', 'score': 21.46}, {'connected_gene': 'GC07M026718', 'score': 0.26}, {'connected_gene': 'GC07P026846', 'score': 0.22}, {'connected_gene': 'SKAP2', 'score': 0.08}, {'connected_gene': 'GC07P026242', 'score': 0.03}]
chr7 GH07I026855 26855142 26859953 1.26 [{'connected_gene': 'HOTAIRM1', 'score': 36.78}, {'connected_gene': 'HOXA5', 'score': 18.57}, {'connected_gene': 'HOXA-AS3', 'score': 12.19}, {'connected_gene': 'HOXA4', 'score': 12.19}, {'connected_gene': 'HOXA3', 'score': 12.19}, {'connected_gene': 'HOXA6', 'score': 12.19}, {'connected_gene': 'HOXA1', 'score': 11.69}, {'connected_gene': 'HOXA2', 'score': 11.69}, {'connected_gene': 'HOXA-AS2', 'score': 11.16}, {'connected_gene': 'SKAP2', 'score': 6.46}, {'connected_gene': 'GC07P026846', 'score': 0.39}, {'connected_gene': 'RPL7AP38', 'score': 0.21}]
chr7 GH07I026868 26868391 26869801 0.58 [{'connected_gene': 'HOTAIRM1', 'score': 30.51}, {'connected_gene': 'HOXA2', 'score': 10.44}, {'connected_gene': 'SNX10', 'score': 5.39}, {'connected_gene': 'GC07P026846', 'score': 0.31}, {'connected_gene': 'RPL7AP38', 'score': 0.23}, {'connected_gene': 'SKAP2', 'score': 0.13}]
chr7 GH07I026694 26694262 26694411 0.2 [{'connected_gene': 'HOTAIRM1', 'score': 9.87}, {'connected_gene': 'HOXA1', 'score': 9.87}, {'connected_gene': 'GC07P026673', 'score': 0.34}, {'connected_gene': 'GC07M026718', 'score': 0.25}, {'connected_gene': 'SKAP2', 'score': 0.06}, {'connected_gene': 'GC07P026242', 'score': 0.05}]
chr7 GH07I027066 27066282 27066431 0.67 [{'connected_gene': 'HOTAIRM1', 'score': 12.07}, {'connected_gene': 'HOXA1', 'score': 12.07}, {'connected_gene': 'HOXA2', 'score': 12.03}, {'connected_gene': 'HOXA-AS2', 'score': 11.25}, {'connected_gene': 'HOXA3', 'score': 11.16}, {'connected_gene': 'SKAP2', 'score': 10.28}, {'connected_gene': 'NHP2P2', 'score': 0.37}]
chr7 GH07I026860 26860462 26860611 0.74 [{'connected_gene': 'HOXA-AS3', 'score': 11.82}, {'connected_gene': 'HOXA5', 'score': 11.82}, {'connected_gene': 'HOXA4', 'score': 11.82}, {'connected_gene': 'HOXA6', 'score': 11.82}, {'connected_gene': 'HOXA3', 'score': 11.82}, {'connected_gene': 'HOXA2', 'score': 11.11}, {'connected_gene': 'HOTAIRM1', 'score': 11.1}, {'connected_gene': 'HOXA1', 'score': 11.1}, {'connected_gene': 'HOXA-AS2', 'score': 10.57}, {'connected_gene': 'GC07P026846', 'score': 0.37}, {'connected_gene': 'RPL7AP38', 'score': 0.21}, {'connected_gene': 'SKAP2', 'score': 0.12}]
chr7 GH07I026841 26841143 26841357 0.51 [{'connected_gene': 'GC07P026846', 'score': 550.77}, {'connected_gene': 'SKAP2', 'score': 4.58}, {'connected_gene': 'GC07M026718', 'score': 0.15}, {'connected_gene': 'GC07P026242', 'score': 0.03}]
chr7 GH07I026729 26729001 26729800 0.2 [{'connected_gene': 'GC07M026718', 'score': 0.39}, {'connected_gene': 'GC07P026673', 'score': 0.22}, {'connected_gene': 'SKAP2', 'score': 0.06}, {'connected_gene': 'GC07P026242', 'score': 0.04}]
chr7 GH07I026687 26687658 26687688 0.2 [{'connected_gene': 'GC07P026673', 'score': 0.39}, {'connected_gene': 'GC07M026718', 'score': 0.22}, {'connected_gene': 'SKAP2', 'score': 0.06}, {'connected_gene': 'GC07P026242', 'score': 0.05}]
chr7 GH07I026789 26789706 26790067 0.58 [{'connected_gene': 'GC07M026718', 'score': 0.25}, {'connected_gene': 'GC07P026846', 'score': 0.23}, {'connected_gene': 'SKAP2', 'score': 0.08}, {'connected_gene': 'GC07P026242', 'score': 0.03}]
chr7 GH07I026842 26841479 26841693 0.63 [{'connected_gene': 'GC07P026846', 'score': 550.77}, {'connected_gene': 'HOXA5', 'score': 6.46}, {'connected_gene': 'GC07M026718', 'score': 0.15}, {'connected_gene': 'SKAP2', 'score': 0.1}, {'connected_gene': 'GC07P026242', 'score': 0.03}]
chr7 GH07I026673 26673279 26673526 0.4 [{'connected_gene': 'GC07P026673', 'score': 550.77}, {'connected_gene': 'HOXA3', 'score': 12.06}, {'connected_gene': 'LOC105375304', 'score': 11.04}, {'connected_gene': 'GC07M026718', 'score': 0.19}, {'connected_gene': 'SKAP2', 'score': 0.05}, {'connected_gene': 'GC07P026242', 'score': 0.04}]
chr7 GH07I026655 26655660 26656329 0.69 [{'connected_gene': 'GC07M026655', 'score': 550.77}, {'connected_gene': 'LOC105375304', 'score': 11.51}, {'connected_gene': 'SKAP2', 'score': 11.23}, {'connected_gene': 'HOXA10-AS', 'score': 10.46}, {'connected_gene': 'HOXA9', 'score': 10.46}, {'connected_gene': 'HOTAIRM1', 'score': 7.06}, {'connected_gene': 'GC07P026673', 'score': 0.37}, {'connected_gene': 'GC07P026242', 'score': 0.05}]

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