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
ENST00000379415 [[11735800, 11735916], [11766506, 11766608], [11768481, 11768616], [11778839, 11779199], [11803247, 11803362], [11807116, 11807279]] [[11735800, 11735916], [11766506, 11766608], [11768481, 11768616], [11778839, 11778992]]
ENST00000505099 [[11712286, 11712467], [11714566, 11714745], [11723581, 11723733], [11735800, 11735916], [11766506, 11766565]] [[11714710, 11714745], [11723581, 11723733], [11735800, 11735916], [11766506, 11766565]]
ENST00000414691 [[11713756, 11714745], [11723581, 11723733], [11735800, 11735916], [11766506, 11766608], [11768481, 11768616], [11778839, 11779403]] [[11714710, 11714745], [11723581, 11723733], [11735800, 11735916], [11766506, 11766608], [11768481, 11768616], [11778839, 11778992]]
ENST00000514824 [[11713907, 11714745], [11717541, 11717647], [11723581, 11723733], [11735800, 11735916], [11736236, 11736947]] None
ENST00000513651 [[11714186, 11714745], [11723581, 11723733], [11728559, 11728790]] None
ENST00000512139 [[11714553, 11714745], [11723581, 11723733], [11735800, 11735916], [11766506, 11766608], [11767886, 11768037]] None
ENST00000229583 [[11714610, 11714745], [11723581, 11723733], [11735800, 11735916], [11766506, 11766608], [11768481, 11768616], [11770263, 11770317], [11778839, 11779036]] [[11714710, 11714745], [11723581, 11723733], [11735800, 11735916], [11766506, 11766608], [11768481, 11768616], [11770263, 11770317], [11778839, 11778992]]
ENST00000503285 [[11717362, 11717647], [11723581, 11723733], [11735800, 11735889]] [[11717537, 11717647], [11723581, 11723733], [11735800, 11735889]]
ENST00000379413 [[11717537, 11717647], [11723581, 11723733], [11735800, 11735916], [11766506, 11766608], [11768481, 11768616], [11778839, 11779280]] [[11717537, 11717647], [11723581, 11723733], [11735800, 11735916], [11766506, 11766608], [11768481, 11768616], [11778839, 11778992]]
ENST00000506810 [[11735802, 11735916], [11766506, 11766608], [11768481, 11768616], [11778839, 11779199], [11779755, 11779861]] [[11735802, 11735916], [11766506, 11766608], [11768481, 11768616], [11778839, 11778992]]
ENST00000485323 [[11738765, 11738855], [11766506, 11766608], [11768481, 11768616], [11770263, 11770322], [11778839, 11778992]] [[11768567, 11768616], [11770263, 11770322], [11778839, 11778992]]
NM_001143948 [[11713887, 11714745], [11723581, 11723733], [11735800, 11735916], [11766506, 11766608], [11768481, 11768616], [11770263, 11770317], [11778839, 11779280]] [[11714710, 11714745], [11723581, 11723733], [11735800, 11735916], [11766506, 11766608], [11768481, 11768616], [11770263, 11770317], [11778839, 11778992]]
NM_032744 [[11713887, 11714745], [11723581, 11723733], [11735800, 11735916], [11766506, 11766608], [11768481, 11768616], [11778839, 11779280]] [[11714710, 11714745], [11723581, 11723733], [11735800, 11735916], [11766506, 11766608], [11768481, 11768616], [11778839, 11778992]]
Promoter
Chrom Start End Description
chr6 11728617 11728666 CAGE_peak_2_at_C6orf105_5end
chr6 11728667 11728681 CAGE_peak_6_at_C6orf105_5end
chr6 11728682 11728699 CAGE_peak_4_at_C6orf105_5end
chr6 11728739 11728753 CAGE_peak_5_at_C6orf105_5end
chr6 11778988 11779007 CAGE_peak_3_at_C6orf105_5end
chr6 11779014 11779065 CAGE_peak_1_at_C6orf105_5end
chr6 11779083 11779088 CAGE_peak_11_at_C6orf105_5end
chr6 11779112 11779123 CAGE_peak_12_at_C6orf105_5end
chr6 11779174 11779185 CAGE_peak_9_at_C6orf105_5end
chr6 11779403 11779410 CAGE_peak_21_at_C6orf105_5end
chr6 11779840 11779867 CAGE_peak_7_at_C6orf105_5end
chr6 11807159 11807169 CAGE_peak_19_at_C6orf105_5end
chr6 11807187 11807204 CAGE_peak_8_at_C6orf105_5end
chr6 11807250 11807275 CAGE_peak_10_at_C6orf105_5end
chr6 11807277 11807292 CAGE_peak_13_at_C6orf105_5end
chr6 11807341 11807353 CAGE_peak_14_at_C6orf105_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I011717 11717014 11720095 0.2 [{'connected_gene': 'ADTRP', 'score': 5.49}, {'connected_gene': 'GC06P011709', 'score': 0.44}, {'connected_gene': 'GC06P011703', 'score': 0.37}, {'connected_gene': 'LOC340184', 'score': 0.31}, {'connected_gene': 'GC06M011750', 'score': 0.29}]
chr6 GH06I011765 11765013 11773717 1.66 [{'connected_gene': 'ADTRP', 'score': 18.07}, {'connected_gene': 'HIVEP1', 'score': 17.97}, {'connected_gene': 'ENSG00000271897', 'score': 5.58}, {'connected_gene': 'TMEM170B', 'score': 4.53}, {'connected_gene': 'NEDD9', 'score': 1.18}, {'connected_gene': 'GC06M011750', 'score': 0.37}, {'connected_gene': 'GC06P011785', 'score': 0.37}]
chr6 GH06I011744 11744401 11745477 1.03 [{'connected_gene': 'ADTRP', 'score': 13.55}, {'connected_gene': 'HIVEP1', 'score': 13.45}, {'connected_gene': 'TMEM170B', 'score': 2.22}, {'connected_gene': 'GC06M011750', 'score': 0.44}, {'connected_gene': 'GC06P011709', 'score': 0.28}]
chr6 GH06I011741 11741714 11742093 0.36 [{'connected_gene': 'ADTRP', 'score': 16.14}, {'connected_gene': 'HIVEP1', 'score': 1.27}, {'connected_gene': 'GC06M011750', 'score': 0.44}, {'connected_gene': 'GC06P011709', 'score': 0.29}]
chr6 GH06I011813 11813800 11816063 0.43 [{'connected_gene': 'ADTRP', 'score': 8.46}, {'connected_gene': 'AMD1P4', 'score': 5.09}, {'connected_gene': 'ENSG00000234427', 'score': 0.77}, {'connected_gene': 'GC06P011838', 'score': 0.34}, {'connected_gene': 'GC06M011802', 'score': 0.34}, {'connected_gene': 'GC06P011785', 'score': 0.31}]
chr6 GH06I011829 11829233 11831015 1.08 [{'connected_gene': 'ADTRP', 'score': 11.95}, {'connected_gene': 'TMEM170B', 'score': 1.48}, {'connected_gene': 'GC06P011838', 'score': 0.44}, {'connected_gene': 'GC06M011802', 'score': 0.44}, {'connected_gene': 'ENSG00000234427', 'score': 0.37}, {'connected_gene': 'GC06P011785', 'score': 0.25}]
chr6 GH06I011827 11827748 11828686 1.14 [{'connected_gene': 'ADTRP', 'score': 11.95}, {'connected_gene': 'TMEM170B', 'score': 1.63}, {'connected_gene': 'GC06P011838', 'score': 0.44}, {'connected_gene': 'GC06M011802', 'score': 0.39}, {'connected_gene': 'ENSG00000234427', 'score': 0.37}, {'connected_gene': 'GC06P011785', 'score': 0.26}]
chr6 GH06I011803 11803125 11803997 0.64 [{'connected_gene': 'ADTRP', 'score': 13.46}, {'connected_gene': 'GC06P011785', 'score': 0.37}, {'connected_gene': 'GC06M011802', 'score': 0.28}]
chr6 GH06I011759 11759627 11764196 0.84 [{'connected_gene': 'ADTRP', 'score': 16.21}, {'connected_gene': 'GC06M011750', 'score': 0.39}, {'connected_gene': 'GC06P011785', 'score': 0.34}]
chr6 GH06I011804 11804413 11807398 1.06 [{'connected_gene': 'ADTRP', 'score': 565.07}, {'connected_gene': 'GC06P011785', 'score': 0.34}, {'connected_gene': 'GC06M011802', 'score': 0.29}]
chr6 GH06I011777 11777967 11780257 1.59 [{'connected_gene': 'ADTRP', 'score': 569.34}, {'connected_gene': 'GC06P011785', 'score': 0.44}, {'connected_gene': 'GC06M011750', 'score': 0.31}]
chr6 GH06I011754 11754238 11755719 0.4 [{'connected_gene': 'ADTRP', 'score': 28.22}, {'connected_gene': 'GC06M011750', 'score': 0.77}, {'connected_gene': 'GC06P011785', 'score': 0.29}]
chr6 GH06I011793 11793923 11797029 0.89 [{'connected_gene': 'ADTRP', 'score': 7.71}, {'connected_gene': 'GC06P011785', 'score': 0.39}]
chr6 GH06I011798 11798188 11798337 0.2 [{'connected_gene': 'ADTRP', 'score': 0.44}, {'connected_gene': 'GC06P011785', 'score': 0.39}]
chr6 GH06I011774 11774437 11774760 0.34 [{'connected_gene': 'HIVEP1', 'score': 18.76}, {'connected_gene': 'ADTRP', 'score': 12.17}, {'connected_gene': 'TMEM170B', 'score': 4.18}, {'connected_gene': 'NEDD9', 'score': 1.15}, {'connected_gene': 'GC06P011785', 'score': 0.39}, {'connected_gene': 'GC06M011750', 'score': 0.34}]
chr6 GH06I011709 11709806 11715530 1.59 [{'connected_gene': 'HIVEP1', 'score': 16.88}, {'connected_gene': 'ADTRP', 'score': 6.05}, {'connected_gene': 'TMEM170B', 'score': 5.4}, {'connected_gene': 'THAP12P5', 'score': 4.96}, {'connected_gene': 'NEDD9', 'score': 1.82}, {'connected_gene': 'GC06P011709', 'score': 0.77}, {'connected_gene': 'GC06P011703', 'score': 0.44}, {'connected_gene': 'LOC340184', 'score': 0.34}, {'connected_gene': 'GC06M011750', 'score': 0.28}]
chr6 GH06I011728 11728070 11730179 1.15 [{'connected_gene': 'HIVEP1', 'score': 5.25}, {'connected_gene': 'GC06P011709', 'score': 0.37}, {'connected_gene': 'GC06M011750', 'score': 0.34}, {'connected_gene': 'ADTRP', 'score': 0.18}]
chr6 GH06I011730 11730533 11733163 1.58 [{'connected_gene': 'HIVEP1', 'score': 21.79}, {'connected_gene': 'TMEM170B', 'score': 4.89}, {'connected_gene': 'THAP12P5', 'score': 4.64}, {'connected_gene': 'ADTRP', 'score': 4.45}, {'connected_gene': 'NEDD9', 'score': 1.42}, {'connected_gene': 'GC06M011750', 'score': 0.37}, {'connected_gene': 'GC06P011709', 'score': 0.34}]
chr6 GH06I011648 11648402 11656915 1.53 [{'connected_gene': 'EDN1', 'score': 11.44}, {'connected_gene': 'C6orf52', 'score': 4.82}, {'connected_gene': 'ADTRP', 'score': 4.69}, {'connected_gene': 'GC06P011650', 'score': 0.77}, {'connected_gene': 'LOC340184', 'score': 0.28}]
chr6 GH06I011734 11734000 11736124 0.52 [{'connected_gene': 'THAP12P5', 'score': 4.64}, {'connected_gene': 'ADTRP', 'score': 4.58}, {'connected_gene': 'GC06M011750', 'score': 0.37}, {'connected_gene': 'GC06P011709', 'score': 0.31}]
chr6 GH06I011725 11725889 11726811 0.31 [{'connected_gene': 'THAP12P5', 'score': 4.64}, {'connected_gene': 'GC06P011709', 'score': 0.37}, {'connected_gene': 'GC06M011750', 'score': 0.34}, {'connected_gene': 'ADTRP', 'score': 0.18}]
chr6 GH06I011722 11722448 11723894 0.87 [{'connected_gene': 'THAP12P5', 'score': 4.32}, {'connected_gene': 'GC06P011709', 'score': 0.39}, {'connected_gene': 'GC06M011750', 'score': 0.31}, {'connected_gene': 'LOC340184', 'score': 0.29}, {'connected_gene': 'ADTRP', 'score': 0.18}]
chr6 GH06I011749 11749769 11752067 0.68 [{'connected_gene': 'GC06M011750', 'score': 550.77}, {'connected_gene': 'ADTRP', 'score': 16.58}, {'connected_gene': 'EDN1', 'score': 10.04}, {'connected_gene': 'GC06P011709', 'score': 0.26}]
chr6 GH06I011809 11809113 11811182 1.04 [{'connected_gene': 'ENSG00000234427', 'score': 550.77}, {'connected_gene': 'ADTRP', 'score': 9.06}, {'connected_gene': 'AMD1P4', 'score': 7.01}, {'connected_gene': 'GC06M011802', 'score': 0.31}, {'connected_gene': 'GC06P011785', 'score': 0.31}]
chr6 GH06I011785 11785195 11787156 1.29 [{'connected_gene': 'GC06P011785', 'score': 550.77}, {'connected_gene': 'ADTRP', 'score': 9.36}]

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