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
ENST00000320230 [[790474, 792068], [792141, 792217], [792303, 792458], [792552, 792727], [792869, 792988], [793528, 793619], [794457, 794513], [794775, 794901], [794986, 795169], [796042, 796361]] [[791914, 792068], [792141, 792217], [792303, 792458], [792552, 792727], [792869, 792988], [793528, 793619], [794457, 794513], [794775, 794901], [794986, 795006]]
ENST00000531214 [[791643, 792068], [792141, 792217], [792303, 792458], [792552, 792727], [792869, 792988], [793528, 793619], [794457, 794513], [794775, 794901], [794986, 795169], [797611, 797995]] [[791914, 792068], [792141, 792217], [792303, 792458], [792552, 792727], [792869, 792988], [793528, 793619], [794457, 794513], [794775, 794901], [794986, 795006]]
ENST00000481290 [[792341, 792458], [792552, 792727], [792869, 792988], [793528, 793619], [794457, 794588], [794775, 794901], [794986, 795175]] [[792341, 792458], [792552, 792727], [792869, 792988], [793528, 793619], [794457, 794588], [794775, 794901], [794986, 795006]]
ENST00000531437 [[792444, 792458], [792552, 792727], [792869, 792988], [793528, 793619], [794469, 794513], [794775, 794901], [794986, 795169], [798216, 798271]] [[792444, 792458], [792552, 792727], [792869, 792988], [793528, 793619], [794469, 794513], [794775, 794901], [794986, 795006]]
ENST00000529351 [[792869, 792988], [793528, 793619], [794452, 794513], [794775, 794901], [794986, 795169], [797611, 797998]] [[793607, 793619], [794452, 794513], [794775, 794901], [794986, 795006]]
ENST00000533385 [[792877, 792988], [793528, 793619], [794457, 794513], [794775, 794901], [794986, 795286]] [[792877, 792988], [793528, 793619], [794457, 794513], [794775, 794901], [794986, 795006]]
ENST00000526152 [[792899, 792988], [793528, 793619], [794457, 794513], [794775, 794901], [794986, 795164], [795339, 795419]] [[792899, 792988], [793528, 793619], [794457, 794513], [794775, 794901], [794986, 795006]]
ENST00000528606 [[792912, 792988], [793528, 793619], [794457, 794513], [794775, 794901], [794986, 795169], [796203, 796250]] [[792912, 792988], [793528, 793619], [794457, 794513], [794775, 794901], [794986, 795006]]
ENST00000527734 [[792921, 792988], [793528, 793619], [794452, 794513], [794775, 794901], [794986, 795169], [795339, 795394]] [[793607, 793619], [794452, 794513], [794775, 794901], [794986, 795006]]
ENST00000527723 [[792923, 792988], [793528, 793619], [794457, 794513], [794775, 794901], [794986, 795169], [795263, 795336]] [[792923, 792988], [793528, 793619], [794457, 794513], [794775, 794901], [794986, 795006]]
ENST00000531514 [[792939, 792988], [793528, 793619], [794457, 794513], [794775, 794901], [794986, 795169], [798216, 798316]] [[792939, 792988], [793528, 793619], [794457, 794513], [794775, 794901], [794986, 795006]]
ENST00000528936 [[792942, 792988], [793528, 793619], [794457, 794513], [794775, 794901], [794986, 795169], [795408, 795458]] [[792942, 792988], [793528, 793619], [794457, 794513], [794775, 794901], [794986, 795006]]
ENST00000456706 [[792952, 792988], [793528, 793619], [794457, 794513], [794775, 794901], [794986, 795169], [795339, 795438]] [[792952, 792988], [793528, 793619], [794457, 794513], [794775, 794901], [794986, 795006]]
ENST00000532484 [[792962, 792988], [793528, 793619], [794457, 794513], [794775, 794901], [794986, 795169], [797891, 797994]] [[792962, 792988], [793528, 793619], [794457, 794513], [794775, 794901], [794986, 795006]]
ENST00000524891 [[793477, 793619], [794457, 794513], [794775, 794901], [794986, 795006]] None
ENST00000529066 [[793586, 793619], [794457, 794513], [794775, 794901], [794986, 795164], [795512, 795677]] [[793586, 793619], [794457, 794513], [794775, 794901], [794986, 795006]]
ENST00000531534 [[793588, 793619], [794457, 794513], [794775, 794901], [794986, 795169], [795512, 795705]] [[793588, 793619], [794457, 794513], [794775, 794901], [794986, 795006]]
ENST00000532361 [[793904, 794513], [794775, 794901], [794986, 795169], [796203, 796255]] None
ENST00000527127 [[794260, 794513], [794775, 794901], [794986, 795193]] None
ENST00000525010 [[794368, 794513], [794775, 794901], [794986, 795169], [795339, 795419]] None
ENST00000532459 [[794402, 794513], [794775, 794901], [794986, 795169], [796042, 796200]] None
ENST00000525644 [[794405, 794513], [794775, 794901], [794986, 795164], [795339, 795419]] None
ENST00000530360 [[794480, 794513], [794775, 794901], [794986, 795164], [796042, 796240]] [[794480, 794513], [794775, 794901], [794986, 795006]]
NM_024698 [[790474, 792068], [792141, 792217], [792303, 792458], [792552, 792727], [792869, 792988], [793528, 793619], [794457, 794513], [794775, 794901], [794986, 795169], [796042, 796263]] [[791914, 792068], [792141, 792217], [792303, 792458], [792552, 792727], [792869, 792988], [793528, 793619], [794457, 794513], [794775, 794901], [794986, 795006]]
NM_001191060 [[790474, 792068], [792141, 792217], [792303, 792458], [792552, 792727], [792869, 792988], [793528, 793619], [794457, 794513], [794775, 794901], [794986, 795169], [797611, 797995]] [[791914, 792068], [792141, 792217], [792303, 792458], [792552, 792727], [792869, 792988], [793528, 793619], [794457, 794513], [794775, 794901], [794986, 795006]]
NM_001191061 [[790474, 792068], [792141, 792217], [792303, 792458], [792552, 792727], [792869, 792988], [793528, 793619], [794457, 794513], [794775, 794901], [794986, 795169], [798216, 798269]] [[791914, 792068], [792141, 792217], [792303, 792458], [792552, 792727], [792869, 792988], [793528, 793619], [794457, 794513], [794775, 794901], [794986, 795006]]
Promoter
Chrom Start End Description
chr11 795170 795199 CAGE_peak_5_at_SLC25A22_5end
chr11 795358 795372 CAGE_peak_9_at_SLC25A22_5end
chr11 795400 795438 CAGE_peak_6_at_SLC25A22_5end
chr11 796197 796263 CAGE_peak_2_at_SLC25A22_5end
chr11 798239 798303 CAGE_peak_1_at_SLC25A22_5end
chr11 798305 798321 CAGE_peak_3_at_SLC25A22_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I000839 839992 847569 2.25 [{'connected_gene': 'TSPAN4', 'score': 574.81}, {'connected_gene': 'POLR2L', 'score': 556.07}, {'connected_gene': 'GC11M000841', 'score': 550.77}, {'connected_gene': 'CD151', 'score': 50.69}, {'connected_gene': 'SNORA52', 'score': 29.58}, {'connected_gene': 'RPLP2', 'score': 26.64}, {'connected_gene': 'TMEM80', 'score': 25.95}, {'connected_gene': 'PIDD1', 'score': 23.35}, {'connected_gene': 'RIC8A', 'score': 21.73}, {'connected_gene': 'BET1L', 'score': 15.48}, {'connected_gene': 'ENSG00000255237', 'score': 13.61}, {'connected_gene': 'B4GALNT4', 'score': 13.27}, {'connected_gene': 'PHRF1', 'score': 12.95}, {'connected_gene': 'BRSK2', 'score': 11.54}, {'connected_gene': 'GATD1', 'score': 11.33}, {'connected_gene': 'SLC25A22', 'score': 11.33}, {'connected_gene': 'AP2A2', 'score': 11.32}, {'connected_gene': 'CEND1', 'score': 11.31}, {'connected_gene': 'ENSG00000255158', 'score': 10.55}, {'connected_gene': 'DEAF1', 'score': 9.95}, {'connected_gene': 'CHID1', 'score': 5.18}, {'connected_gene': 'PIR52875', 'score': 0.77}, {'connected_gene': 'ENSG00000250397', 'score': 0.37}]
chr11 GH11I000904 904864 904923 0.5 [{'connected_gene': 'CHID1', 'score': 550.39}, {'connected_gene': 'AP2A2', 'score': 11.91}, {'connected_gene': 'PIDD1', 'score': 11.02}, {'connected_gene': 'RPLP2', 'score': 11.02}, {'connected_gene': 'SLC25A22', 'score': 11.01}, {'connected_gene': 'CEND1', 'score': 11.0}, {'connected_gene': 'CD151', 'score': 8.92}, {'connected_gene': 'GC11P000900', 'score': 0.77}]
chr11 GH11I000803 803370 806602 1.99 [{'connected_gene': 'PIDD1', 'score': 556.22}, {'connected_gene': 'ENSG00000255108', 'score': 46.07}, {'connected_gene': 'RPLP2', 'score': 30.14}, {'connected_gene': 'LOC171391', 'score': 10.6}, {'connected_gene': 'CRACR2B', 'score': 5.25}, {'connected_gene': 'SLC25A22', 'score': 0.44}]
chr11 GH11I000788 788167 791555 1.51 [{'connected_gene': 'CEND1', 'score': 550.77}, {'connected_gene': 'ENSG00000255108', 'score': 63.36}, {'connected_gene': 'LOC171391', 'score': 10.69}, {'connected_gene': 'TMEM80', 'score': 7.3}, {'connected_gene': 'PIDD1', 'score': 5.0}, {'connected_gene': 'CRACR2B', 'score': 4.95}, {'connected_gene': 'ENSG00000255142', 'score': 0.44}, {'connected_gene': 'SLC25A22', 'score': 0.44}]
chr11 GH11I001051 1051121 1051390 1.02 [{'connected_gene': 'MUC2', 'score': 12.83}, {'connected_gene': 'AP2A2', 'score': 11.52}, {'connected_gene': 'PIDD1', 'score': 10.95}, {'connected_gene': 'RPLP2', 'score': 10.95}, {'connected_gene': 'SLC25A22', 'score': 10.16}, {'connected_gene': 'CEND1', 'score': 10.16}, {'connected_gene': 'GC11P001047', 'score': 0.77}, {'connected_gene': 'PIR44225', 'score': 0.44}, {'connected_gene': 'LOC101927503', 'score': 0.39}]
chr11 GH11I000657 657246 658592 0.72 [{'connected_gene': 'TMEM80', 'score': 56.58}, {'connected_gene': 'EPS8L2', 'score': 22.27}, {'connected_gene': 'DEAF1', 'score': 12.94}, {'connected_gene': 'CDHR5', 'score': 11.95}, {'connected_gene': 'IRF7', 'score': 11.92}, {'connected_gene': 'TALDO1', 'score': 11.84}, {'connected_gene': 'CEND1', 'score': 11.3}, {'connected_gene': 'SLC25A22', 'score': 11.29}, {'connected_gene': 'PIDD1', 'score': 11.29}, {'connected_gene': 'RPLP2', 'score': 11.29}, {'connected_gene': 'LOC171391', 'score': 11.18}, {'connected_gene': 'GATD1', 'score': 11.18}, {'connected_gene': 'ENSG00000255142', 'score': 11.17}, {'connected_gene': 'PTDSS2', 'score': 5.07}, {'connected_gene': 'HRAS', 'score': 4.98}, {'connected_gene': 'GC11P000654', 'score': 0.77}, {'connected_gene': 'GC11P000663', 'score': 0.44}]
chr11 GH11I000898 898121 898350 0.49 [{'connected_gene': 'AP2A2', 'score': 11.92}, {'connected_gene': 'PIDD1', 'score': 11.03}, {'connected_gene': 'RPLP2', 'score': 11.03}, {'connected_gene': 'SLC25A22', 'score': 11.02}, {'connected_gene': 'CEND1', 'score': 11.01}, {'connected_gene': 'CD151', 'score': 9.96}, {'connected_gene': 'GC11P000900', 'score': 0.77}, {'connected_gene': 'GC11M000881', 'score': 0.37}, {'connected_gene': 'CHID1', 'score': 0.37}]
chr11 GH11I001050 1050670 1051038 0.72 [{'connected_gene': 'AP2A2', 'score': 11.41}, {'connected_gene': 'PIDD1', 'score': 10.16}, {'connected_gene': 'RPLP2', 'score': 10.16}, {'connected_gene': 'SLC25A22', 'score': 10.16}, {'connected_gene': 'CEND1', 'score': 10.16}, {'connected_gene': 'LOC101927503', 'score': 6.36}, {'connected_gene': 'LMNTD2', 'score': 4.32}, {'connected_gene': 'GC11P001047', 'score': 0.77}, {'connected_gene': 'PIR44225', 'score': 0.44}]
chr11 GH11I000995 995741 995890 0.66 [{'connected_gene': 'RNU6-1025P', 'score': 11.83}, {'connected_gene': 'AP2A2', 'score': 11.78}, {'connected_gene': 'PIDD1', 'score': 10.69}, {'connected_gene': 'RPLP2', 'score': 10.69}, {'connected_gene': 'SLC25A22', 'score': 10.69}, {'connected_gene': 'CEND1', 'score': 10.68}, {'connected_gene': 'GC11M000999', 'score': 0.39}, {'connected_gene': 'GC11P000968', 'score': 0.31}]
chr11 GH11I000996 995361 995470 0.38 [{'connected_gene': 'RNU6-1025P', 'score': 11.83}, {'connected_gene': 'AP2A2', 'score': 11.78}, {'connected_gene': 'PIDD1', 'score': 10.69}, {'connected_gene': 'RPLP2', 'score': 10.69}, {'connected_gene': 'SLC25A22', 'score': 10.69}, {'connected_gene': 'CEND1', 'score': 10.68}, {'connected_gene': 'GC11M000999', 'score': 0.39}, {'connected_gene': 'GC11P000968', 'score': 0.31}]
chr11 GH11I000514 514302 516144 0.58 [{'connected_gene': 'LOC105376507', 'score': 550.77}, {'connected_gene': 'RNH1', 'score': 18.43}, {'connected_gene': 'HRAS', 'score': 12.9}, {'connected_gene': 'LOC692247', 'score': 12.82}, {'connected_gene': 'RASSF7', 'score': 12.82}, {'connected_gene': 'LMNTD2', 'score': 12.81}, {'connected_gene': 'PTDSS2', 'score': 12.12}, {'connected_gene': 'SLC25A22', 'score': 11.01}, {'connected_gene': 'CEND1', 'score': 11.01}, {'connected_gene': 'PIDD1', 'score': 11.01}, {'connected_gene': 'RPLP2', 'score': 11.01}, {'connected_gene': 'ENSG00000255158', 'score': 10.57}, {'connected_gene': 'DRD4', 'score': 8.86}, {'connected_gene': 'LRRC56', 'score': 0.77}, {'connected_gene': 'GC11P000507', 'score': 0.44}]
chr11 GH11I000836 836784 839613 1.13 [{'connected_gene': 'GC11M000839', 'score': 550.77}, {'connected_gene': 'CD151', 'score': 62.43}, {'connected_gene': 'SNORA52', 'score': 12.55}, {'connected_gene': 'PIDD1', 'score': 12.55}, {'connected_gene': 'RPLP2', 'score': 12.55}, {'connected_gene': 'SLC25A22', 'score': 11.36}, {'connected_gene': 'CEND1', 'score': 11.33}, {'connected_gene': 'AP2A2', 'score': 11.31}, {'connected_gene': 'POLR2L', 'score': 0.77}, {'connected_gene': 'PIR52875', 'score': 0.77}]
chr11 GH11I000794 793661 793810 0.51 [{'connected_gene': 'GC11P000804', 'score': 550.77}, {'connected_gene': 'GC11P000798', 'score': 550.77}, {'connected_gene': 'SLC25A22', 'score': 0.77}]
chr11 GH11I000662 662801 662970 0.72 [{'connected_gene': 'GC11P000663', 'score': 550.77}, {'connected_gene': 'EPS8L2', 'score': 12.12}, {'connected_gene': 'TMEM80', 'score': 12.12}, {'connected_gene': 'CDHR5', 'score': 12.09}, {'connected_gene': 'DEAF1', 'score': 12.09}, {'connected_gene': 'IRF7', 'score': 12.06}, {'connected_gene': 'LOC171391', 'score': 11.54}, {'connected_gene': 'GATD1', 'score': 11.54}, {'connected_gene': 'ENSG00000255142', 'score': 11.53}, {'connected_gene': 'CEND1', 'score': 11.16}, {'connected_gene': 'SLC25A22', 'score': 11.15}, {'connected_gene': 'PIDD1', 'score': 11.15}, {'connected_gene': 'RPLP2', 'score': 11.15}, {'connected_gene': 'GC11P000654', 'score': 0.44}]
chr11 GH11I000654 654861 655777 1.04 [{'connected_gene': 'GC11P000654', 'score': 550.77}, {'connected_gene': 'TMEM80', 'score': 35.1}, {'connected_gene': 'CDHR5', 'score': 16.91}, {'connected_gene': 'EPS8L2', 'score': 12.64}, {'connected_gene': 'DEAF1', 'score': 12.6}, {'connected_gene': 'IRF7', 'score': 12.55}, {'connected_gene': 'TALDO1', 'score': 11.88}, {'connected_gene': 'ENSG00000255142', 'score': 11.65}, {'connected_gene': 'LOC171391', 'score': 11.65}, {'connected_gene': 'GATD1', 'score': 11.65}, {'connected_gene': 'CEND1', 'score': 11.1}, {'connected_gene': 'SLC25A22', 'score': 11.1}, {'connected_gene': 'PIDD1', 'score': 11.09}, {'connected_gene': 'RPLP2', 'score': 11.09}, {'connected_gene': 'PTDSS2', 'score': 5.18}, {'connected_gene': 'CHID1', 'score': 5.08}, {'connected_gene': 'SIRT3', 'score': 2.35}, {'connected_gene': 'NLRP6', 'score': 1.29}, {'connected_gene': 'GC11P000663', 'score': 0.44}]
chr11 GH11I000793 793917 798732 2.19 [{'connected_gene': 'GC11P000798', 'score': 550.77}, {'connected_gene': 'PANO1', 'score': 550.77}, {'connected_gene': 'SLC25A22', 'score': 550.77}, {'connected_gene': 'TMEM80', 'score': 12.93}, {'connected_gene': 'EPS8L2', 'score': 9.85}, {'connected_gene': 'ENSG00000255108', 'score': 5.65}, {'connected_gene': 'PIDD1', 'score': 5.25}, {'connected_gene': 'CRACR2B', 'score': 4.91}]

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