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
ENST00000450904 [[68658743, 68658863], [68660357, 68660461], [68660870, 68660923], [68663982, 68664146], [68665394, 68665480], [68668002, 68668073], [68671190, 68671254]] [[68658798, 68658863], [68660357, 68660461], [68660870, 68660923], [68663982, 68664123]]
ENST00000362034 [[68658743, 68658863], [68660357, 68660461], [68660870, 68660923], [68663982, 68664146], [68665394, 68665480], [68668015, 68668073], [68671190, 68671288]] [[68658798, 68658863], [68660357, 68660461], [68660870, 68660923], [68663982, 68664146], [68665394, 68665480], [68668015, 68668073], [68671190, 68671278]]
ENST00000565125 [[68658746, 68660461], [68660789, 68660923], [68663982, 68664146], [68665394, 68665480], [68668002, 68668073], [68671190, 68671303]] [[68668011, 68668073], [68671190, 68671278]]
ENST00000541279 [[68658750, 68658863], [68660357, 68660461], [68660789, 68660923], [68663982, 68664146], [68665394, 68665480], [68668015, 68668073], [68671190, 68671295]] [[68660866, 68660923], [68663982, 68664146], [68665394, 68665480], [68668015, 68668073], [68671190, 68671278]]
ENST00000567045 [[68659959, 68660461], [68660870, 68660923], [68663982, 68664146], [68665394, 68665480], [68668002, 68668073], [68671190, 68671246]] [[68660067, 68660461], [68660870, 68660923], [68663982, 68664123]]
ENST00000544567 [[68660362, 68660461], [68660870, 68660923], [68663982, 68664306], [68665394, 68665480], [68671190, 68671282]] [[68665457, 68665480], [68671190, 68671278]]
ENST00000541265 [[68660436, 68660461], [68660870, 68660923], [68663936, 68664146], [68665394, 68665480], [68668002, 68668073], [68671190, 68671300]] [[68668011, 68668073], [68671190, 68671278]]
ENST00000536637 [[68665061, 68665480], [68668015, 68668073], [68671190, 68671270]] None
NM_181515 [[68658745, 68658863], [68660357, 68660461], [68660870, 68660923], [68663982, 68664146], [68665394, 68665480], [68668002, 68668073], [68671190, 68671303]] [[68658798, 68658863], [68660357, 68660461], [68660870, 68660923], [68663982, 68664123]]
NM_181514 [[68658745, 68658863], [68660357, 68660461], [68660870, 68660923], [68663982, 68664146], [68665394, 68665480], [68668015, 68668073], [68671190, 68671303]] [[68658798, 68658863], [68660357, 68660461], [68660870, 68660923], [68663982, 68664146], [68665394, 68665480], [68668015, 68668073], [68671190, 68671278]]
Promoter
Chrom Start End Description
chr11 68671244 68671253 CAGE_peak_2_at_MRPL21_5end
chr11 68671264 68671311 CAGE_peak_1_at_MRPL21_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I068693 68693895 68695430 0.31 [{'connected_gene': 'TESMIN', 'score': 22.85}, {'connected_gene': 'GAL', 'score': 11.27}, {'connected_gene': 'IGHMBP2', 'score': 10.08}, {'connected_gene': 'MRPL21', 'score': 10.08}]
chr11 GH11I068817 68816059 68816073 0.22 [{'connected_gene': 'TESMIN', 'score': 14.53}, {'connected_gene': 'IGHMBP2', 'score': 11.95}, {'connected_gene': 'MRPL21', 'score': 11.95}, {'connected_gene': 'GC11P068804', 'score': 0.39}, {'connected_gene': 'CPT1A', 'score': 0.31}]
chr11 GH11I068002 68002100 68005240 1.97 [{'connected_gene': 'UNC93B1', 'score': 563.35}, {'connected_gene': 'NDUFS8', 'score': 10.63}, {'connected_gene': 'ENSG00000255031', 'score': 8.97}, {'connected_gene': 'ALDH3B1', 'score': 8.7}, {'connected_gene': 'MRPL21', 'score': 5.51}, {'connected_gene': 'GC11M068005', 'score': 0.44}, {'connected_gene': 'OR7E1P', 'score': 0.31}]
chr11 GH11I068651 68651633 68651782 0.2 [{'connected_gene': 'GAL', 'score': 11.86}, {'connected_gene': 'TESMIN', 'score': 11.0}, {'connected_gene': 'IGHMBP2', 'score': 9.42}, {'connected_gene': 'MRPL21', 'score': 9.42}, {'connected_gene': 'MRGPRF', 'score': 6.35}, {'connected_gene': 'ENSG00000260808', 'score': 0.29}]
chr11 GH11I068763 68763353 68763502 0.77 [{'connected_gene': 'LRP5', 'score': 10.22}, {'connected_gene': 'IGHMBP2', 'score': 10.08}, {'connected_gene': 'MRPL21', 'score': 10.08}, {'connected_gene': 'PIR47748', 'score': 0.44}, {'connected_gene': 'PIR50743', 'score': 0.39}, {'connected_gene': 'CPT1A', 'score': 0.18}]
chr11 GH11I068813 68813718 68814214 0.31 [{'connected_gene': 'IGHMBP2', 'score': 11.95}, {'connected_gene': 'MRPL21', 'score': 11.95}, {'connected_gene': 'TESMIN', 'score': 11.24}, {'connected_gene': 'GC11P068804', 'score': 0.44}, {'connected_gene': 'CPT1A', 'score': 0.29}]
chr11 GH11I068812 68812416 68813076 0.51 [{'connected_gene': 'IGHMBP2', 'score': 11.94}, {'connected_gene': 'MRPL21', 'score': 11.94}, {'connected_gene': 'TESMIN', 'score': 11.27}, {'connected_gene': 'GC11P068804', 'score': 0.44}, {'connected_gene': 'CPT1A', 'score': 0.29}]
chr11 GH11I068819 68819775 68820112 0.49 [{'connected_gene': 'IGHMBP2', 'score': 11.95}, {'connected_gene': 'MRPL21', 'score': 11.95}, {'connected_gene': 'TESMIN', 'score': 11.23}, {'connected_gene': 'GC11P068804', 'score': 0.37}, {'connected_gene': 'CPT1A', 'score': 0.34}]
chr11 GH11I068818 68817954 68818602 0.54 [{'connected_gene': 'IGHMBP2', 'score': 11.95}, {'connected_gene': 'MRPL21', 'score': 11.95}, {'connected_gene': 'TESMIN', 'score': 11.23}, {'connected_gene': 'GC11P068804', 'score': 0.39}, {'connected_gene': 'CPT1A', 'score': 0.31}]
chr11 GH11I068816 68816933 68817684 0.9 [{'connected_gene': 'IGHMBP2', 'score': 11.95}, {'connected_gene': 'MRPL21', 'score': 11.95}, {'connected_gene': 'TESMIN', 'score': 11.23}, {'connected_gene': 'LOC105369364', 'score': 4.46}, {'connected_gene': 'GC11P068804', 'score': 0.39}, {'connected_gene': 'CPT1A', 'score': 0.31}]
chr11 GH11I069007 69006889 69006910 0.4 [{'connected_gene': 'IGHMBP2', 'score': 10.26}, {'connected_gene': 'MRPL21', 'score': 10.26}, {'connected_gene': 'GAL', 'score': 9.59}, {'connected_gene': 'ORAOV1', 'score': 8.75}, {'connected_gene': 'ENSG00000261276', 'score': 0.77}, {'connected_gene': 'MRGPRF-AS1', 'score': 0.44}, {'connected_gene': 'MRGPRF', 'score': 0.44}]
chr11 GH11I068902 68902977 68905674 2.11 [{'connected_gene': 'IGHMBP2', 'score': 638.16}, {'connected_gene': 'MRPL21', 'score': 558.96}, {'connected_gene': 'ORAOV1', 'score': 42.17}, {'connected_gene': 'KMT5B', 'score': 39.44}, {'connected_gene': 'MRGPRF-AS1', 'score': 21.73}, {'connected_gene': 'MRGPRF', 'score': 20.32}, {'connected_gene': 'LOC105369364', 'score': 19.38}, {'connected_gene': 'PPP6R3', 'score': 19.22}, {'connected_gene': 'ENSG00000260808', 'score': 15.81}, {'connected_gene': 'ENSG00000261625', 'score': 13.05}, {'connected_gene': 'TPCN2', 'score': 11.98}, {'connected_gene': 'ENSG00000255741', 'score': 0.28}]
chr11 GH11I068954 68954800 68956888 1.37 [{'connected_gene': 'IGHMBP2', 'score': 81.81}, {'connected_gene': 'MRPL21', 'score': 4.87}, {'connected_gene': 'TPCN2', 'score': 2.18}, {'connected_gene': 'ENSG00000255741', 'score': 0.39}, {'connected_gene': 'PIR43978', 'score': 0.34}]
chr11 GH11I068872 68872693 68872782 0.43 [{'connected_gene': 'IGHMBP2', 'score': 11.97}, {'connected_gene': 'MRPL21', 'score': 11.97}, {'connected_gene': 'LOC105369364', 'score': 0.77}]
chr11 GH11I068876 68876760 68878570 0.85 [{'connected_gene': 'IGHMBP2', 'score': 26.18}, {'connected_gene': 'MRPL21', 'score': 12.65}, {'connected_gene': 'LOC105369364', 'score': 0.44}]
chr11 GH11I068854 68854255 68858762 1.64 [{'connected_gene': 'IGHMBP2', 'score': 79.48}, {'connected_gene': 'LOC105369364', 'score': 20.69}, {'connected_gene': 'TESMIN', 'score': 12.29}, {'connected_gene': 'MRPL21', 'score': 11.56}, {'connected_gene': 'CPT1A', 'score': 1.94}]
chr11 GH11I068862 68862237 68863028 0.31 [{'connected_gene': 'IGHMBP2', 'score': 82.95}, {'connected_gene': 'LOC105369364', 'score': 21.45}, {'connected_gene': 'MRPL21', 'score': 11.58}, {'connected_gene': 'TESMIN', 'score': 10.98}, {'connected_gene': 'CPT1A', 'score': 0.37}]
chr11 GH11I068889 68889508 68892133 0.94 [{'connected_gene': 'IGHMBP2', 'score': 83.99}, {'connected_gene': 'LOC105369364', 'score': 20.05}, {'connected_gene': 'MRPL21', 'score': 0.39}]
chr11 GH11I068932 68932149 68937096 0.31 [{'connected_gene': 'IGHMBP2', 'score': 102.74}, {'connected_gene': 'LOC105369364', 'score': 18.78}, {'connected_gene': 'MRGPRD', 'score': 11.85}, {'connected_gene': 'MRPL21', 'score': 11.34}, {'connected_gene': 'MRGPRF-AS1', 'score': 11.11}, {'connected_gene': 'MRGPRF', 'score': 11.11}, {'connected_gene': 'ENSG00000255741', 'score': 0.44}]
chr11 GH11I069039 69039400 69039801 0.4 [{'connected_gene': 'IGHMBP2', 'score': 16.24}, {'connected_gene': 'MRGPRF-AS1', 'score': 12.4}, {'connected_gene': 'MRGPRF', 'score': 12.4}, {'connected_gene': 'MRGPRD', 'score': 11.18}, {'connected_gene': 'MRPL21', 'score': 6.62}, {'connected_gene': 'TPCN2', 'score': 0.44}]
chr11 GH11I069307 69307921 69313695 1.3 [{'connected_gene': 'MYEOV', 'score': 8.68}, {'connected_gene': 'TPCN2', 'score': 6.07}, {'connected_gene': 'ENSG00000260877', 'score': 4.97}, {'connected_gene': 'MRPL21', 'score': 4.68}, {'connected_gene': 'PPP6R3', 'score': 4.29}, {'connected_gene': 'IGHMBP2', 'score': 1.29}, {'connected_gene': 'IFITM9P', 'score': 0.44}, {'connected_gene': 'LOC105369370', 'score': 0.39}, {'connected_gene': 'GC11P069370', 'score': 0.22}]
chr11 GH11I069350 69350764 69354252 1.19 [{'connected_gene': 'MYEOV', 'score': 10.87}, {'connected_gene': 'MRPL21', 'score': 4.6}, {'connected_gene': 'GC11P069370', 'score': 0.37}, {'connected_gene': 'IFITM9P', 'score': 0.25}, {'connected_gene': 'LOC105369370', 'score': 0.23}]
chr11 GH11I069054 69054341 69057281 1.5 [{'connected_gene': 'TPCN2', 'score': 21.66}, {'connected_gene': 'IGHMBP2', 'score': 13.19}, {'connected_gene': 'MRGPRF-AS1', 'score': 11.4}, {'connected_gene': 'MRGPRF', 'score': 11.4}, {'connected_gene': 'MRPL21', 'score': 11.0}, {'connected_gene': 'PIR48560', 'score': 0.34}]
chr11 GH11I069048 69048014 69053762 2.39 [{'connected_gene': 'TPCN2', 'score': 568.94}, {'connected_gene': 'MRGPRF-AS1', 'score': 11.41}, {'connected_gene': 'MRGPRF', 'score': 11.41}, {'connected_gene': 'IGHMBP2', 'score': 11.01}, {'connected_gene': 'MRPL21', 'score': 11.01}, {'connected_gene': 'MRGPRD', 'score': 1.6}, {'connected_gene': 'PIR48560', 'score': 0.31}]
chr11 GH11I068810 68810139 68810795 0.43 [{'connected_gene': 'MRPL21', 'score': 15.72}, {'connected_gene': 'IGHMBP2', 'score': 10.59}, {'connected_gene': 'GC11P068804', 'score': 0.44}, {'connected_gene': 'CPT1A', 'score': 0.29}]
chr11 GH11I068836 68836688 68844800 2.29 [{'connected_gene': 'CPT1A', 'score': 550.77}, {'connected_gene': 'IGHMBP2', 'score': 68.29}, {'connected_gene': 'PPP6R3', 'score': 24.5}, {'connected_gene': 'MRGPRF-AS1', 'score': 17.54}, {'connected_gene': 'KMT5B', 'score': 16.02}, {'connected_gene': 'ENSG00000261625', 'score': 15.99}, {'connected_gene': 'ORAOV1', 'score': 15.6}, {'connected_gene': 'MRGPRF', 'score': 14.26}, {'connected_gene': 'ENSG00000260808', 'score': 11.15}, {'connected_gene': 'TPCN2', 'score': 10.64}, {'connected_gene': 'MRPL21', 'score': 4.84}, {'connected_gene': 'GC11P068804', 'score': 0.28}]
chr11 GH11I069006 69006988 69015975 2.36 [{'connected_gene': 'MRGPRF', 'score': 554.8}, {'connected_gene': 'MRGPRF-AS1', 'score': 550.77}, {'connected_gene': 'IGHMBP2', 'score': 45.13}, {'connected_gene': 'ENSG00000261625', 'score': 29.61}, {'connected_gene': 'MRPL21', 'score': 17.0}, {'connected_gene': 'PPP6R3', 'score': 11.65}, {'connected_gene': 'GAL', 'score': 9.58}, {'connected_gene': 'ORAOV1', 'score': 8.75}, {'connected_gene': 'ENSG00000261276', 'score': 0.44}]
chr11 GH11I069037 69037448 69038358 0.2 [{'connected_gene': 'MRGPRF', 'score': 12.42}, {'connected_gene': 'MRGPRF-AS1', 'score': 12.4}, {'connected_gene': 'MRGPRD', 'score': 11.18}, {'connected_gene': 'IGHMBP2', 'score': 8.31}, {'connected_gene': 'MRPL21', 'score': 6.33}, {'connected_gene': 'TPCN2', 'score': 0.39}]
chr11 GH11I068869 68869753 68870801 1.45 [{'connected_gene': 'LOC105369364', 'score': 570.86}, {'connected_gene': 'IGHMBP2', 'score': 79.49}, {'connected_gene': 'MRPL21', 'score': 11.89}, {'connected_gene': 'TESMIN', 'score': 11.1}, {'connected_gene': 'MRGPRF-AS1', 'score': 10.67}, {'connected_gene': 'MRGPRF', 'score': 10.67}, {'connected_gene': 'CPT1A', 'score': 0.31}]
chr11 GH11I069114 69114502 69116492 0.95 [{'connected_gene': 'MRGPRF-AS1', 'score': 10.98}, {'connected_gene': 'MRGPRF', 'score': 10.98}, {'connected_gene': 'ORAOV1', 'score': 10.83}, {'connected_gene': 'IGHMBP2', 'score': 10.27}, {'connected_gene': 'MRPL21', 'score': 10.27}, {'connected_gene': 'TPCN2', 'score': 8.8}, {'connected_gene': 'ENSG00000260895', 'score': 0.39}, {'connected_gene': 'PIR51352', 'score': 0.37}]
chr11 GH11I069105 69105264 69106965 0.94 [{'connected_gene': 'MRGPRF-AS1', 'score': 10.99}, {'connected_gene': 'MRGPRF', 'score': 10.99}, {'connected_gene': 'ORAOV1', 'score': 10.83}, {'connected_gene': 'IGHMBP2', 'score': 10.28}, {'connected_gene': 'MRPL21', 'score': 10.28}, {'connected_gene': 'ENSG00000260895', 'score': 0.77}, {'connected_gene': 'PIR51352', 'score': 0.31}, {'connected_gene': 'TPCN2', 'score': 0.22}]
chr11 GH11I069040 69040126 69041723 1.3 [{'connected_gene': 'MRGPRF-AS1', 'score': 12.4}, {'connected_gene': 'MRGPRF', 'score': 12.4}, {'connected_gene': 'MRGPRD', 'score': 11.18}, {'connected_gene': 'IGHMBP2', 'score': 8.52}, {'connected_gene': 'TPCN2', 'score': 7.39}, {'connected_gene': 'MRPL21', 'score': 7.11}]
chr11 GH11I068997 68997966 69005630 1.18 [{'connected_gene': 'ENSG00000261625', 'score': 579.05}, {'connected_gene': 'IGHMBP2', 'score': 33.72}, {'connected_gene': 'MRPL21', 'score': 17.32}, {'connected_gene': 'GAL', 'score': 9.59}, {'connected_gene': 'ORAOV1', 'score': 9.26}, {'connected_gene': 'MRGPRF-AS1', 'score': 8.64}, {'connected_gene': 'MRGPRD', 'score': 5.74}, {'connected_gene': 'ENSG00000261276', 'score': 0.77}, {'connected_gene': 'MRGPRF', 'score': 0.39}]
chr11 GH11I068941 68941434 68943810 0.78 [{'connected_gene': 'ENSG00000255741', 'score': 550.77}, {'connected_gene': 'IGHMBP2', 'score': 91.67}, {'connected_gene': 'MRPL21', 'score': 12.59}]