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
ENST00000529912 [[74407473, 74407630], [74408249, 74408342], [74408645, 74408739]] [[74407542, 74407630], [74408249, 74408342], [74408645, 74408739]]
ENST00000525413 [[74407473, 74407630], [74413845, 74414012], [74414349, 74414544], [74415530, 74415680]] [[74407609, 74407630], [74413845, 74414012], [74414349, 74414544], [74415530, 74415680]]
ENST00000376324 [[74407473, 74407630], [74408249, 74408342], [74413838, 74414012], [74414349, 74414544], [74415530, 74415699], [74417531, 74417587], [74419346, 74419440], [74421893, 74422036], [74429764, 74430348]] [[74415698, 74415699], [74417531, 74417587], [74419346, 74419440], [74421893, 74422036], [74429764, 74429899]]
ENST00000263671 [[74407473, 74407630], [74408249, 74408342], [74412636, 74412691], [74413838, 74414012], [74414349, 74414544], [74415530, 74415699], [74417531, 74417587], [74419346, 74419440], [74421893, 74422036], [74424430, 74424524], [74429764, 74429877], [74441851, 74442220]] [[74407542, 74407630], [74408249, 74408342], [74412636, 74412691], [74413838, 74414012], [74414349, 74414544], [74415530, 74415699], [74417531, 74417587], [74419346, 74419440], [74421893, 74422036], [74424430, 74424524], [74429764, 74429877], [74441851, 74441933]]
ENST00000376332 [[74407473, 74407630], [74408249, 74408342], [74413838, 74414012], [74414349, 74414544], [74415530, 74415699], [74417531, 74417587], [74419346, 74419440], [74421893, 74422036], [74424430, 74424524], [74429764, 74429877], [74441851, 74442430]] [[74407553, 74407630], [74408249, 74408342], [74413838, 74414012], [74414349, 74414544], [74415530, 74415699], [74417531, 74417587], [74419346, 74419440], [74421893, 74422036], [74424430, 74424524], [74429764, 74429877], [74441851, 74441933]]
ENST00000534159 [[74411966, 74412552], [74413838, 74414012], [74414349, 74414544], [74415530, 74415699], [74417531, 74417587], [74419346, 74419440], [74421893, 74422036], [74424430, 74424524], [74429764, 74429877], [74441851, 74442198]] None
ENST00000528471 [[74413838, 74414012], [74414349, 74414544], [74415530, 74415699], [74417531, 74417587], [74421893, 74422036], [74429764, 74430348]] [[74417583, 74417587], [74421893, 74422036], [74429764, 74429899]]
ENST00000534276 [[74413838, 74414012], [74414349, 74414544], [74415530, 74415699], [74417531, 74417587], [74421893, 74422036], [74424430, 74424524], [74429764, 74430348]] [[74415698, 74415699], [74417531, 74417587], [74421893, 74422036], [74424430, 74424524], [74429764, 74429899]]
ENST00000528789 [[74413838, 74414012], [74415530, 74415699], [74417531, 74417587], [74419346, 74419440], [74421893, 74422036], [74424430, 74424524], [74429764, 74429877], [74441851, 74442227]] [[74413838, 74414012], [74415530, 74415699], [74417531, 74417587], [74419346, 74419440], [74421893, 74422036], [74424430, 74424524], [74429764, 74429877], [74441851, 74441933]]
NM_001304417 [[74407472, 74407630], [74408249, 74408342], [74412636, 74412691], [74413838, 74414012], [74414349, 74414544], [74415530, 74415699], [74417531, 74417587], [74419346, 74419440], [74421893, 74422412]] [[74407542, 74407630], [74408249, 74408342], [74412636, 74412691], [74413838, 74414012], [74414349, 74414544], [74415530, 74415699], [74417531, 74417587], [74419346, 74419440], [74421893, 74422130]]
NM_001304390 [[74407472, 74407630], [74408249, 74408342], [74412636, 74412691], [74413838, 74414012], [74414349, 74414544], [74415530, 74415699], [74417531, 74417587], [74419346, 74419440], [74421893, 74422036], [74424430, 74424524], [74429764, 74430348]] [[74407542, 74407630], [74408249, 74408342], [74412636, 74412691], [74413838, 74414012], [74414349, 74414544], [74415530, 74415699], [74417531, 74417587], [74419346, 74419440], [74421893, 74422036], [74424430, 74424524], [74429764, 74429899]]
NM_001304391 [[74407472, 74407630], [74408249, 74408342], [74412636, 74412691], [74413838, 74414012], [74415530, 74415699], [74417531, 74417587], [74419346, 74419440], [74421893, 74422036], [74424430, 74424524], [74429764, 74430348]] [[74407542, 74407630], [74408249, 74408342], [74412636, 74412691], [74413838, 74414012], [74415530, 74415699], [74417531, 74417587], [74419346, 74419440], [74421893, 74422036], [74424430, 74424524], [74429764, 74429899]]
NM_001304415 [[74407472, 74407630], [74408249, 74408342], [74413838, 74414012], [74415530, 74415699], [74417531, 74417587], [74419346, 74419440], [74421893, 74422036], [74424430, 74424524], [74429764, 74430348]] [[74407553, 74407630], [74408249, 74408342], [74413838, 74414012], [74415530, 74415699], [74417531, 74417587], [74419346, 74419440], [74421893, 74422036], [74424430, 74424524], [74429764, 74429899]]
NM_001304416 [[74407472, 74407630], [74408249, 74408342], [74413838, 74414012], [74414349, 74414544], [74415530, 74415699], [74417531, 74417587], [74419346, 74419440], [74421893, 74422036], [74429764, 74430348]] [[74407553, 74407630], [74408249, 74408342], [74413838, 74414012], [74414349, 74414544], [74415530, 74415699], [74417531, 74417587], [74419346, 74419440], [74421893, 74421977]]
NM_015424 [[74407472, 74407630], [74408249, 74408342], [74412636, 74412691], [74413838, 74414012], [74414349, 74414544], [74415530, 74415699], [74417531, 74417587], [74419346, 74419440], [74421893, 74422036], [74424430, 74424524], [74429764, 74429877], [74441851, 74442430]] [[74407542, 74407630], [74408249, 74408342], [74412636, 74412691], [74413838, 74414012], [74414349, 74414544], [74415530, 74415699], [74417531, 74417587], [74419346, 74419440], [74421893, 74422036], [74424430, 74424524], [74429764, 74429877], [74441851, 74441933]]
NM_001278473 [[74407472, 74407630], [74408249, 74408342], [74413838, 74414012], [74414349, 74414544], [74415530, 74415699], [74417531, 74417587], [74419346, 74419440], [74421893, 74422036], [74424430, 74424524], [74429764, 74429877], [74441851, 74442430]] [[74407553, 74407630], [74408249, 74408342], [74413838, 74414012], [74414349, 74414544], [74415530, 74415699], [74417531, 74417587], [74419346, 74419440], [74421893, 74422036], [74424430, 74424524], [74429764, 74429877], [74441851, 74441933]]
Promoter
Chrom Start End Description
chr11 74408877 74408901 CAGE_peak_4_at_CHRDL2_5end
chr11 74442461 74442481 CAGE_peak_1_at_CHRDL2_5end
chr11 74442489 74442515 CAGE_peak_2_at_CHRDL2_5end
chr11 74442527 74442538 CAGE_peak_3_at_CHRDL2_5end
chr11 74442667 74442670 CAGE_peak_5_at_CHRDL2_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I074678 74678149 74679136 0.57 [{'connected_gene': 'RPS12P22', 'score': 15.01}, {'connected_gene': 'KCNE3', 'score': 14.08}, {'connected_gene': 'RANP3', 'score': 11.94}, {'connected_gene': 'CHRDL2', 'score': 11.13}, {'connected_gene': 'RNF169', 'score': 10.3}, {'connected_gene': 'RN7SKP297', 'score': 0.44}, {'connected_gene': 'GC11P074653', 'score': 0.31}]
chr11 GH11I074671 74671455 74674852 1.59 [{'connected_gene': 'CHRDL2', 'score': 16.96}, {'connected_gene': 'C2CD3', 'score': 12.57}, {'connected_gene': 'RPS12P22', 'score': 4.95}, {'connected_gene': 'KCNE3', 'score': 4.7}, {'connected_gene': 'RN7SKP297', 'score': 0.39}, {'connected_gene': 'GC11P074653', 'score': 0.34}]
chr11 GH11I074753 74753513 74756344 1.2 [{'connected_gene': 'CHRDL2', 'score': 11.24}, {'connected_gene': 'XRRA1', 'score': 8.94}, {'connected_gene': 'RNF169', 'score': 8.55}, {'connected_gene': 'POLD3', 'score': 1.87}, {'connected_gene': 'ENSG00000278879', 'score': 0.18}]
chr11 GH11I074731 74731254 74731313 0.76 [{'connected_gene': 'CHRDL2', 'score': 550.77}, {'connected_gene': 'XRRA1', 'score': 37.57}, {'connected_gene': 'MIR4696', 'score': 0.39}]
chr11 GH11I074580 74580550 74582910 0.96 [{'connected_gene': 'CHRDL2', 'score': 5.72}, {'connected_gene': 'LOC105369386', 'score': 0.44}, {'connected_gene': 'GC11M074646', 'score': 0.2}, {'connected_gene': 'POLD3', 'score': 0.17}]
chr11 GH11I074636 74636276 74637424 1.03 [{'connected_gene': 'CHRDL2', 'score': 5.56}, {'connected_gene': 'GC11M074646', 'score': 0.39}, {'connected_gene': 'LOC105369386', 'score': 0.21}, {'connected_gene': 'POLD3', 'score': 0.11}]
chr11 GH11I074648 74648411 74651141 0.66 [{'connected_gene': 'CHRDL2', 'score': 5.55}, {'connected_gene': 'GC11M074646', 'score': 0.77}, {'connected_gene': 'RANP3', 'score': 0.77}, {'connected_gene': 'POLD3', 'score': 0.1}]
chr11 GH11I074732 74731416 74731475 0.73 [{'connected_gene': 'CHRDL2', 'score': 550.77}, {'connected_gene': 'RPL36AP38', 'score': 0.44}]
chr11 GH11I074611 74611400 74612200 0.8 [{'connected_gene': 'CHRDL2', 'score': 15.88}, {'connected_gene': 'KCNE3', 'score': 9.89}, {'connected_gene': 'ENSG00000254928', 'score': 9.89}, {'connected_gene': 'POLD3', 'score': 4.92}, {'connected_gene': 'LOC105369386', 'score': 0.28}, {'connected_gene': 'GC11M074646', 'score': 0.28}]
chr11 GH11I074685 74685959 74688945 0.71 [{'connected_gene': 'CHRDL2', 'score': 16.97}, {'connected_gene': 'KCNE3', 'score': 15.37}, {'connected_gene': 'RANP3', 'score': 12.14}, {'connected_gene': 'ENSG00000254928', 'score': 9.61}, {'connected_gene': 'RN7SKP297', 'score': 0.77}, {'connected_gene': 'GC11M074700', 'score': 0.39}]
chr11 GH11I074707 74707400 74708705 0.49 [{'connected_gene': 'XRRA1', 'score': 34.45}, {'connected_gene': 'CHRDL2', 'score': 11.11}, {'connected_gene': 'RANP3', 'score': 10.54}, {'connected_gene': 'ENSG00000279353', 'score': 0.44}, {'connected_gene': 'GC11M074716', 'score': 0.44}]
chr11 GH11I074709 74709816 74711021 1.04 [{'connected_gene': 'XRRA1', 'score': 7.63}, {'connected_gene': 'GC11M074716', 'score': 0.44}, {'connected_gene': 'ENSG00000279353', 'score': 0.39}, {'connected_gene': 'CHRDL2', 'score': 0.34}]
chr11 GH11I074725 74725216 74727285 0.98 [{'connected_gene': 'XRRA1', 'score': 48.9}, {'connected_gene': 'RNF169', 'score': 11.54}, {'connected_gene': 'RPL31P46', 'score': 4.23}, {'connected_gene': 'MIR4696', 'score': 0.44}, {'connected_gene': 'CHRDL2', 'score': 0.44}]
chr11 GH11I074591 74591470 74593994 2.03 [{'connected_gene': 'POLD3', 'score': 566.24}, {'connected_gene': 'ENSG00000206913', 'score': 12.29}, {'connected_gene': 'RNF169', 'score': 12.01}, {'connected_gene': 'KCNE3', 'score': 10.6}, {'connected_gene': 'ENSG00000254928', 'score': 10.25}, {'connected_gene': 'SNORD15B', 'score': 9.87}, {'connected_gene': 'RN7SL239P', 'score': 9.8}, {'connected_gene': 'CHRDL2', 'score': 5.52}, {'connected_gene': 'LOC105369391', 'score': 4.27}, {'connected_gene': 'LOC105369386', 'score': 0.37}, {'connected_gene': 'GC11M074646', 'score': 0.23}]
chr11 GH11I074682 74682956 74684302 0.83 [{'connected_gene': 'RN7SKP297', 'score': 550.77}, {'connected_gene': 'RANP3', 'score': 12.14}, {'connected_gene': 'CHRDL2', 'score': 11.46}, {'connected_gene': 'KCNE3', 'score': 8.23}, {'connected_gene': 'ENSG00000255440', 'score': 4.02}, {'connected_gene': 'GC11P074653', 'score': 0.29}]
chr11 GH11I074615 74615289 74615840 0.72 [{'connected_gene': 'RANP3', 'score': 11.79}, {'connected_gene': 'CHRDL2', 'score': 5.53}, {'connected_gene': 'GC11M074646', 'score': 0.29}, {'connected_gene': 'LOC105369386', 'score': 0.28}, {'connected_gene': 'POLD3', 'score': 0.13}]
chr11 GH11I074716 74716986 74721813 0.97 [{'connected_gene': 'MIR4696', 'score': 550.77}, {'connected_gene': 'XRRA1', 'score': 36.45}, {'connected_gene': 'GC11M074716', 'score': 0.77}, {'connected_gene': 'CHRDL2', 'score': 0.39}]
chr11 GH11I074566 74566256 74567279 0.49 [{'connected_gene': 'KCNE3', 'score': 11.64}, {'connected_gene': 'ENSG00000254928', 'score': 11.63}, {'connected_gene': 'ENSG00000206913', 'score': 10.47}, {'connected_gene': 'PGM2L1', 'score': 10.32}, {'connected_gene': 'ENSG00000254631', 'score': 10.32}, {'connected_gene': 'CHRDL2', 'score': 5.57}, {'connected_gene': 'LOC105369386', 'score': 0.44}, {'connected_gene': 'POLD3', 'score': 0.19}]
chr11 GH11I074570 74570596 74571763 0.65 [{'connected_gene': 'KCNE3', 'score': 12.16}, {'connected_gene': 'ENSG00000254928', 'score': 12.14}, {'connected_gene': 'ENSG00000206913', 'score': 10.56}, {'connected_gene': 'CHRDL2', 'score': 5.52}, {'connected_gene': 'LOC105369386', 'score': 0.77}, {'connected_gene': 'POLD3', 'score': 0.18}]
chr11 GH11I074702 74702496 74702800 0.89 [{'connected_gene': 'ENSG00000279353', 'score': 0.77}, {'connected_gene': 'GC11M074716', 'score': 0.39}, {'connected_gene': 'CHRDL2', 'score': 0.31}]
chr11 GH11I074698 74698568 74700033 0.82 [{'connected_gene': 'ENSG00000279353', 'score': 550.77}, {'connected_gene': 'GC11M074700', 'score': 550.77}, {'connected_gene': 'XRRA1', 'score': 4.92}, {'connected_gene': 'CHRDL2', 'score': 0.29}]
chr11 GH11I074695 74695735 74698072 1.25 [{'connected_gene': 'GC11M074700', 'score': 550.77}, {'connected_gene': 'POLD3', 'score': 16.16}, {'connected_gene': 'ENSG00000206913', 'score': 12.28}, {'connected_gene': 'RNF169', 'score': 12.14}, {'connected_gene': 'SNORD15B', 'score': 9.87}, {'connected_gene': 'RN7SL239P', 'score': 9.84}, {'connected_gene': 'RPL31P46', 'score': 9.21}, {'connected_gene': 'XRRA1', 'score': 4.56}, {'connected_gene': 'PAAF1', 'score': 4.53}, {'connected_gene': 'RN7SKP297', 'score': 0.39}, {'connected_gene': 'CHRDL2', 'score': 0.29}]