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
ENST00000448521 [[44084238, 44084419], [44089823, 44089879], [44091428, 44091541], [44092465, 44092540], [44096355, 44096502], [44097380, 44097458], [44097727, 44097879], [44098030, 44098079], [44098500, 44098582], [44098952, 44099048], [44099141, 44099257], [44099646, 44099752], [44100375, 44100932]] [[44084336, 44084419], [44089823, 44089879], [44091428, 44091541], [44092465, 44092540], [44096355, 44096502], [44097380, 44097458], [44097727, 44097879], [44098030, 44098079], [44098500, 44098582], [44098952, 44099048], [44099141, 44099257], [44099646, 44099752], [44100375, 44100515]]
ENST00000456905 [[44084271, 44084419], [44089823, 44089879], [44091428, 44091541], [44092465, 44092540], [44097380, 44097458], [44097727, 44097879], [44098027, 44098079], [44098500, 44098582], [44098952, 44099048], [44099141, 44099257], [44099646, 44099752], [44100375, 44100542]] [[44084336, 44084419], [44089823, 44089879], [44091428, 44091541], [44092465, 44092540], [44097380, 44097458], [44097727, 44097879], [44098027, 44098079], [44098500, 44098582], [44098952, 44099048], [44099141, 44099257], [44099646, 44099752], [44100375, 44100515]]
ENST00000458579 [[44084273, 44084419], [44091428, 44091541], [44092465, 44092540], [44096355, 44096502], [44097380, 44097458], [44097571, 44097674]] [[44084336, 44084419], [44091428, 44091429]]
ENST00000439983 [[44084274, 44084419], [44089823, 44090293]] None
ENST00000440166 [[44084274, 44084419], [44092465, 44092540], [44096355, 44096502], [44097380, 44097458], [44097727, 44097879], [44098030, 44098079], [44098500, 44098582], [44098952, 44099048], [44099141, 44099257], [44099646, 44099752], [44100375, 44100744]] [[44092522, 44092540], [44096355, 44096502], [44097380, 44097458], [44097727, 44097879], [44098030, 44098079], [44098500, 44098582], [44098952, 44099048], [44099141, 44099257], [44099646, 44099752], [44100375, 44100515]]
ENST00000441840 [[44084284, 44084419], [44089823, 44089863], [44096338, 44096502], [44097380, 44097458], [44097727, 44097879], [44098027, 44098079], [44098500, 44098582], [44098952, 44099048], [44099141, 44099257], [44099646, 44099752], [44100375, 44101208]] [[44084336, 44084419], [44089823, 44089863], [44096338, 44096368]]
ENST00000464762 [[44084300, 44084419], [44089823, 44089879], [44091428, 44091541], [44092465, 44092550], [44096355, 44096502], [44097380, 44097458], [44097727, 44097822]] [[44084336, 44084419], [44089823, 44089879], [44091428, 44091541], [44092465, 44092550], [44096355, 44096405]]
ENST00000439815 [[44084300, 44084419], [44096355, 44096502], [44097380, 44097458], [44097727, 44097879], [44098027, 44098092]] [[44084336, 44084419], [44096355, 44096368]]
ENST00000498733 [[44084300, 44084465], [44089823, 44089879], [44091428, 44091541], [44092465, 44092540], [44096355, 44096502], [44097380, 44097458], [44097727, 44097879], [44098027, 44098079], [44098500, 44098582], [44098952, 44099048], [44099141, 44099257], [44099646, 44099752], [44100375, 44100538]] [[44084336, 44084465], [44089823, 44089841]]
ENST00000452943 [[44084300, 44084419], [44089823, 44089879], [44091428, 44091541], [44096355, 44096502], [44097380, 44097458], [44097727, 44097879], [44098027, 44098079], [44098500, 44098582], [44098952, 44099048], [44099141, 44099257], [44099646, 44099752], [44100375, 44100771]] [[44084336, 44084419], [44089823, 44089879], [44091428, 44091541], [44096355, 44096502], [44097380, 44097458], [44097727, 44097879], [44098027, 44098079], [44098500, 44098582], [44098952, 44099048], [44099141, 44099257], [44099646, 44099752], [44100375, 44100515]]
ENST00000485932 [[44084304, 44084441], [44089823, 44089879], [44096355, 44096502], [44097380, 44097458], [44097727, 44097862]] [[44084336, 44084441], [44089823, 44089841]]
ENST00000429716 [[44084306, 44084419], [44089823, 44089879], [44092465, 44092540], [44096355, 44096502], [44097380, 44097458], [44097727, 44097879], [44098030, 44098079], [44098500, 44098582], [44098952, 44099048], [44099141, 44099257], [44099646, 44099752], [44100375, 44100927]] [[44084336, 44084419], [44089823, 44089879], [44092465, 44092540], [44096355, 44096405]]
ENST00000468694 [[44084309, 44084419], [44089823, 44089879], [44091428, 44091541], [44092465, 44092540], [44096355, 44096502], [44097380, 44097458], [44097727, 44097879], [44098027, 44098079], [44098476, 44098582], [44098952, 44099048], [44099141, 44099257], [44099646, 44099752], [44100375, 44101236]] [[44084336, 44084419], [44089823, 44089879], [44091428, 44091541], [44092465, 44092540], [44096355, 44096502], [44097380, 44097458], [44097727, 44097879], [44098027, 44098079], [44098476, 44098582], [44098952, 44099048], [44099141, 44099257], [44099646, 44099752], [44100375, 44100515]]
ENST00000441904 [[44084315, 44084465], [44089823, 44089879], [44092465, 44092540], [44096355, 44096502], [44097380, 44097458], [44097727, 44097879], [44098030, 44098079], [44098500, 44098582], [44098952, 44099041]] [[44084336, 44084465], [44089823, 44089841]]
ENST00000494774 [[44084315, 44084419], [44089823, 44089879], [44091428, 44091541], [44092465, 44092540], [44096355, 44096502], [44097380, 44097458], [44097727, 44097879], [44098027, 44098079], [44098500, 44098582], [44098952, 44099048], [44099141, 44099257], [44099646, 44099752], [44100375, 44101315]] [[44084336, 44084419], [44089823, 44089879], [44091428, 44091541], [44092465, 44092540], [44096355, 44096502], [44097380, 44097458], [44097727, 44097879], [44098027, 44098079], [44098500, 44098582], [44098952, 44099048], [44099141, 44099257], [44099646, 44099752], [44100375, 44100515]]
ENST00000411855 [[44084318, 44084419], [44089823, 44089879], [44096355, 44096502], [44097380, 44097458], [44097727, 44097879], [44098027, 44098079], [44098500, 44098582], [44098952, 44099048], [44099141, 44099257], [44099646, 44099752], [44100375, 44100836]] [[44084336, 44084419], [44089823, 44089879], [44096355, 44096405]]
ENST00000490734 [[44084318, 44084419], [44089823, 44089879], [44096355, 44096502], [44097380, 44097458], [44097727, 44097879], [44098027, 44098079], [44098500, 44098582], [44098952, 44099048], [44099141, 44099257], [44099646, 44099752], [44100375, 44100836]] [[44089837, 44089879], [44096355, 44096502], [44097380, 44097458], [44097727, 44097879], [44098027, 44098079], [44098500, 44098582], [44098952, 44099048], [44099141, 44099257], [44099646, 44099752], [44100375, 44100515]]
ENST00000423561 [[44084328, 44084419], [44089823, 44089879], [44091428, 44091541], [44092465, 44092540], [44096355, 44096502], [44097380, 44097532]] None
ENST00000497184 [[44089482, 44091541], [44092465, 44092540], [44096355, 44096502], [44097380, 44097879], [44098030, 44098079], [44098500, 44098582], [44098952, 44099048], [44099141, 44099257], [44099646, 44099752], [44100375, 44101236]] None
ENST00000432854 [[44089842, 44089879], [44092465, 44092540], [44096355, 44096502], [44097380, 44097458], [44097727, 44097879], [44098030, 44098079], [44098500, 44098582], [44098952, 44099048], [44099141, 44099257], [44099646, 44099752], [44100375, 44109055]] [[44089842, 44089879], [44092465, 44092540], [44096355, 44096502], [44097380, 44097458], [44097727, 44097879], [44098030, 44098079], [44098500, 44098582], [44098952, 44099048], [44099141, 44099257], [44099646, 44099752], [44100375, 44100515]]
ENST00000449997 [[44096391, 44096502], [44097380, 44097458], [44097571, 44097591], [44097727, 44097879], [44098030, 44098582], [44098952, 44099048], [44099141, 44099257], [44099646, 44099752], [44100375, 44101313]] None
ENST00000452661 [[44098528, 44098582], [44099141, 44099257], [44099646, 44099752], [44100375, 44100996]] [[44098528, 44098582], [44099141, 44099257], [44099646, 44099752], [44100375, 44100515]]
NM_001284313 [[44084238, 44084419], [44092465, 44092540], [44096355, 44096502], [44097380, 44097458], [44097727, 44097879], [44098030, 44098079], [44098500, 44098582], [44098952, 44099048], [44099141, 44099257], [44099646, 44099752], [44100375, 44101315]] [[44092522, 44092540], [44096355, 44096502], [44097380, 44097458], [44097727, 44097879], [44098030, 44098079], [44098500, 44098582], [44098952, 44099048], [44099141, 44099257], [44099646, 44099752], [44100375, 44100515]]
NM_001284315 [[44084238, 44084419], [44089823, 44089879], [44096355, 44096502], [44097380, 44097458], [44097727, 44097879], [44098027, 44098079], [44098500, 44098582], [44098952, 44099048], [44099141, 44099257], [44099646, 44099752], [44100375, 44101315]] [[44089837, 44089879], [44096355, 44096502], [44097380, 44097458], [44097727, 44097879], [44098027, 44098079], [44098500, 44098582], [44098952, 44099048], [44099141, 44099257], [44099646, 44099752], [44100375, 44100515]]
NM_001014436 [[44084238, 44084419], [44089823, 44089879], [44091428, 44091541], [44092465, 44092540], [44096355, 44096502], [44097380, 44097458], [44097727, 44097879], [44098030, 44098079], [44098500, 44098582], [44098952, 44099048], [44099141, 44099257], [44099646, 44099752], [44100375, 44101315]] [[44084336, 44084419], [44089823, 44089879], [44091428, 44091541], [44092465, 44092540], [44096355, 44096502], [44097380, 44097458], [44097727, 44097879], [44098030, 44098079], [44098500, 44098582], [44098952, 44099048], [44099141, 44099257], [44099646, 44099752], [44100375, 44100515]]
NM_014063 [[44084238, 44084419], [44089823, 44089879], [44091428, 44091541], [44092465, 44092540], [44096355, 44096502], [44097380, 44097458], [44097727, 44097879], [44098027, 44098079], [44098500, 44098582], [44098952, 44099048], [44099141, 44099257], [44099646, 44099752], [44100375, 44101315]] [[44084336, 44084419], [44089823, 44089879], [44091428, 44091541], [44092465, 44092540], [44096355, 44096502], [44097380, 44097458], [44097727, 44097879], [44098027, 44098079], [44098500, 44098582], [44098952, 44099048], [44099141, 44099257], [44099646, 44099752], [44100375, 44100515]]
NM_001122956 [[44084238, 44084419], [44089823, 44089879], [44091428, 44091541], [44092465, 44092540], [44096355, 44096502], [44097380, 44097458], [44097727, 44097879], [44098027, 44098079], [44098476, 44098582], [44098952, 44099048], [44099141, 44099257], [44099646, 44099752], [44100375, 44101315]] [[44084336, 44084419], [44089823, 44089879], [44091428, 44091541], [44092465, 44092540], [44096355, 44096502], [44097380, 44097458], [44097727, 44097879], [44098027, 44098079], [44098476, 44098582], [44098952, 44099048], [44099141, 44099257], [44099646, 44099752], [44100375, 44100515]]
Promoter
Chrom Start End Description
chr7 44084233 44084244 CAGE_peak_2_at_DBNL_5end
chr7 44084262 44084332 CAGE_peak_1_at_DBNL_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr7 GH07I043693 43693001 43695623 1.3 [{'connected_gene': 'STK17A', 'score': 27.04}, {'connected_gene': 'BLVRA', 'score': 15.83}, {'connected_gene': 'COA1', 'score': 11.97}, {'connected_gene': 'MRPS24', 'score': 10.57}, {'connected_gene': 'LINC00957', 'score': 6.06}, {'connected_gene': 'DBNL', 'score': 1.74}, {'connected_gene': 'GC07M043624', 'score': 0.2}]
chr7 GH07I043615 43615213 43615576 0.61 [{'connected_gene': 'STK17A', 'score': 20.82}, {'connected_gene': 'BLVRA', 'score': 10.35}, {'connected_gene': 'POLM', 'score': 2.65}, {'connected_gene': 'DBNL', 'score': 2.33}, {'connected_gene': 'URGCP', 'score': 1.12}, {'connected_gene': 'PIR50622', 'score': 0.77}, {'connected_gene': 'GC07P043619', 'score': 0.77}, {'connected_gene': 'PIR39554', 'score': 0.44}, {'connected_gene': 'COA1', 'score': 0.14}]
chr7 GH07I043781 43781642 43783400 1.31 [{'connected_gene': 'STK17A', 'score': 13.98}, {'connected_gene': 'BLVRA', 'score': 10.77}, {'connected_gene': 'LINC00957', 'score': 5.72}, {'connected_gene': 'UBE2D4', 'score': 4.62}, {'connected_gene': 'DBNL', 'score': 1.7}, {'connected_gene': 'ENSG00000229497', 'score': 0.37}, {'connected_gene': 'PIR43622', 'score': 0.28}, {'connected_gene': 'LOC102724946', 'score': 0.22}]
chr7 GH07I043642 43642570 43652994 1.56 [{'connected_gene': 'STK17A', 'score': 28.08}, {'connected_gene': 'COA1', 'score': 23.66}, {'connected_gene': 'BLVRA', 'score': 15.77}, {'connected_gene': 'ENSG00000241057', 'score': 4.37}, {'connected_gene': 'DBNL', 'score': 1.93}, {'connected_gene': 'POLM', 'score': 1.5}, {'connected_gene': 'GC07M043624', 'score': 0.34}]
chr7 GH07I043628 43628224 43634508 1.09 [{'connected_gene': 'STK17A', 'score': 39.46}, {'connected_gene': 'COA1', 'score': 26.32}, {'connected_gene': 'BLVRA', 'score': 15.58}, {'connected_gene': 'DBNL', 'score': 2.87}, {'connected_gene': 'POLM', 'score': 1.42}, {'connected_gene': 'GC07M043624', 'score': 0.77}]
chr7 GH07I043749 43749854 43751400 1.34 [{'connected_gene': 'STK17A', 'score': 14.63}, {'connected_gene': 'COA1', 'score': 12.5}, {'connected_gene': 'BLVRA', 'score': 10.41}, {'connected_gene': 'DBNL', 'score': 1.17}, {'connected_gene': 'PIR57316', 'score': 0.37}]
chr7 GH07I043635 43635185 43638637 1.28 [{'connected_gene': 'COA1', 'score': 22.54}, {'connected_gene': 'STK17A', 'score': 16.15}, {'connected_gene': 'BLVRA', 'score': 9.85}, {'connected_gene': 'POLM', 'score': 2.92}, {'connected_gene': 'DBNL', 'score': 2.32}, {'connected_gene': 'URGCP', 'score': 1.27}, {'connected_gene': 'GC07M043624', 'score': 0.44}]
chr7 GH07I043567 43567439 43574000 1.62 [{'connected_gene': 'COA1', 'score': 21.57}, {'connected_gene': 'LUARIS', 'score': 11.5}, {'connected_gene': 'BLVRA', 'score': 10.34}, {'connected_gene': 'STK17A', 'score': 7.73}, {'connected_gene': 'DBNL', 'score': 2.8}]
chr7 GH07I043925 43925628 43927866 2.05 [{'connected_gene': 'URGCP', 'score': 550.77}, {'connected_gene': 'UBE2D4', 'score': 550.77}, {'connected_gene': 'POLM', 'score': 10.91}, {'connected_gene': 'RASA4CP', 'score': 6.33}, {'connected_gene': 'DBNL', 'score': 5.03}, {'connected_gene': 'PIR62464', 'score': 0.31}]
chr7 GH07I043876 43876014 43877378 0.51 [{'connected_gene': 'URGCP', 'score': 31.78}, {'connected_gene': 'POLM', 'score': 17.75}, {'connected_gene': 'ENSG00000239556', 'score': 14.46}, {'connected_gene': 'UBE2D4', 'score': 11.45}, {'connected_gene': 'COA1', 'score': 9.97}, {'connected_gene': 'RASA4CP', 'score': 8.99}, {'connected_gene': 'ENSG00000241057', 'score': 4.99}, {'connected_gene': 'DBNL', 'score': 4.85}, {'connected_gene': 'MRPS24', 'score': 0.44}, {'connected_gene': 'URGCP-MRPS24', 'score': 0.31}]
chr7 GH07I043903 43903784 43907341 2.17 [{'connected_gene': 'URGCP', 'score': 567.19}, {'connected_gene': 'URGCP-MRPS24', 'score': 550.77}, {'connected_gene': 'ENSG00000239556', 'score': 20.74}, {'connected_gene': 'POLM', 'score': 10.11}, {'connected_gene': 'RASA4CP', 'score': 9.89}, {'connected_gene': 'DBNL', 'score': 5.43}, {'connected_gene': 'MRPS24', 'score': 0.28}]
chr7 GH07I043605 43605274 43605424 0.64 [{'connected_gene': 'DDX56', 'score': 10.51}, {'connected_gene': 'DBNL', 'score': 2.44}, {'connected_gene': 'STK17A', 'score': 2.32}, {'connected_gene': 'POLM', 'score': 1.4}, {'connected_gene': 'PIR39554', 'score': 0.77}]
chr7 GH07I044063 44063503 44064607 0.63 [{'connected_gene': 'PGAM2', 'score': 550.77}, {'connected_gene': 'ENSG00000239775', 'score': 550.77}, {'connected_gene': 'RASA4CP', 'score': 31.45}, {'connected_gene': 'POLM', 'score': 14.92}, {'connected_gene': 'AEBP1', 'score': 11.19}, {'connected_gene': 'PIR32362', 'score': 0.77}, {'connected_gene': 'DBNL', 'score': 0.37}]
chr7 GH07I044064 44064862 44066423 1.16 [{'connected_gene': 'PGAM2', 'score': 550.77}, {'connected_gene': 'ENSG00000239775', 'score': 550.77}, {'connected_gene': 'POLM', 'score': 13.3}, {'connected_gene': 'LINC00957', 'score': 6.93}, {'connected_gene': 'DBNL', 'score': 4.76}]
chr7 GH07I044049 44049506 44049846 0.2 [{'connected_gene': 'RASA4CP', 'score': 8.93}, {'connected_gene': 'MIR6837', 'score': 0.77}, {'connected_gene': 'DBNL', 'score': 0.44}]
chr7 GH07I044043 44043706 44047823 2.54 [{'connected_gene': 'DBNL', 'score': 557.4}, {'connected_gene': 'POLM', 'score': 32.12}, {'connected_gene': 'RASA4CP', 'score': 31.14}, {'connected_gene': 'ENSG00000241057', 'score': 21.88}, {'connected_gene': 'ENSG00000239556', 'score': 20.87}, {'connected_gene': 'STK17A', 'score': 3.89}, {'connected_gene': 'MIR6837', 'score': 0.44}, {'connected_gene': 'LINC00957', 'score': 0.44}]
chr7 GH07I044094 44094542 44096171 0.77 [{'connected_gene': 'POLM', 'score': 8.94}, {'connected_gene': 'GCK', 'score': 5.37}, {'connected_gene': 'DBNL', 'score': 5.15}, {'connected_gene': 'AEBP1', 'score': 4.72}]
chr7 GH07I043890 43890452 43891867 0.58 [{'connected_gene': 'POLM', 'score': 10.06}, {'connected_gene': 'DBNL', 'score': 5.82}, {'connected_gene': 'URGCP-MRPS24', 'score': 0.37}, {'connected_gene': 'MRPS24', 'score': 0.34}, {'connected_gene': 'URGCP', 'score': 0.28}]
chr7 GH07I044058 44058212 44059911 0.83 [{'connected_gene': 'POLM', 'score': 23.38}, {'connected_gene': 'PIR32362', 'score': 0.77}, {'connected_gene': 'MIR6837', 'score': 0.44}, {'connected_gene': 'DBNL', 'score': 0.39}]
chr7 GH07I043619 43619216 43627941 1.2 [{'connected_gene': 'PIR42681', 'score': 550.77}, {'connected_gene': 'STK17A', 'score': 18.34}, {'connected_gene': 'COA1', 'score': 15.92}, {'connected_gene': 'MRPL32', 'score': 11.34}, {'connected_gene': 'DDX56', 'score': 11.04}, {'connected_gene': 'BLVRA', 'score': 9.55}, {'connected_gene': 'POLM', 'score': 6.59}, {'connected_gene': 'DBNL', 'score': 2.49}, {'connected_gene': 'GC07P043619', 'score': 0.77}, {'connected_gene': 'GC07M043624', 'score': 0.77}, {'connected_gene': 'PIR50622', 'score': 0.77}]
chr7 GH07I044065 44063102 44063159 0.57 [{'connected_gene': 'PIR32362', 'score': 550.77}, {'connected_gene': 'ENSG00000239775', 'score': 550.77}, {'connected_gene': 'AEBP1', 'score': 11.19}, {'connected_gene': 'PGAM2', 'score': 0.77}, {'connected_gene': 'DBNL', 'score': 0.37}]