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
ENST00000380518 [[48366747, 48367336], [48367871, 48368114], [48368457, 48368645], [48369099, 48369388], [48369745, 48369853], [48370296, 48370350], [48370594, 48370702], [48370884, 48370938], [48371102, 48371210], [48371382, 48371436], [48371792, 48371900], [48372073, 48372181], [48372379, 48372541], [48373293, 48373347], [48373791, 48373845], [48374336, 48374444], [48374697, 48374751], [48375125, 48375179], [48375558, 48375612], [48375889, 48375943], [48376284, 48376392], [48376630, 48376729], [48376875, 48376920], [48377167, 48377221], [48377465, 48377519], [48377869, 48377923], [48378328, 48378382], [48378777, 48378876], [48379316, 48379370], [48379510, 48379609], [48379694, 48379748], [48380118, 48380226], [48380617, 48380671], [48380860, 48380959], [48381051, 48381096], [48381393, 48381492], [48383010, 48383064], [48383543, 48383588], [48386660, 48386714], [48387240, 48387285], [48387591, 48387645], [48387776, 48387830], [48388206, 48388260], [48389037, 48389091], [48389492, 48389546], [48389657, 48389702], [48390330, 48390408], [48391388, 48391490], [48391653, 48391707], [48391814, 48391847], [48391951, 48391984], [48392197, 48392214], [48393701, 48393908], [48398019, 48398269]] [[48367189, 48367336], [48367871, 48368114], [48368457, 48368645], [48369099, 48369388], [48369745, 48369853], [48370296, 48370350], [48370594, 48370702], [48370884, 48370938], [48371102, 48371210], [48371382, 48371436], [48371792, 48371900], [48372073, 48372181], [48372379, 48372541], [48373293, 48373347], [48373791, 48373845], [48374336, 48374444], [48374697, 48374751], [48375125, 48375179], [48375558, 48375612], [48375889, 48375943], [48376284, 48376392], [48376630, 48376729], [48376875, 48376920], [48377167, 48377221], [48377465, 48377519], [48377869, 48377923], [48378328, 48378382], [48378777, 48378876], [48379316, 48379370], [48379510, 48379609], [48379694, 48379748], [48380118, 48380226], [48380617, 48380671], [48380860, 48380959], [48381051, 48381096], [48381393, 48381492], [48383010, 48383064], [48383543, 48383588], [48386660, 48386714], [48387240, 48387285], [48387591, 48387645], [48387776, 48387830], [48388206, 48388260], [48389037, 48389091], [48389492, 48389546], [48389657, 48389702], [48390330, 48390408], [48391388, 48391490], [48391653, 48391707], [48391814, 48391847], [48391951, 48391984], [48392197, 48392214], [48393701, 48393908], [48398019, 48398104]]
ENST00000493991 [[48366983, 48367336], [48367871, 48368114], [48368457, 48368645], [48369099, 48369388], [48369745, 48369853], [48370296, 48370350], [48370594, 48370702], [48370884, 48370938], [48371102, 48371210], [48371382, 48371436], [48371792, 48371900], [48372073, 48372181], [48372379, 48372541], [48373293, 48373347], [48373791, 48373845], [48374336, 48374444], [48374697, 48374751], [48375125, 48375179], [48375558, 48375612], [48375727, 48375943], [48376284, 48376392], [48376630, 48376729], [48376875, 48376920], [48377167, 48377221], [48377465, 48377519], [48377869, 48377923], [48378328, 48378382], [48378777, 48378876], [48379316, 48379370], [48379510, 48379609], [48379694, 48379748], [48380118, 48380226], [48380617, 48380671], [48380860, 48380959], [48381051, 48381096], [48381393, 48381492], [48382208, 48382254]] None
ENST00000337299 [[48367189, 48367336], [48367871, 48368114], [48368457, 48368645], [48369099, 48369388], [48369745, 48369853], [48370296, 48370350], [48370594, 48370702], [48370884, 48370938], [48371102, 48371210], [48371382, 48371436], [48371792, 48371900], [48372073, 48372181], [48372379, 48372541], [48373293, 48373347], [48373791, 48373845], [48374336, 48374444], [48374697, 48374751], [48375125, 48375179], [48375558, 48375612], [48375889, 48375943], [48376284, 48376392], [48376630, 48376729], [48376875, 48376920], [48377167, 48377221], [48377465, 48377519], [48377869, 48377923], [48378328, 48378382], [48378777, 48378876], [48379316, 48379370], [48379510, 48379609], [48379694, 48379748], [48380118, 48380226], [48380617, 48380671], [48380860, 48380959], [48381051, 48381096], [48381393, 48381492], [48383010, 48383064], [48383543, 48383588], [48386660, 48386714], [48387240, 48387285], [48387591, 48387645], [48387776, 48387830], [48388206, 48388260], [48389037, 48389091], [48389492, 48389546], [48389657, 48389702], [48390330, 48390408], [48391388, 48391490], [48391653, 48391707], [48391814, 48391847], [48391951, 48391984], [48392197, 48392214], [48398019, 48398104]] [[48367189, 48367336], [48367871, 48368114], [48368457, 48368645], [48369099, 48369388], [48369745, 48369853], [48370296, 48370350], [48370594, 48370702], [48370884, 48370938], [48371102, 48371210], [48371382, 48371436], [48371792, 48371900], [48372073, 48372181], [48372379, 48372541], [48373293, 48373347], [48373791, 48373845], [48374336, 48374444], [48374697, 48374751], [48375125, 48375179], [48375558, 48375612], [48375889, 48375943], [48376284, 48376392], [48376630, 48376729], [48376875, 48376920], [48377167, 48377221], [48377465, 48377519], [48377869, 48377923], [48378328, 48378382], [48378777, 48378876], [48379316, 48379370], [48379510, 48379609], [48379694, 48379748], [48380118, 48380226], [48380617, 48380671], [48380860, 48380959], [48381051, 48381096], [48381393, 48381492], [48383010, 48383064], [48383543, 48383588], [48386660, 48386714], [48387240, 48387285], [48387591, 48387645], [48387776, 48387830], [48388206, 48388260], [48389037, 48389091], [48389492, 48389546], [48389657, 48389702], [48390330, 48390408], [48391388, 48391490], [48391653, 48391707], [48391814, 48391847], [48391951, 48391984], [48392197, 48392214], [48398019, 48398104]]
ENST00000546974 [[48369135, 48369388], [48369745, 48369853], [48370296, 48370350], [48370594, 48370702], [48370884, 48370938], [48371102, 48371228]] None
ENST00000483376 [[48375125, 48375179], [48375558, 48375612], [48375889, 48375943], [48376284, 48376392], [48376630, 48376729], [48376875, 48376920], [48377167, 48377221], [48377465, 48377638]] None
ENST00000474996 [[48391397, 48391490], [48391653, 48391707], [48391814, 48391847], [48391951, 48391984], [48392197, 48392214], [48393701, 48393908], [48394767, 48394877], [48398019, 48398232]] None
ENST00000466884 [[48391951, 48391984], [48392197, 48392642]] None
ENST00000490609 [[48393479, 48393908], [48398019, 48398269]] None
ENST00000465743 [[48396404, 48396824], [48398019, 48398145]] None
NM_001844 [[48366747, 48367336], [48367871, 48368114], [48368457, 48368645], [48369099, 48369388], [48369745, 48369853], [48370296, 48370350], [48370594, 48370702], [48370884, 48370938], [48371102, 48371210], [48371382, 48371436], [48371792, 48371900], [48372073, 48372181], [48372379, 48372541], [48373293, 48373347], [48373791, 48373845], [48374336, 48374444], [48374697, 48374751], [48375125, 48375179], [48375558, 48375612], [48375889, 48375943], [48376284, 48376392], [48376630, 48376729], [48376875, 48376920], [48377167, 48377221], [48377465, 48377519], [48377869, 48377923], [48378328, 48378382], [48378777, 48378876], [48379316, 48379370], [48379510, 48379609], [48379694, 48379748], [48380118, 48380226], [48380617, 48380671], [48380860, 48380959], [48381051, 48381096], [48381393, 48381492], [48383010, 48383064], [48383543, 48383588], [48386660, 48386714], [48387240, 48387285], [48387591, 48387645], [48387776, 48387830], [48388206, 48388260], [48389037, 48389091], [48389492, 48389546], [48389657, 48389702], [48390330, 48390408], [48391388, 48391490], [48391653, 48391707], [48391814, 48391847], [48391951, 48391984], [48392197, 48392214], [48393701, 48393908], [48398019, 48398285]] [[48367189, 48367336], [48367871, 48368114], [48368457, 48368645], [48369099, 48369388], [48369745, 48369853], [48370296, 48370350], [48370594, 48370702], [48370884, 48370938], [48371102, 48371210], [48371382, 48371436], [48371792, 48371900], [48372073, 48372181], [48372379, 48372541], [48373293, 48373347], [48373791, 48373845], [48374336, 48374444], [48374697, 48374751], [48375125, 48375179], [48375558, 48375612], [48375889, 48375943], [48376284, 48376392], [48376630, 48376729], [48376875, 48376920], [48377167, 48377221], [48377465, 48377519], [48377869, 48377923], [48378328, 48378382], [48378777, 48378876], [48379316, 48379370], [48379510, 48379609], [48379694, 48379748], [48380118, 48380226], [48380617, 48380671], [48380860, 48380959], [48381051, 48381096], [48381393, 48381492], [48383010, 48383064], [48383543, 48383588], [48386660, 48386714], [48387240, 48387285], [48387591, 48387645], [48387776, 48387830], [48388206, 48388260], [48389037, 48389091], [48389492, 48389546], [48389657, 48389702], [48390330, 48390408], [48391388, 48391490], [48391653, 48391707], [48391814, 48391847], [48391951, 48391984], [48392197, 48392214], [48393701, 48393908], [48398019, 48398104]]
NM_033150 [[48366747, 48367336], [48367871, 48368114], [48368457, 48368645], [48369099, 48369388], [48369745, 48369853], [48370296, 48370350], [48370594, 48370702], [48370884, 48370938], [48371102, 48371210], [48371382, 48371436], [48371792, 48371900], [48372073, 48372181], [48372379, 48372541], [48373293, 48373347], [48373791, 48373845], [48374336, 48374444], [48374697, 48374751], [48375125, 48375179], [48375558, 48375612], [48375889, 48375943], [48376284, 48376392], [48376630, 48376729], [48376875, 48376920], [48377167, 48377221], [48377465, 48377519], [48377869, 48377923], [48378328, 48378382], [48378777, 48378876], [48379316, 48379370], [48379510, 48379609], [48379694, 48379748], [48380118, 48380226], [48380617, 48380671], [48380860, 48380959], [48381051, 48381096], [48381393, 48381492], [48383010, 48383064], [48383543, 48383588], [48386660, 48386714], [48387240, 48387285], [48387591, 48387645], [48387776, 48387830], [48388206, 48388260], [48389037, 48389091], [48389492, 48389546], [48389657, 48389702], [48390330, 48390408], [48391388, 48391490], [48391653, 48391707], [48391814, 48391847], [48391951, 48391984], [48392197, 48392214], [48398019, 48398285]] [[48367189, 48367336], [48367871, 48368114], [48368457, 48368645], [48369099, 48369388], [48369745, 48369853], [48370296, 48370350], [48370594, 48370702], [48370884, 48370938], [48371102, 48371210], [48371382, 48371436], [48371792, 48371900], [48372073, 48372181], [48372379, 48372541], [48373293, 48373347], [48373791, 48373845], [48374336, 48374444], [48374697, 48374751], [48375125, 48375179], [48375558, 48375612], [48375889, 48375943], [48376284, 48376392], [48376630, 48376729], [48376875, 48376920], [48377167, 48377221], [48377465, 48377519], [48377869, 48377923], [48378328, 48378382], [48378777, 48378876], [48379316, 48379370], [48379510, 48379609], [48379694, 48379748], [48380118, 48380226], [48380617, 48380671], [48380860, 48380959], [48381051, 48381096], [48381393, 48381492], [48383010, 48383064], [48383543, 48383588], [48386660, 48386714], [48387240, 48387285], [48387591, 48387645], [48387776, 48387830], [48388206, 48388260], [48389037, 48389091], [48389492, 48389546], [48389657, 48389702], [48390330, 48390408], [48391388, 48391490], [48391653, 48391707], [48391814, 48391847], [48391951, 48391984], [48392197, 48392214], [48398019, 48398104]]
Promoter
Chrom Start End Description
chr12 48398250 48398267 CAGE_peak_1_at_COL2A1_5end
chr12 48398282 48398296 CAGE_peak_2_at_COL2A1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr12 GH12I047962 47962958 47966297 2.19 [{'connected_gene': 'TMEM106C', 'score': 567.69}, {'connected_gene': 'ENSG00000279840', 'score': 550.77}, {'connected_gene': 'DDX23', 'score': 21.73}, {'connected_gene': 'CCNT1', 'score': 17.43}, {'connected_gene': 'RPL37P19', 'score': 14.64}, {'connected_gene': 'LOC390314', 'score': 13.3}, {'connected_gene': 'HDAC7', 'score': 12.91}, {'connected_gene': 'KANSL2', 'score': 12.59}, {'connected_gene': 'SENP1', 'score': 12.53}, {'connected_gene': 'COL2A1', 'score': 11.13}, {'connected_gene': 'ENSG00000205537', 'score': 10.18}, {'connected_gene': 'RAPGEF3', 'score': 9.67}, {'connected_gene': 'SLC48A1', 'score': 9.66}, {'connected_gene': 'ASB8', 'score': 9.56}, {'connected_gene': 'CCDC184', 'score': 9.56}, {'connected_gene': 'ZNF641', 'score': 5.52}, {'connected_gene': 'LOC105369752', 'score': 0.37}]
chr12 GH12I047991 47991052 47991067 0.2 [{'connected_gene': 'TMEM106C', 'score': 11.12}, {'connected_gene': 'VDR', 'score': 10.96}, {'connected_gene': 'LOC105369752', 'score': 0.39}, {'connected_gene': 'ENSG00000258203', 'score': 0.34}, {'connected_gene': 'COL2A1', 'score': 0.29}]
chr12 GH12I047990 47990398 47990547 0.56 [{'connected_gene': 'TMEM106C', 'score': 11.12}, {'connected_gene': 'VDR', 'score': 10.96}, {'connected_gene': 'LOC105369752', 'score': 0.44}, {'connected_gene': 'ENSG00000258203', 'score': 0.34}, {'connected_gene': 'COL2A1', 'score': 0.29}]
chr12 GH12I047959 47959834 47960500 0.2 [{'connected_gene': 'TMEM106C', 'score': 19.67}, {'connected_gene': 'COL2A1', 'score': 10.98}, {'connected_gene': 'ENSG00000205537', 'score': 10.65}, {'connected_gene': 'ASB8', 'score': 10.26}, {'connected_gene': 'CCDC184', 'score': 10.26}, {'connected_gene': 'ENSG00000279840', 'score': 0.77}, {'connected_gene': 'VDR', 'score': 0.37}]
chr12 GH12I048022 48021606 48021638 0.53 [{'connected_gene': 'VDR', 'score': 10.07}, {'connected_gene': 'ENSG00000205537', 'score': 9.18}, {'connected_gene': 'OR10AD1', 'score': 8.53}, {'connected_gene': 'ENSG00000257955', 'score': 0.77}, {'connected_gene': 'COL2A1', 'score': 0.77}, {'connected_gene': 'LOC105369750', 'score': 0.39}]
chr12 GH12I047960 47960598 47960747 0.2 [{'connected_gene': 'COL2A1', 'score': 10.98}, {'connected_gene': 'ENSG00000205537', 'score': 10.65}, {'connected_gene': 'ASB8', 'score': 10.26}, {'connected_gene': 'CCDC184', 'score': 10.26}, {'connected_gene': 'ENSG00000279840', 'score': 0.77}, {'connected_gene': 'VDR', 'score': 0.37}]
chr12 GH12I047954 47954818 47954967 0.51 [{'connected_gene': 'COL2A1', 'score': 10.97}, {'connected_gene': 'ENSG00000205537', 'score': 10.66}, {'connected_gene': 'ASB8', 'score': 10.26}, {'connected_gene': 'CCDC184', 'score': 10.26}, {'connected_gene': 'ENSG00000279840', 'score': 0.44}, {'connected_gene': 'VDR', 'score': 0.39}]
chr12 GH12I047953 47953941 47954664 0.63 [{'connected_gene': 'COL2A1', 'score': 10.97}, {'connected_gene': 'ENSG00000205537', 'score': 10.66}, {'connected_gene': 'ASB8', 'score': 10.26}, {'connected_gene': 'CCDC184', 'score': 10.26}, {'connected_gene': 'ZNF641', 'score': 5.12}, {'connected_gene': 'ENSG00000279840', 'score': 0.44}, {'connected_gene': 'VDR', 'score': 0.39}]
chr12 GH12I048004 48004198 48004347 1.06 [{'connected_gene': 'COL2A1', 'score': 550.34}, {'connected_gene': 'ZNF641', 'score': 15.22}, {'connected_gene': 'ENSG00000258203', 'score': 0.44}, {'connected_gene': 'LOC105369752', 'score': 0.34}]
chr12 GH12I048005 48004398 48004567 1.2 [{'connected_gene': 'COL2A1', 'score': 550.34}, {'connected_gene': 'ZNF641', 'score': 14.37}, {'connected_gene': 'ENSG00000258203', 'score': 0.44}, {'connected_gene': 'LOC105369752', 'score': 0.34}]
chr12 GH12I047992 47991798 47991947 0.38 [{'connected_gene': 'ZNF641', 'score': 7.3}, {'connected_gene': 'LOC105369752', 'score': 0.39}, {'connected_gene': 'ENSG00000258203', 'score': 0.37}, {'connected_gene': 'COL2A1', 'score': 0.29}]
chr12 GH12I047981 47981558 47981707 0.54 [{'connected_gene': 'LOC105369752', 'score': 550.77}, {'connected_gene': 'RPL37P19', 'score': 8.78}, {'connected_gene': 'ZNF641', 'score': 6.42}, {'connected_gene': 'TMEM106C', 'score': 5.92}, {'connected_gene': 'ENSG00000258203', 'score': 0.31}, {'connected_gene': 'COL2A1', 'score': 0.26}]
chr12 GH12I048021 48021838 48022199 0.95 [{'connected_gene': 'RPL37P19', 'score': 24.8}, {'connected_gene': 'KANSL2', 'score': 14.43}, {'connected_gene': 'CCNT1', 'score': 12.87}, {'connected_gene': 'SENP1', 'score': 12.54}, {'connected_gene': 'RPAP3', 'score': 11.92}, {'connected_gene': 'LOC390314', 'score': 11.74}, {'connected_gene': 'DDX23', 'score': 11.0}, {'connected_gene': 'VDR', 'score': 10.07}, {'connected_gene': 'ENSG00000205537', 'score': 9.18}, {'connected_gene': 'ENSG00000257955', 'score': 0.77}, {'connected_gene': 'COL2A1', 'score': 0.77}, {'connected_gene': 'LOC105369750', 'score': 0.39}]
chr12 GH12I047988 47988231 47989236 0.49 [{'connected_gene': 'RPL37P19', 'score': 16.4}, {'connected_gene': 'H1FNT', 'score': 15.04}, {'connected_gene': 'ZNF641', 'score': 6.92}, {'connected_gene': 'LOC105369752', 'score': 0.44}, {'connected_gene': 'ENSG00000258203', 'score': 0.34}, {'connected_gene': 'COL2A1', 'score': 0.28}]
chr12 GH12I048000 48000578 48003487 1.39 [{'connected_gene': 'RPL37P19', 'score': 19.66}, {'connected_gene': 'ZNF641', 'score': 15.89}, {'connected_gene': 'TMEM106C', 'score': 10.29}, {'connected_gene': 'OR5BK1P', 'score': 10.18}, {'connected_gene': 'COL2A1', 'score': 2.75}, {'connected_gene': 'ENSG00000258203', 'score': 0.44}, {'connected_gene': 'LOC105369752', 'score': 0.34}]
chr12 GH12I048006 48004598 48005664 0.72 [{'connected_gene': 'RPL37P19', 'score': 19.94}, {'connected_gene': 'ZNF641', 'score': 13.14}, {'connected_gene': 'OR5BK1P', 'score': 10.33}, {'connected_gene': 'ENSG00000258203', 'score': 0.44}, {'connected_gene': 'LOC105369752', 'score': 0.34}, {'connected_gene': 'COL2A1', 'score': 0.34}]
chr12 GH12I048023 48022718 48024227 0.72 [{'connected_gene': 'ENSG00000257955', 'score': 550.77}, {'connected_gene': 'COL2A1', 'score': 550.77}, {'connected_gene': 'ZNF641', 'score': 21.45}, {'connected_gene': 'LOC102725258', 'score': 6.8}, {'connected_gene': 'ENSG00000197376', 'score': 4.28}, {'connected_gene': 'LOC105369750', 'score': 0.39}]
chr12 GH12I048024 48022444 48022559 0.2 [{'connected_gene': 'ENSG00000257955', 'score': 0.77}, {'connected_gene': 'COL2A1', 'score': 0.77}, {'connected_gene': 'LOC105369750', 'score': 0.39}]
chr12 GH12I048003 48003878 48004167 0.52 [{'connected_gene': 'ENSG00000258203', 'score': 0.44}, {'connected_gene': 'LOC105369752', 'score': 0.34}, {'connected_gene': 'COL2A1', 'score': 0.34}]

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