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
ENST00000273980 [[106962755, 106967837], [107016638, 107016798], [107037359, 107037535], [107092251, 107092427], [107114765, 107114927], [107115874, 107115911], [107133906, 107133992], [107151519, 107151603], [107152885, 107152936], [107154094, 107154221], [107154744, 107154807], [107156425, 107156524], [107157546, 107157676], [107157915, 107157965], [107163626, 107163726], [107165782, 107165921], [107168295, 107168444], [107169401, 107169463], [107170077, 107170139], [107171574, 107171635], [107173022, 107173164], [107181593, 107181667], [107183254, 107183369], [107216250, 107216323], [107229924, 107230146], [107237704, 107237894], [107242423, 107242652]] [[106967726, 106967837], [107016638, 107016798], [107037359, 107037535], [107092251, 107092427], [107114765, 107114927], [107115874, 107115911], [107133906, 107133992], [107151519, 107151603], [107152885, 107152936], [107154094, 107154221], [107154744, 107154807], [107156425, 107156524], [107157546, 107157676], [107157915, 107157965], [107163626, 107163726], [107165782, 107165921], [107168295, 107168444], [107169401, 107169463], [107170077, 107170139], [107171574, 107171635], [107173022, 107173164], [107181593, 107181667], [107183254, 107183369], [107216250, 107216323], [107229924, 107230117]]
ENST00000432496 [[106967232, 106967837], [107016638, 107016798], [107037359, 107037535], [107092251, 107092427], [107114765, 107114927], [107115874, 107115911], [107133906, 107133992], [107151519, 107151603], [107152885, 107152936], [107154094, 107154221], [107154744, 107154807], [107156425, 107156524], [107157546, 107157676], [107157915, 107157965], [107163626, 107163726], [107165782, 107165921], [107168295, 107168444], [107169401, 107169463], [107170077, 107170139], [107171574, 107171635], [107173022, 107173164], [107181593, 107181667], [107183254, 107183369], [107216250, 107216323], [107229924, 107230146], [107237704, 107237861]] [[106967726, 106967837], [107016638, 107016798], [107037359, 107037535], [107092251, 107092427], [107114765, 107114927], [107115874, 107115911], [107133906, 107133992], [107151519, 107151603], [107152885, 107152936], [107154094, 107154221], [107154744, 107154807], [107156425, 107156524], [107157546, 107157676], [107157915, 107157965], [107163626, 107163726], [107165782, 107165921], [107168295, 107168444], [107169401, 107169463], [107170077, 107170139], [107171574, 107171635], [107173022, 107173164], [107181593, 107181667], [107183254, 107183369], [107216250, 107216323], [107229924, 107230117]]
ENST00000510927 [[106967235, 106967837], [107016638, 107016798], [107037359, 107037535], [107092251, 107092427], [107114765, 107114927], [107115874, 107115911], [107133906, 107133992], [107151519, 107151603], [107152885, 107152936], [107154094, 107154221], [107154744, 107154807], [107156425, 107156524], [107157546, 107157676], [107157915, 107157965], [107163626, 107163726], [107165782, 107165921], [107168295, 107168879]] None
ENST00000361687 [[106967236, 106967837], [107016638, 107016798], [107037359, 107037535], [107092251, 107092427], [107114765, 107114927], [107115874, 107115911], [107133906, 107133992], [107151519, 107151603], [107152885, 107152936], [107154094, 107154221], [107154744, 107154807], [107156425, 107156524], [107157546, 107157676], [107157915, 107157965], [107163626, 107163726], [107165782, 107165921], [107168295, 107168444], [107169401, 107169463], [107170077, 107170139], [107171574, 107171635], [107173022, 107173164], [107216250, 107216323], [107229924, 107230146], [107237087, 107237387]] [[106967726, 106967837], [107016638, 107016798], [107037359, 107037535], [107092251, 107092427], [107114765, 107114927], [107115874, 107115911], [107133906, 107133992], [107151519, 107151603], [107152885, 107152936], [107154094, 107154221], [107154744, 107154807], [107156425, 107156524], [107157546, 107157676], [107157915, 107157965], [107163626, 107163726], [107165782, 107165921], [107168295, 107168444], [107169401, 107169463], [107170077, 107170139], [107171574, 107171635], [107173022, 107173164], [107216250, 107216323], [107229924, 107230117]]
ENST00000394706 [[106967247, 106967837], [107016638, 107016798], [107037359, 107037535], [107092251, 107092427], [107114765, 107114927], [107115874, 107115911], [107133906, 107133992], [107151519, 107151603], [107152885, 107152936], [107154094, 107154221], [107154744, 107154807], [107156425, 107156524], [107157546, 107157676], [107157915, 107157965], [107163626, 107163726], [107165782, 107165921], [107168295, 107168444], [107169401, 107169463], [107170077, 107170139], [107171574, 107171635], [107173139, 107173164], [107181593, 107181667], [107183254, 107183369], [107216250, 107216323], [107229924, 107230146], [107237087, 107237363]] [[106967726, 106967837], [107016638, 107016798], [107037359, 107037535], [107092251, 107092427], [107114765, 107114927], [107115874, 107115911], [107133906, 107133992], [107151519, 107151603], [107152885, 107152936], [107154094, 107154221], [107154744, 107154807], [107156425, 107156524], [107157546, 107157676], [107157915, 107157965], [107163626, 107163726], [107165782, 107165921], [107168295, 107168444], [107169401, 107169463], [107170077, 107170139], [107171574, 107171635], [107173139, 107173164], [107181593, 107181667], [107183254, 107183369], [107216250, 107216323], [107229924, 107230117]]
ENST00000467183 [[106967251, 106967837], [107016638, 107016798], [107037359, 107037535], [107092251, 107092427], [107114765, 107114927], [107115874, 107115911], [107133906, 107133992], [107151519, 107151603], [107152885, 107152936], [107154094, 107154221], [107154744, 107154807], [107156425, 107156524], [107157546, 107157676], [107157915, 107157965], [107163626, 107163726], [107165782, 107165921], [107168295, 107168444], [107169401, 107169463], [107170077, 107170139], [107171574, 107171635], [107173022, 107173164], [107176103, 107176204], [107181593, 107181667], [107183254, 107183369], [107216250, 107216323], [107229924, 107230146], [107237087, 107237366]] [[107176197, 107176204], [107181593, 107181667], [107183254, 107183369], [107216250, 107216323], [107229924, 107230117]]
ENST00000394708 [[106967726, 106967837], [107016638, 107016798], [107037359, 107037535], [107092251, 107092427], [107114765, 107114927], [107115874, 107115911], [107133906, 107133992], [107151519, 107151603], [107152885, 107152936], [107154094, 107154221], [107154744, 107154807], [107156425, 107156524], [107157546, 107157676], [107157915, 107157965], [107163626, 107163726], [107165782, 107165921], [107168295, 107168444], [107169401, 107169463], [107170077, 107170139], [107171574, 107171635], [107173022, 107173164], [107181593, 107181667], [107183254, 107183369], [107216250, 107216323], [107229924, 107230146], [107237087, 107237423]] [[106967726, 106967837], [107016638, 107016798], [107037359, 107037535], [107092251, 107092427], [107114765, 107114927], [107115874, 107115911], [107133906, 107133992], [107151519, 107151603], [107152885, 107152936], [107154094, 107154221], [107154744, 107154807], [107156425, 107156524], [107157546, 107157676], [107157915, 107157965], [107163626, 107163726], [107165782, 107165921], [107168295, 107168444], [107169401, 107169463], [107170077, 107170139], [107171574, 107171635], [107173022, 107173164], [107181593, 107181667], [107183254, 107183369], [107216250, 107216323], [107229924, 107230117]]
ENST00000514689 [[107037359, 107037535], [107092251, 107092427], [107114765, 107114927], [107133906, 107133992], [107134772, 107134875]] None
ENST00000515705 [[107037475, 107037535], [107092251, 107092427], [107114765, 107114927], [107115874, 107115911], [107133906, 107133992], [107134857, 107134928]] None
ENST00000506384 [[107084435, 107084783], [107085548, 107085618], [107092251, 107092397]] None
ENST00000506280 [[107173023, 107173164], [107176103, 107176204], [107181593, 107181667], [107183254, 107183369], [107216250, 107216323], [107218868, 107218896]] None
ENST00000509532 [[107173140, 107173164], [107181593, 107181667], [107183254, 107183369], [107216250, 107216323], [107229924, 107230146], [107237083, 107237423]] [[107173140, 107173164], [107181593, 107181667], [107183254, 107183369], [107216250, 107216323], [107229924, 107230117]]
ENST00000509862 [[107183320, 107183369], [107216250, 107216323], [107229924, 107230146], [107231489, 107231745]] [[107183320, 107183369], [107216250, 107216323], [107229924, 107230117]]
ENST00000507696 [[107216312, 107216323], [107229924, 107230146], [107231083, 107231124], [107237087, 107237392]] [[107216312, 107216323], [107229924, 107230117]]
ENST00000511011 [[107092397, 107092427], [107114765, 107114927], [107115874, 107115911], [107133906, 107133992], [107134510, 107134755]] None
ENST00000506615 [[107103509, 107103770], [107114765, 107114927], [107133906, 107133992], [107151519, 107151603]] None
ENST00000508666 [[107154100, 107154221], [107154744, 107154807], [107156425, 107156524], [107157546, 107157676], [107157915, 107157965], [107158647, 107158695], [107163626, 107163726], [107165782, 107165921], [107168295, 107168442]] [[107158662, 107158695], [107163626, 107163726], [107165782, 107165921], [107168295, 107168442]]
ENST00000503516 [[107154154, 107154221], [107154744, 107154807], [107156425, 107156524], [107157546, 107157676], [107157915, 107157965], [107158647, 107158695], [107159753, 107159897]] [[107154154, 107154221], [107154744, 107154807], [107156425, 107156464]]
ENST00000505574 [[107165841, 107165921], [107168295, 107168444], [107171574, 107171627]] [[107168424, 107168444], [107171574, 107171627]]
ENST00000503832 [[107168979, 107169463], [107170077, 107170139], [107171574, 107171635], [107172235, 107172351], [107173022, 107173164]] [[107172237, 107172351], [107173022, 107173164]]
NM_001290768 [[106965473, 106967837], [107016638, 107016798], [107037359, 107037535], [107092251, 107092427], [107114765, 107114927], [107115874, 107115911], [107133906, 107133992], [107151519, 107151603], [107152885, 107152936], [107154094, 107154221], [107154744, 107154807], [107156425, 107156524], [107157546, 107157676], [107157915, 107157965], [107163626, 107163726], [107165782, 107165921], [107168295, 107168444], [107169401, 107169463], [107170077, 107170139], [107171574, 107171635], [107173022, 107173164], [107176103, 107176204], [107181593, 107181667], [107183254, 107183369], [107216250, 107216323], [107229924, 107230146], [107237087, 107237423]] [[106967726, 106967837], [107016638, 107016798], [107037359, 107037535], [107092251, 107092427], [107114765, 107114927], [107115874, 107115911], [107133906, 107133992], [107151519, 107151603], [107152885, 107152936], [107154094, 107154221], [107154744, 107154807], [107156425, 107156524], [107157546, 107157676], [107157915, 107157965], [107163626, 107163726], [107165782, 107165921], [107168295, 107168444], [107169401, 107169463], [107170077, 107170139], [107171574, 107171635], [107173022, 107173103]]
NM_001163435 [[106965473, 106967837], [107016638, 107016798], [107037359, 107037535], [107092251, 107092427], [107114765, 107114927], [107115874, 107115911], [107133906, 107133992], [107151519, 107151603], [107152885, 107152936], [107154094, 107154221], [107154744, 107154807], [107156425, 107156524], [107157546, 107157676], [107157915, 107157965], [107163626, 107163726], [107165782, 107165921], [107168295, 107168444], [107169401, 107169463], [107170077, 107170139], [107171574, 107171635], [107173022, 107173164], [107181593, 107181667], [107183254, 107183369], [107216250, 107216323], [107229924, 107230146], [107237087, 107237423]] [[106967726, 106967837], [107016638, 107016798], [107037359, 107037535], [107092251, 107092427], [107114765, 107114927], [107115874, 107115911], [107133906, 107133992], [107151519, 107151603], [107152885, 107152936], [107154094, 107154221], [107154744, 107154807], [107156425, 107156524], [107157546, 107157676], [107157915, 107157965], [107163626, 107163726], [107165782, 107165921], [107168295, 107168444], [107169401, 107169463], [107170077, 107170139], [107171574, 107171635], [107173022, 107173164], [107181593, 107181667], [107183254, 107183369], [107216250, 107216323], [107229924, 107230117]]
NM_001163437 [[106965473, 106967837], [107016638, 107016798], [107037359, 107037535], [107092251, 107092427], [107114765, 107114927], [107115874, 107115911], [107133906, 107133992], [107151519, 107151603], [107152885, 107152936], [107154094, 107154221], [107154744, 107154807], [107156425, 107156524], [107157546, 107157676], [107157915, 107157965], [107163626, 107163726], [107165782, 107165921], [107168295, 107168444], [107169401, 107169463], [107170077, 107170139], [107171574, 107171635], [107173139, 107173164], [107181593, 107181667], [107183254, 107183369], [107216250, 107216323], [107229924, 107230146], [107237087, 107237423]] [[106967726, 106967837], [107016638, 107016798], [107037359, 107037535], [107092251, 107092427], [107114765, 107114927], [107115874, 107115911], [107133906, 107133992], [107151519, 107151603], [107152885, 107152936], [107154094, 107154221], [107154744, 107154807], [107156425, 107156524], [107157546, 107157676], [107157915, 107157965], [107163626, 107163726], [107165782, 107165921], [107168295, 107168444], [107169401, 107169463], [107170077, 107170139], [107171574, 107171635], [107173139, 107173164], [107181593, 107181667], [107183254, 107183369], [107216250, 107216323], [107229924, 107230117]]
NM_033115 [[106965473, 106967837], [107016638, 107016798], [107037359, 107037535], [107092251, 107092427], [107114765, 107114927], [107115874, 107115911], [107133906, 107133992], [107151519, 107151603], [107152885, 107152936], [107154094, 107154221], [107154744, 107154807], [107156425, 107156524], [107157546, 107157676], [107157915, 107157965], [107163626, 107163726], [107165782, 107165921], [107168295, 107168444], [107169401, 107169463], [107170077, 107170139], [107171574, 107171635], [107173022, 107173164], [107216250, 107216323], [107229924, 107230146], [107237087, 107237423]] [[106967726, 106967837], [107016638, 107016798], [107037359, 107037535], [107092251, 107092427], [107114765, 107114927], [107115874, 107115911], [107133906, 107133992], [107151519, 107151603], [107152885, 107152936], [107154094, 107154221], [107154744, 107154807], [107156425, 107156524], [107157546, 107157676], [107157915, 107157965], [107163626, 107163726], [107165782, 107165921], [107168295, 107168444], [107169401, 107169463], [107170077, 107170139], [107171574, 107171635], [107173022, 107173164], [107216250, 107216323], [107229924, 107230117]]
NM_001163436 [[106965473, 106967837], [107016638, 107016798], [107037359, 107037535], [107092251, 107092427], [107114765, 107114927], [107115874, 107115911], [107133906, 107133992], [107151519, 107151603], [107152885, 107152936], [107154094, 107154221], [107154744, 107154807], [107156425, 107156524], [107157546, 107157676], [107157915, 107157965], [107163626, 107163726], [107165782, 107165921], [107168295, 107168444], [107169401, 107169463], [107170077, 107170139], [107171574, 107171635], [107173022, 107173164], [107181593, 107181667], [107183254, 107183369], [107216250, 107216323], [107229924, 107230146], [107237704, 107237861]] [[106967726, 106967837], [107016638, 107016798], [107037359, 107037535], [107092251, 107092427], [107114765, 107114927], [107115874, 107115911], [107133906, 107133992], [107151519, 107151603], [107152885, 107152936], [107154094, 107154221], [107154744, 107154807], [107156425, 107156524], [107157546, 107157676], [107157915, 107157965], [107163626, 107163726], [107165782, 107165921], [107168295, 107168444], [107169401, 107169463], [107170077, 107170139], [107171574, 107171635], [107173022, 107173164], [107181593, 107181667], [107183254, 107183369], [107216250, 107216323], [107229924, 107230117]]
Promoter
Chrom Start End Description
chr4 107237322 107237333 CAGE_peak_3_at_TBCK_5end
chr4 107237340 107237371 CAGE_peak_1_at_TBCK_5end
chr4 107237374 107237428 CAGE_peak_2_at_TBCK_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I106314 106314387 106318430 2.26 [{'connected_gene': 'TBCK', 'score': 558.34}, {'connected_gene': 'AIMP1', 'score': 550.77}, {'connected_gene': 'NPNT', 'score': 4.33}]
chr4 GH04I106343 106343837 106345504 0.67 [{'connected_gene': 'TBCK', 'score': 19.15}, {'connected_gene': 'AIMP1', 'score': 11.27}, {'connected_gene': 'GC04P106329', 'score': 0.39}, {'connected_gene': 'GIMD1', 'score': 0.34}]
chr4 GH04I106334 106334324 106335323 0.31 [{'connected_gene': 'TBCK', 'score': 8.25}, {'connected_gene': 'GC04P106329', 'score': 0.77}, {'connected_gene': 'AIMP1', 'score': 0.37}, {'connected_gene': 'GIMD1', 'score': 0.29}]
chr4 GH04I106358 106358693 106359551 0.38 [{'connected_gene': 'TBCK', 'score': 10.72}, {'connected_gene': 'AIMP1', 'score': 10.7}, {'connected_gene': 'GIMD1', 'score': 0.44}, {'connected_gene': 'GC04P106329', 'score': 0.31}]
chr4 GH04I106266 106266200 106266600 0.69 [{'connected_gene': 'TBCK', 'score': 16.98}, {'connected_gene': 'AIMP1', 'score': 10.68}, {'connected_gene': 'GC04M106256', 'score': 0.37}, {'connected_gene': 'GC04M106235', 'score': 0.31}]
chr4 GH04I106260 106260426 106265693 0.81 [{'connected_gene': 'TBCK', 'score': 18.67}, {'connected_gene': 'AIMP1', 'score': 10.67}, {'connected_gene': 'GC04M106256', 'score': 0.34}, {'connected_gene': 'GC04M106235', 'score': 0.31}]
chr4 GH04I106301 106301088 106302968 0.46 [{'connected_gene': 'TBCK', 'score': 8.69}, {'connected_gene': 'AIMP1', 'score': 0.39}, {'connected_gene': 'GC04M106256', 'score': 0.37}]
chr4 GH04I105920 105920393 105920780 0.23 [{'connected_gene': 'TBCK', 'score': 1.26}, {'connected_gene': 'ENSG00000250740', 'score': 0.39}, {'connected_gene': 'INTS12', 'score': 0.34}, {'connected_gene': 'NPNT', 'score': 0.31}]
chr4 GH04I106311 106311859 106313824 1.02 [{'connected_gene': 'TBCK', 'score': 8.32}, {'connected_gene': 'NPNT', 'score': 4.32}, {'connected_gene': 'AIMP1', 'score': 0.77}, {'connected_gene': 'GC04M106256', 'score': 0.31}]
chr4 GH04I106310 106310446 106311445 0.31 [{'connected_gene': 'TBCK', 'score': 8.28}, {'connected_gene': 'NPNT', 'score': 5.02}, {'connected_gene': 'INTS12', 'score': 4.37}, {'connected_gene': 'AIMP1', 'score': 0.77}, {'connected_gene': 'GC04M106256', 'score': 0.31}]
chr4 GH04I106032 106032307 106035122 0.2 [{'connected_gene': 'TBCK', 'score': 6.94}, {'connected_gene': 'NPNT', 'score': 4.4}, {'connected_gene': 'GC04M106042', 'score': 0.44}, {'connected_gene': 'LOC101929577', 'score': 0.39}]
chr4 GH04I106244 106244590 106246309 0.49 [{'connected_gene': 'TBCK', 'score': 8.04}, {'connected_gene': 'NPNT', 'score': 4.33}, {'connected_gene': 'GC04M106235', 'score': 0.44}, {'connected_gene': 'GC04M106256', 'score': 0.28}]
chr4 GH04I106019 106019286 106020730 0.31 [{'connected_gene': 'TBCK', 'score': 5.3}, {'connected_gene': 'LOC101929577', 'score': 0.77}, {'connected_gene': 'ENSG00000250740', 'score': 0.17}]
chr4 GH04I106037 106037004 106037153 0.88 [{'connected_gene': 'TBCK', 'score': 8.18}, {'connected_gene': 'GC04M106042', 'score': 0.44}, {'connected_gene': 'LOC101929577', 'score': 0.39}]
chr4 GH04I106120 106120201 106120400 0.31 [{'connected_gene': 'TBCK', 'score': 6.92}, {'connected_gene': 'GC04P106124', 'score': 0.77}, {'connected_gene': 'GC04M106073', 'score': 0.34}]
chr4 GH04I106286 106286441 106288685 1.15 [{'connected_gene': 'AIMP1', 'score': 10.85}, {'connected_gene': 'TBCK', 'score': 10.83}, {'connected_gene': 'GC04M106256', 'score': 0.77}]
chr4 GH04I105707 105707230 105711253 2.15 [{'connected_gene': 'GSTCD', 'score': 604.06}, {'connected_gene': 'INTS12', 'score': 568.23}, {'connected_gene': 'LOC101929577', 'score': 54.73}, {'connected_gene': 'TBCK', 'score': 44.36}, {'connected_gene': 'EEF1A1P9', 'score': 21.37}, {'connected_gene': 'AIMP1', 'score': 18.47}, {'connected_gene': 'LOC101929529', 'score': 11.76}, {'connected_gene': 'TET2', 'score': 9.93}, {'connected_gene': 'ARHGEF38', 'score': 0.1}]
chr4 GH04I107035 107035201 107037200 1.45 [{'connected_gene': 'DKK2', 'score': 550.07}, {'connected_gene': 'TBCK', 'score': 16.64}, {'connected_gene': 'GC04P106971', 'score': 0.21}, {'connected_gene': 'VN1R22P', 'score': 0.15}]
chr4 GH04I105637 105637601 105637800 0.84 [{'connected_gene': 'LOC101929577', 'score': 43.36}, {'connected_gene': 'GSTCD', 'score': 42.29}, {'connected_gene': 'TBCK', 'score': 26.89}, {'connected_gene': 'LOC105377352', 'score': 10.81}, {'connected_gene': 'ARHGEF38', 'score': 10.81}, {'connected_gene': 'AIMP1', 'score': 9.88}, {'connected_gene': 'ENSG00000248778', 'score': 0.26}, {'connected_gene': 'ARHGEF38-IT1', 'score': 0.18}]
chr4 GH04I106326 106326646 106329616 0.43 [{'connected_gene': 'GC04P106329', 'score': 550.77}, {'connected_gene': 'TBCK', 'score': 8.29}, {'connected_gene': 'AIMP1', 'score': 0.39}]
chr4 GH04I106048 106048704 106048853 0.2 [{'connected_gene': 'GC04M106042', 'score': 0.44}, {'connected_gene': 'GC04M106063', 'score': 0.37}, {'connected_gene': 'TBCK', 'score': 0.06}]
chr4 GH04I106160 106160201 106160400 0.2 [{'connected_gene': 'GC04P106172', 'score': 0.39}, {'connected_gene': 'GC04P106124', 'score': 0.28}, {'connected_gene': 'TBCK', 'score': 0.1}]
chr4 GH04I106238 106238504 106239298 0.57 [{'connected_gene': 'GC04M106235', 'score': 0.77}, {'connected_gene': 'GC04P106235', 'score': 0.77}, {'connected_gene': 'GC04M106256', 'score': 0.25}, {'connected_gene': 'TBCK', 'score': 0.18}]
chr4 GH04I106195 106195049 106195844 0.2 [{'connected_gene': 'GC04P106172', 'score': 0.34}, {'connected_gene': 'GC04P106235', 'score': 0.26}, {'connected_gene': 'TBCK', 'score': 0.13}]

© 2018 bmi.sjtu.edu.cn. All rights reserved.
浙ICP备18030141号.