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
ENST00000433647 [[42530790, 42531170], [42554242, 42554441], [42555240, 42555346], [42560714, 42560822], [42567378, 42567485], [42568884, 42568988], [42569482, 42569615], [42572270, 42572424], [42572962, 42573023], [42573294, 42573361], [42573733, 42573825], [42576466, 42576596], [42576834, 42576876], [42577581, 42579059]] [[42555285, 42555346], [42560714, 42560822], [42567378, 42567485], [42568884, 42568988], [42569482, 42569615], [42572270, 42572424], [42572962, 42573023], [42573294, 42573361], [42573733, 42573825], [42576466, 42576596], [42576834, 42576876], [42577581, 42577773]]
ENST00000473495 [[42530971, 42531170], [42541535, 42541908]] None
ENST00000490161 [[42530974, 42531170], [42533819, 42534022], [42541535, 42541638]] None
ENST00000487545 [[42530985, 42531170], [42555240, 42555346], [42560714, 42560806]] None
ENST00000450274 [[42543403, 42543721], [42555240, 42555346], [42560714, 42560822], [42567378, 42567485], [42568884, 42568988]] [[42555285, 42555346], [42560714, 42560822], [42567378, 42567485], [42568884, 42568988]]
ENST00000436487 [[42544103, 42544305], [42560714, 42560822], [42567378, 42567485], [42568887, 42568988], [42569482, 42569615], [42572270, 42572424], [42572962, 42573023], [42573294, 42573361], [42573733, 42573802]] [[42544227, 42544305], [42560714, 42560774]]
ENST00000543411 [[42544103, 42544305], [42560714, 42560822], [42567378, 42567485], [42568887, 42568988], [42569482, 42569615], [42572270, 42572424], [42572962, 42573023], [42573294, 42573361], [42573733, 42573825], [42576466, 42576596], [42576834, 42576876], [42577581, 42577886]] [[42544262, 42544305], [42560714, 42560822], [42567378, 42567485], [42568887, 42568988], [42569482, 42569615], [42572270, 42572424], [42572962, 42573023], [42573294, 42573361], [42573733, 42573825], [42576466, 42576596], [42576834, 42576876], [42577581, 42577773]]
ENST00000443646 [[42544103, 42544305], [42560714, 42560822], [42567378, 42567485], [42568884, 42568988], [42569482, 42569615], [42572270, 42572424], [42572962, 42573023], [42573294, 42573361], [42573733, 42573825], [42576466, 42576596], [42576834, 42576876], [42577581, 42577886]] [[42544227, 42544305], [42560714, 42560774]]
ENST00000438259 [[42544108, 42544305], [42560714, 42560822], [42567378, 42567485], [42572270, 42572404], [42572962, 42573023], [42573294, 42573361], [42573733, 42573825], [42576466, 42576596], [42576834, 42576876], [42577581, 42578036]] [[42567459, 42567485], [42572270, 42572404], [42572962, 42573023], [42573294, 42573361], [42573733, 42573825], [42576466, 42576596], [42576834, 42576876], [42577581, 42577773]]
ENST00000439910 [[42544108, 42544305], [42560714, 42560822], [42567378, 42567485], [42572270, 42572404], [42572962, 42573023], [42573294, 42573361], [42573733, 42573825], [42576466, 42576596], [42576834, 42576876], [42577581, 42578036]] [[42544227, 42544305], [42560714, 42560774]]
ENST00000439731 [[42544114, 42544305], [42555240, 42555346], [42560714, 42560822], [42567378, 42567485], [42568884, 42568988], [42572270, 42572424]] [[42544227, 42544305], [42555240, 42555346], [42560714, 42560822], [42567378, 42567485], [42568884, 42568988], [42572270, 42572424]]
ENST00000325123 [[42544114, 42544305], [42555240, 42555346], [42560714, 42560822], [42567378, 42567485], [42568884, 42568988], [42569482, 42569615], [42572270, 42572424], [42572962, 42573023], [42573294, 42573361], [42573733, 42573825], [42576466, 42576596], [42576834, 42576876], [42577581, 42579059]] [[42544227, 42544305], [42555240, 42555346], [42560714, 42560822], [42567378, 42567485], [42568884, 42568988], [42569482, 42569615], [42572270, 42572424], [42572962, 42573023], [42573294, 42573361], [42573733, 42573825], [42576466, 42576596], [42576834, 42576876], [42577581, 42577773]]
ENST00000446673 [[42544155, 42544305], [42560714, 42560822], [42567378, 42567485], [42568884, 42568988], [42569482, 42569615], [42572962, 42573023], [42573294, 42573361], [42573733, 42573825]] [[42544227, 42544305], [42560714, 42560774]]
ENST00000473575 [[42555290, 42555346], [42560714, 42560822], [42567378, 42567485], [42568884, 42569391]] None
ENST00000495189 [[42569144, 42569615], [42572270, 42572389]] None
ENST00000465338 [[42571225, 42571743], [42572270, 42572424], [42572962, 42573018]] None
ENST00000498102 [[42574357, 42576596], [42576834, 42576876], [42577581, 42579059]] None
NM_001251882 [[42530790, 42531170], [42554242, 42554441], [42555240, 42555346], [42560714, 42560822], [42567378, 42567485], [42568884, 42568988], [42569482, 42569615], [42572270, 42572424], [42572962, 42573023], [42573294, 42573361], [42573733, 42573825], [42576466, 42576596], [42576834, 42576876], [42577581, 42579065]] [[42555285, 42555346], [42560714, 42560822], [42567378, 42567485], [42568884, 42568988], [42569482, 42569615], [42572270, 42572424], [42572962, 42573023], [42573294, 42573361], [42573733, 42573825], [42576466, 42576596], [42576834, 42576876], [42577581, 42577773]]
NM_001251885 [[42544103, 42544276], [42555257, 42555346], [42560714, 42560822], [42567378, 42567485], [42568884, 42568988], [42569482, 42569615], [42572270, 42572424], [42572962, 42573023], [42573294, 42573361], [42573733, 42573825], [42576466, 42576596], [42576834, 42576876], [42577581, 42579065]] [[42544262, 42544276], [42555257, 42555346], [42560714, 42560822], [42567378, 42567485], [42568884, 42568988], [42569482, 42569615], [42572270, 42572424], [42572962, 42573023], [42573294, 42573361], [42573733, 42573825], [42576466, 42576596], [42576834, 42576876], [42577581, 42577773]]
NM_001251883 [[42544103, 42544305], [42560714, 42560822], [42567378, 42567485], [42572270, 42572404], [42572962, 42573023], [42573294, 42573361], [42573733, 42573825], [42576466, 42576596], [42576834, 42576876], [42577581, 42579065]] [[42567459, 42567485], [42572270, 42572404], [42572962, 42573023], [42573294, 42573361], [42573733, 42573825], [42576466, 42576596], [42576834, 42576876], [42577581, 42577773]]
NM_001251884 [[42544103, 42544305], [42560714, 42560822], [42567378, 42567485], [42568887, 42568988], [42569482, 42569615], [42572270, 42572424], [42572962, 42573023], [42573294, 42573361], [42573733, 42573825], [42576466, 42576596], [42576834, 42576876], [42577581, 42579065]] [[42544262, 42544305], [42560714, 42560822], [42567378, 42567485], [42568887, 42568988], [42569482, 42569615], [42572270, 42572424], [42572962, 42573023], [42573294, 42573361], [42573733, 42573825], [42576466, 42576596], [42576834, 42576876], [42577581, 42577773]]
NM_004624 [[42544103, 42544305], [42555240, 42555346], [42560714, 42560822], [42567378, 42567485], [42568884, 42568988], [42569482, 42569615], [42572270, 42572424], [42572962, 42573023], [42573294, 42573361], [42573733, 42573825], [42576466, 42576596], [42576834, 42576876], [42577581, 42579065]] [[42544227, 42544305], [42555240, 42555346], [42560714, 42560822], [42567378, 42567485], [42568884, 42568988], [42569482, 42569615], [42572270, 42572424], [42572962, 42573023], [42573294, 42573361], [42573733, 42573825], [42576466, 42576596], [42576834, 42576876], [42577581, 42577773]]
Promoter
Chrom Start End Description
chr3 42544084 42544141 CAGE_peak_1_at_VIPR1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I042522 42522350 42523732 0.38 [{'connected_gene': 'SEC22C', 'score': 14.52}, {'connected_gene': 'VIPR1', 'score': 11.5}, {'connected_gene': 'NKTR', 'score': 10.51}, {'connected_gene': 'VIPR1-AS1', 'score': 0.39}]
chr3 GH03I042544 42544523 42545794 1.06 [{'connected_gene': 'SEC22C', 'score': 50.94}, {'connected_gene': 'NKTR', 'score': 20.98}, {'connected_gene': 'SS18L2', 'score': 12.09}, {'connected_gene': 'VIPR1', 'score': 11.04}, {'connected_gene': 'CCDC13', 'score': 9.63}, {'connected_gene': 'CCDC13-AS1', 'score': 9.37}, {'connected_gene': 'VIPR1-AS1', 'score': 0.39}]
chr3 GH03I042229 42229801 42230001 0.54 [{'connected_gene': 'CCK', 'score': 10.56}, {'connected_gene': 'VIPR1', 'score': 10.38}, {'connected_gene': 'VIPR1-AS1', 'score': 10.36}, {'connected_gene': 'RNU4-78P', 'score': 0.44}, {'connected_gene': 'LOC105377048', 'score': 0.37}]
chr3 GH03I042488 42488806 42491219 1.21 [{'connected_gene': 'VIPR1', 'score': 555.7}, {'connected_gene': 'SEC22C', 'score': 6.51}, {'connected_gene': 'VIPR1-AS1', 'score': 0.26}]
chr3 GH03I042526 42526801 42527400 0.72 [{'connected_gene': 'VIPR1', 'score': 14.99}, {'connected_gene': 'SS18L2', 'score': 10.62}, {'connected_gene': 'LYZL4', 'score': 10.62}, {'connected_gene': 'SEC22C', 'score': 10.58}, {'connected_gene': 'NKTR', 'score': 8.31}, {'connected_gene': 'VIPR1-AS1', 'score': 0.44}]
chr3 GH03I042501 42501769 42512249 2.54 [{'connected_gene': 'VIPR1', 'score': 550.37}, {'connected_gene': 'NKTR', 'score': 27.45}, {'connected_gene': 'SEC22C', 'score': 15.64}, {'connected_gene': 'VIPR1-AS1', 'score': 12.32}, {'connected_gene': 'SNRK-AS1', 'score': 11.12}, {'connected_gene': 'SS18L2', 'score': 10.78}, {'connected_gene': 'ZNF662', 'score': 10.05}, {'connected_gene': 'CCDC13-AS1', 'score': 4.34}]
chr3 GH03I042518 42518730 42521575 0.52 [{'connected_gene': 'VIPR1', 'score': 15.68}, {'connected_gene': 'NKTR', 'score': 9.23}, {'connected_gene': 'SEC22C', 'score': 5.06}, {'connected_gene': 'VIPR1-AS1', 'score': 0.39}]
chr3 GH03I042514 42514776 42516900 0.83 [{'connected_gene': 'VIPR1', 'score': 12.48}, {'connected_gene': 'NKTR', 'score': 10.48}, {'connected_gene': 'VIPR1-AS1', 'score': 0.37}]
chr3 GH03I042524 42524849 42524990 0.45 [{'connected_gene': 'VIPR1', 'score': 16.25}, {'connected_gene': 'LYZL4', 'score': 10.62}, {'connected_gene': 'SS18L2', 'score': 10.61}, {'connected_gene': 'SEC22C', 'score': 10.57}, {'connected_gene': 'NKTR', 'score': 7.94}, {'connected_gene': 'CCDC13', 'score': 3.36}, {'connected_gene': 'VIPR1-AS1', 'score': 0.44}]
chr3 GH03I042255 42255849 42257604 0.63 [{'connected_gene': 'VIPR1', 'score': 9.9}, {'connected_gene': 'LOC105377048', 'score': 0.44}, {'connected_gene': 'ENSG00000281160', 'score': 0.44}]
chr3 GH03I042177 42177608 42182277 1.57 [{'connected_gene': 'VIPR1', 'score': 10.29}, {'connected_gene': 'VIPR1-AS1', 'score': 10.29}, {'connected_gene': 'TRAK1', 'score': 6.1}, {'connected_gene': 'TPMTP2', 'score': 0.29}, {'connected_gene': 'GC03P042217', 'score': 0.28}]
chr3 GH03I042183 42183201 42185842 0.43 [{'connected_gene': 'VIPR1', 'score': 10.29}, {'connected_gene': 'VIPR1-AS1', 'score': 10.29}, {'connected_gene': 'TRAK1', 'score': 6.33}, {'connected_gene': 'GC03P042217', 'score': 0.29}, {'connected_gene': 'TPMTP2', 'score': 0.28}]
chr3 GH03I042176 42176377 42176815 0.63 [{'connected_gene': 'VIPR1', 'score': 10.29}, {'connected_gene': 'VIPR1-AS1', 'score': 10.29}, {'connected_gene': 'TPMTP2', 'score': 0.29}, {'connected_gene': 'GC03P042217', 'score': 0.26}, {'connected_gene': 'TRAK1', 'score': 0.1}]
chr3 GH03I042476 42476294 42477377 0.79 [{'connected_gene': 'VIPR1', 'score': 4.94}, {'connected_gene': 'RPL35AP8', 'score': 0.44}]
chr3 GH03I042472 42472622 42474622 0.96 [{'connected_gene': 'VIPR1', 'score': 4.87}, {'connected_gene': 'RPL35AP8', 'score': 0.77}]
chr3 GH03I042541 42541657 42542937 0.31 [{'connected_gene': 'SS18L2', 'score': 12.09}, {'connected_gene': 'SEC22C', 'score': 12.03}, {'connected_gene': 'VIPR1', 'score': 11.05}, {'connected_gene': 'CCDC13', 'score': 9.63}, {'connected_gene': 'CCDC13-AS1', 'score': 9.36}, {'connected_gene': 'NKTR', 'score': 7.25}, {'connected_gene': 'VIPR1-AS1', 'score': 0.44}]
chr3 GH03I042539 42539949 42540118 0.79 [{'connected_gene': 'SS18L2', 'score': 12.07}, {'connected_gene': 'SEC22C', 'score': 12.02}, {'connected_gene': 'VIPR1', 'score': 11.05}, {'connected_gene': 'CCDC13', 'score': 9.63}, {'connected_gene': 'CCDC13-AS1', 'score': 9.36}, {'connected_gene': 'VIPR1-AS1', 'score': 0.44}]
chr3 GH03I042547 42547529 42547678 0.87 [{'connected_gene': 'SS18L2', 'score': 12.1}, {'connected_gene': 'SEC22C', 'score': 12.04}, {'connected_gene': 'VIPR1', 'score': 11.04}, {'connected_gene': 'CCDC13', 'score': 9.63}, {'connected_gene': 'CCDC13-AS1', 'score': 9.37}, {'connected_gene': 'VIPR1-AS1', 'score': 0.39}]
chr3 GH03I042555 42555672 42557078 0.58 [{'connected_gene': 'NKTR', 'score': 36.86}, {'connected_gene': 'VIPR1', 'score': 11.14}, {'connected_gene': 'CCDC13-AS1', 'score': 10.41}, {'connected_gene': 'CCDC13', 'score': 10.4}, {'connected_gene': 'VIPR1-AS1', 'score': 0.34}, {'connected_gene': 'SS18L2', 'score': 0.31}, {'connected_gene': 'SEC22C', 'score': 0.26}]
chr3 GH03I042019 42019002 42027622 1.69 [{'connected_gene': 'NKTR', 'score': 38.34}, {'connected_gene': 'ULK4', 'score': 30.37}, {'connected_gene': 'ZNF662', 'score': 21.2}, {'connected_gene': 'CTNNB1', 'score': 14.12}, {'connected_gene': 'TRAK1', 'score': 11.28}, {'connected_gene': 'VIPR1', 'score': 4.69}, {'connected_gene': 'ENSG00000229339', 'score': 0.31}]
chr3 GH03I042041 42041554 42046851 1.33 [{'connected_gene': 'TRAK1', 'score': 21.55}, {'connected_gene': 'ULK4', 'score': 15.88}, {'connected_gene': 'VIPR1', 'score': 4.8}, {'connected_gene': 'ENSG00000229339', 'score': 0.44}]
chr3 GH03I042247 42247609 42247758 0.64 [{'connected_gene': 'LOC105377048', 'score': 550.77}, {'connected_gene': 'VIPR1', 'score': 10.81}, {'connected_gene': 'VIPR1-AS1', 'score': 10.8}, {'connected_gene': 'ENSG00000212145', 'score': 9.75}, {'connected_gene': 'RNU4-78P', 'score': 0.31}]
chr3 GH03I042532 42532631 42534403 0.46 [{'connected_gene': 'VIPR1-AS1', 'score': 550.77}, {'connected_gene': 'SEC22C', 'score': 7.42}, {'connected_gene': 'VIPR1', 'score': 0.26}, {'connected_gene': 'SS18L2', 'score': 0.25}]
chr3 GH03I042536 42536509 42536658 0.59 [{'connected_gene': 'VIPR1-AS1', 'score': 0.77}, {'connected_gene': 'VIPR1', 'score': 0.25}, {'connected_gene': 'SS18L2', 'score': 0.25}]
chr3 GH03I042529 42529401 42530000 0.58 [{'connected_gene': 'VIPR1-AS1', 'score': 0.77}, {'connected_gene': 'VIPR1', 'score': 0.26}]
chr3 GH03I042492 42492201 42493000 0.79 [{'connected_gene': 'VIPR1-AS1', 'score': 11.61}, {'connected_gene': 'VIPR1', 'score': 0.77}]
chr3 GH03I042530 42530585 42532582 0.38 [{'connected_gene': 'VIPR1-AS1', 'score': 550.77}, {'connected_gene': 'VIPR1', 'score': 0.26}]
chr3 GH03I042496 42496629 42497733 1.18 [{'connected_gene': 'SNRK-AS1', 'score': 4.02}, {'connected_gene': 'VIPR1', 'score': 0.44}, {'connected_gene': 'VIPR1-AS1', 'score': 0.28}]
chr3 GH03I042475 42475101 42475179 0.2 [{'connected_gene': 'RPL35AP8', 'score': 0.44}, {'connected_gene': 'VIPR1', 'score': 0.39}]
chr3 GH03I042187 42187909 42189549 0.58 [{'connected_gene': 'ENSG00000212145', 'score': 10.47}, {'connected_gene': 'VIPR1', 'score': 9.67}, {'connected_gene': 'TRAK1', 'score': 5.51}, {'connected_gene': 'GC03P042217', 'score': 0.31}, {'connected_gene': 'TPMTP2', 'score': 0.26}]