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
ENST00000057513 [[122052562, 122053817], [122059778, 122059839], [122062970, 122063069], [122063880, 122063931], [122068203, 122068329], [122071257, 122071374], [122075705, 122075834], [122078248, 122078398], [122079841, 122079907], [122082290, 122082371], [122085214, 122085495]] [[122053785, 122053817], [122059778, 122059839], [122062970, 122063069], [122063880, 122063931], [122068203, 122068329], [122071257, 122071374], [122075705, 122075834], [122078248, 122078398], [122079841, 122079907], [122082290, 122082371], [122085214, 122085280]]
ENST00000454328 [[122052562, 122053817], [122059778, 122059839], [122062970, 122063069], [122063880, 122063931], [122068203, 122068329], [122071257, 122071374], [122075705, 122075834], [122078248, 122078398], [122079841, 122079907], [122082290, 122082371], [122085214, 122085301], [122103830, 122103951], [122137569, 122137655]] [[122053785, 122053817], [122059778, 122059839], [122062970, 122063069], [122063880, 122063931], [122068203, 122068329], [122071257, 122071374], [122075705, 122075834], [122078248, 122078398], [122079841, 122079907], [122082290, 122082371], [122085214, 122085280]]
ENST00000507879 [[122053194, 122053817], [122062970, 122063069], [122063880, 122063931], [122068203, 122068329], [122071257, 122071374], [122075705, 122075834], [122078248, 122078398], [122079841, 122079907], [122082290, 122082371], [122085214, 122085301], [122103830, 122103951], [122137569, 122137655], [122137740, 122137782]] [[122053802, 122053817], [122062970, 122063069], [122063880, 122063931], [122068203, 122068329], [122071257, 122071374], [122075705, 122075834], [122078248, 122078398], [122079841, 122079907], [122082290, 122082371], [122085214, 122085301], [122103830, 122103951], [122137569, 122137637]]
ENST00000509841 [[122053437, 122053817], [122062970, 122063069], [122063880, 122063931], [122068203, 122068329], [122071257, 122071374], [122075705, 122075834], [122078248, 122078398], [122079841, 122079907], [122082290, 122082371], [122085214, 122085301], [122103830, 122103951], [122137569, 122137655], [122148539, 122148621]] [[122053802, 122053817], [122062970, 122063069], [122063880, 122063931], [122068203, 122068329], [122071257, 122071374], [122075705, 122075834], [122078248, 122078398], [122079841, 122079907], [122082290, 122082371], [122085214, 122085301], [122103830, 122103951], [122137569, 122137655], [122148539, 122148542]]
ENST00000511909 [[122053546, 122053817], [122057739, 122057840], [122059778, 122059839], [122062970, 122063069], [122063880, 122063931], [122068203, 122068329], [122071257, 122071270]] None
ENST00000515605 [[122053691, 122053817], [122062970, 122063069], [122063880, 122063931], [122068203, 122068329], [122071257, 122071374], [122075705, 122075834], [122078248, 122078438]] None
ENST00000515036 [[122058603, 122059170], [122059778, 122059839], [122062970, 122063054]] [[122059054, 122059170], [122059778, 122059839], [122062970, 122063054]]
ENST00000506753 [[122075392, 122075834], [122078248, 122078398], [122079841, 122079907], [122082290, 122082371], [122085214, 122085476]] None
NM_024873 [[122052562, 122053817], [122059778, 122059839], [122062970, 122063069], [122063880, 122063931], [122068203, 122068329], [122071257, 122071374], [122075705, 122075834], [122078248, 122078398], [122079841, 122079907], [122082290, 122082371], [122085214, 122085495]] [[122053785, 122053817], [122059778, 122059839], [122062970, 122063069], [122063880, 122063931], [122068203, 122068329], [122071257, 122071374], [122075705, 122075834], [122078248, 122078398], [122079841, 122079907], [122082290, 122082371], [122085214, 122085280]]
NM_001128843 [[122052562, 122053817], [122062970, 122063069], [122063880, 122063931], [122068203, 122068329], [122071257, 122071374], [122075705, 122075834], [122078248, 122078398], [122079841, 122079907], [122082290, 122082371], [122085214, 122085301], [122103830, 122103951], [122137569, 122137655], [122137740, 122137782]] [[122053802, 122053817], [122062970, 122063069], [122063880, 122063931], [122068203, 122068329], [122071257, 122071374], [122075705, 122075834], [122078248, 122078398], [122079841, 122079907], [122082290, 122082371], [122085214, 122085301], [122103830, 122103951], [122137569, 122137637]]
NM_001244764 [[122052562, 122053817], [122062970, 122063069], [122063880, 122063931], [122068203, 122068329], [122071257, 122071374], [122075705, 122075834], [122078248, 122078398], [122079841, 122079907], [122082290, 122082371], [122085214, 122085301], [122103830, 122103951], [122137569, 122137655], [122148539, 122148621]] [[122053802, 122053817], [122062970, 122063069], [122063880, 122063931], [122068203, 122068329], [122071257, 122071374], [122075705, 122075834], [122078248, 122078398], [122079841, 122079907], [122082290, 122082371], [122085214, 122085301], [122103830, 122103951], [122137569, 122137655], [122148539, 122148542]]
Promoter
Chrom Start End Description
chr4 122079869 122079907 CAGE_peak_7_at_TNIP3_5end
chr4 122085469 122085486 CAGE_peak_1_at_TNIP3_5end
chr4 122148570 122148588 CAGE_peak_4_at_TNIP3_5end
chr4 122148620 122148647 CAGE_peak_2_at_TNIP3_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I121138 121138165 121140975 0.88 [{'connected_gene': 'TNIP3', 'score': 10.49}, {'connected_gene': 'NDNF', 'score': 6.73}, {'connected_gene': 'ENSG00000271302', 'score': 0.34}, {'connected_gene': 'RNU6-948P', 'score': 0.23}, {'connected_gene': 'GC04M121193', 'score': 0.23}]
chr4 GH04I121199 121199409 121201200 1.14 [{'connected_gene': 'TNIP3', 'score': 12.35}, {'connected_gene': 'NDNF', 'score': 11.05}, {'connected_gene': 'RNU6-948P', 'score': 0.44}, {'connected_gene': 'GC04M121193', 'score': 0.44}]
chr4 GH04I121153 121153257 121157601 1.68 [{'connected_gene': 'TNIP3', 'score': 27.62}, {'connected_gene': 'RNU6-948P', 'score': 11.78}, {'connected_gene': 'NDNF', 'score': 9.19}, {'connected_gene': 'ENSG00000271302', 'score': 0.28}, {'connected_gene': 'GC04M121193', 'score': 0.28}]
chr4 GH04I121164 121164311 121164370 0.5 [{'connected_gene': 'TNIP3', 'score': 560.18}, {'connected_gene': 'RNU6-948P', 'score': 11.5}, {'connected_gene': 'NDNF', 'score': 9.11}, {'connected_gene': 'GC04M121193', 'score': 0.31}, {'connected_gene': 'ENSG00000271302', 'score': 0.25}]
chr4 GH04I121177 121177801 121178400 0.58 [{'connected_gene': 'TNIP3', 'score': 10.53}, {'connected_gene': 'RNU6-948P', 'score': 0.39}, {'connected_gene': 'GC04M121193', 'score': 0.39}, {'connected_gene': 'ENSG00000271302', 'score': 0.22}]
chr4 GH04I121176 121176801 121177200 0.2 [{'connected_gene': 'TNIP3', 'score': 10.52}, {'connected_gene': 'RNU6-948P', 'score': 0.37}, {'connected_gene': 'GC04M121193', 'score': 0.37}, {'connected_gene': 'ENSG00000271302', 'score': 0.22}]
chr4 GH04I121180 121180459 121183634 0.78 [{'connected_gene': 'TNIP3', 'score': 10.57}, {'connected_gene': 'RNU6-948P', 'score': 0.39}, {'connected_gene': 'GC04M121193', 'score': 0.39}, {'connected_gene': 'ENSG00000271302', 'score': 0.21}]
chr4 GH04I121212 121212946 121213095 0.2 [{'connected_gene': 'TNIP3', 'score': 0.39}, {'connected_gene': 'RNU6-948P', 'score': 0.34}, {'connected_gene': 'GC04M121193', 'score': 0.34}]
chr4 GH04I121216 121216666 121216815 0.4 [{'connected_gene': 'TNIP3', 'score': 0.39}, {'connected_gene': 'RNU6-948P', 'score': 0.34}, {'connected_gene': 'GC04M121193', 'score': 0.34}]
chr4 GH04I121217 121217466 121217528 0.51 [{'connected_gene': 'TNIP3', 'score': 0.39}, {'connected_gene': 'RNU6-948P', 'score': 0.34}, {'connected_gene': 'GC04M121193', 'score': 0.34}]
chr4 GH04I121228 121227473 121227532 0.99 [{'connected_gene': 'TNIP3', 'score': 550.77}, {'connected_gene': 'RNU6-948P', 'score': 0.29}, {'connected_gene': 'GC04M121193', 'score': 0.29}]
chr4 GH04I121272 121272646 121272795 0.74 [{'connected_gene': 'TNIP3', 'score': 0.25}, {'connected_gene': 'ENSG00000207148', 'score': 0.22}]
chr4 GH04I121227 121227606 121227755 0.72 [{'connected_gene': 'TNIP3', 'score': 550.77}, {'connected_gene': 'ENSG00000207148', 'score': 0.15}]
chr4 GH04I121252 121252346 121252495 0.6 [{'connected_gene': 'TNIP3', 'score': 0.34}, {'connected_gene': 'ENSG00000207148', 'score': 0.18}]
chr4 GH04I121253 121253115 121257400 1.19 [{'connected_gene': 'TNIP3', 'score': 11.73}, {'connected_gene': 'ENSG00000207148', 'score': 0.19}]
chr4 GH04I121165 121164486 121164635 0.2 [{'connected_gene': 'RNU6-948P', 'score': 11.5}, {'connected_gene': 'TNIP3', 'score': 10.18}, {'connected_gene': 'GC04M121193', 'score': 0.31}, {'connected_gene': 'ENSG00000271302', 'score': 0.25}]
chr4 GH04I121168 121168886 121169035 0.72 [{'connected_gene': 'RNU6-948P', 'score': 11.83}, {'connected_gene': 'GC04M121193', 'score': 0.34}, {'connected_gene': 'ENSG00000271302', 'score': 0.23}, {'connected_gene': 'TNIP3', 'score': 0.22}]
chr4 GH04I121189 121189104 121191948 0.63 [{'connected_gene': 'RNU6-948P', 'score': 0.77}, {'connected_gene': 'GC04M121193', 'score': 0.77}, {'connected_gene': 'TNIP3', 'score': 0.28}, {'connected_gene': 'ENSG00000271302', 'score': 0.19}]
chr4 GH04I121192 121192052 121192733 0.97 [{'connected_gene': 'RNU6-948P', 'score': 550.77}, {'connected_gene': 'GC04M121193', 'score': 550.77}, {'connected_gene': 'TNIP3', 'score': 0.28}, {'connected_gene': 'ENSG00000271302', 'score': 0.19}]
chr4 GH04I121169 121169066 121169215 0.74 [{'connected_gene': 'RNU6-948P', 'score': 11.83}, {'connected_gene': 'GC04M121193', 'score': 0.34}, {'connected_gene': 'ENSG00000271302', 'score': 0.23}, {'connected_gene': 'TNIP3', 'score': 0.22}]
chr4 GH04I121220 121220159 121220437 0.4 [{'connected_gene': 'RNU6-948P', 'score': 11.29}, {'connected_gene': 'NDNF', 'score': 7.11}, {'connected_gene': 'TNIP3', 'score': 0.44}, {'connected_gene': 'GC04M121193', 'score': 0.31}]
chr4 GH04I121307 121307650 121308555 0.69 [{'connected_gene': 'ENSG00000207148', 'score': 0.34}, {'connected_gene': 'TNIP3', 'score': 0.18}]

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