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
ENST00000366697 [[228595640, 228596452], [228596872, 228596976], [228597089, 228597112], [228598646, 228598877], [228601497, 228601593], [228602344, 228603730]] [[228595901, 228596452], [228596872, 228596976], [228597089, 228597112], [228598646, 228598877], [228601497, 228601593], [228602344, 228602773]]
ENST00000366698 [[228595736, 228596452], [228596872, 228596976], [228597089, 228597112], [228598646, 228598877], [228601497, 228601593], [228602344, 228602814], [228604239, 228604347]] [[228595901, 228596452], [228596872, 228596976], [228597089, 228597112], [228598646, 228598877], [228601497, 228601593], [228602344, 228602773]]
ENST00000295033 [[228595736, 228596452], [228596872, 228596976], [228597089, 228597112], [228598646, 228598877], [228601497, 228601593], [228602344, 228602778], [228604239, 228604365]] [[228595901, 228596452], [228596872, 228596976], [228597089, 228597112], [228598646, 228598877], [228601497, 228601593], [228602344, 228602773]]
ENST00000456946 [[228596400, 228596976], [228597089, 228597112], [228598646, 228598877], [228601497, 228601593], [228602344, 228602778], [228604087, 228604458]] [[228596723, 228596976], [228597089, 228597112], [228598646, 228598877], [228601497, 228601593], [228602344, 228602773]]
ENST00000479800 [[228596872, 228596976], [228597089, 228597112], [228598646, 228598877], [228601497, 228601593], [228602344, 228602700], [228604239, 228604354]] [[228596872, 228596976], [228597089, 228597112], [228598646, 228598877], [228601497, 228601593], [228602344, 228602692]]
ENST00000355586 [[228601496, 228601593], [228602344, 228602814], [228604087, 228604328]] [[228601496, 228601593], [228602344, 228602773]]
ENST00000457345 [[228602600, 228602700], [228604087, 228604562]] [[228602600, 228602692]]
ENST00000520264 [[228602621, 228602906], [228604087, 228604353]] [[228602621, 228602773]]
NM_016102 [[228595635, 228596452], [228596872, 228596976], [228597089, 228597112], [228598646, 228598877], [228601497, 228601593], [228602344, 228602814], [228604239, 228604583]] [[228595901, 228596452], [228596872, 228596976], [228597089, 228597112], [228598646, 228598877], [228601497, 228601593], [228602344, 228602773]]
NM_001024940 [[228595635, 228596452], [228596872, 228596976], [228597089, 228597112], [228598646, 228598877], [228601497, 228601593], [228602344, 228602778], [228604239, 228604583]] [[228595901, 228596452], [228596872, 228596976], [228597089, 228597112], [228598646, 228598877], [228601497, 228601593], [228602344, 228602773]]
NM_001134855 [[228596474, 228596976], [228597089, 228597112], [228598646, 228598877], [228601497, 228601593], [228602344, 228602778], [228604087, 228604583]] [[228596723, 228596976], [228597089, 228597112], [228598646, 228598877], [228601497, 228601593], [228602344, 228602773]]
Promoter
Chrom Start End Description
chr1 228603694 228603706 CAGE_peak_7_at_TRIM17_5end
chr1 228604336 228604346 CAGE_peak_11_at_TRIM17_5end
chr1 228604381 228604423 CAGE_peak_2_at_TRIM17_5end
chr1 228604454 228604504 CAGE_peak_3_at_TRIM17_5end
chr1 228604544 228604568 CAGE_peak_1_at_TRIM17_5end
chr1 228604572 228604589 CAGE_peak_4_at_TRIM17_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I228205 228205238 228211521 1.63 [{'connected_gene': 'OBSCN', 'score': 591.92}, {'connected_gene': 'RNF187', 'score': 5.12}, {'connected_gene': 'TRIM17', 'score': 2.35}, {'connected_gene': 'GJC2', 'score': 1.72}, {'connected_gene': 'OBSCN-AS1', 'score': 0.44}]
chr1 GH01I228420 228420213 228422421 0.86 [{'connected_gene': 'OBSCN-AS1', 'score': 4.1}, {'connected_gene': 'TRIM17', 'score': 0.77}, {'connected_gene': 'GC01M228428', 'score': 0.77}]
chr1 GH01I228445 228445521 228446654 1.17 [{'connected_gene': 'TRIM17', 'score': 16.97}, {'connected_gene': 'OBSCN', 'score': 16.3}, {'connected_gene': 'TRIM11', 'score': 13.15}, {'connected_gene': 'ENSG00000231563', 'score': 11.92}, {'connected_gene': 'OBSCN-AS1', 'score': 10.39}, {'connected_gene': 'WNT3A', 'score': 9.99}, {'connected_gene': 'GJC2', 'score': 4.48}, {'connected_gene': 'HIST3H2A', 'score': 2.15}, {'connected_gene': 'RPL23AP15', 'score': 0.77}, {'connected_gene': 'HIST3H3', 'score': 0.34}]
chr1 GH01I228416 228416600 228416801 1.23 [{'connected_gene': 'TRIM17', 'score': 550.77}, {'connected_gene': 'ENSG00000231563', 'score': 0.44}]
chr1 GH01I228418 228416320 228416469 0.49 [{'connected_gene': 'TRIM17', 'score': 550.77}, {'connected_gene': 'ENSG00000231563', 'score': 0.44}]
chr1 GH01I228417 228417177 228418478 0.68 [{'connected_gene': 'TRIM17', 'score': 559.45}, {'connected_gene': 'GC01M228428', 'score': 0.44}]
chr1 GH01I228366 228366915 228370597 1.41 [{'connected_gene': 'LOC101927401', 'score': 550.77}, {'connected_gene': 'OBSCN', 'score': 7.67}, {'connected_gene': 'TRIM17', 'score': 6.03}, {'connected_gene': 'ENSG00000270104', 'score': 0.37}]
chr1 GH01I228403 228403895 228408562 2.03 [{'connected_gene': 'ENSG00000231563', 'score': 550.77}, {'connected_gene': 'TRIM11', 'score': 550.77}, {'connected_gene': 'GC01M228396', 'score': 550.77}, {'connected_gene': 'CICP26', 'score': 18.08}, {'connected_gene': 'ZNF678', 'score': 12.48}, {'connected_gene': 'HIST3H3', 'score': 10.87}, {'connected_gene': 'C1orf35', 'score': 10.54}, {'connected_gene': 'MRPL55', 'score': 10.43}, {'connected_gene': 'ENSG00000269890', 'score': 10.42}, {'connected_gene': 'WNT3A', 'score': 4.47}, {'connected_gene': 'PIR32292', 'score': 0.77}, {'connected_gene': 'GC01M228403', 'score': 0.77}, {'connected_gene': 'TRIM17', 'score': 0.39}]
chr1 GH01I228393 228392900 228394772 0.63 [{'connected_gene': 'ENSG00000270094', 'score': 550.77}, {'connected_gene': 'RPL23AP15', 'score': 11.58}, {'connected_gene': 'HIST3H2A', 'score': 11.57}, {'connected_gene': 'HIST3H2BB', 'score': 11.57}, {'connected_gene': 'HIST3H3', 'score': 11.34}, {'connected_gene': 'OBSCN-AS1', 'score': 10.61}, {'connected_gene': 'OBSCN', 'score': 10.6}, {'connected_gene': 'TRIM17', 'score': 5.71}, {'connected_gene': 'ENSG00000270104', 'score': 0.44}, {'connected_gene': 'TRIM11', 'score': 0.39}]
chr1 GH01I228392 228392311 228392792 0.82 [{'connected_gene': 'ENSG00000270094', 'score': 550.77}, {'connected_gene': 'RPL23AP15', 'score': 11.58}, {'connected_gene': 'HIST3H2A', 'score': 11.56}, {'connected_gene': 'HIST3H2BB', 'score': 11.56}, {'connected_gene': 'OBSCN-AS1', 'score': 10.61}, {'connected_gene': 'OBSCN', 'score': 10.61}, {'connected_gene': 'TRIM17', 'score': 5.72}, {'connected_gene': 'ENSG00000270104', 'score': 0.44}]