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
ENST00000529246 [[49518112, 49519808]] [[49518505, 49519240]]
ENST00000414696 [[49518378, 49519388], [49522589, 49522870], [49528246, 49528647]] [[49518505, 49519240]]
ENST00000371194 [[49518387, 49519388], [49520180, 49520283], [49520689, 49520920], [49522589, 49522870], [49529416, 49529620]] [[49518505, 49519240]]
ENST00000424426 [[49518738, 49519003], [49519593, 49519770]] None
ENST00000415078 [[49519022, 49519388], [49519593, 49519812]] [[49519022, 49519240]]
ENST00000526429 [[49520065, 49520283], [49522589, 49523021]] None
ENST00000530382 [[49520070, 49520283], [49520689, 49520920], [49522589, 49522773]] None
NM_001145652 [[49518112, 49519808]] [[49518505, 49519240]]
Promoter
Chrom Start End Description
chr6 49518363 49518426 CAGE_peak_1_at_C6orf141_5end
chr6 49518466 49518478 CAGE_peak_3_at_C6orf141_5end
chr6 49519017 49519042 CAGE_peak_4_at_C6orf141_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I049645 49645230 49648676 1.22 [{'connected_gene': 'RHAG', 'score': 20.38}, {'connected_gene': 'LOC101927020', 'score': 10.5}, {'connected_gene': 'LOC101927048', 'score': 10.5}, {'connected_gene': 'CRISP3', 'score': 10.37}, {'connected_gene': 'C6orf141', 'score': 8.13}, {'connected_gene': 'CENPQ', 'score': 2.19}, {'connected_gene': 'CRISP2', 'score': 0.2}]
chr6 GH06I049555 49555607 49557565 1.38 [{'connected_gene': 'CENPQ', 'score': 12.81}, {'connected_gene': 'PGK2', 'score': 9.9}, {'connected_gene': 'LOC101927020', 'score': 9.35}, {'connected_gene': 'LOC101927048', 'score': 9.35}, {'connected_gene': 'MUT', 'score': 7.51}, {'connected_gene': 'C6orf141', 'score': 0.44}, {'connected_gene': 'CYP2AC1P', 'score': 0.34}]
chr6 GH06I049569 49569911 49571127 0.6 [{'connected_gene': 'C6orf141', 'score': 17.31}, {'connected_gene': 'CENPQ', 'score': 6.82}, {'connected_gene': 'LOC101927020', 'score': 4.87}, {'connected_gene': 'CYP2AC1P', 'score': 0.44}]
chr6 GH06I049564 49564886 49567269 0.88 [{'connected_gene': 'C6orf141', 'score': 11.17}, {'connected_gene': 'CENPQ', 'score': 9.19}, {'connected_gene': 'LOC101927020', 'score': 4.62}, {'connected_gene': 'CYP2AC1P', 'score': 0.39}]
chr6 GH06I049549 49549688 49555452 2.34 [{'connected_gene': 'C6orf141', 'score': 550.77}, {'connected_gene': 'MUT', 'score': 7.65}, {'connected_gene': 'CENPQ', 'score': 6.7}, {'connected_gene': 'CYP2AC1P', 'score': 0.31}]
chr6 GH06I049666 49666916 49667797 0.86 [{'connected_gene': 'CRISP3', 'score': 11.24}, {'connected_gene': 'PGK2', 'score': 10.9}, {'connected_gene': 'C6orf141', 'score': 8.13}, {'connected_gene': 'RHAG', 'score': 0.29}, {'connected_gene': 'CRISP2', 'score': 0.25}]
chr6 GH06I049669 49668328 49668477 0.74 [{'connected_gene': 'CRISP3', 'score': 11.24}, {'connected_gene': 'PGK2', 'score': 10.9}, {'connected_gene': 'C6orf141', 'score': 8.13}, {'connected_gene': 'RHAG', 'score': 0.29}, {'connected_gene': 'CRISP2', 'score': 0.25}]
chr6 GH06I049766 49766455 49770933 0.9 [{'connected_gene': 'LOC101927020', 'score': 19.9}, {'connected_gene': 'CRISP3', 'score': 11.78}, {'connected_gene': 'LOC101927048', 'score': 11.24}, {'connected_gene': 'MUT', 'score': 5.36}, {'connected_gene': 'CRISP2', 'score': 4.97}, {'connected_gene': 'C6orf141', 'score': 4.86}, {'connected_gene': 'PGK2', 'score': 0.37}]
chr6 GH06I049540 49540534 49542717 1.42 [{'connected_gene': 'GC06M049537', 'score': 0.44}, {'connected_gene': 'C6orf141', 'score': 0.44}]