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
ENST00000339697 [[122764498, 122766324], [122767918, 122768149], [122768265, 122768410], [122772808, 122772899], [122773032, 122773202], [122774914, 122775052], [122775295, 122775375], [122777625, 122777795], [122779664, 122779826], [122792843, 122792967]] [[122766188, 122766324], [122767918, 122768149], [122768265, 122768410], [122772808, 122772899], [122773032, 122773202], [122774914, 122775052], [122775295, 122775375], [122777625, 122777795], [122779664, 122779826], [122792843, 122792882]]
NM_020755 [[122764492, 122766324], [122767918, 122768149], [122768265, 122768410], [122772808, 122772899], [122773032, 122773202], [122774914, 122775052], [122775295, 122775375], [122777625, 122777795], [122779664, 122779826], [122792843, 122793026]] [[122766188, 122766324], [122767918, 122768149], [122768265, 122768410], [122772808, 122772899], [122773032, 122773202], [122774914, 122775052], [122775295, 122775375], [122777625, 122777795], [122779664, 122779826], [122792843, 122792882]]
Promoter
Chrom Start End Description
chr6 122792919 122792970 CAGE_peak_1_at_SERINC1_5end
chr6 122792978 122792992 CAGE_peak_2_at_SERINC1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I122644 122644821 122646438 0.43 [{'connected_gene': 'SERINC1', 'score': 10.49}, {'connected_gene': 'PKIB', 'score': 5.02}, {'connected_gene': 'ENSG00000272472', 'score': 0.77}, {'connected_gene': 'RN7SL564P', 'score': 0.15}]
chr6 GH06I122620 122620516 122622116 0.71 [{'connected_gene': 'SERINC1', 'score': 10.94}, {'connected_gene': 'ENSG00000272472', 'score': 0.34}, {'connected_gene': 'PIR47029', 'score': 0.31}, {'connected_gene': 'PKIB', 'score': 0.11}]
chr6 GH06I122609 122609390 122611990 1.93 [{'connected_gene': 'PKIB', 'score': 550.12}, {'connected_gene': 'SERINC1', 'score': 10.97}, {'connected_gene': 'HSF2', 'score': 6.2}, {'connected_gene': 'SMPDL3A', 'score': 4.42}, {'connected_gene': 'PIR47029', 'score': 0.39}, {'connected_gene': 'ENSG00000272472', 'score': 0.29}]
chr6 GH06I122470 122470000 122472764 2.21 [{'connected_gene': 'PKIB', 'score': 555.79}, {'connected_gene': 'ENSG00000279114', 'score': 550.77}, {'connected_gene': 'SERINC1', 'score': 550.77}, {'connected_gene': 'HSF2', 'score': 18.04}, {'connected_gene': 'ENSG00000275339', 'score': 0.37}]
chr6 GH06I122467 122467909 122469467 0.46 [{'connected_gene': 'HSF2', 'score': 6.49}, {'connected_gene': 'SERINC1', 'score': 0.77}, {'connected_gene': 'ENSG00000275339', 'score': 0.39}]
chr6 GH06I122448 122448525 122448812 0.34 [{'connected_gene': 'HSF2', 'score': 6.83}, {'connected_gene': 'PKIB', 'score': 1.54}, {'connected_gene': 'ENSG00000279453', 'score': 0.44}, {'connected_gene': 'ENSG00000275339', 'score': 0.44}, {'connected_gene': 'SERINC1', 'score': 0.34}]
chr6 GH06I122446 122446843 122448075 0.31 [{'connected_gene': 'HSF2', 'score': 11.54}, {'connected_gene': 'PKIB', 'score': 5.35}, {'connected_gene': 'ENSG00000279453', 'score': 0.44}, {'connected_gene': 'ENSG00000275339', 'score': 0.44}, {'connected_gene': 'SERINC1', 'score': 0.34}]
chr6 GH06I122455 122455491 122465430 0.64 [{'connected_gene': 'HSF2', 'score': 18.08}, {'connected_gene': 'PKIB', 'score': 5.46}, {'connected_gene': 'ENSG00000275339', 'score': 0.44}, {'connected_gene': 'SERINC1', 'score': 0.39}]
chr6 GH06I122832 122832776 122833585 0.88 [{'connected_gene': 'FABP7', 'score': 12.67}, {'connected_gene': 'SMPDL3A', 'score': 11.22}, {'connected_gene': 'PKIB', 'score': 4.35}, {'connected_gene': 'SERINC1', 'score': 3.86}, {'connected_gene': 'CLVS2', 'score': 2.3}, {'connected_gene': 'GC06M122861', 'score': 0.31}]
chr6 GH06I122759 122759099 122759387 0.54 [{'connected_gene': 'SMPDL3A', 'score': 15.05}, {'connected_gene': 'SERINC1', 'score': 1.69}, {'connected_gene': 'PKIB', 'score': 1.45}, {'connected_gene': 'RN7SL564P', 'score': 0.39}, {'connected_gene': 'FABP7', 'score': 0.34}]
chr6 GH06I122530 122530596 122530705 0.65 [{'connected_gene': 'ENSG00000277408', 'score': 550.77}, {'connected_gene': 'SERINC1', 'score': 11.63}, {'connected_gene': 'PKIB', 'score': 0.22}, {'connected_gene': 'ENSG00000279114', 'score': 0.22}]
chr6 GH06I122451 122451853 122454031 0.2 [{'connected_gene': 'ENSG00000275339', 'score': 550.77}, {'connected_gene': 'HSF2', 'score': 18.11}, {'connected_gene': 'ENSG00000279453', 'score': 0.39}, {'connected_gene': 'SERINC1', 'score': 0.37}]