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
ENST00000370602 [[99609995, 99610072], [99619214, 99619340], [99623686, 99623839], [99623924, 99624026], [99625346, 99627782]] [[99610060, 99610072], [99619214, 99619340], [99623686, 99623839], [99623924, 99624026], [99625346, 99625457]]
ENST00000423054 [[99625987, 99626132], [99630822, 99631337]] None
NM_001010917 [[99609994, 99610072], [99619214, 99619340], [99623686, 99623839], [99623924, 99624026], [99625346, 99631335]] [[99610060, 99610072], [99619214, 99619340], [99623686, 99623839], [99623924, 99624026], [99625346, 99625457]]
Promoter
Chrom Start End Description
chr10 99609582 99609664 CAGE_peak_1_at_GOLGA7B_5end
chr10 99609717 99609780 CAGE_peak_2_at_GOLGA7B_5end
chr10 99627478 99627480 CAGE_peak_3_at_GOLGA7B_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I097857 97857285 97859511 0.57 [{'connected_gene': 'SFRP5', 'score': 10.82}, {'connected_gene': 'LOXL4', 'score': 9.23}, {'connected_gene': 'GOLGA7B', 'score': 5.92}, {'connected_gene': 'PIR47260', 'score': 0.31}, {'connected_gene': 'CRTAC1', 'score': 0.09}]
chr10 GH10I097828 97828699 97830699 0.38 [{'connected_gene': 'SFRP5', 'score': 11.36}, {'connected_gene': 'CRTAC1', 'score': 10.62}, {'connected_gene': 'GOLGA7B', 'score': 9.59}, {'connected_gene': 'ZFYVE27', 'score': 6.27}, {'connected_gene': 'PIR33458', 'score': 0.39}, {'connected_gene': 'LINC00866', 'score': 0.34}]
chr10 GH10I097837 97837681 97838646 0.2 [{'connected_gene': 'SFRP5', 'score': 11.15}, {'connected_gene': 'CRTAC1', 'score': 10.62}, {'connected_gene': 'GOLGA7B', 'score': 6.5}, {'connected_gene': 'PIR33458', 'score': 0.77}, {'connected_gene': 'LINC00866', 'score': 0.39}]
chr10 GH10I097862 97862667 97863395 0.2 [{'connected_gene': 'SFRP5', 'score': 11.57}, {'connected_gene': 'GOLGA7B', 'score': 0.39}, {'connected_gene': 'PIR47260', 'score': 0.34}, {'connected_gene': 'CRTAC1', 'score': 0.1}]
chr10 GH10I097861 97861153 97862400 1.17 [{'connected_gene': 'SFRP5', 'score': 11.58}, {'connected_gene': 'ZFYVE27', 'score': 10.39}, {'connected_gene': 'GOLGA7B', 'score': 0.39}, {'connected_gene': 'PIR47260', 'score': 0.34}, {'connected_gene': 'CRTAC1', 'score': 0.1}]
chr10 GH10I097827 97827695 97828631 0.31 [{'connected_gene': 'GOLGA7B', 'score': 20.36}, {'connected_gene': 'SFRP5', 'score': 11.36}, {'connected_gene': 'PIR33458', 'score': 0.39}, {'connected_gene': 'LINC00866', 'score': 0.34}]
chr10 GH10I097819 97819302 97819835 0.2 [{'connected_gene': 'GOLGA7B', 'score': 21.65}, {'connected_gene': 'SFRP5', 'score': 10.93}, {'connected_gene': 'PIR33458', 'score': 0.34}]
chr10 GH10I097809 97809900 97811211 0.56 [{'connected_gene': 'GOLGA7B', 'score': 8.15}, {'connected_gene': 'PIR33458', 'score': 0.29}, {'connected_gene': 'SFRP5', 'score': 0.28}]
chr10 GH10I097869 97869044 97870112 1.29 [{'connected_gene': 'GOLGA7B', 'score': 18.89}, {'connected_gene': 'MMS19', 'score': 12.93}, {'connected_gene': 'R3HCC1L', 'score': 12.85}, {'connected_gene': 'SFRP5', 'score': 11.08}, {'connected_gene': 'PIR47260', 'score': 0.39}, {'connected_gene': 'CRTAC1', 'score': 0.1}]
chr10 GH10I097850 97850408 97850413 0.72 [{'connected_gene': 'GOLGA7B', 'score': 550.77}, {'connected_gene': 'LINC00866', 'score': 550.77}, {'connected_gene': 'GC10M097848', 'score': 550.77}, {'connected_gene': 'PIR47260', 'score': 0.29}]
chr10 GH10I097852 97850817 97851253 0.63 [{'connected_gene': 'GOLGA7B', 'score': 550.77}, {'connected_gene': 'LINC00866', 'score': 550.77}, {'connected_gene': 'GC10M097848', 'score': 550.77}, {'connected_gene': 'PIR47260', 'score': 0.29}]
chr10 GH10I097848 97848875 97850401 2.03 [{'connected_gene': 'GOLGA7B', 'score': 556.5}, {'connected_gene': 'LINC00866', 'score': 550.77}, {'connected_gene': 'GC10M097848', 'score': 550.77}]
chr10 GH10I097851 97851292 97853207 0.58 [{'connected_gene': 'GOLGA7B', 'score': 6.7}, {'connected_gene': 'PIR47260', 'score': 0.29}]
chr10 GH10I097839 97839574 97841104 1.36 [{'connected_gene': 'PIR33458', 'score': 550.77}, {'connected_gene': 'CRTAC1', 'score': 10.33}, {'connected_gene': 'PYROXD2', 'score': 9.76}, {'connected_gene': 'GOLGA7B', 'score': 6.6}, {'connected_gene': 'LINC00866', 'score': 0.44}, {'connected_gene': 'SFRP5', 'score': 0.2}]
chr10 GH10I097881 97881799 97883441 0.89 [{'connected_gene': 'PIR47260', 'score': 550.77}, {'connected_gene': 'CRTAC1', 'score': 8.05}, {'connected_gene': 'GOLGA7B', 'score': 0.29}]