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
ENST00000227525 [[60681345, 60681740], [60687157, 60687402], [60688357, 60688460], [60689245, 60690915]] [[60687165, 60687402], [60688357, 60688460], [60689245, 60689637]]
ENST00000536171 [[60687149, 60687402], [60688357, 60688460], [60689245, 60690848]] [[60687165, 60687402], [60688357, 60688460], [60689245, 60689637]]
ENST00000540280 [[60690089, 60690113], [60690215, 60690915]] None
NM_024092 [[60681370, 60681740], [60687157, 60687402], [60688357, 60688460], [60689245, 60690915]] [[60687165, 60687402], [60688357, 60688460], [60689245, 60689637]]
Promoter
Chrom Start End Description
chr11 60681419 60681431 CAGE_peak_3_at_TMEM109_5end
chr11 60681471 60681482 CAGE_peak_4_at_TMEM109_5end
chr11 60681506 60681517 CAGE_peak_6_at_TMEM109_5end
chr11 60681567 60681606 CAGE_peak_2_at_TMEM109_5end
chr11 60681611 60681706 CAGE_peak_1_at_TMEM109_5end
chr11 60689789 60689814 CAGE_peak_5_at_TMEM109_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I061791 61791191 61794259 2.27 [{'connected_gene': 'FADS2', 'score': 583.16}, {'connected_gene': 'MIR611', 'score': 550.77}, {'connected_gene': 'FEN1', 'score': 550.77}, {'connected_gene': 'TMEM258', 'score': 550.77}, {'connected_gene': 'CPSF7', 'score': 45.31}, {'connected_gene': 'CSKMT', 'score': 43.36}, {'connected_gene': 'GANAB', 'score': 40.43}, {'connected_gene': 'TMEM138', 'score': 37.3}, {'connected_gene': 'EML3', 'score': 29.01}, {'connected_gene': 'TUT1', 'score': 28.93}, {'connected_gene': 'INTS5', 'score': 27.86}, {'connected_gene': 'TMEM109', 'score': 27.59}, {'connected_gene': 'RN7SL23P', 'score': 26.63}, {'connected_gene': 'MTA2', 'score': 23.47}, {'connected_gene': 'TAF6L', 'score': 20.06}, {'connected_gene': 'TMEM179B', 'score': 18.46}, {'connected_gene': 'UBXN1', 'score': 18.24}, {'connected_gene': 'SDHAF2', 'score': 12.72}, {'connected_gene': 'MIR1908', 'score': 12.24}, {'connected_gene': 'FADS1', 'score': 12.18}, {'connected_gene': 'EEF1G', 'score': 11.76}, {'connected_gene': 'VPS37C', 'score': 10.96}, {'connected_gene': 'BEST1', 'score': 10.61}, {'connected_gene': 'GC11P061758', 'score': 0.29}]
chr11 GH11I061428 61428286 61431575 2.26 [{'connected_gene': 'CPSF7', 'score': 575.2}, {'connected_gene': 'SDHAF2', 'score': 557.13}, {'connected_gene': 'ENSG00000256591', 'score': 550.77}, {'connected_gene': 'TMEM216', 'score': 25.13}, {'connected_gene': 'TMEM138', 'score': 16.23}, {'connected_gene': 'RN7SL23P', 'score': 15.23}, {'connected_gene': 'VPS37C', 'score': 11.45}, {'connected_gene': 'TMEM109', 'score': 10.91}, {'connected_gene': 'DDB1', 'score': 10.37}, {'connected_gene': 'TKFC', 'score': 10.35}]
chr11 GH11I060898 60898877 60900098 0.92 [{'connected_gene': 'CPSF7', 'score': 19.58}, {'connected_gene': 'TMEM138', 'score': 16.37}, {'connected_gene': 'RN7SL23P', 'score': 15.65}, {'connected_gene': 'CCDC86', 'score': 12.03}, {'connected_gene': 'ENSG00000255959', 'score': 12.03}, {'connected_gene': 'TMEM109', 'score': 11.4}, {'connected_gene': 'PTGDR2', 'score': 11.08}, {'connected_gene': 'ENSG00000256813', 'score': 11.06}, {'connected_gene': 'MS4A10', 'score': 10.54}, {'connected_gene': 'PRPF19', 'score': 7.73}, {'connected_gene': 'PIR47747', 'score': 0.31}]
chr11 GH11I061566 61566952 61568233 1.28 [{'connected_gene': 'CPSF7', 'score': 19.67}, {'connected_gene': 'TMEM138', 'score': 16.41}, {'connected_gene': 'RN7SL23P', 'score': 15.74}, {'connected_gene': 'TMEM109', 'score': 11.03}, {'connected_gene': 'LOC105369331', 'score': 0.34}, {'connected_gene': 'SYT7', 'score': 0.34}, {'connected_gene': 'ENSG00000256443', 'score': 0.31}]
chr11 GH11I060909 60909359 60918120 2.74 [{'connected_gene': 'TMEM109', 'score': 555.54}, {'connected_gene': 'GC11M060911', 'score': 550.77}, {'connected_gene': 'LOC105369323', 'score': 550.77}, {'connected_gene': 'CD6', 'score': 12.23}, {'connected_gene': 'CD5', 'score': 10.42}, {'connected_gene': 'PRPF19', 'score': 9.11}, {'connected_gene': 'PTGDR2', 'score': 8.31}, {'connected_gene': 'SLC15A3', 'score': 5.32}, {'connected_gene': 'CYB561A3', 'score': 2.5}, {'connected_gene': 'VPS37C', 'score': 2.14}, {'connected_gene': 'ENSG00000257052', 'score': 0.44}, {'connected_gene': 'PIR49215', 'score': 0.44}, {'connected_gene': 'GC11P060908', 'score': 0.44}]
chr11 GH11I060919 60918409 60918558 0.46 [{'connected_gene': 'TMEM109', 'score': 0.77}, {'connected_gene': 'GC11P060921', 'score': 0.77}, {'connected_gene': 'GC11M060911', 'score': 0.77}, {'connected_gene': 'ENSG00000256196', 'score': 0.44}]
chr11 GH11I060923 60923829 60925889 1.94 [{'connected_gene': 'TMEM132A', 'score': 550.77}, {'connected_gene': 'ENSG00000256196', 'score': 550.77}, {'connected_gene': 'CPSF7', 'score': 19.58}, {'connected_gene': 'TMEM138', 'score': 16.37}, {'connected_gene': 'RN7SL23P', 'score': 15.65}, {'connected_gene': 'TMEM109', 'score': 11.4}, {'connected_gene': 'RNU6-933P', 'score': 10.52}, {'connected_gene': 'PTGDR2', 'score': 5.22}, {'connected_gene': 'GC11P060921', 'score': 0.77}]
chr11 GH11I060922 60922303 60923354 0.31 [{'connected_gene': 'TMEM132A', 'score': 550.77}, {'connected_gene': 'GC11P060921', 'score': 550.77}, {'connected_gene': 'RNU6-933P', 'score': 10.52}, {'connected_gene': 'ENSG00000256196', 'score': 0.77}, {'connected_gene': 'TMEM109', 'score': 0.44}]
chr11 GH11I061355 61355601 61364150 2.48 [{'connected_gene': 'TMEM138', 'score': 577.07}, {'connected_gene': 'CYB561A3', 'score': 550.77}, {'connected_gene': 'CPSF7', 'score': 31.52}, {'connected_gene': 'PRPF19', 'score': 13.88}, {'connected_gene': 'TMEM216', 'score': 13.0}, {'connected_gene': 'RN7SL23P', 'score': 12.96}, {'connected_gene': 'SDHAF2', 'score': 12.86}, {'connected_gene': 'VPS37C', 'score': 11.01}, {'connected_gene': 'TMEM109', 'score': 9.91}, {'connected_gene': 'ENSG00000279246', 'score': 0.44}]
chr11 GH11I060918 60918647 60920000 0.99 [{'connected_gene': 'SLC15A3', 'score': 11.89}, {'connected_gene': 'CD6', 'score': 11.87}, {'connected_gene': 'GC11P060921', 'score': 0.77}, {'connected_gene': 'GC11M060911', 'score': 0.77}, {'connected_gene': 'TMEM109', 'score': 0.44}, {'connected_gene': 'ENSG00000256196', 'score': 0.44}]