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
ENST00000507402 [[80597408, 80597489], [80604379, 80604530], [80604764, 80604857], [80607029, 80607098], [80608362, 80608736]] None
ENST00000254037 [[80597421, 80600960], [80604379, 80604530], [80604764, 80604857], [80607029, 80607098], [80608362, 80609116]] [[80600576, 80600960], [80604379, 80604530], [80604764, 80604857], [80607029, 80607098], [80608362, 80608481]]
ENST00000407610 [[80597430, 80597517], [80600559, 80600960], [80604379, 80604530], [80604764, 80604857], [80607029, 80607098], [80608362, 80609116]] [[80600576, 80600960], [80604379, 80604530], [80604764, 80604857], [80607029, 80607098], [80608362, 80608481]]
ENST00000506458 [[80597441, 80597517], [80604379, 80604530], [80604764, 80604857], [80607029, 80607098], [80608362, 80608791]] None
ENST00000380199 [[80597442, 80597489], [80600559, 80600960], [80604379, 80604530], [80604764, 80604857], [80607029, 80607098], [80608362, 80608973]] [[80600576, 80600960], [80604379, 80604530], [80604764, 80604857], [80607029, 80607098], [80608362, 80608481]]
ENST00000438268 [[80597459, 80597874], [80600559, 80600960], [80604379, 80604530], [80604764, 80604857], [80607029, 80607098], [80608362, 80608481]] [[80600576, 80600960], [80604379, 80604530], [80604764, 80604857], [80607029, 80607098], [80608362, 80608481]]
ENST00000504502 [[80597480, 80597517], [80604379, 80604530], [80604764, 80604977]] None
ENST00000505860 [[80604225, 80604530], [80604764, 80604857], [80607029, 80607098], [80608362, 80608433]] None
ENST00000510227 [[80604486, 80604857], [80607029, 80607098], [80608362, 80608792]] None
NM_001131036 [[80597401, 80597489], [80600559, 80600960], [80604379, 80604530], [80604764, 80604857], [80607029, 80607098], [80608362, 80608966]] [[80600576, 80600960], [80604379, 80604530], [80604764, 80604857], [80607029, 80607098], [80608362, 80608481]]
NM_001131035 [[80597401, 80597517], [80600559, 80600960], [80604379, 80604530], [80604764, 80604857], [80607029, 80607098], [80608362, 80608966]] [[80600576, 80600960], [80604379, 80604530], [80604764, 80604857], [80607029, 80607098], [80608362, 80608481]]
NM_032280 [[80597401, 80597874], [80600559, 80600960], [80604379, 80604530], [80604764, 80604857], [80607029, 80607098], [80608362, 80608966]] [[80600576, 80600960], [80604379, 80604530], [80604764, 80604857], [80607029, 80607098], [80608362, 80608481]]
Promoter
Chrom Start End Description
chr5 80597398 80597418 CAGE_peak_2_at_ZCCHC9_5end
chr5 80597419 80597448 CAGE_peak_1_at_ZCCHC9_5end
chr5 80597453 80597475 CAGE_peak_3_at_ZCCHC9_5end
chr5 80597480 80597485 CAGE_peak_4_at_ZCCHC9_5end
chr5 80597812 80597820 CAGE_peak_5_at_ZCCHC9_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr5 GH05I082274 82274157 82275562 0.74 [{'connected_gene': 'ATP6AP1L', 'score': 77.22}, {'connected_gene': 'ZCCHC9', 'score': 24.81}, {'connected_gene': 'CKMT2-AS1', 'score': 18.99}, {'connected_gene': 'GC05M082258', 'score': 0.77}, {'connected_gene': 'GC05P082278', 'score': 0.77}, {'connected_gene': 'RPS23', 'score': 0.77}, {'connected_gene': 'ENSG00000251374', 'score': 0.44}, {'connected_gene': 'ATG10', 'score': 0.06}]
chr5 GH05I082276 82276179 82279774 2.02 [{'connected_gene': 'ATP6AP1L', 'score': 627.64}, {'connected_gene': 'RPS23', 'score': 560.73}, {'connected_gene': 'GC05M082258', 'score': 550.77}, {'connected_gene': 'GC05P082278', 'score': 550.77}, {'connected_gene': 'ZCCHC9', 'score': 36.71}, {'connected_gene': 'ATG10', 'score': 22.77}, {'connected_gene': 'CKMT2-AS1', 'score': 10.43}, {'connected_gene': 'ENSG00000251374', 'score': 0.39}]
chr5 GH05I081653 81653945 81654961 0.2 [{'connected_gene': 'ZCCHC9', 'score': 4.56}, {'connected_gene': 'SSBP2', 'score': 0.15}, {'connected_gene': 'GC05M081517', 'score': 0.12}]
chr5 GH05I081683 81683375 81684784 0.2 [{'connected_gene': 'ZCCHC9', 'score': 4.56}, {'connected_gene': 'SSBP2', 'score': 0.2}, {'connected_gene': 'GC05M081517', 'score': 0.1}]
chr5 GH05I081786 81786053 81789399 0.92 [{'connected_gene': 'ZCCHC9', 'score': 11.77}, {'connected_gene': 'ATG10-AS1', 'score': 9.48}, {'connected_gene': 'SSBP2', 'score': 0.28}, {'connected_gene': 'ENSG00000249483', 'score': 0.21}]
chr5 GH05I081352 81352887 81355101 0.88 [{'connected_gene': 'ZCCHC9', 'score': 16.66}, {'connected_gene': 'CKMT2-AS1', 'score': 16.06}, {'connected_gene': 'ACOT12', 'score': 11.78}, {'connected_gene': 'CKMT2', 'score': 10.08}, {'connected_gene': 'GC05M081320', 'score': 0.31}]
chr5 GH05I081299 81299266 81300191 0.72 [{'connected_gene': 'ZCCHC9', 'score': 550.77}, {'connected_gene': 'CKMT2-AS1', 'score': 550.77}, {'connected_gene': 'ENSG00000248794', 'score': 0.22}]
chr5 GH05I081748 81748306 81752772 2.3 [{'connected_gene': 'SSBP2', 'score': 550.77}, {'connected_gene': 'ZCCHC9', 'score': 28.47}, {'connected_gene': 'CKMT2-AS1', 'score': 11.71}, {'connected_gene': 'RPS23', 'score': 11.63}, {'connected_gene': 'ATG10', 'score': 10.14}, {'connected_gene': 'GC05M081517', 'score': 0.07}]
chr5 GH05I080654 80652842 80656635 2.02 [{'connected_gene': 'DHFR', 'score': 618.66}, {'connected_gene': 'MSH3', 'score': 580.73}, {'connected_gene': 'GC05P080655', 'score': 550.77}, {'connected_gene': 'CKMT2-AS1', 'score': 12.75}, {'connected_gene': 'ZCCHC9', 'score': 10.63}]
chr5 GH05I080487 80487108 80490800 2.01 [{'connected_gene': 'LOC105379049', 'score': 550.77}, {'connected_gene': 'FAM151B', 'score': 550.77}, {'connected_gene': 'ZCCHC9', 'score': 25.34}, {'connected_gene': 'PAPD4', 'score': 15.85}, {'connected_gene': 'CKMT2-AS1', 'score': 15.85}, {'connected_gene': 'MTX3', 'score': 10.47}, {'connected_gene': 'ZFYVE16', 'score': 6.07}, {'connected_gene': 'DHFR', 'score': 5.33}, {'connected_gene': 'RPS27AP9', 'score': 0.39}]
chr5 GH05I081267 81267974 81270462 0.95 [{'connected_gene': 'CKMT2-AS1', 'score': 33.45}, {'connected_gene': 'ZCCHC9', 'score': 11.34}, {'connected_gene': 'CKMT2', 'score': 10.93}, {'connected_gene': 'ENSG00000248794', 'score': 8.82}]
chr5 GH05I081300 81300325 81305031 2.08 [{'connected_gene': 'CKMT2-AS1', 'score': 596.33}, {'connected_gene': 'ZCCHC9', 'score': 573.63}, {'connected_gene': 'ENSG00000248794', 'score': 12.05}, {'connected_gene': 'GC05M081320', 'score': 0.34}]
chr5 GH05I081849 81849603 81854406 2.07 [{'connected_gene': 'ENSG00000249483', 'score': 550.77}, {'connected_gene': 'ZCCHC9', 'score': 11.75}, {'connected_gene': 'ATP6AP1L', 'score': 8.6}, {'connected_gene': 'SSBP2', 'score': 5.53}, {'connected_gene': 'PPIAP11', 'score': 4.64}, {'connected_gene': 'SEM1P1', 'score': 0.26}]
chr5 GH05I081314 81314823 81316507 0.38 [{'connected_gene': 'ENSG00000248794', 'score': 11.9}, {'connected_gene': 'GC05M081320', 'score': 0.44}, {'connected_gene': 'ZCCHC9', 'score': 0.39}]