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
ENST00000381077 [[6966960, 6968513], [6995260, 6995490], [7023660, 7023879], [7066093, 7066231]] [[6968336, 6968513], [6995260, 6995490], [7023660, 7023879], [7066093, 7066154]]
ENST00000412827 [[6967558, 6968513], [6995260, 6995490], [7023789, 7023879], [7066093, 7066194]] [[6968336, 6968513], [6995260, 6995490], [7023789, 7023879], [7066093, 7066154]]
ENST00000424830 [[6967803, 6968513], [6995260, 6995490], [7023660, 7023879], [7035006, 7035075], [7066093, 7066199]] [[6968336, 6968513], [6995260, 6995490], [7023660, 7023879], [7035006, 7035075], [7066093, 7066154]]
ENST00000540122 [[6975626, 6975864], [6995260, 6995490], [7023660, 7023879], [7066093, 7066231]] [[6975747, 6975864], [6995260, 6995490], [7023660, 7023879], [7066093, 7066154]]
ENST00000486446 [[6975800, 6975864], [6995260, 6995490], [7023660, 7023879], [7066093, 7066166]] [[6975800, 6975864], [6995260, 6995490], [7023660, 7023879], [7066093, 7066154]]
ENST00000498474 [[7002791, 7003512], [7023660, 7023879], [7066093, 7066193]] None
NM_001135565 [[6966960, 6968513], [6995260, 6995490], [7023660, 7023879], [7035006, 7035075], [7066093, 7066231]] [[6968336, 6968513], [6995260, 6995490], [7023660, 7023879], [7035006, 7035075], [7066093, 7066154]]
NM_012080 [[6966960, 6968513], [6995260, 6995490], [7023660, 7023879], [7066093, 7066231]] [[6968336, 6968513], [6995260, 6995490], [7023660, 7023879], [7066093, 7066154]]
NM_001178136 [[6966960, 6968513], [6995260, 6995490], [7023789, 7023879], [7066093, 7066231]] [[6968336, 6968513], [6995260, 6995490], [7023789, 7023879], [7066093, 7066154]]
NM_001178135 [[6975626, 6975864], [6995260, 6995490], [7023660, 7023879], [7066093, 7066231]] [[6975747, 6975864], [6995260, 6995490], [7023660, 7023879], [7066093, 7066154]]
Promoter
Chrom Start End Description
chrX 7066159 7066207 CAGE_peak_1_at_HDHD1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chrX GH0XI007152 7152915 7154595 0.43 [{'connected_gene': 'PUDP', 'score': 10.82}, {'connected_gene': 'STS', 'score': 0.44}, {'connected_gene': 'GC0XP007191', 'score': 0.28}, {'connected_gene': 'GC0XP007190', 'score': 0.28}]
chrX GH0XI007251 7251401 7251600 0.2 [{'connected_gene': 'PUDP', 'score': 7.13}, {'connected_gene': 'STS', 'score': 6.34}, {'connected_gene': 'GC0XP007237', 'score': 0.39}, {'connected_gene': 'ENSG00000279682', 'score': 0.07}]
chrX GH0XI007082 7082745 7084799 1.17 [{'connected_gene': 'PUDP', 'score': 8.36}, {'connected_gene': 'STS', 'score': 4.9}, {'connected_gene': 'ENSG00000228550', 'score': 0.31}, {'connected_gene': 'GC0XP007028', 'score': 0.22}]
chrX GH0XI007158 7158991 7159872 0.69 [{'connected_gene': 'PUDP', 'score': 7.99}, {'connected_gene': 'STS', 'score': 0.39}, {'connected_gene': 'GC0XP007191', 'score': 0.29}, {'connected_gene': 'GC0XP007190', 'score': 0.29}]
chrX GH0XI007096 7096666 7097485 0.2 [{'connected_gene': 'PUDP', 'score': 8.39}, {'connected_gene': 'STS', 'score': 5.91}, {'connected_gene': 'ENSG00000228550', 'score': 0.37}, {'connected_gene': 'GC0XP007028', 'score': 0.2}]
chrX GH0XI007261 7261601 7262200 0.97 [{'connected_gene': 'PUDP', 'score': 4.43}, {'connected_gene': 'GC0XP007237', 'score': 0.34}, {'connected_gene': 'STS', 'score': 0.13}, {'connected_gene': 'ENSG00000279682', 'score': 0.07}]
chrX GH0XI007144 7144401 7144600 0.58 [{'connected_gene': 'PUDP', 'score': 0.77}, {'connected_gene': 'STS', 'score': 0.77}, {'connected_gene': 'GC0XM007135', 'score': 0.44}]
chrX GH0XI007252 7252001 7253351 0.58 [{'connected_gene': 'PUDP', 'score': 10.65}, {'connected_gene': 'GC0XP007237', 'score': 0.37}, {'connected_gene': 'STS', 'score': 0.14}, {'connected_gene': 'ENSG00000279682', 'score': 0.07}]
chrX GH0XI007198 7198080 7198961 0.2 [{'connected_gene': 'PUDP', 'score': 7.83}, {'connected_gene': 'GC0XP007191', 'score': 0.44}, {'connected_gene': 'GC0XP007190', 'score': 0.44}, {'connected_gene': 'GC0XP007237', 'score': 0.28}, {'connected_gene': 'STS', 'score': 0.23}]
chrX GH0XI007317 7317830 7318943 0.31 [{'connected_gene': 'PUDP', 'score': 4.52}, {'connected_gene': 'GC0XP007237', 'score': 0.18}, {'connected_gene': 'ENSG00000279682', 'score': 0.09}, {'connected_gene': 'STS', 'score': 0.09}]
chrX GH0XI006958 6958630 6959527 0.31 [{'connected_gene': 'PUDP', 'score': 8.0}, {'connected_gene': 'GC0XP006948', 'score': 0.39}, {'connected_gene': 'RPS27AP17', 'score': 0.29}]
chrX GH0XI007145 7145401 7149220 2.35 [{'connected_gene': 'PUDP', 'score': 559.12}, {'connected_gene': 'MIR4767', 'score': 550.77}, {'connected_gene': 'STS', 'score': 550.77}]
chrX GH0XI007108 7108142 7111949 1.21 [{'connected_gene': 'PUDP', 'score': 11.05}, {'connected_gene': 'ENSG00000228550', 'score': 0.77}, {'connected_gene': 'GC0XP007028', 'score': 0.18}]
chrX GH0XI007059 7059020 7060472 0.93 [{'connected_gene': 'PUDP', 'score': 11.1}, {'connected_gene': 'GC0XP007028', 'score': 0.29}, {'connected_gene': 'ENSG00000228550', 'score': 0.23}]
chrX GH0XI007089 7089080 7089249 0.74 [{'connected_gene': 'PUDP', 'score': 8.26}, {'connected_gene': 'ENSG00000228550', 'score': 0.34}, {'connected_gene': 'GC0XP007028', 'score': 0.21}]
chrX GH0XI007119 7119734 7122117 1.16 [{'connected_gene': 'PUDP', 'score': 11.61}, {'connected_gene': 'ENSG00000228550', 'score': 0.44}, {'connected_gene': 'GC0XM007135', 'score': 0.37}]
chrX GH0XI007057 7057535 7058343 0.2 [{'connected_gene': 'PUDP', 'score': 11.09}, {'connected_gene': 'GC0XP007028', 'score': 0.31}, {'connected_gene': 'ENSG00000228550', 'score': 0.22}]
chrX GH0XI007106 7106611 7107700 0.2 [{'connected_gene': 'PUDP', 'score': 11.25}, {'connected_gene': 'ENSG00000228550', 'score': 0.44}, {'connected_gene': 'GC0XP007028', 'score': 0.18}]
chrX GH0XI007070 7070761 7072814 0.52 [{'connected_gene': 'PUDP', 'score': 11.02}, {'connected_gene': 'ENSG00000228550', 'score': 0.26}, {'connected_gene': 'GC0XP007028', 'score': 0.26}]
chrX GH0XI007078 7078525 7080903 0.2 [{'connected_gene': 'PUDP', 'score': 11.44}, {'connected_gene': 'ENSG00000228550', 'score': 0.29}, {'connected_gene': 'GC0XP007028', 'score': 0.23}]
chrX GH0XI007051 7051425 7053537 0.2 [{'connected_gene': 'PUDP', 'score': 8.19}, {'connected_gene': 'GC0XP007028', 'score': 0.34}, {'connected_gene': 'ENSG00000228550', 'score': 0.21}]
chrX GH0XI007117 7117647 7117909 0.88 [{'connected_gene': 'PUDP', 'score': 1.75}, {'connected_gene': 'ENSG00000228550', 'score': 0.77}, {'connected_gene': 'GC0XM007135', 'score': 0.34}]
chrX GH0XI007118 7118610 7119609 0.2 [{'connected_gene': 'PUDP', 'score': 8.35}, {'connected_gene': 'ENSG00000228550', 'score': 0.44}, {'connected_gene': 'GC0XM007135', 'score': 0.37}]
chrX GH0XI007043 7043800 7045503 0.6 [{'connected_gene': 'PUDP', 'score': 11.01}, {'connected_gene': 'GC0XP007028', 'score': 0.37}, {'connected_gene': 'ENSG00000228550', 'score': 0.2}]
chrX GH0XI007085 7085801 7086928 1.02 [{'connected_gene': 'PUDP', 'score': 11.2}, {'connected_gene': 'ENSG00000228550', 'score': 0.31}, {'connected_gene': 'GC0XP007028', 'score': 0.22}]
chrX GH0XI007048 7048886 7049594 0.31 [{'connected_gene': 'PUDP', 'score': 11.01}, {'connected_gene': 'GC0XP007028', 'score': 0.34}, {'connected_gene': 'ENSG00000228550', 'score': 0.21}]
chrX GH0XI007061 7061683 7067865 0.59 [{'connected_gene': 'PUDP', 'score': 11.61}, {'connected_gene': 'GC0XP007028', 'score': 0.28}, {'connected_gene': 'ENSG00000228550', 'score': 0.25}]
chrX GH0XI007054 7054640 7056742 0.76 [{'connected_gene': 'PUDP', 'score': 8.33}, {'connected_gene': 'GC0XP007028', 'score': 0.31}, {'connected_gene': 'ENSG00000228550', 'score': 0.22}]
chrX GH0XI007099 7099312 7100597 0.2 [{'connected_gene': 'PUDP', 'score': 11.51}, {'connected_gene': 'ENSG00000228550', 'score': 0.39}, {'connected_gene': 'GC0XP007028', 'score': 0.19}]
chrX GH0XI006930 6930125 6930772 0.31 [{'connected_gene': 'PUDP', 'score': 7.78}, {'connected_gene': 'GC0XP006948', 'score': 0.37}, {'connected_gene': 'ENSG00000231217', 'score': 0.08}]
chrX GH0XI007073 7073393 7075416 0.63 [{'connected_gene': 'PUDP', 'score': 11.12}, {'connected_gene': 'ENSG00000228550', 'score': 0.28}, {'connected_gene': 'GC0XP007028', 'score': 0.25}]
chrX GH0XI007131 7131454 7133962 1.29 [{'connected_gene': 'PUDP', 'score': 11.68}, {'connected_gene': 'GC0XM007135', 'score': 0.44}, {'connected_gene': 'ENSG00000228550', 'score': 0.37}]
chrX GH0XI007218 7218795 7220480 1.06 [{'connected_gene': 'STS', 'score': 550.19}, {'connected_gene': 'PUDP', 'score': 7.15}, {'connected_gene': 'GC0XP007237', 'score': 0.37}, {'connected_gene': 'GC0XP007191', 'score': 0.31}, {'connected_gene': 'GC0XP007190', 'score': 0.31}]
chrX GH0XI007138 7138660 7140134 0.43 [{'connected_gene': 'GC0XM007135', 'score': 550.77}, {'connected_gene': 'PUDP', 'score': 8.52}, {'connected_gene': 'STS', 'score': 0.44}]
chrX GH0XI007069 7069060 7069209 0.8 [{'connected_gene': 'ENSG00000228550', 'score': 0.26}, {'connected_gene': 'GC0XP007028', 'score': 0.26}, {'connected_gene': 'PUDP', 'score': 0.18}]
chrX GH0XI007091 7091966 7092345 0.51 [{'connected_gene': 'ENSG00000228550', 'score': 0.34}, {'connected_gene': 'PUDP', 'score': 0.22}, {'connected_gene': 'GC0XP007028', 'score': 0.21}]
chrX GH0XI007090 7089300 7089449 0.69 [{'connected_gene': 'ENSG00000228550', 'score': 0.34}, {'connected_gene': 'PUDP', 'score': 0.22}, {'connected_gene': 'GC0XP007028', 'score': 0.21}]
chrX GH0XI007093 7090320 7091718 1.05 [{'connected_gene': 'ENSG00000228550', 'score': 0.34}, {'connected_gene': 'PUDP', 'score': 0.22}, {'connected_gene': 'GC0XP007028', 'score': 0.21}]
chrX GH0XI007088 7088900 7089049 0.74 [{'connected_gene': 'ENSG00000228550', 'score': 0.34}, {'connected_gene': 'PUDP', 'score': 0.22}, {'connected_gene': 'GC0XP007028', 'score': 0.21}]
chrX GH0XI007076 7076260 7076409 0.51 [{'connected_gene': 'ENSG00000228550', 'score': 0.28}, {'connected_gene': 'GC0XP007028', 'score': 0.25}, {'connected_gene': 'PUDP', 'score': 0.19}]
chrX GH0XI007075 7075474 7076107 0.31 [{'connected_gene': 'ENSG00000228550', 'score': 0.28}, {'connected_gene': 'GC0XP007028', 'score': 0.25}, {'connected_gene': 'PUDP', 'score': 0.19}]
chrX GH0XI007115 7115160 7115955 1.15 [{'connected_gene': 'ENSG00000228550', 'score': 0.77}, {'connected_gene': 'GC0XM007135', 'score': 0.34}, {'connected_gene': 'PUDP', 'score': 0.29}]
chrX GH0XI007094 7094609 7096430 0.2 [{'connected_gene': 'ENSG00000228550', 'score': 0.37}, {'connected_gene': 'PUDP', 'score': 0.23}, {'connected_gene': 'GC0XP007028', 'score': 0.2}]
chrX GH0XI007087 7087240 7087633 0.31 [{'connected_gene': 'ENSG00000228550', 'score': 0.31}, {'connected_gene': 'GC0XP007028', 'score': 0.22}, {'connected_gene': 'PUDP', 'score': 0.21}]
chrX GH0XI007092 7089601 7089800 0.4 [{'connected_gene': 'ENSG00000228550', 'score': 0.34}, {'connected_gene': 'PUDP', 'score': 0.22}, {'connected_gene': 'GC0XP007028', 'score': 0.21}]