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
ENST00000495912 [[119883491, 119887231], [119892158, 119892317], [119962486, 119962623], [119962849, 119962967]] [[119892313, 119892317], [119962486, 119962623], [119962849, 119962945]]
ENST00000315843 [[119884327, 119887231], [119892158, 119892317], [119899971, 119900208], [119904145, 119904241], [119905504, 119905630], [119911785, 119911896], [119912141, 119912271], [119962486, 119962623], [119962849, 119963142]] [[119885878, 119887231], [119892158, 119892317], [119899971, 119900208], [119904145, 119904241], [119905504, 119905630], [119911785, 119911896], [119912141, 119912271], [119962486, 119962623], [119962849, 119962945]]
ENST00000464295 [[119884327, 119887231], [119892158, 119892317], [119899971, 119900208], [119904145, 119904241], [119905504, 119905630], [119911785, 119911896], [119912141, 119912271], [119962486, 119962623], [119962849, 119963325], [120003875, 120003941]] [[119885878, 119887231], [119892158, 119892317], [119899971, 119900208], [119904145, 119904241], [119905504, 119905630], [119911785, 119911896], [119912141, 119912271], [119962486, 119962623], [119962849, 119962945]]
ENST00000461057 [[119885804, 119887231], [119892158, 119892317], [119899971, 119900208], [119904145, 119904241], [119905516, 119905630], [119911785, 119911896], [119912141, 119912271], [119962486, 119962623], [119962849, 119962963]] [[119885878, 119887231], [119892158, 119892317], [119899971, 119900208], [119904145, 119904241], [119905516, 119905630], [119911785, 119911896], [119912141, 119912271], [119962486, 119962623], [119962849, 119962945]]
ENST00000481907 [[119961706, 119962623], [119962849, 119963325], [120003875, 120003921]] None
NM_153002 [[119884327, 119887231], [119892158, 119892317], [119899971, 119900208], [119904145, 119904241], [119905504, 119905630], [119911785, 119911896], [119912141, 119912271], [119962486, 119962623], [119962849, 119963142]] [[119885878, 119887231], [119892158, 119892317], [119899971, 119900208], [119904145, 119904241], [119905504, 119905630], [119911785, 119911896], [119912141, 119912271], [119962486, 119962623], [119962849, 119962945]]
NM_001168271 [[119884327, 119887231], [119892158, 119892317], [119899971, 119900208], [119904145, 119904241], [119905516, 119905630], [119911785, 119911896], [119912141, 119912271], [119962486, 119962623], [119962849, 119963142]] [[119885878, 119887231], [119892158, 119892317], [119899971, 119900208], [119904145, 119904241], [119905516, 119905630], [119911785, 119911896], [119912141, 119912271], [119962486, 119962623], [119962849, 119962945]]
Promoter
Chrom Start End Description
chr3 120004062 120004083 CAGE_peak_1_at_GPR156_5end
chr3 120004237 120004246 CAGE_peak_5_at_GPR156_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I120214 120214020 120214533 0.31 [{'connected_gene': 'LOC442087', 'score': 5.0}, {'connected_gene': 'CD80', 'score': 4.75}, {'connected_gene': 'ENSG00000206721', 'score': 0.77}, {'connected_gene': 'PIR62989', 'score': 0.29}, {'connected_gene': 'GPR156', 'score': 0.19}]
chr3 GH03I120135 120135336 120136179 0.76 [{'connected_gene': 'GSK3B', 'score': 7.77}, {'connected_gene': 'GPR156', 'score': 4.94}, {'connected_gene': 'PIR33291', 'score': 0.44}, {'connected_gene': 'RN7SL397P', 'score': 0.39}, {'connected_gene': 'ENSG00000242622', 'score': 0.26}]
chr3 GH03I120151 120151502 120154918 1.26 [{'connected_gene': 'GSK3B', 'score': 7.72}, {'connected_gene': 'GPR156', 'score': 4.42}, {'connected_gene': 'PIR46565', 'score': 0.77}, {'connected_gene': 'LOC105374065', 'score': 0.44}, {'connected_gene': 'GC03P120211', 'score': 0.22}]
chr3 GH03I120157 120157162 120164053 1.51 [{'connected_gene': 'GSK3B', 'score': 8.93}, {'connected_gene': 'GPR156', 'score': 4.78}, {'connected_gene': 'LOC100130701', 'score': 4.21}, {'connected_gene': 'PIR46565', 'score': 0.39}, {'connected_gene': 'LOC105374065', 'score': 0.39}, {'connected_gene': 'GC03P120211', 'score': 0.25}]
chr3 GH03I120175 120175836 120178797 1.11 [{'connected_gene': 'GSK3B', 'score': 8.27}, {'connected_gene': 'GPR156', 'score': 4.45}, {'connected_gene': 'LOC100130701', 'score': 4.23}, {'connected_gene': 'PIR46565', 'score': 0.31}, {'connected_gene': 'GC03P120211', 'score': 0.29}, {'connected_gene': 'LOC105374065', 'score': 0.29}]
chr3 GH03I120409 120409280 120411543 0.51 [{'connected_gene': 'GPR156', 'score': 6.84}, {'connected_gene': 'MIR198', 'score': 0.39}, {'connected_gene': 'FSTL1', 'score': 0.26}, {'connected_gene': 'LOC100130701', 'score': 0.21}]
chr3 GH03I120202 120202584 120203989 0.89 [{'connected_gene': 'GPR156', 'score': 15.19}, {'connected_gene': 'GSK3B', 'score': 7.54}, {'connected_gene': 'GC03P120211', 'score': 0.44}, {'connected_gene': 'PIR46565', 'score': 0.23}]
chr3 GH03I120404 120404400 120406975 0.2 [{'connected_gene': 'GPR156', 'score': 6.38}, {'connected_gene': 'LRRC58', 'score': 4.69}, {'connected_gene': 'MIR198', 'score': 0.44}, {'connected_gene': 'FSTL1', 'score': 0.25}, {'connected_gene': 'LOC100130701', 'score': 0.22}]
chr3 GH03I120344 120344330 120344767 0.49 [{'connected_gene': 'GPR156', 'score': 11.12}, {'connected_gene': 'LRRC58', 'score': 0.77}, {'connected_gene': 'GC03M120325', 'score': 0.37}]
chr3 GH03I120341 120341714 120341803 0.43 [{'connected_gene': 'GPR156', 'score': 11.12}, {'connected_gene': 'LRRC58', 'score': 0.44}, {'connected_gene': 'GC03M120325', 'score': 0.39}]
chr3 GH03I120416 120416037 120422714 1.36 [{'connected_gene': 'GPR156', 'score': 23.96}, {'connected_gene': 'FSTL1', 'score': 13.26}, {'connected_gene': 'LOC100130701', 'score': 7.58}, {'connected_gene': 'LRRC58', 'score': 6.29}, {'connected_gene': 'MIR198', 'score': 0.34}]
chr3 GH03I120244 120244354 120244523 0.75 [{'connected_gene': 'GPR156', 'score': 18.38}, {'connected_gene': 'PIR62989', 'score': 0.77}, {'connected_gene': 'ENSG00000206721', 'score': 0.29}]
chr3 GH03I120275 120275714 120275863 0.38 [{'connected_gene': 'GPR156', 'score': 0.44}, {'connected_gene': 'PIR62989', 'score': 0.31}]
chr3 GH03I120274 120274670 120275227 0.88 [{'connected_gene': 'GPR156', 'score': 0.39}, {'connected_gene': 'PIR62989', 'score': 0.31}]
chr3 GH03I120284 120284800 120285601 0.76 [{'connected_gene': 'GPR156', 'score': 555.95}, {'connected_gene': 'PIR32890', 'score': 550.77}]
chr3 GH03I119626 119626787 119631999 1.5 [{'connected_gene': 'ADPRH', 'score': 32.83}, {'connected_gene': 'MAATS1', 'score': 19.08}, {'connected_gene': 'RPL10P7', 'score': 16.7}, {'connected_gene': 'COX17', 'score': 13.97}, {'connected_gene': 'CD80', 'score': 12.06}, {'connected_gene': 'POPDC2', 'score': 11.76}, {'connected_gene': 'ARHGAP31', 'score': 11.07}, {'connected_gene': 'PLA1A', 'score': 5.9}, {'connected_gene': 'GPR156', 'score': 5.1}, {'connected_gene': 'GSK3B', 'score': 1.98}, {'connected_gene': 'GC03M119637', 'score': 0.44}, {'connected_gene': 'LOC105374062', 'score': 0.34}]
chr3 GH03I119612 119612368 119617120 0.31 [{'connected_gene': 'ADPRH', 'score': 24.93}, {'connected_gene': 'POPDC2', 'score': 11.88}, {'connected_gene': 'CD80', 'score': 11.4}, {'connected_gene': 'COX17', 'score': 7.53}, {'connected_gene': 'RPL10P7', 'score': 5.87}, {'connected_gene': 'GPR156', 'score': 5.68}, {'connected_gene': 'LOC105374062', 'score': 0.44}, {'connected_gene': 'PLA1A', 'score': 0.37}, {'connected_gene': 'GC03M119637', 'score': 0.34}]
chr3 GH03I120412 120412681 120413840 0.2 [{'connected_gene': 'LRRC58', 'score': 6.25}, {'connected_gene': 'GPR156', 'score': 5.16}, {'connected_gene': 'MIR198', 'score': 0.37}, {'connected_gene': 'FSTL1', 'score': 0.28}, {'connected_gene': 'LOC100130701', 'score': 0.21}]
chr3 GH03I120507 120507001 120507599 0.69 [{'connected_gene': 'FSTL1', 'score': 11.62}, {'connected_gene': 'GPR156', 'score': 9.99}, {'connected_gene': 'RPL34P9', 'score': 4.88}, {'connected_gene': 'ENSG00000240774', 'score': 0.34}]
chr3 GH03I120503 120503746 120504805 0.38 [{'connected_gene': 'FSTL1', 'score': 12.29}, {'connected_gene': 'GPR156', 'score': 10.0}, {'connected_gene': 'RPL34P9', 'score': 0.44}, {'connected_gene': 'ENSG00000240774', 'score': 0.37}]
chr3 GH03I120422 120422912 120428399 0.86 [{'connected_gene': 'FSTL1', 'score': 12.96}, {'connected_gene': 'GPR156', 'score': 12.14}, {'connected_gene': 'LOC100130701', 'score': 7.46}, {'connected_gene': 'LRRC58', 'score': 4.71}, {'connected_gene': 'GSK3B', 'score': 4.42}, {'connected_gene': 'ADPRH', 'score': 4.13}, {'connected_gene': 'MIR198', 'score': 0.31}]
chr3 GH03I120143 120143820 120149742 1.5 [{'connected_gene': 'LOC105374065', 'score': 550.77}, {'connected_gene': 'GSK3B', 'score': 9.24}, {'connected_gene': 'LOC100130701', 'score': 6.78}, {'connected_gene': 'GPR156', 'score': 5.01}, {'connected_gene': 'COX17', 'score': 1.76}, {'connected_gene': 'PIR46565', 'score': 0.77}]
chr3 GH03I120169 120169370 120172429 0.82 [{'connected_gene': 'LOC100130701', 'score': 24.34}, {'connected_gene': 'GSK3B', 'score': 8.27}, {'connected_gene': 'PIR46565', 'score': 0.34}, {'connected_gene': 'LOC105374065', 'score': 0.31}, {'connected_gene': 'GC03P120211', 'score': 0.28}, {'connected_gene': 'GPR156', 'score': 0.14}]
chr3 GH03I120428 120428737 120431104 0.51 [{'connected_gene': 'LOC100130701', 'score': 6.41}, {'connected_gene': 'GPR156', 'score': 5.52}, {'connected_gene': 'FSTL1', 'score': 0.34}, {'connected_gene': 'MIR198', 'score': 0.29}]
chr3 GH03I120347 120347723 120351131 2.04 [{'connected_gene': 'LOC100130701', 'score': 575.85}, {'connected_gene': 'LRRC58', 'score': 550.77}, {'connected_gene': 'GPR156', 'score': 18.99}, {'connected_gene': 'TMEM39A', 'score': 11.91}, {'connected_gene': 'MAATS1', 'score': 10.11}, {'connected_gene': 'LOC442087', 'score': 5.63}]
chr3 GH03I120111 120111090 120115489 0.89 [{'connected_gene': 'GC03M120113', 'score': 550.77}, {'connected_gene': 'GSK3B', 'score': 5.81}, {'connected_gene': 'LOC100130701', 'score': 5.61}, {'connected_gene': 'GPR156', 'score': 4.69}, {'connected_gene': 'PIR36596', 'score': 0.77}, {'connected_gene': 'ENSG00000242622', 'score': 0.37}]
chr3 GH03I120215 120215134 120215283 0.49 [{'connected_gene': 'ENSG00000206721', 'score': 0.77}, {'connected_gene': 'PIR62989', 'score': 0.29}, {'connected_gene': 'GPR156', 'score': 0.2}]