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
ENST00000355834 [[4291923, 4292079], [4301653, 4301824], [4303715, 4304818], [4322366, 4323512]] [[4301672, 4301824], [4303715, 4304818], [4322366, 4323043]]
ENST00000515012 [[4291977, 4292079], [4301653, 4301824], [4303715, 4304818], [4317362, 4317445], [4317535, 4317697], [4322366, 4323125]] [[4301672, 4301824], [4303715, 4304818], [4317362, 4317445], [4317535, 4317559]]
ENST00000538529 [[4291977, 4292079], [4301653, 4301824], [4303715, 4304818], [4317362, 4317445], [4317535, 4317697], [4322366, 4323125]] [[4317627, 4317697], [4322366, 4323043]]
ENST00000503703 [[4291977, 4292079], [4301653, 4301824], [4304037, 4304818], [4314767, 4314841], [4317362, 4317445], [4317535, 4317697], [4322366, 4323513]] [[4301672, 4301824], [4304037, 4304320]]
ENST00000337872 [[4291977, 4292079], [4301653, 4301824], [4303715, 4304818], [4307864, 4307911], [4314767, 4314841], [4317362, 4317445], [4317535, 4317697], [4322366, 4323513]] [[4301672, 4301824], [4303715, 4304818], [4307864, 4307911], [4314767, 4314841], [4317362, 4317445], [4317535, 4317697], [4322366, 4323043]]
ENST00000502918 [[4291995, 4292040], [4301653, 4301824], [4303715, 4304001]] [[4301672, 4301824], [4303715, 4304001]]
ENST00000504302 [[4304353, 4304818], [4322366, 4322424]] [[4304353, 4304818], [4322366, 4322424]]
ENST00000511458 [[4304458, 4304818], [4314767, 4314841], [4322366, 4322424]] [[4304458, 4304818], [4314767, 4314775]]
NM_001330625 [[4291923, 4292040], [4301653, 4301824], [4303715, 4304818], [4307864, 4307911], [4314767, 4314841], [4317362, 4317445], [4317535, 4317697], [4322366, 4323513]] [[4301672, 4301824], [4303715, 4304818], [4307864, 4307911], [4314767, 4314841], [4317362, 4317445], [4317535, 4317697], [4322366, 4323043]]
NR_138481 [[4291923, 4292079], [4301653, 4301824], [4303715, 4304818], [4317362, 4317445], [4317535, 4317697], [4322366, 4323513]] None
NM_145291 [[4291923, 4292079], [4301653, 4301824], [4303715, 4304818], [4307864, 4307911], [4314767, 4314841], [4317362, 4317445], [4317535, 4317697], [4322366, 4323513]] [[4301672, 4301824], [4303715, 4304818], [4307864, 4307911], [4314767, 4314841], [4317362, 4317445], [4317535, 4317697], [4322366, 4323043]]
Promoter
Chrom Start End Description
chr4 4291944 4292011 CAGE_peak_1_at_ZBTB49_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I004264 4264966 4272431 1.24 [{'connected_gene': 'TMEM128', 'score': 21.37}, {'connected_gene': 'LYAR', 'score': 16.48}, {'connected_gene': 'ZBTB49', 'score': 1.55}, {'connected_gene': 'GC04P004281', 'score': 0.39}]
chr4 GH04I003368 3368894 3372000 1.88 [{'connected_gene': 'RGS12', 'score': 555.01}, {'connected_gene': 'PIR55428', 'score': 550.77}, {'connected_gene': 'GC04M003368', 'score': 550.77}, {'connected_gene': 'NOP14-AS1', 'score': 14.49}, {'connected_gene': 'TMEM128', 'score': 14.14}, {'connected_gene': 'FAM193A', 'score': 13.56}, {'connected_gene': 'ZBTB49', 'score': 11.05}, {'connected_gene': 'PIR36896', 'score': 0.22}]
chr4 GH04I004323 4323298 4324910 1.05 [{'connected_gene': 'LYAR', 'score': 28.01}, {'connected_gene': 'ZBTB49', 'score': 21.67}, {'connected_gene': 'TMEM128', 'score': 11.01}, {'connected_gene': 'ENSG00000248516', 'score': 0.77}, {'connected_gene': 'PIR59167', 'score': 0.44}]
chr4 GH04I004288 4288775 4291201 1.99 [{'connected_gene': 'LYAR', 'score': 589.65}, {'connected_gene': 'ZBTB49', 'score': 558.35}, {'connected_gene': 'GC04P004281', 'score': 0.44}]
chr4 GH04I004308 4308366 4310361 0.2 [{'connected_gene': 'LYAR', 'score': 33.25}, {'connected_gene': 'ZBTB49', 'score': 9.17}, {'connected_gene': 'GC04M004314', 'score': 0.44}]
chr4 GH04I003491 3491301 3498091 0.82 [{'connected_gene': 'LRPAP1', 'score': 17.26}, {'connected_gene': 'ENSG00000261643', 'score': 16.0}, {'connected_gene': 'ZBTB49', 'score': 10.5}, {'connected_gene': 'FAM193A', 'score': 10.47}, {'connected_gene': 'MFSD10', 'score': 9.98}, {'connected_gene': 'DOK7', 'score': 5.05}, {'connected_gene': 'NOP14-AS1', 'score': 4.56}, {'connected_gene': 'GC04P003490', 'score': 0.77}]
chr4 GH04I003480 3480134 3487793 1.51 [{'connected_gene': 'LRPAP1', 'score': 13.43}, {'connected_gene': 'MFSD10', 'score': 12.33}, {'connected_gene': 'ZBTB49', 'score': 11.37}, {'connected_gene': 'ENSG00000261643', 'score': 11.27}, {'connected_gene': 'LINC00955', 'score': 10.88}, {'connected_gene': 'FAM193A', 'score': 9.85}, {'connected_gene': 'NOP14', 'score': 9.68}, {'connected_gene': 'DOK7', 'score': 8.41}, {'connected_gene': 'HTT-AS', 'score': 5.74}, {'connected_gene': 'MSANTD1', 'score': 4.57}, {'connected_gene': 'GC04M003478', 'score': 0.77}, {'connected_gene': 'GC04P003490', 'score': 0.44}]
chr4 GH04I003953 3953038 3957001 1.47 [{'connected_gene': 'FAM86EP', 'score': 562.14}, {'connected_gene': 'LOC105374358', 'score': 550.77}, {'connected_gene': 'ENSG00000253917', 'score': 550.77}, {'connected_gene': 'GC04P003954', 'score': 550.77}, {'connected_gene': 'ENSG00000271977', 'score': 15.96}, {'connected_gene': 'ZBTB49', 'score': 14.81}, {'connected_gene': 'ENPP7P9', 'score': 11.72}, {'connected_gene': 'STX18', 'score': 10.8}, {'connected_gene': 'TMEM128', 'score': 10.06}]
chr4 GH04I003472 3472215 3474085 0.43 [{'connected_gene': 'NOP14-AS1', 'score': 14.47}, {'connected_gene': 'FAM193A', 'score': 13.56}, {'connected_gene': 'ZBTB49', 'score': 11.05}, {'connected_gene': 'LINC00955', 'score': 10.87}, {'connected_gene': 'LRPAP1', 'score': 5.29}, {'connected_gene': 'DOK7', 'score': 4.84}, {'connected_gene': 'LOC105374355', 'score': 0.77}, {'connected_gene': 'GC04P003463', 'score': 0.44}]
chr4 GH04I003460 3460641 3464780 2 [{'connected_gene': 'DOK7', 'score': 584.85}, {'connected_gene': 'GC04P003463', 'score': 550.77}, {'connected_gene': 'ENSG00000261643', 'score': 5.29}, {'connected_gene': 'ZBTB49', 'score': 4.64}, {'connected_gene': 'HTT', 'score': 4.42}, {'connected_gene': 'LOC105374354', 'score': 0.39}]
chr4 GH04I004252 4252834 4252963 0.62 [{'connected_gene': 'ZBTB49', 'score': 12.33}, {'connected_gene': 'TMEM128', 'score': 0.77}, {'connected_gene': 'GC04P004281', 'score': 0.31}]
chr4 GH04I004277 4277148 4277902 0.31 [{'connected_gene': 'ZBTB49', 'score': 7.21}, {'connected_gene': 'GC04P004281', 'score': 0.77}, {'connected_gene': 'LYAR', 'score': 0.39}, {'connected_gene': 'TMEM128', 'score': 0.31}]
chr4 GH04I004491 4491496 4493261 0.87 [{'connected_gene': 'ZBTB49', 'score': 10.38}, {'connected_gene': 'NSG1', 'score': 10.05}, {'connected_gene': 'PIR62291', 'score': 0.44}, {'connected_gene': 'STX18-IT1', 'score': 0.39}, {'connected_gene': 'STX18', 'score': 0.25}]
chr4 GH04I004665 4665927 4669547 0.94 [{'connected_gene': 'ZBTB49', 'score': 10.75}, {'connected_gene': 'PIR32620', 'score': 0.34}, {'connected_gene': 'GC04M004686', 'score': 0.34}, {'connected_gene': 'STX18-AS1', 'score': 0.13}]
chr4 GH04I004659 4659252 4661064 0.96 [{'connected_gene': 'ZBTB49', 'score': 10.75}, {'connected_gene': 'PIR32620', 'score': 0.37}, {'connected_gene': 'GC04M004686', 'score': 0.31}, {'connected_gene': 'STX18-AS1', 'score': 0.13}]
chr4 GH04I003767 3767134 3767303 0.52 [{'connected_gene': 'ADRA2C', 'score': 550.77}, {'connected_gene': 'NOP14-AS1', 'score': 14.47}, {'connected_gene': 'STX18-AS1', 'score': 11.25}, {'connected_gene': 'ZBTB49', 'score': 11.05}, {'connected_gene': 'STX18', 'score': 10.68}, {'connected_gene': 'GC04P003863', 'score': 0.15}]
chr4 GH04I003765 3765068 3766801 1.94 [{'connected_gene': 'ADRA2C', 'score': 550.77}, {'connected_gene': 'NOP14-AS1', 'score': 14.47}, {'connected_gene': 'STX18-AS1', 'score': 11.25}, {'connected_gene': 'ZBTB49', 'score': 11.05}, {'connected_gene': 'STX18', 'score': 10.68}, {'connected_gene': 'ENSG00000250986', 'score': 0.77}]
chr4 GH04I004540 4540525 4543201 2.4 [{'connected_gene': 'STX18-AS1', 'score': 573.95}, {'connected_gene': 'STX18', 'score': 552.17}, {'connected_gene': 'TMEM128', 'score': 14.63}, {'connected_gene': 'FAM86EP', 'score': 13.2}, {'connected_gene': 'NSG1', 'score': 7.02}, {'connected_gene': 'ZBTB49', 'score': 1.79}, {'connected_gene': 'RPS7P15', 'score': 0.29}]
chr4 GH04I004852 4852512 4853701 0.85 [{'connected_gene': 'STX18-AS1', 'score': 11.28}, {'connected_gene': 'ZBTB49', 'score': 11.05}, {'connected_gene': 'STX18', 'score': 10.71}, {'connected_gene': 'LINC01396', 'score': 0.44}, {'connected_gene': 'MSX1', 'score': 0.44}]