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
ENST00000335390 [[62727355, 62728622], [62729571, 62729685], [62729825, 62729929], [62733164, 62733476]] [[62728343, 62728622], [62729571, 62729685], [62729825, 62729929], [62733164, 62733264]]
ENST00000479763 [[62727761, 62729685], [62729825, 62729929], [62738921, 62739029]] None
ENST00000494919 [[62727769, 62729685], [62729825, 62729929], [62733164, 62733604]] None
NM_198276 [[62727355, 62728622], [62729571, 62729685], [62729825, 62729929], [62733164, 62733604]] [[62728343, 62728622], [62729571, 62729685], [62729825, 62729929], [62733164, 62733264]]

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I062467 62467201 62468201 0.69 [{'connected_gene': 'EHBP1', 'score': 10.13}, {'connected_gene': 'TMEM17', 'score': 5.67}, {'connected_gene': 'ENSG00000228541', 'score': 0.77}, {'connected_gene': 'GC02P062494', 'score': 0.34}]
chr2 GH02I062450 62450906 62451015 0.84 [{'connected_gene': 'EHBP1', 'score': 10.09}, {'connected_gene': 'ENSG00000226622', 'score': 9.86}, {'connected_gene': 'CCT4', 'score': 9.43}, {'connected_gene': 'COMMD1', 'score': 9.43}, {'connected_gene': 'ENSG00000228541', 'score': 0.39}, {'connected_gene': 'TMEM17', 'score': 0.21}, {'connected_gene': 'GC02M062385', 'score': 0.2}]
chr2 GH02I062464 62464766 62466937 0.65 [{'connected_gene': 'TMEM17', 'score': 17.37}, {'connected_gene': 'USP34', 'score': 13.0}, {'connected_gene': 'XPO1', 'score': 12.71}, {'connected_gene': 'CCT4', 'score': 12.39}, {'connected_gene': 'RPL37P13', 'score': 11.57}, {'connected_gene': 'ENSG00000236498', 'score': 11.21}, {'connected_gene': 'ENSG00000226622', 'score': 10.38}, {'connected_gene': 'EHBP1', 'score': 10.35}, {'connected_gene': 'ENSG00000228541', 'score': 0.77}, {'connected_gene': 'GC02P062494', 'score': 0.31}]
chr2 GH02I062504 62504942 62507226 2.01 [{'connected_gene': 'TMEM17', 'score': 559.47}, {'connected_gene': 'RPL37P13', 'score': 550.77}, {'connected_gene': 'XPO1', 'score': 22.43}, {'connected_gene': 'ENSG00000226622', 'score': 15.97}, {'connected_gene': 'CCT4', 'score': 12.39}, {'connected_gene': 'ENSG00000236498', 'score': 11.21}, {'connected_gene': 'EHBP1', 'score': 10.17}, {'connected_gene': 'LOC100132215', 'score': 4.8}, {'connected_gene': 'OTX1', 'score': 4.65}, {'connected_gene': 'RN7SL18P', 'score': 0.39}]
chr2 GH02I062589 62589806 62589955 0.63 [{'connected_gene': 'TMEM17', 'score': 11.1}, {'connected_gene': 'RPL37P13', 'score': 11.09}, {'connected_gene': 'ENSG00000226622', 'score': 10.63}, {'connected_gene': 'OTX1', 'score': 6.93}, {'connected_gene': 'CCT4', 'score': 4.28}, {'connected_gene': 'GC02M062561', 'score': 0.31}, {'connected_gene': 'RSL24D1P2', 'score': 0.31}]
chr2 GH02I062473 62473453 62478895 1 [{'connected_gene': 'TMEM17', 'score': 17.15}, {'connected_gene': 'RPL37P13', 'score': 11.42}, {'connected_gene': 'ENSG00000226622', 'score': 10.28}, {'connected_gene': 'EHBP1', 'score': 10.25}, {'connected_gene': 'CCT4', 'score': 9.33}, {'connected_gene': 'COMMD1', 'score': 9.33}, {'connected_gene': 'ENSG00000228541', 'score': 0.39}, {'connected_gene': 'GC02P062494', 'score': 0.37}]
chr2 GH02I062538 62538738 62541783 0.87 [{'connected_gene': 'TMEM17', 'score': 11.42}, {'connected_gene': 'RPL37P13', 'score': 11.4}, {'connected_gene': 'EHBP1', 'score': 10.7}, {'connected_gene': 'ENSG00000226622', 'score': 10.63}, {'connected_gene': 'LOC100132215', 'score': 4.55}, {'connected_gene': 'RPL21P37', 'score': 0.44}, {'connected_gene': 'PSAT1P2', 'score': 0.39}]
chr2 GH02I062471 62471478 62472989 0.38 [{'connected_gene': 'TMEM17', 'score': 17.27}, {'connected_gene': 'RPL37P13', 'score': 11.4}, {'connected_gene': 'EHBP1', 'score': 9.96}, {'connected_gene': 'ENSG00000228541', 'score': 0.44}, {'connected_gene': 'GC02P062494', 'score': 0.37}]
chr2 GH02I062297 62295746 62297795 1.15 [{'connected_gene': 'B3GNT2', 'score': 25.71}, {'connected_gene': 'ENSG00000236498', 'score': 10.57}, {'connected_gene': 'TMEM17', 'score': 4.73}, {'connected_gene': 'LOC105374761', 'score': 0.29}, {'connected_gene': 'GC02M062151', 'score': 0.28}]
chr2 GH02I062488 62488865 62489895 0.76 [{'connected_gene': 'RN7SL18P', 'score': 550.77}, {'connected_gene': 'GC02P062494', 'score': 550.77}, {'connected_gene': 'TMEM17', 'score': 11.38}, {'connected_gene': 'ENSG00000226622', 'score': 9.58}, {'connected_gene': 'EHBP1', 'score': 9.54}, {'connected_gene': 'OTX1', 'score': 4.28}, {'connected_gene': 'LOC100132215', 'score': 3.98}, {'connected_gene': 'ENSG00000228541', 'score': 0.31}]
chr2 GH02I062409 62409602 62412815 1.09 [{'connected_gene': 'CCT4', 'score': 20.85}, {'connected_gene': 'COMMD1', 'score': 10.92}, {'connected_gene': 'USP34', 'score': 10.04}, {'connected_gene': 'TMEM17', 'score': 5.14}, {'connected_gene': 'GC02M062385', 'score': 0.31}, {'connected_gene': 'ENSG00000228541', 'score': 0.23}]
chr2 GH02I062456 62456532 62459850 1.19 [{'connected_gene': 'RPL37P13', 'score': 11.56}, {'connected_gene': 'TMEM17', 'score': 11.54}, {'connected_gene': 'ENSG00000226622', 'score': 10.38}, {'connected_gene': 'EHBP1', 'score': 10.35}, {'connected_gene': 'ENSG00000228541', 'score': 0.77}, {'connected_gene': 'GC02M062385', 'score': 0.19}]
chr2 GH02I062719 62719764 62722107 0.31 [{'connected_gene': 'ENSG00000226622', 'score': 18.33}, {'connected_gene': 'EHBP1', 'score': 11.0}, {'connected_gene': 'TMEM17', 'score': 10.61}, {'connected_gene': 'RPL37P13', 'score': 10.61}, {'connected_gene': 'ENSG00000252436', 'score': 0.44}]
chr2 GH02I062500 62500830 62502647 0.68 [{'connected_gene': 'ENSG00000226622', 'score': 14.43}, {'connected_gene': 'TMEM17', 'score': 7.64}, {'connected_gene': 'RPL37P13', 'score': 0.44}, {'connected_gene': 'RN7SL18P', 'score': 0.39}]
chr2 GH02I062485 62485467 62487350 0.98 [{'connected_gene': 'ENSG00000226622', 'score': 10.04}, {'connected_gene': 'TMEM17', 'score': 7.54}, {'connected_gene': 'LOC100132215', 'score': 4.55}, {'connected_gene': 'GC02P062494', 'score': 0.77}, {'connected_gene': 'ENSG00000228541', 'score': 0.34}]
chr2 GH02I062526 62526561 62526675 0.99 [{'connected_gene': 'ENSG00000226622', 'score': 10.76}, {'connected_gene': 'GC02P062531', 'score': 0.44}, {'connected_gene': 'TMEM17', 'score': 0.39}]