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
ENST00000444040 [[72798429, 72799987], [72842066, 72842187], [72861821, 72861945], [72864500, 72864554], [72866380, 72866535], [72873574, 72873702], [72881519, 72881632], [72890195, 72890350], [72891430, 72891553], [72893509, 72893604], [72897348, 72897566]] [[72893594, 72893604], [72897348, 72897491]]
ENST00000325599 [[72798429, 72799987], [72842066, 72842187], [72861821, 72861945], [72864500, 72864554], [72866380, 72866535], [72873574, 72873702], [72881519, 72881632], [72890195, 72890350], [72891430, 72891553], [72893509, 72893574], [72897348, 72897631]] [[72799434, 72799987], [72842066, 72842187], [72861821, 72861945], [72864500, 72864554], [72866380, 72866535], [72873574, 72873702], [72881519, 72881632], [72890195, 72890350], [72891430, 72891553], [72893509, 72893574], [72897348, 72897491]]
ENST00000463369 [[72799109, 72799987], [72842066, 72842187], [72861821, 72861945], [72864500, 72864554], [72866380, 72866535], [72873574, 72873702], [72881519, 72881632], [72890195, 72890350], [72891430, 72891553], [72893509, 72893574], [72895365, 72895514]] [[72799434, 72799987], [72842066, 72842187], [72861821, 72861945], [72864500, 72864554], [72866380, 72866535], [72873574, 72873702], [72881519, 72881632], [72890195, 72890350], [72891430, 72891553], [72893509, 72893574], [72895365, 72895424]]
ENST00000468371 [[72798427, 72799987], [72842066, 72842187], [72842398, 72844741]] None
ENST00000475558 [[72858770, 72859103], [72861821, 72861945], [72864500, 72864554], [72866380, 72866535]] None
ENST00000468347 [[72863647, 72863706], [72864500, 72864554], [72866380, 72866401]] None
ENST00000482785 [[72881519, 72881632], [72890195, 72890350], [72891430, 72891553], [72893509, 72893574], [72911019, 72911065]] [[72881519, 72881632], [72890195, 72890350], [72891430, 72891494]]
ENST00000471526 [[72890195, 72890350], [72891430, 72891553], [72897348, 72897623]] [[72891504, 72891553], [72897348, 72897491]]
NM_018130 [[72798427, 72799987], [72842066, 72842187], [72861821, 72861945], [72864500, 72864554], [72866380, 72866535], [72873574, 72873702], [72881519, 72881632], [72890195, 72890350], [72891430, 72891553], [72893509, 72893574], [72897348, 72897598]] [[72799434, 72799987], [72842066, 72842187], [72861821, 72861945], [72864500, 72864554], [72866380, 72866535], [72873574, 72873702], [72881519, 72881632], [72890195, 72890350], [72891430, 72891553], [72893509, 72893574], [72897348, 72897491]]
Promoter
Chrom Start End Description
chr3 72897524 72897540 CAGE_peak_2_at_SHQ1_5end
chr3 72897545 72897629 CAGE_peak_1_at_SHQ1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I072886 72886451 72893369 2.42 [{'connected_gene': 'GXYLT2', 'score': 559.38}, {'connected_gene': 'SHQ1', 'score': 12.02}, {'connected_gene': 'RYBP', 'score': 1.94}, {'connected_gene': 'EBLN2', 'score': 1.48}, {'connected_gene': 'LAPTM4BP2', 'score': 0.44}, {'connected_gene': 'ENSG00000276890', 'score': 0.28}]
chr3 GH03I072937 72937897 72939654 1.17 [{'connected_gene': 'GXYLT2', 'score': 14.07}, {'connected_gene': 'SHQ1', 'score': 11.1}, {'connected_gene': 'GC03M072929', 'score': 0.44}, {'connected_gene': 'PPP4R2', 'score': 0.22}]
chr3 GH03I072850 72850298 72851890 0.49 [{'connected_gene': 'GXYLT2', 'score': 0.77}, {'connected_gene': 'SHQ1', 'score': 0.39}]
chr3 GH03I072945 72945400 72945801 0.76 [{'connected_gene': 'GXYLT2', 'score': 12.4}, {'connected_gene': 'PPP4R2', 'score': 11.44}, {'connected_gene': 'SHQ1', 'score': 11.18}, {'connected_gene': 'GC03M072929', 'score': 0.37}]
chr3 GH03I072847 72847283 72849694 2.21 [{'connected_gene': 'SHQ1', 'score': 555.38}, {'connected_gene': 'GXYLT2', 'score': 550.77}, {'connected_gene': 'ENSG00000241537', 'score': 0.18}]
chr3 GH03I072225 72225152 72225385 0.78 [{'connected_gene': 'SHQ1', 'score': 9.72}, {'connected_gene': 'ENSG00000242618', 'score': 0.37}, {'connected_gene': 'LINC00877', 'score': 0.23}]
chr3 GH03I072273 72273169 72275856 1.42 [{'connected_gene': 'SHQ1', 'score': 12.37}, {'connected_gene': 'RYBP', 'score': 10.82}, {'connected_gene': 'EBLN2', 'score': 10.2}, {'connected_gene': 'LINC00877', 'score': 0.77}, {'connected_gene': 'LOC105377158', 'score': 0.29}, {'connected_gene': 'ENSG00000242618', 'score': 0.21}]
chr3 GH03I073579 73579901 73581222 0.96 [{'connected_gene': 'SHQ1', 'score': 6.3}, {'connected_gene': 'GC03M073571', 'score': 0.44}, {'connected_gene': 'PIR59833', 'score': 0.29}, {'connected_gene': 'PDZRN3', 'score': 0.26}]
chr3 GH03I073095 73094841 73095349 0.2 [{'connected_gene': 'SHQ1', 'score': 10.78}, {'connected_gene': 'PPP4R2', 'score': 8.11}, {'connected_gene': 'RNU6-557P', 'score': 0.77}, {'connected_gene': 'RNU2-64P', 'score': 0.37}]
chr3 GH03I072895 72895001 72895400 0.46 [{'connected_gene': 'SHQ1', 'score': 12.01}, {'connected_gene': 'LAPTM4BP2', 'score': 0.39}, {'connected_gene': 'ENSG00000276890', 'score': 0.29}, {'connected_gene': 'GXYLT2', 'score': 0.25}]
chr3 GH03I073094 73094001 73094799 0.8 [{'connected_gene': 'SHQ1', 'score': 10.78}, {'connected_gene': 'RNU6-557P', 'score': 0.77}, {'connected_gene': 'RNU2-64P', 'score': 0.37}]
chr3 GH03I072743 72743676 72744928 0.93 [{'connected_gene': 'SHQ1', 'score': 5.35}, {'connected_gene': 'GC03P072740', 'score': 0.77}, {'connected_gene': 'PIR36711', 'score': 0.44}, {'connected_gene': 'GC03P072751', 'score': 0.44}, {'connected_gene': 'GC03P072750', 'score': 0.44}]
chr3 GH03I072756 72756069 72757868 0.95 [{'connected_gene': 'SHQ1', 'score': 5.99}, {'connected_gene': 'PIR36711', 'score': 0.44}, {'connected_gene': 'GC03P072751', 'score': 0.44}, {'connected_gene': 'GC03P072750', 'score': 0.44}, {'connected_gene': 'ENSG00000241537', 'score': 0.37}]
chr3 GH03I072769 72769472 72769891 0.43 [{'connected_gene': 'SHQ1', 'score': 5.41}, {'connected_gene': 'ENSG00000241537', 'score': 0.77}, {'connected_gene': 'PIR36711', 'score': 0.37}, {'connected_gene': 'GC03P072751', 'score': 0.37}, {'connected_gene': 'GC03P072750', 'score': 0.37}]
chr3 GH03I072745 72745030 72746350 0.91 [{'connected_gene': 'SHQ1', 'score': 5.37}, {'connected_gene': 'PIR36711', 'score': 0.77}, {'connected_gene': 'GC03P072751', 'score': 0.77}, {'connected_gene': 'GC03P072740', 'score': 0.77}, {'connected_gene': 'GC03P072750', 'score': 0.77}]
chr3 GH03I072753 72753151 72754449 0.31 [{'connected_gene': 'SHQ1', 'score': 5.6}, {'connected_gene': 'PIR36711', 'score': 0.77}, {'connected_gene': 'GC03P072751', 'score': 0.77}, {'connected_gene': 'GC03P072750', 'score': 0.77}, {'connected_gene': 'ENSG00000241537', 'score': 0.37}]
chr3 GH03I072766 72766489 72767441 0.31 [{'connected_gene': 'SHQ1', 'score': 5.16}, {'connected_gene': 'ENSG00000241537', 'score': 0.44}, {'connected_gene': 'PIR36711', 'score': 0.37}, {'connected_gene': 'GC03P072751', 'score': 0.37}, {'connected_gene': 'GC03P072750', 'score': 0.37}]
chr3 GH03I073061 73060550 73060719 0.31 [{'connected_gene': 'EBLN2', 'score': 550.77}, {'connected_gene': 'SHQ1', 'score': 11.28}, {'connected_gene': 'GC03P073027', 'score': 0.29}, {'connected_gene': 'PPP4R2', 'score': 0.21}]
chr3 GH03I073060 73060950 73061891 0.7 [{'connected_gene': 'EBLN2', 'score': 550.77}, {'connected_gene': 'SHQ1', 'score': 11.28}, {'connected_gene': 'GC03P073027', 'score': 0.29}, {'connected_gene': 'PPP4R2', 'score': 0.21}]
chr3 GH03I072875 72875983 72876166 0.49 [{'connected_gene': 'EBLN2', 'score': 1.4}, {'connected_gene': 'PSMD12P', 'score': 0.77}, {'connected_gene': 'SHQ1', 'score': 0.39}, {'connected_gene': 'GXYLT2', 'score': 0.31}]
chr3 GH03I072871 72871794 72872683 0.38 [{'connected_gene': 'PSMD12P', 'score': 0.44}, {'connected_gene': 'SHQ1', 'score': 0.39}, {'connected_gene': 'GXYLT2', 'score': 0.34}]
chr3 GH03I072278 72278248 72280362 0.7 [{'connected_gene': 'LINC00877', 'score': 550.77}, {'connected_gene': 'EBLN2', 'score': 12.18}, {'connected_gene': 'RYBP', 'score': 10.83}, {'connected_gene': 'SHQ1', 'score': 10.82}, {'connected_gene': 'LOC105377158', 'score': 0.31}, {'connected_gene': 'ENSG00000242618', 'score': 0.2}]
chr3 GH03I072797 72797321 72799149 0.89 [{'connected_gene': 'RYBP', 'score': 9.72}, {'connected_gene': 'ENSG00000241537', 'score': 0.31}, {'connected_gene': 'GXYLT2', 'score': 0.23}, {'connected_gene': 'SHQ1', 'score': 0.21}]
chr3 GH03I072817 72817090 72817239 0.68 [{'connected_gene': 'RYBP', 'score': 10.9}, {'connected_gene': 'GXYLT2', 'score': 0.29}, {'connected_gene': 'SHQ1', 'score': 0.26}, {'connected_gene': 'ENSG00000241537', 'score': 0.26}]
chr3 GH03I072809 72809713 72811120 0.31 [{'connected_gene': 'RYBP', 'score': 10.75}, {'connected_gene': 'GXYLT2', 'score': 0.28}, {'connected_gene': 'ENSG00000241537', 'score': 0.28}, {'connected_gene': 'SHQ1', 'score': 0.23}]
chr3 GH03I072811 72811690 72811839 0.31 [{'connected_gene': 'RYBP', 'score': 10.75}, {'connected_gene': 'GXYLT2', 'score': 0.28}, {'connected_gene': 'ENSG00000241537', 'score': 0.28}, {'connected_gene': 'SHQ1', 'score': 0.23}]
chr3 GH03I072813 72813463 72813849 0.38 [{'connected_gene': 'RYBP', 'score': 10.9}, {'connected_gene': 'SHQ1', 'score': 2.25}, {'connected_gene': 'GXYLT2', 'score': 0.29}, {'connected_gene': 'ENSG00000241537', 'score': 0.26}]
chr3 GH03I072818 72818028 72823209 1.39 [{'connected_gene': 'RYBP', 'score': 15.12}, {'connected_gene': 'SHQ1', 'score': 5.26}, {'connected_gene': 'PPP4R2', 'score': 1.55}, {'connected_gene': 'GXYLT2', 'score': 0.31}, {'connected_gene': 'ENSG00000241537', 'score': 0.25}]
chr3 GH03I072445 72445000 72449412 2.23 [{'connected_gene': 'RYBP', 'score': 579.84}, {'connected_gene': 'SHQ1', 'score': 12.75}, {'connected_gene': 'LOC105377160', 'score': 0.39}]
chr3 GH03I073055 73055801 73056639 0.76 [{'connected_gene': 'PPP4R2', 'score': 30.63}, {'connected_gene': 'SHQ1', 'score': 11.63}, {'connected_gene': 'RNU2-64P', 'score': 10.63}, {'connected_gene': 'EBLN2', 'score': 0.44}, {'connected_gene': 'GC03P073027', 'score': 0.31}]
chr3 GH03I073070 73070221 73072135 0.63 [{'connected_gene': 'PPP4R2', 'score': 27.08}, {'connected_gene': 'SHQ1', 'score': 11.13}, {'connected_gene': 'GC03P073067', 'score': 0.77}, {'connected_gene': 'GC03P073091', 'score': 0.34}]
chr3 GH03I073568 73568110 73569408 0.2 [{'connected_gene': 'RNU7-119P', 'score': 12.19}, {'connected_gene': 'SHQ1', 'score': 4.94}, {'connected_gene': 'PIR59833', 'score': 0.37}, {'connected_gene': 'GC03M073571', 'score': 0.37}, {'connected_gene': 'LOC101927296', 'score': 0.25}, {'connected_gene': 'PDZRN3', 'score': 0.22}]
chr3 GH03I073571 73571255 73573095 1.2 [{'connected_gene': 'RNU7-119P', 'score': 12.61}, {'connected_gene': 'PDZRN3-AS1', 'score': 10.75}, {'connected_gene': 'PDZRN3', 'score': 10.73}, {'connected_gene': 'SHQ1', 'score': 4.95}, {'connected_gene': 'GC03M073571', 'score': 0.39}, {'connected_gene': 'PIR59833', 'score': 0.34}]
chr3 GH03I072738 72738201 72740796 1.05 [{'connected_gene': 'GC03P072740', 'score': 550.77}, {'connected_gene': 'SHQ1', 'score': 16.23}, {'connected_gene': 'EBLN2', 'score': 10.23}, {'connected_gene': 'RYBP', 'score': 10.18}, {'connected_gene': 'RNA5SP136', 'score': 0.25}]
chr3 GH03I072767 72767764 72768459 0.38 [{'connected_gene': 'ENSG00000241537', 'score': 0.77}, {'connected_gene': 'PIR36711', 'score': 0.37}, {'connected_gene': 'GC03P072751', 'score': 0.37}, {'connected_gene': 'GC03P072750', 'score': 0.37}, {'connected_gene': 'SHQ1', 'score': 0.16}]