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
ENST00000368314 [[127587754, 127588070], [127601375, 127601485], [127607760, 127609703]] [[127601483, 127601485], [127607760, 127608838]]
ENST00000476956 [[127587870, 127588240], [127601375, 127601485], [127607194, 127607322], [127607760, 127608036]] [[127601483, 127601485], [127607194, 127607315]]
ENST00000609447 [[127587984, 127588070], [127601375, 127601485], [127603431, 127603540], [127607194, 127607496]] [[127603532, 127603540], [127607194, 127607315]]
ENST00000356799 [[127587993, 127588070], [127601375, 127601485], [127607194, 127607322], [127607760, 127609712]] [[127601483, 127601485], [127607194, 127607315]]
ENST00000495188 [[127587995, 127588070], [127601375, 127601893]] None
ENST00000477776 [[127588008, 127588189], [127601375, 127601485], [127603431, 127603540], [127607194, 127607322], [127607760, 127607994]] [[127603532, 127603540], [127607194, 127607315]]
ENST00000609944 [[127588016, 127588189], [127601375, 127601485], [127601660, 127601749], [127603431, 127603540], [127607194, 127607229]] [[127603532, 127603540], [127607194, 127607229]]
ENST00000309649 [[127588019, 127588070], [127601375, 127601485], [127603431, 127603540], [127607194, 127607322], [127607760, 127609502]] [[127607761, 127608838]]
ENST00000608340 [[127588027, 127588240], [127601375, 127601485], [127606352, 127606493], [127607194, 127607242]] None
ENST00000610162 [[127588027, 127588240], [127601375, 127601485], [127601660, 127601749], [127607194, 127607322], [127607760, 127607788]] [[127607761, 127607788]]
ENST00000489534 [[127588027, 127588189], [127601375, 127601485], [127607760, 127608098]] None
ENST00000608991 [[127588027, 127588070], [127601375, 127601485], [127606352, 127606493], [127607194, 127607322], [127607760, 127609507]] [[127607761, 127608838]]
ENST00000610153 [[127588027, 127588240], [127601375, 127601485], [127607760, 127609507]] [[127601483, 127601485], [127607760, 127608838]]
ENST00000480444 [[127588032, 127588240], [127601375, 127601485], [127603431, 127603540], [127607194, 127607322], [127607760, 127608048]] [[127603532, 127603540], [127607194, 127607315]]
NM_001242851 [[127587826, 127587854], [127601375, 127601485], [127607760, 127609707]] [[127601483, 127601485], [127607760, 127608838]]
NM_001242849 [[127587882, 127588240], [127601375, 127601485], [127607760, 127609707]] [[127601483, 127601485], [127607760, 127608838]]
NM_001242847 [[127587882, 127588240], [127601375, 127601485], [127607194, 127607322], [127607760, 127609707]] [[127607761, 127608838]]
NM_001242844 [[127587882, 127588240], [127601375, 127601485], [127603431, 127603540], [127607194, 127607322], [127607760, 127609707]] [[127607761, 127608838]]
NM_001242852 [[127587882, 127588240], [127601375, 127601485], [127601660, 127601749], [127607194, 127607322], [127607760, 127609707]] [[127607761, 127608838]]
NM_001242850 [[127587982, 127588070], [127601375, 127601485], [127607760, 127609707]] [[127601483, 127601485], [127607760, 127608838]]
NM_001242848 [[127587982, 127588070], [127601375, 127601485], [127607194, 127607322], [127607760, 127609707]] [[127607761, 127608838]]
NM_001242846 [[127587982, 127588070], [127601375, 127601485], [127606352, 127606493], [127607194, 127607322], [127607760, 127609707]] [[127607761, 127608838]]
NM_030963 [[127587982, 127588070], [127601375, 127601485], [127603431, 127603540], [127607194, 127607322], [127607760, 127609707]] [[127607761, 127608838]]
NM_001242845 [[127587982, 127588189], [127601375, 127601485], [127603431, 127603540], [127607194, 127607322], [127607760, 127609707]] [[127607761, 127608838]]
Promoter
Chrom Start End Description
chr6 127587977 127588016 CAGE_peak_1_at_RNF146_5end
chr6 127588020 127588038 CAGE_peak_2_at_RNF146_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I127160 127160543 127160928 0.46 [{'connected_gene': 'RSPO3', 'score': 13.87}, {'connected_gene': 'RNF146', 'score': 1.57}, {'connected_gene': 'LOC105377989', 'score': 0.26}]
chr6 GH06I127146 127146996 127147245 0.57 [{'connected_gene': 'RSPO3', 'score': 10.96}, {'connected_gene': 'LOC105377989', 'score': 0.31}, {'connected_gene': 'RNF146', 'score': 0.13}]
chr6 GH06I127172 127172921 127174177 0.31 [{'connected_gene': 'RSPO3', 'score': 0.23}, {'connected_gene': 'LOC105377989', 'score': 0.23}, {'connected_gene': 'RNF146', 'score': 0.16}]
chr6 GH06I127176 127176499 127177569 0.52 [{'connected_gene': 'RSPO3', 'score': 0.22}, {'connected_gene': 'LOC105377989', 'score': 0.22}, {'connected_gene': 'RNF146', 'score': 0.17}]
chr6 GH06I127191 127191936 127194209 0.76 [{'connected_gene': 'RSPO3', 'score': 0.19}, {'connected_gene': 'LOC105377989', 'score': 0.19}, {'connected_gene': 'RNF146', 'score': 0.19}]
chr6 GH06I127102 127102000 127102800 1.17 [{'connected_gene': 'RNF146', 'score': 2.49}, {'connected_gene': 'RSPO3', 'score': 0.37}, {'connected_gene': 'LOC105377989', 'score': 0.37}, {'connected_gene': 'LOC105377991', 'score': 0.07}]
chr6 GH06I127114 127114352 127114702 0.33 [{'connected_gene': 'RNF146', 'score': 1.94}, {'connected_gene': 'RSPO3', 'score': 0.77}, {'connected_gene': 'LOC105377989', 'score': 0.44}, {'connected_gene': 'LOC105377991', 'score': 0.07}]
chr6 GH06I127115 127115156 127115405 0.43 [{'connected_gene': 'RNF146', 'score': 2.25}, {'connected_gene': 'RSPO3', 'score': 0.77}, {'connected_gene': 'LOC105377989', 'score': 0.77}, {'connected_gene': 'LOC105377991', 'score': 0.07}]
chr6 GH06I127265 127265976 127269556 2.26 [{'connected_gene': 'RNF146', 'score': 550.77}, {'connected_gene': 'ECHDC1', 'score': 14.87}, {'connected_gene': 'CENPW', 'score': 14.28}, {'connected_gene': 'LOC105377994', 'score': 0.31}]
chr6 GH06I127281 127281411 127281470 0.5 [{'connected_gene': 'RNF146', 'score': 550.37}, {'connected_gene': 'LOC105377994', 'score': 0.37}]
chr6 GH06I127201 127201476 127201625 0.2 [{'connected_gene': 'RNF146', 'score': 0.21}, {'connected_gene': 'LOC105377989', 'score': 0.18}]
chr6 GH06I127247 127247746 127248060 0.22 [{'connected_gene': 'RNF146', 'score': 0.37}, {'connected_gene': 'LOC105377989', 'score': 0.13}]
chr6 GH06I127204 127204601 127205000 0.2 [{'connected_gene': 'RNF146', 'score': 0.21}, {'connected_gene': 'LOC105377989', 'score': 0.18}]
chr6 GH06I127271 127271069 127273472 0.31 [{'connected_gene': 'ECHDC1', 'score': 15.59}, {'connected_gene': 'KIAA0408', 'score': 10.12}, {'connected_gene': 'RNF146', 'score': 0.44}, {'connected_gene': 'LOC105377994', 'score': 0.34}]
chr6 GH06I127419 127419958 127421504 1.32 [{'connected_gene': 'ECHDC1', 'score': 24.57}, {'connected_gene': 'KIAA0408', 'score': 11.75}, {'connected_gene': 'RNF146', 'score': 2.42}, {'connected_gene': 'LOC100287856', 'score': 0.77}, {'connected_gene': 'RPL17P23', 'score': 0.39}]
chr6 GH06I127397 127397576 127398482 0.84 [{'connected_gene': 'ECHDC1', 'score': 14.1}, {'connected_gene': 'KIAA0408', 'score': 10.55}, {'connected_gene': 'RNF146', 'score': 1.99}, {'connected_gene': 'LOC100287856', 'score': 0.37}, {'connected_gene': 'GC06P127375', 'score': 0.34}]
chr6 GH06I127275 127275509 127279168 0.7 [{'connected_gene': 'ECHDC1', 'score': 15.88}, {'connected_gene': 'RNF146', 'score': 0.39}, {'connected_gene': 'LOC105377994', 'score': 0.37}]
chr6 GH06I127424 127424101 127424380 0.22 [{'connected_gene': 'ECHDC1', 'score': 13.73}, {'connected_gene': 'RNF146', 'score': 2.78}, {'connected_gene': 'LOC100287856', 'score': 0.44}, {'connected_gene': 'RPL17P23', 'score': 0.39}]
chr6 GH06I127288 127288298 127289441 0.38 [{'connected_gene': 'ECHDC1', 'score': 15.73}, {'connected_gene': 'LOC105377994', 'score': 0.44}, {'connected_gene': 'RNF146', 'score': 0.34}]
chr6 GH06I127121 127121001 127121824 0.95 [{'connected_gene': 'LOC105377989', 'score': 550.77}, {'connected_gene': 'RSPO3', 'score': 3.61}, {'connected_gene': 'RNF146', 'score': 0.11}]