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
ENST00000308595 [[67033880, 67034283], [67044742, 67044819], [67046670, 67046744], [67046888, 67046990], [67047096, 67047171], [67047309, 67047371], [67048202, 67048254], [67048563, 67048655], [67048929, 67049029], [67049120, 67049199], [67049292, 67049423], [67049741, 67049836], [67049905, 67050013], [67050222, 67050289], [67050598, 67050699], [67051177, 67051244], [67051324, 67051420], [67051681, 67051844], [67052317, 67052454], [67052545, 67052659], [67052756, 67054027]] [[67034170, 67034283], [67044742, 67044819], [67046670, 67046744], [67046888, 67046990], [67047096, 67047171], [67047309, 67047371], [67048202, 67048254], [67048563, 67048655], [67048929, 67049029], [67049120, 67049199], [67049292, 67049423], [67049741, 67049836], [67049905, 67050013], [67050222, 67050289], [67050598, 67050699], [67051177, 67051244], [67051324, 67051420], [67051681, 67051844], [67052317, 67052454], [67052545, 67052659], [67052756, 67052921]]
ENST00000526285 [[67033951, 67034283], [67044742, 67044819], [67046670, 67046744], [67046888, 67046990], [67047096, 67047171], [67047309, 67047371], [67048202, 67048254], [67048563, 67048655], [67048929, 67049029], [67049120, 67049199], [67049292, 67049423], [67049741, 67049836], [67049905, 67049948], [67053863, 67054007]] [[67034170, 67034283], [67044742, 67044819], [67046670, 67046744], [67046888, 67046990], [67047096, 67047171], [67047309, 67047371], [67048202, 67048254], [67048563, 67048655], [67048929, 67049029], [67049120, 67049199], [67049292, 67049423], [67049741, 67049836], [67049905, 67049948], [67053863, 67053995]]
ENST00000530291 [[67038408, 67038479], [67044742, 67044819], [67046670, 67046744], [67046888, 67046990]] None
ENST00000416281 [[67044007, 67044819], [67046670, 67046744], [67046888, 67046990], [67047096, 67047171], [67047309, 67047371], [67048202, 67048655], [67048929, 67049029], [67049120, 67049199], [67049292, 67050013], [67050222, 67050289], [67050598, 67050699], [67051177, 67051244], [67051324, 67051420], [67051681, 67051844], [67052317, 67052454], [67052545, 67052659], [67052756, 67054026]] None
ENST00000529738 [[67046944, 67046990], [67047096, 67047171], [67047309, 67047371], [67053526, 67053843]] None
ENST00000533077 [[67047664, 67048655], [67048929, 67049029], [67049120, 67049199], [67049292, 67050013], [67050222, 67050289], [67050598, 67052093]] None
ENST00000534651 [[67048929, 67049029], [67049120, 67049199], [67049292, 67049537]] None
ENST00000532099 [[67048979, 67049029], [67049120, 67049199], [67049292, 67049423], [67049741, 67049836], [67049905, 67050013], [67050222, 67050289], [67050598, 67050699], [67051324, 67051420], [67051681, 67051840]] None
ENST00000526572 [[67049154, 67049199], [67049292, 67049423], [67049741, 67050013], [67050222, 67050289], [67050598, 67050699], [67051177, 67051244], [67051324, 67051430]] None
ENST00000527176 [[67049346, 67049423], [67049905, 67050013], [67050222, 67050289], [67050598, 67050699], [67051177, 67051244], [67051324, 67051420], [67051681, 67051844], [67052317, 67052608]] None
ENST00000529815 [[67049595, 67050013], [67050222, 67050289], [67050598, 67050702]] None
ENST00000531390 [[67050251, 67050289], [67050598, 67050699], [67051177, 67051244], [67051324, 67051642]] None
ENST00000532611 [[67050645, 67050699], [67051177, 67051420], [67051681, 67051794]] None
ENST00000524899 [[67051741, 67051844], [67052317, 67052659], [67052756, 67053062]] None
NM_001619 [[67033904, 67034283], [67044742, 67044819], [67046670, 67046744], [67046888, 67046990], [67047096, 67047171], [67047309, 67047371], [67048202, 67048254], [67048563, 67048655], [67048929, 67049029], [67049120, 67049199], [67049292, 67049423], [67049741, 67049836], [67049905, 67050013], [67050222, 67050289], [67050598, 67050699], [67051177, 67051244], [67051324, 67051420], [67051681, 67051844], [67052317, 67052454], [67052545, 67052659], [67052756, 67054029]] [[67034170, 67034283], [67044742, 67044819], [67046670, 67046744], [67046888, 67046990], [67047096, 67047171], [67047309, 67047371], [67048202, 67048254], [67048563, 67048655], [67048929, 67049029], [67049120, 67049199], [67049292, 67049423], [67049741, 67049836], [67049905, 67050013], [67050222, 67050289], [67050598, 67050699], [67051177, 67051244], [67051324, 67051420], [67051681, 67051844], [67052317, 67052454], [67052545, 67052659], [67052756, 67052921]]
Promoter
Chrom Start End Description
chr11 67033909 67033950 CAGE_peak_1_at_ADRBK1_5end
chr11 67034140 67034180 CAGE_peak_2_at_ADRBK1_5end
chr11 67049422 67049427 CAGE_peak_4_at_ADRBK1_5end
chr11 67050220 67050224 CAGE_peak_5_at_ADRBK1_5end
chr11 67051186 67051245 CAGE_peak_3_at_ADRBK1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I066949 66949546 66953828 1.69 [{'connected_gene': 'ACTN3', 'score': 16.85}, {'connected_gene': 'ENSG00000258297', 'score': 13.0}, {'connected_gene': 'SYT12', 'score': 11.65}, {'connected_gene': 'RBM14', 'score': 10.34}, {'connected_gene': 'ENSG00000254461', 'score': 10.09}, {'connected_gene': 'RHOD', 'score': 7.03}, {'connected_gene': 'RPS6KB2', 'score': 6.19}, {'connected_gene': 'LOC101928069', 'score': 5.58}, {'connected_gene': 'CLCF1', 'score': 4.8}, {'connected_gene': 'GRK2', 'score': 2.91}, {'connected_gene': 'LOC105369355', 'score': 0.77}, {'connected_gene': 'PC', 'score': 0.44}, {'connected_gene': 'MIR3163', 'score': 0.37}]
chr11 GH11I067077 67077083 67079599 1.54 [{'connected_gene': 'RHOD', 'score': 18.58}, {'connected_gene': 'KDM2A', 'score': 14.67}, {'connected_gene': 'ANKRD13D', 'score': 12.52}, {'connected_gene': 'CDK2AP2', 'score': 4.25}, {'connected_gene': 'GRK2', 'score': 3.7}, {'connected_gene': 'RBM4', 'score': 1.79}, {'connected_gene': 'CLCF1', 'score': 1.76}, {'connected_gene': 'SSH3', 'score': 1.63}, {'connected_gene': 'TMEM134', 'score': 1.43}, {'connected_gene': 'PITPNM1', 'score': 1.1}, {'connected_gene': 'GC11P067094', 'score': 0.37}]
chr11 GH11I067233 67233947 67234921 0.43 [{'connected_gene': 'RHOD', 'score': 17.69}, {'connected_gene': 'GRK2', 'score': 12.14}, {'connected_gene': 'ANKRD13D', 'score': 11.69}, {'connected_gene': 'SSH3', 'score': 11.66}, {'connected_gene': 'PIR48284', 'score': 0.77}, {'connected_gene': 'PIR44214', 'score': 0.39}, {'connected_gene': 'KDM2A', 'score': 0.13}]
chr11 GH11I066965 66965661 66972443 1.69 [{'connected_gene': 'CLCF1', 'score': 17.27}, {'connected_gene': 'RAD9A', 'score': 14.17}, {'connected_gene': 'PC', 'score': 13.58}, {'connected_gene': 'RNU7-23P', 'score': 10.92}, {'connected_gene': 'CTSF', 'score': 6.72}, {'connected_gene': 'SPTBN2', 'score': 5.82}, {'connected_gene': 'GRK2', 'score': 2.58}, {'connected_gene': 'KDM2A', 'score': 1.66}, {'connected_gene': 'POLD4', 'score': 1.33}, {'connected_gene': 'C11orf86', 'score': 0.44}, {'connected_gene': 'LOC105369355', 'score': 0.39}]
chr11 GH11I067265 67265720 67291208 2.6 [{'connected_gene': 'GRK2', 'score': 563.68}, {'connected_gene': 'ANKRD13D', 'score': 562.59}, {'connected_gene': 'SSH3', 'score': 14.94}, {'connected_gene': 'KDM2A', 'score': 13.24}, {'connected_gene': 'PTPRCAP', 'score': 11.31}, {'connected_gene': 'RHOD', 'score': 8.24}, {'connected_gene': 'CARNS1', 'score': 7.45}, {'connected_gene': 'C11orf80', 'score': 7.27}, {'connected_gene': 'PC', 'score': 6.98}, {'connected_gene': 'RAD9A', 'score': 5.91}, {'connected_gene': 'PITPNM1', 'score': 5.14}, {'connected_gene': 'LOC102724064', 'score': 4.58}, {'connected_gene': 'CTSF', 'score': 4.02}, {'connected_gene': 'TBC1D10C', 'score': 3.53}]
chr11 GH11I067264 67264994 67265080 0.43 [{'connected_gene': 'GRK2', 'score': 550.77}, {'connected_gene': 'PIR33652', 'score': 550.77}]
chr11 GH11I067316 67316428 67318713 1.56 [{'connected_gene': 'LOC100130987', 'score': 550.77}, {'connected_gene': 'RAD9A', 'score': 550.77}, {'connected_gene': 'SSH3', 'score': 21.83}, {'connected_gene': 'ENSG00000258297', 'score': 17.15}, {'connected_gene': 'RBM4', 'score': 14.28}, {'connected_gene': 'KMT5B', 'score': 13.82}, {'connected_gene': 'RBM14', 'score': 13.16}, {'connected_gene': 'GRK2', 'score': 12.77}, {'connected_gene': 'UNC93B1', 'score': 12.57}, {'connected_gene': 'POLD4', 'score': 12.37}, {'connected_gene': 'RN7SKP239', 'score': 12.36}, {'connected_gene': 'CLCF1', 'score': 12.32}, {'connected_gene': 'ENSG00000256514', 'score': 12.32}, {'connected_gene': 'CORO1B', 'score': 12.03}, {'connected_gene': 'RNU6-1238P', 'score': 11.74}, {'connected_gene': 'TBC1D10C', 'score': 11.72}, {'connected_gene': 'CARNS1', 'score': 11.71}, {'connected_gene': 'PPP1CA', 'score': 11.7}, {'connected_gene': 'KDM2A', 'score': 11.22}, {'connected_gene': 'MRPL11', 'score': 10.47}, {'connected_gene': 'RHOD', 'score': 6.58}]