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
ENST00000447274 [[67056017, 67057021], [67057548, 67057684], [67057792, 67057917], [67058946, 67058992], [67059073, 67059217], [67059461, 67059651], [67066528, 67066595], [67067000, 67067082], [67067297, 67067359], [67067463, 67067594], [67068460, 67068618], [67068752, 67068869], [67068958, 67069122], [67069202, 67069294], [67069589, 67069952]] [[67057827, 67057917], [67058946, 67058992], [67059073, 67059217], [67059461, 67059651], [67066528, 67066595], [67067000, 67067082], [67067297, 67067359], [67067463, 67067594], [67068460, 67068618], [67068752, 67068869], [67068958, 67069122], [67069202, 67069294], [67069589, 67069803]]
ENST00000511455 [[67056761, 67057021], [67057548, 67057684], [67057792, 67057917], [67058946, 67058992], [67059073, 67059217], [67059461, 67059651], [67066528, 67066595], [67067000, 67067082], [67067297, 67067359], [67067463, 67067594], [67068460, 67068618], [67068752, 67068869], [67068958, 67069122], [67069202, 67069294], [67069589, 67069954]] [[67056931, 67057021], [67057548, 67057684], [67057792, 67057917], [67058946, 67058992], [67059073, 67059217], [67059461, 67059651], [67066528, 67066595], [67067000, 67067082], [67067297, 67067359], [67067463, 67067594], [67068460, 67068618], [67068752, 67068869], [67068958, 67069122], [67069202, 67069294], [67069589, 67069803]]
ENST00000512101 [[67056770, 67057021], [67057548, 67057684], [67057792, 67057917], [67058062, 67058992], [67059073, 67059122]] None
ENST00000513460 [[67056818, 67057021], [67057548, 67057684], [67057792, 67058011]] None
ENST00000308440 [[67056818, 67057021], [67057299, 67057436], [67057548, 67057684], [67057792, 67057917], [67058946, 67058992], [67059073, 67059217], [67059461, 67059651], [67066528, 67066595], [67067000, 67067082], [67067297, 67067359], [67067463, 67067594], [67068460, 67068618], [67068752, 67068869], [67068958, 67069122], [67069202, 67069294], [67069589, 67069954]] [[67057827, 67057917], [67058946, 67058992], [67059073, 67059217], [67059461, 67059651], [67066528, 67066595], [67067000, 67067082], [67067297, 67067359], [67067463, 67067594], [67068460, 67068618], [67068752, 67068869], [67068958, 67069122], [67069202, 67069294], [67069589, 67069803]]
ENST00000514166 [[67056872, 67057021], [67057548, 67057917], [67058946, 67058992], [67059073, 67059217], [67059461, 67059651], [67066528, 67066595], [67067000, 67067082], [67067297, 67067359], [67067463, 67067594], [67068460, 67068618], [67068752, 67068869], [67068958, 67069122], [67069202, 67069294], [67069589, 67069956]] [[67057827, 67057917], [67058946, 67058992], [67059073, 67059217], [67059461, 67059651], [67066528, 67066595], [67067000, 67067082], [67067297, 67067359], [67067463, 67067594], [67068460, 67068618], [67068752, 67068869], [67068958, 67069122], [67069202, 67069294], [67069589, 67069803]]
ENST00000514779 [[67057404, 67057684], [67057792, 67057917], [67058946, 67058992], [67059073, 67059217], [67059461, 67059508]] None
ENST00000506531 [[67057837, 67057917], [67058946, 67058992], [67059073, 67059217], [67059461, 67059651], [67066528, 67067082], [67067297, 67067359], [67067463, 67067505]] None
ENST00000504729 [[67057882, 67057917], [67058946, 67059217], [67059461, 67059645]] None
ENST00000504186 [[67059608, 67059651], [67066528, 67066595], [67067000, 67067082], [67067297, 67067359], [67067463, 67067773]] None
ENST00000508417 [[67065361, 67067092], [67069676, 67069954]] None
ENST00000512231 [[67065403, 67067082], [67067297, 67067359], [67067463, 67067594], [67068460, 67068618], [67068752, 67068869], [67068958, 67069122], [67069202, 67069294], [67069589, 67069954]] None
ENST00000513750 [[67066100, 67067092], [67067297, 67067359], [67067463, 67067594], [67068460, 67068618], [67068752, 67068869], [67068958, 67069122], [67069202, 67069294], [67069589, 67069954]] None
ENST00000508422 [[67066893, 67067092], [67069676, 67069954]] None
ENST00000507915 [[67067462, 67067594], [67068460, 67068618], [67068752, 67069294], [67069589, 67069922]] None
ENST00000506119 [[67067500, 67067970], [67068460, 67068599]] None
ENST00000515828 [[67068246, 67068618], [67068752, 67068869], [67068958, 67069122], [67069202, 67069294], [67069589, 67069955]] [[67068437, 67068618], [67068752, 67068869], [67068958, 67069122], [67069202, 67069294], [67069589, 67069803]]
ENST00000504236 [[67068943, 67069122], [67069259, 67069294], [67069589, 67069955]] None
NM_207354 [[67056761, 67057021], [67057548, 67057684], [67057792, 67057917], [67058946, 67058992], [67059073, 67059217], [67059461, 67059651], [67066528, 67066595], [67067000, 67067082], [67067297, 67067359], [67067463, 67067594], [67068460, 67068618], [67068752, 67068869], [67068958, 67069122], [67069202, 67069294], [67069589, 67069955]] [[67056931, 67057021], [67057548, 67057684], [67057792, 67057917], [67058946, 67058992], [67059073, 67059217], [67059461, 67059651], [67066528, 67066595], [67067000, 67067082], [67067297, 67067359], [67067463, 67067594], [67068460, 67068618], [67068752, 67068869], [67068958, 67069122], [67069202, 67069294], [67069589, 67069803]]
NM_001347901 [[67056761, 67057021], [67057299, 67057436], [67057548, 67057684], [67057792, 67057917], [67058946, 67058992], [67059073, 67059217], [67059461, 67059651], [67066528, 67066595], [67067000, 67067082], [67067297, 67067359], [67067463, 67067594], [67068460, 67068618], [67068752, 67068869], [67068958, 67069122], [67069202, 67069294], [67069589, 67069955]] [[67057827, 67057917], [67058946, 67058992], [67059073, 67059217], [67059461, 67059651], [67066528, 67066595], [67067000, 67067082], [67067297, 67067359], [67067463, 67067594], [67068460, 67068618], [67068752, 67068869], [67068958, 67069122], [67069202, 67069294], [67069589, 67069803]]
Promoter
Chrom Start End Description
chr11 67055986 67056054 CAGE_peak_2_at_ANKRD13D_5end
chr11 67056068 67056080 CAGE_peak_4_at_ANKRD13D_5end
chr11 67056485 67056508 CAGE_peak_5_at_ANKRD13D_5end
chr11 67056755 67056825 CAGE_peak_1_at_ANKRD13D_5end
chr11 67056867 67056926 CAGE_peak_3_at_ANKRD13D_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I066333 66333590 66339767 2.21 [{'connected_gene': 'RIN1', 'score': 601.48}, {'connected_gene': 'ACTN3', 'score': 23.52}, {'connected_gene': 'ENSG00000254458', 'score': 11.73}, {'connected_gene': 'B4GAT1', 'score': 10.39}, {'connected_gene': 'RAB1B', 'score': 10.32}, {'connected_gene': 'LOC105369351', 'score': 10.32}, {'connected_gene': 'LOC105369352', 'score': 10.31}, {'connected_gene': 'ENSG00000255320', 'score': 10.14}, {'connected_gene': 'PACS1', 'score': 10.04}, {'connected_gene': 'EIF1AD', 'score': 9.29}, {'connected_gene': 'BANF1', 'score': 9.29}, {'connected_gene': 'CST6', 'score': 9.29}, {'connected_gene': 'LOC102724064', 'score': 8.84}, {'connected_gene': 'ANKRD13D', 'score': 8.72}, {'connected_gene': 'RHOD', 'score': 5.03}, {'connected_gene': 'EHBP1L1', 'score': 4.45}, {'connected_gene': 'ENSG00000254756', 'score': 0.77}, {'connected_gene': 'BRMS1', 'score': 0.44}]
chr11 GH11I066676 66676410 66679232 2.06 [{'connected_gene': 'RBM4B', 'score': 550.77}, {'connected_gene': 'GC11P066677', 'score': 550.77}, {'connected_gene': 'RN7SL12P', 'score': 11.48}, {'connected_gene': 'SPTBN2', 'score': 11.44}, {'connected_gene': 'C11orf80', 'score': 11.41}, {'connected_gene': 'LRFN4', 'score': 11.17}, {'connected_gene': 'PC', 'score': 11.13}, {'connected_gene': 'ZDHHC24', 'score': 10.81}, {'connected_gene': 'ACTN3', 'score': 10.81}, {'connected_gene': 'RBM14-RBM4', 'score': 10.75}, {'connected_gene': 'RBM14', 'score': 10.72}, {'connected_gene': 'RNU4-39P', 'score': 10.72}, {'connected_gene': 'RNU7-23P', 'score': 10.2}, {'connected_gene': 'RHOD', 'score': 9.27}, {'connected_gene': 'ANKRD13D', 'score': 9.08}]
chr11 GH11I067344 67344270 67347301 1.28 [{'connected_gene': 'RAD9A', 'score': 23.88}, {'connected_gene': 'ENSG00000258297', 'score': 19.02}, {'connected_gene': 'KMT5B', 'score': 18.03}, {'connected_gene': 'RBM14', 'score': 16.55}, {'connected_gene': 'RBM4', 'score': 15.97}, {'connected_gene': 'KDM2A', 'score': 14.86}, {'connected_gene': 'CLCF1', 'score': 12.51}, {'connected_gene': 'ENSG00000256514', 'score': 12.51}, {'connected_gene': 'RCE1', 'score': 11.78}, {'connected_gene': 'SSH3', 'score': 11.69}, {'connected_gene': 'ANKRD13D', 'score': 11.65}, {'connected_gene': 'RPS6KB2', 'score': 11.36}, {'connected_gene': 'PPP1CA', 'score': 11.35}, {'connected_gene': 'RNU6-1238P', 'score': 11.3}, {'connected_gene': 'TBC1D10C', 'score': 11.27}, {'connected_gene': 'CARNS1', 'score': 11.25}, {'connected_gene': 'RHOD', 'score': 4.45}, {'connected_gene': 'GC11P067352', 'score': 0.44}, {'connected_gene': 'LOC100130987', 'score': 0.31}]
chr11 GH11I067347 67347906 67350214 1.35 [{'connected_gene': 'RAD9A', 'score': 24.3}, {'connected_gene': 'ENSG00000256514', 'score': 12.54}, {'connected_gene': 'CLCF1', 'score': 12.51}, {'connected_gene': 'RCE1', 'score': 12.41}, {'connected_gene': 'RNU6-1238P', 'score': 11.7}, {'connected_gene': 'TBC1D10C', 'score': 11.69}, {'connected_gene': 'SSH3', 'score': 11.67}, {'connected_gene': 'CARNS1', 'score': 11.66}, {'connected_gene': 'PPP1CA', 'score': 11.65}, {'connected_gene': 'ANKRD13D', 'score': 11.63}, {'connected_gene': 'GC11P067352', 'score': 0.77}, {'connected_gene': 'LOC100130987', 'score': 0.29}]
chr11 GH11I067350 67350810 67358653 2.59 [{'connected_gene': 'POLD4', 'score': 552.76}, {'connected_gene': 'ENSG00000274251', 'score': 550.77}, {'connected_gene': 'RBM14', 'score': 13.36}, {'connected_gene': 'SSH3', 'score': 13.35}, {'connected_gene': 'ANKRD13D', 'score': 12.58}, {'connected_gene': 'KDM2A', 'score': 11.7}, {'connected_gene': 'PTPRCAP', 'score': 11.68}, {'connected_gene': 'RHOD', 'score': 10.46}, {'connected_gene': 'RBM4', 'score': 10.24}, {'connected_gene': 'CARNS1', 'score': 7.36}, {'connected_gene': 'CLCF1', 'score': 2.0}, {'connected_gene': 'GC11P067352', 'score': 0.77}, {'connected_gene': 'ENSG00000256514', 'score': 0.37}, {'connected_gene': 'LOC100130987', 'score': 0.28}, {'connected_gene': 'RAD9A', 'score': 0.28}]
chr11 GH11I067414 67414870 67421807 2.16 [{'connected_gene': 'CARNS1', 'score': 557.84}, {'connected_gene': 'RAD9A', 'score': 18.61}, {'connected_gene': 'PTPRCAP', 'score': 11.88}, {'connected_gene': 'SSH3', 'score': 9.45}, {'connected_gene': 'ANKRD13D', 'score': 5.71}, {'connected_gene': 'C11orf80', 'score': 5.15}, {'connected_gene': 'PPP1CA', 'score': 0.77}]
chr11 GH11I067301 67301181 67304995 2.09 [{'connected_gene': 'SSH3', 'score': 566.66}, {'connected_gene': 'PTPRCAP', 'score': 11.92}, {'connected_gene': 'ANKRD13D', 'score': 10.87}, {'connected_gene': 'GC11M067291', 'score': 0.39}]
chr11 GH11I067251 67251936 67255454 0.82 [{'connected_gene': 'SSH3', 'score': 28.91}, {'connected_gene': 'ANKRD13D', 'score': 25.26}, {'connected_gene': 'POLD4', 'score': 11.78}, {'connected_gene': 'RN7SKP239', 'score': 11.78}, {'connected_gene': 'ENSG00000256514', 'score': 11.76}, {'connected_gene': 'CLCF1', 'score': 11.76}, {'connected_gene': 'PPP1CA', 'score': 10.82}, {'connected_gene': 'RPS6KB2', 'score': 10.66}, {'connected_gene': 'PTPRCAP', 'score': 10.66}, {'connected_gene': 'RPS6KB2-AS1', 'score': 10.66}, {'connected_gene': 'RHOD', 'score': 7.73}, {'connected_gene': 'PIR44214', 'score': 0.44}, {'connected_gene': 'PIR33652', 'score': 0.39}, {'connected_gene': 'KDM2A', 'score': 0.12}]
chr11 GH11I067612 67612563 67616707 1.28 [{'connected_gene': 'DOC2GP', 'score': 561.39}, {'connected_gene': 'NUDT8', 'score': 25.39}, {'connected_gene': 'ANKRD13D', 'score': 10.28}, {'connected_gene': 'RAD9A', 'score': 10.05}, {'connected_gene': 'CDK2AP2', 'score': 6.18}, {'connected_gene': 'PIR42297', 'score': 0.44}, {'connected_gene': 'GC11M067584', 'score': 0.39}]
chr11 GH11I067298 67298583 67299684 0.31 [{'connected_gene': 'ANKRD13D', 'score': 5.55}, {'connected_gene': 'SSH3', 'score': 0.77}, {'connected_gene': 'GC11M067291', 'score': 0.44}]
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 GH11I067627 67627004 67635571 2.28 [{'connected_gene': 'NUDT8', 'score': 576.7}, {'connected_gene': 'DOC2GP', 'score': 23.88}, {'connected_gene': 'ENSG00000255119', 'score': 23.38}, {'connected_gene': 'ANKRD13D', 'score': 10.26}, {'connected_gene': 'CDK2AP2', 'score': 6.14}, {'connected_gene': 'NDUFV1', 'score': 4.74}, {'connected_gene': 'TBX10', 'score': 0.44}]
chr11 GH11I067364 67364699 67377015 2.71 [{'connected_gene': 'CLCF1', 'score': 553.51}, {'connected_gene': 'SSH3', 'score': 16.09}, {'connected_gene': 'ANKRD13D', 'score': 12.56}, {'connected_gene': 'PTPRCAP', 'score': 11.71}, {'connected_gene': 'RHOD', 'score': 6.49}, {'connected_gene': 'RAD9A', 'score': 5.89}, {'connected_gene': 'NDUFS8', 'score': 4.4}, {'connected_gene': 'CDK2AP2', 'score': 3.69}, {'connected_gene': 'PPP1CA', 'score': 1.79}, {'connected_gene': 'ENSG00000275484', 'score': 0.77}, {'connected_gene': 'ENSG00000256514', 'score': 0.77}, {'connected_gene': 'RN7SKP239', 'score': 0.44}, {'connected_gene': 'LOC100130987', 'score': 0.23}]
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 GH11I068114 68114894 68124122 2.25 [{'connected_gene': 'CHKA', 'score': 550.77}, {'connected_gene': 'ENSG00000255031', 'score': 15.57}, {'connected_gene': 'LOC105369362', 'score': 13.3}, {'connected_gene': 'ANKRD13D', 'score': 5.79}, {'connected_gene': 'NDUFS8', 'score': 4.87}, {'connected_gene': 'TCIRG1', 'score': 4.83}, {'connected_gene': 'ACY3', 'score': 4.5}, {'connected_gene': 'GC11M068058', 'score': 0.22}]
chr11 GH11I067338 67338523 67338825 0.24 [{'connected_gene': 'RN7SKP239', 'score': 12.92}, {'connected_gene': 'ENSG00000256514', 'score': 12.88}, {'connected_gene': 'CLCF1', 'score': 12.86}, {'connected_gene': 'SSH3', 'score': 12.27}, {'connected_gene': 'ANKRD13D', 'score': 12.22}, {'connected_gene': 'PPP1CA', 'score': 11.37}, {'connected_gene': 'PTPRCAP', 'score': 11.11}, {'connected_gene': 'RPS6KB2', 'score': 10.76}, {'connected_gene': 'RPS6KB2-AS1', 'score': 10.75}, {'connected_gene': 'RHOD', 'score': 9.75}, {'connected_gene': 'KDM2A', 'score': 9.69}, {'connected_gene': 'GC11P067352', 'score': 0.39}, {'connected_gene': 'LOC100130987', 'score': 0.34}, {'connected_gene': 'RAD9A', 'score': 0.34}]
chr11 GH11I067292 67292289 67293919 0.76 [{'connected_gene': 'GC11M067291', 'score': 550.77}, {'connected_gene': 'KMT5B', 'score': 19.23}, {'connected_gene': 'RBM14', 'score': 16.74}, {'connected_gene': 'ENSG00000258297', 'score': 16.59}, {'connected_gene': 'RBM4', 'score': 12.79}, {'connected_gene': 'FAM86C2P', 'score': 12.41}, {'connected_gene': 'RCE1', 'score': 12.12}, {'connected_gene': 'CCS', 'score': 11.5}, {'connected_gene': 'SSH3', 'score': 11.42}, {'connected_gene': 'RAD9A', 'score': 10.76}, {'connected_gene': 'RHOD', 'score': 10.34}, {'connected_gene': 'ANKRD13D', 'score': 0.77}]
chr11 GH11I068051 68051094 68052043 0.51 [{'connected_gene': 'ENSG00000255031', 'score': 550.77}, {'connected_gene': 'ANKRD13D', 'score': 5.13}, {'connected_gene': 'GC11M068058', 'score': 0.44}]
chr11 GH11I068093 68093492 68095076 0.2 [{'connected_gene': 'ENSG00000255031', 'score': 15.38}, {'connected_gene': 'LOC105369362', 'score': 12.21}, {'connected_gene': 'ANKRD13D', 'score': 5.18}, {'connected_gene': 'CHKA', 'score': 0.31}, {'connected_gene': 'GC11M068058', 'score': 0.29}]

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