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
ENST00000262306 [[2821414, 2821605], [2821994, 2822103], [2825451, 2825557], [2826993, 2827128], [2827237, 2827278]] [[2821472, 2821605], [2821994, 2822103], [2825451, 2825557], [2826993, 2827128], [2827237, 2827240]]
ENST00000409906 [[2821414, 2822103], [2825451, 2825557], [2826993, 2827128], [2827237, 2827298]] [[2821990, 2822103], [2825451, 2825557], [2826993, 2827128], [2827237, 2827240]]
ENST00000409477 [[2821415, 2822103], [2825451, 2825557], [2826993, 2827196]] [[2821990, 2822103], [2825451, 2825557], [2826993, 2827116]]
ENST00000494946 [[2821941, 2822103], [2825451, 2825626], [2826993, 2827128]] [[2821990, 2822103], [2825451, 2825626], [2826993, 2827128]]
ENST00000572954 [[2821943, 2822103], [2826993, 2827128], [2827237, 2827273]] [[2822040, 2822103], [2826993, 2827128], [2827237, 2827240]]
NM_007108 [[2821414, 2822103], [2825451, 2825557], [2826993, 2827128], [2827237, 2827297]] [[2821990, 2822103], [2825451, 2825557], [2826993, 2827128], [2827237, 2827240]]
NM_207013 [[2821414, 2821605], [2821994, 2822103], [2825451, 2825557], [2826993, 2827128], [2827237, 2827297]] [[2821472, 2821605], [2821994, 2822103], [2825451, 2825557], [2826993, 2827128], [2827237, 2827240]]
Promoter
Chrom Start End Description
chr16 2827261 2827299 CAGE_peak_1_at_TCEB2_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr16 GH16I002427 2427867 2430629 2.28 [{'connected_gene': 'CCNF', 'score': 557.47}, {'connected_gene': 'TBL3', 'score': 17.35}, {'connected_gene': 'AMDHD2', 'score': 12.74}, {'connected_gene': 'ZNF200', 'score': 12.7}, {'connected_gene': 'CRAMP1', 'score': 12.16}, {'connected_gene': 'ENSG00000261207', 'score': 11.42}, {'connected_gene': 'ENSG00000260051', 'score': 9.71}, {'connected_gene': 'ZNF598', 'score': 9.7}, {'connected_gene': 'LOC652276', 'score': 5.36}, {'connected_gene': 'KCTD5', 'score': 4.23}, {'connected_gene': 'DNASE1L2', 'score': 3.81}, {'connected_gene': 'ELOB', 'score': 3.1}, {'connected_gene': 'MLST8', 'score': 2.73}, {'connected_gene': 'RPS2', 'score': 2.54}, {'connected_gene': 'FLYWCH2', 'score': 2.2}, {'connected_gene': 'GFER', 'score': 2.0}, {'connected_gene': 'TRAF7', 'score': 1.7}, {'connected_gene': 'TSC2', 'score': 1.61}, {'connected_gene': 'RNF151', 'score': 1.3}, {'connected_gene': 'NTHL1', 'score': 1.2}, {'connected_gene': 'ECI1', 'score': 1.19}, {'connected_gene': 'GC16P002427', 'score': 0.77}]
chr16 GH16I002756 2756480 2756568 0.52 [{'connected_gene': 'ELOB', 'score': 12.51}, {'connected_gene': 'PRSS33', 'score': 12.46}, {'connected_gene': 'PRSS41', 'score': 12.43}, {'connected_gene': 'SNORA3C', 'score': 12.43}, {'connected_gene': 'ZNF200', 'score': 12.41}, {'connected_gene': 'PRSS27', 'score': 11.97}, {'connected_gene': 'RNF151', 'score': 11.32}, {'connected_gene': 'PRSS22', 'score': 11.05}, {'connected_gene': 'ENSG00000260447', 'score': 10.54}, {'connected_gene': 'ENSG00000263235', 'score': 10.48}, {'connected_gene': 'PKMYT1', 'score': 10.27}, {'connected_gene': 'ZNF75A', 'score': 9.93}, {'connected_gene': 'TBL3', 'score': 9.72}, {'connected_gene': 'GC16P003013', 'score': 0.77}, {'connected_gene': 'SRRM2', 'score': 0.77}, {'connected_gene': 'GC16M002769', 'score': 0.39}]
chr16 GH16I002757 2756120 2756269 0.38 [{'connected_gene': 'ELOB', 'score': 12.51}, {'connected_gene': 'PRSS33', 'score': 12.46}, {'connected_gene': 'SNORA3C', 'score': 12.43}, {'connected_gene': 'PRSS41', 'score': 12.43}, {'connected_gene': 'PRSS27', 'score': 11.97}, {'connected_gene': 'PRSS22', 'score': 11.05}, {'connected_gene': 'PKMYT1', 'score': 10.27}, {'connected_gene': 'SRRM2', 'score': 0.77}, {'connected_gene': 'GC16P003013', 'score': 0.77}, {'connected_gene': 'GC16M002769', 'score': 0.39}]
chr16 GH16I002750 2750735 2755409 2.3 [{'connected_gene': 'SRRM2', 'score': 582.88}, {'connected_gene': 'SRRM2-AS1', 'score': 550.77}, {'connected_gene': 'GC16P003013', 'score': 550.77}, {'connected_gene': 'ZNF75A', 'score': 37.22}, {'connected_gene': 'ERVK13-1', 'score': 31.45}, {'connected_gene': 'TSC2', 'score': 30.54}, {'connected_gene': 'ZNF263', 'score': 29.92}, {'connected_gene': 'ENSG00000255513', 'score': 28.53}, {'connected_gene': 'LOC105371055', 'score': 25.9}, {'connected_gene': 'SNORA64', 'score': 25.67}, {'connected_gene': 'ENSG00000261938', 'score': 25.26}, {'connected_gene': 'ZNF213-AS1', 'score': 25.12}, {'connected_gene': 'NUBP2', 'score': 23.27}, {'connected_gene': 'E4F1', 'score': 22.03}, {'connected_gene': 'SNORD60', 'score': 21.62}, {'connected_gene': 'ZNF598', 'score': 19.69}, {'connected_gene': 'TIGD7', 'score': 19.48}, {'connected_gene': 'ZNF205', 'score': 18.34}, {'connected_gene': 'THOC6', 'score': 13.83}, {'connected_gene': 'SPSB3', 'score': 13.79}, {'connected_gene': 'TRAF7', 'score': 12.57}, {'connected_gene': 'MTCO1P28', 'score': 12.52}, {'connected_gene': 'ELOB', 'score': 12.51}, {'connected_gene': 'PRSS33', 'score': 12.46}, {'connected_gene': 'SNORA3C', 'score': 12.43}, {'connected_gene': 'PRSS41', 'score': 12.41}, {'connected_gene': 'LOC106660606', 'score': 12.19}, {'connected_gene': 'PRSS27', 'score': 11.99}, {'connected_gene': 'NME3', 'score': 11.25}, {'connected_gene': 'CLUAP1', 'score': 11.15}, {'connected_gene': 'PRSS22', 'score': 11.04}, {'connected_gene': 'ENSG00000261123', 'score': 10.93}, {'connected_gene': 'LOC105371049', 'score': 10.5}, {'connected_gene': 'PKMYT1', 'score': 10.27}, {'connected_gene': 'SNHG19', 'score': 10.27}, {'connected_gene': 'PDPK2P', 'score': 9.97}, {'connected_gene': 'EME2', 'score': 9.94}, {'connected_gene': 'ENSG00000260447', 'score': 9.68}, {'connected_gene': 'ABCA17P', 'score': 5.02}, {'connected_gene': 'FAHD1', 'score': 4.86}]
chr16 GH16I002867 2867463 2869489 1.8 [{'connected_gene': 'LOC101929566', 'score': 572.72}, {'connected_gene': 'GC16P003028', 'score': 550.77}, {'connected_gene': 'FLYWCH2', 'score': 13.84}, {'connected_gene': 'ZG16B', 'score': 12.45}, {'connected_gene': 'FLYWCH1', 'score': 11.62}, {'connected_gene': 'SNORA3C', 'score': 11.4}, {'connected_gene': 'PRSS41', 'score': 11.4}, {'connected_gene': 'PRSS33', 'score': 11.38}, {'connected_gene': 'ELOB', 'score': 11.36}, {'connected_gene': 'SRRM2-AS1', 'score': 10.19}]
chr16 GH16I002774 2774992 2779569 2.23 [{'connected_gene': 'PIR54527', 'score': 550.77}, {'connected_gene': 'GC16P002987', 'score': 550.77}, {'connected_gene': 'ENSG00000276791', 'score': 550.77}, {'connected_gene': 'ELOB', 'score': 550.77}, {'connected_gene': 'MTCO1P28', 'score': 12.53}, {'connected_gene': 'SRRM2', 'score': 12.02}, {'connected_gene': 'SRRM2-AS1', 'score': 11.55}, {'connected_gene': 'TIGD7', 'score': 11.21}, {'connected_gene': 'PRSS27', 'score': 11.2}, {'connected_gene': 'CLUAP1', 'score': 11.15}, {'connected_gene': 'ENSG00000261123', 'score': 10.93}, {'connected_gene': 'KREMEN2', 'score': 10.64}, {'connected_gene': 'PAQR4', 'score': 10.64}, {'connected_gene': 'LOC105371049', 'score': 10.5}, {'connected_gene': 'ENSG00000260095', 'score': 10.45}, {'connected_gene': 'ZNF205', 'score': 10.24}, {'connected_gene': 'ZNF75A', 'score': 9.98}, {'connected_gene': 'ENSG00000260447', 'score': 9.68}, {'connected_gene': 'PRSS33', 'score': 6.69}, {'connected_gene': 'PRSS41', 'score': 4.79}, {'connected_gene': 'GC16M002778', 'score': 0.77}]
chr16 GH16I002772 2772762 2773581 0.66 [{'connected_gene': 'GC16P003008', 'score': 550.77}, {'connected_gene': 'SRRM2', 'score': 11.97}, {'connected_gene': 'PRSS27', 'score': 11.85}, {'connected_gene': 'SRRM2-AS1', 'score': 11.66}, {'connected_gene': 'PIR54527', 'score': 0.77}, {'connected_gene': 'ELOB', 'score': 0.77}]