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
ENST00000361837 [[2510080, 2510171], [2510283, 2510382], [2510623, 2510694], [2510816, 2511225], [2511747, 2511801], [2512149, 2512240], [2512415, 2512527], [2512631, 2512733], [2514039, 2514230], [2514522, 2514964]] [[2510145, 2510171], [2510283, 2510382], [2510623, 2510694], [2510816, 2511225], [2511747, 2511801], [2512149, 2512240], [2512415, 2512527], [2512631, 2512733], [2514039, 2514230], [2514522, 2514669]]
ENST00000569496 [[2510086, 2510171], [2510283, 2510382], [2510623, 2510694], [2510816, 2511225], [2511747, 2511801], [2512149, 2512240], [2512415, 2512527], [2512631, 2512733], [2514039, 2514927]] [[2510145, 2510171], [2510283, 2510382], [2510623, 2510694], [2510816, 2511225], [2511747, 2511801], [2512149, 2512240], [2512415, 2512527], [2512631, 2512733], [2514039, 2514293]]
ENST00000567489 [[2510094, 2510171], [2510623, 2510694], [2510816, 2511225], [2511747, 2511801], [2512149, 2512240], [2512415, 2512527], [2512631, 2512724]] [[2510145, 2510171], [2510623, 2510694], [2510816, 2511225], [2511747, 2511801], [2512149, 2512240], [2512415, 2512527], [2512631, 2512724]]
ENST00000565537 [[2510102, 2510171], [2510283, 2510758]] None
ENST00000569665 [[2510118, 2510171], [2510283, 2510382], [2510623, 2511053]] None
ENST00000569994 [[2510118, 2510171], [2510283, 2510694], [2510816, 2511225], [2511747, 2511801], [2512149, 2512240], [2512415, 2512527], [2512631, 2512733], [2514039, 2514963]] None
ENST00000563531 [[2510134, 2510171], [2510283, 2510382], [2510623, 2510694], [2510816, 2511225], [2511747, 2511801], [2512149, 2512240], [2512415, 2512527], [2512631, 2512733], [2514039, 2514928]] [[2510145, 2510171], [2510283, 2510382], [2510623, 2510694], [2510816, 2511225], [2511747, 2511801], [2512149, 2512240], [2512415, 2512527], [2512631, 2512733], [2514039, 2514293]]
ENST00000569664 [[2510145, 2510694], [2510816, 2511225], [2511747, 2511801], [2512149, 2512169]] None
ENST00000483320 [[2510145, 2510382], [2510623, 2510694], [2510816, 2511225], [2511747, 2511801], [2512149, 2512240], [2512415, 2512527], [2512631, 2512733], [2514039, 2514230], [2514522, 2514964]] [[2511121, 2511225], [2511747, 2511801], [2512149, 2512240], [2512415, 2512527], [2512631, 2512733], [2514039, 2514230], [2514522, 2514669]]
ENST00000562253 [[2510157, 2510382], [2510623, 2510694], [2510816, 2511450]] None
ENST00000568753 [[2510476, 2510694], [2511747, 2511801], [2512149, 2512240], [2512415, 2512527], [2512631, 2512733], [2514039, 2514112]] [[2512228, 2512240], [2512415, 2512527], [2512631, 2512733], [2514039, 2514112]]
ENST00000565716 [[2510937, 2511225], [2511747, 2511801], [2512149, 2512240], [2512415, 2512527], [2512631, 2512733], [2514154, 2514964]] [[2510937, 2511225], [2511747, 2511801], [2512149, 2512240], [2512415, 2512497]]
ENST00000566580 [[2511547, 2511801], [2512149, 2512240], [2512415, 2512433]] None
Promoter
Chrom Start End Description
chr16 2510094 2510152 CAGE_peak_1_at_C16orf59_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr16 GH16I002460 2459020 2459169 0.64 [{'connected_gene': 'TEDC2', 'score': 550.77}, {'connected_gene': 'PIR54822', 'score': 550.77}, {'connected_gene': 'LOC105371050', 'score': 550.77}, {'connected_gene': 'CCNF', 'score': 12.99}, {'connected_gene': 'ABCA17P', 'score': 11.47}, {'connected_gene': 'ABCA3', 'score': 11.47}]
chr16 GH16I002459 2459386 2460921 1.98 [{'connected_gene': 'TEDC2', 'score': 550.77}, {'connected_gene': 'LOC105371050', 'score': 550.77}, {'connected_gene': 'SRRM2', 'score': 32.54}, {'connected_gene': 'ZNF263', 'score': 30.53}, {'connected_gene': 'ENSG00000255513', 'score': 29.49}, {'connected_gene': 'SNORA64', 'score': 28.63}, {'connected_gene': 'LOC105371055', 'score': 27.67}, {'connected_gene': 'TELO2', 'score': 26.93}, {'connected_gene': 'ENSG00000260954', 'score': 25.08}, {'connected_gene': 'THOC6', 'score': 22.31}, {'connected_gene': 'E4F1', 'score': 21.36}, {'connected_gene': 'CRAMP1', 'score': 21.1}, {'connected_gene': 'ZNF598', 'score': 20.07}, {'connected_gene': 'SPSB3', 'score': 13.79}, {'connected_gene': 'CCNF', 'score': 12.97}, {'connected_gene': 'SNORD60', 'score': 12.79}, {'connected_gene': 'TRAF7', 'score': 12.6}, {'connected_gene': 'ERVK13-1', 'score': 12.25}, {'connected_gene': 'NUBP2', 'score': 12.09}, {'connected_gene': 'ABCA3', 'score': 11.47}, {'connected_gene': 'ABCA17P', 'score': 11.47}, {'connected_gene': 'ZNF597', 'score': 10.73}, {'connected_gene': 'TSC2', 'score': 10.73}, {'connected_gene': 'LOC652276', 'score': 10.21}, {'connected_gene': 'GC16M002463', 'score': 0.77}]
chr16 GH16I002467 2467006 2472383 2.47 [{'connected_gene': 'NTN3', 'score': 559.11}, {'connected_gene': 'LOC729652', 'score': 550.77}, {'connected_gene': 'ZNF75A', 'score': 19.36}, {'connected_gene': 'ZNF213-AS1', 'score': 12.98}, {'connected_gene': 'ERVK13-1', 'score': 12.73}, {'connected_gene': 'LOC106660606', 'score': 12.23}, {'connected_gene': 'NME3', 'score': 12.2}, {'connected_gene': 'MTCO1P28', 'score': 11.35}, {'connected_gene': 'ENSG00000260646', 'score': 11.12}, {'connected_gene': 'SNORD60', 'score': 10.37}, {'connected_gene': 'SNHG19', 'score': 10.16}, {'connected_gene': 'ZNF205', 'score': 10.01}, {'connected_gene': 'TSC2', 'score': 10.0}, {'connected_gene': 'RAB26', 'score': 7.89}, {'connected_gene': 'TBC1D24', 'score': 4.99}, {'connected_gene': 'TEDC2', 'score': 3.86}, {'connected_gene': 'E4F1', 'score': 2.38}, {'connected_gene': 'CCNF', 'score': 1.46}, {'connected_gene': 'SRRM2', 'score': 1.38}]
chr16 GH16I002463 2463612 2466095 0.73 [{'connected_gene': 'MIR6768', 'score': 550.77}, {'connected_gene': 'GC16M002463', 'score': 550.77}, {'connected_gene': 'LOC652276', 'score': 9.31}, {'connected_gene': 'TEDC2', 'score': 0.77}, {'connected_gene': 'LOC729652', 'score': 0.77}]