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
ENST00000452177 [[946553, 946754], [1079203, 1079341], [1093881, 1093938], [1094038, 1094096], [1099090, 1099128], [1133307, 1133351], [1133453, 1133495], [1156117, 1157357]] [[946682, 946754], [1079203, 1079341], [1093881, 1093938], [1094038, 1094096], [1099090, 1099128], [1133307, 1133334]]
ENST00000450962 [[946553, 946754], [1079203, 1079341], [1093881, 1093938], [1094038, 1094096], [1099090, 1099128], [1133307, 1133351], [1133453, 1133495], [1161233, 1161321]] [[946682, 946754], [1079203, 1079341], [1093881, 1093938], [1094038, 1094096], [1099090, 1099128], [1133307, 1133334]]
ENST00000308624 [[946553, 946754], [1079203, 1079341], [1093881, 1093938], [1094038, 1094096], [1133307, 1133351], [1133453, 1133495], [1161233, 1161321], [1168777, 1168869], [1204788, 1204916], [1241659, 1241789], [1243509, 1243548], [1251098, 1251215], [1263141, 1263213], [1271136, 1271343], [1312265, 1312358], [1320036, 1320147], [1371114, 1371385]] [[946682, 946754], [1079203, 1079341], [1093881, 1093938], [1094038, 1094096], [1133307, 1133351], [1133453, 1133495], [1161233, 1161321], [1168777, 1168869], [1204788, 1204916], [1241659, 1241789], [1243509, 1243548], [1251098, 1251215], [1263141, 1263213], [1271136, 1271343], [1312265, 1312358], [1320036, 1320147], [1371114, 1371246]]
ENST00000407292 [[946624, 946754], [1079203, 1079341], [1204788, 1204916], [1241659, 1241789], [1243509, 1243548], [1251098, 1251215], [1263141, 1263213], [1271136, 1271343], [1312265, 1312358], [1320036, 1320147], [1371114, 1371385]] [[946682, 946754], [1079203, 1079341], [1204788, 1204916], [1241659, 1241789], [1243509, 1243548], [1251098, 1251215], [1263141, 1263213], [1271136, 1271343], [1312265, 1312358], [1320036, 1320147], [1371114, 1371246]]
ENST00000463442 [[1098231, 1098396], [1099090, 1099128], [1133307, 1133351], [1133453, 1133495], [1161233, 1161321], [1168777, 1168869], [1204788, 1204916]] None
ENST00000467759 [[1158932, 1158975], [1161233, 1161321], [1168777, 1168869], [1204788, 1204916], [1206142, 1206365], [1215567, 1215743]] None
ENST00000475201 [[1158932, 1158975], [1161233, 1161321], [1168777, 1168869], [1215567, 1215743]] None
ENST00000494178 [[1159248, 1159411], [1161233, 1161321], [1168777, 1168869], [1204788, 1204916], [1243509, 1243548], [1246509, 1246557]] None
ENST00000471239 [[1266615, 1266721], [1271136, 1271343], [1312265, 1312358], [1320036, 1320147], [1371114, 1371220]] None
ENST00000498321 [[1204814, 1204916], [1206142, 1206365], [1215567, 1215743]] None
ENST00000489646 [[1251096, 1251215], [1260176, 1260376]] None
ENST00000472606 [[1357459, 1357636], [1371114, 1371385]] None
NM_018968 [[946553, 946754], [1079203, 1079341], [1093881, 1093938], [1094038, 1094096], [1133307, 1133351], [1133453, 1133495], [1161233, 1161321], [1168777, 1168869], [1204788, 1204916], [1241659, 1241789], [1243509, 1243548], [1251098, 1251215], [1263141, 1263213], [1271136, 1271343], [1312265, 1312358], [1320036, 1320147], [1371114, 1371385]] [[946682, 946754], [1079203, 1079341], [1093881, 1093938], [1094038, 1094096], [1133307, 1133351], [1133453, 1133495], [1161233, 1161321], [1168777, 1168869], [1204788, 1204916], [1241659, 1241789], [1243509, 1243548], [1251098, 1251215], [1263141, 1263213], [1271136, 1271343], [1312265, 1312358], [1320036, 1320147], [1371114, 1371246]]
Promoter
Chrom Start End Description
chr2 946522 946540 CAGE_peak_2_at_SNTG2_5end
chr2 946543 946579 CAGE_peak_1_at_SNTG2_5end
chr2 1098240 1098249 CAGE_peak_3_at_SNTG2_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I001366 1366371 1367062 0.69 [{'connected_gene': 'TPO', 'score': 0.44}, {'connected_gene': 'GC02P001350', 'score': 0.37}, {'connected_gene': 'SNTG2', 'score': 0.05}]
chr2 GH02I000949 949526 951201 1.16 [{'connected_gene': 'SNTG2', 'score': 550.77}, {'connected_gene': 'LOC105373352', 'score': 5.66}, {'connected_gene': 'LOC101060391', 'score': 0.77}, {'connected_gene': 'GC02P000941', 'score': 0.44}]
chr2 GH02I001052 1052504 1053448 0.2 [{'connected_gene': 'SNTG2', 'score': 6.32}, {'connected_gene': 'LOC101060391', 'score': 5.12}, {'connected_gene': 'GC02M001037', 'score': 0.39}, {'connected_gene': 'ENSG00000235403', 'score': 0.37}]
chr2 GH02I000946 946401 946600 0.2 [{'connected_gene': 'SNTG2', 'score': 0.77}, {'connected_gene': 'GC02P000941', 'score': 0.44}]
chr2 GH02I000923 923984 926184 0.43 [{'connected_gene': 'LOC101060391', 'score': 13.31}, {'connected_gene': 'SNTG2', 'score': 13.31}, {'connected_gene': 'SH3YL1', 'score': 5.64}, {'connected_gene': 'LINC01939', 'score': 5.34}, {'connected_gene': 'ENSG00000234796', 'score': 0.77}, {'connected_gene': 'GC02P000941', 'score': 0.37}]
chr2 GH02I001492 1492318 1494919 0.31 [{'connected_gene': 'ENSG00000236665', 'score': 10.99}, {'connected_gene': 'SNTG2', 'score': 10.96}, {'connected_gene': 'TPO', 'score': 7.43}, {'connected_gene': 'GC02M001476', 'score': 0.44}, {'connected_gene': 'GC02P001475', 'score': 0.37}, {'connected_gene': 'LOC102723730', 'score': 0.23}]
chr2 GH02I001486 1486782 1489208 0.43 [{'connected_gene': 'ENSG00000236665', 'score': 10.99}, {'connected_gene': 'SNTG2', 'score': 10.96}, {'connected_gene': 'TPO', 'score': 7.49}, {'connected_gene': 'GC02M001476', 'score': 0.77}, {'connected_gene': 'GC02P001475', 'score': 0.39}, {'connected_gene': 'LOC102723730', 'score': 0.21}]
chr2 GH02I001053 1053776 1056249 0.51 [{'connected_gene': 'GC02M001037', 'score': 0.39}, {'connected_gene': 'ENSG00000235403', 'score': 0.39}, {'connected_gene': 'SNTG2', 'score': 0.15}]
chr2 GH02I001119 1119558 1119570 0.24 [{'connected_gene': 'GC02P001119', 'score': 550.77}, {'connected_gene': 'GC02M001113', 'score': 550.77}, {'connected_gene': 'SNTG2', 'score': 5.89}]
chr2 GH02I000728 728195 730344 0.77 [{'connected_gene': 'ENSG00000227713', 'score': 550.77}, {'connected_gene': 'TMEM18', 'score': 8.51}, {'connected_gene': 'SNTG2', 'score': 5.53}, {'connected_gene': 'LOC105373358', 'score': 0.39}]
chr2 GH02I001162 1162098 1164054 0.72 [{'connected_gene': 'ENSG00000236665', 'score': 0.77}, {'connected_gene': 'LOC105373359', 'score': 0.1}, {'connected_gene': 'SNTG2', 'score': 0.08}]
chr2 GH02I001231 1231729 1231858 0.31 [{'connected_gene': 'ENSG00000236665', 'score': 0.19}, {'connected_gene': 'LOC105373359', 'score': 0.18}, {'connected_gene': 'SNTG2', 'score': 0.06}]
chr2 GH02I000973 973666 974780 0.51 [{'connected_gene': 'GC02M000985', 'score': 0.39}, {'connected_gene': 'LOC101060391', 'score': 0.37}, {'connected_gene': 'SNTG2', 'score': 0.34}]
chr2 GH02I000979 979401 979600 0.2 [{'connected_gene': 'GC02M000985', 'score': 0.44}, {'connected_gene': 'LOC101060391', 'score': 0.34}, {'connected_gene': 'SNTG2', 'score': 0.31}]