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
ENST00000555447 [[81726999, 81728275], [81737013, 81737216], [81743244, 81745083], [81837331, 81837529], [81862237, 81862522], [81864638, 81864924], [81893445, 81893556], [81893644, 81893748]] [[81728125, 81728275], [81737013, 81737216], [81743244, 81745083], [81837331, 81837529], [81862237, 81862522], [81864638, 81864726]]
ENST00000267540 [[81736850, 81737216], [81743244, 81745083], [81837331, 81837529], [81862237, 81862522], [81864638, 81864927]] [[81736908, 81737216], [81743244, 81745083], [81837331, 81837529], [81862237, 81862522], [81864638, 81864726]]
ENST00000556280 [[81744819, 81745083], [81772975, 81773094], [81789846, 81790027]] None
ENST00000553821 [[81734391, 81734841], [81737013, 81737216], [81743244, 81743277]] [[81734757, 81734841], [81737013, 81737216], [81743244, 81743277]]
ENST00000555284 [[81736772, 81737216], [81743244, 81745162]] None
ENST00000555226 [[81861293, 81862522], [81864638, 81864924], [81884506, 81884597]] None
ENST00000557055 [[81862461, 81862522], [81864638, 81864924], [81893445, 81893556], [81902664, 81902809]] [[81862461, 81862522], [81864638, 81864726]]
ENST00000554710 [[81864716, 81864924], [81893445, 81893556], [81902431, 81902551]] [[81864716, 81864726]]
NM_033104 [[81726993, 81737216], [81743244, 81745083], [81837331, 81837529], [81862237, 81862522], [81864638, 81864924], [81893445, 81893556]] [[81736908, 81737216], [81743244, 81745083], [81837331, 81837529], [81862237, 81862522], [81864638, 81864726]]
NM_001256430 [[81726993, 81728275], [81737013, 81737216], [81743244, 81745083], [81837331, 81837529], [81862237, 81862522], [81864638, 81864924], [81893445, 81893556], [81893644, 81893748]] [[81728125, 81728275], [81737013, 81737216], [81743244, 81745083], [81837331, 81837529], [81862237, 81862522], [81864638, 81864726]]
Promoter
Chrom Start End Description
chr14 81790486 81790538 CAGE_peak_1_at_STON2_5end
chr14 81893690 81893700 CAGE_peak_10_at_STON2_5end
chr14 81893734 81893794 CAGE_peak_3_at_STON2_5end
chr14 81893797 81893814 CAGE_peak_4_at_STON2_5end
chr14 81893881 81893896 CAGE_peak_7_at_STON2_5end
chr14 81894113 81894122 CAGE_peak_5_at_STON2_5end
chr14 81902516 81902528 CAGE_peak_6_at_STON2_5end
chr14 81902791 81902825 CAGE_peak_2_at_STON2_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr14 GH14I081415 81415819 81416911 1.02 [{'connected_gene': 'STON2', 'score': 7.66}, {'connected_gene': 'DYNLL1P2', 'score': 0.77}]
chr14 GH14I081433 81433415 81434158 0.62 [{'connected_gene': 'STON2', 'score': 0.77}, {'connected_gene': 'DYNLL1P2', 'score': 0.34}]
chr14 GH14I081432 81432277 81432426 0.92 [{'connected_gene': 'STON2', 'score': 0.77}, {'connected_gene': 'DYNLL1P2', 'score': 0.37}]
chr14 GH14I081407 81407017 81407166 0.49 [{'connected_gene': 'STON2', 'score': 4.71}, {'connected_gene': 'GC14P081410', 'score': 0.77}, {'connected_gene': 'RPS24P3', 'score': 0.19}]
chr14 GH14I081392 81392731 81394292 0.4 [{'connected_gene': 'STON2', 'score': 5.65}, {'connected_gene': 'GC14P081410', 'score': 0.37}, {'connected_gene': 'RPS24P3', 'score': 0.21}]
chr14 GH14I081381 81381908 81383432 0.46 [{'connected_gene': 'STON2', 'score': 5.0}, {'connected_gene': 'GC14P081410', 'score': 0.31}, {'connected_gene': 'RPS24P3', 'score': 0.25}]
chr14 GH14I081434 81434277 81437366 1.68 [{'connected_gene': 'STON2', 'score': 554.99}, {'connected_gene': 'GTF2A1', 'score': 11.34}, {'connected_gene': 'LINC02308', 'score': 4.67}, {'connected_gene': 'DYNLL1P2', 'score': 0.34}]
chr14 GH14I081398 81398535 81403022 2.17 [{'connected_gene': 'STON2', 'score': 555.48}, {'connected_gene': 'GTF2A1', 'score': 12.83}, {'connected_gene': 'LINC02308', 'score': 4.56}, {'connected_gene': 'GC14P081410', 'score': 0.44}, {'connected_gene': 'RPS24P3', 'score': 0.2}]
chr14 GH14I081437 81437457 81437606 0.52 [{'connected_gene': 'STON2', 'score': 550.77}, {'connected_gene': 'GTF2A1', 'score': 11.34}, {'connected_gene': 'LINC02308', 'score': 0.39}]
chr14 GH14I081422 81422801 81428583 1.87 [{'connected_gene': 'STON2', 'score': 557.75}, {'connected_gene': 'LINC02308', 'score': 5.73}, {'connected_gene': 'DYNLL1P2', 'score': 0.39}]
chr14 GH14I081413 81413196 81413255 0.7 [{'connected_gene': 'DYNLL1P2', 'score': 550.77}, {'connected_gene': 'STON2', 'score': 550.34}]
chr14 GH14I081417 81417097 81417186 0.56 [{'connected_gene': 'DYNLL1P2', 'score': 0.77}, {'connected_gene': 'STON2', 'score': 0.37}]
chr14 GH14I081128 81128934 81129188 0.24 [{'connected_gene': 'SNORA79', 'score': 10.31}, {'connected_gene': 'GTF2A1', 'score': 10.28}, {'connected_gene': 'CEP128', 'score': 9.96}, {'connected_gene': 'TSHR', 'score': 8.43}, {'connected_gene': 'STON2', 'score': 1.33}, {'connected_gene': 'LOC105370594', 'score': 0.28}, {'connected_gene': 'LOC101928462', 'score': 0.26}, {'connected_gene': 'NMNAT1P1', 'score': 0.15}]
chr14 GH14I081130 81130728 81131014 0.22 [{'connected_gene': 'SNORA79', 'score': 10.31}, {'connected_gene': 'GTF2A1', 'score': 10.28}, {'connected_gene': 'CEP128', 'score': 9.95}, {'connected_gene': 'TSHR', 'score': 5.04}, {'connected_gene': 'STON2', 'score': 1.31}, {'connected_gene': 'LOC105370594', 'score': 0.28}, {'connected_gene': 'LOC101928462', 'score': 0.26}, {'connected_gene': 'NMNAT1P1', 'score': 0.15}]
chr14 GH14I081320 81320752 81325156 1.1 [{'connected_gene': 'NMNAT1P1', 'score': 4.09}, {'connected_gene': 'GC14M081333', 'score': 0.39}, {'connected_gene': 'GC14M081294', 'score': 0.31}, {'connected_gene': 'STON2', 'score': 0.14}]
chr14 GH14I081363 81363422 81364746 0.2 [{'connected_gene': 'RPS24P3', 'score': 0.29}, {'connected_gene': 'GC14P081410', 'score': 0.25}, {'connected_gene': 'STON2', 'score': 0.19}]
chr14 GH14I081366 81366397 81366546 0.2 [{'connected_gene': 'RPS24P3', 'score': 0.29}, {'connected_gene': 'GC14P081410', 'score': 0.26}, {'connected_gene': 'STON2', 'score': 0.2}]
chr14 GH14I081269 81269401 81269800 0.91 [{'connected_gene': 'UNGP3', 'score': 0.44}, {'connected_gene': 'GC14M081259', 'score': 0.44}, {'connected_gene': 'PIR41338', 'score': 0.44}, {'connected_gene': 'STON2', 'score': 0.1}]
chr14 GH14I081267 81267663 81268954 0.8 [{'connected_gene': 'GTF2A1', 'score': 11.77}, {'connected_gene': 'UNGP3', 'score': 0.44}, {'connected_gene': 'GC14M081259', 'score': 0.44}, {'connected_gene': 'PIR41338', 'score': 0.44}, {'connected_gene': 'STON2', 'score': 0.1}]
chr14 GH14I080908 80908835 80909221 0.24 [{'connected_gene': 'CEP128', 'score': 6.34}, {'connected_gene': 'STON2', 'score': 3.41}, {'connected_gene': 'PIR53916', 'score': 0.77}, {'connected_gene': 'TSHR', 'score': 0.25}]
chr14 GH14I081429 81429659 81431302 0.57 [{'connected_gene': 'LINC02308', 'score': 6.03}, {'connected_gene': 'STON2', 'score': 0.44}, {'connected_gene': 'DYNLL1P2', 'score': 0.37}]
chr14 GH14I081446 81446813 81447666 0.2 [{'connected_gene': 'LINC02308', 'score': 0.77}, {'connected_gene': 'STON2', 'score': 0.39}]
chr14 GH14I081448 81448611 81451209 0.86 [{'connected_gene': 'LINC02308', 'score': 550.77}, {'connected_gene': 'STON2', 'score': 0.39}]
chr14 GH14I081385 81385903 81386919 0.43 [{'connected_gene': 'GC14P081410', 'score': 0.34}, {'connected_gene': 'STON2', 'score': 0.23}, {'connected_gene': 'RPS24P3', 'score': 0.23}]
chr14 GH14I081408 81408717 81408866 0.72 [{'connected_gene': 'GC14P081410', 'score': 550.77}, {'connected_gene': 'STON2', 'score': 5.77}, {'connected_gene': 'RPS24P3', 'score': 0.18}]
chr14 GH14I081396 81396237 81396426 0.51 [{'connected_gene': 'GC14P081410', 'score': 0.39}, {'connected_gene': 'STON2', 'score': 0.26}, {'connected_gene': 'RPS24P3', 'score': 0.21}]
chr14 GH14I081301 81301992 81302086 0.2 [{'connected_gene': 'GC14M081294', 'score': 0.77}, {'connected_gene': 'GC14M081333', 'score': 0.29}, {'connected_gene': 'STON2', 'score': 0.12}]
chr14 GH14I081325 81325531 81327297 0.38 [{'connected_gene': 'GC14M081333', 'score': 0.44}, {'connected_gene': 'GC14M081294', 'score': 0.31}, {'connected_gene': 'STON2', 'score': 0.14}]
chr14 GH14I081302 81302123 81305259 1.43 [{'connected_gene': 'GC14M081294', 'score': 0.44}, {'connected_gene': 'GC14M081333', 'score': 0.31}, {'connected_gene': 'STON2', 'score': 0.12}]
chr14 GH14I081311 81311228 81316648 0.83 [{'connected_gene': 'GC14M081294', 'score': 0.37}, {'connected_gene': 'GC14M081333', 'score': 0.37}, {'connected_gene': 'STON2', 'score': 0.13}]
chr14 GH14I081328 81328625 81332419 0.66 [{'connected_gene': 'GC14M081333', 'score': 0.77}, {'connected_gene': 'GC14M081294', 'score': 0.29}, {'connected_gene': 'STON2', 'score': 0.14}]
chr14 GH14I081275 81275406 81276817 0.59 [{'connected_gene': 'PIR41338', 'score': 550.77}, {'connected_gene': 'UNGP3', 'score': 0.37}, {'connected_gene': 'GC14M081259', 'score': 0.37}, {'connected_gene': 'STON2', 'score': 0.1}]
chr14 GH14I081274 81274248 81274528 0.38 [{'connected_gene': 'PIR41338', 'score': 0.77}, {'connected_gene': 'UNGP3', 'score': 0.39}, {'connected_gene': 'GC14M081259', 'score': 0.39}, {'connected_gene': 'STON2', 'score': 0.1}]