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
ENST00000556125 [[69864731, 69865167], [69890810, 69890919], [69908548, 69908689], [69908785, 69908983], [69919957, 69920017]] None
ENST00000555245 [[69865102, 69865320], [69890810, 69890919], [69908785, 69908983], [69919957, 69920026], [69921528, 69921614], [69922448, 69922583], [69925079, 69925795]] None
ENST00000538956 [[69865106, 69865167], [69890810, 69890919], [69908548, 69908689], [69908785, 69908983], [69919957, 69920026], [69921528, 69921614], [69922448, 69922583], [69925079, 69925544]] None
ENST00000556605 [[69865406, 69866182], [69890810, 69890919], [69908785, 69908983], [69919957, 69920026], [69921528, 69921614], [69922448, 69922583], [69928413, 69929105]] [[69866086, 69866182], [69890810, 69890919], [69908785, 69908983], [69919957, 69920026], [69921528, 69921614], [69922448, 69922583], [69928413, 69928419]]
ENST00000336643 [[69865408, 69866182], [69890810, 69890919], [69908785, 69908983], [69919957, 69920026], [69921528, 69921614], [69922448, 69922583], [69925079, 69927268]] [[69866086, 69866182], [69890810, 69890919], [69908785, 69908983], [69919957, 69920026], [69921528, 69921614], [69922448, 69922583], [69925079, 69925310]]
ENST00000031146 [[69865408, 69866182], [69890810, 69890919], [69919957, 69920026], [69921528, 69921614], [69922448, 69922583], [69925079, 69929098]] [[69866086, 69866182], [69890810, 69890919], [69919957, 69920026], [69921528, 69921614], [69922448, 69922583], [69925079, 69925310]]
ENST00000554059 [[69865424, 69866182], [69890810, 69890919], [69895278, 69896174]] None
ENST00000555840 [[69865454, 69866182], [69890810, 69890919], [69908785, 69908983], [69919957, 69920026], [69921528, 69921614], [69922448, 69922583], [69925079, 69925446], [69928413, 69929098]] [[69866086, 69866182], [69890810, 69890919], [69908785, 69908983], [69919957, 69920026], [69921528, 69921614], [69922448, 69922583], [69925079, 69925310]]
ENST00000557046 [[69866086, 69866182], [69890810, 69890919], [69908785, 69908983], [69921528, 69921614], [69922448, 69922583], [69925079, 69925310]] [[69866086, 69866182], [69890810, 69890919], [69908785, 69908983], [69921528, 69921614], [69922448, 69922583], [69925079, 69925310]]
ENST00000554023 [[69921417, 69921614], [69922448, 69922583], [69925079, 69925260]] None
NM_001252152 [[69865095, 69865167], [69890810, 69890919], [69908548, 69908689], [69908785, 69908983], [69919957, 69920026], [69921528, 69921614], [69922448, 69922583], [69925079, 69929107]] [[69908934, 69908983], [69919957, 69920026], [69921528, 69921614], [69922448, 69922583], [69925079, 69925310]]
NM_001252151 [[69865095, 69865320], [69890810, 69890919], [69908785, 69908983], [69919957, 69920026], [69921528, 69921614], [69922448, 69922583], [69925079, 69929107]] [[69908934, 69908983], [69919957, 69920026], [69921528, 69921614], [69922448, 69922583], [69925079, 69925310]]
NM_001330185 [[69865384, 69866182], [69890810, 69890919], [69919957, 69920026], [69921528, 69921614], [69922448, 69922583], [69925079, 69929107]] [[69866086, 69866182], [69890810, 69890919], [69919957, 69920026], [69921528, 69921614], [69922448, 69922583], [69925079, 69925310]]
NM_001252148 [[69865384, 69866182], [69890810, 69890919], [69908785, 69908983], [69921528, 69921614], [69922448, 69922583], [69925079, 69929107]] [[69866086, 69866182], [69890810, 69890919], [69908785, 69908983], [69921528, 69921614], [69922448, 69922583], [69925079, 69925310]]
NM_001252150 [[69865384, 69866182], [69890810, 69890919], [69908785, 69908983], [69919957, 69920026], [69921528, 69921614], [69922448, 69922583], [69928413, 69929107]] [[69866086, 69866182], [69890810, 69890919], [69908785, 69908983], [69919957, 69920026], [69921528, 69921614], [69922448, 69922583], [69928413, 69928419]]
NM_018375 [[69865384, 69866182], [69890810, 69890919], [69908785, 69908983], [69919957, 69920026], [69921528, 69921614], [69922448, 69922583], [69925079, 69929107]] [[69866086, 69866182], [69890810, 69890919], [69908785, 69908983], [69919957, 69920026], [69921528, 69921614], [69922448, 69922583], [69925079, 69925310]]
Promoter
Chrom Start End Description
chr14 69865077 69865125 CAGE_peak_2_at_SLC39A9_5end
chr14 69865128 69865143 CAGE_peak_4_at_SLC39A9_5end
chr14 69865401 69865426 CAGE_peak_1_at_SLC39A9_5end
chr14 69865697 69865733 CAGE_peak_5_at_SLC39A9_5end
chr14 69926280 69926303 CAGE_peak_3_at_SLC39A9_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr14 GH14I069464 69464194 69465705 0.46 [{'connected_gene': 'GALNT16', 'score': 20.93}, {'connected_gene': 'SLC39A9', 'score': 10.88}, {'connected_gene': 'ERH', 'score': 10.88}, {'connected_gene': 'SRSF5', 'score': 9.82}, {'connected_gene': 'SMOC1', 'score': 4.69}, {'connected_gene': 'PLEKHD1', 'score': 0.37}]
chr14 GH14I069423 69423921 69425119 0.67 [{'connected_gene': 'GALNT16', 'score': 20.45}, {'connected_gene': 'SLC39A9', 'score': 11.72}, {'connected_gene': 'ERH', 'score': 11.72}, {'connected_gene': 'PLEKHD1', 'score': 0.21}]
chr14 GH14I069376 69376564 69376733 0.49 [{'connected_gene': 'GALNT16', 'score': 11.2}, {'connected_gene': 'GC14P069373', 'score': 0.77}, {'connected_gene': 'SLC39A9', 'score': 0.34}]
chr14 GH14I069439 69439601 69440400 0.46 [{'connected_gene': 'SLC39A9', 'score': 15.98}, {'connected_gene': 'GALNT16', 'score': 10.08}, {'connected_gene': 'PLEKHD1', 'score': 0.26}, {'connected_gene': 'ERH', 'score': 0.26}]
chr14 GH14I069501 69501172 69502047 0.38 [{'connected_gene': 'SLC39A9', 'score': 4.59}, {'connected_gene': 'PLEKHD1', 'score': 0.37}, {'connected_gene': 'GC14M069555', 'score': 0.23}]
chr14 GH14I069446 69446871 69447119 0.22 [{'connected_gene': 'SLC39A9', 'score': 18.96}, {'connected_gene': 'ERH', 'score': 11.06}, {'connected_gene': 'GALNT16', 'score': 10.7}, {'connected_gene': 'PLEKHD1', 'score': 0.28}]
chr14 GH14I069402 69401800 69402001 0.68 [{'connected_gene': 'SLC39A9', 'score': 0.77}, {'connected_gene': 'ERH', 'score': 0.77}, {'connected_gene': 'PLEKHD1', 'score': 0.18}]
chr14 GH14I069343 69343144 69343153 0.52 [{'connected_gene': 'SLC39A9', 'score': 11.6}, {'connected_gene': 'ERH', 'score': 11.59}, {'connected_gene': 'ENSG00000280073', 'score': 0.39}, {'connected_gene': 'LOC105370549', 'score': 0.26}, {'connected_gene': 'GALNT16', 'score': 0.18}]
chr14 GH14I069346 69346824 69346973 0.52 [{'connected_gene': 'SLC39A9', 'score': 11.6}, {'connected_gene': 'ERH', 'score': 11.6}, {'connected_gene': 'ENSG00000280073', 'score': 0.39}, {'connected_gene': 'LOC105370549', 'score': 0.25}, {'connected_gene': 'GALNT16', 'score': 0.17}]
chr14 GH14I069460 69460184 69460393 0.76 [{'connected_gene': 'PLEKHD1', 'score': 11.75}, {'connected_gene': 'GALNT16', 'score': 11.47}, {'connected_gene': 'SLC39A9', 'score': 10.88}, {'connected_gene': 'ERH', 'score': 10.88}]
chr14 GH14I069401 69401400 69401601 0.61 [{'connected_gene': 'ERH', 'score': 16.03}, {'connected_gene': 'SRSF5', 'score': 10.6}, {'connected_gene': 'GALNT16', 'score': 9.57}, {'connected_gene': 'SLC39A9', 'score': 0.77}, {'connected_gene': 'PLEKHD1', 'score': 0.18}]
chr14 GH14I069267 69267195 69269774 0.89 [{'connected_gene': 'ERH', 'score': 24.56}, {'connected_gene': 'SRSF5', 'score': 23.51}, {'connected_gene': 'RPL7AP6', 'score': 14.93}, {'connected_gene': 'DDX18P1', 'score': 12.83}, {'connected_gene': 'SUSD6', 'score': 12.23}, {'connected_gene': 'DCAF5', 'score': 10.88}, {'connected_gene': 'EXD2', 'score': 10.54}, {'connected_gene': 'SLC39A9', 'score': 10.33}, {'connected_gene': 'GALNT16', 'score': 9.34}, {'connected_gene': 'ACTN1', 'score': 4.64}, {'connected_gene': 'ENSG00000258520', 'score': 0.44}, {'connected_gene': 'GC14M069298', 'score': 0.29}]
chr14 GH14I069396 69396660 69401201 2.07 [{'connected_gene': 'ERH', 'score': 566.03}, {'connected_gene': 'SLC39A9', 'score': 550.77}, {'connected_gene': 'SRSF5', 'score': 51.7}, {'connected_gene': 'DDX18P1', 'score': 19.5}, {'connected_gene': 'DCAF5', 'score': 15.3}, {'connected_gene': 'RPL7AP6', 'score': 10.2}, {'connected_gene': 'GALNT16', 'score': 10.09}, {'connected_gene': 'PLEKHD1', 'score': 6.01}]
chr14 GH14I069298 69298884 69299033 0.31 [{'connected_gene': 'LOC105370549', 'score': 550.77}, {'connected_gene': 'GC14M069298', 'score': 550.77}, {'connected_gene': 'GALNT16', 'score': 17.06}, {'connected_gene': 'SLC39A9', 'score': 10.24}, {'connected_gene': 'ERH', 'score': 10.24}]
chr14 GH14I069357 69357394 69358559 0.73 [{'connected_gene': 'ENSG00000280073', 'score': 550.77}, {'connected_gene': 'SLC39A9', 'score': 7.85}, {'connected_gene': 'PIR43347', 'score': 0.77}, {'connected_gene': 'GALNT16', 'score': 0.15}]