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
ENST00000493998 [[1468100, 1468427], [1477170, 1477247]] None
ENST00000496184 [[1468114, 1468427], [1476377, 1477244], [1477525, 1479067]] None
ENST00000472100 [[1468254, 1468427], [1473845, 1474783], [1476377, 1476492], [1477170, 1477244], [1477525, 1477616], [1477732, 1477856], [1477924, 1477989], [1478475, 1478631], [1479560, 1479721], [1480226, 1482120], [1484287, 1485064], [1486348, 1486464], [1487210, 1487401], [1488255, 1488397], [1489875, 1489924], [1498819, 1499001]] None
ENST00000467783 [[1473994, 1474535], [1479560, 1479658]] None
ENST00000467394 [[1473995, 1474308], [1474736, 1474783], [1476377, 1476492], [1477170, 1477244], [1477525, 1477616], [1477732, 1477856], [1477924, 1477989], [1478475, 1478631], [1479560, 1479721], [1480226, 1481160]] None
ENST00000405088 [[1473995, 1474308], [1474736, 1474783], [1476377, 1476492], [1477170, 1477244], [1477525, 1477616], [1477732, 1477856], [1477924, 1477989], [1478475, 1478631], [1479560, 1479721], [1480226, 1480320], [1481827, 1482120], [1484287, 1484986], [1498879, 1498962]] [[1474231, 1474308], [1474736, 1474783], [1476377, 1476492], [1477170, 1477244], [1477525, 1477616], [1477732, 1477856], [1477924, 1477989], [1478475, 1478631], [1479560, 1479721], [1480226, 1480320], [1481827, 1482120], [1484287, 1484986], [1498879, 1498962]]
ENST00000470807 [[1474001, 1474308], [1474736, 1474783], [1476377, 1476492], [1477069, 1477244], [1477525, 1477549]] None
ENST00000471899 [[1474001, 1474308], [1476377, 1476492], [1477170, 1477244], [1477525, 1477616], [1477732, 1477856], [1477924, 1477989], [1478475, 1478598]] None
ENST00000479007 [[1474001, 1474308], [1474736, 1474783], [1476377, 1476492], [1477170, 1477244], [1477525, 1477616], [1477732, 1477856], [1477924, 1477989], [1478475, 1479507]] None
ENST00000413446 [[1474001, 1474308], [1474736, 1474783], [1476377, 1476492], [1477170, 1477244], [1477525, 1477616], [1477732, 1477856], [1477924, 1477989], [1478475, 1478627], [1479560, 1479721], [1480226, 1480320], [1481827, 1482120], [1484287, 1485064], [1486348, 1486464], [1487210, 1487401], [1488255, 1488397], [1489875, 1490172]] [[1477938, 1477989], [1478475, 1478627], [1479560, 1479721], [1480226, 1480320], [1481827, 1482120], [1484287, 1485064], [1486348, 1486464], [1487210, 1487401], [1488255, 1488397], [1489875, 1489941]]
ENST00000297508 [[1474001, 1474308], [1474736, 1474783], [1476377, 1476492], [1477170, 1477244], [1477525, 1477616], [1477732, 1477856], [1477924, 1477989], [1478475, 1478631], [1479560, 1479721], [1480226, 1480320], [1481827, 1482120], [1484287, 1485064], [1486348, 1486464], [1487210, 1487401], [1488255, 1488397], [1489875, 1489924], [1498819, 1499138]] [[1474231, 1474308], [1474736, 1474783], [1476377, 1476492], [1477170, 1477244], [1477525, 1477616], [1477732, 1477856], [1477924, 1477989], [1478475, 1478631], [1479560, 1479721], [1480226, 1480320], [1481827, 1482120], [1484287, 1485064], [1486348, 1486464], [1487210, 1487401], [1488255, 1488397], [1489875, 1489924], [1498819, 1498962]]
ENST00000487187 [[1476378, 1476492], [1477170, 1477244], [1477732, 1477989], [1478475, 1478794]] None
ENST00000460198 [[1477171, 1477244], [1477525, 1477616], [1477732, 1478101]] None
ENST00000487156 [[1478560, 1478631], [1479560, 1480363]] None
ENST00000482839 [[1484706, 1485064], [1486348, 1486464], [1487210, 1487588]] None
ENST00000490608 [[1486292, 1486464], [1487210, 1487669]] None
NM_182924 [[1473994, 1474308], [1474736, 1474783], [1476377, 1476492], [1477170, 1477244], [1477525, 1477616], [1477732, 1477856], [1477924, 1477989], [1478475, 1478631], [1479560, 1479721], [1480226, 1480320], [1481827, 1482120], [1484287, 1485064], [1486348, 1486464], [1487210, 1487401], [1488255, 1488397], [1489875, 1489924], [1498819, 1499109]] [[1474231, 1474308], [1474736, 1474783], [1476377, 1476492], [1477170, 1477244], [1477525, 1477616], [1477732, 1477856], [1477924, 1477989], [1478475, 1478631], [1479560, 1479721], [1480226, 1480320], [1481827, 1482120], [1484287, 1485064], [1486348, 1486464], [1487210, 1487401], [1488255, 1488397], [1489875, 1489924], [1498819, 1498962]]
Promoter
Chrom Start End Description
chr7 1499097 1499114 CAGE_peak_1_at_MICALL2_5end
chr7 1499116 1499122 CAGE_peak_3_at_MICALL2_5end
chr7 1499123 1499150 CAGE_peak_2_at_MICALL2_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr7 GH07I001451 1451422 1452088 0.2 [{'connected_gene': 'PSMG3', 'score': 11.21}, {'connected_gene': 'PSMG3-AS1', 'score': 11.21}, {'connected_gene': 'MICALL2', 'score': 0.44}, {'connected_gene': 'ENSG00000233082', 'score': 0.09}]
chr7 GH07I001456 1456872 1464041 2.57 [{'connected_gene': 'MICALL2', 'score': 550.77}, {'connected_gene': 'ENSG00000225981', 'score': 550.77}, {'connected_gene': 'INTS1', 'score': 44.63}, {'connected_gene': 'DNAAF5', 'score': 30.01}, {'connected_gene': 'SUN1', 'score': 21.68}, {'connected_gene': 'CHST12', 'score': 19.59}, {'connected_gene': 'EIF3B', 'score': 12.07}, {'connected_gene': 'MRM2', 'score': 10.68}, {'connected_gene': 'MAFK', 'score': 5.19}, {'connected_gene': 'ENSG00000273230', 'score': 0.44}]
chr7 GH07I001473 1473705 1475054 1.15 [{'connected_gene': 'MICALL2', 'score': 5.29}, {'connected_gene': 'ENSG00000273230', 'score': 0.44}, {'connected_gene': 'GC07M001472', 'score': 0.44}, {'connected_gene': 'INTS1', 'score': 0.29}]
chr7 GH07I001475 1475449 1476127 0.31 [{'connected_gene': 'MICALL2', 'score': 6.72}, {'connected_gene': 'ENSG00000273230', 'score': 0.44}, {'connected_gene': 'GC07M001472', 'score': 0.44}, {'connected_gene': 'INTS1', 'score': 0.31}]
chr7 GH07I001446 1446578 1447105 0.52 [{'connected_gene': 'MICALL2', 'score': 0.39}, {'connected_gene': 'ENSG00000233082', 'score': 0.1}]
chr7 GH07I001369 1369165 1369334 0.79 [{'connected_gene': 'MICALL2', 'score': 0.16}, {'connected_gene': 'ENSG00000233082', 'score': 0.15}]
chr7 GH07I001411 1411852 1413533 1.1 [{'connected_gene': 'MICALL2', 'score': 5.76}, {'connected_gene': 'ENSG00000233082', 'score': 0.11}]
chr7 GH07I001447 1447453 1448826 0.6 [{'connected_gene': 'MICALL2', 'score': 0.39}, {'connected_gene': 'ENSG00000233082', 'score': 0.09}]
chr7 GH07I001452 1452385 1452534 0.63 [{'connected_gene': 'MICALL2', 'score': 0.44}, {'connected_gene': 'ENSG00000233082', 'score': 0.09}]
chr7 GH07I001418 1418545 1418734 0.74 [{'connected_gene': 'MICALL2', 'score': 0.26}, {'connected_gene': 'ENSG00000233082', 'score': 0.1}]
chr7 GH07I001444 1444281 1446197 0.43 [{'connected_gene': 'MICALL2', 'score': 0.39}, {'connected_gene': 'ENSG00000233082', 'score': 0.1}]
chr7 GH07I001417 1417422 1418000 1.03 [{'connected_gene': 'CHST12', 'score': 10.26}, {'connected_gene': 'MICALL2', 'score': 7.54}, {'connected_gene': 'ENSG00000233082', 'score': 0.1}]
chr7 GH07I001323 1323362 1323789 0.49 [{'connected_gene': 'UNCX', 'score': 11.73}, {'connected_gene': 'ENSG00000233082', 'score': 0.22}, {'connected_gene': 'MICALL2', 'score': 0.12}]
chr7 GH07I002279 2279311 2282974 1 [{'connected_gene': 'SNX8', 'score': 7.27}, {'connected_gene': 'MICALL2', 'score': 6.58}, {'connected_gene': 'IMMP1LP3', 'score': 0.44}, {'connected_gene': 'GC07P002270', 'score': 0.39}]
chr7 GH07I001453 1453934 1456433 1.2 [{'connected_gene': 'INTS1', 'score': 31.88}, {'connected_gene': 'ENSG00000225981', 'score': 15.7}, {'connected_gene': 'EIF3B', 'score': 10.44}, {'connected_gene': 'MICALL2', 'score': 0.77}, {'connected_gene': 'ENSG00000233082', 'score': 0.09}]
chr7 GH07I001377 1377178 1377521 0.53 [{'connected_gene': 'INTS1', 'score': 5.35}, {'connected_gene': 'MICALL2', 'score': 0.18}, {'connected_gene': 'ENSG00000233082', 'score': 0.14}]
chr7 GH07I001512 1512202 1518419 1.65 [{'connected_gene': 'INTS1', 'score': 23.41}, {'connected_gene': 'TMEM184A', 'score': 16.8}, {'connected_gene': 'MAFK', 'score': 6.9}, {'connected_gene': 'MICALL2', 'score': 5.2}, {'connected_gene': 'ZFAND2A', 'score': 2.92}, {'connected_gene': 'ENSG00000231927', 'score': 0.44}]
chr7 GH07I001289 1289271 1291691 1.04 [{'connected_gene': 'INTS1', 'score': 4.75}, {'connected_gene': 'PSMG3-AS1', 'score': 4.47}, {'connected_gene': 'ENSG00000233082', 'score': 0.34}, {'connected_gene': 'MICALL2', 'score': 0.1}]
chr7 GH07I001553 1553774 1561271 1.92 [{'connected_gene': 'TMEM184A', 'score': 564.19}, {'connected_gene': 'INTS1', 'score': 11.78}, {'connected_gene': 'PSMG3-AS1', 'score': 7.7}, {'connected_gene': 'MICALL2', 'score': 4.51}, {'connected_gene': 'PIR48186', 'score': 0.37}]
chr7 GH07I001449 1449796 1451396 0.31 [{'connected_gene': 'PSMG3-AS1', 'score': 11.21}, {'connected_gene': 'PSMG3', 'score': 11.21}, {'connected_gene': 'MICALL2', 'score': 0.44}, {'connected_gene': 'ENSG00000233082', 'score': 0.09}]
chr7 GH07I001313 1313485 1314691 0.43 [{'connected_gene': 'ENSG00000233082', 'score': 0.25}, {'connected_gene': 'MICALL2', 'score': 0.11}]
chr7 GH07I001300 1300117 1303083 0.43 [{'connected_gene': 'ENSG00000233082', 'score': 0.29}, {'connected_gene': 'MICALL2', 'score': 0.1}]
chr7 GH07I001274 1274522 1276887 0.52 [{'connected_gene': 'ENSG00000233082', 'score': 0.44}, {'connected_gene': 'MICALL2', 'score': 0.09}]
chr7 GH07I001297 1297788 1298099 0.6 [{'connected_gene': 'ENSG00000233082', 'score': 0.29}, {'connected_gene': 'MICALL2', 'score': 0.1}]
chr7 GH07I001268 1268983 1269209 1 [{'connected_gene': 'ENSG00000233082', 'score': 550.77}, {'connected_gene': 'MICALL2', 'score': 0.08}]
chr7 GH07I001540 1540666 1542184 0.38 [{'connected_gene': 'PIR48186', 'score': 550.77}, {'connected_gene': 'PIR32494', 'score': 550.77}, {'connected_gene': 'GC07P001540', 'score': 550.77}, {'connected_gene': 'INTS1', 'score': 17.86}, {'connected_gene': 'MICALL2', 'score': 7.13}, {'connected_gene': 'MAFK', 'score': 0.39}, {'connected_gene': 'TMEM184A', 'score': 0.37}]