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
ENST00000297477 [[1581870, 1586817], [1587377, 1587575], [1588154, 1588324], [1589489, 1589581], [1589758, 1589834], [1589940, 1590031], [1590452, 1590618], [1594901, 1595120], [1595749, 1596066]] [[1586587, 1586817], [1587377, 1587575], [1588154, 1588324], [1589489, 1589581], [1589758, 1589834], [1589940, 1590031], [1590452, 1590618], [1594901, 1595120]]
ENST00000449955 [[1583449, 1584117], [1584329, 1585885]] None
ENST00000319018 [[1583449, 1586817], [1587377, 1587575], [1588154, 1588324], [1589489, 1589581], [1589940, 1590031], [1590452, 1590618], [1594901, 1595120], [1595749, 1595819]] [[1589556, 1589581], [1589940, 1590031], [1590452, 1590618], [1594901, 1595120]]
ENST00000421996 [[1583465, 1583693], [1585234, 1585415]] None
ENST00000468535 [[1585864, 1586817], [1587377, 1587575], [1588154, 1589581], [1589758, 1589834], [1589940, 1590015], [1590452, 1590566]] None
ENST00000319010 [[1588284, 1588324], [1589182, 1589240], [1589489, 1589581], [1589758, 1589834], [1589940, 1590031], [1590452, 1590618], [1594901, 1595120], [1595749, 1595873]] [[1588284, 1588324], [1589182, 1589240], [1589489, 1589581], [1589758, 1589834], [1589940, 1590031], [1590452, 1590618], [1594901, 1595120]]
ENST00000474813 [[1589113, 1589581], [1589758, 1589834], [1589940, 1590031], [1590452, 1590618], [1594901, 1595108]] None
ENST00000421923 [[1589533, 1589581], [1589758, 1589834], [1589940, 1590015], [1590452, 1590618], [1594901, 1595120], [1600297, 1600457]] [[1590007, 1590015], [1590452, 1590618], [1594901, 1595120]]
ENST00000414730 [[1589783, 1589834], [1589940, 1590031], [1590452, 1590618], [1594901, 1595167]] [[1589783, 1589834], [1589940, 1590031], [1590452, 1590618], [1594901, 1595120]]
ENST00000441933 [[1589940, 1590031], [1590452, 1590618], [1594901, 1595120], [1595592, 1595756]] [[1589940, 1590031], [1590452, 1590618], [1594901, 1595120]]
ENST00000431208 [[1589997, 1590031], [1590452, 1590618], [1594901, 1595120], [1600297, 1600457]] [[1589997, 1590031], [1590452, 1590618], [1594901, 1595120]]
NM_001097620 [[1581870, 1586817], [1587377, 1587575], [1588154, 1588324], [1589489, 1589581], [1589758, 1589834], [1589940, 1590031], [1590452, 1590618], [1594901, 1595120], [1595749, 1596066]] [[1586587, 1586817], [1587377, 1587575], [1588154, 1588324], [1589489, 1589581], [1589758, 1589834], [1589940, 1590031], [1590452, 1590618], [1594901, 1595120]]
Promoter
Chrom Start End Description
chr7 1595028 1595061 CAGE_peak_7_at_TMEM184A_5end
chr7 1595107 1595147 CAGE_peak_4_at_TMEM184A_5end
chr7 1595771 1595797 CAGE_peak_6_at_TMEM184A_5end
chr7 1595804 1595828 CAGE_peak_3_at_TMEM184A_5end
chr7 1595831 1595858 CAGE_peak_1_at_TMEM184A_5end
chr7 1595871 1595896 CAGE_peak_5_at_TMEM184A_5end
chr7 1600419 1600429 CAGE_peak_11_at_TMEM184A_5end
chr7 1600433 1600475 CAGE_peak_2_at_TMEM184A_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr7 GH07I001529 1529572 1540052 2.61 [{'connected_gene': 'MAFK', 'score': 563.5}, {'connected_gene': 'LOC100128653', 'score': 550.77}, {'connected_gene': 'INTS1', 'score': 18.63}, {'connected_gene': 'TMEM184A', 'score': 16.66}, {'connected_gene': 'DNAAF5', 'score': 12.18}, {'connected_gene': 'SUN1', 'score': 11.92}, {'connected_gene': 'EIF3B', 'score': 10.45}, {'connected_gene': 'ZFAND2A', 'score': 7.06}, {'connected_gene': 'PSMG3-AS1', 'score': 6.2}]
chr7 GH07I001937 1937601 1942999 1.48 [{'connected_gene': 'MRM2', 'score': 10.06}, {'connected_gene': 'TMEM184A', 'score': 5.7}, {'connected_gene': 'ELFN1', 'score': 4.96}, {'connected_gene': 'GC07P001949', 'score': 0.44}, {'connected_gene': 'GC07M001848', 'score': 0.26}, {'connected_gene': 'MAD1L1', 'score': 0.06}]
chr7 GH07I001943 1943774 1944185 0.57 [{'connected_gene': 'MRM2', 'score': 10.02}, {'connected_gene': 'TMEM184A', 'score': 6.29}, {'connected_gene': 'SNX8', 'score': 4.21}, {'connected_gene': 'GC07P001949', 'score': 0.44}, {'connected_gene': 'GC07M001848', 'score': 0.26}, {'connected_gene': 'MAD1L1', 'score': 0.06}]
chr7 GH07I001519 1519719 1522164 1.68 [{'connected_gene': 'INTS1', 'score': 19.16}, {'connected_gene': 'TMEM184A', 'score': 3.1}, {'connected_gene': 'MAFK', 'score': 2.31}, {'connected_gene': 'PSMG3', 'score': 2.25}, {'connected_gene': 'C7orf50', 'score': 1.38}, {'connected_gene': 'ENSG00000231927', 'score': 0.39}]
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 GH07I001543 1543805 1547821 0.59 [{'connected_gene': 'INTS1', 'score': 17.61}, {'connected_gene': 'TMEM184A', 'score': 16.42}, {'connected_gene': 'PIR48186', 'score': 0.77}]
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 GH07I001562 1562085 1563309 0.52 [{'connected_gene': 'TMEM184A', 'score': 550.77}, {'connected_gene': 'PSMG3-AS1', 'score': 10.23}, {'connected_gene': 'PSMG3', 'score': 8.39}, {'connected_gene': 'NUDT1', 'score': 5.32}, {'connected_gene': 'GC07P001567', 'score': 0.77}]
chr7 GH07I001548 1548103 1549550 0.64 [{'connected_gene': 'TMEM184A', 'score': 17.89}, {'connected_gene': 'PIR48186', 'score': 0.44}]
chr7 GH07I001549 1549857 1551029 0.31 [{'connected_gene': 'TMEM184A', 'score': 17.33}, {'connected_gene': 'PIR48186', 'score': 0.44}]
chr7 GH07I001564 1564015 1565545 0.77 [{'connected_gene': 'PSMG3-AS1', 'score': 10.8}, {'connected_gene': 'PSMG3', 'score': 8.26}, {'connected_gene': 'TMEM184A', 'score': 0.77}, {'connected_gene': 'GC07P001567', 'score': 0.77}]
chr7 GH07I001100 1100043 1102212 1.29 [{'connected_gene': 'LOC101927021', 'score': 59.63}, {'connected_gene': 'ZFAND2A', 'score': 32.87}, {'connected_gene': 'LOC105375120', 'score': 32.27}, {'connected_gene': 'GPER1', 'score': 19.59}, {'connected_gene': 'C7orf50', 'score': 11.52}, {'connected_gene': 'MIR339', 'score': 11.36}, {'connected_gene': 'GPR146', 'score': 11.06}, {'connected_gene': 'ENSG00000225146', 'score': 11.03}, {'connected_gene': 'ADAP1', 'score': 10.8}, {'connected_gene': 'TMEM184A', 'score': 3.36}, {'connected_gene': 'SUN1', 'score': 1.74}, {'connected_gene': 'PIR59593', 'score': 0.44}, {'connected_gene': 'PIR42335', 'score': 0.44}]
chr7 GH07I001099 1099636 1099880 0.84 [{'connected_gene': 'LOC101927021', 'score': 32.47}, {'connected_gene': 'GPER1', 'score': 17.96}, {'connected_gene': 'C7orf50', 'score': 11.52}, {'connected_gene': 'MIR339', 'score': 11.36}, {'connected_gene': 'GPR146', 'score': 11.06}, {'connected_gene': 'ENSG00000225146', 'score': 11.03}, {'connected_gene': 'ADAP1', 'score': 10.8}, {'connected_gene': 'TMEM184A', 'score': 3.23}, {'connected_gene': 'SUN1', 'score': 1.29}, {'connected_gene': 'PIR59593', 'score': 0.44}, {'connected_gene': 'PIR42335', 'score': 0.44}]
chr7 GH07I001841 1841809 1845267 0.79 [{'connected_gene': 'MIR4655', 'score': 550.77}, {'connected_gene': 'EIF3B', 'score': 11.95}, {'connected_gene': 'CHST12', 'score': 10.95}, {'connected_gene': 'BRAT1', 'score': 10.31}, {'connected_gene': 'LOC100127955', 'score': 7.14}, {'connected_gene': 'NUDT1', 'score': 5.01}, {'connected_gene': 'MRM2', 'score': 4.84}, {'connected_gene': 'TMEM184A', 'score': 4.6}, {'connected_gene': 'IQCE', 'score': 4.37}, {'connected_gene': 'GC07M001835', 'score': 0.77}, {'connected_gene': 'MAD1L1', 'score': 0.05}]
chr7 GH07I001898 1898393 1900256 0.31 [{'connected_gene': 'GC07M001848', 'score': 550.77}, {'connected_gene': 'MRM2', 'score': 9.41}, {'connected_gene': 'NUDT1', 'score': 8.91}, {'connected_gene': 'TMEM184A', 'score': 6.11}, {'connected_gene': 'GC07P001949', 'score': 0.25}, {'connected_gene': 'MAD1L1', 'score': 0.06}]
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}]
chr7 GH07I001510 1510241 1511994 1.14 [{'connected_gene': 'ENSG00000231927', 'score': 550.77}, {'connected_gene': 'INTS1', 'score': 22.19}, {'connected_gene': 'TMEM184A', 'score': 12.17}, {'connected_gene': 'MRM2', 'score': 4.87}, {'connected_gene': 'MAFK', 'score': 0.37}]
chr7 GH07I001542 1542290 1543708 0.52 [{'connected_gene': 'PIR48186', 'score': 550.77}, {'connected_gene': 'INTS1', 'score': 16.6}, {'connected_gene': 'PSMG3-AS1', 'score': 6.29}, {'connected_gene': 'MAFK', 'score': 0.39}, {'connected_gene': 'TMEM184A', 'score': 0.37}]
chr7 GH07I001566 1565575 1565634 0.51 [{'connected_gene': 'GC07P001567', 'score': 550.77}, {'connected_gene': 'TMEM184A', 'score': 0.77}]

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