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
ENST00000009105 [[209757061, 209757277], [209768299, 209768420], [209773327, 209773456], [209776558, 209776633], [209778880, 209779019], [209779664, 209779788], [209781202, 209781278], [209782324, 209782437], [209783195, 209783274], [209784809, 209784897], [209785136, 209785561], [209786129, 209786257], [209786384, 209787283]] [[209768328, 209768420], [209773327, 209773456], [209776558, 209776633], [209778880, 209779019], [209779664, 209779788], [209781202, 209781278], [209782324, 209782437], [209783195, 209783274], [209784809, 209784897], [209785136, 209785561], [209786129, 209786220]]
ENST00000423146 [[209757073, 209757117], [209768299, 209768420], [209773327, 209773456], [209776558, 209776633], [209778880, 209779019], [209779664, 209779788], [209782324, 209782437], [209783195, 209783258]] [[209768328, 209768420], [209773327, 209773456], [209776558, 209776633], [209778880, 209779019], [209779664, 209779788], [209782324, 209782437], [209783195, 209783258]]
ENST00000361322 [[209757073, 209757117], [209768299, 209768420], [209773327, 209773456], [209776558, 209776633], [209778880, 209779019], [209779664, 209779788], [209781202, 209781278], [209782324, 209782437], [209783195, 209783274], [209784809, 209784897], [209785136, 209785561], [209786129, 209786257], [209786384, 209787283]] [[209768328, 209768420], [209773327, 209773456], [209776558, 209776633], [209778880, 209779019], [209779664, 209779788], [209781202, 209781278], [209782324, 209782437], [209783195, 209783274], [209784809, 209784897], [209785136, 209785561], [209786129, 209786220]]
ENST00000494990 [[209781138, 209781278], [209782324, 209782437], [209783195, 209783274], [209784809, 209784897], [209785136, 209785289]] None
NM_020439 [[209757044, 209757117], [209768299, 209768420], [209773327, 209773456], [209776558, 209776633], [209778880, 209779019], [209779664, 209779788], [209781202, 209781278], [209782324, 209782437], [209783195, 209783274], [209784809, 209784897], [209785136, 209785561], [209786129, 209786257], [209786384, 209787284]] [[209768328, 209768420], [209773327, 209773456], [209776558, 209776633], [209778880, 209779019], [209779664, 209779788], [209781202, 209781278], [209782324, 209782437], [209783195, 209783274], [209784809, 209784897], [209785136, 209785561], [209786129, 209786220]]
Promoter
Chrom Start End Description
chr1 209757051 209757069 CAGE_peak_1_at_CAMK1G_5end
chr1 209781012 209781050 CAGE_peak_2_at_CAMK1G_5end
chr1 209781070 209781082 CAGE_peak_4_at_CAMK1G_5end
chr1 209781095 209781106 CAGE_peak_5_at_CAMK1G_5end
chr1 209781107 209781115 CAGE_peak_3_at_CAMK1G_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I209634 209634516 209634564 0.2 [{'connected_gene': 'CAMK1G', 'score': 11.24}, {'connected_gene': 'HSD11B1', 'score': 11.01}, {'connected_gene': 'G0S2', 'score': 10.91}, {'connected_gene': 'ENSG00000224260', 'score': 10.86}, {'connected_gene': 'LOC101930114', 'score': 10.77}, {'connected_gene': 'MIR4260', 'score': 0.39}, {'connected_gene': 'LAMB3', 'score': 0.37}]
chr1 GH01I209608 209607056 209607205 0.4 [{'connected_gene': 'CAMK1G', 'score': 11.28}, {'connected_gene': 'ENSG00000224260', 'score': 10.72}, {'connected_gene': 'HSD11B1', 'score': 10.3}, {'connected_gene': 'MIR4260', 'score': 0.37}]
chr1 GH01I209583 209583509 209584446 1.39 [{'connected_gene': 'CAMK1G', 'score': 555.42}, {'connected_gene': 'MIR4260', 'score': 0.28}]
chr1 GH01I209667 209667819 209668262 0.95 [{'connected_gene': 'G0S2', 'score': 39.16}, {'connected_gene': 'CAMK1G', 'score': 10.68}, {'connected_gene': 'ENSG00000224260', 'score': 10.34}, {'connected_gene': 'LAMB3', 'score': 6.05}, {'connected_gene': 'TRAF3IP3', 'score': 4.48}, {'connected_gene': 'C1orf74', 'score': 2.13}, {'connected_gene': 'LOC101930114', 'score': 0.17}]
chr1 GH01I209641 209641133 209644528 1.12 [{'connected_gene': 'G0S2', 'score': 16.09}, {'connected_gene': 'LAMB3', 'score': 13.07}, {'connected_gene': 'HSD11B1', 'score': 11.12}, {'connected_gene': 'LOC101930114', 'score': 10.81}, {'connected_gene': 'CAMK1G', 'score': 10.74}, {'connected_gene': 'ENSG00000224260', 'score': 10.51}, {'connected_gene': 'MIR4260', 'score': 0.37}]
chr1 GH01I209633 209633399 209633612 0.79 [{'connected_gene': 'LAMB3', 'score': 19.88}, {'connected_gene': 'G0S2', 'score': 19.21}, {'connected_gene': 'CAMK1G', 'score': 11.25}, {'connected_gene': 'HSD11B1', 'score': 11.01}, {'connected_gene': 'ENSG00000224260', 'score': 10.86}, {'connected_gene': 'LOC101930114', 'score': 10.77}, {'connected_gene': 'MIR4260', 'score': 0.44}]
chr1 GH01I209644 209644708 209661280 2.3 [{'connected_gene': 'LAMB3', 'score': 590.96}, {'connected_gene': 'G0S2', 'score': 52.04}, {'connected_gene': 'HSD11B1', 'score': 12.49}, {'connected_gene': 'LOC101930114', 'score': 11.08}, {'connected_gene': 'CAMK1G', 'score': 10.62}, {'connected_gene': 'ENSG00000224260', 'score': 10.48}, {'connected_gene': 'MIR205HG', 'score': 9.28}, {'connected_gene': 'MIR205', 'score': 9.28}, {'connected_gene': 'IRF6', 'score': 6.36}, {'connected_gene': 'TRAF3IP3', 'score': 3.57}, {'connected_gene': 'C1orf74', 'score': 1.27}]
chr1 GH01I209585 209585601 209586088 0.69 [{'connected_gene': 'HSD11B1', 'score': 10.46}, {'connected_gene': 'ENSG00000224260', 'score': 6.17}, {'connected_gene': 'CAMK1G', 'score': 0.77}, {'connected_gene': 'MIR4260', 'score': 0.28}]
chr1 GH01I209587 209587876 209588025 0.85 [{'connected_gene': 'HSD11B1', 'score': 10.33}, {'connected_gene': 'CAMK1G', 'score': 0.77}, {'connected_gene': 'MIR4260', 'score': 0.28}]
chr1 GH01I209616 209616353 209616465 0.4 [{'connected_gene': 'HSD11B1', 'score': 10.34}, {'connected_gene': 'MIR4260', 'score': 0.44}, {'connected_gene': 'CAMK1G', 'score': 0.29}, {'connected_gene': 'LAMB3', 'score': 0.28}]
chr1 GH01I209619 209617336 209617485 0.4 [{'connected_gene': 'HSD11B1', 'score': 10.34}, {'connected_gene': 'MIR4260', 'score': 0.44}, {'connected_gene': 'CAMK1G', 'score': 0.29}, {'connected_gene': 'LAMB3', 'score': 0.28}]
chr1 GH01I209622 209616676 209616825 0.51 [{'connected_gene': 'HSD11B1', 'score': 10.34}, {'connected_gene': 'MIR4260', 'score': 0.44}, {'connected_gene': 'CAMK1G', 'score': 0.29}, {'connected_gene': 'LAMB3', 'score': 0.28}]
chr1 GH01I209617 209616876 209617025 0.51 [{'connected_gene': 'HSD11B1', 'score': 10.34}, {'connected_gene': 'MIR4260', 'score': 0.44}, {'connected_gene': 'CAMK1G', 'score': 0.29}, {'connected_gene': 'LAMB3', 'score': 0.28}]
chr1 GH01I209741 209741974 209743380 0.8 [{'connected_gene': 'ADORA2BP1', 'score': 550.77}, {'connected_gene': 'GC01P209745', 'score': 550.77}, {'connected_gene': 'HSD11B1', 'score': 10.93}, {'connected_gene': 'CAMK1G', 'score': 10.76}, {'connected_gene': 'ENSG00000224260', 'score': 10.57}, {'connected_gene': 'TRAF3IP3', 'score': 8.67}, {'connected_gene': 'LOC101930114', 'score': 0.39}]
chr1 GH01I209576 209576836 209576985 0.76 [{'connected_gene': 'LOC105372899', 'score': 0.44}, {'connected_gene': 'CAMK1G', 'score': 0.44}]
chr1 GH01I209569 209569556 209570000 0.82 [{'connected_gene': 'LOC105372899', 'score': 550.77}, {'connected_gene': 'CAMK1G', 'score': 0.39}]
chr1 GH01I209607 209607400 209608545 1.06 [{'connected_gene': 'ENSG00000224260', 'score': 17.34}, {'connected_gene': 'CAMK1G', 'score': 15.5}, {'connected_gene': 'HSD11B1', 'score': 10.83}, {'connected_gene': 'G0S2', 'score': 10.29}, {'connected_gene': 'LOC101930114', 'score': 10.2}, {'connected_gene': 'MIR4260', 'score': 0.37}]
chr1 GH01I209692 209692640 209693645 0.98 [{'connected_gene': 'ENSG00000224260', 'score': 11.08}, {'connected_gene': 'CAMK1G', 'score': 10.25}, {'connected_gene': 'HSD11B1', 'score': 0.44}, {'connected_gene': 'ADORA2BP1', 'score': 0.23}, {'connected_gene': 'LOC101930114', 'score': 0.21}]
chr1 GH01I209620 209620260 209622653 0.9 [{'connected_gene': 'ENSG00000224260', 'score': 10.49}, {'connected_gene': 'LAMB3', 'score': 4.79}, {'connected_gene': 'MIR4260', 'score': 0.77}, {'connected_gene': 'CAMK1G', 'score': 0.28}]
chr1 GH01I209593 209593088 209593574 0.23 [{'connected_gene': 'ENSG00000224260', 'score': 34.22}, {'connected_gene': 'HSD11B1', 'score': 10.32}, {'connected_gene': 'CAMK1G', 'score': 1.95}, {'connected_gene': 'MIR4260', 'score': 0.29}]
chr1 GH01I209599 209599651 209600938 0.31 [{'connected_gene': 'ENSG00000224260', 'score': 21.56}, {'connected_gene': 'HSD11B1', 'score': 10.89}, {'connected_gene': 'G0S2', 'score': 10.8}, {'connected_gene': 'LOC101930114', 'score': 10.72}, {'connected_gene': 'CAMK1G', 'score': 4.61}, {'connected_gene': 'MIR4260', 'score': 0.34}]
chr1 GH01I209621 209617896 209618045 0.63 [{'connected_gene': 'ENSG00000224260', 'score': 11.11}, {'connected_gene': 'HSD11B1', 'score': 10.65}, {'connected_gene': 'MIR4260', 'score': 0.44}, {'connected_gene': 'CAMK1G', 'score': 0.29}, {'connected_gene': 'LAMB3', 'score': 0.29}]
chr1 GH01I209609 209609976 209610025 0.66 [{'connected_gene': 'ENSG00000224260', 'score': 10.95}, {'connected_gene': 'HSD11B1', 'score': 10.42}, {'connected_gene': 'MIR4260', 'score': 0.39}, {'connected_gene': 'CAMK1G', 'score': 0.31}]
chr1 GH01I209618 209618297 209619537 0.51 [{'connected_gene': 'ENSG00000224260', 'score': 11.11}, {'connected_gene': 'HSD11B1', 'score': 10.65}, {'connected_gene': 'MIR4260', 'score': 0.77}, {'connected_gene': 'LAMB3', 'score': 0.29}, {'connected_gene': 'CAMK1G', 'score': 0.28}]
chr1 GH01I209567 209567836 209567985 0.38 [{'connected_gene': 'ENSG00000224260', 'score': 558.9}, {'connected_gene': 'LOC105372899', 'score': 550.77}, {'connected_gene': 'CAMK1G', 'score': 0.37}]
chr1 GH01I209688 209688276 209689820 0.94 [{'connected_gene': 'ENSG00000224260', 'score': 11.08}, {'connected_gene': 'LOC101930114', 'score': 10.7}, {'connected_gene': 'CAMK1G', 'score': 10.35}, {'connected_gene': 'DIEXF', 'score': 5.22}, {'connected_gene': 'HSD11B1', 'score': 0.77}, {'connected_gene': 'ADORA2BP1', 'score': 0.22}]