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
ENST00000433100 [[67776047, 67776162], [67782766, 67782929], [67785996, 67786106], [67786241, 67786362], [67786638, 67786724], [67787183, 67787265], [67788953, 67789339], [67790062, 67790229], [67793476, 67793576], [67795216, 67796163]] None
ENST00000539229 [[67776047, 67776162], [67782766, 67782929], [67785996, 67786065], [67786067, 67786106], [67786241, 67786362], [67786638, 67786724], [67787183, 67787265], [67788953, 67789291], [67789293, 67789339], [67790062, 67790229], [67793476, 67793576], [67795216, 67795377], [67795379, 67796741]] [[67782767, 67782929], [67785996, 67786065], [67786067, 67786106], [67786241, 67786362], [67786638, 67786724], [67787183, 67787265], [67788953, 67789291], [67789293, 67789339], [67790062, 67790229], [67793476, 67793576], [67795216, 67795377], [67795379, 67795406]]
ENST00000316367 [[67777789, 67777862], [67782766, 67782929], [67785996, 67786065], [67786067, 67786106], [67786241, 67786362], [67786638, 67786724], [67787183, 67787265], [67788953, 67788995], [67795518, 67795607]] [[67782767, 67782929], [67785996, 67786065], [67786067, 67786106], [67786241, 67786362], [67786638, 67786724], [67787183, 67787265], [67788953, 67788995], [67795518, 67795607]]
ENST00000007633 [[67777789, 67777862], [67782766, 67782929], [67785996, 67786065], [67786067, 67786106], [67786241, 67786362], [67786638, 67786724], [67787183, 67787265], [67788953, 67789291], [67789293, 67789339], [67790062, 67790229], [67793476, 67793576], [67795216, 67795377], [67795379, 67796741]] [[67782767, 67782929], [67785996, 67786065], [67786067, 67786106], [67786241, 67786362], [67786638, 67786724], [67787183, 67787265], [67788953, 67789291], [67789293, 67789339], [67790062, 67790229], [67793476, 67793576], [67795216, 67795377], [67795379, 67795406]]
ENST00000342456 [[67777789, 67777862], [67782766, 67782929], [67786241, 67786362], [67786638, 67786724], [67787183, 67787265], [67788953, 67789291], [67789293, 67789339], [67790062, 67790229], [67793476, 67793576], [67795216, 67795377], [67795379, 67796741]] [[67782767, 67782929], [67786241, 67786362], [67786638, 67786724], [67787183, 67787265], [67788953, 67789291], [67789293, 67789339], [67790062, 67790229], [67793476, 67793576], [67795216, 67795377], [67795379, 67795406]]
ENST00000529232 [[67777796, 67777862], [67782766, 67786106], [67786241, 67786362], [67786638, 67786724], [67787183, 67787265], [67788953, 67789339], [67790062, 67790229], [67793476, 67793576], [67795216, 67796744]] None
ENST00000531459 [[67777812, 67777862], [67782766, 67782929], [67785996, 67786106], [67786241, 67786362], [67786638, 67786724], [67788953, 67789339], [67790062, 67790229], [67793476, 67793576], [67795216, 67795624]] None
ENST00000434449 [[67777821, 67777862], [67782766, 67782929], [67785996, 67786106], [67786241, 67786362], [67786638, 67786724], [67787183, 67787265], [67788953, 67789339], [67790062, 67790229], [67793476, 67793576], [67795216, 67796743]] None
ENST00000530046 [[67777836, 67777862], [67782766, 67782929], [67786241, 67786362], [67786638, 67786724], [67787183, 67787265], [67788953, 67789339], [67790062, 67790229], [67793476, 67793576], [67795216, 67796161]] None
ENST00000525518 [[67782437, 67782545], [67782766, 67782929], [67785996, 67786106], [67786241, 67786362], [67786638, 67786724], [67787183, 67787265], [67788953, 67788991]] None
ENST00000527179 [[67782763, 67782929], [67785996, 67786106], [67786241, 67786362], [67786638, 67786724], [67789222, 67789339], [67790062, 67790229], [67793476, 67793576], [67795216, 67795577]] None
ENST00000526609 [[67786050, 67786106], [67786241, 67786362], [67786534, 67786724], [67787183, 67787265], [67788953, 67789320]] None
ENST00000527514 [[67789311, 67789339], [67790062, 67790229], [67791675, 67792083]] None
NM_001161473 [[67776016, 67776162], [67782766, 67782929], [67785996, 67786063], [67786065, 67786106], [67786241, 67786362], [67786638, 67786724], [67787183, 67787265], [67788953, 67789292], [67789294, 67789339], [67790062, 67790229], [67793476, 67793576], [67795216, 67795378], [67795380, 67796749]] [[67782767, 67782929], [67785996, 67786063], [67786065, 67786106], [67786241, 67786362], [67786638, 67786724], [67787183, 67787265], [67788953, 67789292], [67789294, 67789339], [67790062, 67790229], [67793476, 67793576], [67795216, 67795378], [67795380, 67795406]]
NM_001030010 [[67777774, 67777862], [67782766, 67782929], [67786241, 67786362], [67786638, 67786724], [67787183, 67787265], [67788953, 67789292], [67789294, 67789339], [67790062, 67790229], [67793476, 67793576], [67795216, 67795378], [67795380, 67796749]] [[67782767, 67782929], [67786241, 67786362], [67786638, 67786724], [67787183, 67787265], [67788953, 67789292], [67789294, 67789339], [67790062, 67790229], [67793476, 67793576], [67795216, 67795378], [67795380, 67795406]]
NM_001290058 [[67777774, 67777862], [67782766, 67782929], [67785996, 67786063], [67786065, 67786106], [67786241, 67786362], [67786638, 67786724], [67789222, 67789292], [67789294, 67789339], [67790062, 67790229], [67793476, 67793576], [67795216, 67795378], [67795380, 67796749]] [[67782767, 67782929], [67785996, 67786063], [67786065, 67786106], [67786241, 67786362], [67786638, 67786724], [67789222, 67789292], [67789294, 67789339], [67790062, 67790229], [67793476, 67793576], [67795216, 67795378], [67795380, 67795406]]
NM_001290059 [[67777774, 67777862], [67782766, 67782929], [67785996, 67786106], [67786241, 67786362], [67786638, 67786724], [67788953, 67789292], [67789294, 67789339], [67790062, 67790229], [67793476, 67793576], [67795216, 67795378], [67795380, 67796749]] [[67788979, 67789292], [67789294, 67789339], [67790062, 67790229], [67793476, 67793576], [67795216, 67795378], [67795380, 67795406]]
NM_000694 [[67777774, 67777862], [67782766, 67782929], [67785996, 67786063], [67786065, 67786106], [67786241, 67786362], [67786638, 67786724], [67787183, 67787265], [67788953, 67789292], [67789294, 67789339], [67790062, 67790229], [67793476, 67793576], [67795216, 67795378], [67795380, 67796749]] [[67782767, 67782929], [67785996, 67786063], [67786065, 67786106], [67786241, 67786362], [67786638, 67786724], [67787183, 67787265], [67788953, 67789292], [67789294, 67789339], [67790062, 67790229], [67793476, 67793576], [67795216, 67795378], [67795380, 67795406]]
Promoter
Chrom Start End Description
chr11 67776012 67776048 CAGE_peak_3_at_ALDH3B1_5end
chr11 67776077 67776088 CAGE_peak_5_at_ALDH3B1_5end
chr11 67777751 67777808 CAGE_peak_1_at_ALDH3B1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I068807 68807314 68807875 0.43 [{'connected_gene': 'TESMIN', 'score': 10.91}, {'connected_gene': 'ALDH3B1', 'score': 4.34}, {'connected_gene': 'GC11P068804', 'score': 0.77}, {'connected_gene': 'CPT1A', 'score': 0.28}]
chr11 GH11I068002 68002100 68005240 1.97 [{'connected_gene': 'UNC93B1', 'score': 563.35}, {'connected_gene': 'NDUFS8', 'score': 10.63}, {'connected_gene': 'ENSG00000255031', 'score': 8.97}, {'connected_gene': 'ALDH3B1', 'score': 8.7}, {'connected_gene': 'MRPL21', 'score': 5.51}, {'connected_gene': 'GC11M068005', 'score': 0.44}, {'connected_gene': 'OR7E1P', 'score': 0.31}]
chr11 GH11I067990 67990081 67992373 0.49 [{'connected_gene': 'UNC93B1', 'score': 11.96}, {'connected_gene': 'ALDH3B1', 'score': 8.28}, {'connected_gene': 'OR7E1P', 'score': 0.37}]
chr11 GH11I068352 68352525 68355854 1.5 [{'connected_gene': 'C11orf24', 'score': 13.81}, {'connected_gene': 'LRP5', 'score': 8.34}, {'connected_gene': 'ALDH3B1', 'score': 1.98}, {'connected_gene': 'GC11P068379', 'score': 0.34}]
chr11 GH11I067993 67993990 67994139 0.64 [{'connected_gene': 'ALDH3B1', 'score': 8.32}, {'connected_gene': 'UNC93B1', 'score': 0.39}, {'connected_gene': 'OR7E1P', 'score': 0.37}]
chr11 GH11I068008 68008003 68015658 2.25 [{'connected_gene': 'ALDH3B1', 'score': 574.34}, {'connected_gene': 'GC11M068005', 'score': 550.77}, {'connected_gene': 'LOC105369361', 'score': 14.05}, {'connected_gene': 'NDUFS8', 'score': 13.25}, {'connected_gene': 'ENSG00000255031', 'score': 11.72}, {'connected_gene': 'UNC93B1', 'score': 5.11}, {'connected_gene': 'FAM86C2P', 'score': 4.02}]
chr11 GH11I068016 68016185 68018457 1.3 [{'connected_gene': 'ALDH3B1', 'score': 27.0}, {'connected_gene': 'LOC105369361', 'score': 14.39}, {'connected_gene': 'ENSG00000255031', 'score': 6.24}, {'connected_gene': 'GC11M068005', 'score': 0.44}]
chr11 GH11I068026 68026691 68034279 2.22 [{'connected_gene': 'LOC105369361', 'score': 565.69}, {'connected_gene': 'NDUFS8', 'score': 558.95}, {'connected_gene': 'ALDH3B1', 'score': 24.71}, {'connected_gene': 'PPP6R3', 'score': 24.19}, {'connected_gene': 'IGHMBP2', 'score': 12.44}, {'connected_gene': 'KDM2A', 'score': 11.65}, {'connected_gene': 'LOC105369362', 'score': 9.96}, {'connected_gene': 'TCIRG1', 'score': 4.96}, {'connected_gene': 'MIR4691', 'score': 0.77}, {'connected_gene': 'MIR7113', 'score': 0.77}, {'connected_gene': 'GC11M068005', 'score': 0.37}]
chr11 GH11I068025 68025173 68025322 0.49 [{'connected_gene': 'LOC105369361', 'score': 0.44}, {'connected_gene': 'GC11M068005', 'score': 0.39}, {'connected_gene': 'ALDH3B1', 'score': 0.37}]
chr11 GH11I068020 68020470 68021190 0.91 [{'connected_gene': 'LOC105369361', 'score': 15.51}, {'connected_gene': 'GC11M068005', 'score': 0.44}, {'connected_gene': 'ALDH3B1', 'score': 0.39}]
chr11 GH11I068021 68021412 68021541 0.85 [{'connected_gene': 'LOC105369361', 'score': 0.44}, {'connected_gene': 'GC11M068005', 'score': 0.39}, {'connected_gene': 'ALDH3B1', 'score': 0.39}]