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
ENST00000341861 [[65734800, 65739344], [65743336, 65743448], [65744297, 65744440], [65746600, 65746753], [65748562, 65748709], [65756098, 65756244], [65759015, 65759151], [65759408, 65759561], [65766546, 65766626], [65771217, 65771377], [65772559, 65772737], [65773852, 65773953], [65777436, 65777498], [65780027, 65780156], [65782526, 65782637], [65790201, 65790370], [65792943, 65793117], [65799580, 65799693], [65804632, 65804902], [65807993, 65809611]] [[65739221, 65739344], [65743336, 65743448], [65744297, 65744440], [65746600, 65746753], [65748562, 65748709], [65756098, 65756244], [65759015, 65759151], [65759408, 65759561], [65766546, 65766626], [65771217, 65771377], [65772559, 65772737], [65773852, 65773953], [65777436, 65777498], [65780027, 65780156], [65782526, 65782637], [65790201, 65790370], [65792943, 65793117], [65799580, 65799693], [65804632, 65804902], [65807993, 65808030]]
ENST00000358939 [[65738954, 65739344], [65743336, 65743448], [65744297, 65744440], [65756098, 65756244], [65759015, 65759151], [65759408, 65759561], [65766546, 65766626], [65771217, 65771377], [65772559, 65772737], [65773852, 65773953], [65777436, 65777498], [65780027, 65780156], [65782526, 65782637], [65790201, 65790370], [65792943, 65793117], [65799580, 65799693], [65804632, 65804902], [65809823, 65810018]] [[65739221, 65739344], [65743336, 65743448], [65744297, 65744440], [65756098, 65756244], [65759015, 65759151], [65759408, 65759561], [65766546, 65766626], [65771217, 65771377], [65772559, 65772737], [65773852, 65773953], [65777436, 65777498], [65780027, 65780156], [65782526, 65782637], [65790201, 65790370], [65792943, 65793117], [65799580, 65799693], [65804632, 65804891]]
ENST00000300141 [[65738956, 65739344], [65743336, 65743448], [65744297, 65744440], [65746600, 65746753], [65748562, 65748709], [65756098, 65756244], [65759015, 65759151], [65759408, 65759561], [65766546, 65766626], [65771217, 65771377], [65772559, 65772737], [65773852, 65773953], [65777436, 65777498], [65780027, 65780156], [65782526, 65782637], [65790201, 65790370], [65792943, 65793117], [65799580, 65799693], [65804632, 65804902], [65809823, 65810037]] [[65739221, 65739344], [65743336, 65743448], [65744297, 65744440], [65746600, 65746753], [65748562, 65748709], [65756098, 65756244], [65759015, 65759151], [65759408, 65759561], [65766546, 65766626], [65771217, 65771377], [65772559, 65772737], [65773852, 65773953], [65777436, 65777498], [65780027, 65780156], [65782526, 65782637], [65790201, 65790370], [65792943, 65793117], [65799580, 65799693], [65804632, 65804891]]
ENST00000321147 [[65738958, 65739344], [65743336, 65743448], [65744297, 65744440], [65748562, 65748709], [65756098, 65756244], [65759015, 65759151], [65759408, 65759561], [65766546, 65766626], [65771217, 65771377], [65772559, 65772737], [65773852, 65773953], [65777436, 65777498], [65780027, 65780156], [65782526, 65782637], [65790201, 65790370], [65792943, 65793117], [65799580, 65799693], [65804632, 65804902], [65807993, 65808129], [65809823, 65810042]] [[65739221, 65739344], [65743336, 65743448], [65744297, 65744440], [65748562, 65748709], [65756098, 65756244], [65759015, 65759151], [65759408, 65759561], [65766546, 65766626], [65771217, 65771377], [65772559, 65772737], [65773852, 65773953], [65777436, 65777498], [65780027, 65780156], [65782526, 65782637], [65790201, 65790370], [65792943, 65793117], [65799580, 65799693], [65804632, 65804902], [65807993, 65808030]]
ENST00000321118 [[65738974, 65739344], [65743336, 65743448], [65744297, 65744440], [65746600, 65746753], [65756098, 65756244], [65759015, 65759151], [65759408, 65759561], [65766546, 65766626], [65771217, 65771377], [65772559, 65772737], [65773852, 65773953], [65777436, 65777498], [65780027, 65780156], [65782526, 65782637], [65790201, 65790370], [65792943, 65793117], [65799580, 65799693], [65804632, 65804902], [65807993, 65808129], [65809823, 65810026]] [[65739221, 65739344], [65743336, 65743448], [65744297, 65744440], [65746600, 65746753], [65756098, 65756244], [65759015, 65759151], [65759408, 65759561], [65766546, 65766626], [65771217, 65771377], [65772559, 65772737], [65773852, 65773953], [65777436, 65777498], [65780027, 65780156], [65782526, 65782637], [65790201, 65790370], [65792943, 65793117], [65799580, 65799693], [65804632, 65804902], [65807993, 65808030]]
ENST00000339244 [[65738974, 65739344], [65743336, 65743448], [65744297, 65744440], [65746600, 65746753], [65748562, 65748709], [65756098, 65756244], [65759015, 65759151], [65759408, 65759561], [65777436, 65777498], [65780027, 65780156], [65782526, 65782637], [65790201, 65790370], [65792943, 65793117], [65799580, 65799693], [65804632, 65804902], [65807993, 65808129], [65809823, 65810026]] [[65739221, 65739344], [65743336, 65743448], [65744297, 65744440], [65746600, 65746753], [65748562, 65748709], [65756098, 65756244], [65759015, 65759151], [65759408, 65759561], [65777436, 65777498], [65780027, 65780156], [65782526, 65782637], [65790201, 65790370], [65792943, 65793117], [65799580, 65799693], [65804632, 65804902], [65807993, 65808030]]
ENST00000559233 [[65739077, 65739344], [65743336, 65743448], [65744297, 65744440], [65746600, 65746753], [65748562, 65748709], [65756098, 65756244], [65759015, 65759151], [65759408, 65759561], [65766546, 65766626], [65771217, 65771377], [65772559, 65772737], [65773852, 65773953], [65777436, 65777498], [65780027, 65780156], [65782526, 65782637], [65790201, 65790370], [65792943, 65793117], [65799580, 65799693], [65804632, 65804902], [65807993, 65808142]] [[65739221, 65739344], [65743336, 65743448], [65744297, 65744440], [65746600, 65746753], [65748562, 65748709], [65756098, 65756244], [65759015, 65759151], [65759408, 65759561], [65766546, 65766626], [65771217, 65771377], [65772559, 65772737], [65773852, 65773953], [65777436, 65777498], [65780027, 65780156], [65782526, 65782637], [65790201, 65790370], [65792943, 65793117], [65799580, 65799693], [65804632, 65804902], [65807993, 65808030]]
ENST00000395652 [[65739078, 65739344], [65743336, 65743448], [65744297, 65744440], [65746600, 65746753], [65748049, 65748179], [65748562, 65748709], [65756098, 65756244], [65759015, 65759151], [65759408, 65759561], [65766546, 65766626], [65771217, 65771377], [65772559, 65772737], [65773852, 65773953], [65777436, 65777498], [65780027, 65780156], [65782526, 65782637], [65790201, 65790370], [65792943, 65793117], [65799580, 65799693], [65804632, 65804902], [65807993, 65808142]] [[65748155, 65748179], [65748562, 65748709], [65756098, 65756244], [65759015, 65759151], [65759408, 65759561], [65766546, 65766626], [65771217, 65771377], [65772559, 65772737], [65773852, 65773953], [65777436, 65777498], [65780027, 65780156], [65782526, 65782637], [65790201, 65790370], [65792943, 65793117], [65799580, 65799693], [65804632, 65804902], [65807993, 65808030]]
ENST00000559526 [[65790254, 65790370], [65799580, 65799693], [65804632, 65804902], [65809823, 65810001]] [[65790254, 65790370], [65799580, 65799693], [65804632, 65804891]]
ENST00000558529 [[65790288, 65790370], [65792943, 65793117], [65799580, 65799693], [65804632, 65805169]] [[65790288, 65790370], [65792943, 65793117], [65799580, 65799693], [65804632, 65804921]]
ENST00000558786 [[65738974, 65739344], [65743336, 65743448], [65744297, 65744440], [65746600, 65746753], [65756098, 65756244], [65759015, 65759151], [65759408, 65759530]] [[65739221, 65739344], [65743336, 65743448], [65744297, 65744440], [65746600, 65746753], [65756098, 65756244], [65759015, 65759151], [65759408, 65759530]]
ENST00000560048 [[65743076, 65743448], [65744297, 65744440], [65746600, 65746753], [65747991, 65748029]] None
ENST00000558559 [[65744381, 65744440], [65746600, 65746753], [65748562, 65748709], [65756098, 65756244], [65759015, 65759151], [65759408, 65759561], [65777436, 65777498], [65780027, 65780156], [65782526, 65782624]] [[65744381, 65744440], [65746600, 65746753], [65748562, 65748709], [65756098, 65756244], [65759015, 65759151], [65759408, 65759561], [65777436, 65777498], [65780027, 65780156], [65782526, 65782624]]
ENST00000560597 [[65747731, 65748179], [65748562, 65748709], [65756098, 65756183]] None
ENST00000558363 [[65748624, 65748709], [65759015, 65759151], [65759408, 65759493]] None
ENST00000560436 [[65799640, 65799693], [65804632, 65804902], [65807993, 65808129], [65809543, 65809676]] [[65799640, 65799693], [65804632, 65804902], [65807993, 65808030]]
ENST00000560194 [[65804298, 65804446], [65804632, 65804902], [65809823, 65809966]] None
ENST00000560665 [[65804639, 65804902], [65809718, 65810019]] [[65804639, 65804891]]
NR_135486 [[65734800, 65739344], [65743336, 65743448], [65744297, 65744440], [65746600, 65746753], [65748049, 65748179], [65748562, 65748709], [65756098, 65756244], [65759015, 65759151], [65759408, 65759561], [65766546, 65766626], [65771217, 65771377], [65772559, 65772737], [65773852, 65773953], [65777436, 65777498], [65780027, 65780156], [65782526, 65782637], [65790201, 65790370], [65792943, 65793117], [65799580, 65799693], [65804632, 65804902], [65807993, 65808129], [65809543, 65809676]] None
NM_197960 [[65734800, 65739344], [65743336, 65743448], [65744297, 65744440], [65746600, 65746753], [65748562, 65748709], [65756098, 65756244], [65759015, 65759151], [65759408, 65759561], [65766546, 65766626], [65771217, 65771377], [65772559, 65772737], [65773852, 65773953], [65777436, 65777498], [65780027, 65780156], [65782526, 65782637], [65790201, 65790370], [65792943, 65793117], [65799580, 65799693], [65804632, 65804902], [65807993, 65808129], [65809543, 65809676]] [[65739221, 65739344], [65743336, 65743448], [65744297, 65744440], [65746600, 65746753], [65748562, 65748709], [65756098, 65756244], [65759015, 65759151], [65759408, 65759561], [65766546, 65766626], [65771217, 65771377], [65772559, 65772737], [65773852, 65773953], [65777436, 65777498], [65780027, 65780156], [65782526, 65782637], [65790201, 65790370], [65792943, 65793117], [65799580, 65799693], [65804632, 65804902], [65807993, 65808030]]
NM_001320876 [[65734800, 65739344], [65743336, 65743448], [65744297, 65744440], [65746600, 65746753], [65748562, 65748709], [65756098, 65756244], [65759015, 65759151], [65759408, 65759561], [65766546, 65766626], [65771217, 65771377], [65772559, 65772737], [65773852, 65773953], [65777436, 65777498], [65780027, 65780156], [65782526, 65782637], [65790201, 65790370], [65792943, 65793117], [65799580, 65799693], [65804632, 65804902], [65809718, 65810051]] [[65739221, 65739344], [65743336, 65743448], [65744297, 65744440], [65746600, 65746753], [65748562, 65748709], [65756098, 65756244], [65759015, 65759151], [65759408, 65759561], [65766546, 65766626], [65771217, 65771377], [65772559, 65772737], [65773852, 65773953], [65777436, 65777498], [65780027, 65780156], [65782526, 65782637], [65790201, 65790370], [65792943, 65793117], [65799580, 65799693], [65804632, 65804891]]
NM_001320875 [[65734800, 65739344], [65743336, 65743448], [65744297, 65744440], [65746600, 65746753], [65748562, 65748709], [65756098, 65756244], [65759015, 65759151], [65759408, 65759561], [65766546, 65766626], [65771217, 65771377], [65772559, 65772737], [65773852, 65773953], [65777436, 65777498], [65780027, 65780156], [65782526, 65782637], [65790201, 65790370], [65792943, 65793117], [65799580, 65799693], [65804632, 65804902], [65807993, 65808129], [65809823, 65810051]] [[65739221, 65739344], [65743336, 65743448], [65744297, 65744440], [65746600, 65746753], [65748562, 65748709], [65756098, 65756244], [65759015, 65759151], [65759408, 65759561], [65766546, 65766626], [65771217, 65771377], [65772559, 65772737], [65773852, 65773953], [65777436, 65777498], [65780027, 65780156], [65782526, 65782637], [65790201, 65790370], [65792943, 65793117], [65799580, 65799693], [65804632, 65804902], [65807993, 65808030]]
NM_197961 [[65734800, 65739344], [65743336, 65743448], [65744297, 65744440], [65748562, 65748709], [65756098, 65756244], [65759015, 65759151], [65759408, 65759561], [65766546, 65766626], [65771217, 65771377], [65772559, 65772737], [65773852, 65773953], [65777436, 65777498], [65780027, 65780156], [65782526, 65782637], [65790201, 65790370], [65792943, 65793117], [65799580, 65799693], [65804632, 65804902], [65807993, 65808129], [65809823, 65810051]] [[65739221, 65739344], [65743336, 65743448], [65744297, 65744440], [65748562, 65748709], [65756098, 65756244], [65759015, 65759151], [65759408, 65759561], [65766546, 65766626], [65771217, 65771377], [65772559, 65772737], [65773852, 65773953], [65777436, 65777498], [65780027, 65780156], [65782526, 65782637], [65790201, 65790370], [65792943, 65793117], [65799580, 65799693], [65804632, 65804902], [65807993, 65808030]]
NR_135485 [[65734800, 65739344], [65743336, 65743448], [65744297, 65744440], [65746600, 65746753], [65747991, 65748179], [65748562, 65748709], [65756098, 65756244], [65759015, 65759151], [65759408, 65759561], [65766546, 65766626], [65771217, 65771377], [65772559, 65772737], [65773852, 65773953], [65777436, 65777498], [65780027, 65780156], [65782526, 65782637], [65790201, 65790370], [65792943, 65793117], [65799580, 65799693], [65804632, 65804902], [65809823, 65810051]] None
NM_130434 [[65734800, 65739344], [65743336, 65743448], [65744297, 65744440], [65746600, 65746753], [65748562, 65748709], [65756098, 65756244], [65759015, 65759151], [65759408, 65759561], [65766546, 65766626], [65771217, 65771377], [65772559, 65772737], [65773852, 65773953], [65777436, 65777498], [65780027, 65780156], [65782526, 65782637], [65790201, 65790370], [65792943, 65793117], [65799580, 65799693], [65804632, 65804902], [65809823, 65810051]] [[65739221, 65739344], [65743336, 65743448], [65744297, 65744440], [65746600, 65746753], [65748562, 65748709], [65756098, 65756244], [65759015, 65759151], [65759408, 65759561], [65766546, 65766626], [65771217, 65771377], [65772559, 65772737], [65773852, 65773953], [65777436, 65777498], [65780027, 65780156], [65782526, 65782637], [65790201, 65790370], [65792943, 65793117], [65799580, 65799693], [65804632, 65804891]]
NM_017743 [[65734800, 65739344], [65743336, 65743448], [65744297, 65744440], [65756098, 65756244], [65759015, 65759151], [65759408, 65759561], [65766546, 65766626], [65771217, 65771377], [65772559, 65772737], [65773852, 65773953], [65777436, 65777498], [65780027, 65780156], [65782526, 65782637], [65790201, 65790370], [65792943, 65793117], [65799580, 65799693], [65804632, 65804902], [65809823, 65810051]] [[65739221, 65739344], [65743336, 65743448], [65744297, 65744440], [65756098, 65756244], [65759015, 65759151], [65759408, 65759561], [65766546, 65766626], [65771217, 65771377], [65772559, 65772737], [65773852, 65773953], [65777436, 65777498], [65780027, 65780156], [65782526, 65782637], [65790201, 65790370], [65792943, 65793117], [65799580, 65799693], [65804632, 65804891]]
Promoter
Chrom Start End Description
chr15 65809581 65809617 CAGE_peak_4_at_DPP8_5end
chr15 65809625 65809634 CAGE_peak_7_at_DPP8_5end
chr15 65809966 65809980 CAGE_peak_3_at_DPP8_5end
chr15 65809991 65810035 CAGE_peak_1_at_DPP8_5end
chr15 65810043 65810058 CAGE_peak_2_at_DPP8_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr15 GH15I065408 65408141 65419121 1.33 [{'connected_gene': 'INTS14', 'score': 26.7}, {'connected_gene': 'ZNF609', 'score': 20.17}, {'connected_gene': 'ENSG00000260773', 'score': 19.68}, {'connected_gene': 'SLC24A1', 'score': 14.98}, {'connected_gene': 'PARP16', 'score': 13.12}, {'connected_gene': 'PDCD7', 'score': 12.85}, {'connected_gene': 'ENSG00000264937', 'score': 11.83}, {'connected_gene': 'IGDCC3', 'score': 11.67}, {'connected_gene': 'IGDCC4', 'score': 10.4}, {'connected_gene': 'DPP8', 'score': 4.82}, {'connected_gene': 'GC15P069487', 'score': 0.25}, {'connected_gene': 'GC15P069486', 'score': 0.25}]
chr15 GH15I065515 65515017 65518584 2.12 [{'connected_gene': 'DPP8', 'score': 550.77}, {'connected_gene': 'INTS14', 'score': 50.08}, {'connected_gene': 'ENSG00000260773', 'score': 48.35}, {'connected_gene': 'PARP16', 'score': 40.74}, {'connected_gene': 'SNORD16', 'score': 30.2}, {'connected_gene': 'SLC24A1', 'score': 29.15}, {'connected_gene': 'ENSG00000264937', 'score': 27.11}, {'connected_gene': 'MTFMT', 'score': 21.53}, {'connected_gene': 'PDCD7', 'score': 18.06}, {'connected_gene': 'RPL35AP32', 'score': 13.65}, {'connected_gene': 'ENSG00000259635', 'score': 13.1}, {'connected_gene': 'TIPIN', 'score': 12.65}, {'connected_gene': 'RNU6-19P', 'score': 11.42}, {'connected_gene': 'ZWILCH', 'score': 10.55}, {'connected_gene': 'DENND4A', 'score': 10.02}, {'connected_gene': 'ENSG00000265967', 'score': 9.78}, {'connected_gene': 'GC15M065504', 'score': 0.77}]
chr15 GH15I065827 65827001 65829932 1.38 [{'connected_gene': 'DENND4A', 'score': 19.94}, {'connected_gene': 'RAB11A', 'score': 11.55}, {'connected_gene': 'IGDCC4', 'score': 4.64}, {'connected_gene': 'DPP8', 'score': 3.77}, {'connected_gene': 'DIS3L', 'score': 1.2}, {'connected_gene': 'HNRNPA1P44', 'score': 0.39}, {'connected_gene': 'ENSG00000283249', 'score': 0.37}, {'connected_gene': 'LOC105370866', 'score': 0.28}]
chr15 GH15I065817 65817787 65822478 1.67 [{'connected_gene': 'DENND4A', 'score': 30.38}, {'connected_gene': 'ZWILCH', 'score': 25.43}, {'connected_gene': 'INTS14', 'score': 25.21}, {'connected_gene': 'PDCD7', 'score': 24.35}, {'connected_gene': 'SLC24A1', 'score': 23.24}, {'connected_gene': 'ENSG00000260773', 'score': 20.54}, {'connected_gene': 'TIPIN', 'score': 13.53}, {'connected_gene': 'MTFMT', 'score': 12.34}, {'connected_gene': 'RAB11A', 'score': 11.12}, {'connected_gene': 'SNORD13E', 'score': 11.02}, {'connected_gene': 'PARP16', 'score': 10.05}, {'connected_gene': 'CILP', 'score': 9.76}, {'connected_gene': 'IGDCC4', 'score': 5.77}, {'connected_gene': 'DPP8', 'score': 4.81}, {'connected_gene': 'HNRNPA1P44', 'score': 0.77}, {'connected_gene': 'ENSG00000283249', 'score': 0.34}, {'connected_gene': 'LOC105370866', 'score': 0.31}]
chr15 GH15I065981 65981801 65982711 1.26 [{'connected_gene': 'PDCD7', 'score': 13.82}, {'connected_gene': 'ENSG00000260773', 'score': 10.24}, {'connected_gene': 'DPP8', 'score': 9.86}, {'connected_gene': 'LOC105370867', 'score': 0.28}, {'connected_gene': 'GC15P069445', 'score': 0.16}, {'connected_gene': 'MEGF11', 'score': 0.06}]
chr15 GH15I065512 65512323 65514201 0.91 [{'connected_gene': 'GC15M065504', 'score': 550.77}, {'connected_gene': 'ENSG00000260773', 'score': 14.82}, {'connected_gene': 'INTS14', 'score': 10.82}, {'connected_gene': 'PDCD7', 'score': 10.31}, {'connected_gene': 'SLC24A1', 'score': 8.58}, {'connected_gene': 'DENND4A', 'score': 7.8}, {'connected_gene': 'DPP8', 'score': 7.71}, {'connected_gene': 'ENSG00000252217', 'score': 0.39}]
chr15 GH15I065477 65477083 65477232 0.31 [{'connected_gene': 'GC15P069493', 'score': 550.77}, {'connected_gene': 'ENSG00000259232', 'score': 550.77}, {'connected_gene': 'ENSG00000252217', 'score': 12.21}, {'connected_gene': 'DPP8', 'score': 12.16}, {'connected_gene': 'RNU6-19P', 'score': 9.95}, {'connected_gene': 'DENND4A', 'score': 7.71}]

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