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
ENST00000264065 [[183580998, 183581210], [183581742, 183581799], [183582667, 183583017], [183584733, 183584896], [183586751, 183586802], [183593302, 183593385], [183593589, 183593721], [183594574, 183594668], [183595756, 183595834], [183597225, 183597269], [183600975, 183601113], [183605025, 183605115], [183605969, 183606083], [183608324, 183608439], [183616384, 183616512], [183616798, 183616915], [183619729, 183619831], [183621040, 183621196], [183622418, 183622552], [183623563, 183623617], [183623886, 183624034], [183627408, 183627528], [183640042, 183640147], [183641847, 183659191]] [[183582813, 183583017], [183584733, 183584896], [183586751, 183586802], [183593302, 183593385], [183593589, 183593721], [183594574, 183594668], [183595756, 183595834], [183597225, 183597269], [183600975, 183601113], [183605025, 183605115], [183605969, 183606083], [183608324, 183608439], [183616384, 183616512], [183616798, 183616915], [183619729, 183619831], [183621040, 183621196], [183622418, 183622552], [183623563, 183623617], [183623886, 183624034], [183627408, 183627528], [183640042, 183640147], [183641847, 183641859]]
ENST00000491074 [[183581022, 183581210], [183581742, 183581799], [183582667, 183583017], [183584733, 183584896], [183586751, 183586802], [183593302, 183593385], [183593589, 183593721], [183594574, 183594668], [183595756, 183595834], [183597225, 183597269], [183600975, 183601113], [183604271, 183605115], [183605969, 183606083], [183608324, 183608439], [183616384, 183616512], [183616798, 183616915], [183619429, 183619532], [183619729, 183619831], [183621040, 183621196], [183622418, 183622552], [183623563, 183623617], [183623886, 183624034], [183627408, 183627528], [183640042, 183640147], [183641847, 183642191]] None
ENST00000418559 [[183582813, 183583017], [183584733, 183584896], [183586751, 183586802], [183593302, 183593385], [183593589, 183593721], [183594574, 183594668], [183595756, 183595834], [183605025, 183605115], [183605969, 183606083], [183608324, 183608439], [183616384, 183616512], [183616798, 183616915], [183617275, 183617350], [183619729, 183619831], [183621040, 183621196], [183622418, 183622552], [183623563, 183623617], [183623886, 183624034], [183627408, 183627528], [183640042, 183640147], [183641847, 183642572]] [[183582813, 183583017], [183584733, 183584896], [183586751, 183586802], [183593302, 183593385], [183593589, 183593721], [183594574, 183594668], [183595756, 183595834], [183605025, 183605048]]
ENST00000469118 [[183581153, 183581210], [183581742, 183581799], [183582883, 183583017], [183584733, 183584896], [183586751, 183586802], [183593302, 183593385]] None
ENST00000537515 [[183582793, 183583017], [183584733, 183584896], [183586751, 183586802], [183593302, 183593385], [183593589, 183593721], [183594574, 183594668], [183595756, 183595834], [183597225, 183597269], [183600975, 183601113], [183604271, 183604933]] [[183582813, 183583017], [183584733, 183584896], [183586751, 183586802], [183593302, 183593385], [183593589, 183593721], [183594574, 183594668], [183595756, 183595834], [183597225, 183597269], [183600975, 183601113], [183604271, 183604283]]
ENST00000494462 [[183584806, 183584896], [183586751, 183586802], [183593302, 183593834]] None
ENST00000459930 [[183594561, 183594668], [183595756, 183595834], [183597225, 183597464]] None
ENST00000444005 [[183594574, 183594668], [183595756, 183595834], [183597225, 183597269], [183600975, 183601113], [183604271, 183604436], [183605025, 183605111]] [[183594574, 183594668], [183595756, 183595834], [183597225, 183597269], [183600975, 183601113], [183604271, 183604283]]
NR_073367 [[183580767, 183581210], [183581742, 183581799], [183582667, 183583017], [183584733, 183584896], [183586751, 183586802], [183593302, 183593385], [183593589, 183593721], [183594574, 183594668], [183595756, 183595834], [183605025, 183605115], [183605969, 183606083], [183608324, 183608439], [183616384, 183616512], [183616798, 183616915], [183617275, 183617350], [183619729, 183619831], [183621040, 183621196], [183622418, 183622552], [183623563, 183623617], [183623886, 183624034], [183627408, 183627528], [183640042, 183640147], [183641847, 183644752]] None
NM_001271581 [[183580767, 183581210], [183581742, 183581799], [183582667, 183583017], [183584733, 183584896], [183586751, 183586802], [183593302, 183593385], [183593589, 183593721], [183594574, 183594668], [183595756, 183595834], [183597225, 183597269], [183605025, 183605115], [183605969, 183606083], [183608324, 183608439], [183616384, 183616512], [183616798, 183616915], [183619729, 183619831], [183621040, 183621196], [183622418, 183622552], [183623563, 183623617], [183623886, 183624034], [183627408, 183627528], [183640042, 183640147], [183641847, 183644752]] [[183582813, 183583017], [183584733, 183584896], [183586751, 183586802], [183593302, 183593385], [183593589, 183593721], [183594574, 183594668], [183595756, 183595834], [183597225, 183597269], [183605025, 183605115], [183605969, 183606083], [183608324, 183608439], [183616384, 183616512], [183616798, 183616915], [183619729, 183619831], [183621040, 183621196], [183622418, 183622552], [183623563, 183623617], [183623886, 183624034], [183627408, 183627528], [183640042, 183640147], [183641847, 183641859]]
NM_018981 [[183580767, 183581210], [183581742, 183581799], [183582667, 183583017], [183584733, 183584896], [183586751, 183586802], [183593302, 183593385], [183593589, 183593721], [183594574, 183594668], [183595756, 183595834], [183597225, 183597269], [183600975, 183601113], [183605025, 183605115], [183605969, 183606083], [183608324, 183608439], [183616384, 183616512], [183616798, 183616915], [183619729, 183619831], [183621040, 183621196], [183622418, 183622552], [183623563, 183623617], [183623886, 183624034], [183627408, 183627528], [183640042, 183640147], [183641847, 183644752]] [[183582813, 183583017], [183584733, 183584896], [183586751, 183586802], [183593302, 183593385], [183593589, 183593721], [183594574, 183594668], [183595756, 183595834], [183597225, 183597269], [183600975, 183601113], [183605025, 183605115], [183605969, 183606083], [183608324, 183608439], [183616384, 183616512], [183616798, 183616915], [183619729, 183619831], [183621040, 183621196], [183622418, 183622552], [183623563, 183623617], [183623886, 183624034], [183627408, 183627528], [183640042, 183640147], [183641847, 183641859]]
NR_073365 [[183580767, 183581210], [183581742, 183581799], [183582667, 183583017], [183584733, 183584896], [183586751, 183586802], [183593302, 183593385], [183593589, 183593721], [183594574, 183594668], [183595756, 183595834], [183597225, 183597269], [183600975, 183601113], [183604271, 183605115], [183605969, 183606083], [183608324, 183608439], [183616384, 183616512], [183616798, 183616915], [183619729, 183619831], [183621040, 183621196], [183622418, 183622552], [183623563, 183623617], [183623886, 183624034], [183627408, 183627528], [183640042, 183640147], [183641847, 183644752]] None
NR_073366 [[183580767, 183581210], [183581742, 183581799], [183582667, 183583017], [183584733, 183584896], [183586751, 183586802], [183593302, 183593385], [183593589, 183593721], [183594574, 183594668], [183595756, 183595834], [183597225, 183597269], [183600975, 183601113], [183604271, 183605115], [183605969, 183606083], [183608324, 183608439], [183616384, 183616512], [183616798, 183616915], [183619429, 183619532], [183619729, 183619831], [183621040, 183621196], [183622418, 183622552], [183623563, 183623617], [183623886, 183624034], [183627408, 183627528], [183640042, 183640147], [183641847, 183644752]] None
Promoter
Chrom Start End Description
chr2 183580713 183580750 CAGE_peak_2_at_DNAJC10_5end
chr2 183580954 183581049 CAGE_peak_1_at_DNAJC10_5end
chr2 183581063 183581074 CAGE_peak_3_at_DNAJC10_5end
chr2 183582774 183582807 CAGE_peak_6_at_DNAJC10_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I182714 182714696 182718639 2.07 [{'connected_gene': 'DNAJC10', 'score': 550.77}, {'connected_gene': 'NCKAP1', 'score': 13.08}, {'connected_gene': 'NUP35', 'score': 10.54}, {'connected_gene': 'PDE1A', 'score': 10.03}, {'connected_gene': 'FRZB', 'score': 7.0}, {'connected_gene': 'GC02P182762', 'score': 0.25}]
chr2 GH02I182668 182668854 182669003 0.82 [{'connected_gene': 'DNAJC10', 'score': 12.14}, {'connected_gene': 'PIR54634', 'score': 0.39}, {'connected_gene': 'LOC101929976', 'score': 0.25}]
chr2 GH02I181952 181952392 181955807 1.52 [{'connected_gene': 'PPP1R1C', 'score': 550.77}, {'connected_gene': 'DNAJC10', 'score': 9.7}, {'connected_gene': 'SSFA2', 'score': 0.21}]
chr2 GH02I183034 183034790 183039545 2.04 [{'connected_gene': 'NCKAP1', 'score': 555.34}, {'connected_gene': 'NUP35', 'score': 26.3}, {'connected_gene': 'DNAJC10', 'score': 10.58}, {'connected_gene': 'FRZB', 'score': 9.64}, {'connected_gene': 'GC02M183023', 'score': 0.39}, {'connected_gene': 'ENSG00000202141', 'score': 0.39}]