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
ENST00000359156 [[7623408, 7623993], [7632455, 7632592], [7633756, 7633852], [7635238, 7635358], [7635561, 7635600], [7635962, 7636271], [7637691, 7638012], [7639094, 7639409], [7639489, 7639582], [7639954, 7640269], [7640368, 7640683], [7647676, 7647997], [7649408, 7649729], [7651463, 7651784], [7653734, 7654058], [7655073, 7655160], [7656240, 7656489]] [[7632464, 7632592], [7633756, 7633852], [7635238, 7635358], [7635561, 7635600], [7635962, 7636271], [7637691, 7638012], [7639094, 7639409], [7639489, 7639582], [7639954, 7640269], [7640368, 7640683], [7647676, 7647997], [7649408, 7649729], [7651463, 7651784], [7653734, 7654058], [7655073, 7655160], [7656240, 7656286]]
ENST00000537044 [[7623411, 7623993], [7632455, 7633852], [7635238, 7635358], [7635561, 7635600], [7635962, 7636271], [7637691, 7638012], [7639094, 7639409], [7639489, 7639582], [7639954, 7640269], [7640368, 7640683], [7647676, 7647997], [7649408, 7649729], [7651463, 7651784], [7653734, 7654058], [7655073, 7655160], [7656240, 7656372]] None
ENST00000542705 [[7623569, 7623993], [7625703, 7625775]] None
ENST00000534848 [[7623766, 7623993], [7624441, 7624532]] None
ENST00000542280 [[7623771, 7623993], [7632455, 7632592], [7635561, 7635600], [7635962, 7636170]] [[7632464, 7632592], [7635561, 7635600], [7635962, 7636170]]
ENST00000537626 [[7623775, 7623993], [7632455, 7632592], [7635238, 7635358], [7635561, 7635600], [7635962, 7636088]] [[7632464, 7632592], [7635238, 7635358], [7635561, 7635600], [7635962, 7636088]]
ENST00000541972 [[7623775, 7623993], [7632455, 7632509], [7633756, 7633852], [7635238, 7635358], [7635561, 7635600], [7635962, 7636271], [7637691, 7638012], [7639094, 7639409], [7639489, 7639582], [7639954, 7640269], [7640368, 7640683], [7647676, 7647997], [7649408, 7649729], [7651463, 7651784], [7653734, 7654058], [7655073, 7655160], [7655312, 7655333]] [[7632486, 7632509], [7633756, 7633852], [7635238, 7635358], [7635561, 7635600], [7635962, 7636271], [7637691, 7638012], [7639094, 7639409], [7639489, 7639582], [7639954, 7640269], [7640368, 7640683], [7647676, 7647997], [7649408, 7649729], [7651463, 7651784], [7653734, 7654058], [7655073, 7655160], [7655312, 7655322]]
ENST00000396620 [[7623775, 7623993], [7632455, 7632509], [7633756, 7633852], [7635238, 7635358], [7635561, 7635600], [7635962, 7636271], [7637691, 7638012], [7639094, 7639409], [7639489, 7639582], [7639954, 7640683], [7647676, 7647997], [7649408, 7649729], [7651463, 7651784], [7653734, 7654058], [7655073, 7655160], [7656240, 7656372]] [[7632486, 7632509], [7633756, 7633852], [7635238, 7635358], [7635561, 7635600], [7635962, 7636271], [7637691, 7638012], [7639094, 7639409], [7639489, 7639582], [7639954, 7640683], [7647676, 7647997], [7649408, 7649729], [7651463, 7651784], [7653734, 7654058], [7655073, 7655160], [7656240, 7656286]]
ENST00000432237 [[7623775, 7623993], [7632455, 7632509], [7633756, 7633852], [7635238, 7635358], [7635561, 7635600], [7635962, 7636271], [7637691, 7638012], [7639094, 7639409], [7639489, 7639582], [7639954, 7640269], [7640368, 7640683], [7647676, 7647997], [7649408, 7649729], [7651463, 7651784], [7653734, 7654058], [7655073, 7655160], [7656240, 7656372]] [[7632486, 7632509], [7633756, 7633852], [7635238, 7635358], [7635561, 7635600], [7635962, 7636271], [7637691, 7638012], [7639094, 7639409], [7639489, 7639582], [7639954, 7640269], [7640368, 7640683], [7647676, 7647997], [7649408, 7649729], [7651463, 7651784], [7653734, 7654058], [7655073, 7655160], [7656240, 7656286]]
ENST00000538840 [[7635889, 7636271], [7637691, 7638014]] None
ENST00000539632 [[7635995, 7636294], [7637691, 7637940]] None
NM_004244 [[7623411, 7623993], [7632455, 7632592], [7633756, 7633852], [7635238, 7635358], [7635561, 7635600], [7635962, 7636271], [7637691, 7638012], [7639094, 7639409], [7639489, 7639582], [7639954, 7640269], [7640368, 7640683], [7647676, 7647997], [7649408, 7649729], [7651463, 7651784], [7653734, 7654058], [7655073, 7655160], [7656240, 7656414]] [[7632464, 7632592], [7633756, 7633852], [7635238, 7635358], [7635561, 7635600], [7635962, 7636271], [7637691, 7638012], [7639094, 7639409], [7639489, 7639582], [7639954, 7640269], [7640368, 7640683], [7647676, 7647997], [7649408, 7649729], [7651463, 7651784], [7653734, 7654058], [7655073, 7655160], [7656240, 7656286]]
NM_203416 [[7623411, 7623993], [7632455, 7632509], [7633756, 7633852], [7635238, 7635358], [7635561, 7635600], [7635962, 7636271], [7637691, 7638012], [7639094, 7639409], [7639489, 7639582], [7639954, 7640269], [7640368, 7640683], [7647676, 7647997], [7649408, 7649729], [7651463, 7651784], [7653734, 7654058], [7655073, 7655160], [7656240, 7656414]] [[7632486, 7632509], [7633756, 7633852], [7635238, 7635358], [7635561, 7635600], [7635962, 7636271], [7637691, 7638012], [7639094, 7639409], [7639489, 7639582], [7639954, 7640269], [7640368, 7640683], [7647676, 7647997], [7649408, 7649729], [7651463, 7651784], [7653734, 7654058], [7655073, 7655160], [7656240, 7656286]]
Promoter
Chrom Start End Description
chr12 7655329 7655334 CAGE_peak_3_at_CD163_5end
chr12 7656345 7656356 CAGE_peak_2_at_CD163_5end
chr12 7656357 7656379 CAGE_peak_1_at_CD163_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr12 GH12I007496 7496762 7498308 0.2 [{'connected_gene': 'CD163', 'score': 0.44}, {'connected_gene': 'CD163L1', 'score': 0.37}]
chr12 GH12I007500 7500396 7504352 0.96 [{'connected_gene': 'CD163', 'score': 550.77}, {'connected_gene': 'ATN1', 'score': 4.51}, {'connected_gene': 'CD163L1', 'score': 0.34}]
chr12 GH12I007512 7512600 7512942 1.16 [{'connected_gene': 'PEX5', 'score': 3.17}, {'connected_gene': 'SLC2A3', 'score': 3.07}, {'connected_gene': 'CD163', 'score': 1.7}, {'connected_gene': 'GC12M007519', 'score': 0.26}]
chr12 GH12I007540 7540890 7543260 0.58 [{'connected_gene': 'DPPA3', 'score': 9.86}, {'connected_gene': 'GC12M007519', 'score': 0.39}, {'connected_gene': 'CD163', 'score': 0.28}]
chr12 GH12I007498 7498401 7500200 0.69 [{'connected_gene': 'ATN1', 'score': 4.58}, {'connected_gene': 'CD163', 'score': 0.77}, {'connected_gene': 'CD163L1', 'score': 0.37}]
chr12 GH12I007555 7555531 7557177 0.97 [{'connected_gene': 'GC12M007519', 'score': 550.77}, {'connected_gene': 'CD163L1', 'score': 6.62}, {'connected_gene': 'CD163', 'score': 4.02}, {'connected_gene': 'PEX5', 'score': 1.26}, {'connected_gene': 'SLC2A3', 'score': 1.2}]