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
ENST00000398226 [[101811021, 101811850], [101812968, 101813061], [101814624, 101814700], [101814796, 101814886], [101815459, 101815566], [101816745, 101816880], [101817546, 101817655]] [[101812975, 101813061], [101814624, 101814700], [101814796, 101814886], [101815459, 101815566], [101816745, 101816880], [101817546, 101817622]]
ENST00000537379 [[101811213, 101811850], [101812968, 101813061], [101814624, 101814700], [101814796, 101814886], [101815459, 101815566], [101816745, 101816880], [101817546, 101817700]] [[101812981, 101813061], [101814624, 101814700], [101814796, 101814886], [101815459, 101815566], [101816745, 101816880], [101817546, 101817622]]
ENST00000531964 [[101811621, 101811850], [101812968, 101813061], [101814624, 101814700], [101814796, 101814886], [101815459, 101815566], [101816745, 101816880], [101817485, 101817519]] [[101812975, 101813061], [101814624, 101814700], [101814796, 101814886], [101815459, 101815566], [101816745, 101816880], [101817485, 101817492]]
ENST00000526049 [[101812386, 101813061], [101814624, 101814700], [101814796, 101814886], [101815459, 101815566], [101816745, 101816880], [101817546, 101817651]] [[101812975, 101813061], [101814624, 101814700], [101814796, 101814886], [101815459, 101815566], [101816745, 101816880], [101817546, 101817622]]
ENST00000526043 [[101812394, 101813061], [101814624, 101814700], [101814796, 101815566], [101816745, 101817676]] None
ENST00000528346 [[101813010, 101813061], [101814624, 101814700], [101814796, 101814886], [101815459, 101815566], [101816745, 101816880], [101817296, 101817492]] [[101813010, 101813061], [101814624, 101814700], [101814796, 101814886], [101815459, 101815566], [101816745, 101816880], [101817296, 101817492]]
ENST00000527833 [[101814372, 101814886], [101815459, 101815566], [101816745, 101816880], [101817546, 101817646]] None
ENST00000529968 [[101815304, 101815566], [101816745, 101816880], [101817546, 101817705]] None
ENST00000534014 [[101816637, 101816880], [101817546, 101817658]] None
NM_203472 [[101811113, 101811850], [101812968, 101813061], [101814624, 101814700], [101814796, 101814886], [101815459, 101815566], [101816745, 101816880], [101817546, 101817725]] [[101812981, 101813061], [101814624, 101814700], [101814796, 101814886], [101815459, 101815566], [101816745, 101816880], [101817546, 101817622]]
NM_018445 [[101812386, 101813061], [101814624, 101814700], [101814796, 101814886], [101815459, 101815566], [101816745, 101816880], [101817546, 101817725]] [[101812975, 101813061], [101814624, 101814700], [101814796, 101814886], [101815459, 101815566], [101816745, 101816880], [101817546, 101817622]]
Promoter
Chrom Start End Description
chr15 101817616 101817710 CAGE_peak_1_at_SELS_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr15 GH15I101640 101640665 101643321 1.21 [{'connected_gene': 'TM2D3', 'score': 28.69}, {'connected_gene': 'TARSL2', 'score': 20.07}, {'connected_gene': 'LOC100128108', 'score': 14.61}, {'connected_gene': 'SNRPA1', 'score': 11.53}, {'connected_gene': 'SELENOS', 'score': 11.25}, {'connected_gene': 'RNU6-807P', 'score': 0.44}, {'connected_gene': 'LINC02348', 'score': 0.31}]
chr15 GH15I101289 101289016 101289185 0.59 [{'connected_gene': 'SNRPA1', 'score': 0.44}, {'connected_gene': 'SELENOS', 'score': 0.39}]
chr15 GH15I101275 101275966 101279175 2.3 [{'connected_gene': 'SELENOS', 'score': 550.77}, {'connected_gene': 'PIR47639', 'score': 550.77}, {'connected_gene': 'CHSY1', 'score': 11.78}, {'connected_gene': 'RNU6-807P', 'score': 10.7}, {'connected_gene': 'SNRPA1', 'score': 0.37}]
chr15 GH15I101156 101156395 101157036 0.96 [{'connected_gene': 'CHSY1', 'score': 16.18}, {'connected_gene': 'SELENOS', 'score': 11.54}, {'connected_gene': 'GC15P101159', 'score': 0.77}, {'connected_gene': 'LOC105371026', 'score': 0.77}]
chr15 GH15I101279 101279456 101281450 0.59 [{'connected_gene': 'CHSY1', 'score': 11.63}, {'connected_gene': 'RNU6-807P', 'score': 11.12}, {'connected_gene': 'SELENOS', 'score': 0.77}, {'connected_gene': 'SNRPA1', 'score': 0.39}]
chr15 GH15I101723 101723098 101725150 1.55 [{'connected_gene': 'TARSL2', 'score': 550.77}, {'connected_gene': 'LOC100128108', 'score': 14.64}, {'connected_gene': 'SELENOS', 'score': 10.54}, {'connected_gene': 'TM2D3', 'score': 10.27}, {'connected_gene': 'GC15M101723', 'score': 0.2}]
chr15 GH15I101273 101273136 101273583 0.2 [{'connected_gene': 'GC15M101273', 'score': 550.77}, {'connected_gene': 'PIR39927', 'score': 550.77}, {'connected_gene': 'TM2D3', 'score': 10.25}, {'connected_gene': 'RNU6-807P', 'score': 9.41}, {'connected_gene': 'SELENOS', 'score': 0.77}, {'connected_gene': 'PIR47639', 'score': 0.77}]