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
ENST00000553896 [[24099323, 24099444], [24108035, 24108213], [24108387, 24108565], [24109002, 24109104], [24110874, 24111647]] None
ENST00000432832 [[24099323, 24099444], [24108035, 24108213], [24108387, 24108565], [24109002, 24109104], [24112360, 24112428], [24113319, 24113371], [24113617, 24113752]] [[24108073, 24108213], [24108387, 24108565], [24109002, 24109104], [24112360, 24112428], [24113319, 24113371], [24113617, 24113752]]
ENST00000250383 [[24105543, 24105981], [24108035, 24108213], [24108387, 24108565], [24109002, 24109104], [24112360, 24112428], [24113319, 24113371], [24113617, 24113752], [24114035, 24114091], [24114350, 24114848]] [[24108073, 24108213], [24108387, 24108565], [24109002, 24109104], [24112360, 24112428], [24113319, 24113371], [24113617, 24113752], [24114035, 24114091], [24114350, 24114462]]
ENST00000556701 [[24105575, 24105981], [24108035, 24108213], [24108387, 24108565], [24109002, 24109104], [24110874, 24112428], [24113319, 24113371], [24113617, 24113752], [24114035, 24114091], [24114350, 24114846]] None
ENST00000344777 [[24105581, 24105981], [24108035, 24108213], [24108387, 24108565], [24109002, 24109104], [24112360, 24112428], [24113319, 24113371], [24113617, 24113763], [24114035, 24114091], [24114350, 24114848]] [[24108073, 24108213], [24108387, 24108565], [24109002, 24109104], [24112360, 24112428], [24113319, 24113371], [24113617, 24113763], [24114035, 24114091], [24114350, 24114511]]
ENST00000556729 [[24107240, 24108213], [24108387, 24108565], [24109002, 24112428], [24113319, 24113371], [24113617, 24113752], [24114035, 24114091], [24114350, 24114848]] None
ENST00000557535 [[24108501, 24108565], [24109002, 24109104], [24112360, 24112428], [24113319, 24113371], [24113617, 24113704], [24114035, 24114091], [24114350, 24114848]] [[24108501, 24108565], [24109002, 24109104], [24112360, 24112428], [24113319, 24113371], [24113617, 24113704], [24114035, 24114091], [24114350, 24114462]]
ENST00000553600 [[24108547, 24108565], [24109002, 24109104], [24112360, 24112428], [24113319, 24113371], [24113617, 24113752], [24114035, 24114504]] [[24108547, 24108565], [24109002, 24109104], [24112360, 24112428], [24113319, 24113371], [24113617, 24113752], [24114035, 24114146]]
ENST00000556550 [[24112253, 24114848]] None
NM_001318835 [[24099323, 24099444], [24108035, 24108213], [24108387, 24108565], [24109002, 24109104], [24110874, 24111647]] [[24108073, 24108213], [24108387, 24108565], [24109002, 24109104], [24110874, 24110901]]
NM_005794 [[24105572, 24105981], [24108035, 24108213], [24108387, 24108565], [24109002, 24109104], [24112360, 24112428], [24113319, 24113371], [24113617, 24113752], [24114035, 24114091], [24114350, 24114848]] [[24108073, 24108213], [24108387, 24108565], [24109002, 24109104], [24112360, 24112428], [24113319, 24113371], [24113617, 24113752], [24114035, 24114091], [24114350, 24114462]]
NM_182908 [[24105572, 24105981], [24108035, 24108213], [24108387, 24108565], [24109002, 24109104], [24112360, 24112428], [24113319, 24113371], [24113617, 24113763], [24114035, 24114091], [24114350, 24114848]] [[24108073, 24108213], [24108387, 24108565], [24109002, 24109104], [24112360, 24112428], [24113319, 24113371], [24113617, 24113763], [24114035, 24114091], [24114350, 24114511]]
Promoter
Chrom Start End Description
chr14 24099318 24099333 CAGE_peak_2_at_DHRS2_5end
chr14 24099350 24099380 CAGE_peak_3_at_DHRS2_5end
chr14 24105566 24105579 CAGE_peak_1_at_DHRS2_5end
chr14 24105827 24105838 CAGE_peak_7_at_DHRS2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr14 GH14I023631 23631261 23633935 1.14 [{'connected_gene': 'CBLN3', 'score': 11.04}, {'connected_gene': 'PABPN1', 'score': 10.58}, {'connected_gene': 'SDR39U1', 'score': 10.51}, {'connected_gene': 'DHRS4-AS1', 'score': 5.73}, {'connected_gene': 'DHRS4', 'score': 5.64}, {'connected_gene': 'PIR53509', 'score': 0.77}, {'connected_gene': 'DHRS2', 'score': 0.77}]
chr14 GH14I023638 23638307 23643128 1.16 [{'connected_gene': 'MYH6', 'score': 9.74}, {'connected_gene': 'DHRS4-AS1', 'score': 5.67}, {'connected_gene': 'GC14P024212', 'score': 0.77}, {'connected_gene': 'PIR53509', 'score': 0.77}, {'connected_gene': 'DHRS2', 'score': 0.39}]
chr14 GH14I023692 23692043 23697716 1.16 [{'connected_gene': 'KHNYN', 'score': 21.83}, {'connected_gene': 'ACIN1', 'score': 19.29}, {'connected_gene': 'RNA5SP383', 'score': 15.83}, {'connected_gene': 'TM9SF1', 'score': 14.36}, {'connected_gene': 'RNF31', 'score': 14.04}, {'connected_gene': 'TINF2', 'score': 13.18}, {'connected_gene': 'LOC102724814', 'score': 13.04}, {'connected_gene': 'CIDEB', 'score': 12.88}, {'connected_gene': 'PRMT5', 'score': 12.25}, {'connected_gene': 'RBM23', 'score': 12.17}, {'connected_gene': 'HAUS4', 'score': 11.82}, {'connected_gene': 'C14orf93', 'score': 11.72}, {'connected_gene': 'NGDN', 'score': 11.11}, {'connected_gene': 'MMP14', 'score': 10.64}, {'connected_gene': 'ENSG00000259321', 'score': 10.1}, {'connected_gene': 'DHRS2', 'score': 6.74}, {'connected_gene': 'SLC22A17', 'score': 4.73}, {'connected_gene': 'DHRS4L2', 'score': 4.45}, {'connected_gene': 'LOC105370408', 'score': 0.77}, {'connected_gene': 'LOC105370410', 'score': 0.77}]
chr14 GH14I023659 23659976 23661288 0.49 [{'connected_gene': 'LOC105370407', 'score': 550.77}, {'connected_gene': 'DHRS2', 'score': 10.49}, {'connected_gene': 'LOC105370408', 'score': 0.29}]
chr14 GH14I023663 23663067 23664861 0.71 [{'connected_gene': 'DHRS2', 'score': 11.2}, {'connected_gene': 'NFATC4', 'score': 6.69}, {'connected_gene': 'DHRS4', 'score': 5.01}, {'connected_gene': 'NGDN', 'score': 2.13}, {'connected_gene': 'LOC105370407', 'score': 0.77}, {'connected_gene': 'LOC105370408', 'score': 0.31}]
chr14 GH14I023666 23666012 23666161 0.7 [{'connected_gene': 'DHRS2', 'score': 8.41}, {'connected_gene': 'LOC105370407', 'score': 0.44}, {'connected_gene': 'LOC105370408', 'score': 0.31}]
chr14 GH14I023637 23637908 23637967 1.07 [{'connected_gene': 'PIR53509', 'score': 550.77}, {'connected_gene': 'DHRS2', 'score': 550.44}, {'connected_gene': 'MYH6', 'score': 9.74}, {'connected_gene': 'GC14P024212', 'score': 0.44}]
chr14 GH14I023621 23621446 23622378 0.46 [{'connected_gene': 'ENSG00000274002', 'score': 0.77}, {'connected_gene': 'DHRS2', 'score': 0.44}]
chr14 GH14I023636 23636315 23636374 1.2 [{'connected_gene': 'PIR53509', 'score': 550.77}, {'connected_gene': 'DHRS2', 'score': 550.44}]

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