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
ENST00000561055 [[24734743, 24734969], [24735635, 24736095], [24736865, 24736914]] None
ENST00000560521 [[24734743, 24734961], [24735635, 24735723], [24735981, 24736095], [24736865, 24736982], [24737075, 24737164], [24737315, 24737369]] [[24734896, 24734961], [24735635, 24735723], [24735981, 24736095], [24736865, 24736982], [24737075, 24737164], [24737315, 24737369]]
ENST00000399409 [[24734743, 24734969], [24735635, 24735723], [24735981, 24736095], [24736865, 24736982], [24737075, 24737164], [24737315, 24737404], [24737574, 24737626], [24737719, 24737825], [24737930, 24738032], [24738116, 24738199], [24738285, 24738369], [24738696, 24738900], [24739158, 24739346], [24739539, 24739664], [24740042, 24740153], [24740318, 24740805]] [[24734820, 24734969], [24735635, 24735723], [24735981, 24736095], [24736865, 24736982], [24737075, 24737164], [24737315, 24737404], [24737574, 24737626], [24737719, 24737825], [24737930, 24738032], [24738116, 24738199], [24738285, 24738369], [24738696, 24738900], [24739158, 24739346], [24739539, 24739664], [24740042, 24740153], [24740318, 24740321]]
ENST00000216840 [[24734743, 24734969], [24735635, 24735723], [24735981, 24736095], [24736865, 24736982], [24737075, 24737164], [24737315, 24737404], [24737574, 24737626], [24737719, 24737825], [24737930, 24738032], [24738116, 24738199], [24738285, 24738369], [24738696, 24738900], [24739158, 24739346], [24739539, 24739664], [24740042, 24740153], [24740318, 24740375], [24740692, 24740945]] [[24734820, 24734969], [24735635, 24735723], [24735981, 24736095], [24736865, 24736982], [24737075, 24737164], [24737315, 24737404], [24737574, 24737626], [24737719, 24737825], [24737930, 24738032], [24738116, 24738199], [24738285, 24738369], [24738696, 24738900], [24739158, 24739346], [24739539, 24739664], [24740042, 24740153], [24740318, 24740321]]
ENST00000560243 [[24734747, 24734969], [24735635, 24735723], [24735870, 24735889], [24735981, 24736095], [24736865, 24736982], [24737075, 24737164], [24737315, 24737370]] [[24735706, 24735723], [24735870, 24735889], [24735981, 24736095], [24736865, 24736982], [24737075, 24737164], [24737315, 24737370]]
ENST00000559551 [[24734757, 24734969], [24735635, 24735723], [24735981, 24736095], [24736865, 24736982], [24737071, 24737164], [24737315, 24737404], [24737574, 24737626], [24737719, 24737825], [24737930, 24738032], [24738116, 24738199], [24738285, 24738369], [24738696, 24738900], [24739158, 24739346], [24739539, 24739664], [24740042, 24740375], [24740692, 24740762]] None
ENST00000559974 [[24734761, 24734969], [24735635, 24735723], [24735981, 24736095], [24736865, 24736982], [24737071, 24737164], [24737315, 24737404], [24737574, 24737626], [24737719, 24737825], [24737930, 24738032], [24738116, 24738199], [24738285, 24738369], [24738696, 24738900], [24739158, 24739346], [24739539, 24739664], [24740042, 24740153], [24740318, 24740454], [24740692, 24740755]] [[24736947, 24736982], [24737071, 24737164], [24737315, 24737404], [24737574, 24737626], [24737719, 24737825], [24737930, 24738032], [24738116, 24738199], [24738285, 24738369], [24738696, 24738900], [24739158, 24739346], [24739539, 24739664], [24740042, 24740153], [24740318, 24740321]]
ENST00000558376 [[24734762, 24734969], [24735635, 24735723], [24735981, 24736095], [24736865, 24736982], [24737071, 24737164], [24737315, 24737404], [24737574, 24737626], [24737719, 24737825], [24737930, 24738032], [24738116, 24738199], [24738285, 24738369], [24738696, 24738900], [24739158, 24739346], [24739539, 24739664], [24740042, 24740153], [24740318, 24740375], [24740692, 24740755]] [[24736947, 24736982], [24737071, 24737164], [24737315, 24737404], [24737574, 24737626], [24737719, 24737825], [24737930, 24738032], [24738116, 24738199], [24738285, 24738369], [24738696, 24738900], [24739158, 24739346], [24739539, 24739664], [24740042, 24740153], [24740318, 24740321]]
ENST00000560777 [[24734773, 24734969], [24735635, 24735723], [24735981, 24736095], [24736865, 24736982], [24737075, 24737164], [24737315, 24737404], [24738032, 24738199], [24738285, 24738369], [24738696, 24738900], [24739158, 24739207]] [[24734820, 24734969], [24735635, 24735723], [24735981, 24736095], [24736865, 24736982], [24737075, 24737138]]
ENST00000560998 [[24734775, 24734969], [24735635, 24735723], [24735981, 24736095], [24736865, 24736982], [24737075, 24737164], [24737315, 24737626], [24737719, 24737825], [24737930, 24738032], [24738116, 24738199], [24738285, 24738369], [24738696, 24738900], [24739158, 24739346], [24739539, 24739664], [24740042, 24740153], [24740318, 24740375], [24740692, 24740716]] None
ENST00000558649 [[24735810, 24736095], [24736865, 24736982], [24737075, 24737164], [24737315, 24737592]] None
ENST00000559850 [[24735991, 24736095], [24736865, 24736982], [24737075, 24737388]] None
ENST00000560871 [[24736022, 24736095], [24736865, 24736982], [24737075, 24737164], [24737315, 24737404], [24737574, 24737626], [24737719, 24738032], [24738116, 24738199], [24738285, 24738355]] None
ENST00000543002 [[24737109, 24737164], [24737315, 24737626], [24737719, 24737825], [24737930, 24738032], [24738116, 24738199], [24738285, 24738369], [24738696, 24738900], [24739158, 24739346], [24739539, 24739664], [24740318, 24740389]] None
ENST00000558534 [[24738493, 24738607], [24738696, 24738757], [24739158, 24739346], [24739539, 24739664], [24740042, 24740153], [24740318, 24740375], [24740692, 24740789]] None
ENST00000558936 [[24738551, 24738900], [24739158, 24739346], [24739539, 24739650]] None
ENST00000559586 [[24738579, 24738607], [24738696, 24738900], [24739158, 24739346], [24739539, 24739664], [24740042, 24740204], [24740318, 24740375], [24740692, 24740817]] None
ENST00000560127 [[24738834, 24738900], [24739158, 24739346], [24739565, 24739664], [24740042, 24740153], [24740318, 24740375], [24740692, 24740744]] [[24739337, 24739346], [24739565, 24739664], [24740042, 24740153], [24740318, 24740321]]
ENST00000558954 [[24738865, 24738900], [24739158, 24739346], [24739539, 24739664], [24740042, 24740153], [24740692, 24740803]] None
ENST00000560163 [[24739160, 24739346], [24739539, 24739664], [24740042, 24740204], [24740318, 24740722]] None
ENST00000560207 [[24739554, 24739664], [24740042, 24740610]] None
NM_004581 [[24734743, 24734969], [24735635, 24735723], [24735981, 24736095], [24736865, 24736982], [24737075, 24737164], [24737315, 24737404], [24737574, 24737626], [24737719, 24737825], [24737930, 24738032], [24738116, 24738199], [24738285, 24738369], [24738696, 24738900], [24739158, 24739346], [24739539, 24739664], [24740042, 24740153], [24740318, 24740833]] [[24734820, 24734969], [24735635, 24735723], [24735981, 24736095], [24736865, 24736982], [24737075, 24737164], [24737315, 24737404], [24737574, 24737626], [24737719, 24737825], [24737930, 24738032], [24738116, 24738199], [24738285, 24738369], [24738696, 24738900], [24739158, 24739346], [24739539, 24739664], [24740042, 24740153], [24740318, 24740321]]
NM_182836 [[24734743, 24734969], [24735635, 24735723], [24735981, 24736095], [24736865, 24736982], [24737075, 24737164], [24737315, 24737404], [24737574, 24737626], [24737719, 24737825], [24737930, 24738032], [24738116, 24738199], [24738285, 24738369], [24738696, 24738900], [24739158, 24739346], [24739539, 24739664], [24740042, 24740153], [24740318, 24740375], [24740692, 24740833]] [[24734820, 24734969], [24735635, 24735723], [24735981, 24736095], [24736865, 24736982], [24737075, 24737164], [24737315, 24737404], [24737574, 24737626], [24737719, 24737825], [24737930, 24738032], [24738116, 24738199], [24738285, 24738369], [24738696, 24738900], [24739158, 24739346], [24739539, 24739664], [24740042, 24740153], [24740318, 24740321]]
Promoter
Chrom Start End Description
chr14 24740372 24740401 CAGE_peak_2_at_RABGGTA_5end
chr14 24740709 24740825 CAGE_peak_1_at_RABGGTA_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr14 GH14I024187 24187003 24189616 1.83 [{'connected_gene': 'IPO4', 'score': 569.28}, {'connected_gene': 'NGDN', 'score': 66.93}, {'connected_gene': 'RNA5SP383', 'score': 43.21}, {'connected_gene': 'KHNYN', 'score': 41.17}, {'connected_gene': 'RNF31', 'score': 39.97}, {'connected_gene': 'NFATC4', 'score': 36.33}, {'connected_gene': 'LOC102724814', 'score': 33.71}, {'connected_gene': 'ENSG00000259321', 'score': 23.33}, {'connected_gene': 'SDR39U1', 'score': 21.94}, {'connected_gene': 'SLC22A17', 'score': 21.61}, {'connected_gene': 'NYNRIN', 'score': 20.91}, {'connected_gene': 'CIDEB', 'score': 19.83}, {'connected_gene': 'NOP9', 'score': 19.01}, {'connected_gene': 'EFS', 'score': 17.98}, {'connected_gene': 'TM9SF1', 'score': 12.94}, {'connected_gene': 'JPH4', 'score': 12.72}, {'connected_gene': 'TSSK4', 'score': 11.95}, {'connected_gene': 'TINF2', 'score': 11.77}, {'connected_gene': 'BCL2L2-PABPN1', 'score': 10.83}, {'connected_gene': 'RABGGTA', 'score': 10.18}, {'connected_gene': 'BCL2L2', 'score': 9.99}, {'connected_gene': 'HOMEZ', 'score': 9.85}, {'connected_gene': 'DHRS4L2', 'score': 5.43}, {'connected_gene': 'EMC9', 'score': 5.16}, {'connected_gene': 'ENSG00000259522', 'score': 0.77}, {'connected_gene': 'PIR48221', 'score': 0.77}, {'connected_gene': 'ENSG00000254692', 'score': 0.31}]
chr14 GH14I024262 24262409 24265249 1.32 [{'connected_gene': 'TGM1', 'score': 561.03}, {'connected_gene': 'DHRS1', 'score': 10.28}, {'connected_gene': 'RABGGTA', 'score': 5.06}, {'connected_gene': 'TINF2', 'score': 0.34}]
chr14 GH14I024270 24270149 24275502 2.41 [{'connected_gene': 'RABGGTA', 'score': 550.77}, {'connected_gene': 'LOC102725044', 'score': 550.77}, {'connected_gene': 'TSSK4', 'score': 35.45}, {'connected_gene': 'IPO4', 'score': 31.35}, {'connected_gene': 'RNF31', 'score': 23.06}, {'connected_gene': 'HOMEZ', 'score': 21.69}, {'connected_gene': 'KHNYN', 'score': 21.54}, {'connected_gene': 'NOP9', 'score': 21.08}, {'connected_gene': 'NGDN', 'score': 20.87}, {'connected_gene': 'DHRS1', 'score': 18.86}, {'connected_gene': 'TINF2', 'score': 17.44}, {'connected_gene': 'LTB4R', 'score': 15.37}, {'connected_gene': 'RNA5SP383', 'score': 12.42}, {'connected_gene': 'NEDD8-MDP1', 'score': 11.71}, {'connected_gene': 'NEDD8', 'score': 11.71}, {'connected_gene': 'GMPR2', 'score': 11.22}, {'connected_gene': 'CHMP4A', 'score': 10.9}, {'connected_gene': 'ENSG00000254692', 'score': 10.9}, {'connected_gene': 'MDP1', 'score': 10.9}, {'connected_gene': 'TM9SF1', 'score': 10.86}, {'connected_gene': 'BCL2L2-PABPN1', 'score': 10.83}, {'connected_gene': 'THTPA', 'score': 10.22}, {'connected_gene': 'SDR39U1', 'score': 9.86}, {'connected_gene': 'LOC102724814', 'score': 9.72}, {'connected_gene': 'CBLN3', 'score': 9.22}, {'connected_gene': 'RIPK3', 'score': 7.48}, {'connected_gene': 'IRF9', 'score': 4.27}, {'connected_gene': 'PSME1', 'score': 1.59}, {'connected_gene': 'DCAF11', 'score': 1.37}, {'connected_gene': 'PIR40275', 'score': 0.44}]
chr14 GH14I024391 24391392 24393158 1.45 [{'connected_gene': 'NYNRIN', 'score': 7.77}, {'connected_gene': 'RABGGTA', 'score': 2.24}, {'connected_gene': 'IPO4', 'score': 1.75}, {'connected_gene': 'NFATC4', 'score': 0.31}]
chr14 GH14I024275 24275635 24275784 0.46 [{'connected_gene': 'TINF2', 'score': 11.74}, {'connected_gene': 'NEDD8-MDP1', 'score': 11.71}, {'connected_gene': 'NEDD8', 'score': 11.71}, {'connected_gene': 'DHRS1', 'score': 11.36}, {'connected_gene': 'NOP9', 'score': 11.36}, {'connected_gene': 'GMPR2', 'score': 11.22}, {'connected_gene': 'MDP1', 'score': 10.9}, {'connected_gene': 'CHMP4A', 'score': 10.89}, {'connected_gene': 'ENSG00000254692', 'score': 10.89}, {'connected_gene': 'TM9SF1', 'score': 10.86}, {'connected_gene': 'IPO4', 'score': 10.55}, {'connected_gene': 'TSSK4', 'score': 10.18}, {'connected_gene': 'KHNYN', 'score': 9.23}, {'connected_gene': 'CBLN3', 'score': 9.22}, {'connected_gene': 'RABGGTA', 'score': 0.77}, {'connected_gene': 'LOC102725044', 'score': 0.77}, {'connected_gene': 'PIR40275', 'score': 0.77}]
chr14 GH14I024246 24246418 24248071 1.06 [{'connected_gene': 'CHMP4A', 'score': 16.3}, {'connected_gene': 'RABGGTA', 'score': 12.12}, {'connected_gene': 'NOP9', 'score': 11.73}, {'connected_gene': 'DHRS1', 'score': 11.73}, {'connected_gene': 'ENSG00000254692', 'score': 11.26}, {'connected_gene': 'MDP1', 'score': 11.26}, {'connected_gene': 'TM9SF1', 'score': 11.2}, {'connected_gene': 'IPO4', 'score': 10.43}, {'connected_gene': 'ADCY4', 'score': 10.0}, {'connected_gene': 'TSSK4', 'score': 9.82}, {'connected_gene': 'RNF31', 'score': 5.64}, {'connected_gene': 'TINF2', 'score': 0.77}, {'connected_gene': 'TGM1', 'score': 0.37}]

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