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
ENST00000455127 [[79780286, 79781187], [79781287, 79781389], [79782162, 79782281], [79782374, 79782430], [79791113, 79791144]] [[79781122, 79781187], [79781287, 79781389], [79782162, 79782281], [79782374, 79782382]]
ENST00000576730 [[79780292, 79780783], [79781084, 79781187], [79781287, 79781389], [79782162, 79782281], [79782374, 79784538]] [[79781122, 79781187], [79781287, 79781389], [79782162, 79782281], [79782374, 79782382]]
ENST00000572645 [[79780292, 79780783], [79781084, 79781187], [79781287, 79781389], [79782162, 79782281], [79782374, 79782430], [79784255, 79784391], [79791113, 79791144]] [[79781122, 79781187], [79781287, 79781389], [79782162, 79782281], [79782374, 79782430], [79784255, 79784270]]
ENST00000538396 [[79780292, 79780783], [79781084, 79781187], [79781287, 79781389], [79782162, 79782281], [79782374, 79782430], [79791113, 79791167]] [[79781122, 79781187], [79781287, 79781389], [79782162, 79782281], [79782374, 79782382]]
ENST00000573478 [[79780304, 79781187], [79782162, 79782281], [79782374, 79782430], [79791113, 79791178]] [[79781122, 79781187], [79782162, 79782281], [79782374, 79782382]]
ENST00000574190 [[79780329, 79781187], [79781287, 79781389], [79782162, 79782281], [79782374, 79784070]] [[79781122, 79781187], [79781287, 79781389], [79782162, 79782281], [79782374, 79782382]]
ENST00000570507 [[79780676, 79781187], [79781287, 79781389], [79782162, 79782266], [79782374, 79782422]] [[79781122, 79781187], [79781287, 79781389], [79782162, 79782266], [79782374, 79782382]]
ENST00000575090 [[79780680, 79781187], [79781287, 79781389], [79781553, 79781696]] None
ENST00000576679 [[79780739, 79781187], [79781287, 79781389], [79782162, 79782363]] [[79781290, 79781389], [79782162, 79782300]]
ENST00000576431 [[79780992, 79781389], [79782162, 79782281], [79782374, 79782430], [79791113, 79791118]] [[79781162, 79781389], [79782162, 79782281], [79782374, 79782382]]
ENST00000575061 [[79781001, 79781187], [79781287, 79781389], [79782162, 79782281], [79782374, 79782430], [79784255, 79784391], [79791113, 79791132]] [[79781122, 79781187], [79781287, 79781389], [79782162, 79782281], [79782374, 79782430], [79784255, 79784270]]
NM_001288798 [[79780236, 79780783], [79781084, 79781187], [79781287, 79781389], [79782162, 79782281], [79782374, 79782430], [79784255, 79784391], [79791113, 79791170]] [[79781122, 79781187], [79781287, 79781389], [79782162, 79782281], [79782374, 79782430], [79784255, 79784270]]
NM_207368 [[79780236, 79781187], [79781287, 79781389], [79782162, 79782281], [79782374, 79782430], [79791113, 79791170]] [[79781122, 79781187], [79781287, 79781389], [79782162, 79782281], [79782374, 79782382]]
NM_001093767 [[79780236, 79780783], [79781084, 79781187], [79781287, 79781389], [79782162, 79782281], [79782374, 79782430], [79791113, 79791170]] [[79781122, 79781187], [79781287, 79781389], [79782162, 79782281], [79782374, 79782382]]
NM_001288799 [[79780236, 79781187], [79782162, 79782281], [79782374, 79782430], [79791113, 79791170]] [[79781122, 79781187], [79782162, 79782281], [79782374, 79782382]]
Promoter
Chrom Start End Description
chr17 79791135 79791175 CAGE_peak_1_at_FAM195B_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I081424 81424701 81424850 1.07 [{'connected_gene': 'OGFOD3', 'score': 66.37}, {'connected_gene': 'FAAP100', 'score': 57.09}, {'connected_gene': 'CEP131', 'score': 48.29}, {'connected_gene': 'ENSG00000262877', 'score': 42.76}, {'connected_gene': 'TEPSIN', 'score': 38.47}, {'connected_gene': 'ENSG00000265678', 'score': 32.3}, {'connected_gene': 'HEXDC', 'score': 30.92}, {'connected_gene': 'HGS', 'score': 29.7}, {'connected_gene': 'ENSG00000260563', 'score': 25.93}, {'connected_gene': 'ENSG00000260369', 'score': 25.35}, {'connected_gene': 'ENSG00000260011', 'score': 24.15}, {'connected_gene': 'ARL16', 'score': 22.63}, {'connected_gene': 'CCDC57', 'score': 20.92}, {'connected_gene': 'TSPAN10', 'score': 20.16}, {'connected_gene': 'CSNK1D', 'score': 20.15}, {'connected_gene': 'GPS1', 'score': 19.9}, {'connected_gene': 'OXLD1', 'score': 14.47}, {'connected_gene': 'ALYREF', 'score': 12.74}, {'connected_gene': 'CCDC137', 'score': 11.63}, {'connected_gene': 'DUS1L', 'score': 10.89}, {'connected_gene': 'CD7', 'score': 10.71}, {'connected_gene': 'SLC38A10', 'score': 10.7}, {'connected_gene': 'LOC105371925', 'score': 10.66}, {'connected_gene': 'LOC100130370', 'score': 10.66}, {'connected_gene': 'ENSG00000264548', 'score': 10.27}, {'connected_gene': 'MCRIP1', 'score': 10.01}, {'connected_gene': 'ENSG00000229848', 'score': 9.89}, {'connected_gene': 'RFNG', 'score': 9.71}, {'connected_gene': 'GC17M081444', 'score': 0.34}, {'connected_gene': 'MIR4740', 'score': 0.34}, {'connected_gene': 'BAHCC1', 'score': 0.31}]
chr17 GH17I081470 81470810 81472804 1.43 [{'connected_gene': 'OGFOD3', 'score': 15.35}, {'connected_gene': 'NPLOC4', 'score': 11.04}, {'connected_gene': 'FAAP100', 'score': 10.99}, {'connected_gene': 'RFNG', 'score': 10.86}, {'connected_gene': 'HEXDC', 'score': 9.83}, {'connected_gene': 'FSCN2', 'score': 7.14}, {'connected_gene': 'ACTG1', 'score': 6.44}, {'connected_gene': 'MCRIP1', 'score': 3.13}, {'connected_gene': 'PCYT2', 'score': 2.15}, {'connected_gene': 'OXLD1', 'score': 1.99}, {'connected_gene': 'LINC01971', 'score': 0.44}, {'connected_gene': 'ENSG00000263271', 'score': 0.44}]
chr17 GH17I081821 81821178 81823138 1.68 [{'connected_gene': 'TBCD', 'score': 15.6}, {'connected_gene': 'OGFOD3', 'score': 15.35}, {'connected_gene': 'ENSG00000263321', 'score': 12.44}, {'connected_gene': 'RFNG', 'score': 10.91}, {'connected_gene': 'FAAP100', 'score': 10.83}, {'connected_gene': 'HEXDC', 'score': 9.84}, {'connected_gene': 'C17orf62', 'score': 4.39}, {'connected_gene': 'MCRIP1', 'score': 0.39}, {'connected_gene': 'LOC105376789', 'score': 0.39}]
chr17 GH17I081700 81700673 81704907 2.29 [{'connected_gene': 'MRPL12', 'score': 550.77}, {'connected_gene': 'ENSG00000262049', 'score': 550.77}, {'connected_gene': 'ENSG00000262660', 'score': 550.77}, {'connected_gene': 'ARL16', 'score': 61.61}, {'connected_gene': 'ENSG00000260563', 'score': 35.36}, {'connected_gene': 'FAAP100', 'score': 34.07}, {'connected_gene': 'NARF-IT1', 'score': 32.93}, {'connected_gene': 'ENSG00000262652', 'score': 31.64}, {'connected_gene': 'ARL2BPP9', 'score': 30.03}, {'connected_gene': 'RFNG', 'score': 26.99}, {'connected_gene': 'TEPSIN', 'score': 26.59}, {'connected_gene': 'HGS', 'score': 24.48}, {'connected_gene': 'CSNK1D', 'score': 23.95}, {'connected_gene': 'OGFOD3', 'score': 22.57}, {'connected_gene': 'DUS1L', 'score': 21.97}, {'connected_gene': 'ENSG00000265678', 'score': 21.02}, {'connected_gene': 'CCDC137', 'score': 19.54}, {'connected_gene': 'HEXDC', 'score': 17.99}, {'connected_gene': 'TSPAN10', 'score': 14.84}, {'connected_gene': 'ALYREF', 'score': 14.71}, {'connected_gene': 'GCGR', 'score': 11.91}, {'connected_gene': 'PPP1R27', 'score': 11.87}, {'connected_gene': 'MCRIP1', 'score': 11.87}, {'connected_gene': 'CEP131', 'score': 11.0}, {'connected_gene': 'LOC105371942', 'score': 10.83}, {'connected_gene': 'CHMP6', 'score': 10.59}, {'connected_gene': 'SLC38A10', 'score': 10.43}, {'connected_gene': 'CCDC57', 'score': 9.89}, {'connected_gene': 'FOXK2', 'score': 9.86}, {'connected_gene': 'NPLOC4', 'score': 5.94}, {'connected_gene': 'ENSG00000262098', 'score': 5.13}, {'connected_gene': 'ENSG00000275902', 'score': 0.44}]
chr17 GH17I081558 81558823 81569901 1.25 [{'connected_gene': 'NPLOC4', 'score': 33.53}, {'connected_gene': 'TSPAN10', 'score': 33.37}, {'connected_gene': 'ARL16', 'score': 28.29}, {'connected_gene': 'OXLD1', 'score': 19.88}, {'connected_gene': 'FSCN2', 'score': 12.88}, {'connected_gene': 'ENSG00000229848', 'score': 12.88}, {'connected_gene': 'ENSG00000262877', 'score': 11.86}, {'connected_gene': 'PDE6G', 'score': 11.8}, {'connected_gene': 'CCDC137', 'score': 11.8}, {'connected_gene': 'GCGR', 'score': 11.2}, {'connected_gene': 'MCRIP1', 'score': 11.2}, {'connected_gene': 'PPP1R27', 'score': 11.2}, {'connected_gene': 'TMEM105', 'score': 10.59}, {'connected_gene': 'CEP131', 'score': 9.99}, {'connected_gene': 'GC17P081574', 'score': 0.44}, {'connected_gene': 'GC17P081558', 'score': 0.44}]
chr17 GH17I081825 81825925 81826114 0.72 [{'connected_gene': 'MCRIP1', 'score': 0.44}, {'connected_gene': 'LOC105376789', 'score': 0.37}]
chr17 GH17I081682 81682388 81685920 2.06 [{'connected_gene': 'ARL16', 'score': 629.74}, {'connected_gene': 'HGS', 'score': 561.18}, {'connected_gene': 'ALYREF', 'score': 32.69}, {'connected_gene': 'FOXK2', 'score': 20.71}, {'connected_gene': 'LOC105371942', 'score': 17.69}, {'connected_gene': 'CCDC137', 'score': 15.37}, {'connected_gene': 'PDE6G', 'score': 13.32}, {'connected_gene': 'NPLOC4', 'score': 13.25}, {'connected_gene': 'TSPAN10', 'score': 13.22}, {'connected_gene': 'P4HB', 'score': 12.1}, {'connected_gene': 'GCGR', 'score': 11.7}, {'connected_gene': 'MCRIP1', 'score': 11.68}, {'connected_gene': 'PPP1R27', 'score': 11.68}, {'connected_gene': 'CEP131', 'score': 11.52}, {'connected_gene': 'ANAPC11', 'score': 11.35}, {'connected_gene': 'NPB', 'score': 11.35}, {'connected_gene': 'PCYT2', 'score': 11.35}, {'connected_gene': 'GC17P081691', 'score': 0.44}]
chr17 GH17I082095 82095065 82108554 2.88 [{'connected_gene': 'FASN', 'score': 551.9}, {'connected_gene': 'CCDC57', 'score': 39.12}, {'connected_gene': 'TBCD', 'score': 23.42}, {'connected_gene': 'ENSG00000262877', 'score': 20.53}, {'connected_gene': 'CEP131', 'score': 19.74}, {'connected_gene': 'LOC105371942', 'score': 17.71}, {'connected_gene': 'ALYREF', 'score': 14.55}, {'connected_gene': 'WDR45B', 'score': 14.1}, {'connected_gene': 'ARL16', 'score': 12.12}, {'connected_gene': 'DCXR', 'score': 11.88}, {'connected_gene': 'FOXK2', 'score': 11.8}, {'connected_gene': 'TSPAN10', 'score': 11.44}, {'connected_gene': 'GPS1', 'score': 11.04}, {'connected_gene': 'HGS', 'score': 10.13}, {'connected_gene': 'ENSG00000262410', 'score': 10.03}, {'connected_gene': 'RFNG', 'score': 9.93}, {'connected_gene': 'FN3KRP', 'score': 9.92}, {'connected_gene': 'DUS1L', 'score': 5.97}, {'connected_gene': 'HEXDC', 'score': 5.44}, {'connected_gene': 'GCGR', 'score': 4.89}, {'connected_gene': 'OXLD1', 'score': 4.87}, {'connected_gene': 'NARF', 'score': 4.76}, {'connected_gene': 'ACTG1', 'score': 4.56}, {'connected_gene': 'LRRC45', 'score': 4.38}, {'connected_gene': 'ASPSCR1', 'score': 4.29}, {'connected_gene': 'MRPL12', 'score': 2.92}, {'connected_gene': 'RAC3', 'score': 2.76}, {'connected_gene': 'C17orf62', 'score': 2.15}, {'connected_gene': 'OGFOD3', 'score': 1.86}, {'connected_gene': 'CCDC137', 'score': 1.83}, {'connected_gene': 'SLC25A10', 'score': 1.63}, {'connected_gene': 'PCYT2', 'score': 1.31}, {'connected_gene': 'SIRT7', 'score': 1.3}, {'connected_gene': 'ANAPC11', 'score': 1.29}, {'connected_gene': 'MCRIP1', 'score': 1.23}, {'connected_gene': 'PIR53542', 'score': 0.39}]
chr17 GH17I081814 81814880 81816379 0.88 [{'connected_gene': 'TEPSIN', 'score': 20.22}, {'connected_gene': 'ENSG00000260563', 'score': 18.63}, {'connected_gene': 'NARF-IT1', 'score': 17.7}, {'connected_gene': 'FAAP100', 'score': 16.88}, {'connected_gene': 'CSNK1D', 'score': 15.89}, {'connected_gene': 'ENSG00000262652', 'score': 14.96}, {'connected_gene': 'ARL2BPP9', 'score': 13.97}, {'connected_gene': 'HGS', 'score': 13.64}, {'connected_gene': 'DUS1L', 'score': 12.64}, {'connected_gene': 'HEXDC', 'score': 12.53}, {'connected_gene': 'ENSG00000265678', 'score': 12.53}, {'connected_gene': 'OGFOD3', 'score': 11.59}, {'connected_gene': 'ALYREF', 'score': 10.74}, {'connected_gene': 'TBCD', 'score': 10.29}, {'connected_gene': 'CHMP6', 'score': 10.27}, {'connected_gene': 'SLC38A10', 'score': 9.98}, {'connected_gene': 'LOC105376789', 'score': 0.44}, {'connected_gene': 'MCRIP1', 'score': 0.37}]
chr17 GH17I081831 81831355 81835517 2.46 [{'connected_gene': 'PPP1R27', 'score': 550.77}, {'connected_gene': 'MCRIP1', 'score': 550.77}, {'connected_gene': 'TBCD', 'score': 15.6}, {'connected_gene': 'OGFOD3', 'score': 15.35}, {'connected_gene': 'ENSG00000263321', 'score': 12.43}, {'connected_gene': 'P4HB', 'score': 11.47}, {'connected_gene': 'NPLOC4', 'score': 11.04}, {'connected_gene': 'RFNG', 'score': 10.91}, {'connected_gene': 'FAAP100', 'score': 10.83}, {'connected_gene': 'HEXDC', 'score': 9.84}, {'connected_gene': 'GCGR', 'score': 8.96}, {'connected_gene': 'C17orf62', 'score': 4.43}]
chr17 GH17I081681 81681171 81682100 0.59 [{'connected_gene': 'PIR45047', 'score': 550.77}, {'connected_gene': 'HGS', 'score': 550.77}, {'connected_gene': 'ARL16', 'score': 48.57}, {'connected_gene': 'NPLOC4', 'score': 13.27}, {'connected_gene': 'TSPAN10', 'score': 13.24}, {'connected_gene': 'GCGR', 'score': 11.7}, {'connected_gene': 'PPP1R27', 'score': 11.68}, {'connected_gene': 'MCRIP1', 'score': 11.68}, {'connected_gene': 'ANAPC11', 'score': 11.22}, {'connected_gene': 'ALYREF', 'score': 11.22}, {'connected_gene': 'NPB', 'score': 11.22}, {'connected_gene': 'PCYT2', 'score': 11.22}, {'connected_gene': 'OXLD1', 'score': 0.39}]
chr17 GH17I081336 81336563 81347323 2.12 [{'connected_gene': 'GC17M081340', 'score': 550.77}, {'connected_gene': 'GC17P081340', 'score': 550.77}, {'connected_gene': 'FAAP100', 'score': 33.45}, {'connected_gene': 'RFNG', 'score': 30.49}, {'connected_gene': 'TMEM105', 'score': 26.34}, {'connected_gene': 'DUS1L', 'score': 25.66}, {'connected_gene': 'HGS', 'score': 23.26}, {'connected_gene': 'ENSG00000265678', 'score': 22.13}, {'connected_gene': 'LINC00482', 'score': 17.77}, {'connected_gene': 'TEPSIN', 'score': 13.94}, {'connected_gene': 'ENDOV', 'score': 13.64}, {'connected_gene': 'CEP131', 'score': 13.64}, {'connected_gene': 'ENSG00000260563', 'score': 13.14}, {'connected_gene': 'TSPAN10', 'score': 12.9}, {'connected_gene': 'SLC38A10', 'score': 12.89}, {'connected_gene': 'ARL16', 'score': 12.12}, {'connected_gene': 'ENSG00000262877', 'score': 11.82}, {'connected_gene': 'ENSG00000260369', 'score': 11.76}, {'connected_gene': 'CSNK1D', 'score': 11.36}, {'connected_gene': 'CCDC57', 'score': 11.26}, {'connected_gene': 'ENSG00000229848', 'score': 10.67}, {'connected_gene': 'NDUFAF8', 'score': 5.4}, {'connected_gene': 'MCRIP1', 'score': 5.35}, {'connected_gene': 'ACTG1', 'score': 4.02}, {'connected_gene': 'CHMP6', 'score': 3.92}, {'connected_gene': 'BAHCC1', 'score': 2.97}, {'connected_gene': 'MRPL12', 'score': 2.2}, {'connected_gene': 'PPP1R27', 'score': 2.0}, {'connected_gene': 'OXLD1', 'score': 1.98}, {'connected_gene': 'AATK', 'score': 1.41}, {'connected_gene': 'GC17M081346', 'score': 0.77}, {'connected_gene': 'ENSG00000275542', 'score': 0.77}, {'connected_gene': 'ENSG00000275966', 'score': 0.77}]

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