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
ENST00000480820 [[157823643, 157823799], [157839891, 157840087], [157841654, 157841780], [157920860, 157921034], [158015827, 158015864], [158072645, 158072697], [158178723, 158178792], [158254880, 158254987], [158261123, 158261276], [158261971, 158262311]] [[157839893, 157840087], [157841654, 157841780], [157920860, 157921034], [158015827, 158015864], [158072645, 158072697], [158178723, 158178792], [158254880, 158254987], [158261123, 158261276], [158261971, 158262064]]
ENST00000295930 [[157827840, 157828000], [157839891, 157840087], [157841654, 157841780], [157920860, 157921034], [158015827, 158015864], [158072645, 158072697], [158178723, 158178792], [158254880, 158254987], [158261123, 158261276], [158261971, 158262624]] [[157839893, 157840087], [157841654, 157841780], [157920860, 157921034], [158015827, 158015864], [158072645, 158072697], [158178723, 158178792], [158254880, 158254987], [158261123, 158261276], [158261971, 158262064]]
ENST00000471994 [[157827856, 157828012], [157839891, 157840087], [157841654, 157841780], [157920860, 157921034], [158015827, 158015864], [158072645, 158072697], [158178723, 158178751]] [[157839893, 157840087], [157841654, 157841780], [157920860, 157921034], [158015827, 158015864], [158072645, 158072697], [158178723, 158178751]]
ENST00000464171 [[157827877, 157828000], [157839891, 157840087], [157841654, 157841780], [158015827, 158015864], [158072645, 158072697], [158178723, 158178792], [158254880, 158254987], [158261123, 158261276], [158261971, 158263519]] [[157839893, 157840087], [157841654, 157841780], [158015827, 158015864], [158072645, 158072697], [158178723, 158178792], [158254880, 158254987], [158261123, 158261276], [158261971, 158262064]]
ENST00000312179 [[157827894, 157827986], [157839891, 157840087], [157841654, 157841780], [158015827, 158015864], [158072645, 158072697], [158178723, 158178792], [158254880, 158254987], [158261123, 158261276], [158261971, 158262582]] [[157839893, 157840087], [157841654, 157841780], [158015827, 158015864], [158072645, 158072697], [158178723, 158178792], [158254880, 158254987], [158261123, 158261276], [158261971, 158262064]]
ENST00000475278 [[157827895, 157827986], [157839891, 157840087], [157841654, 157841780], [157920860, 157921034], [158015827, 158015864], [158072645, 158072697], [158178723, 158178792], [158254880, 158254987], [158261971, 158262314]] [[157839893, 157840087], [157841654, 157841780], [157920860, 157921034], [158015827, 158015864], [158072645, 158072697], [158178723, 158178792], [158254880, 158254987], [158261971, 158262064]]
ENST00000480119 [[157827917, 157828000], [157839891, 157840087], [157841654, 157841780], [157920860, 157921034], [157943445, 157943522], [158015827, 158015864], [158072645, 158072697], [158178723, 158178792], [158254880, 158254987], [158261123, 158261276], [158261971, 158262232]] [[157839893, 157840087], [157841654, 157841780], [157920860, 157921034], [157943445, 157943522], [158015827, 158015856]]
ENST00000471911 [[157827944, 157828000], [157839891, 157840087], [157841654, 157841780], [158015827, 158015864], [158072645, 158072697], [158178723, 158178798], [158187132, 158187521]] None
ENST00000476899 [[157828190, 157828393], [157839891, 157840087], [157841654, 157841780], [157920860, 157921034], [158015827, 158015864], [158072645, 158072697]] [[157839893, 157840087], [157841654, 157841780], [157920860, 157921034], [158015827, 158015864], [158072645, 158072697]]
ENST00000477788 [[157839942, 157840087], [157841654, 157841780], [157849874, 157850052], [157920860, 157921034], [158015827, 158015864], [158072645, 158072740]] [[157839942, 157840087], [157841654, 157841780], [157849874, 157849941]]
ENST00000482822 [[157920860, 157921034], [158015827, 158015864], [158072645, 158072697], [158178723, 158178792], [158254880, 158254987], [158261123, 158261476]] [[157920860, 157921034], [158015827, 158015864], [158072645, 158072697], [158178723, 158178792], [158254880, 158254987], [158261123, 158261309]]
ENST00000496268 [[157920926, 157921034], [158015827, 158015864], [158020470, 158021364]] None
ENST00000494002 [[157825577, 157825760], [157839891, 157840087], [157841654, 157841780], [157920860, 157921034]] [[157839893, 157840087], [157841654, 157841780], [157920860, 157921034]]
ENST00000468344 [[157827937, 157828012], [157839891, 157840087], [157841654, 157841780], [157854533, 157854687]] None
NM_001271834 [[157827840, 157827986], [157839891, 157840087], [157841654, 157841780], [158015827, 158015864], [158072645, 158072697], [158178723, 158178792], [158254880, 158254987], [158261123, 158261276], [158261971, 158262624]] [[157839893, 157840087], [157841654, 157841780], [158015827, 158015864], [158072645, 158072697], [158178723, 158178792], [158254880, 158254987], [158261123, 158261276], [158261971, 158262064]]
NM_016625 [[157827840, 157828000], [157839891, 157840087], [157841654, 157841780], [157920860, 157921034], [158015827, 158015864], [158072645, 158072697], [158178723, 158178792], [158254880, 158254987], [158261123, 158261276], [158261971, 158262624]] [[157839893, 157840087], [157841654, 157841780], [157920860, 157921034], [158015827, 158015864], [158072645, 158072697], [158178723, 158178792], [158254880, 158254987], [158261123, 158261276], [158261971, 158262064]]
NM_001271838 [[157827840, 157828012], [157839891, 157840087], [157841654, 157841780], [157920860, 157921034], [158015827, 158015864], [158072645, 158072697], [158178723, 158178792], [158254880, 158254987], [158261123, 158261276], [158261971, 158262624]] [[157839893, 157840087], [157841654, 157841780], [157920860, 157921034], [158015827, 158015864], [158072645, 158072697], [158178723, 158178792], [158254880, 158254987], [158261123, 158261276], [158261971, 158262064]]
Promoter
Chrom Start End Description
chr3 157823323 157823328 CAGE_peak_17_at_RSRC1_5end
chr3 157823609 157823667 CAGE_peak_3_at_RSRC1_5end
chr3 157827856 157827916 CAGE_peak_1_at_RSRC1_5end
chr3 157828152 157828222 CAGE_peak_2_at_RSRC1_5end
chr3 157839897 157839901 CAGE_peak_4_at_RSRC1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I158352 158352630 158352796 0.74 [{'connected_gene': 'MFSD1', 'score': 1.86}, {'connected_gene': 'LOC100422604', 'score': 0.37}, {'connected_gene': 'GC03P158403', 'score': 0.23}, {'connected_gene': 'RSRC1', 'score': 0.07}]
chr3 GH03I158101 158101490 158107934 1.95 [{'connected_gene': 'SHOX2', 'score': 561.21}, {'connected_gene': 'RSRC1', 'score': 550.77}, {'connected_gene': 'CCNL1', 'score': 9.81}, {'connected_gene': 'MLF1', 'score': 5.48}, {'connected_gene': 'ENSG00000240207', 'score': 4.27}, {'connected_gene': 'GFM1', 'score': 4.19}, {'connected_gene': 'ENSG00000242536', 'score': 0.37}]
chr3 GH03I158160 158160953 158161543 0.52 [{'connected_gene': 'SHOX2', 'score': 0.23}, {'connected_gene': 'RSRC1', 'score': 0.22}, {'connected_gene': 'GC03M158221', 'score': 0.21}]
chr3 GH03I158097 158097201 158098670 1.12 [{'connected_gene': 'SHOX2', 'score': 10.87}, {'connected_gene': 'MLF1', 'score': 5.24}, {'connected_gene': 'RSRC1', 'score': 0.44}, {'connected_gene': 'ENSG00000242536', 'score': 0.44}]
chr3 GH03I158329 158329602 158330400 0.2 [{'connected_gene': 'SHOX2', 'score': 7.04}, {'connected_gene': 'MLF1', 'score': 5.14}, {'connected_gene': 'LOC100422604', 'score': 0.44}, {'connected_gene': 'RPL15P6', 'score': 0.23}, {'connected_gene': 'RSRC1', 'score': 0.07}]
chr3 GH03I158164 158164514 158166174 1.06 [{'connected_gene': 'RSRC1', 'score': 0.22}, {'connected_gene': 'GC03M158221', 'score': 0.22}, {'connected_gene': 'SHOX2', 'score': 0.22}]
chr3 GH03I158152 158152200 158152401 0.31 [{'connected_gene': 'RSRC1', 'score': 0.25}, {'connected_gene': 'SHOX2', 'score': 0.25}, {'connected_gene': 'GC03M158221', 'score': 0.19}]
chr3 GH03I158109 158109450 158111294 2.1 [{'connected_gene': 'RSRC1', 'score': 560.65}, {'connected_gene': 'CCNL1', 'score': 15.76}, {'connected_gene': 'LXN', 'score': 10.15}, {'connected_gene': 'SHOX2', 'score': 0.77}, {'connected_gene': 'GC03M158221', 'score': 0.14}]
chr3 GH03I158185 158185521 158186853 0.91 [{'connected_gene': 'RSRC1', 'score': 8.72}, {'connected_gene': 'MLF1', 'score': 7.76}, {'connected_gene': 'GC03M158221', 'score': 0.28}, {'connected_gene': 'SHOX2', 'score': 0.18}]
chr3 GH03I158133 158133085 158134392 0.6 [{'connected_gene': 'RSRC1', 'score': 8.87}, {'connected_gene': 'MLF1', 'score': 6.78}, {'connected_gene': 'SHOX2', 'score': 0.31}, {'connected_gene': 'GC03M158221', 'score': 0.17}]
chr3 GH03I158118 158118340 158118399 1.15 [{'connected_gene': 'RSRC1', 'score': 550.39}, {'connected_gene': 'MLF1', 'score': 6.24}, {'connected_gene': 'SHOX2', 'score': 0.39}, {'connected_gene': 'GC03M158221', 'score': 0.14}]
chr3 GH03I157918 157918667 157920252 0.31 [{'connected_gene': 'RSRC1', 'score': 5.34}, {'connected_gene': 'RN7SKP46', 'score': 0.39}, {'connected_gene': 'GC03P157877', 'score': 0.26}]
chr3 GH03I158528 158528062 158528791 0.78 [{'connected_gene': 'MLF1', 'score': 10.58}, {'connected_gene': 'RSRC1', 'score': 3.96}, {'connected_gene': 'RPS12P7', 'score': 0.29}, {'connected_gene': 'LOC100996447', 'score': 0.26}]
chr3 GH03I158307 158307957 158309595 0.6 [{'connected_gene': 'MLF1', 'score': 9.05}, {'connected_gene': 'ENSG00000240207', 'score': 6.02}, {'connected_gene': 'LOC100422604', 'score': 0.31}, {'connected_gene': 'RPL15P6', 'score': 0.29}, {'connected_gene': 'RSRC1', 'score': 0.08}]
chr3 GH03I158271 158271822 158272677 0.71 [{'connected_gene': 'MLF1', 'score': 9.19}, {'connected_gene': 'RPL15P6', 'score': 0.77}, {'connected_gene': 'GC03M158221', 'score': 0.25}, {'connected_gene': 'RSRC1', 'score': 0.1}]
chr3 GH03I158508 158508741 158509065 0.52 [{'connected_gene': 'RPS12P7', 'score': 0.39}, {'connected_gene': 'LOC100996447', 'score': 0.21}, {'connected_gene': 'RSRC1', 'score': 0.05}]
chr3 GH03I158917 158917592 158918611 0.56 [{'connected_gene': 'GC03M158916', 'score': 550.77}, {'connected_gene': 'IQCJ', 'score': 11.38}, {'connected_gene': 'GFM1', 'score': 5.21}, {'connected_gene': 'RSRC1', 'score': 5.01}, {'connected_gene': 'IQCJ-SCHIP1', 'score': 0.26}]
chr3 GH03I158167 158167720 158168626 1.13 [{'connected_gene': 'ENSG00000240207', 'score': 5.98}, {'connected_gene': 'GC03M158221', 'score': 0.22}, {'connected_gene': 'RSRC1', 'score': 0.21}, {'connected_gene': 'SHOX2', 'score': 0.21}]
chr3 GH03I158419 158419920 158421779 0.93 [{'connected_gene': 'PIR31105', 'score': 550.77}, {'connected_gene': 'GC03P158422', 'score': 550.77}, {'connected_gene': 'RSRC1', 'score': 8.46}, {'connected_gene': 'MLF1', 'score': 6.6}, {'connected_gene': 'ENSG00000271778', 'score': 4.8}, {'connected_gene': 'SHOX2', 'score': 4.59}, {'connected_gene': 'GC03P158403', 'score': 0.37}]
chr3 GH03I157922 157921278 157921989 0.31 [{'connected_gene': 'ENSG00000242536', 'score': 5.24}, {'connected_gene': 'RSRC1', 'score': 4.53}, {'connected_gene': 'RN7SKP46', 'score': 0.44}, {'connected_gene': 'GC03P157877', 'score': 0.26}]
chr3 GH03I158483 158483764 158484540 0.6 [{'connected_gene': 'GC03P158484', 'score': 550.77}, {'connected_gene': 'PIR31105', 'score': 0.21}, {'connected_gene': 'GC03P158422', 'score': 0.21}, {'connected_gene': 'RSRC1', 'score': 0.05}]
chr3 GH03I158471 158471672 158471881 0.7 [{'connected_gene': 'GC03P158484', 'score': 0.39}, {'connected_gene': 'PIR31105', 'score': 0.25}, {'connected_gene': 'GC03P158422', 'score': 0.25}, {'connected_gene': 'RSRC1', 'score': 0.05}]
chr3 GH03I158432 158432027 158432393 0.4 [{'connected_gene': 'PIR31105', 'score': 0.39}, {'connected_gene': 'GC03P158422', 'score': 0.39}, {'connected_gene': 'GC03P158484', 'score': 0.23}, {'connected_gene': 'RSRC1', 'score': 0.05}]
chr3 GH03I158460 158460159 158460426 0.4 [{'connected_gene': 'ENSG00000240207', 'score': 5.94}, {'connected_gene': 'GC03P158484', 'score': 0.34}, {'connected_gene': 'PIR31105', 'score': 0.28}, {'connected_gene': 'GC03P158422', 'score': 0.28}, {'connected_gene': 'RSRC1', 'score': 0.05}]
chr3 GH03I158470 158470901 158471632 0.56 [{'connected_gene': 'ENSG00000240207', 'score': 5.71}, {'connected_gene': 'GC03P158484', 'score': 0.39}, {'connected_gene': 'PIR31105', 'score': 0.25}, {'connected_gene': 'GC03P158422', 'score': 0.25}, {'connected_gene': 'RSRC1', 'score': 0.05}]
chr3 GH03I158385 158385672 158386008 0.66 [{'connected_gene': 'GC03P158403', 'score': 0.37}, {'connected_gene': 'LOC100422604', 'score': 0.25}, {'connected_gene': 'RSRC1', 'score': 0.06}]
chr3 GH03I158367 158367861 158369043 1.08 [{'connected_gene': 'GC03P158403', 'score': 0.29}, {'connected_gene': 'LOC100422604', 'score': 0.29}, {'connected_gene': 'RSRC1', 'score': 0.07}]
chr3 GH03I158233 158233926 158234155 0.69 [{'connected_gene': 'GC03M158221', 'score': 0.39}, {'connected_gene': 'RPL15P6', 'score': 0.26}, {'connected_gene': 'RSRC1', 'score': 0.13}]
chr3 GH03I158291 158291733 158293047 0.6 [{'connected_gene': 'ENSG00000240207', 'score': 6.02}, {'connected_gene': 'RPL15P6', 'score': 0.37}, {'connected_gene': 'LOC100422604', 'score': 0.26}, {'connected_gene': 'RSRC1', 'score': 0.09}]