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
ENST00000424789 [[61086916, 61086987], [61151303, 61151375], [61176535, 61176607], [61271351, 61271500], [61278131, 61278318], [61315174, 61315438], [61345108, 61345234], [61391748, 61392030], [61396317, 61396451], [61417461, 61417693], [61428610, 61428777], [61432143, 61432751], [61457078, 61457187], [61465995, 61466118], [61466668, 61466905], [61473103, 61473289], [61476181, 61476275], [61482482, 61482616], [61483514, 61483638], [61488871, 61489047], [61489358, 61489491], [61490903, 61490995], [61492888, 61493035], [61495667, 61495768], [61497359, 61505060]] [[61086920, 61086987], [61151303, 61151375], [61176535, 61176607], [61271351, 61271500], [61278131, 61278318], [61315174, 61315438], [61345108, 61345234], [61391748, 61392030], [61396317, 61396451], [61417461, 61417693], [61428610, 61428777], [61432143, 61432751], [61457078, 61457187], [61465995, 61466118], [61466668, 61466905], [61473103, 61473289], [61476181, 61476275], [61482482, 61482616], [61483514, 61483638], [61488871, 61489047], [61489358, 61489491], [61490903, 61490995], [61492888, 61493035], [61495667, 61495768], [61497359, 61499316]]
ENST00000389520 [[61086920, 61086987], [61151303, 61151375], [61176535, 61176607], [61271351, 61271500], [61278131, 61278318], [61315174, 61315438], [61345108, 61345234], [61391748, 61392030], [61396317, 61396451], [61417461, 61417693], [61428610, 61428777], [61432143, 61432751], [61457078, 61457187], [61465995, 61466118], [61466668, 61466905], [61473103, 61473289], [61476181, 61476275], [61482482, 61482616], [61483514, 61483638], [61488871, 61489047], [61489358, 61489491], [61490040, 61490070], [61490903, 61490995], [61492888, 61493035], [61495667, 61495768], [61497359, 61499717]] [[61086920, 61086987], [61151303, 61151375], [61176535, 61176607], [61271351, 61271500], [61278131, 61278318], [61315174, 61315438], [61345108, 61345234], [61391748, 61392030], [61396317, 61396451], [61417461, 61417693], [61428610, 61428777], [61432143, 61432751], [61457078, 61457187], [61465995, 61466118], [61466668, 61466905], [61473103, 61473289], [61476181, 61476275], [61482482, 61482616], [61483514, 61483638], [61488871, 61489047], [61489358, 61489491], [61490040, 61490070], [61490903, 61490995], [61492888, 61493035], [61495667, 61495768], [61497359, 61499316]]
ENST00000580068 [[61151305, 61151375], [61176535, 61176718], [61228630, 61228741], [61271351, 61271443]] [[61151305, 61151375], [61176535, 61176718], [61228630, 61228741], [61271351, 61271443]]
ENST00000580466 [[61151319, 61151375], [61176535, 61176718], [61271351, 61271443]] [[61151319, 61151375], [61176535, 61176718], [61271351, 61271443]]
ENST00000583356 [[61271354, 61271500], [61278131, 61278318], [61315174, 61315438], [61345108, 61345234], [61391748, 61392030], [61396317, 61396451], [61417461, 61417693], [61428610, 61428777], [61432143, 61432751], [61457078, 61457187], [61465995, 61466118], [61466668, 61466905], [61473103, 61473289], [61476181, 61476275], [61482482, 61482616], [61483514, 61483638], [61488871, 61489047], [61489358, 61489491], [61490903, 61490995], [61492888, 61493035], [61497359, 61501499]] [[61271354, 61271500], [61278131, 61278318], [61315174, 61315438], [61345108, 61345234], [61391748, 61392030], [61396317, 61396451], [61417461, 61417693], [61428610, 61428777], [61432143, 61432751], [61457078, 61457187], [61465995, 61466118], [61466668, 61466905], [61473103, 61473289], [61476181, 61476275], [61482482, 61482616], [61483514, 61483638], [61488871, 61489047], [61489358, 61489491], [61490903, 61490995], [61492888, 61493035], [61497359, 61497422]]
ENST00000581143 [[61466052, 61466118], [61466668, 61466905], [61473103, 61474337]] None
ENST00000581424 [[61225588, 61232587]] None
ENST00000583545 [[61432415, 61432751], [61457078, 61457187], [61465995, 61466118], [61466668, 61469118]] None
ENST00000583016 [[61473103, 61473289], [61476181, 61476647]] [[61473103, 61473289], [61476181, 61476403]]
ENST00000579541 [[61490531, 61490995], [61492888, 61492946]] None
NM_025185 [[61086897, 61086987], [61151303, 61151375], [61176535, 61176607], [61271351, 61271500], [61278131, 61278318], [61315174, 61315438], [61345108, 61345234], [61391748, 61392030], [61396317, 61396451], [61417461, 61417693], [61428610, 61428777], [61432143, 61432751], [61457078, 61457187], [61465995, 61466118], [61466668, 61466905], [61473103, 61473289], [61476181, 61476275], [61482482, 61482616], [61483514, 61483638], [61488871, 61489047], [61489358, 61489491], [61490903, 61490995], [61492888, 61493035], [61495667, 61495768], [61497359, 61505067]] [[61086920, 61086987], [61151303, 61151375], [61176535, 61176607], [61271351, 61271500], [61278131, 61278318], [61315174, 61315438], [61345108, 61345234], [61391748, 61392030], [61396317, 61396451], [61417461, 61417693], [61428610, 61428777], [61432143, 61432751], [61457078, 61457187], [61465995, 61466118], [61466668, 61466905], [61473103, 61473289], [61476181, 61476275], [61482482, 61482616], [61483514, 61483638], [61488871, 61489047], [61489358, 61489491], [61490903, 61490995], [61492888, 61493035], [61495667, 61495768], [61497359, 61499316]]
Promoter
Chrom Start End Description
chr17 61278266 61278271 CAGE_peak_2_at_TANC2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I062818 62818551 62825919 1.66 [{'connected_gene': 'MED13', 'score': 22.82}, {'connected_gene': 'TLK2', 'score': 15.94}, {'connected_gene': 'DDX42', 'score': 13.26}, {'connected_gene': 'RPS10P26', 'score': 11.95}, {'connected_gene': 'TANC2', 'score': 6.97}, {'connected_gene': 'GC17P062830', 'score': 0.44}, {'connected_gene': 'LOC101927877', 'score': 0.39}]
chr17 GH17I063035 63035400 63036071 0.68 [{'connected_gene': 'SMARCD2', 'score': 17.62}, {'connected_gene': 'FTSJ3', 'score': 16.25}, {'connected_gene': 'DDX42', 'score': 13.26}, {'connected_gene': 'MED13', 'score': 12.05}, {'connected_gene': 'RPS10P26', 'score': 11.92}, {'connected_gene': 'ENSG00000272164', 'score': 0.29}, {'connected_gene': 'LOC100419888', 'score': 0.23}, {'connected_gene': 'TANC2', 'score': 0.2}]
chr17 GH17I063419 63419687 63421301 1.07 [{'connected_gene': 'PPIAP55', 'score': 11.85}, {'connected_gene': 'ACE', 'score': 11.84}, {'connected_gene': 'CYB561', 'score': 11.75}, {'connected_gene': 'TACO1', 'score': 10.87}, {'connected_gene': 'LOC105371856', 'score': 0.44}, {'connected_gene': 'ENSG00000263644', 'score': 0.39}, {'connected_gene': 'GC17M063420', 'score': 0.34}, {'connected_gene': 'TANC2', 'score': 0.05}]
chr17 GH17I062964 62964920 62965069 0.2 [{'connected_gene': 'TANC2', 'score': 550.77}, {'connected_gene': 'ENSG00000283538', 'score': 0.77}, {'connected_gene': 'TRMT112P3', 'score': 0.39}]
chr17 GH17I062966 62964180 62964220 0.31 [{'connected_gene': 'TANC2', 'score': 0.77}, {'connected_gene': 'ENSG00000283538', 'score': 0.77}, {'connected_gene': 'TRMT112P3', 'score': 0.39}]
chr17 GH17I062967 62963800 62963949 0.31 [{'connected_gene': 'TANC2', 'score': 0.77}, {'connected_gene': 'ENSG00000283538', 'score': 0.77}, {'connected_gene': 'TRMT112P3', 'score': 0.39}]
chr17 GH17I062962 62962940 62963089 0.49 [{'connected_gene': 'TANC2', 'score': 0.77}, {'connected_gene': 'ENSG00000283538', 'score': 0.44}, {'connected_gene': 'TRMT112P3', 'score': 0.39}]
chr17 GH17I062986 62986073 62987370 0.49 [{'connected_gene': 'TANC2', 'score': 12.47}, {'connected_gene': 'MIR633', 'score': 11.47}, {'connected_gene': 'MRC2', 'score': 10.36}, {'connected_gene': 'CYB561', 'score': 4.64}, {'connected_gene': 'ENSG00000265971', 'score': 4.19}, {'connected_gene': 'GC17P062984', 'score': 0.77}, {'connected_gene': 'GC17P062996', 'score': 0.44}]
chr17 GH17I062965 62965096 62969249 1.55 [{'connected_gene': 'TANC2', 'score': 557.73}, {'connected_gene': 'ENSG00000283538', 'score': 550.77}, {'connected_gene': 'ENSG00000266411', 'score': 550.77}, {'connected_gene': 'CYB561', 'score': 16.68}, {'connected_gene': 'TLK2', 'score': 11.27}, {'connected_gene': 'DDX42', 'score': 10.46}, {'connected_gene': 'ENSG00000265971', 'score': 4.21}]
chr17 GH17I063009 63009490 63009549 0.68 [{'connected_gene': 'TANC2', 'score': 550.26}, {'connected_gene': 'ENSG00000272164', 'score': 0.77}, {'connected_gene': 'GC17P062996', 'score': 0.39}, {'connected_gene': 'LOC100419888', 'score': 0.18}]
chr17 GH17I063295 63295420 63295609 0.38 [{'connected_gene': 'TANC2', 'score': 4.69}, {'connected_gene': 'GC17P063302', 'score': 0.44}, {'connected_gene': 'GC17M063258', 'score': 0.28}, {'connected_gene': 'ENSG00000233635', 'score': 0.26}]
chr17 GH17I063292 63292636 63294518 0.9 [{'connected_gene': 'CYB561', 'score': 5.43}, {'connected_gene': 'ENSG00000265282', 'score': 5.42}, {'connected_gene': 'MAP3K3', 'score': 1.96}, {'connected_gene': 'LIMD2', 'score': 1.32}, {'connected_gene': 'GC17P063302', 'score': 0.44}, {'connected_gene': 'GC17M063258', 'score': 0.29}, {'connected_gene': 'ENSG00000233635', 'score': 0.25}, {'connected_gene': 'TANC2', 'score': 0.05}]
chr17 GH17I063278 63278729 63281513 1.03 [{'connected_gene': 'CYB561', 'score': 5.42}, {'connected_gene': 'ENSG00000265282', 'score': 5.26}, {'connected_gene': 'MAP3K3', 'score': 2.17}, {'connected_gene': 'LIMD2', 'score': 1.4}, {'connected_gene': 'GC17P063302', 'score': 0.34}, {'connected_gene': 'GC17M063258', 'score': 0.34}, {'connected_gene': 'ENSG00000233635', 'score': 0.22}, {'connected_gene': 'TANC2', 'score': 0.06}]
chr17 GH17I063425 63425520 63425669 0.83 [{'connected_gene': 'CYB561', 'score': 13.03}, {'connected_gene': 'PPIAP55', 'score': 12.21}, {'connected_gene': 'ACE', 'score': 12.2}, {'connected_gene': 'TACO1', 'score': 11.35}, {'connected_gene': 'DCAF7', 'score': 10.8}, {'connected_gene': 'ENSG00000263644', 'score': 0.44}, {'connected_gene': 'LOC105371856', 'score': 0.39}, {'connected_gene': 'GC17M063420', 'score': 0.37}, {'connected_gene': 'TANC2', 'score': 0.05}]
chr17 GH17I063423 63423401 63423800 0.58 [{'connected_gene': 'CYB561', 'score': 13.03}, {'connected_gene': 'PPIAP55', 'score': 12.21}, {'connected_gene': 'ACE', 'score': 12.2}, {'connected_gene': 'TACO1', 'score': 11.35}, {'connected_gene': 'DCAF7', 'score': 10.81}, {'connected_gene': 'ENSG00000265971', 'score': 4.67}, {'connected_gene': 'ENSG00000263644', 'score': 0.44}, {'connected_gene': 'LOC105371856', 'score': 0.44}, {'connected_gene': 'GC17M063420', 'score': 0.37}, {'connected_gene': 'TANC2', 'score': 0.05}]
chr17 GH17I063273 63273479 63278257 1.38 [{'connected_gene': 'CYB561', 'score': 23.41}, {'connected_gene': 'ENSG00000265282', 'score': 5.4}, {'connected_gene': 'TANC2', 'score': 5.29}, {'connected_gene': 'KCNH6', 'score': 4.26}, {'connected_gene': 'MAP3K3', 'score': 1.82}, {'connected_gene': 'LIMD2', 'score': 1.29}, {'connected_gene': 'GC17M063258', 'score': 0.37}, {'connected_gene': 'GC17P063302', 'score': 0.31}, {'connected_gene': 'ENSG00000233635', 'score': 0.21}]
chr17 GH17I062963 62963091 62963617 0.69 [{'connected_gene': 'CYB561', 'score': 25.68}, {'connected_gene': 'ENSG00000265971', 'score': 4.14}, {'connected_gene': 'TANC2', 'score': 0.77}, {'connected_gene': 'ENSG00000283538', 'score': 0.44}, {'connected_gene': 'TRMT112P3', 'score': 0.39}]
chr17 GH17I063149 63149780 63152881 1.02 [{'connected_gene': 'CYB561', 'score': 12.42}, {'connected_gene': 'TANC2', 'score': 5.39}, {'connected_gene': 'GC17P063148', 'score': 0.77}, {'connected_gene': 'LOC100421525', 'score': 0.29}]
chr17 GH17I063018 63018701 63020242 0.62 [{'connected_gene': 'CYB561', 'score': 13.19}, {'connected_gene': 'ENSG00000265971', 'score': 4.1}, {'connected_gene': 'ENSG00000272164', 'score': 0.39}, {'connected_gene': 'GC17P062996', 'score': 0.34}, {'connected_gene': 'TANC2', 'score': 0.23}, {'connected_gene': 'LOC100419888', 'score': 0.2}]
chr17 GH17I063139 63139920 63141077 0.72 [{'connected_gene': 'CYB561', 'score': 29.86}, {'connected_gene': 'GC17M063137', 'score': 0.77}, {'connected_gene': 'GC17P063148', 'score': 0.44}, {'connected_gene': 'TANC2', 'score': 0.09}]
chr17 GH17I063349 63349297 63350617 0.4 [{'connected_gene': 'CYB561', 'score': 6.37}, {'connected_gene': 'LOC105371857', 'score': 0.77}, {'connected_gene': 'ENSG00000233635', 'score': 0.39}, {'connected_gene': 'TANC2', 'score': 0.05}]
chr17 GH17I063394 63394826 63396212 0.38 [{'connected_gene': 'CYB561', 'score': 39.13}, {'connected_gene': 'ENSG00000271749', 'score': 0.77}, {'connected_gene': 'ENSG00000226797', 'score': 0.37}, {'connected_gene': 'LOC105371856', 'score': 0.37}, {'connected_gene': 'ENSG00000263644', 'score': 0.28}, {'connected_gene': 'TANC2', 'score': 0.04}]
chr17 GH17I063355 63355857 63359329 0.96 [{'connected_gene': 'TCAM1P', 'score': 4.49}, {'connected_gene': 'LOC105371857', 'score': 0.77}, {'connected_gene': 'GC17P063380', 'score': 0.34}, {'connected_gene': 'TANC2', 'score': 0.05}]
chr17 GH17I063397 63397539 63400719 0.72 [{'connected_gene': 'TCAM1P', 'score': 5.59}, {'connected_gene': 'ENSG00000271749', 'score': 0.44}, {'connected_gene': 'ENSG00000226797', 'score': 0.37}, {'connected_gene': 'LOC105371856', 'score': 0.37}, {'connected_gene': 'ENSG00000263644', 'score': 0.29}, {'connected_gene': 'TANC2', 'score': 0.04}]
chr17 GH17I063405 63405620 63407917 1.15 [{'connected_gene': 'FTSJ3', 'score': 24.52}, {'connected_gene': 'SMARCD2', 'score': 17.63}, {'connected_gene': 'TLK2', 'score': 15.91}, {'connected_gene': 'ENSG00000281311', 'score': 14.08}, {'connected_gene': 'DDX42', 'score': 13.29}, {'connected_gene': 'RPS10P26', 'score': 11.91}, {'connected_gene': 'ERN1', 'score': 11.35}, {'connected_gene': 'CYB561', 'score': 5.36}, {'connected_gene': 'ENSG00000226797', 'score': 0.44}, {'connected_gene': 'LOC105371856', 'score': 0.44}, {'connected_gene': 'ENSG00000271749', 'score': 0.39}, {'connected_gene': 'ENSG00000263644', 'score': 0.34}, {'connected_gene': 'TANC2', 'score': 0.04}]
chr17 GH17I063401 63401636 63403804 0.49 [{'connected_gene': 'DDX42', 'score': 9.79}, {'connected_gene': 'ENSG00000271749', 'score': 0.44}, {'connected_gene': 'ENSG00000226797', 'score': 0.39}, {'connected_gene': 'LOC105371856', 'score': 0.39}, {'connected_gene': 'ENSG00000263644', 'score': 0.31}, {'connected_gene': 'TANC2', 'score': 0.05}]
chr17 GH17I063029 63029523 63030114 0.31 [{'connected_gene': 'RNU6-446P', 'score': 10.77}, {'connected_gene': 'MRC2', 'score': 10.76}, {'connected_gene': 'ENSG00000272164', 'score': 0.34}, {'connected_gene': 'LOC100419888', 'score': 0.22}, {'connected_gene': 'TANC2', 'score': 0.21}]
chr17 GH17I063354 63354149 63354252 0.39 [{'connected_gene': 'LOC105371857', 'score': 550.77}, {'connected_gene': 'ACE', 'score': 46.3}, {'connected_gene': 'STRADA', 'score': 3.01}, {'connected_gene': 'ENSG00000233635', 'score': 0.37}, {'connected_gene': 'TANC2', 'score': 0.05}]
chr17 GH17I063178 63178720 63178869 0.2 [{'connected_gene': 'LOC100421525', 'score': 0.77}, {'connected_gene': 'GC17P063148', 'score': 0.29}, {'connected_gene': 'TANC2', 'score': 0.08}]
chr17 GH17I063191 63191201 63192369 0.51 [{'connected_gene': 'LOC100421525', 'score': 0.44}, {'connected_gene': 'GC17P063225', 'score': 0.29}, {'connected_gene': 'TANC2', 'score': 0.07}]
chr17 GH17I063201 63201836 63202011 0.34 [{'connected_gene': 'LOC100421525', 'score': 0.37}, {'connected_gene': 'GC17P063225', 'score': 0.34}, {'connected_gene': 'ENSG00000233635', 'score': 0.12}, {'connected_gene': 'TANC2', 'score': 0.07}]
chr17 GH17I063196 63196801 63197745 0.63 [{'connected_gene': 'LOC100421525', 'score': 0.37}, {'connected_gene': 'GC17P063225', 'score': 0.31}, {'connected_gene': 'ENSG00000233635', 'score': 0.11}, {'connected_gene': 'TANC2', 'score': 0.07}]
chr17 GH17I063189 63189200 63189401 0.8 [{'connected_gene': 'LOC100421525', 'score': 0.44}, {'connected_gene': 'GC17P063225', 'score': 0.28}, {'connected_gene': 'TANC2', 'score': 0.07}]
chr17 GH17I063222 63222001 63222308 0.26 [{'connected_gene': 'ENSG00000233635', 'score': 11.87}, {'connected_gene': 'TANC2', 'score': 5.32}, {'connected_gene': 'MAP3K3', 'score': 1.56}, {'connected_gene': 'GC17P063225', 'score': 0.77}, {'connected_gene': 'LOC100421525', 'score': 0.28}]
chr17 GH17I063249 63249228 63250131 0.2 [{'connected_gene': 'GC17M063245', 'score': 550.77}, {'connected_gene': 'CYB561', 'score': 30.36}, {'connected_gene': 'GC17M063258', 'score': 0.39}, {'connected_gene': 'GC17P063225', 'score': 0.34}, {'connected_gene': 'ENSG00000233635', 'score': 0.17}, {'connected_gene': 'TANC2', 'score': 0.06}]
chr17 GH17I062994 62994973 62996400 1.06 [{'connected_gene': 'GC17P062996', 'score': 550.77}, {'connected_gene': 'DDX42', 'score': 21.27}, {'connected_gene': 'SMARCD2', 'score': 17.61}, {'connected_gene': 'FTSJ3', 'score': 16.25}, {'connected_gene': 'MED13', 'score': 12.05}, {'connected_gene': 'RPS10P26', 'score': 11.93}, {'connected_gene': 'ENSG00000265971', 'score': 4.57}, {'connected_gene': 'ENSG00000272164', 'score': 0.44}, {'connected_gene': 'TANC2', 'score': 0.31}]
chr17 GH17I063171 63171363 63172689 0.62 [{'connected_gene': 'ENSG00000233635', 'score': 11.13}, {'connected_gene': 'DDX42', 'score': 9.77}, {'connected_gene': 'FTSJ3', 'score': 5.74}, {'connected_gene': 'LOC100421525', 'score': 0.39}, {'connected_gene': 'GC17P063148', 'score': 0.34}, {'connected_gene': 'TANC2', 'score': 0.08}]
chr17 GH17I063345 63345780 63345929 0.2 [{'connected_gene': 'ENSG00000233635', 'score': 0.44}, {'connected_gene': 'LOC105371857', 'score': 0.44}, {'connected_gene': 'TANC2', 'score': 0.05}]
chr17 GH17I063381 63381280 63381429 0.88 [{'connected_gene': 'GC17P063380', 'score': 550.77}, {'connected_gene': 'ENSG00000271749', 'score': 0.39}, {'connected_gene': 'ENSG00000226797', 'score': 0.29}, {'connected_gene': 'LOC105371856', 'score': 0.29}, {'connected_gene': 'TANC2', 'score': 0.05}]
chr17 GH17I063117 63117080 63117269 0.67 [{'connected_gene': 'ENSG00000264513', 'score': 0.39}, {'connected_gene': 'LOC100419888', 'score': 0.31}, {'connected_gene': 'TANC2', 'score': 0.1}]
chr17 GH17I063096 63096316 63097142 0.31 [{'connected_gene': 'ENSG00000265971', 'score': 4.59}, {'connected_gene': 'LOC100419888', 'score': 0.44}, {'connected_gene': 'ENSG00000264513', 'score': 0.29}, {'connected_gene': 'TANC2', 'score': 0.12}]
chr17 GH17I063040 63040001 63040702 0.87 [{'connected_gene': 'ENSG00000272164', 'score': 0.28}, {'connected_gene': 'LOC100419888', 'score': 0.25}, {'connected_gene': 'TANC2', 'score': 0.19}]
chr17 GH17I063126 63126717 63126809 0.52 [{'connected_gene': 'ENSG00000264513', 'score': 0.77}, {'connected_gene': 'LOC100419888', 'score': 0.28}, {'connected_gene': 'TANC2', 'score': 0.1}]

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