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
ENST00000553481 [[24780655, 24780764], [24784842, 24785164]] [[24784857, 24785164]]
ENST00000345363 [[24780704, 24781010], [24784842, 24786152]] [[24784857, 24785916]]
ENST00000396789 [[24782516, 24784226], [24784842, 24787242]] [[24784857, 24785916]]
ENST00000556141 [[24783119, 24783161], [24785098, 24785853]] [[24785157, 24785853]]
ENST00000396782 [[24783905, 24784222], [24784842, 24786152]] [[24784857, 24785916]]
NM_001143919 [[24780704, 24781010], [24784842, 24787242]] [[24784857, 24785916]]
NM_181657 [[24782312, 24784226], [24784842, 24787242]] [[24784857, 24785916]]
Promoter
Chrom Start End Description
chr14 24780233 24780251 CAGE_peak_4_at_LTB4R_5end
chr14 24780680 24780718 CAGE_peak_1_at_LTB4R_5end
chr14 24783923 24783939 CAGE_peak_5_at_LTB4R_5end
chr14 24784074 24784108 CAGE_peak_2_at_LTB4R_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
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 GH14I024397 24397447 24404184 1.99 [{'connected_gene': 'NYNRIN', 'score': 578.47}, {'connected_gene': 'KHNYN', 'score': 16.36}, {'connected_gene': 'ADCY4', 'score': 15.63}, {'connected_gene': 'NGDN', 'score': 12.84}, {'connected_gene': 'RIPK3', 'score': 11.68}, {'connected_gene': 'CBLN3', 'score': 11.6}, {'connected_gene': 'NFATC4', 'score': 10.26}, {'connected_gene': 'LTB4R', 'score': 4.49}]
chr14 GH14I024435 24435561 24438661 1.01 [{'connected_gene': 'SDR39U1', 'score': 39.16}, {'connected_gene': 'ADCY4', 'score': 11.5}, {'connected_gene': 'LTB4R', 'score': 10.98}, {'connected_gene': 'CIDEB', 'score': 10.98}, {'connected_gene': 'NOP9', 'score': 10.97}, {'connected_gene': 'DHRS1', 'score': 10.97}, {'connected_gene': 'LTB4R2', 'score': 10.97}, {'connected_gene': 'NYNRIN', 'score': 10.7}, {'connected_gene': 'ENSG00000258744', 'score': 6.85}, {'connected_gene': 'PIR37686', 'score': 0.44}, {'connected_gene': 'CBLN3', 'score': 0.44}, {'connected_gene': 'GC14P024445', 'score': 0.44}, {'connected_gene': 'KHNYN', 'score': 0.39}]
chr14 GH14I024306 24306328 24308843 1.46 [{'connected_gene': 'LTB4R2', 'score': 550.77}, {'connected_gene': 'CIDEB', 'score': 550.77}, {'connected_gene': 'DHRS1', 'score': 20.94}, {'connected_gene': 'LTB4R', 'score': 20.69}, {'connected_gene': 'TGM1', 'score': 6.29}, {'connected_gene': 'NOP9', 'score': 0.44}]
chr14 GH14I024364 24364968 24371044 2.27 [{'connected_gene': 'NFATC4', 'score': 550.77}, {'connected_gene': 'ADCY4', 'score': 20.94}, {'connected_gene': 'SDR39U1', 'score': 16.94}, {'connected_gene': 'RIPK3', 'score': 14.77}, {'connected_gene': 'NYNRIN', 'score': 12.77}, {'connected_gene': 'JPH4', 'score': 12.71}, {'connected_gene': 'CBLN3', 'score': 11.94}, {'connected_gene': 'KHNYN', 'score': 11.92}, {'connected_gene': 'TGM1', 'score': 10.16}, {'connected_gene': 'LTB4R', 'score': 9.68}, {'connected_gene': 'DHRS1', 'score': 8.94}]
chr14 GH14I024672 24672683 24675617 1.38 [{'connected_gene': 'GZMB', 'score': 34.53}, {'connected_gene': 'GZMH', 'score': 22.99}, {'connected_gene': 'CTSG', 'score': 18.44}, {'connected_gene': 'STXBP6', 'score': 9.7}, {'connected_gene': 'CMA1', 'score': 2.99}, {'connected_gene': 'CIDEB', 'score': 2.34}, {'connected_gene': 'LTB4R', 'score': 2.31}, {'connected_gene': 'RIPK3', 'score': 2.02}, {'connected_gene': 'TINF2', 'score': 1.81}, {'connected_gene': 'KHNYN', 'score': 1.65}, {'connected_gene': 'SDR39U1', 'score': 1.39}, {'connected_gene': 'LOC105370413', 'score': 0.28}, {'connected_gene': 'PIR50915', 'score': 0.21}]
chr14 GH14I024662 24662785 24663178 0.44 [{'connected_gene': 'GZMB', 'score': 12.39}, {'connected_gene': 'CTSG', 'score': 11.93}, {'connected_gene': 'GZMH', 'score': 11.12}, {'connected_gene': 'LTB4R', 'score': 4.47}, {'connected_gene': 'LOC105370413', 'score': 0.34}, {'connected_gene': 'PIR50915', 'score': 0.19}]
chr14 GH14I024240 24240327 24244153 2.5 [{'connected_gene': 'TINF2', 'score': 567.06}, {'connected_gene': 'KHNYN', 'score': 25.59}, {'connected_gene': 'RNA5SP383', 'score': 24.32}, {'connected_gene': 'LOC102724814', 'score': 18.69}, {'connected_gene': 'NGDN', 'score': 15.08}, {'connected_gene': 'NYNRIN', 'score': 12.14}, {'connected_gene': 'RNF31', 'score': 12.06}, {'connected_gene': 'SDR39U1', 'score': 11.17}, {'connected_gene': 'ENSG00000259321', 'score': 10.22}, {'connected_gene': 'TGM1', 'score': 10.0}, {'connected_gene': 'IRF9', 'score': 6.98}, {'connected_gene': 'PSME1', 'score': 2.87}, {'connected_gene': 'RIPK3', 'score': 2.19}, {'connected_gene': 'DHRS4L1', 'score': 1.81}, {'connected_gene': 'DCAF11', 'score': 1.79}, {'connected_gene': 'CIDEB', 'score': 1.37}, {'connected_gene': 'LTB4R', 'score': 1.33}, {'connected_gene': 'NEDD8', 'score': 0.44}]
chr14 GH14I024329 24327878 24328400 0.59 [{'connected_gene': 'ADCY4', 'score': 10.11}, {'connected_gene': 'LTB4R', 'score': 9.98}, {'connected_gene': 'PIR32510', 'score': 0.77}]
chr14 GH14I024377 24377235 24378961 0.92 [{'connected_gene': 'ADCY4', 'score': 16.59}, {'connected_gene': 'RIPK3', 'score': 16.03}, {'connected_gene': 'NYNRIN', 'score': 13.03}, {'connected_gene': 'KHNYN', 'score': 11.48}, {'connected_gene': 'CBLN3', 'score': 11.46}, {'connected_gene': 'LTB4R', 'score': 8.86}, {'connected_gene': 'NFATC4', 'score': 0.39}]
chr14 GH14I024333 24333295 24335724 1.93 [{'connected_gene': 'ADCY4', 'score': 560.68}, {'connected_gene': 'RIPK3', 'score': 26.75}, {'connected_gene': 'LTB4R', 'score': 11.29}, {'connected_gene': 'ENSG00000258973', 'score': 0.77}, {'connected_gene': 'PIR32510', 'score': 0.44}]
chr14 GH14I024212 24212220 24217155 2.13 [{'connected_gene': 'MDP1', 'score': 570.61}, {'connected_gene': 'CHMP4A', 'score': 558.82}, {'connected_gene': 'ENSG00000260669', 'score': 550.77}, {'connected_gene': 'ENSG00000254692', 'score': 550.77}, {'connected_gene': 'HOMEZ', 'score': 19.22}, {'connected_gene': 'IPO4', 'score': 18.89}, {'connected_gene': 'RNF31', 'score': 16.88}, {'connected_gene': 'CMA1', 'score': 14.54}, {'connected_gene': 'PABPN1', 'score': 13.53}, {'connected_gene': 'RNA5SP383', 'score': 12.51}, {'connected_gene': 'NGDN', 'score': 12.46}, {'connected_gene': 'TSSK4', 'score': 12.02}, {'connected_gene': 'SDR39U1', 'score': 11.82}, {'connected_gene': 'CTSG', 'score': 11.31}, {'connected_gene': 'KHNYN', 'score': 10.86}, {'connected_gene': 'BCL2L2-PABPN1', 'score': 10.83}, {'connected_gene': 'NOP9', 'score': 9.96}, {'connected_gene': 'NFATC4', 'score': 9.9}, {'connected_gene': 'LOC102724814', 'score': 9.73}, {'connected_gene': 'LTB4R', 'score': 4.54}, {'connected_gene': 'NEDD8-MDP1', 'score': 0.37}, {'connected_gene': 'NEDD8', 'score': 0.37}]
chr14 GH14I024309 24309415 24318044 2.22 [{'connected_gene': 'LTB4R', 'score': 572.59}, {'connected_gene': 'CIDEB', 'score': 563.63}, {'connected_gene': 'LTB4R2', 'score': 550.44}, {'connected_gene': 'KHNYN', 'score': 40.62}, {'connected_gene': 'NGDN', 'score': 28.41}, {'connected_gene': 'NYNRIN', 'score': 24.91}, {'connected_gene': 'RNA5SP383', 'score': 15.89}, {'connected_gene': 'NFATC4', 'score': 14.57}, {'connected_gene': 'TM9SF1', 'score': 14.46}, {'connected_gene': 'SDR39U1', 'score': 14.42}, {'connected_gene': 'RNF31', 'score': 14.1}, {'connected_gene': 'DHRS1', 'score': 13.53}, {'connected_gene': 'TINF2', 'score': 13.34}, {'connected_gene': 'LOC102724814', 'score': 12.95}, {'connected_gene': 'PABPN1', 'score': 11.52}, {'connected_gene': 'NEDD8-MDP1', 'score': 10.9}, {'connected_gene': 'NEDD8', 'score': 10.9}, {'connected_gene': 'CBLN3', 'score': 10.84}, {'connected_gene': 'ENSG00000259321', 'score': 10.15}, {'connected_gene': 'TGM1', 'score': 6.32}, {'connected_gene': 'GC14M024319', 'score': 0.44}]
chr14 GH14I024298 24298495 24301137 2.03 [{'connected_gene': 'DHRS1', 'score': 565.0}, {'connected_gene': 'NOP9', 'score': 550.77}, {'connected_gene': 'LTB4R', 'score': 20.2}, {'connected_gene': 'PIR40275', 'score': 0.34}, {'connected_gene': 'LOC102725044', 'score': 0.31}]
chr14 GH14I024285 24285981 24286107 0.24 [{'connected_gene': 'DHRS1', 'score': 13.93}, {'connected_gene': 'LTB4R', 'score': 12.85}, {'connected_gene': 'CIDEB', 'score': 12.85}, {'connected_gene': 'DHRS4L1', 'score': 1.3}, {'connected_gene': 'PIR40275', 'score': 0.44}, {'connected_gene': 'LOC102725044', 'score': 0.39}]
chr14 GH14I024328 24328924 24330400 0.79 [{'connected_gene': 'RIPK3', 'score': 22.39}, {'connected_gene': 'ADCY4', 'score': 14.24}, {'connected_gene': 'LTB4R', 'score': 11.04}, {'connected_gene': 'DHRS1', 'score': 10.04}, {'connected_gene': 'PIR32510', 'score': 0.77}]
chr14 GH14I024692 24692683 24696159 1.45 [{'connected_gene': 'RNA5SP383', 'score': 23.98}, {'connected_gene': 'GZMB', 'score': 23.46}, {'connected_gene': 'KHNYN', 'score': 21.87}, {'connected_gene': 'ENSG00000259321', 'score': 19.13}, {'connected_gene': 'TM9SF1', 'score': 14.38}, {'connected_gene': 'RNF31', 'score': 14.03}, {'connected_gene': 'CIDEB', 'score': 12.99}, {'connected_gene': 'TINF2', 'score': 12.97}, {'connected_gene': 'NYNRIN', 'score': 10.04}, {'connected_gene': 'NFATC4', 'score': 10.03}, {'connected_gene': 'CTSG', 'score': 7.83}, {'connected_gene': 'CMA1', 'score': 3.41}, {'connected_gene': 'LTB4R', 'score': 1.7}, {'connected_gene': 'PIR50915', 'score': 0.28}, {'connected_gene': 'LOC105370413', 'score': 0.22}]
chr14 GH14I024277 24277001 24282199 1.21 [{'connected_gene': 'PIR40275', 'score': 550.77}, {'connected_gene': 'DHRS1', 'score': 39.77}, {'connected_gene': 'TINF2', 'score': 16.94}, {'connected_gene': 'NOP9', 'score': 12.92}, {'connected_gene': 'LTB4R2', 'score': 12.85}, {'connected_gene': 'LTB4R', 'score': 12.83}, {'connected_gene': 'CIDEB', 'score': 12.83}, {'connected_gene': 'GMPR2', 'score': 12.16}, {'connected_gene': 'NEDD8-MDP1', 'score': 12.16}, {'connected_gene': 'NEDD8', 'score': 12.16}, {'connected_gene': 'MDP1', 'score': 11.14}, {'connected_gene': 'CHMP4A', 'score': 11.13}, {'connected_gene': 'ENSG00000254692', 'score': 11.13}, {'connected_gene': 'TM9SF1', 'score': 11.1}, {'connected_gene': 'ADCY4', 'score': 10.8}, {'connected_gene': 'IPO4', 'score': 10.53}, {'connected_gene': 'REC8', 'score': 10.39}, {'connected_gene': 'TSSK4', 'score': 10.22}, {'connected_gene': 'IRF9', 'score': 3.96}, {'connected_gene': 'KHNYN', 'score': 2.93}, {'connected_gene': 'PSME1', 'score': 1.59}, {'connected_gene': 'DCAF11', 'score': 1.26}, {'connected_gene': 'LOC102725044', 'score': 0.44}]
chr14 GH14I024353 24353544 24354739 0.84 [{'connected_gene': 'ENSG00000283290', 'score': 550.77}, {'connected_gene': 'GC14M024354', 'score': 550.77}, {'connected_gene': 'RIPK3', 'score': 15.79}, {'connected_gene': 'LTB4R', 'score': 8.26}, {'connected_gene': 'ADCY4', 'score': 7.26}, {'connected_gene': 'DHRS1', 'score': 5.73}, {'connected_gene': 'NFATC4', 'score': 0.39}]