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
ENST00000540964 [[223282747, 223286377], [223305816, 223305981], [223308023, 223308206], [223310519, 223310629]] [[223283796, 223286373]]
ENST00000366881 [[223283646, 223286377], [223305816, 223305981], [223308023, 223308206], [223310519, 223310605], [223314989, 223315105], [223316537, 223316624]] [[223283796, 223286373]]
ENST00000342210 [[223283706, 223286377], [223305816, 223305981], [223307730, 223307824], [223308023, 223308098]] [[223283796, 223286373]]
ENST00000407096 [[223286309, 223286377], [223305816, 223305981], [223308023, 223308206], [223316537, 223316580]] [[223286309, 223286373]]
ENST00000484766 [[223307773, 223307824], [223308023, 223308206], [223310519, 223310605], [223314989, 223315105], [223316537, 223316588]] None
ENST00000465726 [[223314723, 223315105], [223316537, 223316590]] None
NM_003268 [[223282747, 223286377], [223305816, 223305981], [223308023, 223308206], [223310519, 223310605], [223314989, 223315105], [223316537, 223316624]] [[223283796, 223286373]]
Promoter
Chrom Start End Description
chr1 223308214 223308225 CAGE_peak_3_at_TLR5_5end
chr1 223316577 223316597 CAGE_peak_1_at_TLR5_5end
chr1 223316611 223316635 CAGE_peak_2_at_TLR5_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I223109 223109071 223110465 1.02 [{'connected_gene': 'TAF1A', 'score': 15.14}, {'connected_gene': 'TLR5', 'score': 5.36}, {'connected_gene': 'PIR45603', 'score': 0.44}, {'connected_gene': 'LOC102724046', 'score': 0.44}]
chr1 GH01I223029 223029546 223032653 1.31 [{'connected_gene': 'DISP1', 'score': 5.75}, {'connected_gene': 'TLR5', 'score': 4.94}, {'connected_gene': 'LOC102724046', 'score': 0.19}, {'connected_gene': 'NDUFB1P2', 'score': 0.17}]
chr1 GH01I223122 223122623 223124110 1.02 [{'connected_gene': 'DISP1', 'score': 9.9}, {'connected_gene': 'LOC102724017', 'score': 9.9}, {'connected_gene': 'CAPN2', 'score': 9.81}, {'connected_gene': 'PIR45603', 'score': 0.44}, {'connected_gene': 'TLR5', 'score': 0.37}]
chr1 GH01I223018 223018128 223024528 1.23 [{'connected_gene': 'DISP1', 'score': 17.44}, {'connected_gene': 'ENSG00000272750', 'score': 11.41}, {'connected_gene': 'LOC102724017', 'score': 10.47}, {'connected_gene': 'TLR5', 'score': 4.86}, {'connected_gene': 'CAPN2', 'score': 4.15}, {'connected_gene': 'NDUFB1P2', 'score': 0.18}, {'connected_gene': 'LOC102724046', 'score': 0.18}]
chr1 GH01I223085 223085942 223090308 0.74 [{'connected_gene': 'CICP5', 'score': 11.88}, {'connected_gene': 'CICP13', 'score': 11.48}, {'connected_gene': 'ENSG00000272750', 'score': 11.43}, {'connected_gene': 'SUSD4', 'score': 4.54}, {'connected_gene': 'TLR5', 'score': 4.31}, {'connected_gene': 'LOC102724046', 'score': 0.37}, {'connected_gene': 'NDUFB1P2', 'score': 0.11}]
chr1 GH01I223028 223028831 223029312 0.31 [{'connected_gene': 'TLR5', 'score': 4.88}, {'connected_gene': 'DISP1', 'score': 4.57}, {'connected_gene': 'LOC102724046', 'score': 0.19}, {'connected_gene': 'NDUFB1P2', 'score': 0.18}]
chr1 GH01I223175 223175155 223176400 1.14 [{'connected_gene': 'TLR5', 'score': 16.74}, {'connected_gene': 'ENSG00000236846', 'score': 11.28}, {'connected_gene': 'GC01M223148', 'score': 0.44}, {'connected_gene': 'ENSG00000226601', 'score': 0.44}]
chr1 GH01I223176 223176482 223178400 1.29 [{'connected_gene': 'TLR5', 'score': 17.15}, {'connected_gene': 'ENSG00000236846', 'score': 11.09}, {'connected_gene': 'ENSG00000226601', 'score': 0.77}, {'connected_gene': 'GC01M223148', 'score': 0.44}]
chr1 GH01I223183 223183291 223183595 0.45 [{'connected_gene': 'TLR5', 'score': 2.79}, {'connected_gene': 'ENSG00000226601', 'score': 0.77}, {'connected_gene': 'GC01P223191', 'score': 0.44}]
chr1 GH01I223133 223133279 223135821 1.63 [{'connected_gene': 'TLR5', 'score': 550.44}, {'connected_gene': 'PIR45603', 'score': 0.37}]
chr1 GH01I223140 223140488 223141530 0.4 [{'connected_gene': 'TLR5', 'score': 0.77}, {'connected_gene': 'PIR45603', 'score': 0.34}]
chr1 GH01I223137 223137002 223138018 0.9 [{'connected_gene': 'TLR5', 'score': 0.44}, {'connected_gene': 'PIR45603', 'score': 0.37}]
chr1 GH01I222653 222653114 222655957 1.49 [{'connected_gene': 'BROX', 'score': 37.62}, {'connected_gene': 'ENSG00000272750', 'score': 27.72}, {'connected_gene': 'AIDA', 'score': 11.92}, {'connected_gene': 'TLR5', 'score': 1.17}, {'connected_gene': 'ENSG00000229399', 'score': 0.39}, {'connected_gene': 'MIA3', 'score': 0.28}]
chr1 GH01I223102 223102976 223103682 1.03 [{'connected_gene': 'LOC102724046', 'score': 550.77}, {'connected_gene': 'TLR5', 'score': 10.46}, {'connected_gene': 'ENSG00000236846', 'score': 10.44}, {'connected_gene': 'DISP1', 'score': 10.14}, {'connected_gene': 'LOC102724017', 'score': 10.14}, {'connected_gene': 'PIR45603', 'score': 0.39}]
chr1 GH01I223129 223129198 223129940 1.04 [{'connected_gene': 'LOC102724017', 'score': 9.9}, {'connected_gene': 'DISP1', 'score': 9.9}, {'connected_gene': 'CAPN2', 'score': 9.81}, {'connected_gene': 'PIR45603', 'score': 0.39}, {'connected_gene': 'TLR5', 'score': 0.39}]
chr1 GH01I223189 223189659 223191088 1.26 [{'connected_gene': 'GC01P223191', 'score': 550.77}, {'connected_gene': 'TLR5', 'score': 12.58}, {'connected_gene': 'CICP5', 'score': 11.88}, {'connected_gene': 'CICP13', 'score': 11.48}, {'connected_gene': 'ENSG00000272750', 'score': 11.42}, {'connected_gene': 'ENSG00000236846', 'score': 10.97}, {'connected_gene': 'ENSG00000226601', 'score': 0.44}]
chr1 GH01I223142 223142130 223144578 2.05 [{'connected_gene': 'ENSG00000236846', 'score': 550.77}, {'connected_gene': 'TLR5', 'score': 550.77}, {'connected_gene': 'CICP13', 'score': 28.77}, {'connected_gene': 'CICP5', 'score': 27.55}, {'connected_gene': 'ENSG00000272750', 'score': 23.71}, {'connected_gene': 'TAF1A', 'score': 18.79}, {'connected_gene': 'LOC100287497', 'score': 11.12}, {'connected_gene': 'FBXO28', 'score': 10.53}]
chr1 GH01I223228 223228954 223232303 0.79 [{'connected_gene': 'ENSG00000236846', 'score': 11.51}, {'connected_gene': 'TLR5', 'score': 11.51}, {'connected_gene': 'GC01P223191', 'score': 0.28}, {'connected_gene': 'PIR51913', 'score': 0.21}, {'connected_gene': 'SUSD4', 'score': 0.12}]
chr1 GH01I223179 223179879 223180202 0.43 [{'connected_gene': 'ENSG00000226601', 'score': 550.77}, {'connected_gene': 'TLR5', 'score': 13.76}, {'connected_gene': 'ENSG00000236846', 'score': 11.17}, {'connected_gene': 'GC01M223148', 'score': 0.44}]
chr1 GH01I223207 223207237 223209336 0.59 [{'connected_gene': 'ENSG00000236846', 'score': 10.77}, {'connected_gene': 'TLR5', 'score': 10.77}, {'connected_gene': 'GC01P223191', 'score': 0.37}, {'connected_gene': 'PIR51913', 'score': 0.18}]
chr1 GH01I223119 223119459 223119648 0.57 [{'connected_gene': 'PIR45603', 'score': 550.77}, {'connected_gene': 'TLR5', 'score': 0.34}]
chr1 GH01I223180 223180401 223181763 0.92 [{'connected_gene': 'ENSG00000226601', 'score': 550.77}, {'connected_gene': 'ENSG00000236846', 'score': 11.17}, {'connected_gene': 'TLR5', 'score': 11.17}, {'connected_gene': 'GC01M223148', 'score': 0.39}]
chr1 GH01I223114 223114560 223115668 0.66 [{'connected_gene': 'PIR45603', 'score': 0.77}, {'connected_gene': 'LOC102724046', 'score': 0.39}, {'connected_gene': 'TLR5', 'score': 0.31}]