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
ENST00000298352 [[77731825, 77733013], [77734808, 77734928], [77735557, 77735669], [77737191, 77737655]] [[77732878, 77733013], [77734808, 77734928], [77735557, 77735669], [77737191, 77737280]]
NM_021257 [[77731833, 77733013], [77734808, 77734928], [77735557, 77735669], [77737191, 77737655]] [[77732878, 77733013], [77734808, 77734928], [77735557, 77735669], [77737191, 77737280]]
Promoter
Chrom Start End Description
chr14 77737543 77737554 CAGE_peak_1_at_NGB_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr14 GH14I077580 77580445 77583199 1.24 [{'connected_gene': 'SPTLC2', 'score': 27.14}, {'connected_gene': 'RPL21P10', 'score': 14.27}, {'connected_gene': 'ALKBH1', 'score': 12.8}, {'connected_gene': 'SNW1', 'score': 12.7}, {'connected_gene': 'VIPAS39', 'score': 12.33}, {'connected_gene': 'VASH1', 'score': 11.15}, {'connected_gene': 'ZMYND19P1', 'score': 11.12}, {'connected_gene': 'ENSG00000259081', 'score': 11.01}, {'connected_gene': 'RPL22P2', 'score': 10.64}, {'connected_gene': 'NGB', 'score': 9.83}, {'connected_gene': 'ANGEL1', 'score': 4.83}, {'connected_gene': 'RN7SL587P', 'score': 0.29}]
chr14 GH14I077133 77133858 77134027 0.84 [{'connected_gene': 'CIPC', 'score': 16.52}, {'connected_gene': 'ENSG00000201384', 'score': 10.71}, {'connected_gene': 'NGB', 'score': 10.19}, {'connected_gene': 'MIR1260A', 'score': 10.16}, {'connected_gene': 'TMED8', 'score': 9.66}, {'connected_gene': 'SAMD15', 'score': 9.66}, {'connected_gene': 'ENSG00000269883', 'score': 0.44}, {'connected_gene': 'ZDHHC22', 'score': 0.39}, {'connected_gene': 'TMEM63C', 'score': 0.37}, {'connected_gene': 'ENSG00000259164', 'score': 0.28}]
chr14 GH14I077119 77119540 77125855 1.57 [{'connected_gene': 'CIPC', 'score': 18.34}, {'connected_gene': 'ENSG00000201384', 'score': 11.15}, {'connected_gene': 'LINC02289', 'score': 5.67}, {'connected_gene': 'LINC02288', 'score': 4.57}, {'connected_gene': 'IRF2BPL', 'score': 2.06}, {'connected_gene': 'TMED8', 'score': 1.23}, {'connected_gene': 'NGB', 'score': 1.19}, {'connected_gene': 'TMEM63C', 'score': 0.44}, {'connected_gene': 'ENSG00000269883', 'score': 0.37}, {'connected_gene': 'ENSG00000259164', 'score': 0.34}]
chr14 GH14I076987 76987710 76988451 0.31 [{'connected_gene': 'IRF2BPL', 'score': 12.16}, {'connected_gene': 'CIPC', 'score': 10.14}, {'connected_gene': 'NGB', 'score': 9.13}, {'connected_gene': 'LINC01629', 'score': 8.14}, {'connected_gene': 'GC14M076985', 'score': 0.77}, {'connected_gene': 'GC14P077023', 'score': 0.28}]
chr14 GH14I076996 76996471 77001495 1.44 [{'connected_gene': 'IRF2BPL', 'score': 15.22}, {'connected_gene': 'CIPC', 'score': 11.57}, {'connected_gene': 'LINC01629', 'score': 5.4}, {'connected_gene': 'VASH1', 'score': 2.34}, {'connected_gene': 'NGB', 'score': 1.89}, {'connected_gene': 'ZDHHC22', 'score': 1.15}, {'connected_gene': 'GC14M076985', 'score': 0.39}, {'connected_gene': 'GC14P077023', 'score': 0.34}]
chr14 GH14I077301 77301832 77308334 1.39 [{'connected_gene': 'VIPAS39', 'score': 24.31}, {'connected_gene': 'IRF2BPL', 'score': 16.36}, {'connected_gene': 'GSTZ1', 'score': 15.6}, {'connected_gene': 'ALKBH1', 'score': 13.09}, {'connected_gene': 'NGB', 'score': 11.62}, {'connected_gene': 'MIR1260A', 'score': 11.22}, {'connected_gene': 'ZDHHC22', 'score': 10.98}, {'connected_gene': 'ENSG00000201384', 'score': 10.97}, {'connected_gene': 'SAMD15', 'score': 10.85}, {'connected_gene': 'TMED8', 'score': 10.85}, {'connected_gene': 'AHSA1', 'score': 10.53}, {'connected_gene': 'SNW1', 'score': 10.45}, {'connected_gene': 'RPL21P10', 'score': 10.32}, {'connected_gene': 'CIPC', 'score': 9.66}, {'connected_gene': 'POMT2', 'score': 6.49}, {'connected_gene': 'SPTLC2', 'score': 4.43}, {'connected_gene': 'PIR44060', 'score': 0.77}]
chr14 GH14I076767 76767379 76769592 1.23 [{'connected_gene': 'VIPAS39', 'score': 47.73}, {'connected_gene': 'SNW1', 'score': 37.99}, {'connected_gene': 'ALKBH1', 'score': 37.6}, {'connected_gene': 'ZMYND19P1', 'score': 36.1}, {'connected_gene': 'GPATCH2L', 'score': 33.25}, {'connected_gene': 'RPL22P2', 'score': 32.55}, {'connected_gene': 'IRF2BPL', 'score': 24.3}, {'connected_gene': 'RPL21P10', 'score': 20.19}, {'connected_gene': 'POMT2', 'score': 19.55}, {'connected_gene': 'ENSG00000259081', 'score': 16.72}, {'connected_gene': 'VASH1', 'score': 11.56}, {'connected_gene': 'IFT43', 'score': 10.29}, {'connected_gene': 'NGB', 'score': 9.8}, {'connected_gene': 'ENSG00000258610', 'score': 0.39}]
chr14 GH14I077092 77092865 77094164 0.38 [{'connected_gene': 'TMEM63C', 'score': 11.99}, {'connected_gene': 'IRF2BPL', 'score': 9.86}, {'connected_gene': 'VASH1', 'score': 9.45}, {'connected_gene': 'NGB', 'score': 9.08}, {'connected_gene': 'LINC02288', 'score': 6.19}, {'connected_gene': 'LINC02289', 'score': 5.26}, {'connected_gene': 'GC14P077095', 'score': 0.77}, {'connected_gene': 'ENSG00000258473', 'score': 0.44}]
chr14 GH14I077157 77157961 77159105 1.18 [{'connected_gene': 'TMEM63C', 'score': 17.29}, {'connected_gene': 'POMT2', 'score': 13.28}, {'connected_gene': 'ENSG00000201384', 'score': 11.54}, {'connected_gene': 'NGB', 'score': 10.8}, {'connected_gene': 'NOXRED1', 'score': 10.08}, {'connected_gene': 'SNW1', 'score': 9.96}, {'connected_gene': 'ZDHHC22', 'score': 0.39}, {'connected_gene': 'FAM204DP', 'score': 0.37}, {'connected_gene': 'ENSG00000259164', 'score': 0.21}]
chr14 GH14I077181 77181049 77182535 2.05 [{'connected_gene': 'TMEM63C', 'score': 573.03}, {'connected_gene': 'ZDHHC22', 'score': 11.5}, {'connected_gene': 'NGB', 'score': 10.58}, {'connected_gene': 'FAM204DP', 'score': 0.44}, {'connected_gene': 'ENSG00000201384', 'score': 0.37}, {'connected_gene': 'GC14M077202', 'score': 0.37}, {'connected_gene': 'ENSG00000259164', 'score': 0.18}]
chr14 GH14I077210 77210495 77211537 0.2 [{'connected_gene': 'TMEM63C', 'score': 21.09}, {'connected_gene': 'MIR1260A', 'score': 11.48}, {'connected_gene': 'NGB', 'score': 11.0}, {'connected_gene': 'ENSG00000201384', 'score': 0.44}, {'connected_gene': 'GC14M077202', 'score': 0.44}, {'connected_gene': 'ENSG00000259164', 'score': 0.14}]
chr14 GH14I077308 77308498 77312342 0.49 [{'connected_gene': 'POMT2', 'score': 13.44}, {'connected_gene': 'NGB', 'score': 11.43}, {'connected_gene': 'TMED8', 'score': 10.86}, {'connected_gene': 'SAMD15', 'score': 10.86}, {'connected_gene': 'ENSG00000201384', 'score': 10.7}, {'connected_gene': 'TMEM63C', 'score': 10.48}, {'connected_gene': 'GSTZ1', 'score': 8.63}, {'connected_gene': 'PIR44060', 'score': 0.44}]
chr14 GH14I077296 77296133 77297241 0.69 [{'connected_gene': 'GSTZ1', 'score': 23.4}, {'connected_gene': 'POMT2', 'score': 18.15}, {'connected_gene': 'NGB', 'score': 12.0}, {'connected_gene': 'MIR1260A', 'score': 11.54}, {'connected_gene': 'ZDHHC22', 'score': 11.28}, {'connected_gene': 'ENSG00000201384', 'score': 10.97}, {'connected_gene': 'VIPAS39', 'score': 10.52}, {'connected_gene': 'AHSA1', 'score': 10.52}, {'connected_gene': 'CIPC', 'score': 9.66}, {'connected_gene': 'TMEM63C', 'score': 4.87}, {'connected_gene': 'PIR44060', 'score': 0.44}, {'connected_gene': 'PIR56307', 'score': 0.34}]
chr14 GH14I077299 77299452 77301807 0.92 [{'connected_gene': 'GSTZ1', 'score': 24.52}, {'connected_gene': 'POMT2', 'score': 18.14}, {'connected_gene': 'NGB', 'score': 11.64}, {'connected_gene': 'MIR1260A', 'score': 11.24}, {'connected_gene': 'ZDHHC22', 'score': 10.99}, {'connected_gene': 'ENSG00000201384', 'score': 10.97}, {'connected_gene': 'VIPAS39', 'score': 10.53}, {'connected_gene': 'AHSA1', 'score': 10.53}, {'connected_gene': 'CIPC', 'score': 9.66}, {'connected_gene': 'PIR44060', 'score': 0.77}, {'connected_gene': 'PIR56307', 'score': 0.34}]
chr14 GH14I077312 77312625 77318317 1.5 [{'connected_gene': 'TMED8', 'score': 23.4}, {'connected_gene': 'GSTZ1', 'score': 17.58}, {'connected_gene': 'NGB', 'score': 11.05}, {'connected_gene': 'ZDHHC22', 'score': 10.98}, {'connected_gene': 'ENSG00000201384', 'score': 10.7}, {'connected_gene': 'SAMD15', 'score': 10.69}, {'connected_gene': 'VIPAS39', 'score': 10.42}, {'connected_gene': 'AHSA1', 'score': 10.42}, {'connected_gene': 'TMEM63C', 'score': 10.0}, {'connected_gene': 'POMT2', 'score': 6.19}, {'connected_gene': 'PIR44060', 'score': 0.39}]
chr14 GH14I077502 77502218 77502367 0.8 [{'connected_gene': 'TMED8', 'score': 10.1}, {'connected_gene': 'SAMD15', 'score': 10.1}, {'connected_gene': 'NGB', 'score': 9.19}, {'connected_gene': 'ISM2', 'score': 6.84}, {'connected_gene': 'VIPAS39', 'score': 5.36}, {'connected_gene': 'GC14M077506', 'score': 0.77}]
chr14 GH14I077347 77347564 77348367 0.43 [{'connected_gene': 'TMED8', 'score': 11.61}, {'connected_gene': 'SAMD15', 'score': 11.61}, {'connected_gene': 'NGB', 'score': 10.21}, {'connected_gene': 'GC14M077351', 'score': 0.77}, {'connected_gene': 'PIR41624', 'score': 0.44}, {'connected_gene': 'GC14P077343', 'score': 0.44}]
chr14 GH14I077174 77173690 77173935 0.27 [{'connected_gene': 'FAM204DP', 'score': 550.77}, {'connected_gene': 'ZDHHC22', 'score': 12.56}, {'connected_gene': 'ENSG00000201384', 'score': 11.96}, {'connected_gene': 'MIR1260A', 'score': 10.95}, {'connected_gene': 'TMEM63C', 'score': 10.8}, {'connected_gene': 'NGB', 'score': 10.75}, {'connected_gene': 'GC14M077202', 'score': 0.31}, {'connected_gene': 'ENSG00000259164', 'score': 0.18}]
chr14 GH14I077173 77173256 77173349 0.22 [{'connected_gene': 'FAM204DP', 'score': 550.77}, {'connected_gene': 'ZDHHC22', 'score': 12.56}, {'connected_gene': 'ENSG00000201384', 'score': 11.96}, {'connected_gene': 'MIR1260A', 'score': 10.95}, {'connected_gene': 'TMEM63C', 'score': 10.8}, {'connected_gene': 'NGB', 'score': 10.75}, {'connected_gene': 'ENSG00000259164', 'score': 0.19}]
chr14 GH14I077208 77208818 77208967 1.09 [{'connected_gene': 'MIR1260A', 'score': 11.48}, {'connected_gene': 'NGB', 'score': 11.0}, {'connected_gene': 'TMEM63C', 'score': 10.64}, {'connected_gene': 'ENSG00000201384', 'score': 0.44}, {'connected_gene': 'GC14M077202', 'score': 0.44}, {'connected_gene': 'ENSG00000259164', 'score': 0.14}]
chr14 GH14I076915 76915760 76931071 2.14 [{'connected_gene': 'ENSG00000259058', 'score': 550.77}, {'connected_gene': 'IRF2BPL', 'score': 15.0}, {'connected_gene': 'ENSG00000243225', 'score': 7.84}, {'connected_gene': 'LINC01629', 'score': 7.72}, {'connected_gene': 'TGFB3-AS1', 'score': 4.93}, {'connected_gene': 'ZDHHC22', 'score': 2.57}, {'connected_gene': 'VASH1', 'score': 1.7}, {'connected_gene': 'NGB', 'score': 1.44}, {'connected_gene': 'CIPC', 'score': 1.18}, {'connected_gene': 'PIR46005', 'score': 0.34}]
chr14 GH14I077084 77084121 77090263 1.45 [{'connected_gene': 'ENSG00000258473', 'score': 550.77}, {'connected_gene': 'TMEM63C', 'score': 11.48}, {'connected_gene': 'IRF2BPL', 'score': 11.23}, {'connected_gene': 'VASH1', 'score': 9.45}, {'connected_gene': 'NGB', 'score': 9.07}, {'connected_gene': 'LINC02288', 'score': 6.86}, {'connected_gene': 'GC14P077095', 'score': 0.44}]
chr14 GH14I077104 77104205 77105971 0.63 [{'connected_gene': 'ENSG00000201384', 'score': 10.2}, {'connected_gene': 'POMT2', 'score': 10.02}, {'connected_gene': 'GSTZ1', 'score': 10.02}, {'connected_gene': 'NGB', 'score': 9.16}, {'connected_gene': 'CIPC', 'score': 6.76}, {'connected_gene': 'PIR36428', 'score': 0.77}, {'connected_gene': 'ENSG00000259164', 'score': 0.44}]
chr14 GH14I077106 77106472 77107471 0.2 [{'connected_gene': 'ENSG00000201384', 'score': 10.84}, {'connected_gene': 'POMT2', 'score': 10.03}, {'connected_gene': 'GSTZ1', 'score': 10.03}, {'connected_gene': 'NGB', 'score': 9.69}, {'connected_gene': 'LINC02288', 'score': 4.86}, {'connected_gene': 'PIR36428', 'score': 0.77}, {'connected_gene': 'ENSG00000259164', 'score': 0.44}, {'connected_gene': 'CIPC', 'score': 0.44}]