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
ENST00000238647 [[77490887, 77495034]] [[77491744, 77494135]]
NM_024496 [[77490885, 77495042]] [[77491744, 77494135]]
Promoter
Chrom Start End Description
chr14 77492017 77492030 CAGE_peak_20_at_IRF2BPL_5end
chr14 77493956 77493999 CAGE_peak_4_at_IRF2BPL_5end
chr14 77494141 77494170 CAGE_peak_5_at_IRF2BPL_5end
chr14 77494182 77494249 CAGE_peak_3_at_IRF2BPL_5end
chr14 77494741 77494752 CAGE_peak_7_at_IRF2BPL_5end
chr14 77494967 77495001 CAGE_peak_2_at_IRF2BPL_5end
chr14 77495007 77495093 CAGE_peak_1_at_IRF2BPL_5end
chr14 77495098 77495112 CAGE_peak_8_at_IRF2BPL_5end
chr14 77495113 77495122 CAGE_peak_11_at_IRF2BPL_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr14 GH14I077614 77614894 77617550 2.23 [{'connected_gene': 'SPTLC2', 'score': 561.1}, {'connected_gene': 'SNW1', 'score': 46.87}, {'connected_gene': 'VIPAS39', 'score': 34.59}, {'connected_gene': 'ALKBH1', 'score': 34.59}, {'connected_gene': 'RPL22P2', 'score': 34.22}, {'connected_gene': 'ADCK1', 'score': 19.91}, {'connected_gene': 'ZMYND19P1', 'score': 19.89}, {'connected_gene': 'RPL21P10', 'score': 10.42}, {'connected_gene': 'IRF2BPL', 'score': 9.91}, {'connected_gene': 'RN7SL587P', 'score': 0.2}]
chr14 GH14I077003 77003662 77010833 1.26 [{'connected_gene': 'CIPC', 'score': 15.64}, {'connected_gene': 'SNW1', 'score': 13.85}, {'connected_gene': 'IRF2BPL', 'score': 12.61}, {'connected_gene': 'ALKBH1', 'score': 12.34}, {'connected_gene': 'GPATCH2L', 'score': 11.91}, {'connected_gene': 'VIPAS39', 'score': 11.12}, {'connected_gene': 'RPL22P2', 'score': 10.27}, {'connected_gene': 'LINC01629', 'score': 5.31}, {'connected_gene': 'GC14P077023', 'score': 0.37}, {'connected_gene': 'GC14M076985', 'score': 0.34}]
chr14 GH14I077096 77096274 77100655 2.3 [{'connected_gene': 'CIPC', 'score': 556.91}, {'connected_gene': 'ENSG00000259164', 'score': 550.77}, {'connected_gene': 'GC14M077096', 'score': 550.77}, {'connected_gene': 'SNW1', 'score': 36.28}, {'connected_gene': 'VIPAS39', 'score': 35.65}, {'connected_gene': 'ZMYND19P1', 'score': 25.8}, {'connected_gene': 'RPL22P2', 'score': 25.54}, {'connected_gene': 'ALKBH1', 'score': 24.46}, {'connected_gene': 'IRF2BPL', 'score': 23.56}, {'connected_gene': 'GPATCH2L', 'score': 22.56}, {'connected_gene': 'RPL21P10', 'score': 11.91}, {'connected_gene': 'POMT2', 'score': 10.9}, {'connected_gene': 'LINC02288', 'score': 4.73}, {'connected_gene': 'PIR36428', 'score': 0.39}]
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 GH14I076900 76900415 76902148 0.78 [{'connected_gene': 'IRF2BPL', 'score': 11.63}, {'connected_gene': 'CIPC', 'score': 10.54}, {'connected_gene': 'LINC01629', 'score': 7.21}, {'connected_gene': 'PIR46005', 'score': 0.77}, {'connected_gene': 'ENSG00000259058', 'score': 0.34}]
chr14 GH14I077058 77058894 77060305 1.25 [{'connected_gene': 'IRF2BPL', 'score': 12.69}, {'connected_gene': 'CIPC', 'score': 10.85}, {'connected_gene': 'GC14P077053', 'score': 0.44}, {'connected_gene': 'LINC02289', 'score': 0.37}, {'connected_gene': 'LINC02288', 'score': 0.37}, {'connected_gene': 'ENSG00000258473', 'score': 0.31}]
chr14 GH14I077002 77002644 77003427 0.46 [{'connected_gene': 'IRF2BPL', 'score': 12.58}, {'connected_gene': 'CIPC', 'score': 10.09}, {'connected_gene': 'GC14M076985', 'score': 0.37}, {'connected_gene': 'GC14P077023', 'score': 0.34}]
chr14 GH14I076883 76883078 76883210 0.2 [{'connected_gene': 'IRF2BPL', 'score': 10.84}, {'connected_gene': 'RPL22P2', 'score': 0.77}, {'connected_gene': 'GC14M076862', 'score': 0.37}]
chr14 GH14I076880 76880971 76883060 0.2 [{'connected_gene': 'IRF2BPL', 'score': 10.84}, {'connected_gene': 'RPL22P2', 'score': 0.77}, {'connected_gene': 'GC14M076862', 'score': 0.37}]
chr14 GH14I077021 77021582 77047176 3.06 [{'connected_gene': 'IRF2BPL', 'score': 577.43}, {'connected_gene': 'LOC105370579', 'score': 550.77}, {'connected_gene': 'SNW1', 'score': 32.59}, {'connected_gene': 'ALKBH1', 'score': 32.3}, {'connected_gene': 'RPL22P2', 'score': 31.25}, {'connected_gene': 'VIPAS39', 'score': 29.63}, {'connected_gene': 'POMT2', 'score': 29.33}, {'connected_gene': 'ZMYND19P1', 'score': 27.18}, {'connected_gene': 'GPATCH2L', 'score': 22.24}, {'connected_gene': 'RPL21P10', 'score': 20.39}, {'connected_gene': 'CIPC', 'score': 13.7}, {'connected_gene': 'ENSG00000259081', 'score': 11.08}, {'connected_gene': 'LINC02288', 'score': 8.25}, {'connected_gene': 'TMEM63C', 'score': 1.88}, {'connected_gene': 'VASH1', 'score': 1.72}, {'connected_gene': 'TMED8', 'score': 1.21}, {'connected_gene': 'LRRC74A', 'score': 1.11}, {'connected_gene': 'GC14P077024', 'score': 0.44}, {'connected_gene': 'ENSG00000273729', 'score': 0.44}, {'connected_gene': 'GC14P077023', 'score': 0.39}]
chr14 GH14I076934 76934951 76936090 0.2 [{'connected_gene': 'IRF2BPL', 'score': 11.13}, {'connected_gene': 'ENSG00000259058', 'score': 0.39}, {'connected_gene': 'LINC01629', 'score': 0.34}]
chr14 GH14I076944 76944315 76945248 0.64 [{'connected_gene': 'IRF2BPL', 'score': 12.4}, {'connected_gene': 'LINC01629', 'score': 0.39}, {'connected_gene': 'ENSG00000259058', 'score': 0.34}]
chr14 GH14I076932 76932690 76933568 0.31 [{'connected_gene': 'IRF2BPL', 'score': 11.47}, {'connected_gene': 'ENSG00000259058', 'score': 0.44}, {'connected_gene': 'LINC01629', 'score': 0.31}]
chr14 GH14I076946 76946477 76949037 1.38 [{'connected_gene': 'IRF2BPL', 'score': 12.4}, {'connected_gene': 'LINC01629', 'score': 7.97}, {'connected_gene': 'ENSG00000259058', 'score': 0.34}]
chr14 GH14I076994 76994858 76996013 0.72 [{'connected_gene': 'IRF2BPL', 'score': 12.37}, {'connected_gene': 'GC14M076985', 'score': 0.44}, {'connected_gene': 'GC14P077023', 'score': 0.31}]
chr14 GH14I076993 76993838 76994727 0.84 [{'connected_gene': 'IRF2BPL', 'score': 12.37}, {'connected_gene': 'GC14M076985', 'score': 0.44}, {'connected_gene': 'GC14P077023', 'score': 0.31}]
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 GH14I077080 77080715 77082166 0.85 [{'connected_gene': 'TMEM63C', 'score': 11.44}, {'connected_gene': 'IRF2BPL', 'score': 11.24}, {'connected_gene': 'LINC02289', 'score': 6.27}, {'connected_gene': 'ENSG00000258473', 'score': 0.44}]
chr14 GH14I077082 77082518 77082667 0.9 [{'connected_gene': 'TMEM63C', 'score': 11.46}, {'connected_gene': 'IRF2BPL', 'score': 11.24}, {'connected_gene': 'ENSG00000258473', 'score': 0.77}, {'connected_gene': 'LINC02289', 'score': 0.44}]
chr14 GH14I077799 77799518 77801050 2.04 [{'connected_gene': 'ADCK1', 'score': 556.76}, {'connected_gene': 'RPL21P10', 'score': 23.15}, {'connected_gene': 'C14orf178', 'score': 19.6}, {'connected_gene': 'ZMYND19P1', 'score': 12.9}, {'connected_gene': 'IRF2BPL', 'score': 11.12}, {'connected_gene': 'ALKBH1', 'score': 11.01}, {'connected_gene': 'SNW1', 'score': 9.92}, {'connected_gene': 'RPL22P2', 'score': 9.86}, {'connected_gene': 'ENSG00000199440', 'score': 0.34}, {'connected_gene': 'GC14M077822', 'score': 0.34}]
chr14 GH14I076730 76730159 76730387 0.47 [{'connected_gene': 'VASH1', 'score': 14.74}, {'connected_gene': 'ENSG00000259124', 'score': 7.53}, {'connected_gene': 'LRRC74A', 'score': 2.21}, {'connected_gene': 'IRF2BPL', 'score': 1.17}, {'connected_gene': 'LOC105370577', 'score': 0.77}, {'connected_gene': 'PIR51217', 'score': 0.31}, {'connected_gene': 'ENSG00000258569', 'score': 0.29}]
chr14 GH14I076729 76729099 76729571 0.4 [{'connected_gene': 'LRRC74A', 'score': 14.96}, {'connected_gene': 'VASH1', 'score': 13.39}, {'connected_gene': 'ANGEL1', 'score': 11.05}, {'connected_gene': 'IRF2BPL', 'score': 1.17}, {'connected_gene': 'LOC105370577', 'score': 0.77}, {'connected_gene': 'PIR51217', 'score': 0.31}, {'connected_gene': 'ENSG00000258569', 'score': 0.29}]
chr14 GH14I076949 76949601 76963502 2.35 [{'connected_gene': 'LINC01629', 'score': 69.23}, {'connected_gene': 'IRF2BPL', 'score': 24.74}, {'connected_gene': 'SNW1', 'score': 22.81}, {'connected_gene': 'ALKBH1', 'score': 15.29}, {'connected_gene': 'ZMYND19P1', 'score': 13.39}, {'connected_gene': 'RPL22P2', 'score': 13.22}, {'connected_gene': 'VIPAS39', 'score': 13.22}, {'connected_gene': 'VASH1', 'score': 11.45}, {'connected_gene': 'ENSG00000243225', 'score': 11.42}, {'connected_gene': 'LINC02288', 'score': 11.11}, {'connected_gene': 'ENSG00000259081', 'score': 11.08}, {'connected_gene': 'RPL21P10', 'score': 10.47}, {'connected_gene': 'GPATCH2L', 'score': 10.22}, {'connected_gene': 'ANGEL1', 'score': 4.47}, {'connected_gene': 'LRRC74A', 'score': 3.89}, {'connected_gene': 'ENSG00000259058', 'score': 0.29}]
chr14 GH14I077054 77054697 77055442 0.63 [{'connected_gene': 'GC14P077053', 'score': 550.77}, {'connected_gene': 'IRF2BPL', 'score': 12.71}, {'connected_gene': 'CIPC', 'score': 10.83}, {'connected_gene': 'LINC02288', 'score': 0.39}, {'connected_gene': 'LINC02289', 'score': 0.34}, {'connected_gene': 'ENSG00000258473', 'score': 0.29}]
chr14 GH14I077050 77050602 77053947 1.29 [{'connected_gene': 'GC14P077053', 'score': 550.77}, {'connected_gene': 'IRF2BPL', 'score': 12.73}, {'connected_gene': 'CIPC', 'score': 10.82}, {'connected_gene': 'LINC02288', 'score': 5.59}, {'connected_gene': 'ENSG00000258473', 'score': 0.29}]
chr14 GH14I076899 76899517 76899630 0.22 [{'connected_gene': 'PIR46005', 'score': 550.77}, {'connected_gene': 'IRF2BPL', 'score': 11.27}, {'connected_gene': 'CIPC', 'score': 10.54}, {'connected_gene': 'ENSG00000259058', 'score': 0.31}]
chr14 GH14I076936 76936261 76942850 1.32 [{'connected_gene': 'ENSG00000243225', 'score': 14.38}, {'connected_gene': 'IRF2BPL', 'score': 12.4}, {'connected_gene': 'LINC01629', 'score': 11.89}, {'connected_gene': 'SNW1', 'score': 7.86}, {'connected_gene': 'ENSG00000259058', 'score': 0.39}]
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 GH14I076984 76984258 76987074 1.04 [{'connected_gene': 'GC14M076985', 'score': 550.77}, {'connected_gene': 'LINC01629', 'score': 13.52}, {'connected_gene': 'IRF2BPL', 'score': 12.16}, {'connected_gene': 'ENSG00000243225', 'score': 0.37}]

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