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
ENST00000441478 [[110012498, 110012704], [110036280, 110036379], [110053839, 110053890], [110056352, 110056501], [110064877, 110064975], [110081452, 110081586], [110083293, 110083410], [110085139, 110085185], [110086215, 110086364], [110087931, 110088098], [110098124, 110098263], [110106172, 110106231], [110107504, 110107652], [110110796, 110110880], [110112578, 110112774], [110113784, 110113867], [110146290, 110146627]] [[110036371, 110036379], [110053839, 110053890], [110056352, 110056501], [110064877, 110064975], [110081452, 110081586], [110083293, 110083410], [110085139, 110085185], [110086215, 110086364], [110087931, 110088098], [110098124, 110098263], [110106172, 110106231], [110107504, 110107652], [110110796, 110110880], [110112578, 110112774], [110113784, 110113867], [110146290, 110146468]]
ENST00000230124 [[110012514, 110012704], [110036280, 110036379], [110037647, 110037771], [110048311, 110048468], [110053839, 110053890], [110056352, 110056501], [110059527, 110059656], [110062646, 110062747], [110064312, 110064475], [110064877, 110064975], [110081452, 110081586], [110083293, 110083410], [110085139, 110085185], [110086215, 110086364], [110087931, 110088098], [110098124, 110098263], [110106172, 110106231], [110107504, 110107652], [110110796, 110110880], [110112578, 110112774], [110113784, 110113867], [110117967, 110118054], [110146290, 110146631]] [[110012638, 110012704], [110036280, 110036379], [110037647, 110037771], [110048311, 110048468], [110053839, 110053890], [110056352, 110056501], [110059527, 110059656], [110062646, 110062747], [110064312, 110064475], [110064877, 110064975], [110081452, 110081586], [110083293, 110083410], [110085139, 110085185], [110086215, 110086364], [110087931, 110088098], [110098124, 110098263], [110106172, 110106231], [110107504, 110107652], [110110796, 110110880], [110112578, 110112774], [110113784, 110113867], [110117967, 110118054], [110146290, 110146468]]
ENST00000415980 [[110087931, 110088098], [110098124, 110098263], [110106172, 110106231], [110106873, 110106947]] [[110087931, 110088098], [110098124, 110098263], [110106172, 110106231], [110106873, 110106917]]
ENST00000454215 [[110022922, 110022925], [110036280, 110036379], [110037647, 110037771], [110048311, 110048468], [110053839, 110053890], [110056352, 110056501], [110059527, 110059656]] [[110022922, 110022925], [110036280, 110036379], [110037647, 110037771], [110048311, 110048468], [110053839, 110053890], [110056352, 110056501], [110059527, 110059656]]
ENST00000368941 [[110037708, 110037771], [110048311, 110048468], [110053839, 110053890], [110056352, 110056501], [110064312, 110064683]] [[110037713, 110037771], [110048311, 110048468], [110053839, 110053890], [110056352, 110056501], [110064312, 110064317]]
ENST00000419951 [[110107208, 110107652], [110110796, 110110880], [110112578, 110112774]] [[110107635, 110107652], [110110796, 110110880], [110112578, 110112774]]
NM_014845 [[110012423, 110012704], [110036280, 110036379], [110037647, 110037771], [110048311, 110048468], [110053839, 110053890], [110056352, 110056501], [110059527, 110059656], [110062646, 110062747], [110064312, 110064475], [110064877, 110064975], [110081452, 110081586], [110083293, 110083410], [110085139, 110085185], [110086215, 110086364], [110087931, 110088098], [110098124, 110098263], [110106172, 110106231], [110107504, 110107652], [110110796, 110110880], [110112578, 110112774], [110113784, 110113867], [110117967, 110118054], [110146290, 110146634]] [[110012638, 110012704], [110036280, 110036379], [110037647, 110037771], [110048311, 110048468], [110053839, 110053890], [110056352, 110056501], [110059527, 110059656], [110062646, 110062747], [110064312, 110064475], [110064877, 110064975], [110081452, 110081586], [110083293, 110083410], [110085139, 110085185], [110086215, 110086364], [110087931, 110088098], [110098124, 110098263], [110106172, 110106231], [110107504, 110107652], [110110796, 110110880], [110112578, 110112774], [110113784, 110113867], [110117967, 110118054], [110146290, 110146468]]
Promoter
Chrom Start End Description
chr6 110012462 110012525 CAGE_peak_1_at_FIG4_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I109705 109705298 109705467 0.83 [{'connected_gene': 'ZBTB24', 'score': 9.97}, {'connected_gene': 'LOC105377935', 'score': 9.97}, {'connected_gene': 'FIG4', 'score': 0.39}, {'connected_gene': 'GC06M109753', 'score': 0.25}]
chr6 GH06I109697 109697200 109697631 0.75 [{'connected_gene': 'ZBTB24', 'score': 10.65}, {'connected_gene': 'LOC105377935', 'score': 10.65}, {'connected_gene': 'FIG4', 'score': 0.44}, {'connected_gene': 'GC06M109753', 'score': 0.22}]
chr6 GH06I109701 109701202 109702198 0.31 [{'connected_gene': 'ZBTB24', 'score': 10.66}, {'connected_gene': 'LOC105377935', 'score': 10.66}, {'connected_gene': 'FIG4', 'score': 0.39}, {'connected_gene': 'GC06M109753', 'score': 0.23}]
chr6 GH06I110178 110178400 110182583 2.34 [{'connected_gene': 'WASF1', 'score': 568.91}, {'connected_gene': 'CDC40', 'score': 555.04}, {'connected_gene': 'ZBTB24', 'score': 24.5}, {'connected_gene': 'CD164', 'score': 11.12}, {'connected_gene': 'SMPD2', 'score': 10.9}, {'connected_gene': 'CNN2P9', 'score': 10.12}, {'connected_gene': 'FIG4', 'score': 1.54}]
chr6 GH06I109508 109508191 109508857 0.43 [{'connected_gene': 'SMPD2', 'score': 13.34}, {'connected_gene': 'FIG4', 'score': 4.53}, {'connected_gene': 'ZBTB24', 'score': 0.31}, {'connected_gene': 'AK9', 'score': 0.09}]
chr6 GH06I109743 109743747 109744496 0.38 [{'connected_gene': 'SMPD2', 'score': 10.92}, {'connected_gene': 'FIG4', 'score': 10.07}, {'connected_gene': 'GC06M109753', 'score': 0.44}]
chr6 GH06I109424 109424261 109425247 0.77 [{'connected_gene': 'SMPD2', 'score': 22.1}, {'connected_gene': 'ENSG00000260273', 'score': 14.25}, {'connected_gene': 'ZBTB24', 'score': 10.96}, {'connected_gene': 'CEP57L1', 'score': 10.76}, {'connected_gene': 'FIG4', 'score': 5.6}, {'connected_gene': 'PPIL6', 'score': 0.37}, {'connected_gene': 'PIR52905', 'score': 0.28}, {'connected_gene': 'GC06P109389', 'score': 0.28}]
chr6 GH06I109771 109771208 109773820 1.34 [{'connected_gene': 'SMPD2', 'score': 14.04}, {'connected_gene': 'ZBTB24', 'score': 10.8}, {'connected_gene': 'CEP57L1', 'score': 10.73}, {'connected_gene': 'FIG4', 'score': 10.11}, {'connected_gene': 'ENSG00000260273', 'score': 9.97}, {'connected_gene': 'CCDC162P', 'score': 8.49}, {'connected_gene': 'MICAL1', 'score': 3.23}, {'connected_gene': 'CDC40', 'score': 1.78}, {'connected_gene': 'AK9', 'score': 1.48}, {'connected_gene': 'CD164', 'score': 1.25}, {'connected_gene': 'GC06M109753', 'score': 0.37}, {'connected_gene': 'ENSG00000232311', 'score': 0.23}]
chr6 GH06I109343 109343546 109345007 0.77 [{'connected_gene': 'SMPD2', 'score': 21.85}, {'connected_gene': 'ENSG00000260273', 'score': 11.62}, {'connected_gene': 'MICAL1', 'score': 9.28}, {'connected_gene': 'FIG4', 'score': 5.9}, {'connected_gene': 'LOC101927538', 'score': 0.44}, {'connected_gene': 'RPL7P28', 'score': 0.37}, {'connected_gene': 'CCDC162P', 'score': 0.1}]
chr6 GH06I109438 109438892 109442315 2.03 [{'connected_gene': 'SMPD2', 'score': 582.21}, {'connected_gene': 'PPIL6', 'score': 550.77}, {'connected_gene': 'ZBTB24', 'score': 26.73}, {'connected_gene': 'ENSG00000260273', 'score': 13.0}, {'connected_gene': 'AK9', 'score': 10.5}, {'connected_gene': 'MICAL1', 'score': 5.65}, {'connected_gene': 'FIG4', 'score': 5.18}, {'connected_gene': 'PIR52905', 'score': 0.23}, {'connected_gene': 'GC06P109389', 'score': 0.23}]
chr6 GH06I109706 109706601 109707000 0.2 [{'connected_gene': 'SMPD2', 'score': 21.09}, {'connected_gene': 'AK9', 'score': 14.89}, {'connected_gene': 'ZBTB24', 'score': 9.97}, {'connected_gene': 'LOC105377935', 'score': 9.97}, {'connected_gene': 'FIG4', 'score': 0.37}, {'connected_gene': 'GC06M109753', 'score': 0.25}]
chr6 GH06I109453 109453244 109461075 2.67 [{'connected_gene': 'MICAL1', 'score': 567.49}, {'connected_gene': 'SMPD2', 'score': 25.09}, {'connected_gene': 'ZBTB24', 'score': 23.32}, {'connected_gene': 'METTL24', 'score': 13.62}, {'connected_gene': 'ENSG00000260273', 'score': 13.29}, {'connected_gene': 'LOC105377935', 'score': 11.31}, {'connected_gene': 'FOXO3', 'score': 9.8}, {'connected_gene': 'FIG4', 'score': 4.91}, {'connected_gene': 'PPIL6', 'score': 2.34}, {'connected_gene': 'CD164', 'score': 2.08}, {'connected_gene': 'PIR52480', 'score': 0.77}]
chr6 GH06I109891 109891246 109895555 1.05 [{'connected_gene': 'PPIL6', 'score': 6.12}, {'connected_gene': 'LOC105377938', 'score': 5.24}, {'connected_gene': 'FIG4', 'score': 2.24}, {'connected_gene': 'MICAL1', 'score': 1.86}, {'connected_gene': 'AK9', 'score': 1.59}, {'connected_gene': 'SMPD2', 'score': 1.31}, {'connected_gene': 'PIR51283', 'score': 0.39}, {'connected_gene': 'GPR6', 'score': 0.18}]
chr6 GH06I109690 109690000 109692201 2 [{'connected_gene': 'AK9', 'score': 565.51}, {'connected_gene': 'FIG4', 'score': 550.77}, {'connected_gene': 'SMPD2', 'score': 31.13}, {'connected_gene': 'ZBTB24', 'score': 14.56}, {'connected_gene': 'ENSG00000260273', 'score': 12.23}]
chr6 GH06I109767 109767904 109768882 0.2 [{'connected_gene': 'AK9', 'score': 13.64}, {'connected_gene': 'ENSG00000260273', 'score': 12.53}, {'connected_gene': 'FIG4', 'score': 10.05}, {'connected_gene': 'GC06M109753', 'score': 0.37}, {'connected_gene': 'ENSG00000232311', 'score': 0.22}]
chr6 GH06I109735 109735857 109737080 0.38 [{'connected_gene': 'AK9', 'score': 13.7}, {'connected_gene': 'GC06M109753', 'score': 0.37}, {'connected_gene': 'FIG4', 'score': 0.25}]
chr6 GH06I109702 109702401 109703001 0.38 [{'connected_gene': 'AK9', 'score': 14.92}, {'connected_gene': 'FIG4', 'score': 0.39}, {'connected_gene': 'GC06M109753', 'score': 0.23}]
chr6 GH06I109792 109792962 109795447 1.02 [{'connected_gene': 'CCDC162P', 'score': 4.93}, {'connected_gene': 'ENSG00000232311', 'score': 0.29}, {'connected_gene': 'GC06M109753', 'score': 0.26}, {'connected_gene': 'FIG4', 'score': 0.15}]
chr6 GH06I109349 109349128 109352487 1.49 [{'connected_gene': 'LOC101927538', 'score': 550.77}, {'connected_gene': 'SMPD2', 'score': 19.36}, {'connected_gene': 'ENSG00000260273', 'score': 15.51}, {'connected_gene': 'CD164', 'score': 12.21}, {'connected_gene': 'ENSG00000233908', 'score': 11.92}, {'connected_gene': 'PTCHD3P3', 'score': 11.92}, {'connected_gene': 'CCDC162P', 'score': 11.8}, {'connected_gene': 'MICAL1', 'score': 10.55}, {'connected_gene': 'FIG4', 'score': 4.16}, {'connected_gene': 'RPL7P28', 'score': 0.34}]
chr6 GH06I109334 109334538 109335889 0.2 [{'connected_gene': 'PTCHD3P3', 'score': 11.66}, {'connected_gene': 'ENSG00000233908', 'score': 11.65}, {'connected_gene': 'CCDC162P', 'score': 11.5}, {'connected_gene': 'CD164', 'score': 11.17}, {'connected_gene': 'FIG4', 'score': 4.14}, {'connected_gene': 'RPL7P28', 'score': 0.44}, {'connected_gene': 'LOC101927538', 'score': 0.37}]
chr6 GH06I109772 109771001 109771200 0.2 [{'connected_gene': 'GC06M109753', 'score': 0.37}, {'connected_gene': 'ENSG00000232311', 'score': 0.22}, {'connected_gene': 'FIG4', 'score': 0.18}]
chr6 GH06I109789 109789887 109791746 0.51 [{'connected_gene': 'ENSG00000232311', 'score': 0.28}, {'connected_gene': 'GC06M109753', 'score': 0.28}, {'connected_gene': 'FIG4', 'score': 0.15}]
chr6 GH06I109379 109379218 109385489 2.33 [{'connected_gene': 'ENSG00000260273', 'score': 565.43}, {'connected_gene': 'CD164', 'score': 550.77}, {'connected_gene': 'ZBTB24', 'score': 52.31}, {'connected_gene': 'SMPD2', 'score': 32.79}, {'connected_gene': 'MICAL1', 'score': 13.55}, {'connected_gene': 'AK9', 'score': 12.44}, {'connected_gene': 'PPIL6', 'score': 11.82}, {'connected_gene': 'ENSG00000233908', 'score': 10.45}, {'connected_gene': 'PTCHD3P3', 'score': 10.45}, {'connected_gene': 'CCDC162P', 'score': 10.37}, {'connected_gene': 'LOC105377935', 'score': 10.11}, {'connected_gene': 'CDC40', 'score': 9.86}, {'connected_gene': 'ENSG00000271730', 'score': 9.69}, {'connected_gene': 'FIG4', 'score': 5.38}, {'connected_gene': 'LOC101927538', 'score': 0.29}]