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
ENST00000451429 [[26560690, 26560801], [26566252, 26566329], [26581661, 26582356], [26584087, 26584221], [26584633, 26584751], [26586107, 26586293], [26594973, 26595126], [26595950, 26596105], [26597504, 26597598], [26598511, 26598562], [26601454, 26601562], [26603025, 26603251], [26603623, 26604178]] [[26566274, 26566329], [26581661, 26582356], [26584087, 26584221], [26584633, 26584751], [26586107, 26586293], [26594973, 26595126], [26595950, 26596105], [26597504, 26597598], [26598511, 26598562], [26601454, 26601562], [26603025, 26603251], [26603623, 26603784]]
ENST00000476272 [[26560690, 26560801], [26566252, 26566329], [26570656, 26570809], [26581661, 26582356], [26584087, 26584221], [26584633, 26584751], [26586107, 26586293], [26594973, 26595126], [26595950, 26596105], [26597504, 26597598], [26598511, 26598562], [26601454, 26601562], [26603025, 26603251], [26603626, 26604753], [26605178, 26605297]] [[26566274, 26566329], [26570656, 26570809], [26581661, 26582356], [26584087, 26584221], [26584633, 26584751], [26586107, 26586293], [26594973, 26595126], [26595950, 26596105], [26597504, 26597598], [26598511, 26598562], [26601454, 26601562], [26603025, 26603251], [26603626, 26603784]]
ENST00000252992 [[26560692, 26560801], [26566252, 26566329], [26570656, 26570809], [26581661, 26582356], [26584087, 26584221], [26584633, 26584751], [26586107, 26586293], [26594973, 26595126], [26595950, 26596105], [26597504, 26597598], [26598511, 26598562], [26601454, 26601562], [26603025, 26603251], [26603623, 26605299]] [[26566274, 26566329], [26570656, 26570809], [26581661, 26582356], [26584087, 26584221], [26584633, 26584751], [26586107, 26586293], [26594973, 26595126], [26595950, 26596105], [26597504, 26597598], [26598511, 26598562], [26601454, 26601562], [26603025, 26603251], [26603623, 26603784]]
ENST00000480446 [[26581068, 26581323], [26581661, 26581841]] None
ENST00000453146 [[26584163, 26584221], [26584633, 26584751], [26586107, 26586293], [26594973, 26595126], [26595950, 26596105], [26597504, 26597598], [26598511, 26598562], [26601454, 26601562], [26603025, 26603251], [26603626, 26605298]] [[26584163, 26584221], [26584633, 26584751], [26586107, 26586293], [26594973, 26595126], [26595950, 26596105], [26597504, 26597598], [26598511, 26598562], [26601454, 26601562], [26603025, 26603251], [26603626, 26603784]]
ENST00000469609 [[26595780, 26595855], [26595950, 26596105], [26597504, 26597598], [26598511, 26598562], [26601454, 26601562], [26603025, 26603251], [26603623, 26605298]] None
ENST00000468163 [[26597518, 26597598], [26598511, 26598884]] None
ENST00000491670 [[26597955, 26598562], [26601454, 26601562], [26603025, 26603251]] None
NM_001281517 [[26560643, 26560801], [26566252, 26566329], [26581661, 26582356], [26584087, 26584221], [26584633, 26584751], [26586107, 26586293], [26594973, 26595126], [26595950, 26596105], [26597504, 26597598], [26598511, 26598562], [26601454, 26601562], [26603025, 26603251], [26603623, 26605301]] [[26566274, 26566329], [26581661, 26582356], [26584087, 26584221], [26584633, 26584751], [26586107, 26586293], [26594973, 26595126], [26595950, 26596105], [26597504, 26597598], [26598511, 26598562], [26601454, 26601562], [26603025, 26603251], [26603623, 26603784]]
NM_001319944 [[26560643, 26560801], [26566252, 26566329], [26570656, 26570809], [26581661, 26582356], [26584087, 26584221], [26584633, 26584751], [26586107, 26586293], [26594973, 26595126], [26595950, 26596105], [26597504, 26597598], [26598511, 26598562], [26601454, 26601562], [26603025, 26603251], [26603626, 26605301]] [[26566274, 26566329], [26570656, 26570809], [26581661, 26582356], [26584087, 26584221], [26584633, 26584751], [26586107, 26586293], [26594973, 26595126], [26595950, 26596105], [26597504, 26597598], [26598511, 26598562], [26601454, 26601562], [26603025, 26603251], [26603626, 26603784]]
NM_022778 [[26560643, 26560801], [26566252, 26566329], [26570656, 26570809], [26581661, 26582356], [26584087, 26584221], [26584633, 26584751], [26586107, 26586293], [26594973, 26595126], [26595950, 26596105], [26597504, 26597598], [26598511, 26598562], [26601454, 26601562], [26603025, 26603251], [26603623, 26605301]] [[26566274, 26566329], [26570656, 26570809], [26581661, 26582356], [26584087, 26584221], [26584633, 26584751], [26586107, 26586293], [26594973, 26595126], [26595950, 26596105], [26597504, 26597598], [26598511, 26598562], [26601454, 26601562], [26603025, 26603251], [26603623, 26603784]]
NM_001281518 [[26595773, 26595855], [26595950, 26596105], [26597504, 26597598], [26598511, 26598562], [26601454, 26601562], [26603025, 26603251], [26603623, 26605301]] [[26597559, 26597598], [26598511, 26598562], [26601454, 26601562], [26603025, 26603251], [26603623, 26603784]]
Promoter
Chrom Start End Description
chr1 26560649 26560675 CAGE_peak_2_at_CEP85_5end
chr1 26560676 26560725 CAGE_peak_1_at_CEP85_5end
chr1 26581079 26581092 CAGE_peak_4_at_CEP85_5end
chr1 26581105 26581121 CAGE_peak_3_at_CEP85_5end
chr1 26595752 26595776 CAGE_peak_5_at_CEP85_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I026305 26305555 26309601 2.03 [{'connected_gene': 'UBXN11', 'score': 560.68}, {'connected_gene': 'ARID1A', 'score': 35.41}, {'connected_gene': 'HMGN2', 'score': 28.22}, {'connected_gene': 'LOC101928324', 'score': 18.68}, {'connected_gene': 'CD52', 'score': 18.46}, {'connected_gene': 'RPL17P9', 'score': 12.0}, {'connected_gene': 'NPM1P39', 'score': 11.79}, {'connected_gene': 'CEP85', 'score': 10.89}, {'connected_gene': 'FAM110D', 'score': 7.58}, {'connected_gene': 'CNKSR1', 'score': 6.51}, {'connected_gene': 'SH3BGRL3', 'score': 0.31}]
chr1 GH01I026259 26259201 26260093 0.31 [{'connected_gene': 'UBXN11', 'score': 11.27}, {'connected_gene': 'CD52', 'score': 11.27}, {'connected_gene': 'ZNF593', 'score': 10.29}, {'connected_gene': 'ENSG00000236782', 'score': 10.29}, {'connected_gene': 'LIN28A', 'score': 10.05}, {'connected_gene': 'FAM110D', 'score': 10.0}, {'connected_gene': 'TRIM63', 'score': 9.48}, {'connected_gene': 'HMGN2', 'score': 8.92}, {'connected_gene': 'PIR61351', 'score': 0.77}, {'connected_gene': 'MRPS6P1', 'score': 0.77}, {'connected_gene': 'CEP85', 'score': 0.31}]
chr1 GH01I026274 26274321 26293466 2.81 [{'connected_gene': 'SH3BGRL3', 'score': 553.26}, {'connected_gene': 'HMGN2', 'score': 63.5}, {'connected_gene': 'ARID1A', 'score': 57.37}, {'connected_gene': 'CD52', 'score': 38.95}, {'connected_gene': 'LOC101928324', 'score': 30.09}, {'connected_gene': 'NPM1P39', 'score': 29.55}, {'connected_gene': 'UBXN11', 'score': 28.89}, {'connected_gene': 'CEP85', 'score': 23.48}, {'connected_gene': 'GPN2', 'score': 21.79}, {'connected_gene': 'LIN28A', 'score': 21.36}, {'connected_gene': 'TRIM63', 'score': 18.25}, {'connected_gene': 'FAM110D', 'score': 17.18}, {'connected_gene': 'SELENON', 'score': 11.96}, {'connected_gene': 'CRYBG2', 'score': 11.09}, {'connected_gene': 'CNKSR1', 'score': 11.05}, {'connected_gene': 'RPS6KA1', 'score': 10.99}, {'connected_gene': 'LOC101928728', 'score': 10.8}, {'connected_gene': 'RPL17P9', 'score': 10.77}, {'connected_gene': 'RSRP1', 'score': 10.43}, {'connected_gene': 'ZNF593', 'score': 9.87}, {'connected_gene': 'ENSG00000236782', 'score': 9.87}, {'connected_gene': 'MTFR1L', 'score': 3.37}, {'connected_gene': 'PDIK1L', 'score': 2.4}, {'connected_gene': 'PIGV', 'score': 1.51}, {'connected_gene': 'PIR48459', 'score': 0.44}]
chr1 GH01I026121 26121368 26129096 1.77 [{'connected_gene': 'ARID1A', 'score': 80.27}, {'connected_gene': 'HMGN2', 'score': 65.22}, {'connected_gene': 'LOC101928324', 'score': 53.24}, {'connected_gene': 'ENSG00000261349', 'score': 41.21}, {'connected_gene': 'TRIM63', 'score': 37.76}, {'connected_gene': 'SYF2', 'score': 32.28}, {'connected_gene': 'GPN2', 'score': 30.56}, {'connected_gene': 'ZNF593', 'score': 29.32}, {'connected_gene': 'LOC101928728', 'score': 23.9}, {'connected_gene': 'RPL17P9', 'score': 21.54}, {'connected_gene': 'FAM110D', 'score': 12.58}, {'connected_gene': 'PDIK1L', 'score': 11.67}, {'connected_gene': 'GPATCH3', 'score': 11.42}, {'connected_gene': 'ENSG00000236782', 'score': 11.31}, {'connected_gene': 'SLC30A2', 'score': 10.69}, {'connected_gene': 'PIGV', 'score': 10.45}, {'connected_gene': 'EXTL1', 'score': 10.14}, {'connected_gene': 'STMN1', 'score': 9.99}, {'connected_gene': 'CNKSR1', 'score': 6.54}, {'connected_gene': 'UBXN11', 'score': 4.33}, {'connected_gene': 'PAFAH2', 'score': 4.26}, {'connected_gene': 'CD52', 'score': 3.47}, {'connected_gene': 'RPS6KA1', 'score': 2.87}, {'connected_gene': 'CEP85', 'score': 2.12}, {'connected_gene': 'MTFR1L', 'score': 1.28}, {'connected_gene': 'LOC105376886', 'score': 0.77}]
chr1 GH01I026691 26690601 26703514 3.32 [{'connected_gene': 'ARID1A', 'score': 632.61}, {'connected_gene': 'LOC101928728', 'score': 580.15}, {'connected_gene': 'HMGN2', 'score': 78.07}, {'connected_gene': 'ACTG1P20', 'score': 43.91}, {'connected_gene': 'PIGV', 'score': 39.6}, {'connected_gene': 'LOC101928324', 'score': 37.34}, {'connected_gene': 'GPN2', 'score': 28.12}, {'connected_gene': 'GPATCH3', 'score': 24.89}, {'connected_gene': 'TMEM222', 'score': 22.69}, {'connected_gene': 'RPL17P9', 'score': 20.91}, {'connected_gene': 'NPM1P39', 'score': 18.08}, {'connected_gene': 'ZNF593', 'score': 13.56}, {'connected_gene': 'SFN', 'score': 10.75}, {'connected_gene': 'AHDC1', 'score': 10.73}, {'connected_gene': 'MAP3K6', 'score': 10.67}, {'connected_gene': 'ENSG00000226698', 'score': 10.59}, {'connected_gene': 'WASF2', 'score': 10.4}, {'connected_gene': 'RPS6KA1', 'score': 10.19}, {'connected_gene': 'NUDC', 'score': 10.07}, {'connected_gene': 'ZDHHC18', 'score': 8.32}, {'connected_gene': 'OSTCP2', 'score': 5.6}, {'connected_gene': 'TRNP1', 'score': 5.12}, {'connected_gene': 'KDF1', 'score': 4.41}, {'connected_gene': 'SLC9A1', 'score': 1.29}, {'connected_gene': 'CEP85', 'score': 1.12}, {'connected_gene': 'GC01M026693', 'score': 0.77}, {'connected_gene': 'LOC105376888', 'score': 0.39}, {'connected_gene': 'GC01P026765', 'score': 0.2}]
chr1 GH01I026408 26408561 26420940 1.95 [{'connected_gene': 'LIN28A', 'score': 550.77}, {'connected_gene': 'HMGN2', 'score': 30.37}, {'connected_gene': 'ARID1A', 'score': 19.3}, {'connected_gene': 'ACTG1P20', 'score': 14.96}, {'connected_gene': 'ZNF683', 'score': 10.97}, {'connected_gene': 'RPL17P9', 'score': 10.94}, {'connected_gene': 'UBXN11', 'score': 10.34}, {'connected_gene': 'CD52', 'score': 10.34}, {'connected_gene': 'GPN2', 'score': 10.21}, {'connected_gene': 'NPM1P39', 'score': 10.13}, {'connected_gene': 'ZNF593', 'score': 9.83}, {'connected_gene': 'ENSG00000236782', 'score': 9.83}, {'connected_gene': 'FAM110D', 'score': 9.77}, {'connected_gene': 'RPS6KA1', 'score': 9.35}, {'connected_gene': 'SLC30A2', 'score': 9.29}, {'connected_gene': 'EXTL1', 'score': 8.71}, {'connected_gene': 'DHDDS', 'score': 7.92}, {'connected_gene': 'NUDC', 'score': 5.9}, {'connected_gene': 'CEP85', 'score': 4.3}]
chr1 GH01I026233 26233430 26235740 2.06 [{'connected_gene': 'CEP85', 'score': 562.64}, {'connected_gene': 'ARID1A', 'score': 51.7}, {'connected_gene': 'HMGN2', 'score': 34.8}, {'connected_gene': 'CD52', 'score': 28.25}, {'connected_gene': 'ZNF593', 'score': 24.37}, {'connected_gene': 'NPM1P39', 'score': 24.13}, {'connected_gene': 'UBXN11', 'score': 17.46}, {'connected_gene': 'ENSG00000261349', 'score': 15.59}, {'connected_gene': 'LOC101928324', 'score': 13.12}, {'connected_gene': 'LOC101928728', 'score': 12.29}, {'connected_gene': 'ENSG00000236782', 'score': 10.84}, {'connected_gene': 'RPL17P9', 'score': 10.75}, {'connected_gene': 'FAM110D', 'score': 10.5}, {'connected_gene': 'RSRP1', 'score': 10.44}, {'connected_gene': 'GPN2', 'score': 10.2}, {'connected_gene': 'PIR61351', 'score': 0.34}]
chr1 GH01I026348 26348810 26361055 2.18 [{'connected_gene': 'CRYBG2', 'score': 564.12}, {'connected_gene': 'CD52', 'score': 20.75}, {'connected_gene': 'UBXN11', 'score': 19.1}, {'connected_gene': 'CEP85', 'score': 16.9}, {'connected_gene': 'CNKSR1', 'score': 14.27}, {'connected_gene': 'LIN28A', 'score': 11.33}, {'connected_gene': 'DHDDS', 'score': 10.84}, {'connected_gene': 'SLC30A2', 'score': 10.06}, {'connected_gene': 'TRIM63', 'score': 10.03}, {'connected_gene': 'EXTL1', 'score': 9.16}, {'connected_gene': 'FAM110D', 'score': 7.57}, {'connected_gene': 'ZNF683', 'score': 7.44}, {'connected_gene': 'CATSPER4', 'score': 7.11}, {'connected_gene': 'PDIK1L', 'score': 5.57}, {'connected_gene': 'GC01M026348', 'score': 0.44}]
chr1 GH01I026370 26370257 26371359 1.02 [{'connected_gene': 'ZNF683', 'score': 550.77}, {'connected_gene': 'CD52', 'score': 7.61}, {'connected_gene': 'CNKSR1', 'score': 7.54}, {'connected_gene': 'CEP85', 'score': 5.34}, {'connected_gene': 'CRYBG2', 'score': 0.39}]
chr1 GH01I026313 26313987 26322352 2.28 [{'connected_gene': 'CD52', 'score': 570.25}, {'connected_gene': 'UBXN11', 'score': 568.52}, {'connected_gene': 'SH3BGRL3', 'score': 17.54}, {'connected_gene': 'ZNF683', 'score': 11.46}, {'connected_gene': 'CRYBG2', 'score': 11.25}, {'connected_gene': 'LIN28A', 'score': 11.0}, {'connected_gene': 'CEP85', 'score': 10.94}, {'connected_gene': 'ZNF593', 'score': 10.4}, {'connected_gene': 'ENSG00000236782', 'score': 10.4}, {'connected_gene': 'FAM110D', 'score': 9.78}, {'connected_gene': 'LOC101928324', 'score': 9.4}, {'connected_gene': 'TRIM63', 'score': 8.39}, {'connected_gene': 'CNKSR1', 'score': 8.01}, {'connected_gene': 'RPS6KA1', 'score': 2.64}, {'connected_gene': 'MTFR1L', 'score': 1.57}, {'connected_gene': 'HMGN2', 'score': 1.29}]
chr1 GH01I026224 26224824 26226081 1.32 [{'connected_gene': 'CD52', 'score': 14.51}, {'connected_gene': 'FAM110D', 'score': 10.71}, {'connected_gene': 'CEP85', 'score': 10.65}, {'connected_gene': 'ENSG00000236782', 'score': 10.64}, {'connected_gene': 'ZNF593', 'score': 10.63}, {'connected_gene': 'CRYBG2', 'score': 10.63}, {'connected_gene': 'TRIM63', 'score': 9.72}, {'connected_gene': 'EXTL1', 'score': 9.36}, {'connected_gene': 'HMGN2', 'score': 9.07}, {'connected_gene': 'UBXN11', 'score': 7.44}, {'connected_gene': 'LOC100420494', 'score': 0.77}, {'connected_gene': 'LOC101928303', 'score': 0.37}]
chr1 GH01I026300 26300585 26300958 0.31 [{'connected_gene': 'CD52', 'score': 12.9}, {'connected_gene': 'CEP85', 'score': 7.23}, {'connected_gene': 'UBXN11', 'score': 0.37}, {'connected_gene': 'SH3BGRL3', 'score': 0.34}]
chr1 GH01I026236 26236043 26238200 1.07 [{'connected_gene': 'CD52', 'score': 28.63}, {'connected_gene': 'ZNF593', 'score': 25.23}, {'connected_gene': 'HMGN2', 'score': 24.55}, {'connected_gene': 'ARID1A', 'score': 24.01}, {'connected_gene': 'LOC101928324', 'score': 20.67}, {'connected_gene': 'UBXN11', 'score': 17.5}, {'connected_gene': 'ENSG00000261349', 'score': 14.63}, {'connected_gene': 'CEP85', 'score': 13.61}, {'connected_gene': 'RPL17P9', 'score': 12.5}, {'connected_gene': 'GPN2', 'score': 11.46}, {'connected_gene': 'ENSG00000236782', 'score': 11.32}, {'connected_gene': 'FAM110D', 'score': 10.62}, {'connected_gene': 'CRYBG2', 'score': 10.31}, {'connected_gene': 'TRIM63', 'score': 10.24}, {'connected_gene': 'CNKSR1', 'score': 6.71}, {'connected_gene': 'PIR61351', 'score': 0.37}]
chr1 GH01I026499 26499764 26502597 1.86 [{'connected_gene': 'LOC101928324', 'score': 23.17}, {'connected_gene': 'ARID1A', 'score': 21.9}, {'connected_gene': 'GPATCH3', 'score': 21.1}, {'connected_gene': 'DHDDS', 'score': 14.76}, {'connected_gene': 'RPS6KA1', 'score': 13.61}, {'connected_gene': 'NPM1P39', 'score': 12.95}, {'connected_gene': 'LOC101928728', 'score': 12.47}, {'connected_gene': 'PIGV', 'score': 11.97}, {'connected_gene': 'HMGN2', 'score': 11.76}, {'connected_gene': 'MIR1976', 'score': 11.32}, {'connected_gene': 'MAP3K6', 'score': 9.93}, {'connected_gene': 'PAQR7', 'score': 9.87}, {'connected_gene': 'ENSG00000226698', 'score': 9.71}, {'connected_gene': 'LIN28A', 'score': 9.49}, {'connected_gene': 'NUDC', 'score': 9.32}, {'connected_gene': 'CEP85', 'score': 1.75}, {'connected_gene': 'UBXN11', 'score': 1.69}, {'connected_gene': 'PDIK1L', 'score': 1.17}, {'connected_gene': 'GC01M026522', 'score': 0.37}, {'connected_gene': 'PIR42462', 'score': 0.31}]
chr1 GH01I026220 26220601 26220800 0.56 [{'connected_gene': 'LOC100420494', 'score': 550.77}, {'connected_gene': 'FAM110D', 'score': 10.72}, {'connected_gene': 'ENSG00000236782', 'score': 10.66}, {'connected_gene': 'ZNF593', 'score': 10.64}, {'connected_gene': 'CRYBG2', 'score': 10.63}, {'connected_gene': 'TRIM63', 'score': 9.72}, {'connected_gene': 'CD52', 'score': 9.55}, {'connected_gene': 'UBXN11', 'score': 7.43}, {'connected_gene': 'CEP85', 'score': 0.39}, {'connected_gene': 'LOC101928303', 'score': 0.39}]
chr1 GH01I025706 25706166 25712574 1.26 [{'connected_gene': 'ENSG00000233478', 'score': 11.76}, {'connected_gene': 'SELENON', 'score': 10.92}, {'connected_gene': 'RHD', 'score': 5.99}, {'connected_gene': 'TRIM63', 'score': 5.47}, {'connected_gene': 'MAN1C1', 'score': 5.17}, {'connected_gene': 'CEP85', 'score': 4.1}, {'connected_gene': 'GC01P025766', 'score': 0.22}]

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