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
ENST00000506538 [[110427413, 110428316], [110430617, 110430645], [110432776, 110432877], [110434419, 110434537], [110436287, 110436420], [110438043, 110438098], [110439484, 110439617], [110439875, 110440051], [110440395, 110440516], [110440993, 110441059], [110441755, 110441842], [110442992, 110443138], [110445887, 110446002], [110446486, 110446652], [110446868, 110446977], [110448772, 110448852], [110454710, 110454818], [110456193, 110456291], [110456693, 110456839], [110459502, 110459622], [110459805, 110459887], [110461305, 110461493], [110462431, 110466200]] [[110427986, 110428316], [110430617, 110430645], [110432776, 110432877], [110434419, 110434537], [110436287, 110436420], [110438043, 110438098], [110439484, 110439617], [110439875, 110440051], [110440395, 110440516], [110440993, 110441059], [110441755, 110441842], [110442992, 110443138], [110445887, 110446002], [110446486, 110446652], [110446868, 110446977], [110448772, 110448852], [110454710, 110454818], [110456193, 110456291], [110456693, 110456839], [110459502, 110459622], [110459805, 110459887], [110461305, 110461493], [110462431, 110462581]]
ENST00000513710 [[110427982, 110428316], [110430617, 110430645], [110432776, 110432877], [110434419, 110434537], [110436287, 110436420], [110438043, 110438098], [110439484, 110439617], [110439875, 110440051], [110440395, 110440516], [110440993, 110441059], [110441755, 110441842], [110442992, 110443138], [110445887, 110446002], [110446486, 110446652], [110446868, 110446977], [110448772, 110448852], [110454710, 110454818], [110456193, 110456291], [110456693, 110456839], [110459502, 110459622], [110459805, 110459887], [110461305, 110461493], [110462431, 110462643]] [[110427986, 110428316], [110430617, 110430645], [110432776, 110432877], [110434419, 110434537], [110436287, 110436420], [110438043, 110438098], [110439484, 110439617], [110439875, 110440051], [110440395, 110440516], [110440993, 110441059], [110441755, 110441842], [110442992, 110443138], [110445887, 110446002], [110446486, 110446652], [110446868, 110446977], [110448772, 110448852], [110454710, 110454818], [110456193, 110456291], [110456693, 110456839], [110459502, 110459622], [110459805, 110459887], [110461305, 110461493], [110462431, 110462581]]
ENST00000505303 [[110428018, 110428316], [110430617, 110430645], [110432776, 110432877], [110434419, 110434537], [110436287, 110436420], [110438043, 110438098], [110439484, 110439617], [110439875, 110440051], [110440395, 110440516], [110440993, 110441059], [110441755, 110441842], [110442992, 110443138], [110445887, 110446002], [110446486, 110446652], [110446868, 110447251]] [[110428154, 110428316], [110430617, 110430645], [110432776, 110432877], [110434419, 110434537], [110436287, 110436420], [110438043, 110438098], [110439484, 110439617], [110439875, 110440051], [110440395, 110440516], [110440993, 110441059], [110441755, 110441842], [110442992, 110443138], [110445887, 110446002], [110446486, 110446652], [110446868, 110447007]]
ENST00000515784 [[110428044, 110428316], [110430617, 110430907]] None
ENST00000504122 [[110432704, 110432877], [110434419, 110434537], [110436287, 110436420], [110438043, 110438098], [110439484, 110439559]] [[110432805, 110432877], [110434419, 110434537], [110436287, 110436420], [110438043, 110438098], [110439484, 110439559]]
NM_139281 [[110427869, 110428316], [110430617, 110430645], [110432776, 110432877], [110434419, 110434537], [110436287, 110436420], [110438043, 110438098], [110439484, 110439617], [110439875, 110440051], [110440395, 110440516], [110440993, 110441059], [110441755, 110441842], [110442992, 110443138], [110445887, 110446002], [110446486, 110446652], [110446868, 110446977], [110448772, 110448852], [110454710, 110454818], [110456193, 110456291], [110456693, 110456839], [110459502, 110459622], [110459805, 110459887], [110461305, 110461493], [110462431, 110466200]] [[110427986, 110428316], [110430617, 110430645], [110432776, 110432877], [110434419, 110434537], [110436287, 110436420], [110438043, 110438098], [110439484, 110439617], [110439875, 110440051], [110440395, 110440516], [110440993, 110441059], [110441755, 110441842], [110442992, 110443138], [110445887, 110446002], [110446486, 110446652], [110446868, 110446977], [110448772, 110448852], [110454710, 110454818], [110456193, 110456291], [110456693, 110456839], [110459502, 110459622], [110459805, 110459887], [110461305, 110461493], [110462431, 110462581]]
Promoter
Chrom Start End Description
chr5 110428004 110428087 CAGE_peak_1_at_WDR36_5end
chr5 110428100 110428113 CAGE_peak_2_at_WDR36_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr5 GH05I111753 111753601 111759250 2.45 [{'connected_gene': 'NREP', 'score': 554.38}, {'connected_gene': 'RPS3AP21', 'score': 22.16}, {'connected_gene': 'SNORA13', 'score': 13.11}, {'connected_gene': 'WDR36', 'score': 11.58}, {'connected_gene': 'BCLAF1P1', 'score': 10.0}, {'connected_gene': 'RN7SKP57', 'score': 0.28}, {'connected_gene': 'LOC105379122', 'score': 0.19}]
chr5 GH05I111251 111251913 111255848 1.31 [{'connected_gene': 'TSLP', 'score': 10.38}, {'connected_gene': 'CAMK4', 'score': 8.16}, {'connected_gene': 'WDR36', 'score': 1.28}, {'connected_gene': 'GC05P111246', 'score': 0.44}, {'connected_gene': 'ENSG00000249318', 'score': 0.37}]
chr5 GH05I111133 111133643 111135619 0.43 [{'connected_gene': 'TSLP', 'score': 31.05}, {'connected_gene': 'WDR36', 'score': 11.79}, {'connected_gene': 'GC05P111128', 'score': 0.44}, {'connected_gene': 'GC05M111139', 'score': 0.39}]
chr5 GH05I111136 111136000 111136212 0.51 [{'connected_gene': 'TSLP', 'score': 22.43}, {'connected_gene': 'WDR36', 'score': 8.52}, {'connected_gene': 'GC05P111128', 'score': 0.44}, {'connected_gene': 'GC05M111139', 'score': 0.39}]
chr5 GH05I111072 111072801 111074001 1.92 [{'connected_gene': 'TSLP', 'score': 595.57}, {'connected_gene': 'WDR36', 'score': 0.37}]
chr5 GH05I111071 111071664 111071723 0.61 [{'connected_gene': 'TSLP', 'score': 550.77}, {'connected_gene': 'WDR36', 'score': 0.34}]
chr5 GH05I111069 111069702 111070661 0.49 [{'connected_gene': 'TSLP', 'score': 603.0}, {'connected_gene': 'WDR36', 'score': 0.34}]
chr5 GH05I111074 111074941 111076087 0.6 [{'connected_gene': 'TSLP', 'score': 0.44}, {'connected_gene': 'WDR36', 'score': 0.37}]
chr5 GH05I111117 111117303 111117452 0.38 [{'connected_gene': 'TSLP', 'score': 16.57}, {'connected_gene': 'GC05P111128', 'score': 0.39}, {'connected_gene': 'WDR36', 'score': 0.31}, {'connected_gene': 'ENSG00000253613', 'score': 0.31}]
chr5 GH05I111223 111223320 111239987 2.65 [{'connected_gene': 'CAMK4', 'score': 570.84}, {'connected_gene': 'WDR36', 'score': 16.54}, {'connected_gene': 'RPS3AP21', 'score': 13.33}, {'connected_gene': 'ENSG00000249318', 'score': 11.34}, {'connected_gene': 'TSLP', 'score': 10.43}, {'connected_gene': 'GC05M111236', 'score': 0.44}]
chr5 GH05I111091 111091539 111094169 1.64 [{'connected_gene': 'WDR36', 'score': 650.26}, {'connected_gene': 'ENSG00000253613', 'score': 550.77}, {'connected_gene': 'RPS3AP21', 'score': 60.97}, {'connected_gene': 'TSLP', 'score': 44.81}, {'connected_gene': 'SLC25A46', 'score': 12.64}, {'connected_gene': 'TMEM232', 'score': 10.36}, {'connected_gene': 'BCLAF1P1', 'score': 10.08}, {'connected_gene': 'STARD4-AS1', 'score': 9.69}, {'connected_gene': 'GC05P111128', 'score': 0.28}]
chr5 GH05I111461 111461483 111461672 0.46 [{'connected_gene': 'WDR36', 'score': 4.43}, {'connected_gene': 'STARD4-AS1', 'score': 0.23}, {'connected_gene': 'GC05P111374', 'score': 0.17}, {'connected_gene': 'CAMK4', 'score': 0.07}]
chr5 GH05I111494 111494241 111495546 0.89 [{'connected_gene': 'STARD4', 'score': 4.65}, {'connected_gene': 'CAMK4', 'score': 2.01}, {'connected_gene': 'WDR36', 'score': 1.75}, {'connected_gene': 'STARD4-AS1', 'score': 0.37}, {'connected_gene': 'GC05M111479', 'score': 0.29}, {'connected_gene': 'GC05P111374', 'score': 0.13}]
chr5 GH05I111529 111529746 111531932 1.47 [{'connected_gene': 'STARD4', 'score': 13.25}, {'connected_gene': 'SNORA13', 'score': 13.09}, {'connected_gene': 'RPS3AP21', 'score': 12.44}, {'connected_gene': 'WDR36', 'score': 11.6}, {'connected_gene': 'GC05M111479', 'score': 0.77}, {'connected_gene': 'STARD4-AS1', 'score': 0.37}, {'connected_gene': 'ENSG00000251099', 'score': 0.26}]
chr5 GH05I111502 111502466 111502833 0.24 [{'connected_gene': 'STARD4', 'score': 8.57}, {'connected_gene': 'WDR36', 'score': 2.35}, {'connected_gene': 'CAMK4', 'score': 2.25}, {'connected_gene': 'STARD4-AS1', 'score': 0.44}, {'connected_gene': 'GC05M111479', 'score': 0.31}, {'connected_gene': 'GC05P111374', 'score': 0.13}]
chr5 GH05I111574 111574877 111575160 0.45 [{'connected_gene': 'STARD4', 'score': 51.36}, {'connected_gene': 'WDR36', 'score': 2.12}, {'connected_gene': 'HMGN1P13', 'score': 0.77}, {'connected_gene': 'STARD4-AS1', 'score': 0.21}, {'connected_gene': 'GC05M111608', 'score': 0.16}]
chr5 GH05I111510 111510200 111514518 2.35 [{'connected_gene': 'STARD4', 'score': 576.07}, {'connected_gene': 'STARD4-AS1', 'score': 550.77}, {'connected_gene': 'WDR36', 'score': 1.16}, {'connected_gene': 'GC05M111479', 'score': 0.37}]
chr5 GH05I111453 111453157 111455025 0.97 [{'connected_gene': 'ENSG00000251187', 'score': 9.31}, {'connected_gene': 'EPB41L4A', 'score': 9.31}, {'connected_gene': 'WDR36', 'score': 4.18}, {'connected_gene': 'STARD4-AS1', 'score': 0.22}, {'connected_gene': 'GC05P111374', 'score': 0.18}, {'connected_gene': 'CAMK4', 'score': 0.07}]
chr5 GH05I111116 111116801 111117000 0.38 [{'connected_gene': 'GC05P111128', 'score': 0.39}, {'connected_gene': 'ENSG00000253613', 'score': 0.34}, {'connected_gene': 'WDR36', 'score': 0.31}]
chr5 GH05I111127 111127603 111127772 0.31 [{'connected_gene': 'GC05P111128', 'score': 550.77}, {'connected_gene': 'WDR36', 'score': 0.28}, {'connected_gene': 'ENSG00000253613', 'score': 0.28}]