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
ENST00000436639 [[109307639, 109308833], [109309745, 109309890], [109311847, 109312038], [109313989, 109314102], [109315664, 109315812], [109319715, 109319958], [109321693, 109321876], [109322490, 109322691], [109323480, 109323546], [109414997, 109416022]] [[109308746, 109308833], [109309745, 109309890], [109311847, 109312038], [109313989, 109314102], [109315664, 109315812], [109319715, 109319958], [109321693, 109321876], [109322490, 109322691], [109323480, 109323546], [109414997, 109415276]]
ENST00000302071 [[109307644, 109308833], [109309745, 109309890], [109311847, 109312038], [109313989, 109314102], [109315664, 109315812], [109319715, 109319958], [109321693, 109321876], [109322490, 109322691], [109323480, 109323546], [109329952, 109330191]] [[109308746, 109308833], [109309745, 109309890], [109311847, 109312038], [109313989, 109314102], [109315664, 109315812], [109319715, 109319958], [109321693, 109321876], [109322490, 109322661]]
ENST00000356644 [[109307644, 109308833], [109309745, 109309890], [109311847, 109312038], [109313989, 109314102], [109315664, 109315812], [109319715, 109319958], [109321693, 109321876], [109322490, 109322691], [109323480, 109323546], [109330561, 109330758]] [[109308746, 109308833], [109309745, 109309890], [109311847, 109312038], [109313989, 109314102], [109315664, 109315812], [109319715, 109319958], [109321693, 109321876], [109322490, 109322691], [109323480, 109323546], [109330561, 109330663]]
ENST00000520364 [[109309565, 109309890], [109311847, 109312038], [109313989, 109314219]] None
ENST00000368971 [[109314021, 109314102], [109315664, 109315812], [109319715, 109320078]] None
ENST00000523632 [[109321141, 109321876], [109322490, 109322675]] None
ENST00000517548 [[109409304, 109409446], [109411797, 109411862], [109414997, 109415171]] None
NM_001199934 [[109307639, 109308833], [109309745, 109309890], [109311847, 109312038], [109313989, 109314102], [109315664, 109315812], [109319715, 109319958], [109321693, 109321876], [109322490, 109322691], [109323480, 109323546], [109329952, 109330191]] [[109308746, 109308833], [109309745, 109309890], [109311847, 109312038], [109313989, 109314102], [109315664, 109315812], [109319715, 109319958], [109321693, 109321876], [109322490, 109322661]]
NM_001199933 [[109307639, 109308833], [109309745, 109309890], [109311847, 109312038], [109313989, 109314102], [109315664, 109315812], [109319715, 109319958], [109321693, 109321876], [109322490, 109322691], [109323480, 109323546], [109330561, 109330758]] [[109308746, 109308833], [109309745, 109309890], [109311847, 109312038], [109313989, 109314102], [109315664, 109315812], [109319715, 109319958], [109321693, 109321876], [109322490, 109322691], [109323480, 109323546], [109330561, 109330663]]
NM_014454 [[109307639, 109308833], [109309745, 109309890], [109311847, 109312038], [109313989, 109314102], [109315664, 109315812], [109319715, 109319958], [109321693, 109321876], [109322490, 109322691], [109323480, 109323546], [109414997, 109415708]] [[109308746, 109308833], [109309745, 109309890], [109311847, 109312038], [109313989, 109314102], [109315664, 109315812], [109319715, 109319958], [109321693, 109321876], [109322490, 109322691], [109323480, 109323546], [109414997, 109415276]]
Promoter
Chrom Start End Description
chr6 109323162 109323186 CAGE_peak_16_at_SESN1_5end
chr6 109330702 109330763 CAGE_peak_1_at_SESN1_5end
chr6 109415597 109415600 CAGE_peak_13_at_SESN1_5end
chr6 109415604 109415617 CAGE_peak_8_at_SESN1_5end
chr6 109415651 109415667 CAGE_peak_4_at_SESN1_5end
chr6 109415669 109415716 CAGE_peak_3_at_SESN1_5end
chr6 109416251 109416281 CAGE_peak_7_at_SESN1_5end
chr6 109416323 109416361 CAGE_peak_5_at_SESN1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I109481 109481878 109484933 2.37 [{'connected_gene': 'ZBTB24', 'score': 557.9}, {'connected_gene': 'LOC105377935', 'score': 550.77}, {'connected_gene': 'SMPD2', 'score': 23.02}, {'connected_gene': 'ENSG00000260273', 'score': 11.98}, {'connected_gene': 'PPIL6', 'score': 6.24}, {'connected_gene': 'MICAL1', 'score': 3.57}, {'connected_gene': 'SESN1', 'score': 2.2}, {'connected_gene': 'AK9', 'score': 0.08}]
chr6 GH06I108871 108871638 108875773 1.34 [{'connected_gene': 'ARMC2', 'score': 26.64}, {'connected_gene': 'RNU6-653P', 'score': 10.92}, {'connected_gene': 'ARMC2-AS1', 'score': 10.45}, {'connected_gene': 'ZBTB24', 'score': 8.9}, {'connected_gene': 'SESN1', 'score': 2.05}, {'connected_gene': 'RPS12P13', 'score': 0.37}, {'connected_gene': 'ATP5MFP2', 'score': 0.29}]
chr6 GH06I109092 109092000 109097069 2.29 [{'connected_gene': 'SESN1', 'score': 550.77}, {'connected_gene': 'CEP57L1', 'score': 550.77}, {'connected_gene': 'ZBTB24', 'score': 30.89}, {'connected_gene': 'ENSG00000271730', 'score': 5.44}, {'connected_gene': 'GC06M109088', 'score': 0.44}]
chr6 GH06I108555 108555734 108567589 2.7 [{'connected_gene': 'FOXO3', 'score': 565.18}, {'connected_gene': 'PIR59886', 'score': 550.77}, {'connected_gene': 'ZBTB24', 'score': 54.91}, {'connected_gene': 'SMPD2', 'score': 20.13}, {'connected_gene': 'CD164', 'score': 11.11}, {'connected_gene': 'RNU6-653P', 'score': 10.69}, {'connected_gene': 'ENSG00000271730', 'score': 10.2}, {'connected_gene': 'SEC63', 'score': 9.89}, {'connected_gene': 'LINC00222', 'score': 5.03}, {'connected_gene': 'SESN1', 'score': 4.0}, {'connected_gene': 'OSTM1', 'score': 1.13}, {'connected_gene': 'GC06M108618', 'score': 0.22}]
chr6 GH06I109058 109058402 109061123 0.94 [{'connected_gene': 'RNU6-653P', 'score': 550.77}, {'connected_gene': 'GC06M109060', 'score': 550.77}, {'connected_gene': 'ZBTB24', 'score': 13.85}, {'connected_gene': 'GC06M109088', 'score': 0.31}, {'connected_gene': 'SESN1', 'score': 0.28}]
chr6 GH06I109079 109079461 109080787 0.69 [{'connected_gene': 'RNU6-653P', 'score': 11.71}, {'connected_gene': 'CD164', 'score': 10.29}, {'connected_gene': 'GC06M109088', 'score': 0.44}, {'connected_gene': 'SESN1', 'score': 0.39}, {'connected_gene': 'GC06M109060', 'score': 0.34}]
chr6 GH06I109082 109082200 109082601 0.74 [{'connected_gene': 'RNU6-653P', 'score': 11.71}, {'connected_gene': 'CD164', 'score': 10.29}, {'connected_gene': 'GC06M109088', 'score': 0.44}, {'connected_gene': 'SESN1', 'score': 0.39}, {'connected_gene': 'GC06M109060', 'score': 0.34}]
chr6 GH06I109071 109071030 109072252 0.66 [{'connected_gene': 'RNU6-653P', 'score': 0.39}, {'connected_gene': 'GC06M109060', 'score': 0.39}, {'connected_gene': 'GC06M109088', 'score': 0.37}, {'connected_gene': 'SESN1', 'score': 0.34}]
chr6 GH06I109073 109073201 109073800 0.89 [{'connected_gene': 'RNU6-653P', 'score': 0.39}, {'connected_gene': 'GC06M109060', 'score': 0.39}, {'connected_gene': 'GC06M109088', 'score': 0.37}, {'connected_gene': 'SESN1', 'score': 0.34}]
chr6 GH06I109068 109068001 109068200 0.2 [{'connected_gene': 'RNU6-653P', 'score': 0.44}, {'connected_gene': 'GC06M109060', 'score': 0.44}, {'connected_gene': 'GC06M109088', 'score': 0.34}, {'connected_gene': 'SESN1', 'score': 0.31}]
chr6 GH06I109019 109019502 109021021 0.31 [{'connected_gene': 'RNU6-653P', 'score': 12.46}, {'connected_gene': 'ENSG00000271730', 'score': 6.1}, {'connected_gene': 'GC06P109009', 'score': 0.39}, {'connected_gene': 'GC06M109060', 'score': 0.28}, {'connected_gene': 'SESN1', 'score': 0.19}]
chr6 GH06I109070 109070201 109070400 0.31 [{'connected_gene': 'RNU6-653P', 'score': 0.39}, {'connected_gene': 'GC06M109060', 'score': 0.39}, {'connected_gene': 'GC06M109088', 'score': 0.37}, {'connected_gene': 'SESN1', 'score': 0.34}]
chr6 GH06I109062 109062001 109062200 0.2 [{'connected_gene': 'RNU6-653P', 'score': 0.77}, {'connected_gene': 'GC06M109060', 'score': 0.77}, {'connected_gene': 'GC06M109088', 'score': 0.31}, {'connected_gene': 'SESN1', 'score': 0.29}]
chr6 GH06I109056 109056200 109056400 0.43 [{'connected_gene': 'RNU6-653P', 'score': 0.77}, {'connected_gene': 'GC06M109060', 'score': 0.77}, {'connected_gene': 'SESN1', 'score': 0.28}, {'connected_gene': 'GC06P109009', 'score': 0.25}]
chr6 GH06I109035 109035941 109037356 0.63 [{'connected_gene': 'RNU6-653P', 'score': 13.02}, {'connected_gene': 'ARMC2-AS1', 'score': 10.65}, {'connected_gene': 'ARMC2', 'score': 9.9}, {'connected_gene': 'ENSG00000271730', 'score': 6.07}, {'connected_gene': 'GC06M109060', 'score': 0.34}, {'connected_gene': 'GC06P109009', 'score': 0.31}, {'connected_gene': 'SESN1', 'score': 0.22}]
chr6 GH06I108989 108989546 108990691 0.67 [{'connected_gene': 'RNU6-653P', 'score': 10.89}, {'connected_gene': 'ARMC2-AS1', 'score': 10.5}, {'connected_gene': 'PIR36369', 'score': 0.44}, {'connected_gene': 'ENSG00000271730', 'score': 0.44}, {'connected_gene': 'GC06P108981', 'score': 0.44}, {'connected_gene': 'SESN1', 'score': 0.15}, {'connected_gene': 'ARMC2', 'score': 0.11}]
chr6 GH06I108987 108987677 108989389 0.2 [{'connected_gene': 'RNU6-653P', 'score': 10.87}, {'connected_gene': 'ARMC2-AS1', 'score': 10.5}, {'connected_gene': 'ENSG00000271730', 'score': 6.19}, {'connected_gene': 'PIR36369', 'score': 0.44}, {'connected_gene': 'GC06P108981', 'score': 0.44}, {'connected_gene': 'SESN1', 'score': 0.14}, {'connected_gene': 'ARMC2', 'score': 0.11}]
chr6 GH06I109012 109012224 109015903 0.78 [{'connected_gene': 'RNU6-653P', 'score': 12.14}, {'connected_gene': 'ARMC2-AS1', 'score': 9.94}, {'connected_gene': 'ENSG00000271730', 'score': 6.16}, {'connected_gene': 'GC06P109009', 'score': 0.77}, {'connected_gene': 'GC06M109060', 'score': 0.25}, {'connected_gene': 'SESN1', 'score': 0.18}]
chr6 GH06I109050 109050138 109050400 0.82 [{'connected_gene': 'ARMC2-AS1', 'score': 10.33}, {'connected_gene': 'RNU6-653P', 'score': 0.44}, {'connected_gene': 'GC06M109060', 'score': 0.44}, {'connected_gene': 'SESN1', 'score': 0.26}, {'connected_gene': 'GC06P109009', 'score': 0.26}]
chr6 GH06I109006 109006574 109011610 2.22 [{'connected_gene': 'GC06P109009', 'score': 550.77}, {'connected_gene': 'SESN1', 'score': 550.17}, {'connected_gene': 'RNU6-653P', 'score': 12.1}, {'connected_gene': 'ARMC2-AS1', 'score': 10.46}, {'connected_gene': 'ENSG00000271730', 'score': 6.15}]
chr6 GH06I109076 109076018 109076167 0.38 [{'connected_gene': 'GC06M109088', 'score': 0.39}, {'connected_gene': 'SESN1', 'score': 0.37}, {'connected_gene': 'RNU6-653P', 'score': 0.37}, {'connected_gene': 'GC06M109060', 'score': 0.37}]
chr6 GH06I109001 109001385 109003122 0.89 [{'connected_gene': 'ENSG00000271730', 'score': 6.62}, {'connected_gene': 'GC06P109009', 'score': 0.44}, {'connected_gene': 'SESN1', 'score': 0.16}]
chr6 GH06I109087 109087687 109088961 0.65 [{'connected_gene': 'GC06M109088', 'score': 550.77}, {'connected_gene': 'RNU6-653P', 'score': 11.28}, {'connected_gene': 'CD164', 'score': 10.2}, {'connected_gene': 'ENSG00000271730', 'score': 5.45}, {'connected_gene': 'SESN1', 'score': 0.44}, {'connected_gene': 'GC06M109060', 'score': 0.31}]