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
ENST00000490337 [[155838336, 155838675], [156139404, 156139448], [156170687, 156170725], [156175241, 156175321], [156177615, 156177660], [156181490, 156181535], [156183431, 156183475], [156192522, 156192609], [156232152, 156232238], [156232888, 156233009], [156234058, 156234153], [156241615, 156241736], [156249197, 156249286], [156254446, 156256334]] [[155838400, 155838675], [156139404, 156139448], [156170687, 156170725], [156175241, 156175321], [156177615, 156177660], [156181490, 156181535], [156183431, 156183475], [156192522, 156192609], [156232152, 156232238], [156232888, 156233009], [156234058, 156234153], [156241615, 156241736], [156249197, 156249286], [156254446, 156254536]]
ENST00000389636 [[155838366, 155838675], [156139404, 156139448], [156170687, 156170725], [156175241, 156175321], [156177615, 156177660], [156181490, 156181535], [156183431, 156183475], [156232152, 156232238], [156232888, 156233009], [156234058, 156234153], [156241615, 156241736], [156249197, 156249286], [156254446, 156255135]] [[155838400, 155838675], [156139404, 156139448], [156170687, 156170725], [156175241, 156175321], [156177615, 156177660], [156181490, 156181535], [156183431, 156183475], [156232152, 156232238], [156232888, 156233009], [156234058, 156234153], [156241615, 156241736], [156249197, 156249286], [156254446, 156254536]]
ENST00000471742 [[155860750, 155861209], [156139404, 156139448], [156170687, 156170725], [156175241, 156175321], [156177615, 156177660], [156181490, 156181535], [156183431, 156183475], [156192522, 156192609], [156232152, 156232238], [156232888, 156233009], [156234058, 156234153], [156241615, 156241736], [156249197, 156249286], [156254446, 156256393]] [[155860967, 155861209], [156139404, 156139448], [156170687, 156170725], [156175241, 156175321], [156177615, 156177660], [156181490, 156181535], [156183431, 156183475], [156192522, 156192609], [156232152, 156232238], [156232888, 156233009], [156234058, 156234153], [156241615, 156241736], [156249197, 156249286], [156254446, 156254536]]
ENST00000302490 [[156008825, 156009917], [156139404, 156139448], [156170687, 156170725], [156175241, 156175321], [156177615, 156177660], [156181490, 156181535], [156183431, 156183475], [156192522, 156192609], [156232152, 156232238], [156232888, 156233009], [156234058, 156234153], [156241615, 156241736], [156249197, 156249286], [156254446, 156256545]] [[156009696, 156009917], [156139404, 156139448], [156170687, 156170725], [156175241, 156175321], [156177615, 156177660], [156181490, 156181535], [156183431, 156183475], [156192522, 156192609], [156232152, 156232238], [156232888, 156233009], [156234058, 156234153], [156241615, 156241736], [156249197, 156249286], [156254446, 156254536]]
ENST00000389634 [[156009696, 156009917], [156139404, 156139448], [156170687, 156170725], [156175241, 156175321], [156177615, 156177660], [156181490, 156181535], [156183431, 156183475], [156232152, 156232238], [156232888, 156233009], [156234058, 156234153], [156241615, 156241736], [156249197, 156249286], [156254446, 156254536]] [[156009696, 156009917], [156139404, 156139448], [156170687, 156170725], [156175241, 156175321], [156177615, 156177660], [156181490, 156181535], [156183431, 156183475], [156232152, 156232238], [156232888, 156233009], [156234058, 156234153], [156241615, 156241736], [156249197, 156249286], [156254446, 156254536]]
ENST00000497291 [[156174998, 156175147], [156175241, 156175321], [156177615, 156177660], [156181490, 156181535], [156183431, 156183475], [156192522, 156192609], [156232152, 156232238], [156232888, 156233009], [156234058, 156234153], [156241615, 156241736], [156249197, 156249286], [156254446, 156255030]] None
ENST00000478609 [[155755489, 155755534], [155835999, 155836128], [156139404, 156139448], [156170687, 156171049]] None
ENST00000477912 [[155755489, 155755534], [155835999, 155836128], [156099930, 156099997], [156139404, 156139448], [156170687, 156170725], [156175241, 156175321], [156177615, 156177660], [156181490, 156181535], [156183431, 156183475], [156192522, 156192552]] None
ENST00000472028 [[155755489, 155755534], [155835999, 155836128], [156139404, 156139448], [156170687, 156170725], [156175241, 156175321], [156177615, 156177660], [156181490, 156181535], [156183431, 156183475], [156232152, 156232213]] [[155836099, 155836128], [156139404, 156139448], [156170687, 156170725], [156175241, 156175321], [156177615, 156177660], [156181490, 156181535], [156183431, 156183475], [156232152, 156232213]]
ENST00000475456 [[155991341, 155991465], [156139404, 156139448], [156170687, 156170725], [156175241, 156175321], [156177615, 156177660], [156181490, 156181535], [156183431, 156183475], [156192522, 156192609], [156232152, 156232197]] [[155991361, 155991465], [156139404, 156139448], [156170687, 156170725], [156175241, 156175321], [156177615, 156177660], [156181490, 156181535], [156183431, 156183475], [156192522, 156192609], [156232152, 156232197]]
ENST00000489036 [[156009708, 156009917], [156170687, 156170725], [156175241, 156175321], [156177615, 156177660], [156181490, 156181535], [156183431, 156183475], [156192522, 156192609], [156232152, 156232180]] [[156009708, 156009917]]
ENST00000476362 [[156173781, 156173909], [156175241, 156175321], [156177615, 156177660], [156181490, 156181535], [156183431, 156183475], [156192438, 156192609], [156232152, 156232194]] None
ENST00000461717 [[156174712, 156174832], [156175241, 156175321], [156177615, 156177660], [156181490, 156181535], [156183431, 156183475], [156192522, 156192609], [156232152, 156232238], [156232888, 156232936]] None
ENST00000496923 [[156175266, 156175321], [156177615, 156177660], [156177976, 156178336]] None
NM_001308217 [[155838336, 155838675], [156139404, 156139448], [156170687, 156170725], [156175241, 156175321], [156177615, 156177660], [156181490, 156181535], [156183431, 156183475], [156232152, 156232238], [156232888, 156233009], [156234058, 156234153], [156241615, 156241736], [156249197, 156249286], [156254446, 156256541]] [[155838400, 155838675], [156139404, 156139448], [156170687, 156170725], [156175241, 156175321], [156177615, 156177660], [156181490, 156181535], [156183431, 156183475], [156232152, 156232238], [156232888, 156233009], [156234058, 156234153], [156241615, 156241736], [156249197, 156249286], [156254446, 156254536]]
NM_172160 [[155838336, 155838675], [156139404, 156139448], [156170687, 156170725], [156175241, 156175321], [156177615, 156177660], [156181490, 156181535], [156183431, 156183475], [156192522, 156192609], [156232152, 156232238], [156232888, 156233009], [156234058, 156234153], [156241615, 156241736], [156249197, 156249286], [156254446, 156256927]] [[155838400, 155838675], [156139404, 156139448], [156170687, 156170725], [156175241, 156175321], [156177615, 156177660], [156181490, 156181535], [156183431, 156183475], [156192522, 156192609], [156232152, 156232238], [156232888, 156233009], [156234058, 156234153], [156241615, 156241736], [156249197, 156249286], [156254446, 156254536]]
NM_003471 [[155860750, 155861209], [156139404, 156139448], [156170687, 156170725], [156175241, 156175321], [156177615, 156177660], [156181490, 156181535], [156183431, 156183475], [156192522, 156192609], [156232152, 156232238], [156232888, 156233009], [156234058, 156234153], [156241615, 156241736], [156249197, 156249286], [156254446, 156256927]] [[155860967, 155861209], [156139404, 156139448], [156170687, 156170725], [156175241, 156175321], [156177615, 156177660], [156181490, 156181535], [156183431, 156183475], [156192522, 156192609], [156232152, 156232238], [156232888, 156233009], [156234058, 156234153], [156241615, 156241736], [156249197, 156249286], [156254446, 156254536]]
NM_172159 [[156008775, 156009917], [156139404, 156139448], [156170687, 156170725], [156175241, 156175321], [156177615, 156177660], [156181490, 156181535], [156183431, 156183475], [156192522, 156192609], [156232152, 156232238], [156232888, 156233009], [156234058, 156234153], [156241615, 156241736], [156249197, 156249286], [156254446, 156256927]] [[156009696, 156009917], [156139404, 156139448], [156170687, 156170725], [156175241, 156175321], [156177615, 156177660], [156181490, 156181535], [156183431, 156183475], [156192522, 156192609], [156232152, 156232238], [156232888, 156233009], [156234058, 156234153], [156241615, 156241736], [156249197, 156249286], [156254446, 156254536]]
NM_001308222 [[156008825, 156009917], [156139404, 156139448], [156170687, 156170725], [156175241, 156175321], [156177615, 156177660], [156181490, 156181535], [156183431, 156183475], [156232152, 156232238], [156232888, 156233009], [156234058, 156234153], [156241615, 156241736], [156249197, 156249286], [156254446, 156256541]] [[156009696, 156009917], [156139404, 156139448], [156170687, 156170725], [156175241, 156175321], [156177615, 156177660], [156181490, 156181535], [156183431, 156183475], [156232152, 156232238], [156232888, 156233009], [156234058, 156234153], [156241615, 156241736], [156249197, 156249286], [156254446, 156254536]]
Promoter
Chrom Start End Description
chr3 155755482 155755494 CAGE_peak_12_at_KCNAB1_5end
chr3 155838361 155838382 CAGE_peak_10_at_KCNAB1_5end
chr3 155860767 155860786 CAGE_peak_3_at_KCNAB1_5end
chr3 156008809 156008839 CAGE_peak_1_at_KCNAB1_5end
chr3 156008842 156008850 CAGE_peak_17_at_KCNAB1_5end
chr3 156008856 156008863 CAGE_peak_23_at_KCNAB1_5end
chr3 156008882 156008889 CAGE_peak_21_at_KCNAB1_5end
chr3 156008904 156008912 CAGE_peak_18_at_KCNAB1_5end
chr3 156008932 156008939 CAGE_peak_19_at_KCNAB1_5end
chr3 156008942 156008957 CAGE_peak_5_at_KCNAB1_5end
chr3 156008965 156008976 CAGE_peak_9_at_KCNAB1_5end
chr3 156008987 156009006 CAGE_peak_4_at_KCNAB1_5end
chr3 156009131 156009143 CAGE_peak_20_at_KCNAB1_5end
chr3 156009262 156009275 CAGE_peak_6_at_KCNAB1_5end
chr3 156009278 156009293 CAGE_peak_8_at_KCNAB1_5end
chr3 156009623 156009647 CAGE_peak_2_at_KCNAB1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I156160 156160801 156161000 0.38 [{'connected_gene': 'KCNAB1', 'score': 7.11}, {'connected_gene': 'LOC751837', 'score': 0.37}, {'connected_gene': 'MRE11P1', 'score': 0.25}]
chr3 GH03I156148 156148585 156151000 0.89 [{'connected_gene': 'KCNAB1', 'score': 6.82}, {'connected_gene': 'LOC751837', 'score': 0.31}, {'connected_gene': 'MRE11P1', 'score': 0.28}]
chr3 GH03I156492 156492154 156494171 0.62 [{'connected_gene': 'KCNAB1', 'score': 7.3}, {'connected_gene': 'LEKR1', 'score': 4.23}, {'connected_gene': 'GC03P156486', 'score': 0.44}, {'connected_gene': 'ENSG00000272990', 'score': 0.29}]
chr3 GH03I156456 156456709 156457741 0.65 [{'connected_gene': 'KCNAB1', 'score': 5.72}, {'connected_gene': 'SETP14', 'score': 4.33}, {'connected_gene': 'GC03M156457', 'score': 0.44}, {'connected_gene': 'KCNAB1-AS1', 'score': 0.39}]
chr3 GH03I156142 156142939 156142998 0.68 [{'connected_gene': 'KCNAB1', 'score': 560.34}, {'connected_gene': 'VN2R1P', 'score': 10.32}, {'connected_gene': 'KCNAB1-AS2', 'score': 9.84}, {'connected_gene': 'MRE11P1', 'score': 0.31}, {'connected_gene': 'LOC751837', 'score': 0.29}]
chr3 GH03I156387 156387962 156390418 0.38 [{'connected_gene': 'KCNAB1', 'score': 15.28}, {'connected_gene': 'KCNAB1-AS1', 'score': 10.93}, {'connected_gene': 'VN2R1P', 'score': 9.7}, {'connected_gene': 'TIPARP-AS1', 'score': 5.3}, {'connected_gene': 'GC03M156332', 'score': 0.77}]
chr3 GH03I156460 156460352 156460501 0.91 [{'connected_gene': 'KCNAB1', 'score': 5.43}, {'connected_gene': 'GC03M156457', 'score': 0.44}, {'connected_gene': 'KCNAB1-AS1', 'score': 0.39}]
chr3 GH03I156207 156207592 156208736 0.31 [{'connected_gene': 'KCNAB1', 'score': 5.29}, {'connected_gene': 'KCNAB1-AS2', 'score': 0.37}, {'connected_gene': 'LOC751837', 'score': 0.29}]
chr3 GH03I156120 156120539 156120598 0.5 [{'connected_gene': 'KCNAB1', 'score': 550.18}, {'connected_gene': 'KCNAB1-AS2', 'score': 10.15}, {'connected_gene': 'KCNAB1-AS1', 'score': 9.94}, {'connected_gene': 'MRE11P1', 'score': 0.44}, {'connected_gene': 'LOC751837', 'score': 0.22}]
chr3 GH03I156290 156290988 156291047 0.73 [{'connected_gene': 'KCNAB1', 'score': 550.07}, {'connected_gene': 'KCNAB1-AS2', 'score': 10.64}, {'connected_gene': 'KCNAB1-AS1', 'score': 10.5}, {'connected_gene': 'GC03P156231', 'score': 0.22}, {'connected_gene': 'GC03M156332', 'score': 0.15}]
chr3 GH03I156291 156291364 156292090 1.07 [{'connected_gene': 'KCNAB1', 'score': 550.07}, {'connected_gene': 'KCNAB1-AS2', 'score': 10.64}, {'connected_gene': 'KCNAB1-AS1', 'score': 10.5}, {'connected_gene': 'GC03P156231', 'score': 0.22}, {'connected_gene': 'GC03M156332', 'score': 0.15}]
chr3 GH03I156151 156151801 156152200 0.84 [{'connected_gene': 'LOC751837', 'score': 0.34}, {'connected_gene': 'MRE11P1', 'score': 0.28}, {'connected_gene': 'KCNAB1', 'score': 0.14}]
chr3 GH03I156549 156549765 156556118 2.28 [{'connected_gene': 'SSR3', 'score': 557.0}, {'connected_gene': 'GMPS', 'score': 15.99}, {'connected_gene': 'CCNL1', 'score': 15.76}, {'connected_gene': 'ENSG00000272990', 'score': 7.0}, {'connected_gene': 'KCNAB1', 'score': 5.84}, {'connected_gene': 'GC03P156555', 'score': 0.77}, {'connected_gene': 'GC03M156535', 'score': 0.37}]
chr3 GH03I156024 156024905 156025343 0.2 [{'connected_gene': 'VN2R1P', 'score': 0.44}, {'connected_gene': 'KCNAB1', 'score': 0.39}]
chr3 GH03I155990 155990813 155991823 0.2 [{'connected_gene': 'C3orf33', 'score': 10.85}, {'connected_gene': 'VN2R1P', 'score': 10.69}, {'connected_gene': 'KCNAB1', 'score': 10.63}, {'connected_gene': 'GMPS', 'score': 5.79}, {'connected_gene': 'SETP14', 'score': 0.77}]
chr3 GH03I156495 156495749 156498619 0.74 [{'connected_gene': 'KCNAB1-AS1', 'score': 11.7}, {'connected_gene': 'KCNAB1', 'score': 5.71}, {'connected_gene': 'GC03P156486', 'score': 0.39}, {'connected_gene': 'ENSG00000272990', 'score': 0.31}]
chr3 GH03I156511 156511857 156511969 0.22 [{'connected_gene': 'KCNAB1-AS1', 'score': 11.17}, {'connected_gene': 'ENSG00000272990', 'score': 0.39}, {'connected_gene': 'GC03P156486', 'score': 0.31}, {'connected_gene': 'KCNAB1', 'score': 0.04}]
chr3 GH03I156443 156443801 156444201 0.38 [{'connected_gene': 'KCNAB1-AS1', 'score': 0.77}, {'connected_gene': 'GC03M156332', 'score': 0.22}, {'connected_gene': 'KCNAB1', 'score': 0.05}]
chr3 GH03I156455 156455887 156456001 0.77 [{'connected_gene': 'KCNAB1-AS1', 'score': 0.44}, {'connected_gene': 'GC03M156457', 'score': 0.39}, {'connected_gene': 'KCNAB1', 'score': 0.05}]
chr3 GH03I156432 156432511 156434089 0.52 [{'connected_gene': 'KCNAB1-AS1', 'score': 0.39}, {'connected_gene': 'GC03M156332', 'score': 0.25}, {'connected_gene': 'KCNAB1', 'score': 0.05}]
chr3 GH03I156482 156482580 156485467 1.56 [{'connected_gene': 'KCNAB1-AS1', 'score': 11.69}, {'connected_gene': 'SSR3', 'score': 10.9}, {'connected_gene': 'KCNAB1', 'score': 4.89}, {'connected_gene': 'TIPARP', 'score': 1.74}, {'connected_gene': 'LEKR1', 'score': 1.27}, {'connected_gene': 'GC03P156486', 'score': 0.77}, {'connected_gene': 'GC03M156457', 'score': 0.37}]
chr3 GH03I156416 156416301 156419161 0.59 [{'connected_gene': 'KCNAB1-AS1', 'score': 11.77}, {'connected_gene': 'KCNAB1-AS2', 'score': 9.77}, {'connected_gene': 'TIPARP-AS1', 'score': 5.37}, {'connected_gene': 'GC03M156332', 'score': 0.29}, {'connected_gene': 'KCNAB1', 'score': 0.05}]
chr3 GH03I156316 156316923 156318647 0.86 [{'connected_gene': 'KCNAB1-AS1', 'score': 10.25}, {'connected_gene': 'TIPARP-AS1', 'score': 5.29}, {'connected_gene': 'GC03M156332', 'score': 0.2}, {'connected_gene': 'GC03P156231', 'score': 0.17}, {'connected_gene': 'KCNAB1', 'score': 0.06}]
chr3 GH03I156373 156373792 156373941 0.2 [{'connected_gene': 'KCNAB1-AS2', 'score': 10.12}, {'connected_gene': 'GC03M156332', 'score': 0.39}, {'connected_gene': 'GC03P156231', 'score': 0.11}, {'connected_gene': 'KCNAB1', 'score': 0.05}]
chr3 GH03I156307 156307832 156307981 0.38 [{'connected_gene': 'KCNAB1-AS2', 'score': 9.69}, {'connected_gene': 'GC03P156231', 'score': 0.18}, {'connected_gene': 'GC03M156332', 'score': 0.18}, {'connected_gene': 'KCNAB1', 'score': 0.06}]
chr3 GH03I156300 156300925 156301800 0.43 [{'connected_gene': 'KCNAB1-AS2', 'score': 9.98}, {'connected_gene': 'GC03P156231', 'score': 0.2}, {'connected_gene': 'GC03M156332', 'score': 0.17}, {'connected_gene': 'KCNAB1', 'score': 0.07}]
chr3 GH03I156304 156304286 156304835 0.43 [{'connected_gene': 'KCNAB1-AS2', 'score': 9.6}, {'connected_gene': 'GC03P156231', 'score': 0.19}, {'connected_gene': 'GC03M156332', 'score': 0.18}, {'connected_gene': 'KCNAB1', 'score': 0.06}]
chr3 GH03I156217 156217771 156218644 0.56 [{'connected_gene': 'KCNAB1-AS2', 'score': 0.44}, {'connected_gene': 'LOC751837', 'score': 0.26}, {'connected_gene': 'KCNAB1', 'score': 0.09}]
chr3 GH03I156211 156211692 156211841 0.43 [{'connected_gene': 'KCNAB1-AS2', 'score': 0.37}, {'connected_gene': 'LOC751837', 'score': 0.29}, {'connected_gene': 'KCNAB1', 'score': 0.09}]
chr3 GH03I156323 156323553 156323738 0.52 [{'connected_gene': 'KCNAB1-AS2', 'score': 10.37}, {'connected_gene': 'KCNAB1-AS1', 'score': 9.97}, {'connected_gene': 'GC03M156332', 'score': 0.21}, {'connected_gene': 'GC03P156231', 'score': 0.16}, {'connected_gene': 'KCNAB1', 'score': 0.06}]
chr3 GH03I156491 156491292 156491441 0.8 [{'connected_gene': 'GC03P156486', 'score': 0.44}, {'connected_gene': 'ENSG00000272990', 'score': 0.29}, {'connected_gene': 'KCNAB1', 'score': 0.05}]
chr3 GH03I156533 156533294 156537881 1.35 [{'connected_gene': 'GC03M156535', 'score': 550.77}, {'connected_gene': 'ENSG00000272990', 'score': 7.48}, {'connected_gene': 'KCNAB1', 'score': 6.65}]
chr3 GH03I156488 156488371 156490418 1.41 [{'connected_gene': 'GC03P156486', 'score': 0.77}, {'connected_gene': 'ENSG00000272990', 'score': 0.29}, {'connected_gene': 'KCNAB1', 'score': 0.05}]
chr3 GH03I156524 156524672 156524821 0.69 [{'connected_gene': 'ENSG00000272990', 'score': 550.77}, {'connected_gene': 'SSR3', 'score': 11.48}, {'connected_gene': 'GC03M156535', 'score': 0.39}, {'connected_gene': 'KCNAB1', 'score': 0.04}]
chr3 GH03I156485 156485775 156487359 0.2 [{'connected_gene': 'GC03P156486', 'score': 550.77}, {'connected_gene': 'KCNAB1-AS1', 'score': 11.69}, {'connected_gene': 'SSR3', 'score': 10.91}, {'connected_gene': 'KCNAB1', 'score': 8.96}, {'connected_gene': 'VN2R1P', 'score': 8.95}, {'connected_gene': 'LINC00886', 'score': 4.49}, {'connected_gene': 'ENSG00000272990', 'score': 0.28}]

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