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
ENST00000529052 [[45943171, 45943244], [45944371, 45944515], [45944608, 45944718], [45945023, 45945106], [45945704, 45945828], [45946056, 45946228], [45946335, 45946440], [45947589, 45947702], [45947772, 45947898], [45947992, 45948148], [45948261, 45948422], [45948865, 45949144], [45949470, 45949620], [45949727, 45949923], [45950180, 45950647]] [[45944433, 45944515], [45944608, 45944718], [45945023, 45945106], [45945704, 45945828], [45946056, 45946228], [45946335, 45946440], [45947589, 45947702], [45947772, 45947898], [45947992, 45948148], [45948261, 45948422], [45948865, 45949144], [45949470, 45949620], [45949727, 45949923], [45950180, 45950396]]
ENST00000531526 [[45943195, 45943244], [45944371, 45944718], [45945023, 45945106], [45945704, 45945828], [45946056, 45946228], [45946335, 45946440], [45947589, 45947702], [45947772, 45947898], [45947992, 45948148], [45948261, 45948422], [45948865, 45949144], [45949470, 45949620], [45949727, 45949923], [45950180, 45950647]] [[45944433, 45944718], [45945023, 45945106], [45945704, 45945828], [45946056, 45946228], [45946335, 45946440], [45947589, 45947702], [45947772, 45947898], [45947992, 45948148], [45948261, 45948422], [45948865, 45949144], [45949470, 45949620], [45949727, 45949923], [45950180, 45950396]]
ENST00000389968 [[45944242, 45944279], [45944371, 45944718], [45945023, 45945106], [45945704, 45945828], [45946056, 45946228], [45946335, 45946440], [45947589, 45947702], [45947772, 45947898], [45947992, 45948148], [45948261, 45948422], [45948865, 45949144], [45949299, 45949384]] [[45947639, 45947702], [45947772, 45947898], [45947992, 45948148], [45948261, 45948422], [45948865, 45949144], [45949299, 45949384]]
ENST00000401752 [[45944242, 45944279], [45944371, 45944718], [45945023, 45945106], [45945704, 45945828], [45946056, 45946228], [45946335, 45946440], [45947589, 45947702], [45947772, 45947898], [45947992, 45948148], [45948261, 45948422], [45948865, 45949144], [45949470, 45949620], [45949727, 45949923], [45950180, 45950647]] [[45944433, 45944718], [45945023, 45945106], [45945704, 45945828], [45946056, 45946228], [45946335, 45946440], [45947589, 45947702], [45947772, 45947898], [45947992, 45948148], [45948261, 45948422], [45948865, 45949144], [45949470, 45949620], [45949727, 45949923], [45950180, 45950396]]
ENST00000325468 [[45944328, 45944718], [45945023, 45945106], [45945704, 45945828], [45946056, 45946228], [45946335, 45946440], [45947589, 45947702], [45947772, 45947898], [45947992, 45948148], [45948261, 45948422], [45948865, 45949144], [45949470, 45949620], [45949727, 45949923], [45950180, 45950647]] [[45944433, 45944718], [45945023, 45945106], [45945704, 45945828], [45946056, 45946228], [45946335, 45946440], [45947589, 45947702], [45947772, 45947898], [45947992, 45948148], [45948261, 45948422], [45948865, 45949144], [45949470, 45949620], [45949727, 45949923], [45950180, 45950396]]
ENST00000536139 [[45944328, 45944515], [45944608, 45944718], [45945023, 45945106], [45945704, 45945828], [45946056, 45946228], [45946335, 45946440], [45947589, 45947702], [45947772, 45947898], [45947992, 45948148], [45948261, 45948422], [45948865, 45949144], [45949470, 45949620], [45949727, 45949923], [45950180, 45950647]] [[45944433, 45944515], [45944608, 45944718], [45945023, 45945106], [45945704, 45945828], [45946056, 45946228], [45946335, 45946440], [45947589, 45947702], [45947772, 45947898], [45947992, 45948148], [45948261, 45948422], [45948865, 45949144], [45949470, 45949620], [45949727, 45949923], [45950180, 45950396]]
ENST00000528236 [[45945700, 45945828], [45946056, 45946228], [45946335, 45946440], [45947589, 45947898], [45947992, 45948148], [45948261, 45948422], [45948865, 45949144], [45949299, 45949620], [45949727, 45949923], [45950180, 45950647]] None
ENST00000525609 [[45946004, 45946228], [45946335, 45946440], [45947772, 45947898], [45947992, 45948103]] None
ENST00000414027 [[45946167, 45946440], [45947772, 45947898], [45947992, 45948148], [45948261, 45948381]] None
ENST00000530437 [[45947913, 45948148], [45948261, 45948422], [45948865, 45949144], [45949470, 45949620], [45949727, 45949923], [45950180, 45950633]] None
ENST00000534410 [[45948001, 45948148], [45948261, 45948422], [45948995, 45949144], [45949470, 45949489]] [[45948001, 45948148], [45948261, 45948422], [45948995, 45949144], [45949470, 45949489]]
ENST00000531847 [[45949586, 45949620], [45950180, 45950647]] [[45949586, 45949620], [45950180, 45950475]]
NM_001300722 [[45943171, 45943244], [45944371, 45944515], [45944608, 45944718], [45945023, 45945106], [45945704, 45945828], [45946056, 45946228], [45946335, 45946440], [45947589, 45947702], [45947772, 45947898], [45947992, 45948148], [45948261, 45948422], [45948865, 45949144], [45949470, 45949620], [45949727, 45949923], [45950180, 45950647]] [[45944433, 45944515], [45944608, 45944718], [45945023, 45945106], [45945704, 45945828], [45946056, 45946228], [45946335, 45946440], [45947589, 45947702], [45947772, 45947898], [45947992, 45948148], [45948261, 45948422], [45948865, 45949144], [45949470, 45949620], [45949727, 45949923], [45950180, 45950396]]
NM_152312 [[45943171, 45943244], [45944371, 45944718], [45945023, 45945106], [45945704, 45945828], [45946056, 45946228], [45946335, 45946440], [45947589, 45947702], [45947772, 45947898], [45947992, 45948148], [45948261, 45948422], [45948865, 45949144], [45949470, 45949620], [45949727, 45949923], [45950180, 45950647]] [[45944433, 45944718], [45945023, 45945106], [45945704, 45945828], [45946056, 45946228], [45946335, 45946440], [45947589, 45947702], [45947772, 45947898], [45947992, 45948148], [45948261, 45948422], [45948865, 45949144], [45949470, 45949620], [45949727, 45949923], [45950180, 45950396]]
NM_001300721 [[45944226, 45944279], [45944371, 45944718], [45945023, 45945106], [45945704, 45945828], [45946056, 45946228], [45946335, 45946440], [45947589, 45947702], [45947772, 45947898], [45947992, 45948148], [45948261, 45948422], [45948865, 45949144], [45949470, 45949620], [45949727, 45949923], [45950180, 45950647]] [[45944433, 45944718], [45945023, 45945106], [45945704, 45945828], [45946056, 45946228], [45946335, 45946440], [45947589, 45947702], [45947772, 45947898], [45947992, 45948148], [45948261, 45948422], [45948865, 45949144], [45949470, 45949620], [45949727, 45949923], [45950180, 45950396]]
Promoter
Chrom Start End Description
chr11 45943169 45943198 CAGE_peak_2_at_GYLTL1B_5end
chr11 45944190 45944266 CAGE_peak_1_at_GYLTL1B_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I046706 46706809 46708492 0.31 [{'connected_gene': 'ATG13', 'score': 15.46}, {'connected_gene': 'ARHGAP1', 'score': 12.27}, {'connected_gene': 'SNORD67', 'score': 10.67}, {'connected_gene': 'CKAP5', 'score': 10.55}, {'connected_gene': 'HARBI1', 'score': 10.04}, {'connected_gene': 'LARGE2', 'score': 6.3}, {'connected_gene': 'MDK', 'score': 6.24}, {'connected_gene': 'ZNF408', 'score': 0.44}, {'connected_gene': 'F2', 'score': 0.39}]
chr11 GH11I045861 45861618 45862451 0.38 [{'connected_gene': 'MAPK8IP1', 'score': 17.45}, {'connected_gene': 'ENSG00000255498', 'score': 11.42}, {'connected_gene': 'C11orf94', 'score': 11.4}, {'connected_gene': 'LARGE2', 'score': 11.38}, {'connected_gene': 'PEX16', 'score': 11.38}, {'connected_gene': 'SLC35C1', 'score': 7.57}, {'connected_gene': 'CRY2', 'score': 0.39}]
chr11 GH11I045854 45854992 45861211 1.14 [{'connected_gene': 'MAPK8IP1', 'score': 29.27}, {'connected_gene': 'ENSG00000255498', 'score': 11.57}, {'connected_gene': 'C11orf94', 'score': 11.57}, {'connected_gene': 'LARGE2', 'score': 11.54}, {'connected_gene': 'PEX16', 'score': 11.54}, {'connected_gene': 'DKFZp779M0652', 'score': 11.47}, {'connected_gene': 'SLC35C1', 'score': 7.83}, {'connected_gene': 'CRY2', 'score': 0.39}]
chr11 GH11I045916 45916880 45920820 2.43 [{'connected_gene': 'PEX16', 'score': 550.77}, {'connected_gene': 'RPS10P19', 'score': 11.83}, {'connected_gene': 'ZNF408', 'score': 9.99}, {'connected_gene': 'LARGE2', 'score': 0.77}]
chr11 GH11I046246 46246573 46251418 1.63 [{'connected_gene': 'CREB3L1', 'score': 14.47}, {'connected_gene': 'LINC02489', 'score': 12.52}, {'connected_gene': 'LARGE2', 'score': 6.75}, {'connected_gene': 'MAPK8IP1', 'score': 4.3}, {'connected_gene': 'GC11P046245', 'score': 0.77}]
chr11 GH11I045664 45664631 45666015 1.69 [{'connected_gene': 'CHST1', 'score': 557.77}, {'connected_gene': 'GC11M045667', 'score': 550.77}, {'connected_gene': 'PIR54477', 'score': 550.77}, {'connected_gene': 'GC11M045649', 'score': 550.77}, {'connected_gene': 'LARGE2', 'score': 4.49}, {'connected_gene': 'PIR58767', 'score': 0.77}, {'connected_gene': 'PIRC51', 'score': 0.44}]
chr11 GH11I046117 46117668 46123617 2.26 [{'connected_gene': 'PHF21A', 'score': 550.77}, {'connected_gene': 'AMBRA1', 'score': 15.34}, {'connected_gene': 'RPS10P19', 'score': 11.86}, {'connected_gene': 'ZNF408', 'score': 9.99}, {'connected_gene': 'LARGE2', 'score': 7.51}, {'connected_gene': 'CKAP5', 'score': 3.99}, {'connected_gene': 'ENSG00000254653', 'score': 0.77}, {'connected_gene': 'LOC101928894', 'score': 0.77}]
chr11 GH11I046048 46048816 46052279 0.85 [{'connected_gene': 'PHF21A', 'score': 10.82}, {'connected_gene': 'LARGE2', 'score': 7.92}, {'connected_gene': 'ENSG00000254664', 'score': 5.86}, {'connected_gene': 'ENSG00000254653', 'score': 0.2}]
chr11 GH11I046099 46099202 46101831 1.07 [{'connected_gene': 'PHF21A', 'score': 12.13}, {'connected_gene': 'LARGE2', 'score': 7.89}, {'connected_gene': 'ENSG00000254653', 'score': 0.37}]
chr11 GH11I046055 46055342 46055751 0.64 [{'connected_gene': 'PHF21A', 'score': 10.47}, {'connected_gene': 'ENSG00000254653', 'score': 0.21}, {'connected_gene': 'LARGE2', 'score': 0.12}]
chr11 GH11I045982 45982536 45984019 1.34 [{'connected_gene': 'ZNF408', 'score': 15.31}, {'connected_gene': 'AMBRA1', 'score': 12.44}, {'connected_gene': 'LARGE2', 'score': 10.2}, {'connected_gene': 'C11orf49', 'score': 5.0}, {'connected_gene': 'PHF21A', 'score': 0.12}, {'connected_gene': 'ENSG00000254653', 'score': 0.12}]
chr11 GH11I045944 45944528 45946769 0.43 [{'connected_gene': 'LARGE2', 'score': 12.55}, {'connected_gene': 'PEX16', 'score': 12.52}, {'connected_gene': 'ENSG00000255498', 'score': 12.49}, {'connected_gene': 'C11orf94', 'score': 12.49}, {'connected_gene': 'SLC35C1', 'score': 6.1}, {'connected_gene': 'PHF21A', 'score': 0.1}, {'connected_gene': 'ENSG00000254653', 'score': 0.09}]
chr11 GH11I045941 45941031 45943358 0.43 [{'connected_gene': 'LARGE2', 'score': 13.0}, {'connected_gene': 'PEX16', 'score': 13.0}, {'connected_gene': 'C11orf94', 'score': 12.95}, {'connected_gene': 'ENSG00000255498', 'score': 12.94}, {'connected_gene': 'PHF21A', 'score': 0.1}, {'connected_gene': 'ENSG00000254653', 'score': 0.09}]
chr11 GH11I045056 45056170 45057383 0.63 [{'connected_gene': 'LARGE2', 'score': 5.33}, {'connected_gene': 'PRDM11', 'score': 0.28}, {'connected_gene': 'LOC105376650', 'score': 0.25}]
chr11 GH11I046113 46113822 46114012 0.56 [{'connected_gene': 'LARGE2', 'score': 7.39}, {'connected_gene': 'AMBRA1', 'score': 3.26}, {'connected_gene': 'PHF21A', 'score': 2.87}, {'connected_gene': 'ENSG00000254653', 'score': 0.77}]
chr11 GH11I045928 45928382 45934000 1.63 [{'connected_gene': 'LARGE2', 'score': 10.06}, {'connected_gene': 'SLC35C1', 'score': 5.02}, {'connected_gene': 'ENSG00000254653', 'score': 0.09}, {'connected_gene': 'PHF21A', 'score': 0.08}]
chr11 GH11I046000 46000974 46002928 0.92 [{'connected_gene': 'LARGE2', 'score': 11.15}, {'connected_gene': 'ENSG00000254653', 'score': 0.14}, {'connected_gene': 'PHF21A', 'score': 0.13}]
chr11 GH11I046072 46072321 46072921 0.43 [{'connected_gene': 'LARGE2', 'score': 7.9}, {'connected_gene': 'ENSG00000254664', 'score': 5.86}, {'connected_gene': 'ENSG00000254653', 'score': 0.26}, {'connected_gene': 'PHF21A', 'score': 0.25}]
chr11 GH11I045999 45999005 46000265 0.2 [{'connected_gene': 'LARGE2', 'score': 10.67}, {'connected_gene': 'ENSG00000254653', 'score': 0.13}, {'connected_gene': 'PHF21A', 'score': 0.13}]
chr11 GH11I046003 46003601 46003801 0.77 [{'connected_gene': 'LARGE2', 'score': 0.18}, {'connected_gene': 'ENSG00000254653', 'score': 0.14}, {'connected_gene': 'PHF21A', 'score': 0.13}]
chr11 GH11I045993 45993356 45996105 1.36 [{'connected_gene': 'LARGE2', 'score': 11.14}, {'connected_gene': 'PHF21A', 'score': 0.13}, {'connected_gene': 'ENSG00000254653', 'score': 0.13}]
chr11 GH11I046104 46104793 46106468 0.64 [{'connected_gene': 'LARGE2', 'score': 7.88}, {'connected_gene': 'ENSG00000254653', 'score': 0.39}, {'connected_gene': 'PHF21A', 'score': 0.37}]
chr11 GH11I046011 46011627 46013035 0.58 [{'connected_gene': 'LARGE2', 'score': 0.16}, {'connected_gene': 'ENSG00000254653', 'score': 0.15}, {'connected_gene': 'PHF21A', 'score': 0.14}]
chr11 GH11I045934 45934218 45935322 0.72 [{'connected_gene': 'LARGE2', 'score': 0.39}, {'connected_gene': 'ENSG00000254653', 'score': 0.09}, {'connected_gene': 'PHF21A', 'score': 0.09}]
chr11 GH11I046006 46006070 46006932 0.76 [{'connected_gene': 'LARGE2', 'score': 0.17}, {'connected_gene': 'ENSG00000254653', 'score': 0.14}, {'connected_gene': 'PHF21A', 'score': 0.14}]
chr11 GH11I045997 45997387 45998362 0.7 [{'connected_gene': 'LARGE2', 'score': 11.13}, {'connected_gene': 'ENSG00000254653', 'score': 0.13}, {'connected_gene': 'PHF21A', 'score': 0.13}]
chr11 GH11I046251 46251796 46254624 1.1 [{'connected_gene': 'LARGE2', 'score': 6.91}, {'connected_gene': 'LRP4', 'score': 5.52}, {'connected_gene': 'ARFGAP2', 'score': 4.31}, {'connected_gene': 'GC11P046245', 'score': 0.44}, {'connected_gene': 'LINC02489', 'score': 0.34}]
chr11 GH11I045926 45926991 45927755 0.58 [{'connected_gene': 'LARGE2', 'score': 0.44}, {'connected_gene': 'ENSG00000254653', 'score': 0.09}]
chr11 GH11I045921 45921167 45923512 2.07 [{'connected_gene': 'LARGE2', 'score': 550.77}, {'connected_gene': 'ENSG00000254653', 'score': 0.08}]
chr11 GH11I045923 45923550 45923699 0.58 [{'connected_gene': 'LARGE2', 'score': 0.77}, {'connected_gene': 'ENSG00000254653', 'score': 0.08}]
chr11 GH11I046682 46682734 46684991 0.59 [{'connected_gene': 'MDK', 'score': 6.48}, {'connected_gene': 'LRP4', 'score': 4.95}, {'connected_gene': 'LARGE2', 'score': 4.49}, {'connected_gene': 'GC11P046676', 'score': 0.44}, {'connected_gene': 'PIR37478', 'score': 0.39}, {'connected_gene': 'ARHGAP1', 'score': 0.37}]
chr11 GH11I045964 45964449 45965516 0.89 [{'connected_gene': 'RPS10P19', 'score': 11.84}, {'connected_gene': 'ZNF408', 'score': 9.99}, {'connected_gene': 'LARGE2', 'score': 0.26}, {'connected_gene': 'ENSG00000254653', 'score': 0.1}, {'connected_gene': 'PHF21A', 'score': 0.1}]
chr11 GH11I045662 45662601 45663968 1.05 [{'connected_gene': 'PIR58767', 'score': 550.77}, {'connected_gene': 'CHST1', 'score': 9.44}, {'connected_gene': 'LARGE2', 'score': 4.54}, {'connected_gene': 'MAPK8IP1', 'score': 2.64}, {'connected_gene': 'CRY2', 'score': 1.69}, {'connected_gene': 'SYT13', 'score': 1.63}, {'connected_gene': 'GC11M045649', 'score': 0.77}, {'connected_gene': 'PIRC51', 'score': 0.77}]
chr11 GH11I046115 46113070 46113239 0.87 [{'connected_gene': 'ENSG00000254653', 'score': 0.77}, {'connected_gene': 'PHF21A', 'score': 0.44}, {'connected_gene': 'LARGE2', 'score': 0.08}]
chr11 GH11I046106 46106600 46107000 0.97 [{'connected_gene': 'ENSG00000254653', 'score': 0.44}, {'connected_gene': 'PHF21A', 'score': 0.39}, {'connected_gene': 'LARGE2', 'score': 0.09}]
chr11 GH11I046074 46074830 46075702 0.85 [{'connected_gene': 'ENSG00000254653', 'score': 0.26}, {'connected_gene': 'PHF21A', 'score': 0.25}, {'connected_gene': 'LARGE2', 'score': 0.1}]
chr11 GH11I046114 46114481 46115000 0.92 [{'connected_gene': 'ENSG00000254653', 'score': 550.77}, {'connected_gene': 'PHF21A', 'score': 0.44}, {'connected_gene': 'LARGE2', 'score': 0.08}]
chr11 GH11I046026 46026255 46027914 0.38 [{'connected_gene': 'ENSG00000254653', 'score': 0.17}, {'connected_gene': 'PHF21A', 'score': 0.16}, {'connected_gene': 'LARGE2', 'score': 0.14}]
chr11 GH11I045879 45879600 45882667 1.11 [{'connected_gene': 'ENSG00000255498', 'score': 12.99}, {'connected_gene': 'C11orf94', 'score': 12.99}, {'connected_gene': 'LARGE2', 'score': 12.95}, {'connected_gene': 'PEX16', 'score': 12.95}, {'connected_gene': 'MAPK8IP1', 'score': 10.52}, {'connected_gene': 'DKFZp779M0652', 'score': 6.39}, {'connected_gene': 'CRY2', 'score': 0.29}]
chr11 GH11I045865 45865616 45866813 0.2 [{'connected_gene': 'ENSG00000255498', 'score': 11.42}, {'connected_gene': 'C11orf94', 'score': 11.42}, {'connected_gene': 'LARGE2', 'score': 11.39}, {'connected_gene': 'PEX16', 'score': 11.39}, {'connected_gene': 'DKFZp779M0652', 'score': 7.49}, {'connected_gene': 'CRY2', 'score': 0.37}, {'connected_gene': 'MAPK8IP1', 'score': 0.37}]
chr11 GH11I045862 45862904 45863978 0.43 [{'connected_gene': 'ENSG00000255498', 'score': 11.42}, {'connected_gene': 'C11orf94', 'score': 11.42}, {'connected_gene': 'LARGE2', 'score': 11.38}, {'connected_gene': 'PEX16', 'score': 11.38}, {'connected_gene': 'CRY2', 'score': 0.37}, {'connected_gene': 'MAPK8IP1', 'score': 0.34}]
chr11 GH11I045657 45657756 45659975 0.72 [{'connected_gene': 'PIR51413', 'score': 550.77}, {'connected_gene': 'GC11M045660', 'score': 550.77}, {'connected_gene': 'PIRC51', 'score': 550.77}, {'connected_gene': 'PIR44692', 'score': 550.77}, {'connected_gene': 'CHST1', 'score': 7.67}, {'connected_gene': 'LARGE2', 'score': 6.37}, {'connected_gene': 'PIR53272', 'score': 0.77}, {'connected_gene': 'GC11M045656', 'score': 0.77}, {'connected_gene': 'GC11M045649', 'score': 0.44}]
chr11 GH11I046236 46236007 46240664 2.12 [{'connected_gene': 'ENSG00000254639', 'score': 550.77}, {'connected_gene': 'ENSG00000270060', 'score': 17.33}, {'connected_gene': 'RPS10P19', 'score': 11.88}, {'connected_gene': 'DDB2', 'score': 11.76}, {'connected_gene': 'CREB3L1', 'score': 11.76}, {'connected_gene': 'LINC02489', 'score': 11.76}, {'connected_gene': 'ZNF408', 'score': 10.01}, {'connected_gene': 'LARGE2', 'score': 6.16}, {'connected_gene': 'DGKZ', 'score': 4.25}, {'connected_gene': 'SLC35C1', 'score': 4.19}, {'connected_gene': 'ATG13', 'score': 4.17}, {'connected_gene': 'LOC105376662', 'score': 0.37}]

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