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
ENST00000536856 [[113558271, 113558996], [113560952, 113561095], [113561562, 113561661], [113563792, 113563971], [113565199, 113565362], [113566121, 113566165], [113567579, 113567693], [113568004, 113568140], [113569626, 113569749], [113576943, 113577028]] [[113558981, 113558996], [113560952, 113561095], [113561562, 113561661], [113563792, 113563971], [113565199, 113565207]]
ENST00000540540 [[113558271, 113558996], [113560486, 113560639], [113560952, 113561095], [113561562, 113561661], [113563792, 113563971], [113565199, 113565362], [113566121, 113566165], [113567579, 113567693], [113568004, 113568140], [113569626, 113569749], [113576943, 113577065]] [[113558981, 113558996], [113560486, 113560639], [113560952, 113561095], [113561562, 113561661], [113563792, 113563971], [113565199, 113565207]]
ENST00000299882 [[113558272, 113558996], [113560486, 113560639], [113560952, 113561095], [113561562, 113561661], [113563792, 113563971], [113565199, 113565362], [113566121, 113566165], [113567579, 113567693], [113568004, 113568140], [113569626, 113569749], [113570316, 113570415], [113570787, 113570890], [113576943, 113577095]] [[113558981, 113558996], [113560486, 113560639], [113560952, 113561095], [113561562, 113561661], [113563792, 113563971], [113565199, 113565362], [113566121, 113566165], [113567579, 113567693], [113568004, 113568140], [113569626, 113569749], [113570316, 113570415], [113570787, 113570890], [113576943, 113576946]]
ENST00000545579 [[113558418, 113558996], [113560486, 113560639], [113560952, 113561095], [113561562, 113561661], [113563792, 113563971], [113565199, 113565362], [113566121, 113566165], [113567579, 113567693], [113568004, 113568140], [113569626, 113569749], [113570316, 113570415], [113570683, 113570890], [113576943, 113577068]] [[113558981, 113558996], [113560486, 113560639], [113560952, 113561095], [113561562, 113561661], [113563792, 113563971], [113565199, 113565362], [113566121, 113566165], [113567579, 113567693], [113568004, 113568140], [113569626, 113569749], [113570316, 113570415], [113570683, 113570762]]
ENST00000538955 [[113558418, 113558996], [113560486, 113560639], [113560952, 113561095], [113561562, 113561661], [113563792, 113563971], [113565199, 113565362], [113566121, 113566165], [113567579, 113567693], [113568004, 113568140], [113569626, 113569749], [113570316, 113570415], [113576943, 113577068]] [[113558981, 113558996], [113560486, 113560639], [113560952, 113561095], [113561562, 113561661], [113563792, 113563971], [113565199, 113565362], [113566121, 113566165], [113567579, 113567693], [113568004, 113568140], [113569626, 113569749], [113570316, 113570389]]
ENST00000544634 [[113558702, 113558996], [113560486, 113560639], [113560952, 113561095], [113561562, 113561661], [113563792, 113563971], [113567579, 113567693], [113568004, 113568140], [113569626, 113569749], [113570316, 113570415], [113570787, 113570890], [113576943, 113577024]] [[113558981, 113558996], [113560486, 113560639], [113560952, 113561095], [113561562, 113561661], [113563792, 113563971], [113567579, 113567693], [113568004, 113568140], [113569626, 113569749], [113570316, 113570415], [113570787, 113570890], [113576943, 113576946]]
ENST00000544476 [[113558809, 113558996], [113560486, 113560639], [113560952, 113561095], [113561562, 113561661], [113563792, 113563971], [113567579, 113567693], [113568004, 113568140], [113569626, 113569749], [113570316, 113570415], [113576943, 113577030]] [[113558981, 113558996], [113560486, 113560639], [113560952, 113561095], [113561562, 113561661], [113563792, 113563971], [113567579, 113567693], [113568004, 113568140], [113569626, 113569749], [113570316, 113570389]]
ENST00000545265 [[113560951, 113561095], [113561562, 113561661], [113563792, 113563971], [113564325, 113564459]] None
ENST00000545412 [[113561673, 113561720], [113563792, 113563971], [113565082, 113565136]] None
ENST00000539732 [[113563928, 113563971], [113565199, 113565362], [113566121, 113566165], [113567579, 113567693], [113568004, 113568140], [113576943, 113577024]] [[113563928, 113563971], [113565199, 113565207]]
ENST00000538770 [[113563947, 113563971], [113565199, 113565362], [113566121, 113566165], [113567557, 113567693], [113568004, 113568140], [113576943, 113577024]] [[113563947, 113563971], [113565199, 113565207]]
ENST00000538091 [[113569559, 113569749], [113570316, 113570415], [113570683, 113570890], [113576943, 113577030]] [[113570758, 113570890], [113576943, 113576946]]
NM_001288751 [[113558267, 113558996], [113560486, 113560639], [113560952, 113561095], [113561562, 113561661], [113563792, 113563971], [113565199, 113565362], [113566121, 113566165], [113567579, 113567693], [113568004, 113568140], [113569626, 113569749], [113570316, 113570415], [113570683, 113570890], [113576943, 113577095]] [[113558981, 113558996], [113560486, 113560639], [113560952, 113561095], [113561562, 113561661], [113563792, 113563971], [113565199, 113565362], [113566121, 113566165], [113567579, 113567693], [113568004, 113568140], [113569626, 113569749], [113570316, 113570415], [113570683, 113570762]]
NM_030770 [[113558267, 113558996], [113560486, 113560639], [113560952, 113561095], [113561562, 113561661], [113563792, 113563971], [113565199, 113565362], [113566121, 113566165], [113567579, 113567693], [113568004, 113568140], [113569626, 113569749], [113570316, 113570415], [113570787, 113570890], [113576943, 113577095]] [[113558981, 113558996], [113560486, 113560639], [113560952, 113561095], [113561562, 113561661], [113563792, 113563971], [113565199, 113565362], [113566121, 113566165], [113567579, 113567693], [113568004, 113568140], [113569626, 113569749], [113570316, 113570415], [113570787, 113570890], [113576943, 113576946]]
NM_001288752 [[113558267, 113558996], [113560486, 113560639], [113560952, 113561095], [113561562, 113561661], [113563792, 113563971], [113567579, 113567693], [113568004, 113568140], [113569626, 113569749], [113570316, 113570415], [113570787, 113570890], [113576943, 113577095]] [[113558981, 113558996], [113560486, 113560639], [113560952, 113561095], [113561562, 113561661], [113563792, 113563971], [113567579, 113567693], [113568004, 113568140], [113569626, 113569749], [113570316, 113570415], [113570787, 113570890], [113576943, 113576946]]
NM_001288750 [[113558267, 113558996], [113560486, 113560639], [113560952, 113561095], [113561562, 113561661], [113563792, 113563971], [113565199, 113565362], [113566121, 113566165], [113567579, 113567693], [113568004, 113568140], [113569626, 113569749], [113570316, 113570415], [113576943, 113577095]] [[113558981, 113558996], [113560486, 113560639], [113560952, 113561095], [113561562, 113561661], [113563792, 113563971], [113565199, 113565362], [113566121, 113566165], [113567579, 113567693], [113568004, 113568140], [113569626, 113569749], [113570316, 113570389]]
NM_001288749 [[113558267, 113558996], [113560486, 113560639], [113560952, 113561095], [113561562, 113561661], [113563792, 113563971], [113567579, 113567693], [113568004, 113568140], [113569626, 113569749], [113570316, 113570415], [113576943, 113577095]] [[113558981, 113558996], [113560486, 113560639], [113560952, 113561095], [113561562, 113561661], [113563792, 113563971], [113567579, 113567693], [113568004, 113568140], [113569626, 113569749], [113570316, 113570389]]
NR_110046 [[113558267, 113558996], [113560486, 113560639], [113560952, 113561095], [113561562, 113561661], [113563792, 113563971], [113565199, 113565362], [113566121, 113566165], [113567579, 113567693], [113568004, 113568140], [113569626, 113569749], [113576943, 113577095]] None
NR_110047 [[113558267, 113558996], [113560952, 113561095], [113561562, 113561661], [113563792, 113563971], [113565199, 113565362], [113566121, 113566165], [113567579, 113567693], [113568004, 113568140], [113569626, 113569749], [113576943, 113577095]] None
Promoter
Chrom Start End Description
chr11 113577014 113577048 CAGE_peak_1_at_TMPRSS5_5end
chr11 113577052 113577078 CAGE_peak_2_at_TMPRSS5_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I113705 113705465 113707068 1.04 [{'connected_gene': 'TMPRSS5', 'score': 561.19}, {'connected_gene': 'LRRC37A13P', 'score': 10.47}, {'connected_gene': 'DRD2', 'score': 5.25}, {'connected_gene': 'MTRF1LP1', 'score': 0.44}, {'connected_gene': 'LOC105369501', 'score': 0.08}]
chr11 GH11I112829 112829905 112831198 0.4 [{'connected_gene': 'TMPRSS5', 'score': 4.46}, {'connected_gene': 'LOC105369498', 'score': 0.77}, {'connected_gene': 'ENSG00000254626', 'score': 0.26}]
chr11 GH11I113728 113728859 113729008 0.57 [{'connected_gene': 'TMPRSS5', 'score': 0.39}, {'connected_gene': 'RPS29P19', 'score': 0.34}]
chr11 GH11I113628 113628604 113629648 0.46 [{'connected_gene': 'TMPRSS5', 'score': 5.61}, {'connected_gene': 'MTRF1LP1', 'score': 0.18}, {'connected_gene': 'LOC105369501', 'score': 0.13}]
chr11 GH11I113662 113662880 113666406 1.42 [{'connected_gene': 'TTC12', 'score': 11.5}, {'connected_gene': 'TMPRSS5', 'score': 8.68}, {'connected_gene': 'LRRC37A13P', 'score': 6.32}, {'connected_gene': 'DRD2', 'score': 5.07}, {'connected_gene': 'MTRF1LP1', 'score': 0.25}, {'connected_gene': 'LOC105369501', 'score': 0.1}]
chr11 GH11I113680 113680920 113682378 1.3 [{'connected_gene': 'DRD2', 'score': 16.31}, {'connected_gene': 'LRRC37A13P', 'score': 10.44}, {'connected_gene': 'LOC105369499', 'score': 10.09}, {'connected_gene': 'TTC12', 'score': 10.09}, {'connected_gene': 'TMPRSS5', 'score': 5.95}, {'connected_gene': 'MTRF1LP1', 'score': 0.29}, {'connected_gene': 'LOC105369501', 'score': 0.09}]
chr11 GH11I113689 113689524 113691548 1.37 [{'connected_gene': 'LRRC37A13P', 'score': 10.45}, {'connected_gene': 'LOC105369499', 'score': 9.71}, {'connected_gene': 'TTC12', 'score': 9.71}, {'connected_gene': 'ATF4P4', 'score': 6.57}, {'connected_gene': 'MTRF1LP1', 'score': 0.34}, {'connected_gene': 'TMPRSS5', 'score': 0.34}, {'connected_gene': 'LOC105369501', 'score': 0.09}]
chr11 GH11I113725 113725519 113726719 0.46 [{'connected_gene': 'LOC105369499', 'score': 10.43}, {'connected_gene': 'TTC12', 'score': 10.43}, {'connected_gene': 'RNU6-1107P', 'score': 9.47}, {'connected_gene': 'TMPRSS5', 'score': 8.5}, {'connected_gene': 'RPS29P19', 'score': 0.31}]
chr11 GH11I112843 112843964 112845147 0.4 [{'connected_gene': 'LOC101928847', 'score': 10.14}, {'connected_gene': 'NCAM1', 'score': 10.14}, {'connected_gene': 'NCAM1-AS1', 'score': 9.58}, {'connected_gene': 'TMPRSS5', 'score': 4.56}, {'connected_gene': 'LOC105369498', 'score': 0.44}, {'connected_gene': 'PIR45615', 'score': 0.28}]
chr11 GH11I113730 113730979 113731168 0.6 [{'connected_gene': 'ATF4P4', 'score': 6.5}, {'connected_gene': 'TMPRSS5', 'score': 0.37}, {'connected_gene': 'RPS29P19', 'score': 0.34}]
chr11 GH11I114070 114070900 114087325 1.67 [{'connected_gene': 'ENSG00000270179', 'score': 11.41}, {'connected_gene': 'ZBTB16', 'score': 7.75}, {'connected_gene': 'TMPRSS5', 'score': 1.71}, {'connected_gene': 'GC11M114060', 'score': 0.37}, {'connected_gene': 'LOC101928875', 'score': 0.15}]