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
ENST00000298048 [[36572858, 36573004], [36581640, 36581736], [36583623, 36583709], [36589532, 36589649], [36594624, 36594768], [36597218, 36597287], [36599390, 36599483], [36607571, 36607670], [36630295, 36630364], [36633098, 36633197], [36642993, 36643080], [36651742, 36651874], [36657237, 36657360], [36665346, 36665578], [36669306, 36669403], [36670994, 36671163], [36674830, 36674934], [36677156, 36677503]] [[36581678, 36581736], [36583623, 36583709], [36589532, 36589649], [36594624, 36594768], [36597218, 36597287], [36599390, 36599483], [36607571, 36607670], [36630295, 36630364], [36633098, 36633197], [36642993, 36643080], [36651742, 36651874], [36657237, 36657360], [36665346, 36665578], [36669306, 36669403], [36670994, 36671163], [36674830, 36674934], [36677156, 36677334]]
ENST00000538311 [[36572859, 36573004], [36581640, 36581736], [36589532, 36589649], [36594624, 36594768], [36597218, 36597287], [36599390, 36599483], [36603986, 36604109], [36607571, 36607670], [36630295, 36630364], [36633098, 36633197], [36642993, 36643080], [36651742, 36651874], [36657237, 36657360], [36665346, 36665578], [36669306, 36669403], [36670994, 36671163], [36674830, 36674934], [36677156, 36677426]] [[36607586, 36607670], [36630295, 36630364], [36633098, 36633197], [36642993, 36643080], [36651742, 36651874], [36657237, 36657360], [36665346, 36665578], [36669306, 36669403], [36670994, 36671163], [36674830, 36674934], [36677156, 36677334]]
ENST00000536987 [[36572891, 36573004], [36589532, 36589649], [36597218, 36597287], [36599390, 36599483], [36607571, 36607670], [36630295, 36630364], [36633098, 36633197], [36642993, 36643080], [36651742, 36651874], [36657237, 36657360], [36665346, 36665578], [36669306, 36669403], [36670994, 36671163], [36674830, 36674934], [36677156, 36677678]] [[36589637, 36589649], [36597218, 36597287], [36599390, 36599483], [36607571, 36607670], [36630295, 36630364], [36633098, 36633197], [36642993, 36643080], [36651742, 36651874], [36657237, 36657360], [36665346, 36665578], [36669306, 36669403], [36670994, 36671163], [36674830, 36674934], [36677156, 36677334]]
ENST00000489766 [[36572893, 36573004], [36581640, 36581736], [36583623, 36583709], [36589532, 36589649], [36599390, 36599483], [36607571, 36607619]] None
ENST00000495529 [[36572893, 36573004], [36581640, 36581736], [36583623, 36583709], [36589532, 36589649], [36597218, 36597287], [36599390, 36599483], [36607571, 36607670], [36630295, 36630364], [36633098, 36633152]] None
ENST00000536860 [[36572893, 36573004], [36581640, 36581736], [36583623, 36583709], [36589532, 36589649], [36597218, 36597287], [36599390, 36599483], [36607571, 36607670], [36630295, 36630364], [36633098, 36633197], [36642993, 36643080], [36651742, 36651874], [36657237, 36657360], [36665346, 36665578], [36669306, 36669403], [36670994, 36671163], [36674830, 36674934], [36677156, 36677644]] [[36581678, 36581736], [36583623, 36583709], [36589532, 36589649], [36597218, 36597287], [36599390, 36599483], [36607571, 36607670], [36630295, 36630364], [36633098, 36633197], [36642993, 36643080], [36651742, 36651874], [36657237, 36657360], [36665346, 36665578], [36669306, 36669403], [36670994, 36671163], [36674830, 36674934], [36677156, 36677334]]
ENST00000545008 [[36572893, 36573004], [36581640, 36581736], [36583623, 36583709], [36589532, 36589649], [36599390, 36599483], [36607571, 36607670], [36630295, 36630364], [36633098, 36633197], [36642993, 36643080], [36651742, 36651874], [36657237, 36657360], [36665346, 36665578], [36669306, 36669403], [36670994, 36671163], [36674830, 36674934], [36677156, 36677678]] [[36581678, 36581736], [36583623, 36583709], [36589532, 36589649], [36599390, 36599483], [36607571, 36607670], [36630295, 36630364], [36633098, 36633197], [36642993, 36643080], [36651742, 36651874], [36657237, 36657360], [36665346, 36665578], [36669306, 36669403], [36670994, 36671163], [36674830, 36674934], [36677156, 36677334]]
ENST00000536329 [[36572905, 36573004], [36581640, 36581736], [36594624, 36594768], [36597218, 36597287], [36599390, 36599483], [36607571, 36607670], [36630295, 36630364], [36633098, 36633197], [36642993, 36643080], [36651742, 36651874], [36657237, 36657360], [36665346, 36665578], [36669306, 36669403], [36670994, 36671163], [36674830, 36674934], [36677156, 36677676]] [[36581688, 36581736], [36594624, 36594768], [36597218, 36597287], [36599390, 36599483], [36607571, 36607670], [36630295, 36630364], [36633098, 36633197], [36642993, 36643080], [36651742, 36651874], [36657237, 36657360], [36665346, 36665578], [36669306, 36669403], [36670994, 36671163], [36674830, 36674934], [36677156, 36677334]]
ENST00000541717 [[36572906, 36573004], [36581640, 36581736], [36583623, 36583709], [36589532, 36589649], [36594624, 36594768], [36597218, 36597287], [36599390, 36599483], [36607571, 36607670], [36630295, 36630364], [36633098, 36633197], [36642993, 36643080], [36651742, 36651874], [36665346, 36665578], [36669306, 36669403], [36670994, 36671163], [36674830, 36674934], [36677156, 36677656]] [[36581678, 36581736], [36583623, 36583709], [36589532, 36589649], [36594624, 36594768], [36597218, 36597287], [36599390, 36599483], [36607571, 36607670], [36630295, 36630364], [36633098, 36633197], [36642993, 36643080], [36651742, 36651874], [36665346, 36665578], [36669306, 36669403], [36670994, 36671163], [36674830, 36674934], [36677156, 36677334]]
ENST00000543751 [[36572907, 36573004], [36581640, 36581736], [36589532, 36589649], [36594624, 36594768], [36597218, 36597287], [36599390, 36599483], [36607571, 36607670], [36630295, 36630364], [36633098, 36633197], [36642993, 36643080], [36651742, 36651874], [36657237, 36657360], [36665346, 36665578], [36669306, 36669403], [36670994, 36671163], [36674830, 36674934], [36677156, 36677676]] [[36581688, 36581736], [36589532, 36589649], [36594624, 36594768], [36597218, 36597287], [36599390, 36599483], [36607571, 36607670], [36630295, 36630364], [36633098, 36633197], [36642993, 36643080], [36651742, 36651874], [36657237, 36657360], [36665346, 36665578], [36669306, 36669403], [36670994, 36671163], [36674830, 36674934], [36677156, 36677334]]
ENST00000487398 [[36572920, 36573195], [36581640, 36581736], [36589532, 36589649], [36594624, 36594768], [36597218, 36597287], [36599390, 36599483], [36607571, 36607670], [36630295, 36630364]] None
ENST00000480021 [[36630003, 36630364], [36633098, 36633197]] None
NM_001256692 [[36572858, 36573004], [36589532, 36589649], [36597218, 36597287], [36599390, 36599483], [36607571, 36607670], [36630295, 36630364], [36633098, 36633197], [36642993, 36643080], [36651742, 36651874], [36657237, 36657360], [36665346, 36665578], [36669306, 36669403], [36670994, 36671163], [36674830, 36674934], [36677156, 36677680]] [[36589637, 36589649], [36597218, 36597287], [36599390, 36599483], [36607571, 36607670], [36630295, 36630364], [36633098, 36633197], [36642993, 36643080], [36651742, 36651874], [36657237, 36657360], [36665346, 36665578], [36669306, 36669403], [36670994, 36671163], [36674830, 36674934], [36677156, 36677334]]
NM_001256693 [[36572858, 36573004], [36589532, 36589649], [36594624, 36594768], [36597218, 36597287], [36599390, 36599483], [36607575, 36607670], [36630295, 36630364], [36633098, 36633197], [36642993, 36643080], [36651742, 36651874], [36657237, 36657360], [36665346, 36665578], [36669306, 36669403], [36670994, 36671163], [36674830, 36674934], [36677156, 36677680]] [[36607586, 36607670], [36630295, 36630364], [36633098, 36633197], [36642993, 36643080], [36651742, 36651874], [36657237, 36657360], [36665346, 36665578], [36669306, 36669403], [36670994, 36671163], [36674830, 36674934], [36677156, 36677334]]
NM_001256690 [[36572858, 36573004], [36581640, 36581736], [36594624, 36594768], [36597218, 36597287], [36599390, 36599483], [36607571, 36607670], [36630295, 36630364], [36633098, 36633197], [36642993, 36643080], [36651742, 36651874], [36657237, 36657360], [36665346, 36665578], [36669306, 36669403], [36670994, 36671163], [36674830, 36674934], [36677156, 36677680]] [[36581688, 36581736], [36594624, 36594768], [36597218, 36597287], [36599390, 36599483], [36607571, 36607670], [36630295, 36630364], [36633098, 36633197], [36642993, 36643080], [36651742, 36651874], [36657237, 36657360], [36665346, 36665578], [36669306, 36669403], [36670994, 36671163], [36674830, 36674934], [36677156, 36677334]]
NM_001256691 [[36572858, 36573004], [36581640, 36581736], [36589532, 36589649], [36597218, 36597287], [36599390, 36599483], [36607571, 36607670], [36630295, 36630364], [36633098, 36633197], [36642993, 36643080], [36651742, 36651874], [36657237, 36657360], [36665346, 36665578], [36669306, 36669403], [36670994, 36671163], [36674830, 36674934], [36677156, 36677680]] [[36581688, 36581736], [36589532, 36589649], [36597218, 36597287], [36599390, 36599483], [36607571, 36607670], [36630295, 36630364], [36633098, 36633197], [36642993, 36643080], [36651742, 36651874], [36657237, 36657360], [36665346, 36665578], [36669306, 36669403], [36670994, 36671163], [36674830, 36674934], [36677156, 36677334]]
NM_001256689 [[36572858, 36573004], [36581640, 36581736], [36589532, 36589649], [36594624, 36594768], [36597218, 36597287], [36599390, 36599483], [36607571, 36607670], [36630295, 36630364], [36633098, 36633197], [36642993, 36643080], [36651742, 36651874], [36657237, 36657360], [36665346, 36665578], [36669306, 36669403], [36670994, 36671163], [36674830, 36674934], [36677156, 36677680]] [[36581688, 36581736], [36589532, 36589649], [36594624, 36594768], [36597218, 36597287], [36599390, 36599483], [36607571, 36607670], [36630295, 36630364], [36633098, 36633197], [36642993, 36643080], [36651742, 36651874], [36657237, 36657360], [36665346, 36665578], [36669306, 36669403], [36670994, 36671163], [36674830, 36674934], [36677156, 36677334]]
NR_046337 [[36572858, 36573004], [36581640, 36581736], [36589532, 36589649], [36594624, 36594768], [36597218, 36597287], [36599390, 36599483], [36603986, 36604109], [36607571, 36607670], [36630295, 36630364], [36633098, 36633197], [36642993, 36643080], [36651742, 36651874], [36657237, 36657360], [36665346, 36665578], [36669306, 36669403], [36670994, 36671163], [36674830, 36674934], [36677156, 36677680]] None
NM_001256688 [[36572858, 36573004], [36581640, 36581736], [36583623, 36583709], [36589532, 36589649], [36599390, 36599483], [36607571, 36607670], [36630295, 36630364], [36633098, 36633197], [36642993, 36643080], [36651742, 36651874], [36657237, 36657360], [36665346, 36665578], [36669306, 36669403], [36670994, 36671163], [36674830, 36674934], [36677156, 36677680]] [[36581678, 36581736], [36583623, 36583709], [36589532, 36589649], [36599390, 36599483], [36607571, 36607670], [36630295, 36630364], [36633098, 36633197], [36642993, 36643080], [36651742, 36651874], [36657237, 36657360], [36665346, 36665578], [36669306, 36669403], [36670994, 36671163], [36674830, 36674934], [36677156, 36677334]]
NM_001256687 [[36572858, 36573004], [36581640, 36581736], [36583623, 36583709], [36589532, 36589649], [36597218, 36597287], [36599390, 36599483], [36607571, 36607670], [36630295, 36630364], [36633098, 36633197], [36642993, 36643080], [36651742, 36651874], [36657237, 36657360], [36665346, 36665578], [36669306, 36669403], [36670994, 36671163], [36674830, 36674934], [36677156, 36677680]] [[36581678, 36581736], [36583623, 36583709], [36589532, 36589649], [36597218, 36597287], [36599390, 36599483], [36607571, 36607670], [36630295, 36630364], [36633098, 36633197], [36642993, 36643080], [36651742, 36651874], [36657237, 36657360], [36665346, 36665578], [36669306, 36669403], [36670994, 36671163], [36674830, 36674934], [36677156, 36677334]]
NM_001256685 [[36572858, 36573004], [36581640, 36581736], [36583623, 36583709], [36589532, 36589649], [36594624, 36594768], [36597218, 36597287], [36599390, 36599483], [36607571, 36607670], [36630295, 36630364], [36633098, 36633197], [36642993, 36643080], [36651742, 36651874], [36665346, 36665578], [36669306, 36669403], [36670994, 36671163], [36674830, 36674934], [36677156, 36677680]] [[36581678, 36581736], [36583623, 36583709], [36589532, 36589649], [36594624, 36594768], [36597218, 36597287], [36599390, 36599483], [36607571, 36607670], [36630295, 36630364], [36633098, 36633197], [36642993, 36643080], [36651742, 36651874], [36665346, 36665578], [36669306, 36669403], [36670994, 36671163], [36674830, 36674934], [36677156, 36677334]]
NM_014791 [[36572858, 36573004], [36581640, 36581736], [36583623, 36583709], [36589532, 36589649], [36594624, 36594768], [36597218, 36597287], [36599390, 36599483], [36607571, 36607670], [36630295, 36630364], [36633098, 36633197], [36642993, 36643080], [36651742, 36651874], [36657237, 36657360], [36665346, 36665578], [36669306, 36669403], [36670994, 36671163], [36674830, 36674934], [36677156, 36677680]] [[36581678, 36581736], [36583623, 36583709], [36589532, 36589649], [36594624, 36594768], [36597218, 36597287], [36599390, 36599483], [36607571, 36607670], [36630295, 36630364], [36633098, 36633197], [36642993, 36643080], [36651742, 36651874], [36657237, 36657360], [36665346, 36665578], [36669306, 36669403], [36670994, 36671163], [36674830, 36674934], [36677156, 36677334]]
Promoter
Chrom Start End Description
chr9 36572851 36572932 CAGE_peak_1_at_MELK_5end
chr9 36572939 36572950 CAGE_peak_2_at_MELK_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr9 GH09I036572 36572200 36576400 2.2 [{'connected_gene': 'MELK', 'score': 550.77}, {'connected_gene': 'RGP1', 'score': 13.02}, {'connected_gene': 'ARHGEF39', 'score': 12.22}, {'connected_gene': 'ZCCHC7', 'score': 11.98}, {'connected_gene': 'GC09P036567', 'score': 0.44}, {'connected_gene': 'GC09M036678', 'score': 0.15}]
chr9 GH09I036415 36415447 36417187 0.38 [{'connected_gene': 'MELK', 'score': 11.17}, {'connected_gene': 'MRPS21P4', 'score': 0.44}, {'connected_gene': 'RNF38', 'score': 0.19}]
chr9 GH09I036924 36924977 36925093 0.64 [{'connected_gene': 'MELK', 'score': 2.33}, {'connected_gene': 'MIR4476', 'score': 0.29}, {'connected_gene': 'LOC105376032', 'score': 0.18}, {'connected_gene': 'PAX5', 'score': 0.14}]
chr9 GH09I036584 36584443 36585983 0.49 [{'connected_gene': 'MELK', 'score': 0.39}, {'connected_gene': 'GC09M036678', 'score': 0.16}]
chr9 GH09I036571 36571944 36572093 0.31 [{'connected_gene': 'MELK', 'score': 550.77}, {'connected_gene': 'GC09P036567', 'score': 0.77}]
chr9 GH09I036623 36623404 36623553 0.43 [{'connected_gene': 'MELK', 'score': 0.23}, {'connected_gene': 'GC09M036678', 'score': 0.22}]
chr9 GH09I036419 36419192 36420756 0.91 [{'connected_gene': 'RNF38', 'score': 19.0}, {'connected_gene': 'MELK', 'score': 12.27}, {'connected_gene': 'GNE', 'score': 9.94}, {'connected_gene': 'MRPS21P4', 'score': 0.44}]
chr9 GH09I036640 36640271 36641578 0.2 [{'connected_gene': 'RNF38', 'score': 4.44}, {'connected_gene': 'GC09M036678', 'score': 0.28}, {'connected_gene': 'MELK', 'score': 0.2}]
chr9 GH09I036665 36665767 36667529 1.01 [{'connected_gene': 'GC09M036678', 'score': 0.39}, {'connected_gene': 'MELK', 'score': 0.16}]
chr9 GH09I036624 36624376 36626173 0.58 [{'connected_gene': 'GC09M036678', 'score': 0.23}, {'connected_gene': 'MELK', 'score': 0.23}]