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
ENST00000339420 [[44956748, 44959635], [44970797, 44970928], [44974609, 44974691], [44975379, 44975476], [44986659, 44986688]] [[44959386, 44959635], [44970797, 44970928], [44974609, 44974691], [44975379, 44975476], [44986659, 44986688]]
ENST00000466084 [[44958900, 44959635], [44960284, 44960830]] None
ENST00000443879 [[44961469, 44961829], [44970797, 44970844]] [[44961694, 44961829], [44970797, 44970844]]
ENST00000296127 [[44966337, 44968339], [44970797, 44970928], [44974398, 44974482], [44974609, 44974691], [44975379, 44975476], [44986659, 44986784], [45000622, 45000952], [45017424, 45017674]] [[44968180, 44968339], [44970797, 44970928], [44974398, 44974482], [44974609, 44974691], [44975379, 44975476], [44986659, 44986784], [45000622, 45000928]]
ENST00000424952 [[44966662, 44968339], [44970797, 44970928], [44974609, 44974691], [44975379, 44975476], [44986659, 44986784], [45000622, 45000952], [45017424, 45017669]] [[44968180, 44968339], [44970797, 44970928], [44974609, 44974691], [44975379, 44975476], [44986659, 44986784], [45000622, 45000928]]
ENST00000479314 [[44968014, 44968339], [44970797, 44970928], [44974398, 44974482], [44974609, 44974941]] None
ENST00000342790 [[44968104, 44968339], [44970797, 44970928], [44974609, 44974691], [44975379, 44975476], [44986659, 44986784], [45000079, 45000177], [45000618, 45000952], [45017424, 45017658]] [[44968180, 44968339], [44970797, 44970928], [44974609, 44974691], [44975379, 44975476], [44986659, 44986784], [45000079, 45000177], [45000618, 45000928]]
ENST00000433512 [[44970797, 44970928], [44974609, 44974691], [44975379, 44975476], [44986659, 44986821]] [[44970797, 44970928], [44974609, 44974691], [44975379, 44975451]]
ENST00000455235 [[44974629, 44974691], [44975379, 44975476], [44986659, 44986784], [45017424, 45017677]] [[44974629, 44974691], [44975379, 44975451]]
ENST00000419642 [[44974679, 44974691], [44975379, 44975476], [44986659, 44986784], [45000618, 45000924]] [[44986755, 44986784], [45000618, 45000924]]
ENST00000478669 [[44986659, 44986784], [45000622, 45000952], [45011100, 45011423]] None
NM_016598 [[44956752, 44968339], [44970797, 44970928], [44974398, 44974482], [44974609, 44974691], [44975379, 44975476], [44986659, 44986784], [45000622, 45000952], [45017424, 45017674]] [[44968180, 44968339], [44970797, 44970928], [44974398, 44974482], [44974609, 44974691], [44975379, 44975476], [44986659, 44986784], [45000622, 45000928]]
NM_001135179 [[44956752, 44968339], [44970797, 44970928], [44974609, 44974691], [44975379, 44975476], [44986659, 44986784], [45000622, 45000952], [45017424, 45017674]] [[44968180, 44968339], [44970797, 44970928], [44974609, 44974691], [44975379, 44975476], [44986659, 44986784], [45000622, 45000928]]
NM_001330761 [[44956752, 44968339], [44970797, 44970928], [44974609, 44974691], [44975379, 44975476], [44986659, 44986784], [45000079, 45000177], [45000618, 45000952], [45017424, 45017677]] [[44968180, 44968339], [44970797, 44970928], [44974609, 44974691], [44975379, 44975476], [44986659, 44986784], [45000079, 45000177], [45000618, 45000928]]
Promoter
Chrom Start End Description
chr3 44974953 44974981 CAGE_peak_12_at_ZDHHC3_5end
chr3 44975003 44975027 CAGE_peak_9_at_ZDHHC3_5end
chr3 45000781 45000790 CAGE_peak_11_at_ZDHHC3_5end
chr3 45000840 45000861 CAGE_peak_4_at_ZDHHC3_5end
chr3 45000909 45000933 CAGE_peak_2_at_ZDHHC3_5end
chr3 45011447 45011458 CAGE_peak_8_at_ZDHHC3_5end
chr3 45017609 45017687 CAGE_peak_1_at_ZDHHC3_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I045130 45130418 45141564 1.72 [{'connected_gene': 'ZNF502', 'score': 25.82}, {'connected_gene': 'ZNF852', 'score': 25.25}, {'connected_gene': 'RN7SL145P', 'score': 24.84}, {'connected_gene': 'ZNF35', 'score': 19.15}, {'connected_gene': 'ZNF197', 'score': 12.87}, {'connected_gene': 'RNU5B-3P', 'score': 10.74}, {'connected_gene': 'CLEC3B', 'score': 10.71}, {'connected_gene': 'TMEM158', 'score': 10.51}, {'connected_gene': 'SACM1L', 'score': 10.19}, {'connected_gene': 'ZDHHC3', 'score': 10.13}, {'connected_gene': 'ZNF445', 'score': 9.97}, {'connected_gene': 'ENSG00000202268', 'score': 9.78}, {'connected_gene': 'CDCP1', 'score': 9.36}, {'connected_gene': 'LOC105377059', 'score': 0.2}]
chr3 GH03I045052 45052688 45066370 1.72 [{'connected_gene': 'ZNF502', 'score': 29.2}, {'connected_gene': 'ZNF852', 'score': 25.25}, {'connected_gene': 'RN7SL145P', 'score': 24.84}, {'connected_gene': 'CLEC3B', 'score': 19.26}, {'connected_gene': 'ZNF35', 'score': 19.16}, {'connected_gene': 'CDCP1', 'score': 16.37}, {'connected_gene': 'ZNF197', 'score': 15.66}, {'connected_gene': 'ZNF660', 'score': 15.3}, {'connected_gene': 'EXOSC7', 'score': 12.21}, {'connected_gene': 'RNU5B-3P', 'score': 11.07}, {'connected_gene': 'TMEM158', 'score': 10.63}, {'connected_gene': 'ENSG00000202268', 'score': 10.23}, {'connected_gene': 'ZDHHC3', 'score': 10.2}, {'connected_gene': 'SACM1L', 'score': 10.19}, {'connected_gene': 'ZNF445', 'score': 9.97}, {'connected_gene': 'LIMD1', 'score': 9.48}, {'connected_gene': 'TMEM42', 'score': 6.46}, {'connected_gene': 'KIAA1143', 'score': 5.3}, {'connected_gene': 'ZNF501', 'score': 4.21}, {'connected_gene': 'LOC105377059', 'score': 0.44}]
chr3 GH03I044712 44712049 44713600 1.83 [{'connected_gene': 'ZNF502', 'score': 578.17}, {'connected_gene': 'SOCS5P3', 'score': 550.77}, {'connected_gene': 'ZNF852', 'score': 13.1}, {'connected_gene': 'ZNF35', 'score': 10.96}, {'connected_gene': 'ZDHHC3', 'score': 10.09}, {'connected_gene': 'LOC105377056', 'score': 0.37}]
chr3 GH03I044648 44648109 44649801 1.94 [{'connected_gene': 'ZNF35', 'score': 561.52}, {'connected_gene': 'ZNF852', 'score': 13.13}, {'connected_gene': 'RPS24P8', 'score': 12.77}, {'connected_gene': 'ZNF501', 'score': 12.23}, {'connected_gene': 'ZNF197', 'score': 10.38}, {'connected_gene': 'ZNF502', 'score': 10.09}, {'connected_gene': 'ZDHHC3', 'score': 10.08}, {'connected_gene': 'KIAA1143', 'score': 5.05}, {'connected_gene': 'ENSG00000272077', 'score': 0.37}, {'connected_gene': 'ENSG00000236869', 'score': 0.28}]
chr3 GH03I045001 45001114 45001532 0.52 [{'connected_gene': 'CLEC3B', 'score': 550.77}, {'connected_gene': 'ZNF660', 'score': 9.98}, {'connected_gene': 'ZDHHC3', 'score': 0.31}, {'connected_gene': 'EXOSC7', 'score': 0.31}]
chr3 GH03I045000 45000282 45001092 0.52 [{'connected_gene': 'CLEC3B', 'score': 550.77}, {'connected_gene': 'EXOSC7', 'score': 6.34}, {'connected_gene': 'ZDHHC3', 'score': 0.34}]
chr3 GH03I044972 44971172 44971727 0.46 [{'connected_gene': 'CLEC3B', 'score': 10.63}, {'connected_gene': 'EXOSC7', 'score': 10.5}, {'connected_gene': 'RNU5B-3P', 'score': 10.06}, {'connected_gene': 'ZDHHC3', 'score': 0.77}, {'connected_gene': 'RPL12P44', 'score': 0.29}]
chr3 GH03I044978 44978463 44978924 0.38 [{'connected_gene': 'CLEC3B', 'score': 11.37}, {'connected_gene': 'RNU5B-3P', 'score': 9.69}, {'connected_gene': 'ZDHHC3', 'score': 0.77}, {'connected_gene': 'EXOSC7', 'score': 0.77}]
chr3 GH03I044970 44970969 44971118 0.52 [{'connected_gene': 'CLEC3B', 'score': 10.63}, {'connected_gene': 'RNU5B-3P', 'score': 10.06}, {'connected_gene': 'EXOSC7', 'score': 6.17}, {'connected_gene': 'ZDHHC3', 'score': 0.44}, {'connected_gene': 'RPL12P44', 'score': 0.29}]
chr3 GH03I044962 44962531 44970626 1.35 [{'connected_gene': 'TGM4', 'score': 16.63}, {'connected_gene': 'RN7SL145P', 'score': 12.33}, {'connected_gene': 'ZNF852', 'score': 11.62}, {'connected_gene': 'CLEC3B', 'score': 11.24}, {'connected_gene': 'ZNF445', 'score': 11.23}, {'connected_gene': 'LIMD1', 'score': 11.19}, {'connected_gene': 'EXOSC7', 'score': 10.83}, {'connected_gene': 'ENSG00000235845', 'score': 10.65}, {'connected_gene': 'ZNF502', 'score': 10.41}, {'connected_gene': 'RNU5B-3P', 'score': 10.06}, {'connected_gene': 'ZDHHC3', 'score': 0.44}, {'connected_gene': 'RPL12P44', 'score': 0.31}]
chr3 GH03I044971 44971898 44972277 0.2 [{'connected_gene': 'ZDHHC3', 'score': 0.77}, {'connected_gene': 'EXOSC7', 'score': 0.77}, {'connected_gene': 'RPL12P44', 'score': 0.29}]
chr3 GH03I044952 44952829 44952978 0.58 [{'connected_gene': 'ZDHHC3', 'score': 11.78}, {'connected_gene': 'EXOSC7', 'score': 11.78}, {'connected_gene': 'RPL12P44', 'score': 0.37}]
chr3 GH03I044509 44509381 44512017 1.98 [{'connected_gene': 'ZNF852', 'score': 563.79}, {'connected_gene': 'ZNF660', 'score': 50.7}, {'connected_gene': 'ZNF197', 'score': 18.77}, {'connected_gene': 'ZNF35', 'score': 10.87}, {'connected_gene': 'ZDHHC3', 'score': 10.07}, {'connected_gene': 'ZNF502', 'score': 9.96}, {'connected_gene': 'EI24P3', 'score': 0.37}]
chr3 GH03I045269 45269566 45270695 0.89 [{'connected_gene': 'ZNF852', 'score': 13.04}, {'connected_gene': 'TMEM158', 'score': 11.24}, {'connected_gene': 'ZNF35', 'score': 10.77}, {'connected_gene': 'ZDHHC3', 'score': 10.09}, {'connected_gene': 'RN7SL145P', 'score': 10.05}, {'connected_gene': 'ZNF502', 'score': 9.91}, {'connected_gene': 'CCR3', 'score': 4.04}, {'connected_gene': 'ENSG00000202268', 'score': 0.39}, {'connected_gene': 'GC03M045255', 'score': 0.39}, {'connected_gene': 'LOC105377061', 'score': 0.28}]
chr3 GH03I044974 44974043 44977602 2.21 [{'connected_gene': 'EXOSC7', 'score': 566.38}, {'connected_gene': 'ZDHHC3', 'score': 554.91}, {'connected_gene': 'ZNF445', 'score': 16.55}, {'connected_gene': 'RN7SL145P', 'score': 14.75}, {'connected_gene': 'CLEC3B', 'score': 11.34}, {'connected_gene': 'ZNF502', 'score': 11.08}, {'connected_gene': 'ZKSCAN7', 'score': 10.78}, {'connected_gene': 'ZNF852', 'score': 10.5}, {'connected_gene': 'RNU5B-3P', 'score': 9.69}, {'connected_gene': 'KIAA1143', 'score': 9.3}, {'connected_gene': 'ZNF197', 'score': 6.24}]
chr3 GH03I044960 44960069 44961169 0.49 [{'connected_gene': 'EXOSC7', 'score': 10.36}, {'connected_gene': 'ZNF660', 'score': 4.5}, {'connected_gene': 'ZDHHC3', 'score': 0.37}, {'connected_gene': 'RPL12P44', 'score': 0.34}]
chr3 GH03I044988 44988915 44990349 0.2 [{'connected_gene': 'EXOSC7', 'score': 16.76}, {'connected_gene': 'ZNF660', 'score': 14.84}, {'connected_gene': 'RNU5B-3P', 'score': 11.12}, {'connected_gene': 'LIMD1', 'score': 9.39}, {'connected_gene': 'ZDHHC3', 'score': 0.39}, {'connected_gene': 'CLEC3B', 'score': 0.39}]
chr3 GH03I044980 44980474 44984658 1.13 [{'connected_gene': 'EXOSC7', 'score': 16.8}, {'connected_gene': 'ZNF660', 'score': 11.47}, {'connected_gene': 'RNU5B-3P', 'score': 10.69}, {'connected_gene': 'ENSG00000235845', 'score': 10.2}, {'connected_gene': 'TGM4', 'score': 10.17}, {'connected_gene': 'TMEM42', 'score': 5.8}, {'connected_gene': 'ZDHHC3', 'score': 0.44}, {'connected_gene': 'CLEC3B', 'score': 0.37}]
chr3 GH03I044954 44954308 44955599 0.99 [{'connected_gene': 'EXOSC7', 'score': 6.29}, {'connected_gene': 'RPL12P44', 'score': 0.37}, {'connected_gene': 'ZDHHC3', 'score': 0.34}]
chr3 GH03I044992 44992069 44997360 1.57 [{'connected_gene': 'EXOSC7', 'score': 16.32}, {'connected_gene': 'RNU5B-3P', 'score': 11.14}, {'connected_gene': 'CLEC3B', 'score': 10.23}, {'connected_gene': 'LIMD1', 'score': 9.39}, {'connected_gene': 'ENSG00000202268', 'score': 9.3}, {'connected_gene': 'ZNF502', 'score': 8.38}, {'connected_gene': 'ZNF35', 'score': 2.08}, {'connected_gene': 'ZNF660', 'score': 1.63}, {'connected_gene': 'ZDHHC3', 'score': 0.37}]
chr3 GH03I045687 45687801 45695990 2.51 [{'connected_gene': 'SACM1L', 'score': 578.12}, {'connected_gene': 'ZNF502', 'score': 27.74}, {'connected_gene': 'LIMD1', 'score': 21.39}, {'connected_gene': 'RN7SL145P', 'score': 19.37}, {'connected_gene': 'RPS24P8', 'score': 15.28}, {'connected_gene': 'ZNF501', 'score': 12.2}, {'connected_gene': 'ZDHHC3', 'score': 11.78}, {'connected_gene': 'LARS2-AS1', 'score': 10.03}, {'connected_gene': 'CCR9', 'score': 8.89}, {'connected_gene': 'SDHDP4', 'score': 8.89}, {'connected_gene': 'TRR-ACG2-1', 'score': 0.77}, {'connected_gene': 'LIMD1-AS1', 'score': 0.77}, {'connected_gene': 'GC03M045689', 'score': 0.77}]
chr3 GH03I044729 44729001 44730400 2.03 [{'connected_gene': 'ZNF501', 'score': 550.77}, {'connected_gene': 'LOC105377056', 'score': 550.77}, {'connected_gene': 'KIAA1143', 'score': 20.81}, {'connected_gene': 'ZNF852', 'score': 13.09}, {'connected_gene': 'ZNF35', 'score': 10.92}, {'connected_gene': 'ZNF502', 'score': 10.24}, {'connected_gene': 'ZDHHC3', 'score': 10.09}, {'connected_gene': 'PIR43736', 'score': 0.37}]
chr3 GH03I044624 44624201 44626393 2.02 [{'connected_gene': 'ZNF197', 'score': 584.76}, {'connected_gene': 'ZNF197-AS1', 'score': 550.77}, {'connected_gene': 'ZNF35', 'score': 21.81}, {'connected_gene': 'ZNF852', 'score': 21.56}, {'connected_gene': 'KIAA1143', 'score': 14.13}, {'connected_gene': 'ZNF660', 'score': 11.28}, {'connected_gene': 'ZDHHC3', 'score': 10.08}, {'connected_gene': 'ZNF502', 'score': 10.05}, {'connected_gene': 'ZNF445', 'score': 10.0}, {'connected_gene': 'ENSG00000236869', 'score': 0.21}]
chr3 GH03I044955 44955801 44956000 0.2 [{'connected_gene': 'RPL12P44', 'score': 0.37}, {'connected_gene': 'EXOSC7', 'score': 0.37}, {'connected_gene': 'ZDHHC3', 'score': 0.34}]
chr3 GH03I044941 44941752 44943010 0.46 [{'connected_gene': 'ENSG00000235845', 'score': 10.96}, {'connected_gene': 'TGM4', 'score': 10.9}, {'connected_gene': 'EXOSC7', 'score': 10.69}, {'connected_gene': 'RPL12P44', 'score': 0.77}, {'connected_gene': 'ZDHHC3', 'score': 0.29}]
chr3 GH03I045592 45592614 45598684 1.75 [{'connected_gene': 'PIR32515', 'score': 550.77}, {'connected_gene': 'PIR41902', 'score': 550.77}, {'connected_gene': 'SACM1L', 'score': 12.6}, {'connected_gene': 'ZNF35', 'score': 10.77}, {'connected_gene': 'RN7SL145P', 'score': 10.12}, {'connected_gene': 'ZDHHC3', 'score': 10.05}, {'connected_gene': 'ZNF502', 'score': 9.9}, {'connected_gene': 'LARS2', 'score': 8.12}, {'connected_gene': 'LIMD1', 'score': 6.77}]
chr3 GH03I044685 44685000 44686200 1.26 [{'connected_gene': 'ENSG00000236869', 'score': 550.77}, {'connected_gene': 'LOC101928592', 'score': 550.77}, {'connected_gene': 'ZNF197', 'score': 24.18}, {'connected_gene': 'ZNF35', 'score': 21.76}, {'connected_gene': 'KIAA1143', 'score': 15.25}, {'connected_gene': 'ZNF852', 'score': 13.11}, {'connected_gene': 'KIF15', 'score': 11.25}, {'connected_gene': 'ZNF501', 'score': 11.14}, {'connected_gene': 'ZNF660', 'score': 10.61}, {'connected_gene': 'ZNF502', 'score': 10.19}, {'connected_gene': 'ZKSCAN7', 'score': 10.17}, {'connected_gene': 'ZDHHC3', 'score': 10.09}, {'connected_gene': 'ZNF445', 'score': 8.93}, {'connected_gene': 'PIR62310', 'score': 0.77}]

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