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
ENST00000382592 [[21547170, 21549503], [21553829, 21553936], [21555604, 21555787], [21557362, 21557945], [21562019, 21563443], [21565410, 21565543], [21619823, 21620369], [21635484, 21635686]] [[21549008, 21549503], [21553829, 21553936], [21555604, 21555787], [21557362, 21557945], [21562019, 21563443], [21565410, 21565543], [21619823, 21620165]]
ENST00000542899 [[21549008, 21549503], [21553829, 21553936], [21555604, 21555787], [21557362, 21557945], [21562019, 21563443], [21565410, 21565543], [21619823, 21620369], [21634268, 21634429]] [[21549008, 21549503], [21553829, 21553936], [21555604, 21555787], [21557362, 21557945], [21562019, 21563443], [21565410, 21565543], [21619823, 21620165]]
ENST00000472754 [[21563148, 21563443], [21565410, 21565543], [21597201, 21597268]] None
NM_014572 [[21547174, 21549503], [21553829, 21553936], [21555604, 21555787], [21557362, 21557945], [21562019, 21563443], [21565410, 21565543], [21619823, 21620369], [21635484, 21635722]] [[21549008, 21549503], [21553829, 21553936], [21555604, 21555787], [21557362, 21557945], [21562019, 21563443], [21565410, 21565543], [21619823, 21620165]]
Promoter
Chrom Start End Description
chr13 21634421 21634448 CAGE_peak_6_at_LATS2_5end
chr13 21634542 21634572 CAGE_peak_8_at_LATS2_5end
chr13 21635631 21635744 CAGE_peak_1_at_LATS2_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr13 GH13I020942 20942963 20944251 1.3 [{'connected_gene': 'XPO4', 'score': 11.86}, {'connected_gene': 'LATS2-AS1', 'score': 11.5}, {'connected_gene': 'LATS2', 'score': 1.35}, {'connected_gene': 'HNRNPA1P30', 'score': 0.44}, {'connected_gene': 'LINC00367', 'score': 0.44}, {'connected_gene': 'CNOT4P1', 'score': 0.34}]
chr13 GH13I020975 20975342 20975491 0.2 [{'connected_gene': 'RPSAP54', 'score': 0.39}, {'connected_gene': 'LATS2-AS1', 'score': 0.31}, {'connected_gene': 'LATS2', 'score': 0.17}]
chr13 GH13I021123 21123385 21124362 0.38 [{'connected_gene': 'LATS2', 'score': 11.93}, {'connected_gene': 'MRPL57', 'score': 11.74}, {'connected_gene': 'SKA3', 'score': 11.74}, {'connected_gene': 'SAP18', 'score': 4.85}, {'connected_gene': 'GC13M021127', 'score': 0.77}, {'connected_gene': 'ENSG00000275689', 'score': 0.77}, {'connected_gene': 'IPPKP1', 'score': 0.37}]
chr13 GH13I021078 21078391 21081420 1.24 [{'connected_gene': 'LATS2', 'score': 14.46}, {'connected_gene': 'RPS12P23', 'score': 0.39}, {'connected_gene': 'LOC105370104', 'score': 0.39}]
chr13 GH13I021073 21073935 21076800 1.09 [{'connected_gene': 'LATS2', 'score': 10.34}, {'connected_gene': 'LOC105370104', 'score': 0.44}, {'connected_gene': 'RPS12P23', 'score': 0.37}]
chr13 GH13I021110 21110882 21111031 0.67 [{'connected_gene': 'LATS2', 'score': 12.45}, {'connected_gene': 'ENSG00000252128', 'score': 12.25}, {'connected_gene': 'SAP18', 'score': 12.25}, {'connected_gene': 'MRPL57', 'score': 11.46}, {'connected_gene': 'SKA3', 'score': 11.46}, {'connected_gene': 'LATS2-AS1', 'score': 11.19}, {'connected_gene': 'IPPKP1', 'score': 0.44}, {'connected_gene': 'GC13M021127', 'score': 0.37}, {'connected_gene': 'ENSG00000275689', 'score': 0.37}]
chr13 GH13I021022 21022383 21023946 0.95 [{'connected_gene': 'LATS2', 'score': 17.69}, {'connected_gene': 'ENSG00000252128', 'score': 10.63}, {'connected_gene': 'SAP18', 'score': 10.63}, {'connected_gene': 'GC13M021039', 'score': 0.37}, {'connected_gene': 'LATS2-AS1', 'score': 0.37}, {'connected_gene': 'RNU4-9P', 'score': 0.37}]
chr13 GH13I021021 21021002 21021740 0.4 [{'connected_gene': 'LATS2', 'score': 12.03}, {'connected_gene': 'ENSG00000252128', 'score': 10.34}, {'connected_gene': 'SAP18', 'score': 10.34}, {'connected_gene': 'GC13M021039', 'score': 0.37}, {'connected_gene': 'LATS2-AS1', 'score': 0.37}, {'connected_gene': 'RNU4-9P', 'score': 0.37}]
chr13 GH13I021032 21032602 21035560 0.94 [{'connected_gene': 'LATS2', 'score': 17.38}, {'connected_gene': 'LATS2-AS1', 'score': 12.15}, {'connected_gene': 'ENSG00000252128', 'score': 11.0}, {'connected_gene': 'SAP18', 'score': 11.0}, {'connected_gene': 'MRPL57', 'score': 10.57}, {'connected_gene': 'SKA3', 'score': 10.57}, {'connected_gene': 'CRYL1', 'score': 9.24}, {'connected_gene': 'GC13M021039', 'score': 0.77}, {'connected_gene': 'RNU4-9P', 'score': 0.77}]
chr13 GH13I021053 21053065 21054567 0.52 [{'connected_gene': 'LATS2', 'score': 10.69}, {'connected_gene': 'LATS2-AS1', 'score': 10.59}, {'connected_gene': 'ENSG00000252128', 'score': 9.64}, {'connected_gene': 'SAP18', 'score': 9.64}, {'connected_gene': 'GC13M021039', 'score': 0.37}, {'connected_gene': 'RNU4-9P', 'score': 0.37}]
chr13 GH13I021043 21043134 21044631 1 [{'connected_gene': 'LATS2', 'score': 10.62}, {'connected_gene': 'GC13M021039', 'score': 0.44}, {'connected_gene': 'RNU4-9P', 'score': 0.44}]
chr13 GH13I021058 21058567 21058631 0.4 [{'connected_gene': 'LATS2', 'score': 0.77}, {'connected_gene': 'GC13M021039', 'score': 0.37}, {'connected_gene': 'RNU4-9P', 'score': 0.37}]
chr13 GH13I021059 21059474 21062691 2.21 [{'connected_gene': 'LATS2', 'score': 562.82}, {'connected_gene': 'GC13M021039', 'score': 0.34}, {'connected_gene': 'RNU4-9P', 'score': 0.34}]
chr13 GH13I021067 21067001 21067400 0.2 [{'connected_gene': 'LOC105370104', 'score': 550.77}, {'connected_gene': 'LATS2', 'score': 10.29}]
chr13 GH13I021105 21105583 21106814 0.51 [{'connected_gene': 'IPPKP1', 'score': 550.77}, {'connected_gene': 'LATS2', 'score': 20.43}, {'connected_gene': 'MRPL57', 'score': 11.65}, {'connected_gene': 'SKA3', 'score': 11.65}, {'connected_gene': 'RNU4-9P', 'score': 11.47}, {'connected_gene': 'LATS2-AS1', 'score': 11.37}, {'connected_gene': 'ENSG00000252128', 'score': 11.31}, {'connected_gene': 'SAP18', 'score': 11.31}, {'connected_gene': 'GC13M021127', 'score': 0.34}, {'connected_gene': 'ENSG00000275689', 'score': 0.34}]
chr13 GH13I020996 20996655 20999380 0.94 [{'connected_gene': 'LATS2-AS1', 'score': 0.44}, {'connected_gene': 'RPSAP54', 'score': 0.28}, {'connected_gene': 'LATS2', 'score': 0.21}]
chr13 GH13I021004 21004445 21005345 0.31 [{'connected_gene': 'LATS2-AS1', 'score': 550.77}, {'connected_gene': 'LATS2', 'score': 5.41}, {'connected_gene': 'RPSAP54', 'score': 0.26}]
chr13 GH13I021031 21031601 21031800 0.2 [{'connected_gene': 'LATS2-AS1', 'score': 12.15}, {'connected_gene': 'LATS2', 'score': 12.05}, {'connected_gene': 'ENSG00000252128', 'score': 11.0}, {'connected_gene': 'SAP18', 'score': 11.0}, {'connected_gene': 'MRPL57', 'score': 10.57}, {'connected_gene': 'SKA3', 'score': 10.57}, {'connected_gene': 'CRYL1', 'score': 9.24}, {'connected_gene': 'GC13M021039', 'score': 0.44}, {'connected_gene': 'RNU4-9P', 'score': 0.44}]
chr13 GH13I021035 21035601 21035800 0.51 [{'connected_gene': 'LATS2-AS1', 'score': 12.13}, {'connected_gene': 'LATS2', 'score': 12.05}, {'connected_gene': 'ENSG00000252128', 'score': 11.0}, {'connected_gene': 'SAP18', 'score': 11.0}, {'connected_gene': 'MRPL57', 'score': 10.57}, {'connected_gene': 'SKA3', 'score': 10.57}, {'connected_gene': 'CRYL1', 'score': 9.24}, {'connected_gene': 'GC13M021039', 'score': 0.77}, {'connected_gene': 'RNU4-9P', 'score': 0.77}]
chr13 GH13I021054 21054654 21056208 0.58 [{'connected_gene': 'LATS2-AS1', 'score': 10.58}, {'connected_gene': 'LATS2', 'score': 9.77}, {'connected_gene': 'ENSG00000252128', 'score': 9.65}, {'connected_gene': 'SAP18', 'score': 9.64}, {'connected_gene': 'GC13M021039', 'score': 0.37}, {'connected_gene': 'RNU4-9P', 'score': 0.37}]
chr13 GH13I021049 21049022 21049171 0.31 [{'connected_gene': 'LATS2-AS1', 'score': 11.64}, {'connected_gene': 'GC13M021039', 'score': 0.39}, {'connected_gene': 'LATS2', 'score': 0.39}, {'connected_gene': 'RNU4-9P', 'score': 0.39}]
chr13 GH13I021050 21050626 21051084 0.63 [{'connected_gene': 'LATS2-AS1', 'score': 11.63}, {'connected_gene': 'LATS2', 'score': 9.74}, {'connected_gene': 'GC13M021039', 'score': 0.39}, {'connected_gene': 'RNU4-9P', 'score': 0.39}]
chr13 GH13I021046 21046823 21047700 0.43 [{'connected_gene': 'LATS2-AS1', 'score': 11.64}, {'connected_gene': 'LATS2', 'score': 10.5}, {'connected_gene': 'GC13M021039', 'score': 0.44}, {'connected_gene': 'RNU4-9P', 'score': 0.44}]
chr13 GH13I021051 21049182 21049211 0.31 [{'connected_gene': 'LATS2-AS1', 'score': 11.64}, {'connected_gene': 'GC13M021039', 'score': 0.39}, {'connected_gene': 'LATS2', 'score': 0.39}, {'connected_gene': 'RNU4-9P', 'score': 0.39}]
chr13 GH13I021045 21045201 21045600 0.51 [{'connected_gene': 'LATS2-AS1', 'score': 11.64}, {'connected_gene': 'GC13M021039', 'score': 0.44}, {'connected_gene': 'RNU4-9P', 'score': 0.44}, {'connected_gene': 'LATS2', 'score': 0.37}]
chr13 GH13I021068 21068988 21072177 1.24 [{'connected_gene': 'RNU2-7P', 'score': 11.15}, {'connected_gene': 'LATS2', 'score': 9.54}, {'connected_gene': 'CRYL1', 'score': 4.22}, {'connected_gene': 'LOC105370104', 'score': 0.77}, {'connected_gene': 'RPS12P23', 'score': 0.34}]
chr13 GH13I020993 20993203 20994209 1.03 [{'connected_gene': 'RNU4-9P', 'score': 11.46}, {'connected_gene': 'ENSG00000252128', 'score': 10.49}, {'connected_gene': 'SAP18', 'score': 10.49}, {'connected_gene': 'LATS2-AS1', 'score': 0.39}, {'connected_gene': 'RPSAP54', 'score': 0.29}, {'connected_gene': 'LATS2', 'score': 0.2}]
chr13 GH13I021010 21010260 21018800 1.35 [{'connected_gene': 'RPS7P10', 'score': 12.61}, {'connected_gene': 'RNU2-7P', 'score': 10.04}, {'connected_gene': 'LATS2', 'score': 5.83}, {'connected_gene': 'LATS2-AS1', 'score': 0.44}, {'connected_gene': 'GC13M021039', 'score': 0.34}, {'connected_gene': 'RNU4-9P', 'score': 0.34}]
chr13 GH13I021124 21124702 21125201 0.79 [{'connected_gene': 'GC13M021127', 'score': 550.77}, {'connected_gene': 'ENSG00000275689', 'score': 550.77}, {'connected_gene': 'LATS2', 'score': 11.93}, {'connected_gene': 'MRPL57', 'score': 11.74}, {'connected_gene': 'SKA3', 'score': 11.74}, {'connected_gene': 'IPPKP1', 'score': 0.34}]
chr13 GH13I020989 20989077 20990331 0.2 [{'connected_gene': 'ENSG00000252128', 'score': 10.33}, {'connected_gene': 'SAP18', 'score': 10.33}, {'connected_gene': 'LATS2-AS1', 'score': 0.37}, {'connected_gene': 'RPSAP54', 'score': 0.31}, {'connected_gene': 'LATS2', 'score': 0.19}]
chr13 GH13I020990 20990650 20992317 0.38 [{'connected_gene': 'ENSG00000252128', 'score': 10.34}, {'connected_gene': 'SAP18', 'score': 10.34}, {'connected_gene': 'LATS2-AS1', 'score': 0.39}, {'connected_gene': 'RPSAP54', 'score': 0.29}, {'connected_gene': 'LATS2', 'score': 0.19}]
chr13 GH13I021020 21020801 21021000 0.4 [{'connected_gene': 'GC13M021039', 'score': 0.37}, {'connected_gene': 'LATS2-AS1', 'score': 0.37}, {'connected_gene': 'RNU4-9P', 'score': 0.37}, {'connected_gene': 'LATS2', 'score': 0.26}]
chr13 GH13I021038 21038002 21041828 0.97 [{'connected_gene': 'GC13M021039', 'score': 550.77}, {'connected_gene': 'RNU4-9P', 'score': 550.77}, {'connected_gene': 'LATS2', 'score': 21.96}, {'connected_gene': 'LATS2-AS1', 'score': 12.13}, {'connected_gene': 'ENSG00000252128', 'score': 11.0}, {'connected_gene': 'SAP18', 'score': 11.0}, {'connected_gene': 'MRPL57', 'score': 10.58}, {'connected_gene': 'SKA3', 'score': 10.58}, {'connected_gene': 'CRYL1', 'score': 9.24}]