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
ENST00000259727 [[16238810, 16239011], [16247072, 16247192], [16250514, 16250598], [16254792, 16254966], [16274645, 16274727], [16279014, 16279121], [16286023, 16286066], [16290692, 16290852], [16295236, 16295780]] [[16238924, 16239011], [16247072, 16247192], [16250514, 16250598], [16254792, 16254966], [16274645, 16274727], [16279014, 16279121], [16286023, 16286066], [16290692, 16290852], [16295236, 16295417]]
ENST00000543191 [[16258203, 16258352], [16286023, 16286066], [16290692, 16290852], [16295236, 16295559]] None
ENST00000544145 [[16289748, 16289799], [16290692, 16290852], [16295236, 16295775]] None
ENST00000540478 [[16290175, 16290852], [16295236, 16295352]] None
NM_006877 [[16238810, 16239011], [16247072, 16247192], [16250514, 16250598], [16254792, 16254966], [16274645, 16274727], [16279014, 16279121], [16286023, 16286066], [16290692, 16290852], [16295236, 16295780]] [[16238924, 16239011], [16247072, 16247192], [16250514, 16250598], [16254792, 16254966], [16274645, 16274727], [16279014, 16279121], [16286023, 16286066], [16290692, 16290852], [16295236, 16295417]]
Promoter
Chrom Start End Description
chr6 16238704 16238715 CAGE_peak_4_at_GMPR_5end
chr6 16238786 16238854 CAGE_peak_1_at_GMPR_5end
chr6 16238868 16238879 CAGE_peak_3_at_GMPR_5end
chr6 16238880 16238915 CAGE_peak_2_at_GMPR_5end
chr6 16289265 16289270 CAGE_peak_5_at_GMPR_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I016782 16782844 16784311 0.6 [{'connected_gene': 'ATXN1', 'score': 10.85}, {'connected_gene': 'ENSG00000229931', 'score': 10.85}, {'connected_gene': 'GMPR', 'score': 4.92}, {'connected_gene': 'ENSG00000272341', 'score': 0.37}, {'connected_gene': 'GC06P016871', 'score': 0.17}]
chr6 GH06I016267 16267553 16268393 1.17 [{'connected_gene': 'MYLIP', 'score': 11.02}, {'connected_gene': 'GMPR', 'score': 9.29}, {'connected_gene': 'ENSG00000282024', 'score': 0.77}, {'connected_gene': 'GC06M016363', 'score': 0.15}]
chr6 GH06I015689 15689900 15691999 1.24 [{'connected_gene': 'MYLIP', 'score': 12.15}, {'connected_gene': 'RNU6-1114P', 'score': 11.72}, {'connected_gene': 'GMPR', 'score': 10.27}, {'connected_gene': 'DTNBP1', 'score': 6.34}, {'connected_gene': 'PIR51786', 'score': 0.2}, {'connected_gene': 'LOC102724520', 'score': 0.2}]
chr6 GH06I016214 16214210 16216820 1.67 [{'connected_gene': 'GMPR', 'score': 11.89}, {'connected_gene': 'MYLIP', 'score': 2.44}, {'connected_gene': 'PIR38615', 'score': 0.39}, {'connected_gene': 'RNU6-1114P', 'score': 0.39}]
chr6 GH06I016198 16198169 16198935 0.43 [{'connected_gene': 'GMPR', 'score': 5.7}, {'connected_gene': 'RNU6-1114P', 'score': 0.44}, {'connected_gene': 'MRPL42P2', 'score': 0.31}]
chr6 GH06I016189 16189133 16191409 0.51 [{'connected_gene': 'GMPR', 'score': 5.16}, {'connected_gene': 'RNU6-1114P', 'score': 0.39}, {'connected_gene': 'MRPL42P2', 'score': 0.37}]
chr6 GH06I016191 16191611 16192661 0.49 [{'connected_gene': 'GMPR', 'score': 5.16}, {'connected_gene': 'RNU6-1114P', 'score': 0.39}, {'connected_gene': 'MRPL42P2', 'score': 0.34}]
chr6 GH06I016222 16222739 16223207 0.31 [{'connected_gene': 'GMPR', 'score': 8.83}, {'connected_gene': 'PIR38615', 'score': 0.44}, {'connected_gene': 'RNU6-1114P', 'score': 0.37}]
chr6 GH06I016225 16223423 16223623 0.43 [{'connected_gene': 'GMPR', 'score': 8.87}, {'connected_gene': 'PIR38615', 'score': 0.44}, {'connected_gene': 'RNU6-1114P', 'score': 0.37}]
chr6 GH06I016281 16281687 16282533 0.54 [{'connected_gene': 'GMPR', 'score': 6.25}, {'connected_gene': 'ENSG00000282024', 'score': 0.37}, {'connected_gene': 'GC06M016363', 'score': 0.18}]
chr6 GH06I016276 16276350 16279016 1.36 [{'connected_gene': 'GMPR', 'score': 7.39}, {'connected_gene': 'ENSG00000282024', 'score': 0.39}, {'connected_gene': 'GC06M016363', 'score': 0.17}]
chr6 GH06I016236 16236245 16240582 2.45 [{'connected_gene': 'GMPR', 'score': 550.77}, {'connected_gene': 'ENSG00000207193', 'score': 0.44}, {'connected_gene': 'GC06M016233', 'score': 0.44}]
chr6 GH06I016269 16269100 16271205 0.99 [{'connected_gene': 'GMPR', 'score': 7.95}, {'connected_gene': 'ENSG00000282024', 'score': 0.44}, {'connected_gene': 'GC06M016363', 'score': 0.16}]
chr6 GH06I016257 16257581 16259302 1.04 [{'connected_gene': 'GMPR', 'score': 9.36}, {'connected_gene': 'ENSG00000282024', 'score': 0.44}]
chr6 GH06I016241 16241550 16241699 0.82 [{'connected_gene': 'GMPR', 'score': 0.77}, {'connected_gene': 'ENSG00000282024', 'score': 0.34}]
chr6 GH06I016250 16250130 16250279 0.43 [{'connected_gene': 'GMPR', 'score': 0.39}, {'connected_gene': 'ENSG00000282024', 'score': 0.39}]
chr6 GH06I016240 16240710 16241507 0.9 [{'connected_gene': 'GMPR', 'score': 0.77}, {'connected_gene': 'ENSG00000282024', 'score': 0.34}]
chr6 GH06I016254 16254226 16255009 0.2 [{'connected_gene': 'GMPR', 'score': 6.08}, {'connected_gene': 'ENSG00000282024', 'score': 0.44}]
chr6 GH06I016253 16253257 16253993 0.43 [{'connected_gene': 'GMPR', 'score': 9.35}, {'connected_gene': 'ENSG00000282024', 'score': 0.39}]
chr6 GH06I016242 16242650 16246141 1.39 [{'connected_gene': 'GMPR', 'score': 7.27}, {'connected_gene': 'ENSG00000282024', 'score': 0.34}]
chr6 GH06I016204 16204649 16207299 1.36 [{'connected_gene': 'RNU6-1114P', 'score': 550.77}, {'connected_gene': 'GMPR', 'score': 20.93}, {'connected_gene': 'PIR38615', 'score': 0.34}]
chr6 GH06I016291 16291533 16293321 0.49 [{'connected_gene': 'ENSG00000282024', 'score': 0.31}, {'connected_gene': 'GMPR', 'score': 0.23}, {'connected_gene': 'GC06M016363', 'score': 0.19}]
chr6 GH06I016256 16256592 16256868 0.59 [{'connected_gene': 'ENSG00000282024', 'score': 0.44}, {'connected_gene': 'GMPR', 'score': 0.37}]
chr6 GH06I016272 16272628 16273911 0.52 [{'connected_gene': 'ENSG00000282024', 'score': 0.44}, {'connected_gene': 'GMPR', 'score': 0.29}, {'connected_gene': 'GC06M016363', 'score': 0.16}]
chr6 GH06I016285 16285039 16286481 0.69 [{'connected_gene': 'ENSG00000282024', 'score': 0.34}, {'connected_gene': 'GMPR', 'score': 0.25}, {'connected_gene': 'GC06M016363', 'score': 0.18}]
chr6 GH06I016283 16283224 16285021 0.2 [{'connected_gene': 'ENSG00000282024', 'score': 0.37}, {'connected_gene': 'GMPR', 'score': 0.25}, {'connected_gene': 'GC06M016363', 'score': 0.18}]
chr6 GH06I016258 16256877 16257330 0.38 [{'connected_gene': 'ENSG00000282024', 'score': 0.44}, {'connected_gene': 'GMPR', 'score': 0.37}]
chr6 GH06I016229 16229201 16229600 0.77 [{'connected_gene': 'PIR38615', 'score': 550.77}, {'connected_gene': 'PIR43280', 'score': 550.77}, {'connected_gene': 'RNU6-1114P', 'score': 11.18}, {'connected_gene': 'GMPR', 'score': 9.27}]
chr6 GH06I016156 16156692 16162640 0.81 [{'connected_gene': 'GC06P016164', 'score': 550.77}, {'connected_gene': 'GC06P016163', 'score': 550.77}, {'connected_gene': 'LOC100131159', 'score': 550.77}, {'connected_gene': 'PIR35988', 'score': 550.77}, {'connected_gene': 'MYLIP', 'score': 11.5}, {'connected_gene': 'RNU6-1114P', 'score': 10.97}, {'connected_gene': 'GMPR', 'score': 4.91}, {'connected_gene': 'GC06M016150', 'score': 0.39}]