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
ENST00000506783 [[64345724, 64346055], [64394029, 64395812], [64401626, 64401933], [64404470, 64404654], [64408112, 64408257], [64408338, 64408495], [64410239, 64410356], [64412397, 64412529], [64413425, 64413561], [64415918, 64416114], [64416618, 64416766], [64419046, 64419110]] [[64394181, 64395812], [64401626, 64401933], [64404470, 64404654], [64408112, 64408257], [64408338, 64408495], [64410239, 64410356], [64412397, 64412529], [64413425, 64413561], [64415918, 64416114], [64416618, 64416766], [64419046, 64419110]]
ENST00000481385 [[64345727, 64346055], [64389900, 64390062], [64394029, 64395812], [64401626, 64401933], [64404470, 64404654], [64408112, 64408135]] [[64389920, 64390062], [64394029, 64395812], [64401626, 64401933], [64404470, 64404654], [64408112, 64408135]]
ENST00000515594 [[64345729, 64346055], [64389900, 64390062], [64401626, 64401933], [64404470, 64404654], [64408112, 64408257], [64408338, 64408495], [64410239, 64410356], [64412397, 64412529], [64413425, 64413561], [64415918, 64416114], [64416618, 64416766], [64419046, 64419136], [64421062, 64421258], [64421481, 64422259]] [[64401630, 64401933], [64404470, 64404654], [64408112, 64408257], [64408338, 64408495], [64410239, 64410356], [64412397, 64412529], [64413425, 64413561], [64415918, 64416114], [64416618, 64416766], [64419046, 64419136], [64421062, 64421258], [64421481, 64422259]]
ENST00000494284 [[64345740, 64346055], [64356523, 64356700], [64389900, 64390062], [64394029, 64395812], [64401626, 64401933], [64404470, 64404580]] [[64356597, 64356700], [64389900, 64390062], [64394029, 64395812], [64401626, 64401933], [64404470, 64404580]]
ENST00000262043 [[64345740, 64346055], [64356431, 64356700], [64389900, 64390062], [64394029, 64395812], [64401626, 64401933], [64404470, 64404654], [64408112, 64408257], [64408338, 64408495], [64410239, 64410356], [64412397, 64412529], [64413425, 64413561], [64415918, 64416114], [64416618, 64416766], [64419046, 64419136], [64421062, 64421258], [64421481, 64425377]] [[64356456, 64356700], [64389900, 64390062], [64394029, 64395812], [64401626, 64401933], [64404470, 64404654], [64408112, 64408257], [64408338, 64408495], [64410239, 64410356], [64412397, 64412529], [64413425, 64413561], [64415918, 64416114], [64416618, 64416766], [64419046, 64419136], [64421062, 64421258], [64421481, 64423604]]
ENST00000509876 [[64346015, 64346055], [64356431, 64356700], [64388728, 64388921], [64389900, 64390062], [64394029, 64395812], [64401626, 64401933], [64404470, 64404654], [64408112, 64408257], [64408338, 64408495], [64410239, 64410356], [64412397, 64412529], [64413425, 64413561], [64415918, 64416114], [64416618, 64416766], [64419046, 64419136], [64421062, 64421258], [64421481, 64424350]] [[64356456, 64356700], [64388728, 64388733]]
ENST00000509330 [[64346385, 64346727], [64356431, 64356700], [64389900, 64390062], [64394029, 64396225]] [[64356456, 64356700], [64389900, 64390062], [64394029, 64395834]]
ENST00000505138 [[64416689, 64416766], [64419046, 64419136], [64421062, 64421258], [64487958, 64488136], [64489030, 64489101]] [[64416689, 64416766], [64419046, 64419136], [64421062, 64421258], [64487958, 64488104]]
ENST00000393387 [[64356430, 64356700], [64389900, 64390062], [64394029, 64395812], [64401626, 64401933], [64404470, 64404654], [64408112, 64408257], [64408338, 64408495], [64410239, 64410356], [64412397, 64412529], [64413425, 64413561], [64415918, 64416114], [64416618, 64416766], [64419046, 64419136], [64421062, 64421258], [64421481, 64424405]] [[64356456, 64356700], [64389900, 64390062], [64394029, 64395812], [64401626, 64401933], [64404470, 64404654], [64408112, 64408257], [64408338, 64408495], [64410239, 64410356], [64412397, 64412529], [64413425, 64413561], [64415918, 64416114], [64416618, 64416766], [64419046, 64419136], [64421062, 64421258], [64421481, 64423604]]
ENST00000514822 [[64389585, 64389792], [64389900, 64390062], [64394029, 64394146]] [[64389758, 64389792], [64389900, 64390062], [64394029, 64394146]]
ENST00000503248 [[64412182, 64412317], [64412397, 64412529], [64413425, 64413561], [64415918, 64416044]] None
ENST00000420043 [[64487497, 64488136], [64489030, 64489229]] None
NM_001290259 [[64345706, 64346055], [64356431, 64356700], [64388728, 64388921], [64389900, 64390062], [64394029, 64395812], [64401626, 64401933], [64404470, 64404654], [64408112, 64408257], [64408338, 64408495], [64410239, 64410356], [64412397, 64412529], [64413425, 64413561], [64415918, 64416114], [64416618, 64416766], [64419046, 64419136], [64421062, 64421258], [64421481, 64425418]] [[64389920, 64390062], [64394029, 64395812], [64401626, 64401933], [64404470, 64404654], [64408112, 64408257], [64408338, 64408495], [64410239, 64410356], [64412397, 64412529], [64413425, 64413561], [64415918, 64416114], [64416618, 64416766], [64419046, 64419136], [64421062, 64421258], [64421481, 64423604]]
NM_001290260 [[64346385, 64346727], [64356431, 64356700], [64389900, 64390062], [64394029, 64396225]] [[64356456, 64356700], [64389900, 64390062], [64394029, 64395834]]
NM_015153 [[64356430, 64356700], [64389900, 64390062], [64394029, 64395812], [64401626, 64401933], [64404470, 64404654], [64408112, 64408257], [64408338, 64408495], [64410239, 64410356], [64412397, 64412529], [64413425, 64413561], [64415918, 64416114], [64416618, 64416766], [64419046, 64419136], [64421062, 64421258], [64421481, 64425418]] [[64356456, 64356700], [64389900, 64390062], [64394029, 64395812], [64401626, 64401933], [64404470, 64404654], [64408112, 64408257], [64408338, 64408495], [64410239, 64410356], [64412397, 64412529], [64413425, 64413561], [64415918, 64416114], [64416618, 64416766], [64419046, 64419136], [64421062, 64421258], [64421481, 64423604]]
Promoter
Chrom Start End Description
chr6 64345675 64345686 CAGE_peak_3_at_PHF3_5end
chr6 64345698 64345750 CAGE_peak_2_at_PHF3_5end
chr6 64345755 64345766 CAGE_peak_4_at_PHF3_5end
chr6 64345869 64345878 CAGE_peak_7_at_PHF3_5end
chr6 64345971 64346036 CAGE_peak_1_at_PHF3_5end
chr6 64346457 64346475 CAGE_peak_14_at_PHF3_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I063536 63536989 63538723 1.2 [{'connected_gene': 'LGSN', 'score': 17.63}, {'connected_gene': 'PHF3', 'score': 12.28}, {'connected_gene': 'GC06P063532', 'score': 0.44}, {'connected_gene': 'RPL7AP34', 'score': 0.39}, {'connected_gene': 'PTP4A1', 'score': 0.37}]
chr6 GH06I063451 63451846 63453566 0.92 [{'connected_gene': 'LGSN', 'score': 27.47}, {'connected_gene': 'PHF3', 'score': 11.15}, {'connected_gene': 'GC06M063427', 'score': 0.39}, {'connected_gene': 'GC06M063429', 'score': 0.39}, {'connected_gene': 'GC06M063428', 'score': 0.39}, {'connected_gene': 'GC06M063463', 'score': 0.39}, {'connected_gene': 'GC06M063421', 'score': 0.39}]
chr6 GH06I063576 63576896 63577045 0.51 [{'connected_gene': 'PHF3', 'score': 11.07}, {'connected_gene': 'ENSG00000266680', 'score': 0.77}, {'connected_gene': 'GC06M063587', 'score': 0.39}, {'connected_gene': 'PTP4A1', 'score': 0.22}]
chr6 GH06I063663 63663058 63664400 0.89 [{'connected_gene': 'PHF3', 'score': 12.1}, {'connected_gene': 'GC06M063647', 'score': 0.39}, {'connected_gene': 'GC06P063737', 'score': 0.19}]
chr6 GH06I063676 63676797 63677902 1 [{'connected_gene': 'PHF3', 'score': 14.66}, {'connected_gene': 'GC06M063647', 'score': 0.31}, {'connected_gene': 'GC06P063737', 'score': 0.22}]
chr6 GH06I063600 63600201 63600400 0.2 [{'connected_gene': 'PHF3', 'score': 12.16}, {'connected_gene': 'ENSG00000236345', 'score': 10.91}, {'connected_gene': 'GC06M063595', 'score': 0.77}, {'connected_gene': 'GC06M063602', 'score': 0.77}]
chr6 GH06I063597 63597801 63599325 1.19 [{'connected_gene': 'PHF3', 'score': 24.37}, {'connected_gene': 'ENSG00000236345', 'score': 10.91}, {'connected_gene': 'GC06M063595', 'score': 0.77}, {'connected_gene': 'GC06M063602', 'score': 0.77}]
chr6 GH06I063665 63665601 63665800 0.2 [{'connected_gene': 'PHF3', 'score': 11.9}, {'connected_gene': 'GC06M063647', 'score': 0.39}, {'connected_gene': 'GC06P063737', 'score': 0.19}]
chr6 GH06I063685 63685390 63686000 0.63 [{'connected_gene': 'PHF3', 'score': 11.64}, {'connected_gene': 'GC06M063647', 'score': 0.29}, {'connected_gene': 'GC06P063737', 'score': 0.23}]
chr6 GH06I063646 63646480 63646539 0.5 [{'connected_gene': 'PHF3', 'score': 550.39}, {'connected_gene': 'GC06M063647', 'score': 0.77}]
chr6 GH06I063640 63640156 63640385 0.52 [{'connected_gene': 'PHF3', 'score': 0.77}, {'connected_gene': 'GC06M063647', 'score': 0.39}]
chr6 GH06I063634 63634631 63638432 2.1 [{'connected_gene': 'PHF3', 'score': 565.02}, {'connected_gene': 'GC06M063647', 'score': 0.39}]
chr6 GH06I063569 63569469 63576810 2.32 [{'connected_gene': 'ENSG00000266680', 'score': 550.77}, {'connected_gene': 'PTP4A1', 'score': 550.23}, {'connected_gene': 'PHF3', 'score': 11.34}, {'connected_gene': 'LGSN', 'score': 10.6}, {'connected_gene': 'ENSG00000236345', 'score': 10.34}, {'connected_gene': 'GC06M063587', 'score': 0.37}]
chr6 GH06I063589 63589484 63590667 0.89 [{'connected_gene': 'GC06M063587', 'score': 550.77}, {'connected_gene': 'PHF3', 'score': 11.02}, {'connected_gene': 'ENSG00000236345', 'score': 10.7}, {'connected_gene': 'GC06M063595', 'score': 0.44}]
chr6 GH06I063643 63643780 63644921 0.54 [{'connected_gene': 'GC06M063647', 'score': 0.44}, {'connected_gene': 'PHF3', 'score': 0.44}]