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
ENST00000511469 [[56461395, 56461578], [56465308, 56465348], [56466688, 56466742], [56471441, 56471516], [56473464, 56473515], [56473603, 56473633], [56475286, 56475346], [56496568, 56496627], [56502247, 56502451]] [[56465312, 56465348], [56466688, 56466742], [56471441, 56471516], [56473464, 56473515], [56473603, 56473633], [56475286, 56475346], [56496568, 56496627], [56502247, 56502359]]
ENST00000264218 [[56461397, 56461578], [56465308, 56465348], [56466688, 56466742], [56471441, 56471516], [56473464, 56473515], [56473603, 56473633], [56475286, 56475346], [56482504, 56482552], [56496568, 56496627], [56502247, 56502465]] [[56465312, 56465348], [56466688, 56466742], [56471441, 56471516], [56473464, 56473515], [56473603, 56473633], [56475286, 56475346], [56482504, 56482552], [56496568, 56496627], [56502247, 56502359]]
ENST00000505262 [[56461400, 56461578], [56465308, 56465348], [56466688, 56466742], [56471441, 56471516], [56475286, 56475346], [56482504, 56482552], [56496568, 56496627], [56502247, 56502426]] [[56465312, 56465348], [56466688, 56466742], [56471441, 56471516], [56475286, 56475346], [56482504, 56482552], [56496568, 56496627], [56502247, 56502359]]
ENST00000507338 [[56461450, 56461578], [56465308, 56465348], [56466688, 56466742], [56473464, 56473515], [56473603, 56473633], [56475286, 56475346], [56482504, 56482552], [56496568, 56496627], [56502247, 56502435]] [[56465312, 56465348], [56466688, 56466742], [56473464, 56473515], [56473603, 56473633], [56475286, 56475346], [56482504, 56482552], [56496568, 56496627], [56502247, 56502359]]
ENST00000515325 [[56461483, 56461578], [56465308, 56465348], [56466688, 56466742], [56471441, 56471516], [56473603, 56473633], [56475286, 56475346], [56482504, 56482552], [56496568, 56496627], [56502710, 56502865]] None
ENST00000509371 [[56465318, 56465348], [56466688, 56466742], [56473603, 56473633], [56475286, 56475346], [56482504, 56482552], [56496568, 56496629]] None
NM_006681 [[56461395, 56461578], [56465308, 56465348], [56466688, 56466742], [56471441, 56471516], [56473464, 56473515], [56473603, 56473633], [56475286, 56475346], [56482504, 56482552], [56496568, 56496627], [56502247, 56502465]] [[56465312, 56465348], [56466688, 56466742], [56471441, 56471516], [56473464, 56473515], [56473603, 56473633], [56475286, 56475346], [56482504, 56482552], [56496568, 56496627], [56502247, 56502359]]
NM_001292046 [[56461395, 56461578], [56465308, 56465348], [56466688, 56466742], [56473464, 56473515], [56473603, 56473633], [56475286, 56475346], [56482504, 56482552], [56496568, 56496627], [56502247, 56502465]] [[56465312, 56465348], [56466688, 56466742], [56473464, 56473515], [56473603, 56473633], [56475286, 56475346], [56482504, 56482552], [56496568, 56496627], [56502247, 56502359]]
NM_001292045 [[56461395, 56461578], [56465308, 56465348], [56466688, 56466742], [56471441, 56471516], [56473464, 56473515], [56473603, 56473633], [56475286, 56475346], [56496568, 56496627], [56502247, 56502465]] [[56465312, 56465348], [56466688, 56466742], [56471441, 56471516], [56473464, 56473515], [56473603, 56473633], [56475286, 56475346], [56496568, 56496627], [56502247, 56502359]]
NR_120489 [[56461395, 56461578], [56465308, 56465348], [56466688, 56466742], [56471441, 56471516], [56473603, 56473633], [56475286, 56475346], [56482504, 56482552], [56496568, 56496627], [56502710, 56502865]] None
Promoter
Chrom Start End Description
chr4 56502429 56502440 CAGE_peak_3_at_NMU_5end
chr4 56502455 56502471 CAGE_peak_1_at_NMU_5end
chr4 56502502 56502513 CAGE_peak_2_at_NMU_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I055447 55447201 55447400 0.2 [{'connected_gene': 'CLOCK', 'score': 10.74}, {'connected_gene': 'NMU', 'score': 9.98}, {'connected_gene': 'TMEM165', 'score': 9.24}, {'connected_gene': 'PIR52615', 'score': 0.37}, {'connected_gene': 'GC04M055433', 'score': 0.37}, {'connected_gene': 'ENSG00000238585', 'score': 0.23}, {'connected_gene': 'GC04M055502', 'score': 0.23}]
chr4 GH04I055543 55543989 55548764 2.06 [{'connected_gene': 'CLOCK', 'score': 559.76}, {'connected_gene': 'ENSG00000272969', 'score': 558.14}, {'connected_gene': 'RN7SKP30', 'score': 46.4}, {'connected_gene': 'TMEM165', 'score': 28.16}, {'connected_gene': 'CEP135', 'score': 14.64}, {'connected_gene': 'AASDH', 'score': 13.03}, {'connected_gene': 'SRP72', 'score': 12.42}, {'connected_gene': 'NMU', 'score': 10.55}, {'connected_gene': 'SRD5A3', 'score': 7.48}]
chr4 GH04I055553 55553001 55554200 0.69 [{'connected_gene': 'TMEM165', 'score': 28.16}, {'connected_gene': 'NMU', 'score': 10.07}, {'connected_gene': 'CLOCK', 'score': 9.41}, {'connected_gene': 'PDCL2', 'score': 0.28}]
chr4 GH04I055548 55548897 55551176 0.74 [{'connected_gene': 'TMEM165', 'score': 27.82}, {'connected_gene': 'NMU', 'score': 20.46}, {'connected_gene': 'CLOCK', 'score': 9.77}, {'connected_gene': 'ENSG00000272969', 'score': 8.08}, {'connected_gene': 'SRD5A3-AS1', 'score': 7.54}, {'connected_gene': 'PDCL2', 'score': 0.26}]
chr4 GH04I055434 55434594 55435954 0.57 [{'connected_gene': 'TMEM165', 'score': 28.83}, {'connected_gene': 'NMU', 'score': 9.98}, {'connected_gene': 'CLOCK', 'score': 9.25}, {'connected_gene': 'PIR52615', 'score': 0.77}, {'connected_gene': 'GC04M055433', 'score': 0.77}, {'connected_gene': 'ENSG00000238585', 'score': 0.2}, {'connected_gene': 'GC04M055502', 'score': 0.2}]
chr4 GH04I055381 55381107 55382343 0.49 [{'connected_gene': 'TMEM165', 'score': 17.0}, {'connected_gene': 'NMU', 'score': 9.08}, {'connected_gene': 'LOC105377659', 'score': 0.77}, {'connected_gene': 'ENSG00000273257', 'score': 0.44}, {'connected_gene': 'SRD5A3-AS1', 'score': 0.39}]
chr4 GH04I055394 55394962 55399618 2.27 [{'connected_gene': 'TMEM165', 'score': 567.86}, {'connected_gene': 'GC04P055398', 'score': 550.77}, {'connected_gene': 'SRD5A3-AS1', 'score': 550.77}, {'connected_gene': 'CEP135', 'score': 20.49}, {'connected_gene': 'RN7SKP30', 'score': 16.57}, {'connected_gene': 'CLOCK', 'score': 15.14}, {'connected_gene': 'AASDH', 'score': 12.28}, {'connected_gene': 'SRD5A3', 'score': 11.84}, {'connected_gene': 'NMU', 'score': 9.93}, {'connected_gene': 'ENSG00000272969', 'score': 7.53}]
chr4 GH04I055357 55357974 55360002 1.17 [{'connected_gene': 'TMEM165', 'score': 16.01}, {'connected_gene': 'SRD5A3-AS1', 'score': 12.96}, {'connected_gene': 'NMU', 'score': 7.7}, {'connected_gene': 'CLOCK', 'score': 4.42}, {'connected_gene': 'PIR32131', 'score': 0.44}, {'connected_gene': 'SRD5A3', 'score': 0.39}, {'connected_gene': 'LOC105377659', 'score': 0.37}]
chr4 GH04I055592 55592137 55592196 0.79 [{'connected_gene': 'PDCL2', 'score': 550.77}, {'connected_gene': 'NMU', 'score': 17.07}, {'connected_gene': 'CLOCK', 'score': 0.25}]
chr4 GH04I055635 55635801 55637000 1.57 [{'connected_gene': 'NMU', 'score': 550.77}, {'connected_gene': 'SRP72', 'score': 14.75}, {'connected_gene': 'CEP135', 'score': 12.53}, {'connected_gene': 'SRD5A3', 'score': 9.04}, {'connected_gene': 'PDCL2', 'score': 0.26}]
chr4 GH04I055611 55611848 55612768 0.46 [{'connected_gene': 'NMU', 'score': 28.72}, {'connected_gene': 'TMEM165', 'score': 18.67}, {'connected_gene': 'SRD5A3', 'score': 5.41}, {'connected_gene': 'PDCL2', 'score': 0.34}]
chr4 GH04I055608 55608386 55611615 0.31 [{'connected_gene': 'NMU', 'score': 28.71}, {'connected_gene': 'TMEM165', 'score': 25.17}, {'connected_gene': 'KDR', 'score': 9.42}, {'connected_gene': 'SRD5A3', 'score': 5.69}, {'connected_gene': 'PDCL2', 'score': 0.37}]
chr4 GH04I055421 55421419 55422664 0.46 [{'connected_gene': 'NMU', 'score': 9.97}, {'connected_gene': 'TMEM165', 'score': 9.43}, {'connected_gene': 'RN7SKP30', 'score': 8.47}, {'connected_gene': 'PIR45008', 'score': 0.44}, {'connected_gene': 'ENSG00000239040', 'score': 0.44}]
chr4 GH04I055637 55637054 55638412 0.8 [{'connected_gene': 'NMU', 'score': 570.47}, {'connected_gene': 'TMEM165', 'score': 5.62}, {'connected_gene': 'LOC105377660', 'score': 0.37}]
chr4 GH04I055733 55733454 55734869 0.76 [{'connected_gene': 'NMU', 'score': 10.18}, {'connected_gene': 'RNU6-276P', 'score': 0.21}, {'connected_gene': 'LOC105377660', 'score': 0.18}]
chr4 GH04I055754 55754365 55756095 0.49 [{'connected_gene': 'NMU', 'score': 9.97}, {'connected_gene': 'RNU6-276P', 'score': 0.26}, {'connected_gene': 'LOC105377660', 'score': 0.15}]
chr4 GH04I055420 55420174 55420961 0.2 [{'connected_gene': 'NMU', 'score': 9.18}, {'connected_gene': 'ENSG00000272969', 'score': 5.04}, {'connected_gene': 'SRD5A3-AS1', 'score': 4.7}, {'connected_gene': 'PIR45008', 'score': 0.44}, {'connected_gene': 'ENSG00000239040', 'score': 0.44}, {'connected_gene': 'TMEM165', 'score': 0.34}]
chr4 GH04I054957 54957757 54960849 0.31 [{'connected_gene': 'NMU', 'score': 9.22}, {'connected_gene': 'GC04M054977', 'score': 0.37}, {'connected_gene': 'ENSG00000248317', 'score': 0.37}, {'connected_gene': 'GC04P054944', 'score': 0.37}]
chr4 GH04I055378 55378649 55379823 0.66 [{'connected_gene': 'LOC105377659', 'score': 550.77}, {'connected_gene': 'TMEM165', 'score': 10.33}, {'connected_gene': 'NMU', 'score': 9.08}, {'connected_gene': 'CLOCK', 'score': 8.15}, {'connected_gene': 'ENSG00000273257', 'score': 0.44}, {'connected_gene': 'SRD5A3-AS1', 'score': 0.37}]
chr4 GH04I055386 55386158 55388322 1.16 [{'connected_gene': 'ENSG00000273257', 'score': 550.77}, {'connected_gene': 'TMEM165', 'score': 33.63}, {'connected_gene': 'ENSG00000272969', 'score': 9.31}, {'connected_gene': 'NMU', 'score': 9.08}, {'connected_gene': 'SRD5A3-AS1', 'score': 4.89}, {'connected_gene': 'LOC105377659', 'score': 0.44}]
chr4 GH04I055502 55502859 55503958 0.59 [{'connected_gene': 'ENSG00000238585', 'score': 550.77}, {'connected_gene': 'GC04M055502', 'score': 550.77}, {'connected_gene': 'NMU', 'score': 10.01}, {'connected_gene': 'CLOCK', 'score': 9.24}, {'connected_gene': 'RN7SKP30', 'score': 0.28}]