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
ENST00000553458 [[74523552, 74527449], [74531524, 74531623], [74531883, 74532063], [74533407, 74533589], [74534082, 74534272], [74535562, 74535684], [74537897, 74538200], [74538598, 74538677], [74538905, 74539067], [74539239, 74539314], [74541657, 74541720], [74551049, 74551196]] [[74527344, 74527449], [74531524, 74531623], [74531883, 74532063], [74533407, 74533589], [74534082, 74534272], [74535562, 74535684], [74537897, 74538200], [74538598, 74538677], [74538905, 74539067], [74539239, 74539314], [74541657, 74541720], [74551049, 74551097]]
ENST00000554501 [[74526949, 74527449], [74531524, 74531623], [74531883, 74532063], [74533407, 74533589], [74534082, 74534272], [74535562, 74535684], [74537897, 74538363], [74538598, 74538677], [74538905, 74539067], [74539239, 74539314], [74541657, 74541720], [74551049, 74551152]] None
ENST00000350259 [[74527097, 74527449], [74531524, 74531623], [74531883, 74532063], [74533407, 74533589], [74534082, 74534272], [74535562, 74535684], [74537897, 74538200], [74538598, 74538677], [74538944, 74539067], [74539239, 74539314], [74541657, 74541720], [74551049, 74551150]] [[74527344, 74527449], [74531524, 74531623], [74531883, 74532063], [74533407, 74533589], [74534082, 74534272], [74535562, 74535684], [74537897, 74538200], [74538598, 74538677], [74538944, 74539067], [74539239, 74539314], [74541657, 74541720], [74551049, 74551097]]
ENST00000555126 [[74527117, 74527449], [74531524, 74531623], [74531883, 74532063], [74533407, 74533589], [74534082, 74534272], [74535562, 74535961]] [[74527344, 74527449], [74531524, 74531623], [74531883, 74532063], [74533407, 74533589], [74534082, 74534272], [74535562, 74535565]]
ENST00000554231 [[74537402, 74538200], [74538598, 74538677], [74538905, 74539067], [74539239, 74539314], [74541657, 74541720], [74551049, 74551195]] None
ENST00000553814 [[74538070, 74538272], [74538598, 74538677], [74538905, 74539067], [74541657, 74541720], [74551049, 74551123]] None
ENST00000556852 [[74538580, 74539067], [74539239, 74539314], [74541657, 74541720], [74551049, 74551150]] None
NM_001278594 [[74524364, 74527449], [74531524, 74531623], [74531883, 74532063], [74533407, 74533589], [74534082, 74534272], [74535562, 74535684], [74537897, 74538363], [74538598, 74538677], [74538905, 74539067], [74539239, 74539314], [74541657, 74541720], [74551049, 74551196]] [[74527344, 74527449], [74531524, 74531623], [74531883, 74532063], [74533407, 74533589], [74534082, 74534272], [74535562, 74535684], [74537897, 74538165]]
NM_005589 [[74524364, 74527449], [74531524, 74531623], [74531883, 74532063], [74533407, 74533589], [74534082, 74534272], [74535562, 74535684], [74537897, 74538200], [74538598, 74538677], [74538905, 74539067], [74539239, 74539314], [74541657, 74541720], [74551049, 74551196]] [[74527344, 74527449], [74531524, 74531623], [74531883, 74532063], [74533407, 74533589], [74534082, 74534272], [74535562, 74535684], [74537897, 74538200], [74538598, 74538677], [74538905, 74539067], [74539239, 74539314], [74541657, 74541720], [74551049, 74551097]]
NM_001278593 [[74524364, 74527449], [74531524, 74531623], [74531883, 74532063], [74533407, 74533589], [74534082, 74534272], [74535562, 74535684], [74537897, 74538200], [74538598, 74538677], [74538944, 74539067], [74539239, 74539314], [74541657, 74541720], [74551049, 74551196]] [[74527344, 74527449], [74531524, 74531623], [74531883, 74532063], [74533407, 74533589], [74534082, 74534272], [74535562, 74535684], [74537897, 74538200], [74538598, 74538677], [74538944, 74539067], [74539239, 74539314], [74541657, 74541720], [74551049, 74551097]]
Promoter
Chrom Start End Description
chr14 74551096 74551171 CAGE_peak_1_at_ALDH6A1_5end
chr14 74551172 74551183 CAGE_peak_2_at_ALDH6A1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr14 GH14I074080 74080953 74081758 0.49 [{'connected_gene': 'LIN52', 'score': 15.26}, {'connected_gene': 'ALDH6A1', 'score': 0.77}, {'connected_gene': 'GC14P074048', 'score': 0.29}, {'connected_gene': 'BBOF1', 'score': 0.21}]
chr14 GH14I074083 74083138 74086684 2.06 [{'connected_gene': 'LIN52', 'score': 577.21}, {'connected_gene': 'ALDH6A1', 'score': 550.77}, {'connected_gene': 'PIR52311', 'score': 550.77}, {'connected_gene': 'ZNF410', 'score': 43.07}, {'connected_gene': 'LOC100506476', 'score': 37.19}, {'connected_gene': 'ELMSAN1', 'score': 33.28}, {'connected_gene': 'MLH3', 'score': 25.35}, {'connected_gene': 'YLPM1', 'score': 20.37}, {'connected_gene': 'FCF1', 'score': 20.27}, {'connected_gene': 'PTGR2', 'score': 20.14}, {'connected_gene': 'ENSG00000258559', 'score': 17.1}, {'connected_gene': 'NUMB', 'score': 14.94}, {'connected_gene': 'ABCD4', 'score': 14.22}, {'connected_gene': 'ENSG00000258891', 'score': 12.42}, {'connected_gene': 'EIF2B2', 'score': 9.91}]
chr14 GH14I074061 74061488 74063187 0.59 [{'connected_gene': 'LIN52', 'score': 27.58}, {'connected_gene': 'ALDH6A1', 'score': 12.53}, {'connected_gene': 'LOC100506476', 'score': 10.89}, {'connected_gene': 'ENTPD5', 'score': 7.52}, {'connected_gene': 'PTGR2', 'score': 5.46}, {'connected_gene': 'GC14P074048', 'score': 0.39}, {'connected_gene': 'BBOF1', 'score': 0.26}]
chr14 GH14I074251 74251201 74252027 1.04 [{'connected_gene': 'ELMSAN1', 'score': 18.03}, {'connected_gene': 'ZNF410', 'score': 16.58}, {'connected_gene': 'NUMB', 'score': 14.8}, {'connected_gene': 'NEK9', 'score': 11.55}, {'connected_gene': 'ABCD4', 'score': 10.89}, {'connected_gene': 'ENSG00000258559', 'score': 10.65}, {'connected_gene': 'FCF1', 'score': 10.51}, {'connected_gene': 'SYNDIG1L', 'score': 9.56}, {'connected_gene': 'VSX2', 'score': 6.67}, {'connected_gene': 'ALDH6A1', 'score': 5.18}, {'connected_gene': 'GC14M074212', 'score': 0.07}]
chr14 GH14I074256 74256977 74259012 0.9 [{'connected_gene': 'VSX2', 'score': 7.13}, {'connected_gene': 'ALDH6A1', 'score': 6.62}, {'connected_gene': 'ENSG00000258559', 'score': 6.02}, {'connected_gene': 'GC14M074212', 'score': 0.07}]
chr14 GH14I074380 74380318 74380447 0.43 [{'connected_gene': 'RPS2P2', 'score': 550.77}, {'connected_gene': 'SYNDIG1L', 'score': 11.47}, {'connected_gene': 'ABCD4', 'score': 11.4}, {'connected_gene': 'LIN52', 'score': 10.24}, {'connected_gene': 'ALDH6A1', 'score': 10.24}, {'connected_gene': 'GC14M074406', 'score': 0.31}, {'connected_gene': 'GC14M074212', 'score': 0.12}]
chr14 GH14I074027 74027930 74029273 0.57 [{'connected_gene': 'FAM161B', 'score': 16.82}, {'connected_gene': 'LIN52', 'score': 11.14}, {'connected_gene': 'ALDH6A1', 'score': 11.14}, {'connected_gene': 'COQ6', 'score': 11.04}, {'connected_gene': 'LINC02274', 'score': 10.04}, {'connected_gene': 'ENTPD5', 'score': 6.3}, {'connected_gene': 'BBOF1', 'score': 0.44}, {'connected_gene': 'GC14P074048', 'score': 0.34}]
chr14 GH14I073994 73994254 74000427 1.08 [{'connected_gene': 'PTGR2', 'score': 28.31}, {'connected_gene': 'LIN52', 'score': 16.64}, {'connected_gene': 'LOC100506476', 'score': 15.3}, {'connected_gene': 'COQ6', 'score': 11.58}, {'connected_gene': 'FAM161B', 'score': 11.58}, {'connected_gene': 'ALDH6A1', 'score': 10.13}, {'connected_gene': 'ENSG00000223300', 'score': 9.78}, {'connected_gene': 'ENTPD5', 'score': 6.15}, {'connected_gene': 'BBOF1', 'score': 5.44}, {'connected_gene': 'RPL41P4', 'score': 0.44}, {'connected_gene': 'GC14M073963', 'score': 0.29}]
chr14 GH14I073908 73908791 73910524 0.31 [{'connected_gene': 'PTGR2', 'score': 41.88}, {'connected_gene': 'COQ6', 'score': 11.63}, {'connected_gene': 'FAM161B', 'score': 11.63}, {'connected_gene': 'ZNF410', 'score': 11.61}, {'connected_gene': 'ENSG00000223300', 'score': 10.75}, {'connected_gene': 'LIN52', 'score': 9.55}, {'connected_gene': 'ALDH6A1', 'score': 9.55}, {'connected_gene': 'ENSG00000199472', 'score': 0.77}, {'connected_gene': 'ENSG00000258891', 'score': 0.31}, {'connected_gene': 'ENSG00000258653', 'score': 0.22}]
chr14 GH14I073928 73928747 73930339 0.2 [{'connected_gene': 'PTGR2', 'score': 29.03}, {'connected_gene': 'FAM161B', 'score': 20.11}, {'connected_gene': 'LOC100506476', 'score': 18.92}, {'connected_gene': 'COQ6', 'score': 12.45}, {'connected_gene': 'ALDH6A1', 'score': 10.65}, {'connected_gene': 'LIN52', 'score': 10.65}, {'connected_gene': 'ENSG00000223300', 'score': 10.53}, {'connected_gene': 'ENTPD5', 'score': 6.1}, {'connected_gene': 'ENSG00000258891', 'score': 0.44}, {'connected_gene': 'ENSG00000199472', 'score': 0.34}, {'connected_gene': 'GC14M073922', 'score': 0.31}, {'connected_gene': 'ZNF410', 'score': 0.26}, {'connected_gene': 'ENSG00000258653', 'score': 0.18}]
chr14 GH14I073944 73944850 73945760 0.49 [{'connected_gene': 'PTGR2', 'score': 29.81}, {'connected_gene': 'LOC100506476', 'score': 13.84}, {'connected_gene': 'LIN52', 'score': 9.52}, {'connected_gene': 'ALDH6A1', 'score': 9.52}, {'connected_gene': 'COQ6', 'score': 0.77}, {'connected_gene': 'ENSG00000258891', 'score': 0.44}, {'connected_gene': 'FAM161B', 'score': 0.44}, {'connected_gene': 'GC14M073922', 'score': 0.39}]
chr14 GH14I073942 73942330 73944202 0.86 [{'connected_gene': 'PTGR2', 'score': 29.4}, {'connected_gene': 'LOC100506476', 'score': 19.5}, {'connected_gene': 'LIN52', 'score': 9.51}, {'connected_gene': 'ALDH6A1', 'score': 9.51}, {'connected_gene': 'LINC02274', 'score': 8.88}, {'connected_gene': 'ENTPD5', 'score': 6.17}, {'connected_gene': 'COQ6', 'score': 0.44}, {'connected_gene': 'ENSG00000258891', 'score': 0.44}, {'connected_gene': 'FAM161B', 'score': 0.44}, {'connected_gene': 'GC14M073922', 'score': 0.39}]
chr14 GH14I073922 73922402 73924086 0.2 [{'connected_gene': 'PTGR2', 'score': 40.66}, {'connected_gene': 'LOC100506476', 'score': 19.41}, {'connected_gene': 'COQ6', 'score': 11.79}, {'connected_gene': 'FAM161B', 'score': 11.79}, {'connected_gene': 'ZNF410', 'score': 11.07}, {'connected_gene': 'ENSG00000223300', 'score': 10.49}, {'connected_gene': 'LIN52', 'score': 10.11}, {'connected_gene': 'ALDH6A1', 'score': 10.11}, {'connected_gene': 'ENSG00000258891', 'score': 0.39}, {'connected_gene': 'ENSG00000199472', 'score': 0.37}, {'connected_gene': 'GC14M073922', 'score': 0.29}, {'connected_gene': 'ENSG00000258653', 'score': 0.19}]
chr14 GH14I074217 74217564 74218428 1 [{'connected_gene': 'LOC105370564', 'score': 550.77}, {'connected_gene': 'LIN52', 'score': 10.69}, {'connected_gene': 'ALDH6A1', 'score': 10.69}, {'connected_gene': 'SYNDIG1L', 'score': 9.3}, {'connected_gene': 'PTGR2', 'score': 6.12}, {'connected_gene': 'FAM161B', 'score': 5.8}, {'connected_gene': 'ACOT2', 'score': 5.15}, {'connected_gene': 'VSX2', 'score': 0.34}, {'connected_gene': 'GC14M074212', 'score': 0.06}]
chr14 GH14I074141 74141520 74142527 0.68 [{'connected_gene': 'LOC105370563', 'score': 550.77}, {'connected_gene': 'LIN52', 'score': 18.85}, {'connected_gene': 'ALDH6A1', 'score': 10.66}, {'connected_gene': 'RN7SL530P', 'score': 0.29}]
chr14 GH14I074140 74140170 74140973 1.4 [{'connected_gene': 'LOC105370563', 'score': 550.77}, {'connected_gene': 'MLH3', 'score': 34.95}, {'connected_gene': 'YLPM1', 'score': 32.7}, {'connected_gene': 'ENSG00000258559', 'score': 25.51}, {'connected_gene': 'ABCD4', 'score': 21.18}, {'connected_gene': 'LIN52', 'score': 18.61}, {'connected_gene': 'ENSG00000259138', 'score': 11.82}, {'connected_gene': 'ELMSAN1', 'score': 11.43}, {'connected_gene': 'NEK9', 'score': 11.34}, {'connected_gene': 'ENSG00000258443', 'score': 11.02}, {'connected_gene': 'ALDH6A1', 'score': 10.66}, {'connected_gene': 'BBOF1', 'score': 10.3}, {'connected_gene': 'ENSG00000258646', 'score': 10.17}, {'connected_gene': 'ENSG00000258891', 'score': 10.08}, {'connected_gene': 'GC14P074134', 'score': 0.44}]
chr14 GH14I073930 73930758 73932690 0.2 [{'connected_gene': 'LOC100506476', 'score': 19.54}, {'connected_gene': 'LIN52', 'score': 16.75}, {'connected_gene': 'PTGR2', 'score': 16.7}, {'connected_gene': 'ALDH6A1', 'score': 10.65}, {'connected_gene': 'ENSG00000223300', 'score': 10.53}, {'connected_gene': 'FAM161B', 'score': 6.36}, {'connected_gene': 'ENSG00000258891', 'score': 0.44}, {'connected_gene': 'GC14M073922', 'score': 0.34}, {'connected_gene': 'ENSG00000199472', 'score': 0.31}, {'connected_gene': 'ZNF410', 'score': 0.25}, {'connected_gene': 'ENSG00000258653', 'score': 0.18}]
chr14 GH14I074133 74133589 74135448 1.42 [{'connected_gene': 'GC14P074134', 'score': 550.77}, {'connected_gene': 'LIN52', 'score': 18.95}, {'connected_gene': 'LOC100506476', 'score': 11.1}, {'connected_gene': 'ALDH6A1', 'score': 10.86}, {'connected_gene': 'ENTPD5', 'score': 8.18}, {'connected_gene': 'LOC105370563', 'score': 0.44}]
chr14 GH14I074065 74065838 74065987 0.43 [{'connected_gene': 'GC14P074048', 'score': 0.37}, {'connected_gene': 'ALDH6A1', 'score': 0.37}, {'connected_gene': 'BBOF1', 'score': 0.25}]

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