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
ENST00000505049 [[159122755, 159122850], [159124794, 159124860], [159132604, 159132726], [159133759, 159133928], [159136342, 159136465]] [[159133819, 159133928], [159136342, 159136465]]
ENST00000505189 [[159122755, 159122850], [159124794, 159124860], [159132604, 159132726], [159133212, 159133372], [159133759, 159133928], [159136342, 159136465], [159138472, 159138501]] [[159133819, 159133928], [159136342, 159136465], [159138472, 159138501]]
ENST00000511038 [[159122766, 159122850], [159124771, 159124860], [159132604, 159132726], [159133212, 159133372], [159133759, 159133850]] [[159133819, 159133850]]
ENST00000508243 [[159131345, 159131738], [159132610, 159132726], [159133759, 159133928], [159136342, 159136465], [159138472, 159138572], [159140461, 159140542], [159154052, 159154134], [159156589, 159156595]] [[159133819, 159133928], [159136342, 159136465], [159138472, 159138572], [159140461, 159140542], [159154052, 159154134], [159156589, 159156595]]
ENST00000296529 [[159131400, 159131738], [159132604, 159132726], [159133759, 159133928], [159136342, 159136465], [159138472, 159138572], [159140461, 159140542], [159154052, 159154134], [159156589, 159156657], [159158676, 159158795], [159161450, 159161570], [159162660, 159162758], [159165447, 159165501], [159174595, 159176563]] [[159133819, 159133928], [159136342, 159136465], [159138472, 159138572], [159140461, 159140542], [159154052, 159154134], [159156589, 159156657], [159158676, 159158795], [159161450, 159161570], [159162660, 159162758], [159165447, 159165501], [159174595, 159174679]]
ENST00000512481 [[159131610, 159131738], [159132604, 159132726], [159133212, 159133372], [159133759, 159133928], [159136342, 159136465], [159138472, 159138501]] [[159133819, 159133928], [159136342, 159136465], [159138472, 159138501]]
ENST00000504569 [[159131635, 159131738], [159133759, 159133928], [159136342, 159136465], [159138472, 159138572], [159140461, 159140542]] [[159133819, 159133928], [159136342, 159136465], [159138472, 159138572], [159140461, 159140542]]
ENST00000509278 [[159131636, 159131738], [159132604, 159132726], [159133759, 159135168]] [[159133819, 159134041]]
ENST00000514558 [[159131636, 159133372], [159133759, 159133928], [159136342, 159136465], [159138472, 159138572], [159140461, 159140542], [159154052, 159155542]] [[159133819, 159133928], [159136342, 159136465], [159138472, 159138572], [159140461, 159140542], [159154052, 159154149]]
ENST00000513744 [[159131637, 159131738], [159132604, 159133058]] None
ENST00000514346 [[159131637, 159131738], [159132684, 159132726], [159133212, 159133372]] None
ENST00000503200 [[159131637, 159131738], [159132684, 159132726], [159133759, 159133928], [159136342, 159136465], [159138472, 159138572]] [[159133819, 159133928], [159136342, 159136465], [159138472, 159138572]]
ENST00000511532 [[159131706, 159131738], [159132604, 159132726], [159133759, 159133928], [159136342, 159136465], [159138472, 159138572], [159140461, 159140542], [159154052, 159154134], [159158676, 159158795], [159161450, 159161570], [159162660, 159162758], [159165447, 159165501], [159174595, 159176356]] [[159133819, 159133928], [159136342, 159136465], [159138472, 159138572], [159140461, 159140542], [159154052, 159154134], [159158676, 159158766]]
ENST00000502698 [[159132376, 159132726], [159133759, 159133928], [159136342, 159136465]] [[159133819, 159133928], [159136342, 159136465]]
ENST00000514971 [[159132417, 159132487], [159132604, 159132726], [159133759, 159133928], [159136342, 159136465], [159138472, 159138513]] [[159133819, 159133928], [159136342, 159136465], [159138472, 159138513]]
ENST00000503404 [[159154187, 159156824], [159158676, 159158795], [159161450, 159161570], [159162660, 159162758], [159165447, 159165501], [159174595, 159176439]] None
ENST00000512272 [[159158488, 159158795], [159161450, 159161570], [159162660, 159162758], [159165447, 159165480]] None
NM_018342 [[159131400, 159131738], [159132604, 159132726], [159133759, 159133928], [159136342, 159136465], [159138472, 159138572], [159140461, 159140542], [159154052, 159154134], [159156589, 159156657], [159158676, 159158795], [159161450, 159161570], [159162660, 159162758], [159165447, 159165501], [159174595, 159176439]] [[159133819, 159133928], [159136342, 159136465], [159138472, 159138572], [159140461, 159140542], [159154052, 159154134], [159156589, 159156657], [159158676, 159158795], [159161450, 159161570], [159162660, 159162758], [159165447, 159165501], [159174595, 159174679]]
Promoter
Chrom Start End Description
chr4 159122728 159122766 CAGE_peak_9_at_TMEM144_5end
chr4 159131359 159131372 CAGE_peak_11_at_TMEM144_5end
chr4 159131486 159131501 CAGE_peak_8_at_TMEM144_5end
chr4 159131547 159131561 CAGE_peak_5_at_TMEM144_5end
chr4 159131566 159131577 CAGE_peak_6_at_TMEM144_5end
chr4 159131578 159131589 CAGE_peak_7_at_TMEM144_5end
chr4 159131596 159131623 CAGE_peak_3_at_TMEM144_5end
chr4 159131630 159131647 CAGE_peak_1_at_TMEM144_5end
chr4 159131661 159131687 CAGE_peak_2_at_TMEM144_5end
chr4 159131691 159131713 CAGE_peak_4_at_TMEM144_5end
chr4 159132652 159132663 CAGE_peak_13_at_TMEM144_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I158312 158312891 158316894 0.82 [{'connected_gene': 'RXFP1', 'score': 550.77}, {'connected_gene': 'LOC646890', 'score': 6.92}, {'connected_gene': 'TMEM144', 'score': 4.3}]
chr4 GH04I158259 158259718 158262115 0.52 [{'connected_gene': 'TMEM144', 'score': 4.23}, {'connected_gene': 'LOC646890', 'score': 0.44}, {'connected_gene': 'GC04P158212', 'score': 0.25}]
chr4 GH04I158248 158248119 158248403 0.45 [{'connected_gene': 'TMEM144', 'score': 12.11}, {'connected_gene': 'LOC646890', 'score': 0.34}, {'connected_gene': 'GC04P158212', 'score': 0.28}]
chr4 GH04I158215 158215655 158223093 0.43 [{'connected_gene': 'TMEM144', 'score': 5.01}, {'connected_gene': 'GC04P158212', 'score': 0.44}, {'connected_gene': 'LOC646890', 'score': 0.23}]
chr4 GH04I158249 158249194 158255326 0.56 [{'connected_gene': 'TMEM144', 'score': 7.14}, {'connected_gene': 'LOC646890', 'score': 6.68}, {'connected_gene': 'GC04P158212', 'score': 0.28}]
chr4 GH04I158208 158208764 158212154 2.42 [{'connected_gene': 'TMEM144', 'score': 555.41}, {'connected_gene': 'C4orf46', 'score': 10.72}, {'connected_gene': 'GC04P158212', 'score': 0.77}]
chr4 GH04I158019 158019461 158021996 1.25 [{'connected_gene': 'TMEM144', 'score': 1.65}, {'connected_gene': 'LOC105377509', 'score': 0.28}, {'connected_gene': 'ENSG00000250475', 'score': 0.23}]
chr4 GH04I158191 158191608 158191844 0.42 [{'connected_gene': 'TMEM144', 'score': 3.22}, {'connected_gene': 'ENSG00000250604', 'score': 0.44}, {'connected_gene': 'NUDT19P5', 'score': 0.44}, {'connected_gene': 'FAM198B-AS1', 'score': 0.34}]
chr4 GH04I158189 158189495 158190561 0.2 [{'connected_gene': 'TMEM144', 'score': 7.39}, {'connected_gene': 'NUDT19P5', 'score': 0.44}, {'connected_gene': 'ENSG00000250604', 'score': 0.39}, {'connected_gene': 'FAM198B-AS1', 'score': 0.37}]
chr4 GH04I158226 158226713 158246266 0.75 [{'connected_gene': 'PPID', 'score': 10.54}, {'connected_gene': 'TMEM144', 'score': 6.98}, {'connected_gene': 'FAM198B-AS1', 'score': 5.53}, {'connected_gene': 'LOC646890', 'score': 4.37}, {'connected_gene': 'GC04P158212', 'score': 0.34}]
chr4 GH04I158006 158006108 158010598 0.95 [{'connected_gene': 'FAM198B-AS1', 'score': 24.13}, {'connected_gene': 'TMEM144', 'score': 7.47}, {'connected_gene': 'FAM198B', 'score': 5.97}, {'connected_gene': 'ENSG00000250475', 'score': 0.28}, {'connected_gene': 'LOC105377509', 'score': 0.23}]
chr4 GH04I158163 158163308 158165634 1.06 [{'connected_gene': 'FAM198B-AS1', 'score': 31.88}, {'connected_gene': 'TMEM144', 'score': 8.34}, {'connected_gene': 'FAM198B', 'score': 0.44}, {'connected_gene': 'GC04P158124', 'score': 0.28}]
chr4 GH04I158158 158158607 158163128 1.33 [{'connected_gene': 'FAM198B-AS1', 'score': 31.32}, {'connected_gene': 'TMEM144', 'score': 8.32}, {'connected_gene': 'FAM198B', 'score': 0.39}, {'connected_gene': 'GC04P158124', 'score': 0.28}]
chr4 GH04I158155 158155114 158157962 0.71 [{'connected_gene': 'FAM198B-AS1', 'score': 57.46}, {'connected_gene': 'TMEM144', 'score': 14.33}, {'connected_gene': 'FAM198B', 'score': 0.37}, {'connected_gene': 'GC04P158124', 'score': 0.29}]
chr4 GH04I158119 158119908 158122957 0.72 [{'connected_gene': 'FAM198B-AS1', 'score': 34.21}, {'connected_gene': 'TMEM144', 'score': 6.13}, {'connected_gene': 'GC04P158124', 'score': 0.77}, {'connected_gene': 'ENSG00000280140', 'score': 0.44}]
chr4 GH04I158168 158168000 158175200 2.43 [{'connected_gene': 'FAM198B-AS1', 'score': 609.98}, {'connected_gene': 'FAM198B', 'score': 552.78}, {'connected_gene': 'TMEM144', 'score': 14.31}]
chr4 GH04I158212 158212530 158214172 0.2 [{'connected_gene': 'GC04P158212', 'score': 550.77}, {'connected_gene': 'TMEM144', 'score': 4.66}, {'connected_gene': 'LOC646890', 'score': 0.22}]
chr4 GH04I158214 158214316 158214816 0.2 [{'connected_gene': 'GC04P158212', 'score': 550.77}, {'connected_gene': 'TMEM144', 'score': 0.39}, {'connected_gene': 'LOC646890', 'score': 0.22}]
chr4 GH04I158201 158201601 158201800 0.76 [{'connected_gene': 'ENSG00000250604', 'score': 550.77}, {'connected_gene': 'TMEM144', 'score': 550.77}, {'connected_gene': 'GC04P158212', 'score': 0.39}, {'connected_gene': 'FAM198B-AS1', 'score': 0.29}]