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
ENST00000506198 [[56262123, 56262563], [56290704, 56290810], [56291542, 56291824]] [[56262356, 56262563], [56290704, 56290810], [56291542, 56291619]]
ENST00000381334 [[56262123, 56262563], [56277780, 56278006], [56283238, 56283414], [56283969, 56284152], [56290704, 56290810], [56291542, 56292339]] [[56262356, 56262563], [56277780, 56278006], [56283238, 56283414], [56283969, 56284152], [56290704, 56290810], [56291542, 56291619]]
ENST00000508404 [[56262129, 56262563], [56269402, 56269505], [56277780, 56278006], [56283238, 56283414], [56283969, 56284152], [56290704, 56290810], [56291542, 56291971]] [[56262356, 56262563], [56269402, 56269426]]
ENST00000542052 [[56262129, 56262563], [56269402, 56269505], [56277780, 56278006], [56283238, 56283414], [56283969, 56284152], [56290704, 56290810], [56291542, 56291971]] [[56269487, 56269505], [56277780, 56278006], [56283238, 56283414], [56283969, 56284152], [56290704, 56290810], [56291542, 56291619]]
ENST00000514070 [[56262417, 56262563], [56263285, 56263572]] None
ENST00000511710 [[56265089, 56265420], [56277780, 56278006], [56283238, 56283412]] None
ENST00000502797 [[56269409, 56269505], [56277780, 56278323]] None
ENST00000514904 [[56281437, 56282324], [56283238, 56283414], [56283969, 56284152], [56290704, 56290810], [56291542, 56291712]] None
ENST00000508561 [[56283089, 56283414], [56283969, 56284015], [56284214, 56284331], [56290704, 56290810], [56291542, 56291704]] None
ENST00000608091 [[56283295, 56283414], [56283969, 56284152], [56290704, 56290810], [56318405, 56319564]] [[56283295, 56283414], [56283969, 56284152], [56290704, 56290810], [56318405, 56318473]]
ENST00000509575 [[56283857, 56284152], [56290704, 56290979]] None
ENST00000506103 [[56284085, 56284331], [56290704, 56290810], [56318405, 56318625]] [[56284085, 56284167]]
ENST00000515591 [[56289280, 56290810], [56291542, 56291798]] None
NM_018475 [[56262079, 56262563], [56277780, 56278006], [56283238, 56283414], [56283969, 56284152], [56290704, 56290810], [56291542, 56292342]] [[56262356, 56262563], [56277780, 56278006], [56283238, 56283414], [56283969, 56284152], [56290704, 56290810], [56291542, 56291619]]
NR_073070 [[56262079, 56262563], [56269402, 56269505], [56277780, 56278006], [56283238, 56283414], [56283969, 56284152], [56290704, 56290810], [56291542, 56292342]] None
Promoter
Chrom Start End Description
chr4 56261764 56261833 CAGE_peak_3_at_TMEM165_5end
chr4 56262082 56262111 CAGE_peak_2_at_TMEM165_5end
chr4 56262115 56262140 CAGE_peak_1_at_TMEM165_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I055409 55409094 55410044 0.87 [{'connected_gene': 'CLOCK', 'score': 11.0}, {'connected_gene': 'GC04P055413', 'score': 0.77}, {'connected_gene': 'TMEM165', 'score': 0.39}, {'connected_gene': 'GC04P055398', 'score': 0.39}]
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 GH04I055368 55368747 55374908 0.2 [{'connected_gene': 'SRD5A3', 'score': 22.28}, {'connected_gene': 'CLOCK', 'score': 19.67}, {'connected_gene': 'TMEM165', 'score': 9.95}, {'connected_gene': 'ENSG00000272969', 'score': 8.57}, {'connected_gene': 'SRD5A3-AS1', 'score': 4.8}, {'connected_gene': 'LOC105377659', 'score': 0.44}, {'connected_gene': 'PIR32131', 'score': 0.37}]
chr4 GH04I055345 55345601 55348230 2.21 [{'connected_gene': 'SRD5A3', 'score': 569.65}, {'connected_gene': 'TMEM165', 'score': 9.28}, {'connected_gene': 'FCF1P8', 'score': 0.44}]
chr4 GH04I055348 55348281 55348850 0.43 [{'connected_gene': 'TMEM165', 'score': 14.71}, {'connected_gene': 'CLOCK', 'score': 10.18}, {'connected_gene': 'SRD5A3', 'score': 0.77}, {'connected_gene': 'FCF1P8', 'score': 0.77}]
chr4 GH04I055442 55442213 55443226 0.2 [{'connected_gene': 'TMEM165', 'score': 28.74}, {'connected_gene': 'PIR52615', 'score': 0.39}, {'connected_gene': 'GC04M055433', 'score': 0.39}, {'connected_gene': 'ENSG00000238585', 'score': 0.22}, {'connected_gene': 'GC04M055502', 'score': 0.22}, {'connected_gene': 'CLOCK', 'score': 0.15}]
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 GH04I055364 55364221 55365578 0.4 [{'connected_gene': 'TMEM165', 'score': 30.97}, {'connected_gene': 'ENSG00000273257', 'score': 5.09}, {'connected_gene': 'LOC105377659', 'score': 0.39}, {'connected_gene': 'PIR32131', 'score': 0.39}, {'connected_gene': 'SRD5A3', 'score': 0.37}, {'connected_gene': 'SRD5A3-AS1', 'score': 0.29}]
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 GH04I055356 55356464 55357774 0.69 [{'connected_gene': 'TMEM165', 'score': 16.31}, {'connected_gene': 'SRD5A3-AS1', 'score': 12.96}, {'connected_gene': 'PIR32131', 'score': 0.77}, {'connected_gene': 'SRD5A3', 'score': 0.39}, {'connected_gene': 'LOC105377659', 'score': 0.34}]
chr4 GH04I055336 55336694 55336843 0.56 [{'connected_gene': 'TMEM165', 'score': 9.84}, {'connected_gene': 'SRD5A3-AS1', 'score': 5.25}, {'connected_gene': 'SRD5A3', 'score': 0.44}, {'connected_gene': 'LRRC34P2', 'score': 0.34}]
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 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 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 GH04I055436 55436932 55439699 1.04 [{'connected_gene': 'RN7SKP30', 'score': 34.99}, {'connected_gene': 'TMEM165', 'score': 28.8}, {'connected_gene': 'CLOCK', 'score': 19.85}, {'connected_gene': 'SRD5A3-AS1', 'score': 12.26}, {'connected_gene': 'PIR52615', 'score': 0.44}, {'connected_gene': 'GC04M055433', 'score': 0.44}, {'connected_gene': 'ENSG00000238585', 'score': 0.21}, {'connected_gene': 'GC04M055502', 'score': 0.21}]
chr4 GH04I055445 55445301 55447019 0.38 [{'connected_gene': 'RN7SKP30', 'score': 30.67}, {'connected_gene': 'TMEM165', 'score': 29.09}, {'connected_gene': 'CLOCK', 'score': 19.9}, {'connected_gene': 'PIR52615', 'score': 0.39}, {'connected_gene': 'GC04M055433', 'score': 0.39}, {'connected_gene': 'ENSG00000238585', 'score': 0.22}, {'connected_gene': 'GC04M055502', 'score': 0.22}]
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 GH04I055311 55311855 55312119 0.92 [{'connected_gene': 'LRRC34P2', 'score': 550.77}, {'connected_gene': 'KDR', 'score': 9.65}, {'connected_gene': 'TMEM165', 'score': 2.2}, {'connected_gene': 'SRD5A3', 'score': 1.59}, {'connected_gene': 'RNU6-746P', '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}]