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
ENST00000493368 [[37422662, 37422802], [37424841, 37424972], [37425918, 37425991], [37426534, 37426651], [37428480, 37429155]] None
ENST00000318158 [[37422662, 37422830], [37424841, 37424972], [37425918, 37425991], [37426534, 37426651], [37428480, 37428569], [37429728, 37429833], [37430507, 37430643], [37432004, 37432135], [37436657, 37436987]] [[37422747, 37422830], [37424841, 37424972], [37425918, 37425991], [37426534, 37426651], [37428480, 37428569], [37429728, 37429833], [37430507, 37430643], [37432004, 37432135], [37436657, 37436779]]
ENST00000460882 [[37422692, 37422802], [37424841, 37424972], [37425918, 37425991], [37426534, 37426651], [37428480, 37428569], [37429728, 37429833], [37430507, 37430643], [37432004, 37432135], [37436657, 37436845]] None
ENST00000487399 [[37422710, 37422802], [37424841, 37424972], [37425918, 37426647]] None
ENST00000377824 [[37422710, 37422830], [37424841, 37424972], [37425918, 37425991], [37426534, 37426651], [37428480, 37428569], [37429728, 37429833], [37430507, 37431716]] None
ENST00000491488 [[37422721, 37422830], [37428480, 37428569], [37429728, 37429833], [37430507, 37430643], [37432004, 37432135], [37436657, 37436689]] None
ENST00000607784 [[37422742, 37422830], [37424841, 37424972], [37425918, 37425991], [37426534, 37426651], [37428480, 37428569], [37429728, 37429833], [37430507, 37430643], [37432004, 37432135], [37434042, 37434876]] [[37422747, 37422830], [37424841, 37424972], [37425918, 37425991], [37426534, 37426651], [37428480, 37428569], [37429728, 37429833], [37430507, 37430643], [37432004, 37432135], [37434042, 37434254]]
ENST00000497693 [[37427702, 37432135], [37436657, 37436986]] None
ENST00000480596 [[37428534, 37429833], [37430507, 37430643], [37432004, 37432135], [37436657, 37436984]] None
ENST00000494290 [[37428991, 37429833], [37430507, 37431148], [37436877, 37436987]] [[37429664, 37429833], [37430507, 37431097]]
ENST00000482603 [[37429782, 37429833], [37430507, 37430643], [37432004, 37432135], [37432529, 37432808]] None
ENST00000512404 [[37432083, 37432405], [37433830, 37433878]] None
NM_012203 [[37422706, 37422830], [37424841, 37424972], [37425918, 37425991], [37426534, 37426651], [37428480, 37428569], [37429728, 37429833], [37430507, 37430643], [37432004, 37432135], [37436657, 37436986]] [[37422747, 37422830], [37424841, 37424972], [37425918, 37425991], [37426534, 37426651], [37428480, 37428569], [37429728, 37429833], [37430507, 37430643], [37432004, 37432135], [37436657, 37436779]]
Promoter
Chrom Start End Description
chr9 37422550 37422578 CAGE_peak_3_at_GRHPR_5end
chr9 37422670 37422728 CAGE_peak_1_at_GRHPR_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr9 GH09I037408 37408285 37410827 1.34 [{'connected_gene': 'ZBTB5', 'score': 10.43}, {'connected_gene': 'GRHPR', 'score': 7.81}, {'connected_gene': 'PAX5', 'score': 5.14}, {'connected_gene': 'ZCCHC7', 'score': 2.21}, {'connected_gene': 'TOMM5', 'score': 1.61}, {'connected_gene': 'POLR1E', 'score': 1.46}, {'connected_gene': 'LINC01627', 'score': 0.39}, {'connected_gene': 'LOC105376035', 'score': 0.26}]
chr9 GH09I037407 37407584 37407733 0.84 [{'connected_gene': 'ZBTB5', 'score': 10.43}, {'connected_gene': 'GRHPR', 'score': 7.71}, {'connected_gene': 'LINC01627', 'score': 0.39}, {'connected_gene': 'LOC105376035', 'score': 0.26}]
chr9 GH09I037410 37410904 37411293 0.88 [{'connected_gene': 'ZBTB5', 'score': 10.44}, {'connected_gene': 'ENSG00000234160', 'score': 5.32}, {'connected_gene': 'GRHPR', 'score': 0.39}, {'connected_gene': 'LINC01627', 'score': 0.37}, {'connected_gene': 'LOC105376035', 'score': 0.25}]
chr9 GH09I037463 37463345 37469184 2.28 [{'connected_gene': 'ZBTB5', 'score': 574.67}, {'connected_gene': 'DCAF10', 'score': 40.25}, {'connected_gene': 'EXOSC3', 'score': 40.2}, {'connected_gene': 'ZCCHC7', 'score': 31.65}, {'connected_gene': 'RPL21P83', 'score': 15.18}, {'connected_gene': 'RNF38', 'score': 12.37}, {'connected_gene': 'TRMT10B', 'score': 12.04}, {'connected_gene': 'GRHPR', 'score': 11.35}, {'connected_gene': 'TMX2P1', 'score': 11.23}, {'connected_gene': 'POLR1E', 'score': 10.12}, {'connected_gene': 'KCTD9P3', 'score': 0.39}]
chr9 GH09I037412 37411344 37411493 0.99 [{'connected_gene': 'ZBTB5', 'score': 23.17}, {'connected_gene': 'EXOSC3', 'score': 18.49}, {'connected_gene': 'DCAF10', 'score': 16.81}, {'connected_gene': 'ZCCHC7', 'score': 16.66}, {'connected_gene': 'GRHPR', 'score': 0.39}, {'connected_gene': 'LINC01627', 'score': 0.37}, {'connected_gene': 'LOC105376035', 'score': 0.25}]
chr9 GH09I037436 37436401 37437473 0.38 [{'connected_gene': 'ZBTB5', 'score': 11.52}, {'connected_gene': 'PIR34813', 'score': 0.77}, {'connected_gene': 'CHCHD4P3', 'score': 0.77}, {'connected_gene': 'GRHPR', 'score': 0.39}]
chr9 GH09I037430 37430596 37431414 0.94 [{'connected_gene': 'ZBTB5', 'score': 24.31}, {'connected_gene': 'CHCHD4P3', 'score': 0.77}, {'connected_gene': 'GRHPR', 'score': 0.44}]
chr9 GH09I037411 37411893 37413912 0.83 [{'connected_gene': 'GRHPR', 'score': 15.07}, {'connected_gene': 'ZBTB5', 'score': 10.49}, {'connected_gene': 'LINC01627', 'score': 0.37}, {'connected_gene': 'LOC105376035', 'score': 0.25}]
chr9 GH09I037449 37449904 37450053 0.4 [{'connected_gene': 'GRHPR', 'score': 11.84}, {'connected_gene': 'PIR45700', 'score': 0.44}, {'connected_gene': 'GC09M037461', 'score': 0.44}, {'connected_gene': 'ZBTB5', 'score': 0.37}]
chr9 GH09I037421 37421689 37424972 2.23 [{'connected_gene': 'GRHPR', 'score': 622.5}, {'connected_gene': 'SHB', 'score': 11.31}, {'connected_gene': 'CHCHD4P3', 'score': 0.39}]
chr9 GH09I037446 37446087 37447449 0.49 [{'connected_gene': 'GRHPR', 'score': 12.54}, {'connected_gene': 'PAX5', 'score': 10.02}, {'connected_gene': 'LOC105376032', 'score': 10.02}, {'connected_gene': 'PIR45700', 'score': 0.77}, {'connected_gene': 'GC09M037461', 'score': 0.39}, {'connected_gene': 'ZBTB5', 'score': 0.37}]
chr9 GH09I037416 37416423 37417188 0.31 [{'connected_gene': 'GRHPR', 'score': 0.44}, {'connected_gene': 'LINC01627', 'score': 0.34}, {'connected_gene': 'LOC105376035', 'score': 0.23}]
chr9 GH09I037418 37418264 37418433 0.75 [{'connected_gene': 'GRHPR', 'score': 0.77}, {'connected_gene': 'LINC01627', 'score': 0.34}, {'connected_gene': 'LOC105376035', 'score': 0.23}]
chr9 GH09I037404 37404921 37405987 0.76 [{'connected_gene': 'GRHPR', 'score': 8.04}, {'connected_gene': 'LINC01627', 'score': 0.39}, {'connected_gene': 'LOC105376035', 'score': 0.28}]
chr9 GH09I037476 37476984 37477133 0.38 [{'connected_gene': 'KCTD9P3', 'score': 550.77}, {'connected_gene': 'ENSG00000234160', 'score': 11.22}, {'connected_gene': 'GRHPR', 'score': 10.99}, {'connected_gene': 'ZCCHC7', 'score': 10.98}, {'connected_gene': 'ZBTB5', 'score': 0.39}]
chr9 GH09I037477 37477175 37477947 0.46 [{'connected_gene': 'KCTD9P3', 'score': 550.77}, {'connected_gene': 'ENSG00000234160', 'score': 11.22}, {'connected_gene': 'GRHPR', 'score': 10.99}, {'connected_gene': 'ZCCHC7', 'score': 10.98}, {'connected_gene': 'RPL21P83', 'score': 7.19}, {'connected_gene': 'POLR1E', 'score': 0.44}]
chr9 GH09I037485 37485062 37488539 2.21 [{'connected_gene': 'POLR1E', 'score': 580.95}, {'connected_gene': 'RPL21P83', 'score': 44.65}, {'connected_gene': 'ZCCHC7', 'score': 27.91}, {'connected_gene': 'EXOSC3', 'score': 23.7}, {'connected_gene': 'ZBTB5', 'score': 16.41}, {'connected_gene': 'FBXO10', 'score': 16.31}, {'connected_gene': 'ENSG00000234160', 'score': 12.54}, {'connected_gene': 'DCAF10', 'score': 11.04}, {'connected_gene': 'TOMM5', 'score': 10.79}, {'connected_gene': 'ENSG00000256966', 'score': 10.79}, {'connected_gene': 'TMX2P1', 'score': 9.83}, {'connected_gene': 'FRMPD1', 'score': 9.74}, {'connected_gene': 'GRHPR', 'score': 8.88}, {'connected_gene': 'GC09M037494', 'score': 0.77}]
chr9 GH09I037144 37144669 37147200 1.16 [{'connected_gene': 'PAX5', 'score': 10.97}, {'connected_gene': 'GRHPR', 'score': 5.66}, {'connected_gene': 'GC09P037160', 'score': 0.39}, {'connected_gene': 'ZCCHC7', 'score': 0.31}]
chr9 GH09I037413 37413978 37416343 1.58 [{'connected_gene': 'PAX5', 'score': 1.96}, {'connected_gene': 'GRHPR', 'score': 0.44}, {'connected_gene': 'LINC01627', 'score': 0.37}, {'connected_gene': 'LOC105376035', 'score': 0.25}]
chr9 GH09I037402 37402604 37404876 1.26 [{'connected_gene': 'PAX5', 'score': 25.95}, {'connected_gene': 'ZCCHC7', 'score': 13.09}, {'connected_gene': 'ZBTB5', 'score': 12.27}, {'connected_gene': 'LOC105376032', 'score': 10.79}, {'connected_gene': 'LOC105376034', 'score': 10.58}, {'connected_gene': 'GRHPR', 'score': 8.11}, {'connected_gene': 'LINC01627', 'score': 0.44}, {'connected_gene': 'LOC105376035', 'score': 0.28}]
chr9 GH09I037299 37299306 37305197 1.26 [{'connected_gene': 'PAX5', 'score': 11.15}, {'connected_gene': 'LOC105376032', 'score': 10.51}, {'connected_gene': 'GRHPR', 'score': 10.41}, {'connected_gene': 'GC09P037322', 'score': 0.34}, {'connected_gene': 'ENSG00000228292', 'score': 0.15}, {'connected_gene': 'ZCCHC7', 'score': 0.09}]
chr9 GH09I037433 37433450 37434793 0.58 [{'connected_gene': 'CHCHD4P3', 'score': 550.77}, {'connected_gene': 'ZBTB5', 'score': 23.55}, {'connected_gene': 'GRHPR', 'score': 6.68}]
chr9 GH09I037435 37435804 37436305 0.2 [{'connected_gene': 'CHCHD4P3', 'score': 550.77}, {'connected_gene': 'ZBTB5', 'score': 16.04}, {'connected_gene': 'GRHPR', 'score': 11.41}, {'connected_gene': 'PIR34813', 'score': 0.44}]
chr9 GH09I037432 37432594 37433327 0.38 [{'connected_gene': 'CHCHD4P3', 'score': 550.77}, {'connected_gene': 'ZBTB5', 'score': 11.24}, {'connected_gene': 'GRHPR', 'score': 0.39}]
chr9 GH09I037406 37406744 37406893 0.66 [{'connected_gene': 'LINC01627', 'score': 0.39}, {'connected_gene': 'GRHPR', 'score': 0.37}, {'connected_gene': 'LOC105376035', 'score': 0.26}]
chr9 GH09I037451 37451941 37453443 0.49 [{'connected_gene': 'RPL21P83', 'score': 18.24}, {'connected_gene': 'GRHPR', 'score': 11.7}, {'connected_gene': 'ZBTB5', 'score': 5.57}, {'connected_gene': 'GC09M037461', 'score': 0.44}, {'connected_gene': 'PIR45700', 'score': 0.39}]
chr9 GH09I037439 37439189 37443371 0.31 [{'connected_gene': 'PIR34813', 'score': 550.77}, {'connected_gene': 'PIR45700', 'score': 550.77}, {'connected_gene': 'ZBTB5', 'score': 25.25}, {'connected_gene': 'GRHPR', 'score': 11.46}, {'connected_gene': 'PAX5', 'score': 10.02}, {'connected_gene': 'LOC105376032', 'score': 10.02}, {'connected_gene': 'CHCHD4P3', 'score': 0.44}]