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
ENST00000262605 [[43104525, 43104631], [43108624, 43109084], [43112976, 43113170], [43115235, 43115346], [43117903, 43123244]] [[43108639, 43109084], [43112976, 43113170], [43115235, 43115346], [43117903, 43118182]]
ENST00000372904 [[43104527, 43104631], [43107263, 43107287], [43108624, 43109084], [43112976, 43113170], [43115235, 43115346], [43117903, 43123244]] [[43108639, 43109084], [43112976, 43113170], [43115235, 43115346], [43117903, 43118182]]
ENST00000372906 [[43104543, 43104631], [43108607, 43109084], [43117903, 43118477]] [[43108639, 43109084], [43117903, 43117923]]
ENST00000456317 [[43104559, 43104631], [43108624, 43109084], [43112976, 43113068], [43115235, 43115346], [43117903, 43118094]] [[43108639, 43109084], [43112976, 43113068], [43115235, 43115346], [43117903, 43118094]]
ENST00000461134 [[43114444, 43115346], [43117903, 43120456]] None
NM_001261839 [[43104525, 43104631], [43108624, 43109084], [43112976, 43113068], [43115235, 43115346], [43117903, 43123244]] [[43108639, 43109084], [43112976, 43113068], [43115235, 43115346], [43117903, 43118182]]
NM_001039199 [[43104525, 43104631], [43108624, 43109084], [43112976, 43113170], [43115235, 43115346], [43117903, 43123244]] [[43108639, 43109084], [43112976, 43113170], [43115235, 43115346], [43117903, 43118182]]
NM_024331 [[43104525, 43104631], [43107263, 43107287], [43108624, 43109084], [43112976, 43113170], [43115235, 43115346], [43117903, 43123244]] [[43108639, 43109084], [43112976, 43113170], [43115235, 43115346], [43117903, 43118182]]
Promoter
Chrom Start End Description
chr20 43104508 43104540 CAGE_peak_1_at_TTPAL_5end
chr20 43104541 43104576 CAGE_peak_2_at_TTPAL_5end
chr20 43108534 43108543 CAGE_peak_5_at_TTPAL_5end
chr20 43108553 43108569 CAGE_peak_3_at_TTPAL_5end
chr20 43108611 43108614 CAGE_peak_7_at_TTPAL_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr20 GH20I044475 44475110 44477563 2.07 [{'connected_gene': 'TTPAL', 'score': 550.77}, {'connected_gene': 'SYS1', 'score': 18.97}, {'connected_gene': 'PIGT', 'score': 9.81}, {'connected_gene': 'PKIG', 'score': 5.2}, {'connected_gene': 'GC20P044473', 'score': 0.77}, {'connected_gene': 'PIR42438', 'score': 0.44}]
chr20 GH20I044571 44571318 44574618 1.36 [{'connected_gene': 'TTPAL', 'score': 4.98}, {'connected_gene': 'PKIG', 'score': 0.26}, {'connected_gene': 'PIR61280', 'score': 0.25}, {'connected_gene': 'GC20M044554', 'score': 0.19}]
chr20 GH20I044569 44569820 44571055 0.46 [{'connected_gene': 'TTPAL', 'score': 5.13}, {'connected_gene': 'PKIG', 'score': 0.28}, {'connected_gene': 'PIR61280', 'score': 0.23}, {'connected_gene': 'GC20M044554', 'score': 0.18}]
chr20 GH20I044567 44566795 44567861 0.31 [{'connected_gene': 'TTPAL', 'score': 4.96}, {'connected_gene': 'PKIG', 'score': 0.28}, {'connected_gene': 'PIR61280', 'score': 0.23}, {'connected_gene': 'GC20M044554', 'score': 0.18}]
chr20 GH20I044536 44536401 44536800 0.38 [{'connected_gene': 'TTPAL', 'score': 5.01}, {'connected_gene': 'PKIG', 'score': 0.77}, {'connected_gene': 'PIR61280', 'score': 0.18}]
chr20 GH20I044548 44548084 44549827 1.07 [{'connected_gene': 'TTPAL', 'score': 5.26}, {'connected_gene': 'PKIG', 'score': 0.37}, {'connected_gene': 'PIR61280', 'score': 0.19}]
chr20 GH20I044608 44608490 44612180 1.72 [{'connected_gene': 'KCNK15', 'score': 12.11}, {'connected_gene': 'PKIG', 'score': 11.08}, {'connected_gene': 'SYS1', 'score': 9.78}, {'connected_gene': 'TTPAL', 'score': 5.19}, {'connected_gene': 'ENSG00000132832', 'score': 4.4}, {'connected_gene': 'ADA', 'score': 3.07}, {'connected_gene': 'OSER1', 'score': 1.93}, {'connected_gene': 'STK4', 'score': 1.36}, {'connected_gene': 'PIR61280', 'score': 0.39}, {'connected_gene': 'GC20M044554', 'score': 0.28}]
chr20 GH20I044165 44165339 44168193 0.99 [{'connected_gene': 'JPH2', 'score': 11.24}, {'connected_gene': 'FITM2', 'score': 10.76}, {'connected_gene': 'OSER1', 'score': 7.3}, {'connected_gene': 'TTPAL', 'score': 6.35}, {'connected_gene': 'GC20P044130', 'score': 0.28}]
chr20 GH20I044467 44467235 44467510 0.89 [{'connected_gene': 'RPL37AP1', 'score': 550.77}, {'connected_gene': 'GC20M044467', 'score': 550.77}, {'connected_gene': 'PKIG', 'score': 10.18}, {'connected_gene': 'HNF4A', 'score': 4.66}, {'connected_gene': 'TTPAL', 'score': 2.51}, {'connected_gene': 'GC20P044473', 'score': 0.44}]
chr20 GH20I044455 44455988 44460572 0.88 [{'connected_gene': 'FITM2', 'score': 10.12}, {'connected_gene': 'ENSG00000132832', 'score': 5.06}, {'connected_gene': 'TTPAL', 'score': 4.97}, {'connected_gene': 'LINC01620', 'score': 0.44}, {'connected_gene': 'LINC01430', 'score': 0.44}, {'connected_gene': 'MIR3646', 'score': 0.23}]
chr20 GH20I044309 44309671 44311830 2.07 [{'connected_gene': 'FITM2', 'score': 550.77}, {'connected_gene': 'IFT52', 'score': 12.84}, {'connected_gene': 'TTPAL', 'score': 4.89}, {'connected_gene': 'GC20M044290', 'score': 0.37}]
chr20 GH20I044530 44530878 44533179 2.26 [{'connected_gene': 'PKIG', 'score': 556.65}, {'connected_gene': 'SYS1', 'score': 9.78}, {'connected_gene': 'TTPAL', 'score': 6.12}, {'connected_gene': 'PIR61280', 'score': 0.17}]
chr20 GH20I044578 44578538 44588463 2.37 [{'connected_gene': 'PKIG', 'score': 555.56}, {'connected_gene': 'TTPAL', 'score': 5.31}, {'connected_gene': 'OSER1', 'score': 1.25}, {'connected_gene': 'PIR61280', 'score': 0.28}, {'connected_gene': 'GC20M044554', 'score': 0.21}]
chr20 GH20I044525 44525604 44526802 0.58 [{'connected_gene': 'PKIG', 'score': 6.32}, {'connected_gene': 'TTPAL', 'score': 5.18}, {'connected_gene': 'SERINC3', 'score': 0.77}]
chr20 GH20I044596 44596833 44602589 1.67 [{'connected_gene': 'PKIG', 'score': 567.72}, {'connected_gene': 'TTPAL', 'score': 5.29}, {'connected_gene': 'PIR61280', 'score': 0.34}, {'connected_gene': 'GC20M044554', 'score': 0.25}]
chr20 GH20I044594 44594160 44595504 1.37 [{'connected_gene': 'PKIG', 'score': 12.39}, {'connected_gene': 'SERINC3', 'score': 11.9}, {'connected_gene': 'ADA', 'score': 10.75}, {'connected_gene': 'LINC01620', 'score': 9.88}, {'connected_gene': 'LINC01430', 'score': 9.88}, {'connected_gene': 'TTPAL', 'score': 4.86}, {'connected_gene': 'PIR61280', 'score': 0.31}, {'connected_gene': 'GC20M044554', 'score': 0.23}]
chr20 GH20I044613 44613697 44617067 1.09 [{'connected_gene': 'PKIG', 'score': 16.79}, {'connected_gene': 'ADA', 'score': 12.09}, {'connected_gene': 'TTPAL', 'score': 5.13}, {'connected_gene': 'PIR61280', 'score': 0.44}, {'connected_gene': 'GC20M044554', 'score': 0.29}]
chr20 GH20I044518 44518965 44523782 2.24 [{'connected_gene': 'SERINC3', 'score': 560.86}, {'connected_gene': 'PKIG', 'score': 6.28}, {'connected_gene': 'TTPAL', 'score': 5.11}, {'connected_gene': 'PIR36658', 'score': 0.34}, {'connected_gene': 'GC20M044500', 'score': 0.34}]
chr20 GH20I044617 44617940 44619515 0.76 [{'connected_gene': 'ADA', 'score': 12.11}, {'connected_gene': 'PKIG', 'score': 11.29}, {'connected_gene': 'TTPAL', 'score': 4.52}, {'connected_gene': 'PIR61280', 'score': 0.77}, {'connected_gene': 'GC20M044554', 'score': 0.31}]
chr20 GH20I044491 44491043 44492929 0.63 [{'connected_gene': 'GC20P044491', 'score': 550.77}, {'connected_gene': 'PIR37618', 'score': 550.77}, {'connected_gene': 'RPL37AP1', 'score': 12.54}, {'connected_gene': 'SERINC3', 'score': 12.04}, {'connected_gene': 'PKIG', 'score': 11.58}, {'connected_gene': 'LINC01620', 'score': 11.15}, {'connected_gene': 'LINC01430', 'score': 11.15}, {'connected_gene': 'TTPAL', 'score': 0.37}, {'connected_gene': 'GC20P044473', 'score': 0.37}]
chr20 GH20I044493 44493549 44498361 1.25 [{'connected_gene': 'GC20P044495', 'score': 550.77}, {'connected_gene': 'PIR46342', 'score': 550.77}, {'connected_gene': 'PKIG', 'score': 17.51}, {'connected_gene': 'TTPAL', 'score': 17.4}, {'connected_gene': 'SERINC3', 'score': 13.18}, {'connected_gene': 'RPL37AP1', 'score': 12.54}, {'connected_gene': 'LINC01620', 'score': 11.14}, {'connected_gene': 'LINC01430', 'score': 11.14}, {'connected_gene': 'OSER1', 'score': 1.56}, {'connected_gene': 'ADA', 'score': 1.48}, {'connected_gene': 'STK4', 'score': 1.22}, {'connected_gene': 'PIR60204', 'score': 0.77}, {'connected_gene': 'GC20P044491', 'score': 0.77}, {'connected_gene': 'GC20P044473', 'score': 0.34}]
chr20 GH20I044489 44489157 44490894 0.83 [{'connected_gene': 'GC20P044491', 'score': 550.77}, {'connected_gene': 'SERINC3', 'score': 7.25}, {'connected_gene': 'PKIG', 'score': 6.15}, {'connected_gene': 'PIR42438', 'score': 0.77}, {'connected_gene': 'TTPAL', 'score': 0.39}, {'connected_gene': 'GC20P044473', 'score': 0.37}]
chr20 GH20I044621 44621132 44622310 0.31 [{'connected_gene': 'PIR61280', 'score': 550.77}, {'connected_gene': 'ADA', 'score': 12.42}, {'connected_gene': 'PKIG', 'score': 10.92}, {'connected_gene': 'TTPAL', 'score': 4.92}, {'connected_gene': 'PIR48727', 'score': 0.77}, {'connected_gene': 'GC20M044554', 'score': 0.31}]
chr20 GH20I044623 44623901 44626796 0.46 [{'connected_gene': 'PIR48727', 'score': 550.77}, {'connected_gene': 'ADA', 'score': 12.44}, {'connected_gene': 'PKIG', 'score': 11.14}, {'connected_gene': 'TTPAL', 'score': 5.11}, {'connected_gene': 'PIR61280', 'score': 0.77}, {'connected_gene': 'GC20M044554', 'score': 0.34}]