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
ENST00000304788 [[25593570, 25597217], [25604494, 25604811]] [[25596560, 25597217], [25604494, 25604584]]
NM_152667 [[25593570, 25597217], [25604494, 25604648]] [[25596560, 25597217], [25604494, 25604584]]
Promoter
Chrom Start End Description
chr20 25604581 25604656 CAGE_peak_1_at_NANP_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr20 GH20I025406 25406985 25409441 2.07 [{'connected_gene': 'GINS1', 'score': 550.77}, {'connected_gene': 'LOC105372581', 'score': 550.77}, {'connected_gene': 'PIR61298', 'score': 550.77}, {'connected_gene': 'ABHD12', 'score': 32.41}, {'connected_gene': 'NANP', 'score': 20.79}, {'connected_gene': 'PYGB', 'score': 20.47}, {'connected_gene': 'ZNF337', 'score': 10.48}, {'connected_gene': 'FAM182B', 'score': 10.13}, {'connected_gene': 'ZNF337-AS1', 'score': 9.78}]
chr20 GH20I025669 25669485 25670553 0.82 [{'connected_gene': 'MED28P7', 'score': 550.77}, {'connected_gene': 'GC20M025672', 'score': 550.77}, {'connected_gene': 'GC20P025670', 'score': 550.77}, {'connected_gene': 'ZNF337', 'score': 11.59}, {'connected_gene': 'NANP', 'score': 11.31}, {'connected_gene': 'ZNF337-AS1', 'score': 11.31}, {'connected_gene': 'RNU6ATAC17P', 'score': 11.23}, {'connected_gene': 'FAM182B', 'score': 7.11}, {'connected_gene': 'RN7SL594P', 'score': 0.37}]
chr20 GH20I025865 25865439 25866400 0.96 [{'connected_gene': 'FAM182B', 'score': 12.31}, {'connected_gene': 'NANP', 'score': 10.17}, {'connected_gene': 'ZNF337-AS1', 'score': 10.17}, {'connected_gene': 'ZNF337', 'score': 1.5}, {'connected_gene': 'PIR36382', 'score': 0.44}, {'connected_gene': 'GC20P025851', 'score': 0.37}]
chr20 GH20I026208 26208085 26209954 1.06 [{'connected_gene': 'MIR663A', 'score': 550.77}, {'connected_gene': 'GC20P026208', 'score': 550.77}, {'connected_gene': 'ZNF337', 'score': 13.84}, {'connected_gene': 'NANP', 'score': 10.22}, {'connected_gene': 'FAM182B', 'score': 4.52}, {'connected_gene': 'ZNF337-AS1', 'score': 4.26}, {'connected_gene': 'GC20P026233', 'score': 0.34}, {'connected_gene': 'MIR663AHG', 'score': 0.26}]
chr20 GH20I025067 25067210 25067908 0.81 [{'connected_gene': 'ZNF337', 'score': 10.57}, {'connected_gene': 'VSX1', 'score': 10.41}, {'connected_gene': 'NANP', 'score': 10.15}, {'connected_gene': 'ENSG00000275358', 'score': 0.77}]
chr20 GH20I025529 25529457 25530395 0.31 [{'connected_gene': 'ZNF337', 'score': 13.31}, {'connected_gene': 'NINL', 'score': 10.81}, {'connected_gene': 'NANP', 'score': 10.43}, {'connected_gene': 'ZNF337-AS1', 'score': 10.43}, {'connected_gene': 'GC20P025533', 'score': 0.77}, {'connected_gene': 'GC20P025489', 'score': 0.26}]
chr20 GH20I025739 25739714 25739914 0.6 [{'connected_gene': 'ZNF337', 'score': 11.75}, {'connected_gene': 'NANP', 'score': 5.16}, {'connected_gene': 'GC20P025734', 'score': 0.44}, {'connected_gene': 'LOC105372582', 'score': 0.39}, {'connected_gene': 'GC20M025711', 'score': 0.22}]
chr20 GH20I025686 25686105 25686254 0.63 [{'connected_gene': 'ZNF337', 'score': 11.62}, {'connected_gene': 'NANP', 'score': 11.22}, {'connected_gene': 'ZNF337-AS1', 'score': 11.22}, {'connected_gene': 'RNU6ATAC17P', 'score': 10.71}, {'connected_gene': 'ENSG00000278383', 'score': 0.44}]
chr20 GH20I025695 25695469 25697601 2.06 [{'connected_gene': 'ZNF337', 'score': 562.7}, {'connected_gene': 'NANP', 'score': 5.23}, {'connected_gene': 'ENSG00000278383', 'score': 0.37}]
chr20 GH20I025633 25633105 25633274 0.67 [{'connected_gene': 'ZNF337', 'score': 12.04}, {'connected_gene': 'RNU6ATAC17P', 'score': 11.84}, {'connected_gene': 'NANP', 'score': 0.44}, {'connected_gene': 'ZNF337-AS1', 'score': 0.44}, {'connected_gene': 'RN7SL594P', 'score': 0.34}]
chr20 GH20I025642 25642534 25643259 0.31 [{'connected_gene': 'ZNF337', 'score': 13.35}, {'connected_gene': 'RNU6ATAC17P', 'score': 11.47}, {'connected_gene': 'RN7SL594P', 'score': 0.39}, {'connected_gene': 'NANP', 'score': 0.37}, {'connected_gene': 'ZNF337-AS1', 'score': 0.37}]
chr20 GH20I025321 25321154 25322354 0.84 [{'connected_gene': 'ABHD12', 'score': 33.87}, {'connected_gene': 'GINS1', 'score': 12.09}, {'connected_gene': 'PYGB', 'score': 10.62}, {'connected_gene': 'NANP', 'score': 4.29}, {'connected_gene': 'GC20P025297', 'score': 0.34}, {'connected_gene': 'GC20P025348', 'score': 0.31}]
chr20 GH20I025317 25317085 25320071 1.42 [{'connected_gene': 'ABHD12', 'score': 51.19}, {'connected_gene': 'ACSS1', 'score': 9.76}, {'connected_gene': 'ZNF337', 'score': 6.43}, {'connected_gene': 'NANP', 'score': 4.29}, {'connected_gene': 'GC20P025297', 'score': 0.34}, {'connected_gene': 'GC20P025348', 'score': 0.31}]
chr20 GH20I025307 25307990 25312451 1.47 [{'connected_gene': 'ABHD12', 'score': 38.0}, {'connected_gene': 'PYGB', 'score': 17.4}, {'connected_gene': 'ENTPD6', 'score': 11.59}, {'connected_gene': 'ZNF337', 'score': 11.35}, {'connected_gene': 'FAM182B', 'score': 10.71}, {'connected_gene': 'ACSS1', 'score': 10.01}, {'connected_gene': 'NANP', 'score': 9.79}, {'connected_gene': 'ZNF337-AS1', 'score': 9.79}, {'connected_gene': 'GC20P025297', 'score': 0.39}, {'connected_gene': 'GC20P025348', 'score': 0.28}]
chr20 GH20I025357 25357982 25359085 0.38 [{'connected_gene': 'ABHD12', 'score': 35.04}, {'connected_gene': 'PYGB', 'score': 30.68}, {'connected_gene': 'NANP', 'score': 4.18}, {'connected_gene': 'GC20M025368', 'score': 0.39}, {'connected_gene': 'GC20P025348', 'score': 0.39}]
chr20 GH20I025525 25525001 25527086 1.26 [{'connected_gene': 'ABHD12', 'score': 24.15}, {'connected_gene': 'ZNF337', 'score': 13.36}, {'connected_gene': 'ENTPD6', 'score': 11.47}, {'connected_gene': 'RNU6ATAC17P', 'score': 11.25}, {'connected_gene': 'NANP', 'score': 10.11}, {'connected_gene': 'ZNF337-AS1', 'score': 10.11}, {'connected_gene': 'GC20P025533', 'score': 0.44}, {'connected_gene': 'GC20P025489', 'score': 0.28}, {'connected_gene': 'NINL', 'score': 0.22}]
chr20 GH20I025240 25240676 25241595 0.62 [{'connected_gene': 'ABHD12', 'score': 27.05}, {'connected_gene': 'ZNF337', 'score': 12.71}, {'connected_gene': 'NANP', 'score': 11.61}, {'connected_gene': 'ZNF337-AS1', 'score': 9.98}, {'connected_gene': 'LOC105372579', 'score': 0.77}, {'connected_gene': 'LOC105372580', 'score': 0.44}]
chr20 GH20I025460 25460601 25462124 0.51 [{'connected_gene': 'ABHD12', 'score': 37.89}, {'connected_gene': 'NANP', 'score': 4.89}, {'connected_gene': 'GC20P025489', 'score': 0.31}, {'connected_gene': 'PIR61820', 'score': 0.29}, {'connected_gene': 'NINL', 'score': 0.13}]
chr20 GH20I025545 25543665 25543874 0.67 [{'connected_gene': 'NINL', 'score': 12.86}, {'connected_gene': 'RNU6ATAC17P', 'score': 10.72}, {'connected_gene': 'NANP', 'score': 5.25}, {'connected_gene': 'PIR48473', 'score': 0.77}, {'connected_gene': 'GC20P025533', 'score': 0.39}]
chr20 GH20I025625 25625626 25625755 0.38 [{'connected_gene': 'NANP', 'score': 550.77}, {'connected_gene': 'ZNF337-AS1', 'score': 550.77}, {'connected_gene': 'FAM182B', 'score': 16.41}, {'connected_gene': 'ZNF337', 'score': 12.22}, {'connected_gene': 'RN7SL594P', 'score': 0.31}]
chr20 GH20I025622 25622226 25625134 2.29 [{'connected_gene': 'NANP', 'score': 564.03}, {'connected_gene': 'ZNF337-AS1', 'score': 562.72}, {'connected_gene': 'ZNF337', 'score': 25.9}, {'connected_gene': 'NINL', 'score': 20.31}, {'connected_gene': 'VN1R108P', 'score': 10.04}, {'connected_gene': 'FAM182B', 'score': 5.5}, {'connected_gene': 'RNU6ATAC17P', 'score': 0.39}]
chr20 GH20I025232 25232639 25240401 1.8 [{'connected_gene': 'LOC105372579', 'score': 550.77}, {'connected_gene': 'ABHD12', 'score': 37.53}, {'connected_gene': 'ZNF337', 'score': 24.15}, {'connected_gene': 'ZNF337-AS1', 'score': 23.55}, {'connected_gene': 'NANP', 'score': 19.6}, {'connected_gene': 'PYGB', 'score': 18.76}, {'connected_gene': 'NINL', 'score': 12.21}, {'connected_gene': 'ENTPD6', 'score': 11.76}, {'connected_gene': 'FAM182B', 'score': 8.07}, {'connected_gene': 'FAM182A', 'score': 3.96}, {'connected_gene': 'LOC100134868', 'score': 3.75}, {'connected_gene': 'ENSG00000277938', 'score': 0.44}, {'connected_gene': 'LOC105372580', 'score': 0.39}]
chr20 GH20I026009 26009102 26011401 1.48 [{'connected_gene': 'LOC100134868', 'score': 550.77}, {'connected_gene': 'ENSG00000231081', 'score': 550.77}, {'connected_gene': 'FAM182B', 'score': 36.58}, {'connected_gene': 'NANP', 'score': 19.15}, {'connected_gene': 'ABHD12', 'score': 12.25}, {'connected_gene': 'NINL', 'score': 4.49}, {'connected_gene': 'ZNF337', 'score': 3.76}, {'connected_gene': 'GC20P025998', 'score': 0.39}]
chr20 GH20I025531 25531686 25535289 0.96 [{'connected_gene': 'GC20P025533', 'score': 550.77}, {'connected_gene': 'ABHD12', 'score': 22.6}, {'connected_gene': 'PYGB', 'score': 19.32}, {'connected_gene': 'ZNF337', 'score': 13.31}, {'connected_gene': 'NINL', 'score': 12.04}, {'connected_gene': 'NANP', 'score': 10.43}, {'connected_gene': 'ZNF337-AS1', 'score': 10.43}, {'connected_gene': 'PIR48473', 'score': 0.39}]
chr20 GH20I025284 25284903 25287523 0.57 [{'connected_gene': 'ENSG00000276952', 'score': 550.77}, {'connected_gene': 'ABHD12', 'score': 35.95}, {'connected_gene': 'PYGB', 'score': 20.65}, {'connected_gene': 'ZNF337', 'score': 9.43}, {'connected_gene': 'NANP', 'score': 4.28}, {'connected_gene': 'GC20M025283', 'score': 0.77}]
chr20 GH20I025548 25548575 25552103 1.13 [{'connected_gene': 'PIR43236', 'score': 550.77}, {'connected_gene': 'ABHD12', 'score': 32.47}, {'connected_gene': 'ZNF337', 'score': 13.54}, {'connected_gene': 'RNU6ATAC17P', 'score': 10.79}, {'connected_gene': 'NANP', 'score': 10.46}, {'connected_gene': 'ZNF337-AS1', 'score': 10.46}, {'connected_gene': 'FAM182B', 'score': 6.25}, {'connected_gene': 'PIR44041', 'score': 0.44}, {'connected_gene': 'NINL', 'score': 0.28}]