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
ENST00000559250 [[24563261, 24563342], [24566100, 24566346], [24567411, 24567596], [24567683, 24567887], [24568257, 24568445], [24568766, 24568929], [24569203, 24569422], [24571961, 24572099], [24572368, 24572464], [24573050, 24573334]] [[24563277, 24563342], [24566100, 24566346], [24567411, 24567596], [24567683, 24567887], [24568257, 24568445], [24568766, 24568929], [24569203, 24569422], [24571961, 24572099], [24572368, 24572464], [24573050, 24573076]]
ENST00000216780 [[24563346, 24563643], [24566100, 24566346], [24567411, 24567596], [24567683, 24567887], [24568257, 24568445], [24568766, 24568929], [24569203, 24569422], [24571961, 24572099], [24572368, 24572464], [24572718, 24573339]] [[24563614, 24563643], [24566100, 24566346], [24567411, 24567596], [24567683, 24567887], [24568257, 24568445], [24568766, 24568929], [24569203, 24569422], [24571961, 24572099], [24572368, 24572464], [24572718, 24573173]]
ENST00000560736 [[24563358, 24563463], [24563974, 24564054], [24566100, 24566346], [24567411, 24567596], [24567683, 24567887], [24568257, 24568334]] [[24567538, 24567596], [24567683, 24567887], [24568257, 24568334]]
ENST00000396973 [[24563367, 24563643], [24566100, 24566346], [24567411, 24567596], [24567683, 24567887], [24568257, 24568445], [24568766, 24568929], [24569203, 24569771]] [[24563614, 24563643], [24566100, 24566346], [24567411, 24567596], [24567683, 24567887], [24568257, 24568445], [24568766, 24568929], [24569203, 24569514]]
ENST00000559837 [[24563402, 24563463], [24566100, 24566346], [24567411, 24567596], [24567683, 24567887], [24568257, 24568317]] [[24567538, 24567596], [24567683, 24567887], [24568257, 24568317]]
ENST00000560106 [[24563489, 24563643], [24563974, 24564054], [24566100, 24566346], [24567411, 24567596], [24567683, 24567800]] [[24563614, 24563643], [24563974, 24564054], [24566100, 24566120]]
ENST00000545054 [[24563509, 24564054], [24566100, 24566346], [24567411, 24567596], [24567683, 24567887], [24568257, 24568445], [24568766, 24568929], [24569203, 24569422], [24571961, 24572099], [24572368, 24572464], [24572718, 24573239]] [[24567538, 24567596], [24567683, 24567887], [24568257, 24568445], [24568766, 24568929], [24569203, 24569422], [24571961, 24572099], [24572368, 24572464], [24572718, 24573173]]
ENST00000561050 [[24563519, 24564054], [24566100, 24566346], [24567411, 24567596], [24567683, 24567887], [24568766, 24569452]] None
ENST00000561286 [[24563519, 24563643], [24563974, 24564054], [24567411, 24567596], [24567683, 24567887], [24568257, 24568445], [24568766, 24568929], [24569203, 24569422], [24571961, 24572099], [24572368, 24572464], [24572718, 24573333]] [[24567538, 24567596], [24567683, 24567887], [24568257, 24568445], [24568766, 24568929], [24569203, 24569422], [24571961, 24572099], [24572368, 24572464], [24572718, 24573173]]
ENST00000558674 [[24563521, 24564054], [24566100, 24566346], [24567411, 24567887], [24568257, 24568445], [24568766, 24569512]] None
ENST00000560657 [[24563558, 24563945], [24566100, 24566272]] None
ENST00000559584 [[24563565, 24563643], [24563974, 24564054], [24564351, 24564587], [24566100, 24566346], [24567411, 24567437]] [[24563614, 24563643], [24563974, 24564054], [24564351, 24564431]]
ENST00000558096 [[24563585, 24564054], [24566100, 24566346], [24567411, 24567596], [24567683, 24567887], [24568257, 24568445], [24568766, 24568929], [24569203, 24569422], [24571961, 24572099], [24572718, 24573339]] [[24567538, 24567596], [24567683, 24567887], [24568257, 24568445], [24568766, 24568929], [24569203, 24569422], [24571961, 24572099], [24572718, 24573173]]
ENST00000559503 [[24567720, 24567887], [24568257, 24568456], [24568766, 24568929], [24569203, 24569422], [24571961, 24572039]] [[24567720, 24567887], [24568257, 24568456], [24568766, 24568767]]
ENST00000559171 [[24569357, 24569422], [24571961, 24572099], [24579502, 24579807]] [[24569357, 24569422], [24571961, 24572099], [24579502, 24579627]]
ENST00000557969 [[24571883, 24572099], [24572368, 24572464], [24572718, 24572931]] None
NM_001018073 [[24563339, 24563643], [24566100, 24566346], [24567411, 24567596], [24567683, 24567887], [24568257, 24568445], [24568766, 24568929], [24569203, 24569962]] [[24563614, 24563643], [24566100, 24566346], [24567411, 24567596], [24567683, 24567887], [24568257, 24568445], [24568766, 24568929], [24569203, 24569514]]
NM_004563 [[24563339, 24563643], [24566100, 24566346], [24567411, 24567596], [24567683, 24567887], [24568257, 24568445], [24568766, 24568929], [24569203, 24569422], [24571961, 24572099], [24572368, 24572464], [24572718, 24573341]] [[24563614, 24563643], [24566100, 24566346], [24567411, 24567596], [24567683, 24567887], [24568257, 24568445], [24568766, 24568929], [24569203, 24569422], [24571961, 24572099], [24572368, 24572464], [24572718, 24573173]]
NM_001291556 [[24563339, 24563643], [24563974, 24564054], [24567411, 24567596], [24567683, 24567887], [24568257, 24568445], [24568766, 24568929], [24569203, 24569422], [24571961, 24572099], [24572368, 24572464], [24572718, 24573341]] [[24567538, 24567596], [24567683, 24567887], [24568257, 24568445], [24568766, 24568929], [24569203, 24569422], [24571961, 24572099], [24572368, 24572464], [24572718, 24573173]]
NM_001308054 [[24563489, 24564054], [24566100, 24566346], [24567411, 24567596], [24567683, 24567887], [24568257, 24568445], [24568766, 24568929], [24569203, 24569422], [24571961, 24572099], [24572368, 24572464], [24572718, 24573341]] [[24567538, 24567596], [24567683, 24567887], [24568257, 24568445], [24568766, 24568929], [24569203, 24569422], [24571961, 24572099], [24572368, 24572464], [24572718, 24573173]]
Promoter
Chrom Start End Description
chr14 24563348 24563400 CAGE_peak_2_at_PCK2_5end
chr14 24563512 24563528 CAGE_peak_1_at_PCK2_5end
chr14 24563722 24563729 CAGE_peak_6_at_PCK2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr14 GH14I024106 24106201 24106400 0.69 [{'connected_gene': 'CPNE6', 'score': 12.12}, {'connected_gene': 'CARMIL3', 'score': 11.98}, {'connected_gene': 'FITM1', 'score': 11.34}, {'connected_gene': 'PSME1', 'score': 11.31}, {'connected_gene': 'IRF9', 'score': 11.21}, {'connected_gene': 'EMC9', 'score': 10.96}, {'connected_gene': 'PSME2', 'score': 10.81}, {'connected_gene': 'RNF31', 'score': 10.81}, {'connected_gene': 'TM9SF1', 'score': 10.34}, {'connected_gene': 'ENSG00000254692', 'score': 9.96}, {'connected_gene': 'CHMP4A', 'score': 9.96}, {'connected_gene': 'NRL', 'score': 0.44}, {'connected_gene': 'DCAF11', 'score': 0.44}, {'connected_gene': 'PCK2', 'score': 0.39}]
chr14 GH14I024071 24071513 24071572 0.5 [{'connected_gene': 'CPNE6', 'score': 550.77}, {'connected_gene': 'PCK2', 'score': 0.34}]
chr14 GH14I024070 24070863 24070922 0.68 [{'connected_gene': 'CPNE6', 'score': 550.77}, {'connected_gene': 'PCK2', 'score': 0.34}]
chr14 GH14I024080 24080532 24082348 1.44 [{'connected_gene': 'CARMIL3', 'score': 12.89}, {'connected_gene': 'PSME2', 'score': 10.67}, {'connected_gene': 'RNF31', 'score': 10.67}, {'connected_gene': 'IPO4', 'score': 10.35}, {'connected_gene': 'TM9SF1', 'score': 10.34}, {'connected_gene': 'REC8', 'score': 9.96}, {'connected_gene': 'EMC9', 'score': 9.21}, {'connected_gene': 'PCK2', 'score': 0.39}, {'connected_gene': 'CPNE6', 'score': 0.39}, {'connected_gene': 'NRL', 'score': 0.29}]
chr14 GH14I024079 24079812 24079961 0.59 [{'connected_gene': 'CARMIL3', 'score': 11.97}, {'connected_gene': 'EMC9', 'score': 9.13}, {'connected_gene': 'CPNE6', 'score': 0.44}, {'connected_gene': 'PCK2', 'score': 0.39}, {'connected_gene': 'NRL', 'score': 0.28}]
chr14 GH14I024073 24073911 24076119 0.75 [{'connected_gene': 'DHRS4-AS1', 'score': 5.51}, {'connected_gene': 'CPNE6', 'score': 0.77}, {'connected_gene': 'PCK2', 'score': 0.37}]
chr14 GH14I024060 24060632 24062557 0.69 [{'connected_gene': 'PCK2', 'score': 11.66}, {'connected_gene': 'NRL', 'score': 11.6}, {'connected_gene': 'CARMIL3', 'score': 0.44}, {'connected_gene': 'LOC105370412', 'score': 0.44}]
chr14 GH14I024058 24058392 24058541 0.88 [{'connected_gene': 'PCK2', 'score': 21.65}, {'connected_gene': 'NRL', 'score': 11.69}, {'connected_gene': 'PSME2', 'score': 10.33}, {'connected_gene': 'RNF31', 'score': 10.33}, {'connected_gene': 'CARMIL3', 'score': 0.44}, {'connected_gene': 'LOC105370412', 'score': 0.44}]
chr14 GH14I024091 24090400 24096893 2.51 [{'connected_gene': 'PCK2', 'score': 550.77}, {'connected_gene': 'RNA5SP383', 'score': 31.84}, {'connected_gene': 'NGDN', 'score': 31.53}, {'connected_gene': 'ACIN1', 'score': 27.27}, {'connected_gene': 'NYNRIN', 'score': 22.27}, {'connected_gene': 'NFATC4', 'score': 21.86}, {'connected_gene': 'KHNYN', 'score': 21.33}, {'connected_gene': 'IPO4', 'score': 20.52}, {'connected_gene': 'SLC7A8', 'score': 14.08}, {'connected_gene': 'TINF2', 'score': 12.92}, {'connected_gene': 'CARMIL3', 'score': 11.9}, {'connected_gene': 'C14orf119', 'score': 11.57}, {'connected_gene': 'NRL', 'score': 11.43}, {'connected_gene': 'DCAF11', 'score': 11.43}, {'connected_gene': 'SDR39U1', 'score': 11.24}, {'connected_gene': 'ENSG00000259321', 'score': 10.98}, {'connected_gene': 'TM9SF1', 'score': 10.67}, {'connected_gene': 'IRF9', 'score': 10.38}, {'connected_gene': 'RNF31', 'score': 10.16}, {'connected_gene': 'EMC9', 'score': 10.11}, {'connected_gene': 'LOC102724814', 'score': 10.05}, {'connected_gene': 'EFS', 'score': 9.91}, {'connected_gene': 'TSSK4', 'score': 9.89}, {'connected_gene': 'NOP9', 'score': 9.77}, {'connected_gene': 'DHRS4', 'score': 5.72}, {'connected_gene': 'CPNE6', 'score': 0.34}]
chr14 GH14I024108 24108116 24109600 1.19 [{'connected_gene': 'EMC9', 'score': 17.68}, {'connected_gene': 'CPNE6', 'score': 12.12}, {'connected_gene': 'CARMIL3', 'score': 11.97}, {'connected_gene': 'FITM1', 'score': 11.34}, {'connected_gene': 'PSME1', 'score': 11.31}, {'connected_gene': 'IRF9', 'score': 11.21}, {'connected_gene': 'PSME2', 'score': 10.83}, {'connected_gene': 'RNF31', 'score': 10.83}, {'connected_gene': 'TM9SF1', 'score': 10.34}, {'connected_gene': 'ENSG00000254692', 'score': 9.96}, {'connected_gene': 'CHMP4A', 'score': 9.96}, {'connected_gene': 'NRL', 'score': 0.44}, {'connected_gene': 'DCAF11', 'score': 0.44}, {'connected_gene': 'PCK2', 'score': 0.39}]
chr14 GH14I024109 24109941 24111410 0.9 [{'connected_gene': 'EMC9', 'score': 4.43}, {'connected_gene': 'NRL', 'score': 0.77}, {'connected_gene': 'DCAF11', 'score': 0.77}, {'connected_gene': 'PCK2', 'score': 0.37}]
chr14 GH14I024086 24086636 24086835 0.35 [{'connected_gene': 'NRL', 'score': 23.64}, {'connected_gene': 'CARMIL3', 'score': 12.73}, {'connected_gene': 'DCAF11', 'score': 11.4}, {'connected_gene': 'IRF9', 'score': 10.36}, {'connected_gene': 'IPO4', 'score': 10.02}, {'connected_gene': 'TM9SF1', 'score': 10.02}, {'connected_gene': 'TSSK4', 'score': 9.88}, {'connected_gene': 'PCK2', 'score': 0.44}, {'connected_gene': 'CPNE6', 'score': 0.37}]
chr14 GH14I024084 24084624 24084683 0.5 [{'connected_gene': 'NRL', 'score': 550.29}, {'connected_gene': 'CARMIL3', 'score': 11.73}, {'connected_gene': 'PSME2', 'score': 10.67}, {'connected_gene': 'RNF31', 'score': 10.67}, {'connected_gene': 'IPO4', 'score': 10.0}, {'connected_gene': 'TM9SF1', 'score': 9.99}, {'connected_gene': 'REC8', 'score': 9.71}, {'connected_gene': 'PCK2', 'score': 0.44}, {'connected_gene': 'CPNE6', 'score': 0.39}]
chr14 GH14I024083 24083616 24083675 0.79 [{'connected_gene': 'NRL', 'score': 550.29}, {'connected_gene': 'CARMIL3', 'score': 11.73}, {'connected_gene': 'PSME2', 'score': 10.67}, {'connected_gene': 'RNF31', 'score': 10.67}, {'connected_gene': 'IPO4', 'score': 10.0}, {'connected_gene': 'TM9SF1', 'score': 9.99}, {'connected_gene': 'REC8', 'score': 9.71}, {'connected_gene': 'PCK2', 'score': 0.39}, {'connected_gene': 'CPNE6', 'score': 0.39}]
chr14 GH14I024090 24090212 24090361 0.66 [{'connected_gene': 'NRL', 'score': 11.43}, {'connected_gene': 'DCAF11', 'score': 11.43}, {'connected_gene': 'CARMIL3', 'score': 11.34}, {'connected_gene': 'IRF9', 'score': 10.36}, {'connected_gene': 'IPO4', 'score': 10.03}, {'connected_gene': 'TM9SF1', 'score': 10.02}, {'connected_gene': 'TSSK4', 'score': 9.88}, {'connected_gene': 'PCK2', 'score': 0.77}, {'connected_gene': 'CPNE6', 'score': 0.37}]
chr14 GH14I024113 24113283 24116397 2.13 [{'connected_gene': 'NRL', 'score': 550.77}, {'connected_gene': 'DCAF11', 'score': 550.77}, {'connected_gene': 'RNF31', 'score': 32.74}, {'connected_gene': 'NFATC4', 'score': 32.08}, {'connected_gene': 'IPO4', 'score': 31.32}, {'connected_gene': 'HOMEZ', 'score': 30.09}, {'connected_gene': 'RNA5SP383', 'score': 27.44}, {'connected_gene': 'TSSK4', 'score': 24.61}, {'connected_gene': 'TM9SF1', 'score': 24.46}, {'connected_gene': 'KHNYN', 'score': 24.4}, {'connected_gene': 'NGDN', 'score': 24.35}, {'connected_gene': 'TINF2', 'score': 23.38}, {'connected_gene': 'LOC102724814', 'score': 21.0}, {'connected_gene': 'THTPA', 'score': 19.2}, {'connected_gene': 'EMC9', 'score': 18.08}, {'connected_gene': 'NOP9', 'score': 12.09}, {'connected_gene': 'PSME1', 'score': 11.86}, {'connected_gene': 'PCK2', 'score': 11.13}, {'connected_gene': 'PSME2', 'score': 11.04}, {'connected_gene': 'IRF9', 'score': 10.43}, {'connected_gene': 'EFS', 'score': 9.9}, {'connected_gene': 'CIDEB', 'score': 9.79}]
chr14 GH14I024032 24032828 24033841 1.11 [{'connected_gene': 'DHRS4L2', 'score': 13.43}, {'connected_gene': 'DHRS4', 'score': 10.98}, {'connected_gene': 'PCK2', 'score': 10.93}, {'connected_gene': 'NRL', 'score': 10.9}, {'connected_gene': 'PIR58946', 'score': 0.77}, {'connected_gene': 'DHRS4L1', 'score': 0.31}]
chr14 GH14I024123 24123152 24124568 0.6 [{'connected_gene': 'PIR38746', 'score': 550.77}, {'connected_gene': 'PIR61331', 'score': 550.77}, {'connected_gene': 'REC8', 'score': 11.54}, {'connected_gene': 'PSME2', 'score': 11.32}, {'connected_gene': 'RNF31', 'score': 11.32}, {'connected_gene': 'PCK2', 'score': 10.93}, {'connected_gene': 'IPO4', 'score': 10.68}, {'connected_gene': 'TM9SF1', 'score': 10.67}, {'connected_gene': 'TSSK4', 'score': 9.67}, {'connected_gene': 'EMC9', 'score': 6.49}, {'connected_gene': 'ENSG00000259371', 'score': 0.77}, {'connected_gene': 'DCAF11', 'score': 0.44}]
chr14 GH14I024035 24035732 24037461 1.53 [{'connected_gene': 'PIR58946', 'score': 550.77}, {'connected_gene': 'ACIN1', 'score': 21.66}, {'connected_gene': 'DHRS4L1', 'score': 19.2}, {'connected_gene': 'RNA5SP383', 'score': 15.87}, {'connected_gene': 'KHNYN', 'score': 15.64}, {'connected_gene': 'TM9SF1', 'score': 14.71}, {'connected_gene': 'C14orf119', 'score': 13.49}, {'connected_gene': 'LOC102724814', 'score': 12.71}, {'connected_gene': 'DHRS4L2', 'score': 12.67}, {'connected_gene': 'RNF31', 'score': 12.58}, {'connected_gene': 'TINF2', 'score': 12.3}, {'connected_gene': 'PABPN1', 'score': 11.78}, {'connected_gene': 'DHRS4', 'score': 11.75}, {'connected_gene': 'PCK2', 'score': 11.3}, {'connected_gene': 'NRL', 'score': 11.26}, {'connected_gene': 'HOMEZ', 'score': 9.85}, {'connected_gene': 'CIDEB', 'score': 9.77}, {'connected_gene': 'CDH24', 'score': 9.69}, {'connected_gene': 'DHRS4-AS1', 'score': 4.54}]

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