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
ENST00000389120 [[104296132, 104296196], [104297679, 104297834], [104302484, 104302652], [104302771, 104302919], [104303074, 104303257], [104307048, 104307167], [104309101, 104309248], [104309418, 104309496], [104309680, 104309800], [104312887, 104313067], [104313965, 104314101], [104314422, 104314544], [104314664, 104315035], [104316269, 104316387], [104316975, 104317125], [104319665, 104319878], [104323082, 104323208], [104323371, 104323512], [104324191, 104324293], [104324527, 104325622]] [[104297705, 104297834], [104302484, 104302652], [104302771, 104302919], [104303074, 104303257], [104307048, 104307167], [104309101, 104309248], [104309418, 104309496], [104309680, 104309800], [104312887, 104313067], [104313965, 104314101], [104314422, 104314544], [104314664, 104315035], [104316269, 104316387], [104316975, 104317125], [104319665, 104319878], [104323082, 104323208], [104323371, 104323512], [104324191, 104324293], [104324527, 104324704]]
ENST00000374819 [[104296169, 104296196], [104297679, 104297834], [104302484, 104302652], [104302771, 104302919], [104303074, 104303172]] [[104297705, 104297834], [104302484, 104302652], [104302771, 104302919], [104303074, 104303172]]
ENST00000479306 [[104296186, 104296250], [104297679, 104297834], [104302484, 104302652]] [[104297705, 104297834], [104302484, 104302652]]
ENST00000481046 [[104296239, 104296582], [104297679, 104297834], [104302458, 104302561]] None
ENST00000466817 [[104296260, 104296582], [104297679, 104297834], [104302484, 104302652], [104302771, 104302910]] [[104297705, 104297834], [104302484, 104302652], [104302771, 104302910]]
ENST00000478072 [[104322962, 104323208], [104323371, 104323734]] None
NM_019592 [[104296130, 104296196], [104297679, 104297834], [104302484, 104302652], [104302771, 104302919], [104303074, 104303257], [104307048, 104307167], [104309101, 104309248], [104309418, 104309496], [104309680, 104309800], [104312887, 104313067], [104313965, 104314101], [104314422, 104314544], [104314664, 104315035], [104316269, 104316387], [104316975, 104317125], [104319665, 104319878], [104323082, 104323208], [104323371, 104323512], [104324191, 104324293], [104324527, 104325626]] [[104297705, 104297834], [104302484, 104302652], [104302771, 104302919], [104303074, 104303257], [104307048, 104307167], [104309101, 104309248], [104309418, 104309496], [104309680, 104309800], [104312887, 104313067], [104313965, 104314101], [104314422, 104314544], [104314664, 104315035], [104316269, 104316387], [104316975, 104317125], [104319665, 104319878], [104323082, 104323208], [104323371, 104323512], [104324191, 104324293], [104324527, 104324704]]
Promoter
Chrom Start End Description
chr9 104296122 104296161 CAGE_peak_1_at_RNF20_5end
chr9 104296163 104296183 CAGE_peak_2_at_RNF20_5end
chr9 104296214 104296223 CAGE_peak_13_at_RNF20_5end
chr9 104296243 104296258 CAGE_peak_15_at_RNF20_5end
chr9 104314431 104314446 CAGE_peak_4_at_RNF20_5end
chr9 104314486 104314499 CAGE_peak_5_at_RNF20_5end
chr9 104314750 104314770 CAGE_peak_3_at_RNF20_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr9 GH09I101452 101452753 101454568 0.51 [{'connected_gene': 'TMEM246', 'score': 11.08}, {'connected_gene': 'RNF20', 'score': 11.07}, {'connected_gene': 'ZNF189', 'score': 10.81}, {'connected_gene': 'MRPL50', 'score': 10.8}, {'connected_gene': 'ALDOB', 'score': 8.51}, {'connected_gene': 'LOC105376184', 'score': 0.39}, {'connected_gene': 'TMEM246-AS1', 'score': 0.39}]
chr9 GH09I101569 101569397 101570711 0.52 [{'connected_gene': 'TMEM246', 'score': 10.92}, {'connected_gene': 'RNF20', 'score': 10.92}, {'connected_gene': 'PPP3R2', 'score': 10.92}, {'connected_gene': 'PIR43226', 'score': 0.34}, {'connected_gene': 'GRIN3A', 'score': 0.1}]
chr9 GH09I101465 101465201 101466088 0.92 [{'connected_gene': 'TMEM246', 'score': 24.08}, {'connected_gene': 'RNF20', 'score': 11.24}, {'connected_gene': 'TMEM246-AS1', 'score': 0.77}, {'connected_gene': 'LOC105376184', 'score': 0.34}]
chr9 GH09I101459 101459000 101459268 0.92 [{'connected_gene': 'TMEM246', 'score': 12.11}, {'connected_gene': 'RNF20', 'score': 12.11}, {'connected_gene': 'TMEM246-AS1', 'score': 0.44}, {'connected_gene': 'LOC105376184', 'score': 0.37}]
chr9 GH09I101532 101532803 101534837 2 [{'connected_gene': 'TMEM246', 'score': 550.77}, {'connected_gene': 'RNF20', 'score': 550.77}, {'connected_gene': 'TMEM246-AS1', 'score': 6.93}]
chr9 GH09I101482 101482365 101482538 0.2 [{'connected_gene': 'TMEM246', 'score': 10.85}, {'connected_gene': 'RNF20', 'score': 10.85}, {'connected_gene': 'GC09M101474', 'score': 0.44}, {'connected_gene': 'ENSG00000233055', 'score': 0.37}]
chr9 GH09I101485 101485582 101488536 2.19 [{'connected_gene': 'TMEM246', 'score': 559.49}, {'connected_gene': 'TMEM246-AS1', 'score': 7.0}, {'connected_gene': 'RNF20', 'score': 6.09}, {'connected_gene': 'ENSG00000233055', 'score': 0.39}, {'connected_gene': 'GC09M101474', 'score': 0.39}]
chr9 GH09I101478 101478296 101482047 0.56 [{'connected_gene': 'TMEM246', 'score': 42.88}, {'connected_gene': 'TMEM246-AS1', 'score': 16.02}, {'connected_gene': 'RNF20', 'score': 11.57}, {'connected_gene': 'GC09M101474', 'score': 0.44}, {'connected_gene': 'ENSG00000233055', 'score': 0.34}]
chr9 GH09I101430 101430945 101451831 2.43 [{'connected_gene': 'ALDOB', 'score': 558.57}, {'connected_gene': 'LOC105376184', 'score': 550.77}, {'connected_gene': 'ZNF189', 'score': 16.37}, {'connected_gene': 'TMEM246', 'score': 11.36}, {'connected_gene': 'RNF20', 'score': 11.36}, {'connected_gene': 'MRPL50', 'score': 11.18}, {'connected_gene': 'TMEM246-AS1', 'score': 10.91}, {'connected_gene': 'BAAT', 'score': 5.56}]
chr9 GH09I101222 101222731 101222849 0.22 [{'connected_gene': 'LOC105376183', 'score': 550.77}, {'connected_gene': 'PPP3R2', 'score': 7.34}, {'connected_gene': 'PLPPR1', 'score': 2.17}, {'connected_gene': 'RNF20', 'score': 1.22}, {'connected_gene': 'LOC105376182', 'score': 0.37}]
chr9 GH09I101585 101585401 101586400 0.2 [{'connected_gene': 'PIR43226', 'score': 0.44}, {'connected_gene': 'RNF20', 'score': 0.23}, {'connected_gene': 'GRIN3A', 'score': 0.1}]
chr9 GH09I101582 101582699 101582848 0.38 [{'connected_gene': 'PIR43226', 'score': 0.39}, {'connected_gene': 'RNF20', 'score': 0.25}, {'connected_gene': 'GRIN3A', 'score': 0.1}]