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
ENST00000506087 [[165999571, 166000948], [166006737, 166006840], [166009619, 166009754], [166021779, 166022044], [166024101, 166024248], [166103693, 166103780], [166129590, 166129701]] [[166000809, 166000948], [166006737, 166006840], [166009619, 166009754], [166021779, 166022044], [166024101, 166024248], [166103693, 166103708]]
ENST00000306480 [[165995573, 166000948], [166006737, 166006840], [166009619, 166009754], [166021779, 166022044], [166024101, 166024248], [166033898, 166034071]] [[166000809, 166000948], [166006737, 166006840], [166009619, 166009754], [166021779, 166022044], [166024101, 166024248], [166033898, 166033925]]
ENST00000505095 [[166006737, 166006840], [166009619, 166009754], [166021779, 166022044], [166024101, 166024248], [166032800, 166032831], [166033898, 166034006]] [[166006737, 166006840], [166009619, 166009754], [166021779, 166021795]]
NM_001100389 [[165997229, 166000948], [166006737, 166006840], [166009619, 166009754], [166021779, 166022044], [166024101, 166024248], [166033898, 166034024]] [[166000809, 166000948], [166006737, 166006840], [166009619, 166009754], [166021779, 166022044], [166024101, 166024248], [166033898, 166033925]]
Promoter
Chrom Start End Description
chr4 166033973 166033999 CAGE_peak_2_at_TMEM192_5end
chr4 166034004 166034026 CAGE_peak_1_at_TMEM192_5end
chr4 166034029 166034045 CAGE_peak_3_at_TMEM192_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I165323 165323078 165331128 2.49 [{'connected_gene': 'MSMO1', 'score': 550.77}, {'connected_gene': 'KLHL2', 'score': 39.23}, {'connected_gene': 'TMEM192', 'score': 10.87}, {'connected_gene': 'NACA3P', 'score': 10.44}, {'connected_gene': 'CPE', 'score': 5.18}, {'connected_gene': 'GC04M165293', 'score': 0.29}]
chr4 GH04I165111 165111800 165114141 2.02 [{'connected_gene': 'TMEM192', 'score': 567.85}, {'connected_gene': 'KLHL2', 'score': 16.25}, {'connected_gene': 'TLL1', 'score': 10.57}, {'connected_gene': 'TRIM75P', 'score': 0.23}]
chr4 GH04I165257 165257201 165257600 0.2 [{'connected_gene': 'TMEM192', 'score': 12.36}, {'connected_gene': 'KLHL2', 'score': 12.36}, {'connected_gene': 'MSMO1', 'score': 11.36}, {'connected_gene': 'RNU4-87P', 'score': 0.77}, {'connected_gene': 'GK3P', 'score': 0.34}]
chr4 GH04I165206 165206353 165208801 1.86 [{'connected_gene': 'TMEM192', 'score': 550.77}, {'connected_gene': 'KLHL2', 'score': 550.77}, {'connected_gene': 'TRIM75P', 'score': 0.11}]
chr4 GH04I165203 165203801 165204837 0.59 [{'connected_gene': 'TMEM192', 'score': 0.77}, {'connected_gene': 'KLHL2', 'score': 0.77}, {'connected_gene': 'TRIM75P', 'score': 0.11}]
chr4 GH04I165209 165209832 165209891 0.5 [{'connected_gene': 'TMEM192', 'score': 550.77}, {'connected_gene': 'KLHL2', 'score': 550.77}, {'connected_gene': 'GC04P165222', 'score': 0.39}]
chr4 GH04I165210 165210001 165210200 0.2 [{'connected_gene': 'TMEM192', 'score': 550.77}, {'connected_gene': 'KLHL2', 'score': 0.77}, {'connected_gene': 'GC04P165222', 'score': 0.39}]
chr4 GH04I165214 165214402 165216399 0.83 [{'connected_gene': 'KLHL2', 'score': 38.89}, {'connected_gene': 'MSMO1', 'score': 10.83}, {'connected_gene': 'TMEM192', 'score': 0.44}, {'connected_gene': 'GC04P165222', 'score': 0.44}]
chr4 GH04I165132 165132983 165133862 0.4 [{'connected_gene': 'KLHL2', 'score': 11.92}, {'connected_gene': 'TMEM192', 'score': 11.91}, {'connected_gene': 'MSMO1', 'score': 10.57}, {'connected_gene': 'TRIM75P', 'score': 0.19}]
chr4 GH04I165255 165255001 165256782 0.89 [{'connected_gene': 'KLHL2', 'score': 49.41}, {'connected_gene': 'TMEM192', 'score': 12.36}, {'connected_gene': 'MSMO1', 'score': 11.36}, {'connected_gene': 'RNU4-87P', 'score': 0.77}, {'connected_gene': 'GK3P', 'score': 0.34}]
chr4 GH04I165211 165210539 165210598 0.73 [{'connected_gene': 'KLHL2', 'score': 550.77}, {'connected_gene': 'TMEM192', 'score': 0.77}, {'connected_gene': 'GC04P165222', 'score': 0.39}]