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
ENST00000274747 [[24403152, 24403464], [24405395, 24405469], [24408635, 24408672], [24412449, 24412623], [24415260, 24415391], [24416624, 24416741], [24418311, 24418464], [24418688, 24418806], [24423164, 24423278], [24423811, 24425809]] [[24403274, 24403464], [24405395, 24405469], [24408635, 24408672], [24412449, 24412502]]
ENST00000543597 [[24403158, 24403464], [24408635, 24408672], [24409688, 24409801], [24412449, 24412623], [24415243, 24415391], [24416624, 24416741], [24418311, 24418464], [24418688, 24418806], [24423164, 24423278], [24423811, 24424122]] [[24418348, 24418464], [24418688, 24418806], [24423164, 24423278], [24423811, 24423922]]
ENST00000535061 [[24403163, 24403464], [24405395, 24405469], [24412449, 24412623], [24415260, 24415391], [24416624, 24416741], [24418311, 24418464], [24418688, 24418806], [24423164, 24423278], [24423811, 24424251]] [[24403274, 24403464], [24405395, 24405469], [24412449, 24412623], [24415260, 24415391], [24416624, 24416741], [24418311, 24418464], [24418688, 24418806], [24423164, 24423278], [24423811, 24423922]]
ENST00000483634 [[24403181, 24403464], [24405395, 24405469], [24408635, 24408672], [24412449, 24412623], [24415260, 24415391], [24416624, 24416741], [24418311, 24418464], [24418688, 24419469]] None
ENST00000378353 [[24403181, 24403464], [24405395, 24405469], [24408635, 24408672], [24409688, 24409801], [24412449, 24412623], [24415260, 24415391], [24416624, 24416741], [24418311, 24418464], [24418688, 24418806], [24423164, 24423704]] [[24403274, 24403464], [24405395, 24405469], [24408635, 24408672], [24409688, 24409801], [24412449, 24412623], [24415260, 24415391], [24416624, 24416741], [24418311, 24418464], [24418688, 24418806], [24423164, 24423284]]
ENST00000378386 [[24403181, 24403464], [24405395, 24405469], [24408635, 24408672], [24409688, 24409801], [24412449, 24412623], [24415260, 24415391], [24416624, 24416741], [24418311, 24418464], [24418688, 24418806], [24423164, 24423278], [24423811, 24425810]] [[24403274, 24403464], [24405395, 24405469], [24408635, 24408672], [24409688, 24409801], [24412449, 24412623], [24415260, 24415391], [24416624, 24416741], [24418311, 24418464], [24418688, 24418806], [24423164, 24423278], [24423811, 24423922]]
ENST00000443868 [[24403186, 24403464], [24405395, 24405469], [24408635, 24408672], [24409688, 24409801], [24410954, 24411027], [24412513, 24412623], [24415260, 24415391], [24416624, 24416741], [24418311, 24418464], [24418688, 24418806], [24423164, 24423278], [24423811, 24424067]] [[24403274, 24403464], [24405395, 24405469], [24408635, 24408672], [24409688, 24409801], [24410954, 24411027], [24412513, 24412623], [24415260, 24415391], [24416624, 24416741], [24418311, 24418464], [24418688, 24418806], [24423164, 24423278], [24423811, 24423922]]
ENST00000446191 [[24403419, 24403464], [24405395, 24405469], [24408635, 24408672], [24409688, 24409721], [24416638, 24416741], [24418311, 24418464], [24418688, 24418789]] [[24403419, 24403464], [24405395, 24405469], [24408635, 24408672], [24409688, 24409721], [24416638, 24416741], [24418311, 24418464], [24418688, 24418789]]
NM_001286265 [[24403135, 24403464], [24405395, 24405469], [24408635, 24408672], [24409688, 24409801], [24412449, 24412623], [24415260, 24415391], [24416624, 24416741], [24418311, 24418464], [24418688, 24418806], [24423164, 24423707]] [[24403274, 24403464], [24405395, 24405469], [24408635, 24408672], [24409688, 24409801], [24412449, 24412623], [24415260, 24415391], [24416624, 24416741], [24418311, 24418464], [24418688, 24418806], [24423164, 24423284]]
NR_104423 [[24403135, 24403464], [24408635, 24408672], [24409688, 24409801], [24412449, 24412623], [24415243, 24415391], [24416624, 24416741], [24418311, 24418464], [24418688, 24418806], [24423164, 24423278], [24423811, 24426422]] None
NM_001286266 [[24403135, 24403464], [24405395, 24405469], [24412449, 24412623], [24415260, 24415391], [24416624, 24416741], [24418311, 24418464], [24418688, 24418806], [24423164, 24423278], [24423811, 24426422]] [[24403274, 24403464], [24405395, 24405469], [24412449, 24412623], [24415260, 24415391], [24416624, 24416741], [24418311, 24418464], [24418688, 24418806], [24423164, 24423278], [24423811, 24423922]]
NM_020662 [[24403135, 24403464], [24405395, 24405469], [24408635, 24408672], [24409688, 24409801], [24412449, 24412623], [24415260, 24415391], [24416624, 24416741], [24418311, 24418464], [24418688, 24418806], [24423164, 24423278], [24423811, 24426422]] [[24403274, 24403464], [24405395, 24405469], [24408635, 24408672], [24409688, 24409801], [24412449, 24412623], [24415260, 24415391], [24416624, 24416741], [24418311, 24418464], [24418688, 24418806], [24423164, 24423278], [24423811, 24423922]]
NM_001286264 [[24403135, 24403464], [24405395, 24405469], [24408635, 24408672], [24409688, 24409801], [24410954, 24411027], [24412513, 24412623], [24415260, 24415391], [24416624, 24416741], [24418311, 24418464], [24418688, 24418806], [24423164, 24423278], [24423811, 24426422]] [[24403274, 24403464], [24405395, 24405469], [24408635, 24408672], [24409688, 24409801], [24410954, 24411027], [24412513, 24412623], [24415260, 24415391], [24416624, 24416741], [24418311, 24418464], [24418688, 24418806], [24423164, 24423278], [24423811, 24423922]]
Promoter
Chrom Start End Description
chr6 24403144 24403224 CAGE_peak_1_at_MRS2_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I024399 24399304 24404562 2.26 [{'connected_gene': 'MRS2', 'score': 588.36}, {'connected_gene': 'PIR56278', 'score': 550.77}, {'connected_gene': 'ALDH5A1', 'score': 13.95}, {'connected_gene': 'DCDC2', 'score': 0.37}]
chr6 GH06I024385 24385397 24386213 1.11 [{'connected_gene': 'MRS2', 'score': 5.85}, {'connected_gene': 'DCDC2', 'score': 0.77}]
chr6 GH06I024431 24431133 24431262 0.65 [{'connected_gene': 'MRS2', 'score': 33.46}, {'connected_gene': 'PIR53932', 'score': 0.44}, {'connected_gene': 'GPLD1', 'score': 0.21}, {'connected_gene': 'ALDH5A1', 'score': 0.21}]
chr6 GH06I024427 24427936 24429354 0.84 [{'connected_gene': 'MRS2', 'score': 47.61}, {'connected_gene': 'RNU6-391P', 'score': 10.08}, {'connected_gene': 'PIR53932', 'score': 0.44}, {'connected_gene': 'GPLD1', 'score': 0.2}, {'connected_gene': 'ALDH5A1', 'score': 0.2}]
chr6 GH06I024405 24405201 24405462 0.58 [{'connected_gene': 'MRS2', 'score': 0.77}, {'connected_gene': 'PIR56278', 'score': 0.77}, {'connected_gene': 'PIR53932', 'score': 0.37}]
chr6 GH06I024382 24382062 24384050 1 [{'connected_gene': 'DCDC2', 'score': 550.77}, {'connected_gene': 'MRS2', 'score': 5.92}, {'connected_gene': 'RNU6-391P', 'score': 0.37}]
chr6 GH06I024321 24321514 24324833 1.09 [{'connected_gene': 'DCDC2', 'score': 12.68}, {'connected_gene': 'RNU6-391P', 'score': 11.05}, {'connected_gene': 'MRS2', 'score': 5.56}, {'connected_gene': 'KAAG1', 'score': 5.38}, {'connected_gene': 'ENSG00000251830', 'score': 0.1}]
chr6 GH06I024394 24394624 24395749 0.88 [{'connected_gene': 'RNU6-391P', 'score': 11.35}, {'connected_gene': 'MRS2', 'score': 0.44}, {'connected_gene': 'DCDC2', 'score': 0.39}]
chr6 GH06I024389 24389393 24389522 0.74 [{'connected_gene': 'RNU6-391P', 'score': 12.06}, {'connected_gene': 'DCDC2', 'score': 0.44}, {'connected_gene': 'MRS2', 'score': 0.39}]
chr6 GH06I024359 24359588 24360960 1.18 [{'connected_gene': 'GC06P024361', 'score': 550.77}, {'connected_gene': 'MRS2', 'score': 14.54}, {'connected_gene': 'KAAG1', 'score': 0.77}, {'connected_gene': 'DCDC2', 'score': 0.34}]