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
ENST00000426342 [[47308825, 47311222], [47314968, 47315074], [47324226, 47324357], [47342635, 47342794], [47343247, 47343403], [47346691, 47346712], [47351246, 47351424], [47389214, 47389363], [47426576, 47426846], [47504213, 47504507], [47530451, 47530781], [47566056, 47566326], [47600916, 47601049], [47613280, 47613477], [47687223, 47687393], [47770613, 47770753], [47812300, 47812438]] [[47311133, 47311222], [47314968, 47315074], [47324226, 47324357], [47342635, 47342794], [47343247, 47343403], [47346691, 47346712], [47351246, 47351424], [47389214, 47389363], [47426576, 47426846], [47504213, 47504507], [47530451, 47530781], [47566056, 47566326], [47600916, 47600947]]
ENST00000399232 [[47309294, 47311222], [47314968, 47315074], [47324226, 47324357], [47342635, 47342794], [47343247, 47343403], [47346691, 47346712], [47351246, 47351424], [47389214, 47389363], [47426576, 47426846], [47504213, 47504507], [47530451, 47530781], [47566056, 47566326], [47600916, 47601049], [47613280, 47613477], [47687223, 47687398], [47770613, 47770753], [48143719, 48144157]] [[47311133, 47311222], [47314968, 47315074], [47324226, 47324357], [47342635, 47342794], [47343247, 47343403], [47346691, 47346712], [47351246, 47351424], [47389214, 47389363], [47426576, 47426846], [47504213, 47504507], [47530451, 47530781], [47566056, 47566326], [47600916, 47601049], [47613280, 47613477], [47687223, 47687398], [47770613, 47770753], [48143719, 48143792]]
ENST00000399222 [[47309503, 47311222], [47314968, 47315074], [47324226, 47324357], [47342635, 47342794], [47343247, 47343403], [47351246, 47351391]] [[47311133, 47311222], [47314968, 47315074], [47324226, 47324357], [47342635, 47342786]]
ENST00000357362 [[47310987, 47311222], [47314968, 47315074], [47324226, 47324357], [47342635, 47342794], [47343247, 47343403], [47346691, 47346712], [47351246, 47351424], [47389214, 47389363], [47426576, 47426846], [47504213, 47504507], [47530451, 47530781], [47566056, 47566326], [47600916, 47601049], [47613280, 47613477], [47687223, 47687398], [47770613, 47770753], [47812300, 47812321]] [[47311133, 47311222], [47314968, 47315074], [47324226, 47324357], [47342635, 47342794], [47343247, 47343403], [47346691, 47346712], [47351246, 47351424], [47389214, 47389363], [47426576, 47426846], [47504213, 47504507], [47530451, 47530781], [47566056, 47566326], [47600916, 47600947]]
ENST00000557238 [[47340140, 47341163], [47342635, 47342794], [47343247, 47343403], [47351246, 47351424], [47389214, 47389363], [47426576, 47426846], [47504213, 47504481], [47530451, 47530781], [47566056, 47566326], [47600916, 47601049], [47613280, 47613477], [47687223, 47687398], [47770613, 47770753], [48095541, 48095728]] [[47504410, 47504481], [47530451, 47530781], [47566056, 47566326], [47600916, 47600947]]
ENST00000554762 [[47504391, 47504507], [47530451, 47530781], [47566056, 47566242], [47600916, 47601041]] [[47504391, 47504507], [47530451, 47530781], [47566056, 47566242], [47600916, 47601041]]
ENST00000482848 [[47527802, 47528199], [47528397, 47528583], [47530451, 47530781], [47566056, 47566326], [47600916, 47601049], [47613280, 47613477], [47687223, 47687393], [47770613, 47770753], [47812300, 47812395]] [[47528461, 47528583], [47530451, 47530781], [47566056, 47566326], [47600916, 47600947]]
ENST00000486952 [[47687257, 47687398], [47770613, 47770753], [47812144, 47812437]] [[47687257, 47687398], [47770613, 47770753], [47812144, 47812289]]
ENST00000557516 [[47342536, 47342794], [47343247, 47343403], [47351246, 47351425]] None
ENST00000555521 [[47343121, 47343403], [47346691, 47346712], [47351246, 47351424], [47389214, 47389377]] None
ENST00000472499 [[47768549, 47768742], [47770613, 47770753], [47774433, 47774526], [47775279, 47775345], [47812300, 47812319]] None
NM_182830 [[47308825, 47311222], [47314968, 47315074], [47324226, 47324357], [47342635, 47342794], [47343247, 47343403], [47346691, 47346712], [47351246, 47351424], [47389214, 47389363], [47426576, 47426846], [47504213, 47504507], [47530451, 47530781], [47566056, 47566326], [47600916, 47601049], [47613280, 47613477], [47687223, 47687393], [47770613, 47770753], [47812300, 47812449]] [[47311133, 47311222], [47314968, 47315074], [47324226, 47324357], [47342635, 47342794], [47343247, 47343403], [47346691, 47346712], [47351246, 47351424], [47389214, 47389363], [47426576, 47426846], [47504213, 47504507], [47530451, 47530781], [47566056, 47566326], [47600916, 47600947]]
NM_001113498 [[47308825, 47311222], [47314968, 47315074], [47324226, 47324357], [47342635, 47342794], [47343247, 47343403], [47346691, 47346712], [47351246, 47351424], [47389214, 47389363], [47426576, 47426846], [47504213, 47504507], [47530451, 47530781], [47566056, 47566326], [47600916, 47601049], [47613280, 47613477], [47687223, 47687398], [47770613, 47770753], [48143719, 48144157]] [[47311133, 47311222], [47314968, 47315074], [47324226, 47324357], [47342635, 47342794], [47343247, 47343403], [47346691, 47346712], [47351246, 47351424], [47389214, 47389363], [47426576, 47426846], [47504213, 47504507], [47530451, 47530781], [47566056, 47566326], [47600916, 47601049], [47613280, 47613477], [47687223, 47687398], [47770613, 47770753], [48143719, 48143792]]
NR_103766 [[47527819, 47528199], [47528397, 47528583], [47530451, 47530781], [47566056, 47566326], [47600916, 47601049], [47613280, 47613477], [47687223, 47687393], [47770613, 47770753], [47812300, 47812449]] None
Promoter
Chrom Start End Description
chr14 48095757 48095782 CAGE_peak_3_at_MDGA2_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr14 GH14I047201 47201110 47201169 0.5 [{'connected_gene': 'RPL13AP2', 'score': 550.77}, {'connected_gene': 'PIR39237', 'score': 550.77}, {'connected_gene': 'GC14M047201', 'score': 550.77}, {'connected_gene': 'MDGA2', 'score': 550.04}, {'connected_gene': 'GC14P047225', 'score': 0.34}]
chr14 GH14I047560 47560797 47561190 0.28 [{'connected_gene': 'MDGA2', 'score': 9.08}, {'connected_gene': 'GC14P047591', 'score': 0.29}, {'connected_gene': 'GC14P047492', 'score': 0.2}]
chr14 GH14I047616 47616858 47616902 0.22 [{'connected_gene': 'MDGA2', 'score': 1.7}, {'connected_gene': 'GC14M047600', 'score': 0.39}, {'connected_gene': 'GC14P047635', 'score': 0.37}]
chr14 GH14I047675 47674765 47676503 1.12 [{'connected_gene': 'MDGA2', 'score': 550.77}, {'connected_gene': 'GC14P047693', 'score': 0.37}]
chr14 GH14I047640 47640536 47640911 0.25 [{'connected_gene': 'MDGA2', 'score': 3.61}, {'connected_gene': 'GC14P047635', 'score': 0.44}]
chr14 GH14I047674 47674258 47674407 0.31 [{'connected_gene': 'MDGA2', 'score': 550.77}, {'connected_gene': 'GC14P047635', 'score': 0.28}]
chr14 GH14I047057 47057197 47057517 0.23 [{'connected_gene': 'GC14P047061', 'score': 0.77}, {'connected_gene': 'GC14M047039', 'score': 0.37}, {'connected_gene': 'MDGA2', 'score': 0.03}]
chr14 GH14I047438 47438277 47439587 0.2 [{'connected_gene': 'GC14P047443', 'score': 0.77}, {'connected_gene': 'GC14P047421', 'score': 0.37}, {'connected_gene': 'MDGA2', 'score': 0.07}]
chr14 GH14I047044 47044938 47045087 0.49 [{'connected_gene': 'GC14M047039', 'score': 0.77}, {'connected_gene': 'GC14P047061', 'score': 0.37}, {'connected_gene': 'MDGA2', 'score': 0.03}]
chr14 GH14I047389 47389698 47389767 0.31 [{'connected_gene': 'GC14P047408', 'score': 0.37}, {'connected_gene': 'GC14M047301', 'score': 0.17}, {'connected_gene': 'MDGA2', 'score': 0.06}]
chr14 GH14I047107 47107601 47107800 0.2 [{'connected_gene': 'GC14P047112', 'score': 0.44}, {'connected_gene': 'GC14M047083', 'score': 0.34}, {'connected_gene': 'MDGA2', 'score': 0.03}]
chr14 GH14I047442 47442378 47442487 0.49 [{'connected_gene': 'GC14P047443', 'score': 550.77}, {'connected_gene': 'GC14P047421', 'score': 0.34}, {'connected_gene': 'MDGA2', 'score': 0.07}]
chr14 GH14I046841 46841458 46841607 0.38 [{'connected_gene': 'GC14P046839', 'score': 550.77}, {'connected_gene': 'GC14P046961', 'score': 0.13}, {'connected_gene': 'MDGA2', 'score': 0.03}]
chr14 GH14I047103 47103600 47104254 0.2 [{'connected_gene': 'GC14P047112', 'score': 0.44}, {'connected_gene': 'GC14M047083', 'score': 0.37}, {'connected_gene': 'MDGA2', 'score': 0.03}]
chr14 GH14I047365 47365980 47366327 0.2 [{'connected_gene': 'GC14P047408', 'score': 0.26}, {'connected_gene': 'GC14M047301', 'score': 0.2}, {'connected_gene': 'MDGA2', 'score': 0.06}]
chr14 GH14I047226 47226362 47228238 0.78 [{'connected_gene': 'GC14P047225', 'score': 0.77}, {'connected_gene': 'GC14M047233', 'score': 0.44}, {'connected_gene': 'GC14M047234', 'score': 0.44}, {'connected_gene': 'MDGA2', 'score': 0.05}]