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
ENST00000260605 [[44001177, 44001285], [44003920, 44004038], [44010658, 44010693], [44014319, 44014389], [44016771, 44016860], [44021595, 44021782], [44023028, 44023097], [44023856, 44023934], [44027979, 44028056], [44028777, 44028848], [44031780, 44031878], [44032292, 44032385], [44036843, 44037149]] [[44001277, 44001285], [44003920, 44004038], [44010658, 44010693], [44014319, 44014389], [44016771, 44016860], [44021595, 44021782], [44023028, 44023097], [44023856, 44023934], [44027979, 44028056], [44028777, 44028848], [44031780, 44031878], [44032292, 44032385], [44036843, 44036906]]
ENST00000496980 [[44001187, 44001285], [44003920, 44004038], [44008766, 44008903], [44010658, 44010693], [44014319, 44014389], [44016771, 44016860]] [[44001277, 44001285], [44003920, 44004038], [44008766, 44008903], [44010658, 44010680]]
ENST00000406852 [[44001187, 44001285], [44003920, 44004038], [44010658, 44010693], [44014319, 44014389], [44016771, 44016860], [44021595, 44022318]] [[44001277, 44001285], [44003920, 44004038], [44010658, 44010693], [44014319, 44014389], [44016771, 44016860], [44021595, 44021881]]
ENST00000479242 [[44001187, 44001285], [44003920, 44004038], [44010658, 44010693], [44016771, 44016860], [44021595, 44021782], [44023028, 44023069]] [[44001277, 44001285], [44003920, 44004038], [44010658, 44010693], [44016771, 44016829]]
ENST00000443170 [[44001187, 44001285], [44003920, 44004038], [44010658, 44010693], [44016771, 44016860], [44021595, 44021782], [44023028, 44023097], [44023856, 44023934], [44027979, 44028056], [44028777, 44028848], [44031780, 44031878], [44032292, 44032385], [44036843, 44036915]] [[44021653, 44021782], [44023028, 44023097], [44023856, 44023934], [44027979, 44028056], [44028777, 44028848], [44031780, 44031878], [44032292, 44032385], [44036843, 44036906]]
ENST00000398823 [[44001202, 44001285], [44003920, 44004038], [44010658, 44010693], [44014319, 44014389], [44016771, 44016860], [44019814, 44022322]] [[44001277, 44001285], [44003920, 44004038], [44010658, 44010693], [44014319, 44014389], [44016771, 44016860], [44019814, 44019929]]
ENST00000489222 [[44001202, 44001284], [44010658, 44010693], [44014319, 44014389], [44016771, 44016860], [44021595, 44021782], [44023028, 44023097], [44023856, 44023934], [44027979, 44028056]] None
ENST00000605786 [[44001220, 44001285], [44003920, 44004038], [44010658, 44010693], [44014319, 44014389], [44016771, 44016860], [44021595, 44021782], [44023025, 44023097], [44023856, 44023934], [44027979, 44028056], [44028777, 44028848], [44031780, 44031878], [44032292, 44032385], [44036843, 44037136]] [[44001277, 44001285], [44003920, 44004038], [44010658, 44010693], [44014319, 44014389], [44016771, 44016860], [44021595, 44021782], [44023025, 44023097], [44023856, 44023934], [44027979, 44028056], [44028777, 44028848], [44031780, 44031878], [44032292, 44032385], [44036843, 44036906]]
ENST00000462426 [[44001224, 44001285], [44002847, 44002927], [44003920, 44004038], [44010658, 44010693], [44014319, 44014389], [44016771, 44016860], [44021595, 44021782], [44023025, 44023098]] [[44001277, 44001285], [44002847, 44002927], [44003920, 44004038], [44010658, 44010680]]
ENST00000378587 [[44003961, 44004038], [44010658, 44010693], [44014319, 44014389], [44016771, 44016860], [44021595, 44021782], [44023028, 44023097], [44023856, 44023934], [44027979, 44028056], [44028777, 44028848], [44031780, 44031878], [44032292, 44032694]] [[44003961, 44004038], [44010658, 44010693], [44014319, 44014389], [44016771, 44016860], [44021595, 44021782], [44023028, 44023097], [44023856, 44023934], [44027979, 44028056], [44028777, 44028848], [44031780, 44031878], [44032292, 44032397]]
ENST00000482738 [[44028409, 44028848], [44031780, 44031878], [44032292, 44032316]] None
NM_015522 [[44001177, 44001285], [44003920, 44004038], [44010658, 44010693], [44014319, 44014389], [44016771, 44016860], [44021595, 44022318]] [[44001277, 44001285], [44003920, 44004038], [44010658, 44010693], [44014319, 44014389], [44016771, 44016860], [44021595, 44021881]]
NM_016008 [[44001177, 44001285], [44003920, 44004038], [44010658, 44010693], [44014319, 44014389], [44016771, 44016860], [44021595, 44021782], [44023028, 44023097], [44023856, 44023934], [44027979, 44028056], [44028777, 44028848], [44031780, 44031878], [44032292, 44032385], [44036843, 44037149]] [[44001277, 44001285], [44003920, 44004038], [44010658, 44010693], [44014319, 44014389], [44016771, 44016860], [44021595, 44021782], [44023028, 44023097], [44023856, 44023934], [44027979, 44028056], [44028777, 44028848], [44031780, 44031878], [44032292, 44032385], [44036843, 44036906]]
NM_001193464 [[44001177, 44001285], [44003920, 44004038], [44010658, 44010693], [44014319, 44014389], [44016771, 44016860], [44021595, 44021782], [44023025, 44023097], [44023856, 44023934], [44027979, 44028056], [44028777, 44028848], [44031780, 44031878], [44032292, 44032385], [44036843, 44037149]] [[44001277, 44001285], [44003920, 44004038], [44010658, 44010693], [44014319, 44014389], [44016771, 44016860], [44021595, 44021782], [44023025, 44023097], [44023856, 44023934], [44027979, 44028056], [44028777, 44028848], [44031780, 44031878], [44032292, 44032385], [44036843, 44036906]]
Promoter
Chrom Start End Description
chr2 44001172 44001230 CAGE_peak_1_at_DYNC2LI1_5end
chr2 44001231 44001242 CAGE_peak_2_at_DYNC2LI1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I043805 43805764 43809768 1.11 [{'connected_gene': 'ABCG5', 'score': 17.24}, {'connected_gene': 'ABCG8', 'score': 11.56}, {'connected_gene': 'DYNC2LI1', 'score': 11.32}, {'connected_gene': 'RN7SKP66', 'score': 11.3}, {'connected_gene': 'PLEKHH2', 'score': 7.74}, {'connected_gene': 'LOC105374571', 'score': 0.29}]
chr2 GH02I043818 43818122 43820533 0.85 [{'connected_gene': 'DYNC2LI1', 'score': 8.01}, {'connected_gene': 'ABCG8', 'score': 0.44}, {'connected_gene': 'ABCG5', 'score': 0.37}, {'connected_gene': 'LOC105374571', 'score': 0.25}]
chr2 GH02I043104 43104602 43111363 1.48 [{'connected_gene': 'DYNC2LI1', 'score': 9.92}, {'connected_gene': 'OXER1', 'score': 5.9}, {'connected_gene': 'THADA', 'score': 4.65}, {'connected_gene': 'LOC105374570', 'score': 0.37}, {'connected_gene': 'GC02M043092', 'score': 0.37}, {'connected_gene': 'RNU6-242P', 'score': 0.37}, {'connected_gene': 'LINC02580', 'score': 0.23}, {'connected_gene': 'GC02P042660', 'score': 0.05}]
chr2 GH02I043736 43736393 43738570 0.57 [{'connected_gene': 'DYNC2LI1', 'score': 16.9}, {'connected_gene': 'PLEKHH2', 'score': 15.85}, {'connected_gene': 'RN7SKP66', 'score': 11.08}, {'connected_gene': 'LOC100421122', 'score': 0.22}]
chr2 GH02I043773 43773442 43775104 2.02 [{'connected_gene': 'DYNC2LI1', 'score': 560.46}, {'connected_gene': 'RN7SKP66', 'score': 550.77}, {'connected_gene': 'LOC105374571', 'score': 550.77}, {'connected_gene': 'PLEKHH2', 'score': 7.61}, {'connected_gene': 'ABCG8', 'score': 0.23}]
chr2 GH02I043758 43758214 43760209 0.77 [{'connected_gene': 'PLEKHH2', 'score': 10.24}, {'connected_gene': 'DYNC2LI1', 'score': 5.44}, {'connected_gene': 'RN7SKP66', 'score': 0.39}, {'connected_gene': 'LOC100421122', 'score': 0.18}]
chr2 GH02I043724 43724802 43726112 0.96 [{'connected_gene': 'PLEKHH2', 'score': 18.48}, {'connected_gene': 'DYNC2LI1', 'score': 5.61}, {'connected_gene': 'LOC100421122', 'score': 0.26}, {'connected_gene': 'RN7SKP66', 'score': 0.25}]
chr2 GH02I043715 43715271 43715555 0.51 [{'connected_gene': 'PLEKHH2', 'score': 28.64}, {'connected_gene': 'RN7SKP66', 'score': 10.52}, {'connected_gene': 'DYNC2LI1', 'score': 10.52}, {'connected_gene': 'LOC100421122', 'score': 0.29}]
chr2 GH02I043706 43706783 43708137 0.6 [{'connected_gene': 'PLEKHH2', 'score': 10.75}, {'connected_gene': 'RN7SKP66', 'score': 10.35}, {'connected_gene': 'DYNC2LI1', 'score': 10.35}, {'connected_gene': 'LOC100421122', 'score': 0.31}]
chr2 GH02I043048 43048816 43052940 1.47 [{'connected_gene': 'RNU6-1048P', 'score': 14.39}, {'connected_gene': 'PLEKHH2', 'score': 12.58}, {'connected_gene': 'THADA', 'score': 10.89}, {'connected_gene': 'DYNC2LI1', 'score': 9.91}, {'connected_gene': 'ENSG00000233978', 'score': 0.44}, {'connected_gene': 'PIR48377', 'score': 0.39}, {'connected_gene': 'GC02P042853', 'score': 0.08}, {'connected_gene': 'GC02P042660', 'score': 0.05}]
chr2 GH02I043209 43209975 43211970 1.72 [{'connected_gene': 'RNU6-1048P', 'score': 41.41}, {'connected_gene': 'PLEKHH2', 'score': 38.21}, {'connected_gene': 'THADA', 'score': 25.82}, {'connected_gene': 'OXER1', 'score': 13.08}, {'connected_gene': 'DYNC2LI1', 'score': 12.22}, {'connected_gene': 'ZFP36L2', 'score': 11.09}, {'connected_gene': 'C1GALT1C1L', 'score': 9.7}, {'connected_gene': 'LINC02580', 'score': 0.23}, {'connected_gene': 'GC02P042660', 'score': 0.03}]
chr2 GH02I043844 43844018 43845375 0.64 [{'connected_gene': 'LOC102725159', 'score': 550.77}, {'connected_gene': 'DYNC2LI1', 'score': 20.28}, {'connected_gene': 'RN7SKP66', 'score': 10.2}, {'connected_gene': 'ABCG5', 'score': 4.85}, {'connected_gene': 'ABCG8', 'score': 0.37}, {'connected_gene': 'GC02P043893', 'score': 0.25}]
chr2 GH02I043454 43454509 43462575 1.35 [{'connected_gene': 'ENSG00000234936', 'score': 16.45}, {'connected_gene': 'ZFP36L2', 'score': 11.63}, {'connected_gene': 'RNU6-958P', 'score': 10.99}, {'connected_gene': 'DYNC2LI1', 'score': 5.3}, {'connected_gene': 'PLEKHH2', 'score': 5.09}, {'connected_gene': 'THADA', 'score': 5.0}, {'connected_gene': 'RN7SL531P', 'score': 0.29}]
chr2 GH02I043396 43396928 43400799 0.99 [{'connected_gene': 'ENSG00000234936', 'score': 6.64}, {'connected_gene': 'DYNC2LI1', 'score': 4.74}, {'connected_gene': 'RNU6-958P', 'score': 0.44}, {'connected_gene': 'THADA', 'score': 0.08}, {'connected_gene': 'GC02P042660', 'score': 0.03}]