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
ENST00000521425 [[71485676, 71487240], [71495398, 71495559], [71495884, 71496028], [71499129, 71499234], [71499340, 71499411], [71506740, 71506825], [71508497, 71508556], [71510129, 71510246], [71510368, 71510490], [71512253, 71512317], [71519111, 71520013]] [[71487166, 71487240], [71495398, 71495559], [71495884, 71496028], [71499129, 71499234], [71499340, 71499411], [71506740, 71506825], [71508497, 71508556], [71510129, 71510246], [71510368, 71510419]]
ENST00000262213 [[71485676, 71487240], [71495398, 71495559], [71495884, 71496028], [71499129, 71499234], [71499340, 71499411], [71506740, 71506825], [71508497, 71508556], [71510129, 71510246], [71510368, 71510490], [71512253, 71512317], [71520311, 71520604]] [[71487166, 71487240], [71495398, 71495559], [71495884, 71496028], [71499129, 71499234], [71499340, 71499411], [71506740, 71506825], [71508497, 71508556], [71510129, 71510246], [71510368, 71510490], [71512253, 71512317], [71520311, 71520434]]
ENST00000536748 [[71487086, 71487240], [71495398, 71495559], [71495884, 71496028], [71499129, 71499234], [71499340, 71499411], [71506740, 71506825], [71508497, 71508556], [71510129, 71510246], [71510368, 71510490], [71512253, 71512317], [71520311, 71520371], [71520454, 71520608]] [[71487166, 71487240], [71495398, 71495559], [71495884, 71496028], [71499129, 71499234], [71499340, 71499411], [71506740, 71506825], [71508497, 71508556], [71510129, 71510246], [71510368, 71510490], [71512253, 71512317], [71520311, 71520341]]
ENST00000521049 [[71495940, 71496028], [71499129, 71499234], [71499340, 71499411], [71499751, 71499915], [71510129, 71510246], [71512253, 71512317], [71520311, 71520574]] None
ENST00000520700 [[71506735, 71506825], [71508497, 71508556], [71510129, 71510246], [71510368, 71510490], [71512253, 71512317], [71520497, 71520587]] None
ENST00000518678 [[71510125, 71510246], [71510368, 71510490], [71512253, 71512317], [71520311, 71520371], [71520454, 71520622]] [[71510125, 71510246], [71510368, 71510490], [71512253, 71512317], [71520311, 71520341]]
NM_001317805 [[71485452, 71487240], [71495398, 71495559], [71495884, 71496028], [71499129, 71499234], [71499340, 71499411], [71506740, 71506825], [71508497, 71508556], [71510129, 71510246], [71510368, 71510490], [71512253, 71512317], [71519111, 71519926]] [[71487166, 71487240], [71495398, 71495559], [71495884, 71496028], [71499129, 71499234], [71499340, 71499411], [71506740, 71506825], [71508497, 71508556], [71510129, 71510246], [71510368, 71510419]]
NM_014294 [[71485452, 71487240], [71495398, 71495559], [71495884, 71496028], [71499129, 71499234], [71499340, 71499411], [71506740, 71506825], [71508497, 71508556], [71510129, 71510246], [71510368, 71510490], [71512253, 71512317], [71520311, 71520694]] [[71487166, 71487240], [71495398, 71495559], [71495884, 71496028], [71499129, 71499234], [71499340, 71499411], [71506740, 71506825], [71508497, 71508556], [71510129, 71510246], [71510368, 71510490], [71512253, 71512317], [71520311, 71520434]]
NM_001317804 [[71485452, 71487240], [71495398, 71495559], [71495884, 71496028], [71499129, 71499234], [71499340, 71499411], [71506740, 71506825], [71508497, 71508556], [71510129, 71510246], [71510368, 71510490], [71512253, 71512317], [71520311, 71520371], [71520454, 71520694]] [[71487166, 71487240], [71495398, 71495559], [71495884, 71496028], [71499129, 71499234], [71499340, 71499411], [71506740, 71506825], [71508497, 71508556], [71510129, 71510246], [71510368, 71510490], [71512253, 71512317], [71520311, 71520341]]
Promoter
Chrom Start End Description
chr8 71486726 71486739 CAGE_peak_18_at_TRAM1_5end
chr8 71519867 71519888 CAGE_peak_7_at_TRAM1_5end
chr8 71519889 71519918 CAGE_peak_5_at_TRAM1_5end
chr8 71520450 71520484 CAGE_peak_3_at_TRAM1_5end
chr8 71520485 71520511 CAGE_peak_4_at_TRAM1_5end
chr8 71520513 71520614 CAGE_peak_1_at_TRAM1_5end
chr8 71520642 71520658 CAGE_peak_2_at_TRAM1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr8 GH08I070147 70147586 70149314 1.33 [{'connected_gene': 'LACTB2', 'score': 11.17}, {'connected_gene': 'XKR9', 'score': 11.17}, {'connected_gene': 'TRAM1', 'score': 10.75}, {'connected_gene': 'LACTB2-AS1', 'score': 10.75}, {'connected_gene': 'H2AFZP2', 'score': 0.26}, {'connected_gene': 'BTF3P12', 'score': 0.13}, {'connected_gene': 'NCOA2', 'score': 0.07}]
chr8 GH08I070592 70592486 70592635 0.74 [{'connected_gene': 'LACTB2', 'score': 10.62}, {'connected_gene': 'XKR9', 'score': 10.62}, {'connected_gene': 'TRAM1', 'score': 0.37}, {'connected_gene': 'LOC105375890', 'score': 0.22}, {'connected_gene': 'GC08P070527', 'score': 0.2}]
chr8 GH08I070547 70547530 70547564 0.22 [{'connected_gene': 'LACTB2', 'score': 10.96}, {'connected_gene': 'XKR9', 'score': 10.96}, {'connected_gene': 'LOC105375890', 'score': 0.39}, {'connected_gene': 'GC08P070527', 'score': 0.34}, {'connected_gene': 'TRAM1', 'score': 0.21}]
chr8 GH08I070641 70641366 70642664 0.49 [{'connected_gene': 'XKR9', 'score': 18.98}, {'connected_gene': 'LACTB2', 'score': 11.4}, {'connected_gene': 'TRAM1', 'score': 11.39}, {'connected_gene': 'LACTB2-AS1', 'score': 11.39}, {'connected_gene': 'RN7SL19P', 'score': 0.39}]
chr8 GH08I070665 70665434 70670634 2.27 [{'connected_gene': 'XKR9', 'score': 621.48}, {'connected_gene': 'LACTB2', 'score': 557.91}, {'connected_gene': 'TRAM1', 'score': 10.75}, {'connected_gene': 'LACTB2-AS1', 'score': 10.75}, {'connected_gene': 'RN7SL19P', 'score': 0.39}]
chr8 GH08I070564 70564711 70565656 0.38 [{'connected_gene': 'XKR9', 'score': 12.24}, {'connected_gene': 'LACTB2', 'score': 6.4}, {'connected_gene': 'LOC105375890', 'score': 0.31}, {'connected_gene': 'GC08P070527', 'score': 0.28}, {'connected_gene': 'TRAM1', 'score': 0.26}]
chr8 GH08I070558 70558686 70559868 0.52 [{'connected_gene': 'XKR9', 'score': 56.9}, {'connected_gene': 'LACTB2', 'score': 16.61}, {'connected_gene': 'LOC105375890', 'score': 0.34}, {'connected_gene': 'GC08P070527', 'score': 0.29}, {'connected_gene': 'TRAM1', 'score': 0.25}]
chr8 GH08I070556 70556947 70558319 0.86 [{'connected_gene': 'XKR9', 'score': 16.53}, {'connected_gene': 'LACTB2', 'score': 16.34}, {'connected_gene': 'LOC105375890', 'score': 0.34}, {'connected_gene': 'GC08P070527', 'score': 0.29}, {'connected_gene': 'TRAM1', 'score': 0.23}]
chr8 GH08I070631 70631281 70631859 0.68 [{'connected_gene': 'XKR9', 'score': 25.22}, {'connected_gene': 'LACTB2-AS1', 'score': 15.3}, {'connected_gene': 'TRAM1', 'score': 11.0}, {'connected_gene': 'RN7SL19P', 'score': 0.34}, {'connected_gene': 'GC08P070527', 'score': 0.15}]
chr8 GH08I071052 71052074 71054771 0.6 [{'connected_gene': 'XKR9', 'score': 47.76}, {'connected_gene': 'TRAM1', 'score': 6.67}, {'connected_gene': 'LACTB2', 'score': 6.16}, {'connected_gene': 'LOC105375894', 'score': 0.15}, {'connected_gene': 'GC08M070811', 'score': 0.1}]
chr8 GH08I070662 70662556 70663652 0.49 [{'connected_gene': 'XKR9', 'score': 50.94}, {'connected_gene': 'TRAM1', 'score': 11.1}, {'connected_gene': 'LACTB2-AS1', 'score': 11.1}, {'connected_gene': 'LACTB2', 'score': 7.38}, {'connected_gene': 'RN7SL19P', 'score': 0.44}]
chr8 GH08I070605 70605201 70605800 0.31 [{'connected_gene': 'XKR9', 'score': 8.1}, {'connected_gene': 'TRAM1', 'score': 0.77}, {'connected_gene': 'LOC105375890', 'score': 0.2}, {'connected_gene': 'GC08P070527', 'score': 0.18}]
chr8 GH08I070540 70540321 70541600 0.79 [{'connected_gene': 'XKR9', 'score': 4.65}, {'connected_gene': 'LOC105375890', 'score': 0.44}, {'connected_gene': 'GC08P070527', 'score': 0.39}, {'connected_gene': 'TRAM1', 'score': 0.2}]
chr8 GH08I071058 71058706 71059900 0.83 [{'connected_gene': 'TRAM1', 'score': 5.99}, {'connected_gene': 'LACTB2', 'score': 4.54}, {'connected_gene': 'LOC105375894', 'score': 0.15}, {'connected_gene': 'GC08M070811', 'score': 0.1}, {'connected_gene': 'XKR9', 'score': 0.05}]
chr8 GH08I070606 70606011 70611519 2.51 [{'connected_gene': 'TRAM1', 'score': 556.81}, {'connected_gene': 'LACTB2-AS1', 'score': 555.46}, {'connected_gene': 'XKR9', 'score': 41.09}, {'connected_gene': 'LACTB2', 'score': 16.56}, {'connected_gene': 'RN7SL19P', 'score': 0.25}, {'connected_gene': 'GC08P070527', 'score': 0.18}]
chr8 GH08I070633 70633604 70633747 0.2 [{'connected_gene': 'TRAM1', 'score': 11.47}, {'connected_gene': 'LACTB2-AS1', 'score': 11.47}, {'connected_gene': 'RN7SL19P', 'score': 0.34}, {'connected_gene': 'GC08P070527', 'score': 0.14}]
chr8 GH08I071056 71055870 71056644 0.42 [{'connected_gene': 'TRAM1', 'score': 5.99}, {'connected_gene': 'LOC105375894', 'score': 0.15}, {'connected_gene': 'GC08M070811', 'score': 0.1}, {'connected_gene': 'XKR9', 'score': 0.05}]
chr8 GH08I071035 71035415 71036058 0.31 [{'connected_gene': 'TRAM1', 'score': 5.99}, {'connected_gene': 'LOC105375894', 'score': 0.13}, {'connected_gene': 'GC08M070811', 'score': 0.12}, {'connected_gene': 'XKR9', 'score': 0.05}]