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
ENST00000254193 [[101821714, 101821987], [101825171, 101825265], [101825930, 101826006], [101826418, 101826498], [101827112, 101827215], [101827860, 101827907], [101832166, 101832245], [101833229, 101833377], [101835301, 101835456]] [[101821928, 101821987], [101825171, 101825265], [101825930, 101826006], [101826418, 101826498], [101827112, 101827215], [101827860, 101827907], [101832166, 101832245], [101833229, 101833377], [101835301, 101835383]]
ENST00000560307 [[101821718, 101821987], [101825171, 101825335]] None
ENST00000559309 [[101821718, 101821987], [101825171, 101825265], [101825930, 101826006], [101827112, 101827215], [101827860, 101827907], [101832166, 101832245], [101833229, 101833377], [101835301, 101835409]] [[101826000, 101826006], [101827112, 101827215], [101827860, 101827907], [101832166, 101832245], [101833229, 101833377], [101835301, 101835383]]
ENST00000558036 [[101821718, 101821987], [101825171, 101825265], [101825930, 101827215], [101827860, 101827907], [101832166, 101832245], [101833229, 101833377], [101835301, 101835487]] None
ENST00000560433 [[101821719, 101821987], [101825171, 101825265], [101825930, 101827215], [101827860, 101828653]] None
ENST00000394082 [[101821858, 101821987], [101825171, 101825265], [101825930, 101826006], [101827112, 101827215], [101827860, 101827907], [101835301, 101835408]] None
ENST00000540017 [[101821913, 101821987], [101825171, 101825265], [101825930, 101826006], [101827112, 101827215], [101835301, 101835460]] None
ENST00000560496 [[101821949, 101821987], [101825171, 101825265], [101825930, 101826006], [101826418, 101826498], [101827112, 101827215], [101827860, 101827907], [101832166, 101832245], [101833229, 101833377], [101833497, 101833598], [101835052, 101835110]] [[101821949, 101821987], [101825171, 101825265], [101825930, 101826006], [101826418, 101826477]]
ENST00000559686 [[101824940, 101825265], [101825930, 101826006], [101826418, 101826498], [101827112, 101827215], [101827860, 101827901]] [[101825136, 101825265], [101825930, 101826006], [101826418, 101826498], [101827112, 101827215], [101827860, 101827901]]
ENST00000560383 [[101826814, 101827215], [101827860, 101827907], [101835301, 101835418]] None
ENST00000558059 [[101826894, 101827215], [101827860, 101827907], [101832166, 101832245], [101833229, 101833377], [101835052, 101835135]] None
ENST00000560987 [[101827125, 101827215], [101827860, 101827907], [101832166, 101832245], [101833229, 101833377], [101835052, 101835166]] None
ENST00000560856 [[101827136, 101827215], [101827860, 101827907], [101830018, 101830127], [101832166, 101832245], [101833229, 101833377], [101835301, 101835427]] None
ENST00000558020 [[101828286, 101828410], [101832166, 101832245], [101833229, 101833377], [101835301, 101835416]] None
ENST00000561187 [[101833043, 101833377], [101835301, 101835476]] None
NM_003090 [[101821714, 101821987], [101825171, 101825265], [101825930, 101826006], [101826418, 101826498], [101827112, 101827215], [101827860, 101827907], [101832166, 101832245], [101833229, 101833377], [101835301, 101835487]] [[101821928, 101821987], [101825171, 101825265], [101825930, 101826006], [101826418, 101826498], [101827112, 101827215], [101827860, 101827907], [101832166, 101832245], [101833229, 101833377], [101835301, 101835383]]
NR_135508 [[101821714, 101821987], [101825171, 101825265], [101825930, 101826006], [101827112, 101827215], [101827860, 101827907], [101832166, 101832245], [101833229, 101833377], [101835301, 101835487]] None
NR_135506 [[101821714, 101821987], [101825171, 101825265], [101825930, 101826006], [101827112, 101827215], [101827860, 101827907], [101835301, 101835487]] None
NR_135507 [[101821714, 101821987], [101825171, 101825265], [101825930, 101826006], [101827112, 101827215], [101835301, 101835487]] None
Promoter
Chrom Start End Description
chr15 101835131 101835163 CAGE_peak_3_at_SNRPA1_5end
chr15 101835414 101835462 CAGE_peak_1_at_SNRPA1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr15 GH15I101640 101640665 101643321 1.21 [{'connected_gene': 'TM2D3', 'score': 28.69}, {'connected_gene': 'TARSL2', 'score': 20.07}, {'connected_gene': 'LOC100128108', 'score': 14.61}, {'connected_gene': 'SNRPA1', 'score': 11.53}, {'connected_gene': 'SELENOS', 'score': 11.25}, {'connected_gene': 'RNU6-807P', 'score': 0.44}, {'connected_gene': 'LINC02348', 'score': 0.31}]
chr15 GH15I101289 101289016 101289185 0.59 [{'connected_gene': 'SNRPA1', 'score': 0.44}, {'connected_gene': 'SELENOS', 'score': 0.39}]
chr15 GH15I101293 101293015 101297693 2.33 [{'connected_gene': 'SNRPA1', 'score': 553.83}, {'connected_gene': 'ENSG00000259172', 'score': 550.77}, {'connected_gene': 'LINS1', 'score': 45.26}, {'connected_gene': 'LOC100419174', 'score': 22.82}, {'connected_gene': 'CERS3-AS1', 'score': 14.01}, {'connected_gene': 'PRKXP1', 'score': 13.86}, {'connected_gene': 'RNU6-807P', 'score': 11.63}, {'connected_gene': 'WASH3P', 'score': 10.95}, {'connected_gene': 'LRRK1', 'score': 10.56}, {'connected_gene': 'ENSG00000270127', 'score': 10.06}, {'connected_gene': 'ASB7', 'score': 10.05}, {'connected_gene': 'TARSL2', 'score': 3.75}, {'connected_gene': 'TM2D3', 'score': 2.09}, {'connected_gene': 'PCSK6', 'score': 0.07}]
chr15 GH15I101445 101445242 101447504 1.72 [{'connected_gene': 'SNRPA1', 'score': 13.5}, {'connected_gene': 'PRKXP1', 'score': 13.11}, {'connected_gene': 'TM2D3', 'score': 13.06}, {'connected_gene': 'LINS1', 'score': 12.22}, {'connected_gene': 'LOC100419174', 'score': 11.16}, {'connected_gene': 'ASB7', 'score': 9.94}, {'connected_gene': 'ENSG00000270127', 'score': 9.74}, {'connected_gene': 'WASH3P', 'score': 9.66}, {'connected_gene': 'PCSK6', 'score': 6.2}, {'connected_gene': 'CHSY1', 'score': 1.76}, {'connected_gene': 'PIR54076', 'score': 0.37}, {'connected_gene': 'LOC105371028', 'score': 0.22}]
chr15 GH15I101450 101450230 101454729 1.43 [{'connected_gene': 'SNRPA1', 'score': 10.62}, {'connected_gene': 'RNU6-807P', 'score': 10.23}, {'connected_gene': 'LINS1', 'score': 9.74}, {'connected_gene': 'PCSK6', 'score': 6.1}, {'connected_gene': 'PIR54076', 'score': 0.31}, {'connected_gene': 'LOC105371028', 'score': 0.25}]
chr15 GH15I101490 101490287 101493774 0.81 [{'connected_gene': 'SNRPA1', 'score': 17.9}, {'connected_gene': 'LOC100419174', 'score': 14.71}, {'connected_gene': 'LINS1', 'score': 14.65}, {'connected_gene': 'PRKXP1', 'score': 13.71}, {'connected_gene': 'WASH3P', 'score': 12.97}, {'connected_gene': 'ASB7', 'score': 11.14}, {'connected_gene': 'LRRK1', 'score': 10.0}, {'connected_gene': 'LOC105371028', 'score': 0.44}, {'connected_gene': 'GC15M101488', 'score': 0.34}, {'connected_gene': 'PCSK6', 'score': 0.29}, {'connected_gene': 'PIR54076', 'score': 0.21}]
chr15 GH15I100720 100720173 100728806 1.69 [{'connected_gene': 'SNRPA1', 'score': 11.73}, {'connected_gene': 'LOC100419174', 'score': 10.35}, {'connected_gene': 'SPATA41', 'score': 6.83}, {'connected_gene': 'ALDH1A3', 'score': 4.2}, {'connected_gene': 'LOC105371024', 'score': 0.44}, {'connected_gene': 'GC15M100739', 'score': 0.34}]
chr15 GH15I101275 101275966 101279175 2.3 [{'connected_gene': 'SELENOS', 'score': 550.77}, {'connected_gene': 'PIR47639', 'score': 550.77}, {'connected_gene': 'CHSY1', 'score': 11.78}, {'connected_gene': 'RNU6-807P', 'score': 10.7}, {'connected_gene': 'SNRPA1', 'score': 0.37}]
chr15 GH15I101254 101254670 101256650 1.16 [{'connected_gene': 'LINS1', 'score': 20.23}, {'connected_gene': 'CERS3-AS1', 'score': 12.4}, {'connected_gene': 'SNRPA1', 'score': 11.76}, {'connected_gene': 'LRRK1', 'score': 11.52}, {'connected_gene': 'LOC100419174', 'score': 10.54}, {'connected_gene': 'LOC100128108', 'score': 10.5}, {'connected_gene': 'ASB7', 'score': 10.06}, {'connected_gene': 'CHSY1', 'score': 0.77}, {'connected_gene': 'GC15M101273', 'score': 0.37}, {'connected_gene': 'PIR39927', 'score': 0.37}]
chr15 GH15I101448 101448371 101449077 0.2 [{'connected_gene': 'PCSK6', 'score': 12.54}, {'connected_gene': 'SNRPA1', 'score': 11.05}, {'connected_gene': 'RNU6-807P', 'score': 10.85}, {'connected_gene': 'PIR54076', 'score': 0.34}, {'connected_gene': 'LOC105371028', 'score': 0.23}]
chr15 GH15I101491 101490052 101490111 1.22 [{'connected_gene': 'PCSK6', 'score': 550.28}, {'connected_gene': 'SNRPA1', 'score': 17.9}, {'connected_gene': 'LOC100419174', 'score': 14.71}, {'connected_gene': 'LINS1', 'score': 14.65}, {'connected_gene': 'PRKXP1', 'score': 13.71}, {'connected_gene': 'WASH3P', 'score': 12.97}, {'connected_gene': 'ASB7', 'score': 11.14}, {'connected_gene': 'LRRK1', 'score': 10.0}, {'connected_gene': 'LOC105371028', 'score': 0.39}, {'connected_gene': 'GC15M101488', 'score': 0.34}, {'connected_gene': 'PIR54076', 'score': 0.21}]
chr15 GH15I101120 101120857 101129332 1.61 [{'connected_gene': 'WASH3P', 'score': 22.31}, {'connected_gene': 'CHSY1', 'score': 20.63}, {'connected_gene': 'LOC100419174', 'score': 13.28}, {'connected_gene': 'PRKXP1', 'score': 12.34}, {'connected_gene': 'ASB7', 'score': 12.11}, {'connected_gene': 'LINS1', 'score': 11.76}, {'connected_gene': 'SNRPA1', 'score': 11.72}, {'connected_gene': 'LRRK1', 'score': 5.75}, {'connected_gene': 'ENSG00000259365', 'score': 0.44}, {'connected_gene': 'LOC105371026', 'score': 0.31}]
chr15 GH15I101182 101182028 101195799 1.5 [{'connected_gene': 'CHSY1', 'score': 25.09}, {'connected_gene': 'LINS1', 'score': 16.27}, {'connected_gene': 'LOC100419174', 'score': 15.2}, {'connected_gene': 'SNRPA1', 'score': 12.55}, {'connected_gene': 'WASH3P', 'score': 12.5}, {'connected_gene': 'TM2D3', 'score': 11.45}, {'connected_gene': 'ASB7', 'score': 10.63}, {'connected_gene': 'PIR58100', 'score': 0.77}, {'connected_gene': 'GC15M101194', 'score': 0.37}]
chr15 GH15I101279 101279456 101281450 0.59 [{'connected_gene': 'CHSY1', 'score': 11.63}, {'connected_gene': 'RNU6-807P', 'score': 11.12}, {'connected_gene': 'SELENOS', 'score': 0.77}, {'connected_gene': 'SNRPA1', 'score': 0.39}]
chr15 GH15I100341 100341200 100342665 1.94 [{'connected_gene': 'ADAMTS17', 'score': 550.77}, {'connected_gene': 'SNRPA1', 'score': 12.15}, {'connected_gene': 'SPATA41', 'score': 6.72}, {'connected_gene': 'CERS3-AS1', 'score': 5.22}, {'connected_gene': 'PIR51596', 'score': 0.34}]
chr15 GH15I101745 101745200 101747201 1.33 [{'connected_gene': 'LOC100128108', 'score': 559.78}, {'connected_gene': 'PIR33824', 'score': 550.77}, {'connected_gene': 'PIR52825', 'score': 550.77}, {'connected_gene': 'SNRPA1', 'score': 32.87}, {'connected_gene': 'WASH3P', 'score': 24.15}, {'connected_gene': 'LRRK1', 'score': 19.66}, {'connected_gene': 'GC15P101730', 'score': 0.37}, {'connected_gene': 'GC15M101723', 'score': 0.25}]
chr15 GH15I101197 101197086 101211399 1.68 [{'connected_gene': 'GC15M101194', 'score': 550.77}, {'connected_gene': 'CHSY1', 'score': 27.22}, {'connected_gene': 'SNRPA1', 'score': 17.98}, {'connected_gene': 'LOC100419174', 'score': 14.72}, {'connected_gene': 'LINS1', 'score': 14.65}, {'connected_gene': 'PRKXP1', 'score': 13.72}, {'connected_gene': 'TM2D3', 'score': 13.33}, {'connected_gene': 'WASH3P', 'score': 12.95}, {'connected_gene': 'ASB7', 'score': 11.15}, {'connected_gene': 'LRRK1', 'score': 10.03}, {'connected_gene': 'PIR58100', 'score': 0.37}]