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
ENST00000354764 [[197697727, 197706096], [197707444, 197707549], [197708611, 197708799], [197709247, 197709298], [197710605, 197710741], [197711726, 197711924], [197712670, 197712761], [197729710, 197729804], [197735664, 197735703], [197737164, 197737273], [197737683, 197737750], [197738251, 197738303], [197738408, 197738482], [197740469, 197740545], [197744799, 197744877], [197750147, 197750199], [197750557, 197750604], [197755551, 197755635], [197757069, 197757125], [197757863, 197757969], [197761854, 197761921], [197763040, 197763093], [197767308, 197767466], [197777605, 197777777], [197781141, 197781317], [197784720, 197784874], [197791193, 197791455]] [[197705957, 197706096], [197707444, 197707549], [197708611, 197708799], [197709247, 197709298], [197710605, 197710741], [197711726, 197711924], [197712670, 197712761], [197729710, 197729804], [197735664, 197735703], [197737164, 197737273], [197737683, 197737750], [197738251, 197738303], [197738408, 197738482], [197740469, 197740545], [197744799, 197744877], [197750147, 197750199], [197750557, 197750604], [197755551, 197755635], [197757069, 197757125], [197757863, 197757969], [197761854, 197761921], [197763040, 197763093], [197767308, 197767466], [197777605, 197777777], [197781141, 197781317], [197784720, 197784874], [197791193, 197791340]]
ENST00000423035 [[197699907, 197706096], [197707444, 197707549], [197708611, 197708799], [197709247, 197709298], [197710605, 197710741], [197711726, 197711924], [197712670, 197712761], [197729710, 197729804], [197735664, 197735703], [197737164, 197737273], [197737683, 197737750], [197738251, 197738303], [197738408, 197738482], [197740469, 197740545], [197744799, 197744877], [197750147, 197750199], [197750557, 197750604], [197755551, 197755635], [197757069, 197757125], [197757863, 197757969], [197761854, 197761921], [197763040, 197763093], [197767308, 197767466], [197777605, 197777777], [197781141, 197781317], [197784720, 197784874], [197786826, 197786910], [197791193, 197791379]] [[197786904, 197786910], [197791193, 197791340]]
ENST00000470179 [[197706062, 197706096], [197707444, 197707549], [197708611, 197708799], [197709247, 197709298], [197710605, 197710741], [197711726, 197712761], [197729710, 197729804], [197735664, 197735703], [197737164, 197737273], [197737683, 197737750], [197738251, 197738303], [197738408, 197738482], [197740469, 197740545], [197744799, 197744877], [197750147, 197750199], [197750557, 197750604], [197755551, 197755635], [197757069, 197757125], [197757863, 197757969], [197761854, 197761921], [197763040, 197763093], [197791193, 197791464]] None
ENST00000409475 [[197712199, 197712761], [197735664, 197735703], [197737164, 197737273], [197737683, 197737750], [197738251, 197738303], [197738408, 197738482], [197740469, 197740545], [197744799, 197744877], [197750147, 197750199], [197750557, 197750604], [197755551, 197755635], [197757069, 197757125], [197757863, 197757969], [197761854, 197761921], [197763040, 197763093], [197767308, 197767466], [197777605, 197777777], [197781141, 197781317], [197784720, 197784874], [197791193, 197791454]] [[197712749, 197712761], [197735664, 197735703], [197737164, 197737273], [197737683, 197737750], [197738251, 197738303], [197738408, 197738482], [197740469, 197740545], [197744799, 197744877], [197750147, 197750199], [197750557, 197750604], [197755551, 197755635], [197757069, 197757125], [197757863, 197757969], [197761854, 197761921], [197763040, 197763093], [197767308, 197767466], [197777605, 197777777], [197781141, 197781317], [197784720, 197784874], [197791193, 197791340]]
ENST00000409188 [[197750176, 197750199], [197750557, 197750604], [197755551, 197755635], [197757863, 197757969], [197761854, 197761921], [197763040, 197763093], [197767308, 197767466], [197777605, 197777777], [197781141, 197781317], [197784720, 197784874], [197792313, 197792519]] [[197755627, 197755635], [197757863, 197757969], [197761854, 197761921], [197763040, 197763093], [197767308, 197767466], [197777605, 197777777], [197781141, 197781317], [197784720, 197784874], [197792313, 197792334]]
ENST00000374738 [[197750569, 197750604], [197755551, 197755635], [197757069, 197757125], [197757863, 197757969], [197761854, 197761921], [197763040, 197763093], [197791193, 197791469]] [[197750569, 197750604], [197755551, 197755635], [197757069, 197757125], [197757863, 197757969], [197761854, 197761921], [197763040, 197763093], [197791193, 197791340]]
ENST00000485830 [[197755590, 197755635], [197757863, 197757969], [197761854, 197761921], [197763040, 197763093], [197767308, 197767466], [197777605, 197777777], [197781141, 197781317], [197784720, 197784874], [197786826, 197786910], [197792313, 197792520]] None
ENST00000422444 [[197700313, 197706096], [197708611, 197708799], [197709247, 197709298], [197710605, 197710707]] [[197705957, 197706096], [197708611, 197708799], [197709247, 197709298], [197710605, 197710707]]
ENST00000459896 [[197702594, 197703253], [197707444, 197707549]] None
ENST00000476250 [[197737349, 197737750], [197738251, 197738303], [197738408, 197738680]] None
ENST00000482051 [[197737683, 197737750], [197738251, 197738303], [197738408, 197738482], [197740469, 197740545], [197742296, 197742360], [197744799, 197744877], [197750147, 197750199], [197750557, 197750604], [197755551, 197755581]] None
NM_024989 [[197697727, 197706096], [197707444, 197707549], [197708611, 197708799], [197709247, 197709298], [197710605, 197710741], [197711726, 197711924], [197712670, 197712761], [197729710, 197729804], [197735664, 197735703], [197737164, 197737273], [197737683, 197737750], [197738251, 197738303], [197738408, 197738482], [197740469, 197740545], [197744799, 197744877], [197750147, 197750199], [197750557, 197750604], [197755551, 197755635], [197757069, 197757125], [197757863, 197757969], [197761854, 197761921], [197763040, 197763093], [197767308, 197767466], [197777605, 197777777], [197781141, 197781317], [197784720, 197784874], [197791193, 197791454]] [[197705957, 197706096], [197707444, 197707549], [197708611, 197708799], [197709247, 197709298], [197710605, 197710741], [197711726, 197711924], [197712670, 197712761], [197729710, 197729804], [197735664, 197735703], [197737164, 197737273], [197737683, 197737750], [197738251, 197738303], [197738408, 197738482], [197740469, 197740545], [197744799, 197744877], [197750147, 197750199], [197750557, 197750604], [197755551, 197755635], [197757069, 197757125], [197757863, 197757969], [197761854, 197761921], [197763040, 197763093], [197767308, 197767466], [197777605, 197777777], [197781141, 197781317], [197784720, 197784874], [197791193, 197791340]]
NM_001321099 [[197697727, 197706096], [197707444, 197707549], [197708611, 197708799], [197709247, 197709298], [197710605, 197710741], [197711726, 197711924], [197712670, 197712761], [197729710, 197729804], [197735664, 197735703], [197737164, 197737273], [197737683, 197737750], [197738251, 197738303], [197738408, 197738482], [197740469, 197740545], [197744799, 197744877], [197750147, 197750199], [197750557, 197750604], [197755551, 197755635], [197757069, 197757125], [197757863, 197757969], [197761854, 197761921], [197763040, 197763093], [197767308, 197767466], [197777605, 197777777], [197781141, 197781317], [197784720, 197784874], [197786826, 197786910], [197791193, 197791455]] [[197705957, 197706096], [197707444, 197707549], [197708611, 197708799], [197709247, 197709298], [197710605, 197710741], [197711726, 197711924], [197712670, 197712761], [197729710, 197729804], [197735664, 197735703], [197737164, 197737273], [197737683, 197737750], [197738251, 197738303], [197738408, 197738482], [197740469, 197740545], [197744799, 197744877], [197750147, 197750199], [197750557, 197750604], [197755551, 197755635], [197757069, 197757125], [197757863, 197757969], [197761854, 197761921], [197763040, 197763093], [197767308, 197767466], [197777605, 197777732]]
NM_001321100 [[197697727, 197706096], [197707444, 197707549], [197708611, 197708799], [197709247, 197709298], [197710605, 197710741], [197711726, 197711924], [197712670, 197712761], [197729710, 197729804], [197735664, 197735703], [197737164, 197737273], [197737683, 197737750], [197738251, 197738303], [197738408, 197738482], [197740469, 197740545], [197744799, 197744877], [197750147, 197750199], [197750557, 197750604], [197755551, 197755635], [197757863, 197757969], [197761854, 197761921], [197763040, 197763093], [197767308, 197767466], [197777605, 197777777], [197781141, 197781317], [197784720, 197784874], [197791193, 197791455]] [[197705957, 197706096], [197707444, 197707549], [197708611, 197708799], [197709247, 197709298], [197710605, 197710741], [197711726, 197711924], [197712670, 197712761], [197729710, 197729804], [197735664, 197735703], [197737164, 197737273], [197737683, 197737750], [197738251, 197738303], [197738408, 197738482], [197740469, 197740545], [197744799, 197744877], [197750147, 197750199], [197750557, 197750604], [197755551, 197755557]]
Promoter
Chrom Start End Description
chr2 197791393 197791421 CAGE_peak_3_at_PGAP1_5end
chr2 197791423 197791438 CAGE_peak_2_at_PGAP1_5end
chr2 197791441 197791525 CAGE_peak_1_at_PGAP1_5end
chr2 197791602 197791620 CAGE_peak_5_at_PGAP1_5end
chr2 197791691 197791702 CAGE_peak_8_at_PGAP1_5end
chr2 197791712 197791747 CAGE_peak_4_at_PGAP1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I196963 196963195 196963573 0.33 [{'connected_gene': 'ANKRD44', 'score': 5.33}, {'connected_gene': 'COQ10B', 'score': 3.61}, {'connected_gene': 'SF3B1', 'score': 1.92}, {'connected_gene': 'GC02M196966', 'score': 0.77}, {'connected_gene': 'PGAP1', 'score': 0.28}]
chr2 GH02I197016 197016501 197018813 0.43 [{'connected_gene': 'ANKRD44', 'score': 11.55}, {'connected_gene': 'PGAP1', 'score': 10.34}, {'connected_gene': 'GTF3C3', 'score': 9.91}, {'connected_gene': 'ENSG00000202434', 'score': 9.6}, {'connected_gene': 'SF3B1', 'score': 9.59}, {'connected_gene': 'HNRNPA3P15', 'score': 0.77}, {'connected_gene': 'LOC100419110', 'score': 0.39}]
chr2 GH02I197005 197005533 197006108 0.65 [{'connected_gene': 'ANKRD44', 'score': 10.64}, {'connected_gene': 'PGAP1', 'score': 9.85}, {'connected_gene': 'HNRNPA3P15', 'score': 0.44}, {'connected_gene': 'GC02M196986', 'score': 0.37}]
chr2 GH02I197040 197040816 197045000 0.31 [{'connected_gene': 'ANKRD44', 'score': 11.55}, {'connected_gene': 'PGAP1', 'score': 9.89}, {'connected_gene': 'GC02M197031', 'score': 0.44}, {'connected_gene': 'GC02P197060', 'score': 0.37}, {'connected_gene': 'GC02P197062', 'score': 0.37}]
chr2 GH02I197282 197279209 197279547 0.42 [{'connected_gene': 'ANKRD44', 'score': 8.81}, {'connected_gene': 'MOB4', 'score': 1.85}, {'connected_gene': 'SF3B1', 'score': 1.36}, {'connected_gene': 'PGAP1', 'score': 1.18}, {'connected_gene': 'GC02P197265', 'score': 0.37}, {'connected_gene': 'ANKRD44-IT1', 'score': 0.34}]
chr2 GH02I197124 197124541 197125435 0.58 [{'connected_gene': 'ANKRD44', 'score': 19.06}, {'connected_gene': 'ANKRD44-IT1', 'score': 11.84}, {'connected_gene': 'LOC105373824', 'score': 11.83}, {'connected_gene': 'SF3B1', 'score': 10.7}, {'connected_gene': 'RNU6-1029P', 'score': 10.7}, {'connected_gene': 'PGAP1', 'score': 9.87}, {'connected_gene': 'ENSG00000202434', 'score': 9.65}, {'connected_gene': 'GC02P197128', 'score': 0.77}, {'connected_gene': 'GC02M197096', 'score': 0.31}]
chr2 GH02I196924 196924554 196928399 2.05 [{'connected_gene': 'PGAP1', 'score': 550.77}, {'connected_gene': 'GTF3C3', 'score': 23.5}, {'connected_gene': 'SF3B1', 'score': 18.98}, {'connected_gene': 'NPM1P46', 'score': 14.84}, {'connected_gene': 'LOC101927482', 'score': 11.76}, {'connected_gene': 'C2orf66', 'score': 6.35}, {'connected_gene': 'GC02P196852', 'score': 0.19}]
chr2 GH02I197001 197001266 197004336 0.2 [{'connected_gene': 'PGAP1', 'score': 11.42}, {'connected_gene': 'ANKRD44', 'score': 10.62}, {'connected_gene': 'ENSG00000202434', 'score': 10.17}, {'connected_gene': 'SF3B1', 'score': 10.16}, {'connected_gene': 'HNRNPA3P15', 'score': 0.39}, {'connected_gene': 'GC02M196986', 'score': 0.39}]
chr2 GH02I197012 197012137 197012286 0.84 [{'connected_gene': 'PGAP1', 'score': 10.34}, {'connected_gene': 'ANKRD44', 'score': 7.7}, {'connected_gene': 'HNRNPA3P15', 'score': 0.77}, {'connected_gene': 'GC02M196986', 'score': 0.34}]
chr2 GH02I197010 197010331 197011174 0.51 [{'connected_gene': 'PGAP1', 'score': 10.87}, {'connected_gene': 'ANKRD44', 'score': 10.63}, {'connected_gene': 'HNRNPA3P15', 'score': 0.77}, {'connected_gene': 'GC02M196986', 'score': 0.34}]
chr2 GH02I196983 196983800 196984201 0.88 [{'connected_gene': 'PGAP1', 'score': 11.21}, {'connected_gene': 'GC02M196986', 'score': 0.77}, {'connected_gene': 'GC02M196966', 'score': 0.37}, {'connected_gene': 'ANKRD44', 'score': 0.05}]
chr2 GH02I196800 196800991 196802665 0.57 [{'connected_gene': 'PGAP1', 'score': 9.81}, {'connected_gene': 'C2orf66', 'score': 6.63}, {'connected_gene': 'GTF3C3', 'score': 0.77}]
chr2 GH02I196994 196994674 196996553 0.2 [{'connected_gene': 'PGAP1', 'score': 11.44}, {'connected_gene': 'ENSG00000202434', 'score': 10.17}, {'connected_gene': 'SF3B1', 'score': 10.16}, {'connected_gene': 'ANKRD44', 'score': 9.14}, {'connected_gene': 'GC02M196986', 'score': 0.44}, {'connected_gene': 'HNRNPA3P15', 'score': 0.37}]
chr2 GH02I197008 197008084 197009451 0.46 [{'connected_gene': 'PGAP1', 'score': 10.87}, {'connected_gene': 'HNRNPA3P15', 'score': 0.44}, {'connected_gene': 'GC02M196986', 'score': 0.34}, {'connected_gene': 'ANKRD44', 'score': 0.06}]
chr2 GH02I196991 196991217 196991366 0.51 [{'connected_gene': 'PGAP1', 'score': 10.19}, {'connected_gene': 'GC02M196986', 'score': 0.77}, {'connected_gene': 'HNRNPA3P15', 'score': 0.34}, {'connected_gene': 'ANKRD44', 'score': 0.06}]
chr2 GH02I196939 196939149 196939927 0.31 [{'connected_gene': 'PGAP1', 'score': 0.39}, {'connected_gene': 'GC02M196966', 'score': 0.31}]
chr2 GH02I196153 196153050 196157343 0.75 [{'connected_gene': 'DNAH7', 'score': 30.92}, {'connected_gene': 'ENSG00000272211', 'score': 12.6}, {'connected_gene': 'PGAP1', 'score': 5.3}, {'connected_gene': 'STK17B', 'score': 4.43}, {'connected_gene': 'LOC101927482', 'score': 4.07}, {'connected_gene': 'LOC101927454', 'score': 0.37}, {'connected_gene': 'GC02M196143', 'score': 0.15}]
chr2 GH02I196821 196821727 196821963 0.22 [{'connected_gene': 'C2orf66', 'score': 10.41}, {'connected_gene': 'PGAP1', 'score': 6.77}, {'connected_gene': 'GC02P196828', 'score': 0.44}]
chr2 GH02I196914 196914910 196916055 0.2 [{'connected_gene': 'C2orf66', 'score': 4.9}, {'connected_gene': 'PGAP1', 'score': 0.39}, {'connected_gene': 'GC02P196852', 'score': 0.21}]
chr2 GH02I197120 197120745 197123573 0.31 [{'connected_gene': 'SF3B1', 'score': 10.7}, {'connected_gene': 'RNU6-1029P', 'score': 10.7}, {'connected_gene': 'PGAP1', 'score': 9.87}, {'connected_gene': 'ENSG00000202434', 'score': 9.65}, {'connected_gene': 'ANKRD44', 'score': 6.75}, {'connected_gene': 'GC02P197128', 'score': 0.44}, {'connected_gene': 'GC02M197096', 'score': 0.31}]
chr2 GH02I197118 197118689 197120167 0.2 [{'connected_gene': 'SF3B1', 'score': 10.7}, {'connected_gene': 'RNU6-1029P', 'score': 10.7}, {'connected_gene': 'PGAP1', 'score': 9.87}, {'connected_gene': 'ENSG00000202434', 'score': 9.7}, {'connected_gene': 'ANKRD44', 'score': 6.69}, {'connected_gene': 'GC02P197128', 'score': 0.44}, {'connected_gene': 'GC02M197096', 'score': 0.34}]
chr2 GH02I197028 197028377 197028526 0.38 [{'connected_gene': 'LOC100419110', 'score': 550.77}, {'connected_gene': 'PGAP1', 'score': 10.66}, {'connected_gene': 'ENSG00000202434', 'score': 9.54}, {'connected_gene': 'SF3B1', 'score': 9.54}, {'connected_gene': 'HNRNPA3P15', 'score': 0.39}, {'connected_gene': 'ANKRD44', 'score': 0.06}]
chr2 GH02I197031 197031073 197033957 0.38 [{'connected_gene': 'GC02M197031', 'score': 550.77}, {'connected_gene': 'ANKRD44', 'score': 11.98}, {'connected_gene': 'PGAP1', 'score': 10.03}, {'connected_gene': 'LOC100419110', 'score': 0.77}]
chr2 GH02I196986 196986934 196989281 1.26 [{'connected_gene': 'GC02M196986', 'score': 550.77}, {'connected_gene': 'ANKRD44', 'score': 17.66}, {'connected_gene': 'PGAP1', 'score': 11.09}, {'connected_gene': 'GC02M196966', 'score': 0.34}]
chr2 GH02I196966 196966601 196967511 0.38 [{'connected_gene': 'GC02M196966', 'score': 550.77}, {'connected_gene': 'PGAP1', 'score': 10.84}, {'connected_gene': 'ANKRD44', 'score': 6.2}, {'connected_gene': 'GC02M196986', 'score': 0.34}]
chr2 GH02I197080 197080403 197083472 0.65 [{'connected_gene': 'ENSG00000202434', 'score': 9.92}, {'connected_gene': 'SF3B1', 'score': 9.92}, {'connected_gene': 'PGAP1', 'score': 9.59}, {'connected_gene': 'ANKRD44', 'score': 5.69}, {'connected_gene': 'GC02P197064', 'score': 0.37}, {'connected_gene': 'GC02M197096', 'score': 0.37}, {'connected_gene': 'GC02P197060', 'score': 0.34}, {'connected_gene': 'GC02P197061', 'score': 0.34}, {'connected_gene': 'GC02P197062', 'score': 0.34}, {'connected_gene': 'GC02P197063', 'score': 0.34}]
chr2 GH02I197093 197093555 197095522 0.2 [{'connected_gene': 'ENSG00000202434', 'score': 9.87}, {'connected_gene': 'SF3B1', 'score': 9.86}, {'connected_gene': 'PGAP1', 'score': 9.85}, {'connected_gene': 'ANKRD44', 'score': 8.04}, {'connected_gene': 'GC02M197096', 'score': 0.77}, {'connected_gene': 'GC02P197064', 'score': 0.29}]

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