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
ENST00000383737 [[47892181, 47894529], [47894652, 47894842], [47896737, 47896850], [47898920, 47899002], [47912302, 47912595], [47912716, 47912776], [47913406, 47913590], [47917174, 47917390], [47918906, 47919013], [47950527, 47950753], [47958359, 47958664], [47960208, 47960331], [47963254, 47963368], [47969717, 47969840], [48019354, 48019423], [48040127, 48040369], [48130262, 48130769]] [[47894521, 47894529], [47894652, 47894842], [47896737, 47896850], [47898920, 47899002], [47912302, 47912595], [47912716, 47912776], [47913406, 47913590], [47917174, 47917390], [47918906, 47919013], [47950527, 47950753], [47958359, 47958664], [47960208, 47960331], [47963254, 47963368], [47969717, 47969840], [48019354, 48019423], [48040127, 48040350]]
ENST00000395734 [[47892185, 47894428], [47896737, 47896850], [47898920, 47899002], [47908735, 47908828], [47910703, 47910817], [47912302, 47912595], [47912716, 47912776], [47913406, 47913590], [47917174, 47917390], [47918906, 47919013], [47956306, 47956429], [47957440, 47958664], [47960208, 47960331], [47963254, 47963368], [47969717, 47969840], [48019354, 48019423], [48040127, 48040369], [48130262, 48130329]] [[47894281, 47894428], [47896737, 47896850], [47898920, 47899002], [47908735, 47908828], [47910703, 47910817], [47912302, 47912595], [47912716, 47912776], [47913406, 47913590], [47917174, 47917390], [47918906, 47919013], [47956306, 47956429], [47957440, 47958664], [47960208, 47960331], [47963254, 47963368], [47969717, 47969840], [48019354, 48019423], [48040127, 48040350]]
ENST00000426837 [[47892583, 47894529], [47894652, 47894842], [47896737, 47896850], [47898920, 47899002], [47908735, 47908828], [47910703, 47910817], [47912302, 47912595], [47912716, 47912776], [47913406, 47913590], [47917174, 47917390], [47918906, 47919013], [47950527, 47953911], [47956306, 47956429], [47957440, 47958664], [47960208, 47960331], [47963254, 47963368], [47969717, 47969840], [48019354, 48019423], [48028872, 48028923], [48040127, 48040369], [48130262, 48130331]] [[47894521, 47894529], [47894652, 47894842], [47896737, 47896850], [47898920, 47899002], [47908735, 47908828], [47910703, 47910817], [47912302, 47912595], [47912716, 47912776], [47913406, 47913590], [47917174, 47917390], [47918906, 47919013], [47950527, 47953911], [47956306, 47956429], [47957440, 47958664], [47960208, 47960331], [47963254, 47963368], [47969717, 47969840], [48019354, 48019423], [48028872, 48028923], [48040127, 48040350]]
ENST00000360240 [[47893357, 47894529], [47894652, 47894842], [47896737, 47896850], [47898920, 47899002], [47908735, 47908828], [47910703, 47910817], [47912302, 47912595], [47912716, 47912776], [47913406, 47913590], [47917174, 47917390], [47918906, 47919013], [47956306, 47956429], [47957440, 47958664], [47960208, 47960331], [47963254, 47963368], [47969717, 47969840], [48019354, 48019423], [48040127, 48040369], [48130262, 48130762]] [[47894521, 47894529], [47894652, 47894842], [47896737, 47896850], [47898920, 47899002], [47908735, 47908828], [47910703, 47910817], [47912302, 47912595], [47912716, 47912776], [47913406, 47913590], [47917174, 47917390], [47918906, 47919013], [47956306, 47956429], [47957440, 47958664], [47960208, 47960331], [47963254, 47963368], [47969717, 47969840], [48019354, 48019423], [48040127, 48040350]]
ENST00000423088 [[47958351, 47958664], [47960208, 47960331], [47969717, 47969840], [48019354, 48019423], [48040127, 48040370]] [[47958351, 47958664], [47960208, 47960331], [47969717, 47969840], [48019354, 48019423], [48040127, 48040370]]
ENST00000439356 [[48014575, 48016955], [48019354, 48019423], [48040127, 48040369], [48130262, 48130314]] [[48016947, 48016955], [48019354, 48019423], [48040127, 48040350]]
ENST00000468075 [[48040124, 48040369], [48130453, 48130693]] None
ENST00000264724 [[47892181, 47894529], [47894652, 47894842], [47896737, 47896850], [47898920, 47899002], [47908735, 47908828], [47910703, 47910817], [47912302, 47912595], [47912716, 47912776], [47913406, 47913590], [47917174, 47917390], [47918906, 47919013], [47950527, 47951731]] [[47894521, 47894529], [47894652, 47894842], [47896737, 47896850], [47898920, 47899002], [47908735, 47908828], [47910703, 47910817], [47912302, 47912595], [47912716, 47912776], [47913406, 47913590], [47917174, 47917390], [47918906, 47919013], [47950527, 47951731]]
ENST00000429422 [[47892184, 47894428], [47894652, 47894842], [47896737, 47896850], [47898920, 47899002], [47912302, 47912595], [47912716, 47912776], [47913406, 47913590], [47917174, 47917390], [47918906, 47919013], [47950527, 47950757]] [[47894423, 47894428], [47894652, 47894842], [47896737, 47896850], [47898920, 47899002], [47912302, 47912595], [47912716, 47912776], [47913406, 47913590], [47917174, 47917390], [47918906, 47919013], [47950527, 47950757]]
ENST00000420772 [[47893634, 47894428], [47896737, 47896850], [47898920, 47899002], [47908735, 47908828], [47912302, 47912595], [47913406, 47913590], [47918906, 47919013], [47932513, 47934325]] [[47894281, 47894428], [47896737, 47896850], [47898920, 47899002], [47908735, 47908828], [47912302, 47912595], [47913406, 47913590], [47918906, 47919013], [47932513, 47933981]]
ENST00000441748 [[47894109, 47894428], [47896737, 47896850], [47898920, 47899002], [47908735, 47908828], [47912302, 47912595], [47912716, 47912776], [47913406, 47913590], [47918906, 47919013], [47932513, 47932795]] [[47894281, 47894428], [47896737, 47896850], [47898920, 47899002], [47908735, 47908828], [47912302, 47912595], [47912716, 47912738]]
ENST00000335271 [[47894109, 47894428], [47896737, 47896850], [47898920, 47899002], [47908735, 47908828], [47912302, 47912595], [47912716, 47912776], [47913406, 47913590], [47918906, 47919013], [47932513, 47932826]] [[47894281, 47894428], [47896737, 47896850], [47898920, 47899002], [47908735, 47908828], [47912302, 47912595], [47912716, 47912776], [47913406, 47913590], [47918906, 47919013], [47932513, 47932826]]
ENST00000477765 [[47896614, 47896850], [47898920, 47898968]] None
ENST00000383736 [[47910701, 47910817], [47912347, 47912595], [47912716, 47912776], [47913406, 47913590], [47917174, 47917390], [47918906, 47919013], [47950527, 47951878]] [[47910701, 47910817], [47912347, 47912595], [47912716, 47912776], [47913406, 47913590], [47917174, 47917390], [47918906, 47919013], [47950527, 47951731]]
ENST00000462206 [[47912737, 47912776], [47913406, 47913590], [47918906, 47919255]] None
ENST00000497735 [[47918409, 47919013], [47932513, 47934065]] None
ENST00000482752 [[47918816, 47919013], [47963254, 47963368], [47969717, 47969792]] None
ENST00000434267 [[48014573, 48016955], [48019354, 48019423], [48040127, 48040369], [48057823, 48057902]] [[48016947, 48016955], [48019354, 48019423], [48040127, 48040350]]
NM_002375 [[47892179, 47894529], [47894652, 47894842], [47896737, 47896850], [47898920, 47899002], [47908735, 47908828], [47910703, 47910817], [47912302, 47912595], [47912716, 47912776], [47913406, 47913590], [47917174, 47917390], [47918906, 47919013], [47956306, 47956429], [47957440, 47958664], [47960208, 47960331], [47963254, 47963368], [47969717, 47969840], [48019354, 48019423], [48040127, 48040369], [48130262, 48130769]] [[47894521, 47894529], [47894652, 47894842], [47896737, 47896850], [47898920, 47899002], [47908735, 47908828], [47910703, 47910817], [47912302, 47912595], [47912716, 47912776], [47913406, 47913590], [47917174, 47917390], [47918906, 47919013], [47956306, 47956429], [47957440, 47958664], [47960208, 47960331], [47963254, 47963368], [47969717, 47969840], [48019354, 48019423], [48040127, 48040350]]
NM_001134364 [[47892179, 47894428], [47896737, 47896850], [47898920, 47899002], [47908735, 47908828], [47910703, 47910817], [47912302, 47912595], [47912716, 47912776], [47913406, 47913590], [47917174, 47917390], [47918906, 47919013], [47956306, 47956429], [47957440, 47958664], [47960208, 47960331], [47963254, 47963368], [47969717, 47969840], [48019354, 48019423], [48040127, 48040369], [48130262, 48130769]] [[47894281, 47894428], [47896737, 47896850], [47898920, 47899002], [47908735, 47908828], [47910703, 47910817], [47912302, 47912595], [47912716, 47912776], [47913406, 47913590], [47917174, 47917390], [47918906, 47919013], [47956306, 47956429], [47957440, 47958664], [47960208, 47960331], [47963254, 47963368], [47969717, 47969840], [48019354, 48019423], [48040127, 48040350]]
NM_030885 [[48014568, 48016955], [48019354, 48019423], [48040127, 48040369], [48130262, 48130769]] [[48016947, 48016955], [48019354, 48019423], [48040127, 48040350]]
Promoter
Chrom Start End Description
chr3 47894346 47894375 CAGE_peak_15_at_MAP4_5end
chr3 47932559 47932570 CAGE_peak_21_at_MAP4_5end
chr3 47932581 47932592 CAGE_peak_29_at_MAP4_5end
chr3 47932712 47932731 CAGE_peak_13_at_MAP4_5end
chr3 47932759 47932803 CAGE_peak_12_at_MAP4_5end
chr3 47933918 47933937 CAGE_peak_8_at_MAP4_5end
chr3 47933942 47933975 CAGE_peak_7_at_MAP4_5end
chr3 47933982 47934047 CAGE_peak_3_at_MAP4_5end
chr3 47934141 47934146 CAGE_peak_53_at_MAP4_5end
chr3 47934234 47934243 CAGE_peak_63_at_MAP4_5end
chr3 47950745 47950755 CAGE_peak_35_at_MAP4_5end
chr3 48016734 48016748 CAGE_peak_49_at_MAP4_5end
chr3 48016793 48016804 CAGE_peak_45_at_MAP4_5end
chr3 48057857 48057863 CAGE_peak_56_at_MAP4_5end
chr3 48057877 48057888 CAGE_peak_37_at_MAP4_5end
chr3 48057890 48057923 CAGE_peak_6_at_MAP4_5end
chr3 48130289 48130301 CAGE_peak_2_at_MAP4_5end
chr3 48130317 48130396 CAGE_peak_1_at_MAP4_5end
chr3 48130421 48130428 CAGE_peak_5_at_MAP4_5end
chr3 48130707 48130789 CAGE_peak_4_at_MAP4_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I047950 47950484 47950609 0.38 [{'connected_gene': 'CDC25A', 'score': 12.9}, {'connected_gene': 'RNU7-128P', 'score': 10.27}, {'connected_gene': 'NDUFB1P1', 'score': 10.27}, {'connected_gene': 'SMARCC1', 'score': 2.09}, {'connected_gene': 'ATRIP', 'score': 1.35}, {'connected_gene': 'CCDC51', 'score': 1.34}, {'connected_gene': 'VPS26BP1', 'score': 0.39}, {'connected_gene': 'ENSG00000199591', 'score': 0.37}, {'connected_gene': 'GC03M047931', 'score': 0.37}, {'connected_gene': 'MAP4', 'score': 0.12}]
chr3 GH03I047778 47778222 47783378 2.28 [{'connected_gene': 'SMARCC1', 'score': 550.77}, {'connected_gene': 'ZNF589', 'score': 14.36}, {'connected_gene': 'DHX30', 'score': 11.7}, {'connected_gene': 'MAP4', 'score': 11.61}, {'connected_gene': 'SCAP', 'score': 10.85}, {'connected_gene': 'SLC26A6', 'score': 4.78}, {'connected_gene': 'ENSG00000235695', 'score': 0.13}]
chr3 GH03I047871 47871011 47872936 0.77 [{'connected_gene': 'IP6K2', 'score': 11.26}, {'connected_gene': 'TREX1', 'score': 10.46}, {'connected_gene': 'ZNF589', 'score': 10.01}, {'connected_gene': 'GC03P047875', 'score': 0.77}, {'connected_gene': 'GC03P047864', 'score': 0.44}, {'connected_gene': 'MAP4', 'score': 0.08}]
chr3 GH03I047890 47890099 47892449 0.49 [{'connected_gene': 'ZNF589', 'score': 14.8}, {'connected_gene': 'DHX30', 'score': 12.25}, {'connected_gene': 'RNU7-128P', 'score': 9.98}, {'connected_gene': 'CDC25A', 'score': 9.98}, {'connected_gene': 'NDUFB1P1', 'score': 9.98}, {'connected_gene': 'PIR47490', 'score': 0.39}, {'connected_gene': 'GC03P047875', 'score': 0.37}, {'connected_gene': 'MAP4', 'score': 0.08}]
chr3 GH03I047910 47910381 47912481 0.82 [{'connected_gene': 'ZNF589', 'score': 14.77}, {'connected_gene': 'RNU7-128P', 'score': 10.15}, {'connected_gene': 'CDC25A', 'score': 10.15}, {'connected_gene': 'NDUFB1P1', 'score': 10.15}, {'connected_gene': 'KLHL18', 'score': 4.78}, {'connected_gene': 'PIR47490', 'score': 0.44}, {'connected_gene': 'ENSG00000199591', 'score': 0.34}, {'connected_gene': 'GC03M047931', 'score': 0.34}, {'connected_gene': 'MAP4', 'score': 0.1}]
chr3 GH03I048085 48085261 48090540 2.61 [{'connected_gene': 'MAP4', 'score': 550.77}, {'connected_gene': 'ATRIP', 'score': 67.27}, {'connected_gene': 'DHX30', 'score': 53.05}, {'connected_gene': 'ZNF589', 'score': 35.25}, {'connected_gene': 'ENSG00000235236', 'score': 30.27}, {'connected_gene': 'SETD2', 'score': 27.79}, {'connected_gene': 'PTPN23', 'score': 20.42}, {'connected_gene': 'TMEM89', 'score': 19.29}, {'connected_gene': 'KLHL18', 'score': 17.09}, {'connected_gene': 'ENSG00000260236', 'score': 13.92}, {'connected_gene': 'BOLA2P2', 'score': 13.1}, {'connected_gene': 'PRKAR2A', 'score': 12.53}, {'connected_gene': 'SCAP', 'score': 12.34}, {'connected_gene': 'ELP6', 'score': 12.28}, {'connected_gene': 'NME6', 'score': 11.86}, {'connected_gene': 'MRPS18AP1', 'score': 11.69}, {'connected_gene': 'ENSG00000223343', 'score': 11.4}, {'connected_gene': 'P4HTM', 'score': 10.42}, {'connected_gene': 'DALRD3', 'score': 9.76}, {'connected_gene': 'ENSG00000270285', 'score': 0.25}]
chr3 GH03I048012 48012601 48017644 1.62 [{'connected_gene': 'MAP4', 'score': 550.19}, {'connected_gene': 'ZNF589', 'score': 17.23}, {'connected_gene': 'RNU7-128P', 'score': 10.79}, {'connected_gene': 'NDUFB1P1', 'score': 10.79}, {'connected_gene': 'CDC25A', 'score': 10.79}, {'connected_gene': 'IP6K2', 'score': 6.76}, {'connected_gene': 'NME6', 'score': 3.7}, {'connected_gene': 'ENSG00000270285', 'score': 0.34}, {'connected_gene': 'VPS26BP1', 'score': 0.23}]
chr3 GH03I048077 48077911 48078060 0.38 [{'connected_gene': 'MAP4', 'score': 0.39}, {'connected_gene': 'ENSG00000270285', 'score': 0.28}]
chr3 GH03I048022 48022601 48022800 0.2 [{'connected_gene': 'KLHL18', 'score': 4.83}, {'connected_gene': 'ENSG00000270285', 'score': 0.37}, {'connected_gene': 'VPS26BP1', 'score': 0.21}, {'connected_gene': 'MAP4', 'score': 0.2}]
chr3 GH03I047474 47474401 47477175 2.07 [{'connected_gene': 'SCAP', 'score': 557.14}, {'connected_gene': 'GC03P047477', 'score': 550.77}, {'connected_gene': 'LOC105377073', 'score': 550.77}, {'connected_gene': 'TREX1', 'score': 10.45}, {'connected_gene': 'ZNF589', 'score': 9.98}, {'connected_gene': 'NBEAL2', 'score': 9.98}, {'connected_gene': 'MAP4', 'score': 4.37}, {'connected_gene': 'ENSG00000276925', 'score': 0.44}]
chr3 GH03I047824 47824147 47826411 1.52 [{'connected_gene': 'DHX30', 'score': 25.84}, {'connected_gene': 'ZNF589', 'score': 13.31}, {'connected_gene': 'MIR1226', 'score': 13.15}, {'connected_gene': 'MAP4', 'score': 12.88}, {'connected_gene': 'FCF1P2', 'score': 12.09}, {'connected_gene': 'ELP6', 'score': 11.8}, {'connected_gene': 'ENSG00000260236', 'score': 11.09}, {'connected_gene': 'CDC25A', 'score': 11.07}, {'connected_gene': 'ENSG00000274420', 'score': 0.44}, {'connected_gene': 'PIR41733', 'score': 0.37}, {'connected_gene': 'GC03P047843', 'score': 0.37}, {'connected_gene': 'GC03P047842', 'score': 0.37}, {'connected_gene': 'GC03P047845', 'score': 0.37}]
chr3 GH03I047983 47983779 47984943 0.69 [{'connected_gene': 'DHX30', 'score': 13.29}, {'connected_gene': 'RNU7-128P', 'score': 10.78}, {'connected_gene': 'NDUFB1P1', 'score': 10.78}, {'connected_gene': 'CDC25A', 'score': 10.78}, {'connected_gene': 'PTPN23', 'score': 10.35}, {'connected_gene': 'VPS26BP1', 'score': 0.34}, {'connected_gene': 'ENSG00000270285', 'score': 0.23}, {'connected_gene': 'MAP4', 'score': 0.15}]
chr3 GH03I048033 48033601 48035600 1.08 [{'connected_gene': 'RNU7-128P', 'score': 10.69}, {'connected_gene': 'NDUFB1P1', 'score': 10.69}, {'connected_gene': 'CDC25A', 'score': 10.68}, {'connected_gene': 'KLHL18', 'score': 4.91}, {'connected_gene': 'ENSG00000270285', 'score': 0.77}, {'connected_gene': 'MAP4', 'score': 0.23}, {'connected_gene': 'VPS26BP1', 'score': 0.19}]
chr3 GH03I047989 47989552 47990622 0.82 [{'connected_gene': 'RNU7-128P', 'score': 10.53}, {'connected_gene': 'NDUFB1P1', 'score': 10.53}, {'connected_gene': 'CDC25A', 'score': 10.53}, {'connected_gene': 'VPS26BP1', 'score': 0.31}, {'connected_gene': 'ENSG00000270285', 'score': 0.25}, {'connected_gene': 'MAP4', 'score': 0.15}]
chr3 GH03I047961 47961577 47962483 0.72 [{'connected_gene': 'VPS26BP1', 'score': 550.77}, {'connected_gene': 'CDC25A', 'score': 10.61}, {'connected_gene': 'RNU7-128P', 'score': 10.56}, {'connected_gene': 'NDUFB1P1', 'score': 10.56}, {'connected_gene': 'DHX30', 'score': 10.49}, {'connected_gene': 'ENSG00000270285', 'score': 0.18}, {'connected_gene': 'MAP4', 'score': 0.13}]
chr3 GH03I048059 48059001 48059399 0.31 [{'connected_gene': 'ENSG00000270285', 'score': 0.37}, {'connected_gene': 'MAP4', 'score': 0.29}]
chr3 GH03I048038 48038402 48041339 1.14 [{'connected_gene': 'ENSG00000270285', 'score': 550.77}, {'connected_gene': 'DHX30', 'score': 13.27}, {'connected_gene': 'BOLA2P2', 'score': 12.09}, {'connected_gene': 'FCF1P2', 'score': 11.95}, {'connected_gene': 'ENSG00000235236', 'score': 11.29}, {'connected_gene': 'SETD2', 'score': 10.67}, {'connected_gene': 'PTPN23', 'score': 10.35}, {'connected_gene': 'CDC25A', 'score': 10.27}, {'connected_gene': 'RNU7-128P', 'score': 10.26}, {'connected_gene': 'NDUFB1P1', 'score': 10.26}, {'connected_gene': 'IP6K2', 'score': 3.97}, {'connected_gene': 'MAP4', 'score': 0.25}]
chr3 GH03I048017 48017806 48020366 0.8 [{'connected_gene': 'ENSG00000270285', 'score': 0.34}, {'connected_gene': 'VPS26BP1', 'score': 0.22}, {'connected_gene': 'MAP4', 'score': 0.19}]

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