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
ENST00000298894 [[93648540, 93650707], [93650903, 93651058], [93651154, 93651273]] [[93649531, 93650587]]
ENST00000556883 [[93648543, 93650707], [93650903, 93651268]] [[93649531, 93650587]]
NM_022151 [[93648540, 93650707], [93650903, 93651058], [93651154, 93651249]] [[93649531, 93650587]]
Promoter
Chrom Start End Description
chr14 93650550 93650554 CAGE_peak_2_at_MOAP1_5end
chr14 93651186 93651265 CAGE_peak_1_at_MOAP1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr14 GH14I093205 93205662 93208669 2.07 [{'connected_gene': 'GON7', 'score': 557.94}, {'connected_gene': 'UBR7', 'score': 550.77}, {'connected_gene': 'BTBD7', 'score': 25.8}, {'connected_gene': 'TMEM251', 'score': 12.76}, {'connected_gene': 'MOAP1', 'score': 12.76}, {'connected_gene': 'ENSG00000240096', 'score': 0.37}, {'connected_gene': 'ENSG00000259066', 'score': 0.34}]
chr14 GH14I093174 93174036 93174185 0.75 [{'connected_gene': 'OTUB2', 'score': 4.44}, {'connected_gene': 'MOAP1', 'score': 0.39}, {'connected_gene': 'ENSG00000258595', 'score': 0.28}]
chr14 GH14I093183 93183475 93186555 2.02 [{'connected_gene': 'MOAP1', 'score': 555.89}, {'connected_gene': 'TMEM251', 'score': 550.77}, {'connected_gene': 'ENSG00000259066', 'score': 550.77}, {'connected_gene': 'BTBD7', 'score': 13.52}, {'connected_gene': 'GOLGA5', 'score': 10.95}, {'connected_gene': 'DDX24', 'score': 10.05}, {'connected_gene': 'UBR7', 'score': 0.34}]
chr14 GH14I093533 93533261 93534353 1.03 [{'connected_gene': 'UNC79', 'score': 9.78}, {'connected_gene': 'BTBD7', 'score': 6.72}, {'connected_gene': 'TMEM251', 'score': 6.42}, {'connected_gene': 'MOAP1', 'score': 2.58}, {'connected_gene': 'GC14P093473', 'score': 0.21}, {'connected_gene': 'ENSG00000277826', 'score': 0.15}]
chr14 GH14I093230 93230887 93232230 1.04 [{'connected_gene': 'ITPK1', 'score': 1.87}, {'connected_gene': 'MOAP1', 'score': 1.35}, {'connected_gene': 'RPL18AP1', 'score': 0.44}, {'connected_gene': 'RPL36AP4', 'score': 0.39}]
chr14 GH14I093112 93112416 93117469 2.16 [{'connected_gene': 'ITPK1', 'score': 579.17}, {'connected_gene': 'MOAP1', 'score': 10.68}, {'connected_gene': 'TMEM251', 'score': 10.67}, {'connected_gene': 'GC14P093068', 'score': 0.25}, {'connected_gene': 'ITPK1-AS1', 'score': 0.25}]
chr14 GH14I093168 93168287 93169536 0.62 [{'connected_gene': 'ITPK1', 'score': 7.32}, {'connected_gene': 'MOAP1', 'score': 0.37}, {'connected_gene': 'ENSG00000258595', 'score': 0.29}]
chr14 GH14I093006 93006178 93010778 1.5 [{'connected_gene': 'ITPK1', 'score': 19.52}, {'connected_gene': 'TMEM251', 'score': 10.68}, {'connected_gene': 'MOAP1', 'score': 10.68}, {'connected_gene': 'RIN3', 'score': 4.5}, {'connected_gene': 'UNC79', 'score': 3.78}, {'connected_gene': 'GC14P093068', 'score': 0.22}, {'connected_gene': 'ITPK1-AS1', 'score': 0.22}, {'connected_gene': 'PIR52280', 'score': 0.19}]
chr14 GH14I093128 93128587 93129764 0.71 [{'connected_gene': 'ITPK1', 'score': 17.38}, {'connected_gene': 'TMEM251', 'score': 11.21}, {'connected_gene': 'MOAP1', 'score': 11.21}, {'connected_gene': 'CYB5AP3', 'score': 0.44}, {'connected_gene': 'GC14P093119', 'score': 0.39}]
chr14 GH14I093098 93098550 93108691 1.42 [{'connected_gene': 'ITPK1', 'score': 27.49}, {'connected_gene': 'TMEM251', 'score': 14.21}, {'connected_gene': 'ITPK1-AS1', 'score': 12.98}, {'connected_gene': 'MOAP1', 'score': 11.47}, {'connected_gene': 'UNC79', 'score': 1.85}, {'connected_gene': 'GC14P093068', 'score': 0.28}]
chr14 GH14I093178 93178156 93178305 0.79 [{'connected_gene': 'COX8C', 'score': 9.49}, {'connected_gene': 'MOAP1', 'score': 0.44}, {'connected_gene': 'ENSG00000258595', 'score': 0.26}]
chr14 GH14I093186 93186596 93186745 0.31 [{'connected_gene': 'TMEM251', 'score': 550.77}, {'connected_gene': 'MOAP1', 'score': 550.77}, {'connected_gene': 'ENSG00000259066', 'score': 550.77}, {'connected_gene': 'UBR7', 'score': 0.34}]
chr14 GH14I093110 93110474 93110932 0.49 [{'connected_gene': 'TMEM251', 'score': 11.49}, {'connected_gene': 'MOAP1', 'score': 11.49}, {'connected_gene': 'ITPK1', 'score': 0.44}, {'connected_gene': 'GC14P093068', 'score': 0.26}, {'connected_gene': 'ITPK1-AS1', 'score': 0.26}]
chr14 GH14I093010 93010955 93014721 1.22 [{'connected_gene': 'TMEM251', 'score': 10.67}, {'connected_gene': 'MOAP1', 'score': 10.67}, {'connected_gene': 'ITPK1', 'score': 7.99}, {'connected_gene': 'GC14P093068', 'score': 0.23}, {'connected_gene': 'ITPK1-AS1', 'score': 0.23}, {'connected_gene': 'PIR52280', 'score': 0.19}]
chr14 GH14I093127 93126779 93127501 0.2 [{'connected_gene': 'TMEM251', 'score': 11.21}, {'connected_gene': 'MOAP1', 'score': 11.21}, {'connected_gene': 'ITPK1', 'score': 8.76}, {'connected_gene': 'GC14P093119', 'score': 0.44}, {'connected_gene': 'CYB5AP3', 'score': 0.39}]
chr14 GH14I093126 93126176 93126325 0.2 [{'connected_gene': 'TMEM251', 'score': 11.21}, {'connected_gene': 'MOAP1', 'score': 11.21}, {'connected_gene': 'GC14P093119', 'score': 0.44}, {'connected_gene': 'CYB5AP3', 'score': 0.39}]
chr14 GH14I093132 93132556 93134514 1.2 [{'connected_gene': 'TMEM251', 'score': 11.22}, {'connected_gene': 'MOAP1', 'score': 11.22}, {'connected_gene': 'CHGA', 'score': 10.7}, {'connected_gene': 'ITPK1', 'score': 9.7}, {'connected_gene': 'CYB5AP3', 'score': 0.77}, {'connected_gene': 'GC14P093119', 'score': 0.39}]
chr14 GH14I093135 93135076 93136272 0.9 [{'connected_gene': 'TMEM251', 'score': 11.18}, {'connected_gene': 'MOAP1', 'score': 11.18}, {'connected_gene': 'CHGA', 'score': 10.85}, {'connected_gene': 'ITPK1', 'score': 5.24}, {'connected_gene': 'CYB5AP3', 'score': 0.77}, {'connected_gene': 'GC14P093119', 'score': 0.37}]
chr14 GH14I093425 93425027 93425416 0.22 [{'connected_gene': 'TMEM251', 'score': 3.78}, {'connected_gene': 'MOAP1', 'score': 1.37}, {'connected_gene': 'RNU6-1258P', 'score': 0.39}, {'connected_gene': 'ENSG00000202306', 'score': 0.31}, {'connected_gene': 'GC14M093398', 'score': 0.31}, {'connected_gene': 'UNC79', 'score': 0.16}]
chr14 GH14I092844 92844224 92844470 0.48 [{'connected_gene': 'TMEM251', 'score': 28.98}, {'connected_gene': 'UNC79', 'score': 6.3}, {'connected_gene': 'RIN3', 'score': 5.34}, {'connected_gene': 'MOAP1', 'score': 2.76}, {'connected_gene': 'BTBD7', 'score': 2.33}, {'connected_gene': 'GON7', 'score': 1.59}, {'connected_gene': 'GC14P092879', 'score': 0.29}, {'connected_gene': 'GC14P092880', 'score': 0.29}, {'connected_gene': 'GC14P092878', 'score': 0.29}, {'connected_gene': 'PIR36925', 'score': 0.29}, {'connected_gene': 'GOLGA5', 'score': 0.23}, {'connected_gene': 'GC14P092353', 'score': 0.04}]
chr14 GH14I092862 92862475 92862664 0.4 [{'connected_gene': 'TMEM251', 'score': 27.38}, {'connected_gene': 'UNC79', 'score': 5.33}, {'connected_gene': 'MOAP1', 'score': 3.63}, {'connected_gene': 'RIN3', 'score': 3.34}, {'connected_gene': 'BTBD7', 'score': 2.1}, {'connected_gene': 'GON7', 'score': 1.86}, {'connected_gene': 'GC14P092879', 'score': 0.39}, {'connected_gene': 'GC14P092880', 'score': 0.39}, {'connected_gene': 'GC14P092878', 'score': 0.39}, {'connected_gene': 'PIR36925', 'score': 0.39}, {'connected_gene': 'GOLGA5', 'score': 0.2}, {'connected_gene': 'GC14P092353', 'score': 0.03}]
chr14 GH14I093527 93527352 93527682 0.77 [{'connected_gene': 'TMEM251', 'score': 13.28}, {'connected_gene': 'UNC79', 'score': 6.31}, {'connected_gene': 'MOAP1', 'score': 3.09}, {'connected_gene': 'BTBD7', 'score': 1.78}, {'connected_gene': 'GC14P093473', 'score': 0.23}, {'connected_gene': 'ENSG00000277826', 'score': 0.14}]
chr14 GH14I092866 92866311 92866569 0.4 [{'connected_gene': 'TMEM251', 'score': 23.43}, {'connected_gene': 'BTBD7', 'score': 12.1}, {'connected_gene': 'TRIP11', 'score': 10.73}, {'connected_gene': 'UNC79', 'score': 4.08}, {'connected_gene': 'MOAP1', 'score': 3.79}, {'connected_gene': 'RIN3', 'score': 3.22}, {'connected_gene': 'GON7', 'score': 1.88}, {'connected_gene': 'GC14P092879', 'score': 0.39}, {'connected_gene': 'GC14P092880', 'score': 0.39}, {'connected_gene': 'GC14P092878', 'score': 0.39}, {'connected_gene': 'PIR36925', 'score': 0.39}, {'connected_gene': 'GOLGA5', 'score': 0.19}, {'connected_gene': 'GC14P092353', 'score': 0.03}]
chr14 GH14I092784 92784940 92786813 1.16 [{'connected_gene': 'TMEM251', 'score': 9.55}, {'connected_gene': 'GOLGA5', 'score': 5.47}, {'connected_gene': 'CPSF2', 'score': 5.04}, {'connected_gene': 'SLC24A4', 'score': 3.16}, {'connected_gene': 'MOAP1', 'score': 1.72}, {'connected_gene': 'RIN3', 'score': 1.58}, {'connected_gene': 'GON7', 'score': 1.17}, {'connected_gene': 'LGMN', 'score': 0.28}, {'connected_gene': 'GC14P092353', 'score': 0.04}]
chr14 GH14I093072 93072451 93075816 1.47 [{'connected_gene': 'TMEM251', 'score': 7.61}, {'connected_gene': 'ITPK1', 'score': 5.8}, {'connected_gene': 'UNC79', 'score': 5.48}, {'connected_gene': 'MOAP1', 'score': 2.5}, {'connected_gene': 'BTBD7', 'score': 1.9}, {'connected_gene': 'GC14P093068', 'score': 0.44}, {'connected_gene': 'ITPK1-AS1', 'score': 0.44}]
chr14 GH14I092723 92723409 92727272 1.34 [{'connected_gene': 'TMEM251', 'score': 26.67}, {'connected_gene': 'SLC24A4', 'score': 9.94}, {'connected_gene': 'RIN3', 'score': 7.81}, {'connected_gene': 'MOAP1', 'score': 3.84}, {'connected_gene': 'GON7', 'score': 1.85}, {'connected_gene': 'LGMN', 'score': 0.34}, {'connected_gene': 'GC14P092700', 'score': 0.31}, {'connected_gene': 'GC14P092353', 'score': 0.05}]
chr14 GH14I092727 92727426 92727690 0.47 [{'connected_gene': 'TMEM251', 'score': 6.61}, {'connected_gene': 'SLC24A4', 'score': 3.38}, {'connected_gene': 'RIN3', 'score': 3.0}, {'connected_gene': 'MOAP1', 'score': 1.92}, {'connected_gene': 'LGMN', 'score': 0.34}, {'connected_gene': 'GC14P092700', 'score': 0.31}, {'connected_gene': 'GC14P092353', 'score': 0.05}]
chr14 GH14I092846 92846400 92847800 1.36 [{'connected_gene': 'TMEM251', 'score': 35.85}, {'connected_gene': 'CHGA', 'score': 11.46}, {'connected_gene': 'UNC79', 'score': 6.67}, {'connected_gene': 'RIN3', 'score': 5.24}, {'connected_gene': 'MOAP1', 'score': 3.8}, {'connected_gene': 'BTBD7', 'score': 2.75}, {'connected_gene': 'GON7', 'score': 1.73}, {'connected_gene': 'GC14P092879', 'score': 0.29}, {'connected_gene': 'GC14P092880', 'score': 0.29}, {'connected_gene': 'GC14P092878', 'score': 0.29}, {'connected_gene': 'PIR36925', 'score': 0.29}, {'connected_gene': 'GOLGA5', 'score': 0.23}, {'connected_gene': 'GC14P092353', 'score': 0.04}]
chr14 GH14I093169 93169636 93170032 0.49 [{'connected_gene': 'CHGA', 'score': 10.39}, {'connected_gene': 'COX8C', 'score': 9.74}, {'connected_gene': 'ITPK1', 'score': 8.42}, {'connected_gene': 'MOAP1', 'score': 0.37}, {'connected_gene': 'ENSG00000258595', 'score': 0.29}]
chr14 GH14I092995 92995044 92996119 0.43 [{'connected_gene': 'CHGA', 'score': 10.99}, {'connected_gene': 'TMEM251', 'score': 10.3}, {'connected_gene': 'MOAP1', 'score': 10.3}, {'connected_gene': 'PIR52280', 'score': 0.22}, {'connected_gene': 'GC14P093068', 'score': 0.19}, {'connected_gene': 'ITPK1-AS1', 'score': 0.19}, {'connected_gene': 'ITPK1', 'score': 0.13}]
chr14 GH14I093149 93149462 93152333 1.05 [{'connected_gene': 'ENSG00000258595', 'score': 0.39}, {'connected_gene': 'MOAP1', 'score': 0.29}]
chr14 GH14I093139 93139200 93139600 1.06 [{'connected_gene': 'ENSG00000258595', 'score': 550.77}, {'connected_gene': 'CYB5AP3', 'score': 550.77}, {'connected_gene': 'ITPK1', 'score': 17.53}, {'connected_gene': 'MOAP1', 'score': 0.25}]
chr14 GH14I093137 93137772 93138651 0.8 [{'connected_gene': 'ENSG00000258595', 'score': 550.77}, {'connected_gene': 'CYB5AP3', 'score': 550.77}, {'connected_gene': 'ITPK1', 'score': 12.46}, {'connected_gene': 'TMEM251', 'score': 11.18}, {'connected_gene': 'MOAP1', 'score': 11.18}, {'connected_gene': 'CHGA', 'score': 10.86}]

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