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
ENST00000233838 [[85771845, 85777249], [85777677, 85777873], [85778047, 85778195], [85778602, 85778733], [85778934, 85779104], [85779538, 85779690], [85780061, 85780193], [85780354, 85780620], [85781265, 85781429], [85782606, 85782713], [85783304, 85783383], [85785562, 85785728], [85786039, 85786198], [85787937, 85788108], [85788508, 85788632]] [[85777056, 85777249], [85777677, 85777873], [85778047, 85778195], [85778602, 85778733], [85778934, 85779104], [85779538, 85779690], [85780061, 85780193], [85780354, 85780620], [85781265, 85781429], [85782606, 85782713], [85783304, 85783383], [85785562, 85785728], [85786039, 85786198], [85787937, 85788108], [85788508, 85788551]]
ENST00000465637 [[85774742, 85775127], [85786128, 85786198], [85788508, 85788616]] None
ENST00000430215 [[85776952, 85777249], [85777677, 85777873], [85778047, 85778195], [85778602, 85778733], [85778934, 85779104], [85779538, 85779690], [85780061, 85780193], [85780354, 85780620], [85781265, 85781429], [85782606, 85782713], [85783304, 85783383], [85785562, 85785728], [85786039, 85786198], [85788508, 85788655]] [[85777056, 85777249], [85777677, 85777873], [85778047, 85778195], [85778602, 85778733], [85778934, 85779104], [85779538, 85779690], [85780061, 85780193], [85780354, 85780620], [85781265, 85781429], [85782606, 85782713], [85783304, 85783383], [85785562, 85785728], [85786039, 85786198], [85788508, 85788551]]
ENST00000473665 [[85779601, 85779690], [85780061, 85780193], [85780354, 85780620], [85781265, 85781647]] None
ENST00000482662 [[85780045, 85780193], [85780354, 85780926]] None
ENST00000423570 [[85781966, 85782713], [85783304, 85783383], [85785661, 85785785], [85786068, 85786198], [85787937, 85788108], [85788508, 85788596]] [[85785757, 85785785], [85786068, 85786198], [85787937, 85788108], [85788508, 85788551]]
ENST00000421496 [[85783304, 85783383], [85785562, 85785785], [85786068, 85786198], [85788508, 85788616]] [[85785757, 85785785], [85786068, 85786198], [85788508, 85788551]]
ENST00000428479 [[85783340, 85783383], [85785562, 85785785], [85786039, 85786198], [85788508, 85788616]] [[85785765, 85785785], [85786039, 85786198], [85788508, 85788551]]
ENST00000481541 [[85785706, 85786198], [85788508, 85788616]] None
ENST00000496962 [[85785847, 85786198], [85787937, 85788108], [85788508, 85788670]] None
NM_000821 [[85771842, 85777249], [85777677, 85777873], [85778047, 85778195], [85778602, 85778733], [85778934, 85779104], [85779538, 85779690], [85780061, 85780193], [85780354, 85780620], [85781265, 85781429], [85782606, 85782713], [85783304, 85783383], [85785562, 85785728], [85786039, 85786198], [85787937, 85788108], [85788508, 85788657]] [[85777056, 85777249], [85777677, 85777873], [85778047, 85778195], [85778602, 85778733], [85778934, 85779104], [85779538, 85779690], [85780061, 85780193], [85780354, 85780620], [85781265, 85781429], [85782606, 85782713], [85783304, 85783383], [85785562, 85785728], [85786039, 85786198], [85787937, 85788108], [85788508, 85788551]]
NM_001142269 [[85771842, 85777249], [85777677, 85777873], [85778047, 85778195], [85778602, 85778733], [85778934, 85779104], [85779538, 85779690], [85780061, 85780193], [85780354, 85780620], [85781265, 85781429], [85782606, 85782713], [85783304, 85783383], [85785562, 85785728], [85786039, 85786198], [85788508, 85788657]] [[85777056, 85777249], [85777677, 85777873], [85778047, 85778195], [85778602, 85778733], [85778934, 85779104], [85779538, 85779690], [85780061, 85780193], [85780354, 85780620], [85781265, 85781429], [85782606, 85782713], [85783304, 85783383], [85785562, 85785728], [85786039, 85786198], [85788508, 85788551]]
NM_001311312 [[85785847, 85786198], [85787937, 85788108], [85788508, 85788632]] [[85786013, 85786198], [85787937, 85788108], [85788508, 85788551]]
Promoter
Chrom Start End Description
chr2 85788551 85788601 CAGE_peak_2_at_GGCX_5end
chr2 85788605 85788629 CAGE_peak_1_at_GGCX_5end
chr2 85788637 85788649 CAGE_peak_3_at_GGCX_5end
chr2 85788652 85788661 CAGE_peak_4_at_GGCX_5end
chr2 85788941 85788961 CAGE_peak_6_at_GGCX_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I085560 85560104 85562401 2.04 [{'connected_gene': 'VAMP8', 'score': 572.1}, {'connected_gene': 'GGCX', 'score': 550.77}, {'connected_gene': 'USP39', 'score': 16.06}, {'connected_gene': 'SH2D6', 'score': 12.56}, {'connected_gene': 'CAPG', 'score': 12.56}, {'connected_gene': 'TMEM150A', 'score': 10.59}, {'connected_gene': 'ELMOD3', 'score': 10.4}, {'connected_gene': 'RETSAT', 'score': 10.4}, {'connected_gene': 'SNORD94', 'score': 10.19}, {'connected_gene': 'GC02P085546', 'score': 0.37}]
chr2 GH02I085510 85510801 85511800 0.69 [{'connected_gene': 'VAMP8', 'score': 13.4}, {'connected_gene': 'GGCX', 'score': 9.08}, {'connected_gene': 'RPSAP22', 'score': 0.37}, {'connected_gene': 'GC02M085532', 'score': 0.34}]
chr2 GH02I085575 85575989 85580699 2.13 [{'connected_gene': 'VAMP8', 'score': 571.5}, {'connected_gene': 'TMEM150A', 'score': 12.42}, {'connected_gene': 'USP39', 'score': 12.42}, {'connected_gene': 'GGCX', 'score': 11.78}, {'connected_gene': 'MAT2A', 'score': 11.27}, {'connected_gene': 'SH2D6', 'score': 11.04}, {'connected_gene': 'CAPG', 'score': 11.04}, {'connected_gene': 'ELMOD3', 'score': 10.3}, {'connected_gene': 'RETSAT', 'score': 10.3}, {'connected_gene': 'VAMP5', 'score': 0.44}, {'connected_gene': 'RN7SL126P', 'score': 0.39}, {'connected_gene': 'GC02M085574', 'score': 0.39}]
chr2 GH02I085594 85594054 85597726 2.01 [{'connected_gene': 'RNF181', 'score': 555.64}, {'connected_gene': 'GC02M085595', 'score': 550.77}, {'connected_gene': 'USP39', 'score': 24.77}, {'connected_gene': 'VAMP8', 'score': 11.07}, {'connected_gene': 'GGCX', 'score': 10.05}, {'connected_gene': 'VAMP5', 'score': 4.78}]
chr2 GH02I085587 85587211 85592442 1.49 [{'connected_gene': 'GGCX', 'score': 24.36}, {'connected_gene': 'VAMP8', 'score': 22.58}, {'connected_gene': 'C2orf68', 'score': 12.07}, {'connected_gene': 'USP39', 'score': 11.95}, {'connected_gene': 'CHMP3', 'score': 4.36}, {'connected_gene': 'VAMP5', 'score': 2.19}, {'connected_gene': 'RNF181', 'score': 0.44}]
chr2 GH02I085523 85523033 85525716 1.24 [{'connected_gene': 'GGCX', 'score': 14.79}, {'connected_gene': 'VAMP8', 'score': 13.64}, {'connected_gene': 'RNU7-64P', 'score': 12.13}, {'connected_gene': 'RN7SL251P', 'score': 12.13}, {'connected_gene': 'SH2D6', 'score': 11.45}, {'connected_gene': 'CAPG', 'score': 11.45}, {'connected_gene': 'ELMOD3', 'score': 10.23}, {'connected_gene': 'RETSAT', 'score': 10.23}, {'connected_gene': 'GC02M085532', 'score': 0.44}, {'connected_gene': 'RPSAP22', 'score': 0.29}]
chr2 GH02I085516 85516208 85517985 1.22 [{'connected_gene': 'GGCX', 'score': 15.94}, {'connected_gene': 'RN7SL251P', 'score': 12.0}, {'connected_gene': 'RNU7-64P', 'score': 11.99}, {'connected_gene': 'MAT2A', 'score': 11.77}, {'connected_gene': 'ELMOD3', 'score': 10.76}, {'connected_gene': 'RETSAT', 'score': 10.76}, {'connected_gene': 'GC02M085532', 'score': 0.37}, {'connected_gene': 'RPSAP22', 'score': 0.31}]
chr2 GH02I085519 85519376 85520585 0.31 [{'connected_gene': 'GGCX', 'score': 12.65}, {'connected_gene': 'RNU7-64P', 'score': 11.99}, {'connected_gene': 'RN7SL251P', 'score': 11.99}, {'connected_gene': 'USP39', 'score': 11.96}, {'connected_gene': 'ELMOD3', 'score': 10.96}, {'connected_gene': 'RETSAT', 'score': 10.96}, {'connected_gene': 'GC02M085532', 'score': 0.39}, {'connected_gene': 'RPSAP22', 'score': 0.31}]
chr2 GH02I085600 85600941 85609632 2.02 [{'connected_gene': 'TMEM150A', 'score': 550.77}, {'connected_gene': 'USP39', 'score': 25.29}, {'connected_gene': 'VAMP8', 'score': 22.26}, {'connected_gene': 'RETSAT', 'score': 14.72}, {'connected_gene': 'GGCX', 'score': 11.49}, {'connected_gene': 'SH2D6', 'score': 11.24}, {'connected_gene': 'CAPG', 'score': 11.24}, {'connected_gene': 'RNU1-38P', 'score': 10.44}, {'connected_gene': 'ELMOD3', 'score': 10.28}, {'connected_gene': 'C2orf68', 'score': 0.44}]
chr2 GH02I085582 85582859 85586804 2.53 [{'connected_gene': 'VAMP5', 'score': 552.38}, {'connected_gene': 'VAMP8', 'score': 17.68}, {'connected_gene': 'GGCX', 'score': 15.36}, {'connected_gene': 'SH2D6', 'score': 11.04}, {'connected_gene': 'CAPG', 'score': 11.04}, {'connected_gene': 'MAT2A', 'score': 10.33}, {'connected_gene': 'ELMOD3', 'score': 9.42}, {'connected_gene': 'RETSAT', 'score': 9.42}, {'connected_gene': 'USP39', 'score': 5.08}, {'connected_gene': 'RNF181', 'score': 0.39}]
chr2 GH02I085554 85554371 85556140 0.43 [{'connected_gene': 'USP39', 'score': 23.14}, {'connected_gene': 'VAMP8', 'score': 17.75}, {'connected_gene': 'SH2D6', 'score': 12.57}, {'connected_gene': 'CAPG', 'score': 12.57}, {'connected_gene': 'GGCX', 'score': 11.85}, {'connected_gene': 'TMEM150A', 'score': 10.58}, {'connected_gene': 'ELMOD3', 'score': 10.41}, {'connected_gene': 'RETSAT', 'score': 10.41}, {'connected_gene': 'GC02P085546', 'score': 0.44}]
chr2 GH02I085615 85615379 85617883 2.04 [{'connected_gene': 'USP39', 'score': 595.67}, {'connected_gene': 'C2orf68', 'score': 14.02}, {'connected_gene': 'LOC100996506', 'score': 11.72}, {'connected_gene': 'LOC105374845', 'score': 10.37}, {'connected_gene': 'ELMOD3', 'score': 10.23}, {'connected_gene': 'SNORD94', 'score': 9.68}, {'connected_gene': 'GGCX', 'score': 7.48}, {'connected_gene': 'GC02P085634', 'score': 0.37}]
chr2 GH02I085548 85548476 85552506 1.28 [{'connected_gene': 'USP39', 'score': 19.56}, {'connected_gene': 'GGCX', 'score': 17.33}, {'connected_gene': 'VAMP8', 'score': 15.85}, {'connected_gene': 'SH2D6', 'score': 12.57}, {'connected_gene': 'CAPG', 'score': 12.57}, {'connected_gene': 'TGOLN2', 'score': 11.06}, {'connected_gene': 'TMEM150A', 'score': 11.0}, {'connected_gene': 'RNU7-64P', 'score': 10.85}, {'connected_gene': 'RN7SL251P', 'score': 10.85}, {'connected_gene': 'ELMOD3', 'score': 10.41}, {'connected_gene': 'RETSAT', 'score': 10.41}, {'connected_gene': 'TMSB10', 'score': 4.67}, {'connected_gene': 'GC02P085546', 'score': 0.77}]
chr2 GH02I085502 85502283 85508017 1.26 [{'connected_gene': 'USP39', 'score': 23.89}, {'connected_gene': 'RNU7-64P', 'score': 12.25}, {'connected_gene': 'RN7SL251P', 'score': 12.25}, {'connected_gene': 'MAT2A', 'score': 11.5}, {'connected_gene': 'TMEM150A', 'score': 10.65}, {'connected_gene': 'SH2D6', 'score': 10.62}, {'connected_gene': 'CAPG', 'score': 10.62}, {'connected_gene': 'ELMOD3', 'score': 9.91}, {'connected_gene': 'RETSAT', 'score': 9.91}, {'connected_gene': 'VAMP5', 'score': 6.83}, {'connected_gene': 'VAMP8', 'score': 6.71}, {'connected_gene': 'GGCX', 'score': 4.84}, {'connected_gene': 'RPSAP22', 'score': 0.39}, {'connected_gene': 'GC02M085532', 'score': 0.31}]
chr2 GH02I085467 85467560 85473314 1.36 [{'connected_gene': 'RNU7-64P', 'score': 12.96}, {'connected_gene': 'RN7SL251P', 'score': 12.96}, {'connected_gene': 'MAT2A', 'score': 11.36}, {'connected_gene': 'SH2D6', 'score': 11.13}, {'connected_gene': 'CAPG', 'score': 11.13}, {'connected_gene': 'ELMOD3', 'score': 10.56}, {'connected_gene': 'RETSAT', 'score': 10.56}, {'connected_gene': 'VAMP8', 'score': 4.85}, {'connected_gene': 'GGCX', 'score': 4.82}, {'connected_gene': 'ENSG00000199936', 'score': 0.39}, {'connected_gene': 'GC02M085461', 'score': 0.39}, {'connected_gene': 'RPSAP22', 'score': 0.34}]
chr2 GH02I085550 85547498 85547554 0.69 [{'connected_gene': 'GC02P085546', 'score': 550.77}, {'connected_gene': 'VAMP8', 'score': 17.7}, {'connected_gene': 'SH2D6', 'score': 12.25}, {'connected_gene': 'CAPG', 'score': 12.25}, {'connected_gene': 'TMEM150A', 'score': 10.99}, {'connected_gene': 'USP39', 'score': 10.99}, {'connected_gene': 'RNU7-64P', 'score': 10.65}, {'connected_gene': 'RN7SL251P', 'score': 10.65}, {'connected_gene': 'GGCX', 'score': 0.39}]
chr2 GH02I085549 85547686 85547827 0.69 [{'connected_gene': 'GC02P085546', 'score': 550.77}, {'connected_gene': 'VAMP8', 'score': 14.87}, {'connected_gene': 'SH2D6', 'score': 12.25}, {'connected_gene': 'CAPG', 'score': 12.25}, {'connected_gene': 'TMEM150A', 'score': 10.99}, {'connected_gene': 'USP39', 'score': 10.99}, {'connected_gene': 'RNU7-64P', 'score': 10.65}, {'connected_gene': 'RN7SL251P', 'score': 10.65}, {'connected_gene': 'GGCX', 'score': 0.39}]
chr2 GH02I085536 85536321 85543199 2.57 [{'connected_gene': 'PIR40998', 'score': 550.77}, {'connected_gene': 'PIR39955', 'score': 550.77}, {'connected_gene': 'GC02M085541', 'score': 550.77}, {'connected_gene': 'MAT2A', 'score': 550.77}, {'connected_gene': 'PARTICL', 'score': 550.77}, {'connected_gene': 'SNORD94', 'score': 69.04}, {'connected_gene': 'USP39', 'score': 60.19}, {'connected_gene': 'C2orf68', 'score': 43.46}, {'connected_gene': 'LOC100996506', 'score': 29.83}, {'connected_gene': 'ELMOD3', 'score': 28.72}, {'connected_gene': 'KDM3A', 'score': 26.41}, {'connected_gene': 'VAMP8', 'score': 18.58}, {'connected_gene': 'GGCX', 'score': 17.58}, {'connected_gene': 'SH2D6', 'score': 13.9}, {'connected_gene': 'CAPG', 'score': 12.79}, {'connected_gene': 'RNU7-64P', 'score': 11.49}, {'connected_gene': 'RN7SL251P', 'score': 11.49}, {'connected_gene': 'TCF7L1', 'score': 9.91}, {'connected_gene': 'TMSB10', 'score': 4.67}]
chr2 GH02I085547 85547958 85548107 0.63 [{'connected_gene': 'GC02P085546', 'score': 550.77}, {'connected_gene': 'SH2D6', 'score': 12.25}, {'connected_gene': 'CAPG', 'score': 12.25}, {'connected_gene': 'USP39', 'score': 11.0}, {'connected_gene': 'TMEM150A', 'score': 10.99}, {'connected_gene': 'RNU7-64P', 'score': 10.65}, {'connected_gene': 'RN7SL251P', 'score': 10.65}, {'connected_gene': 'TMSB10', 'score': 4.67}, {'connected_gene': 'GGCX', 'score': 0.39}]
chr2 GH02I085535 85535400 85535600 0.51 [{'connected_gene': 'GC02P085534', 'score': 550.77}, {'connected_gene': 'GGCX', 'score': 11.92}, {'connected_gene': 'SH2D6', 'score': 11.51}, {'connected_gene': 'CAPG', 'score': 11.51}, {'connected_gene': 'RNU7-64P', 'score': 11.49}, {'connected_gene': 'RN7SL251P', 'score': 11.49}, {'connected_gene': 'PARTICL', 'score': 0.77}]
chr2 GH02I085545 85545938 85547167 1 [{'connected_gene': 'GC02P085546', 'score': 550.77}, {'connected_gene': 'GC02P085544', 'score': 550.77}, {'connected_gene': 'USP39', 'score': 32.72}, {'connected_gene': 'GGCX', 'score': 16.86}, {'connected_gene': 'SNORD94', 'score': 13.7}, {'connected_gene': 'KDM3A', 'score': 12.61}, {'connected_gene': 'SH2D6', 'score': 12.25}, {'connected_gene': 'CAPG', 'score': 12.25}, {'connected_gene': 'TMEM150A', 'score': 10.99}, {'connected_gene': 'RNU7-64P', 'score': 10.65}, {'connected_gene': 'RN7SL251P', 'score': 10.65}, {'connected_gene': 'ELMOD3', 'score': 10.28}, {'connected_gene': 'VAMP8', 'score': 6.59}, {'connected_gene': 'TMSB10', 'score': 4.67}]
chr2 GH02I085531 85531058 85531207 0.31 [{'connected_gene': 'GC02M085532', 'score': 550.77}, {'connected_gene': 'RNU7-64P', 'score': 11.97}, {'connected_gene': 'RN7SL251P', 'score': 11.97}, {'connected_gene': 'GGCX', 'score': 11.48}, {'connected_gene': 'ELMOD3', 'score': 10.53}, {'connected_gene': 'RETSAT', 'score': 10.53}, {'connected_gene': 'RPSAP22', 'score': 0.28}]

© 2018 bmi.sjtu.edu.cn. All rights reserved.
浙ICP备18030141号.