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
ENST00000583369 [[72744790, 72745426], [72764285, 72764375], [72764606, 72764721]] [[72744985, 72745426], [72764285, 72764375], [72764606, 72764721]]
ENST00000262613 [[72744790, 72745426], [72758150, 72758312], [72759505, 72759659], [72763074, 72763115], [72764285, 72764375], [72764606, 72765492]] [[72744985, 72745426], [72758150, 72758312], [72759505, 72759659], [72763074, 72763115], [72764285, 72764375], [72764606, 72764795]]
ENST00000413388 [[72758141, 72758312], [72759505, 72759659], [72763074, 72763115], [72764285, 72764375], [72764606, 72765435]] [[72758177, 72758312], [72759505, 72759659], [72763074, 72763115], [72764285, 72764375], [72764606, 72764795]]
ENST00000578958 [[72759168, 72759659], [72763074, 72763115], [72764285, 72764375], [72764606, 72764698]] None
ENST00000581356 [[72759566, 72759659], [72764285, 72764375], [72764606, 72764942]] [[72759566, 72759659], [72764285, 72764299]]
NM_004252 [[72744750, 72745426], [72758150, 72758312], [72759505, 72759659], [72763074, 72763115], [72764285, 72764375], [72764606, 72765499]] [[72744985, 72745426], [72758150, 72758312], [72759505, 72759659], [72763074, 72763115], [72764285, 72764375], [72764606, 72764795]]
Promoter
Chrom Start End Description
chr17 72744759 72744776 CAGE_peak_1_at_SLC9A3R1_5end
chr17 72744794 72744810 CAGE_peak_2_at_SLC9A3R1_5end
chr17 72759260 72759268 CAGE_peak_10_at_SLC9A3R1_5end
chr17 72759537 72759553 CAGE_peak_3_at_SLC9A3R1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I074783 74783502 74783651 0.2 [{'connected_gene': 'SLC9A3R1', 'score': 12.8}, {'connected_gene': 'RAB37', 'score': 12.64}, {'connected_gene': 'GRIN2C', 'score': 11.14}, {'connected_gene': 'CD300LF', 'score': 10.53}, {'connected_gene': 'TMEM104', 'score': 0.44}, {'connected_gene': 'PIR51683', 'score': 0.34}]
chr17 GH17I074782 74782273 74782871 0.31 [{'connected_gene': 'SLC9A3R1', 'score': 12.8}, {'connected_gene': 'RAB37', 'score': 12.64}, {'connected_gene': 'GRIN2C', 'score': 11.14}, {'connected_gene': 'CD300LF', 'score': 10.54}, {'connected_gene': 'TMEM104', 'score': 0.44}, {'connected_gene': 'PIR51683', 'score': 0.34}]
chr17 GH17I074739 74739798 74739881 0.2 [{'connected_gene': 'SLC9A3R1', 'score': 0.44}, {'connected_gene': 'CD300LF', 'score': 0.31}, {'connected_gene': 'RAB37', 'score': 0.2}]
chr17 GH17I074744 74744202 74746029 1.38 [{'connected_gene': 'SLC9A3R1', 'score': 0.77}, {'connected_gene': 'CD300LF', 'score': 0.29}, {'connected_gene': 'RAB37', 'score': 0.19}]
chr17 GH17I074746 74746102 74754678 2.26 [{'connected_gene': 'SLC9A3R1', 'score': 556.11}, {'connected_gene': 'LOC105371893', 'score': 550.77}, {'connected_gene': 'MIR3615', 'score': 550.77}, {'connected_gene': 'RAB37', 'score': 12.63}, {'connected_gene': 'NAT9', 'score': 10.78}, {'connected_gene': 'GC17P074757', 'score': 0.44}]
chr17 GH17I074730 74730418 74731391 0.99 [{'connected_gene': 'SUMO2', 'score': 6.92}, {'connected_gene': 'TMEM104', 'score': 3.88}, {'connected_gene': 'CD300LB', 'score': 3.32}, {'connected_gene': 'CD300C', 'score': 3.13}, {'connected_gene': 'CD300LF', 'score': 2.45}, {'connected_gene': 'CD300E', 'score': 1.64}, {'connected_gene': 'CD300LD', 'score': 1.31}, {'connected_gene': 'SLC9A3R1', 'score': 0.37}, {'connected_gene': 'RAB37', 'score': 0.21}]
chr17 GH17I074775 74775187 74777599 2.24 [{'connected_gene': 'TMEM104', 'score': 557.47}, {'connected_gene': 'NAT9', 'score': 555.97}, {'connected_gene': 'NUP85', 'score': 10.95}, {'connected_gene': 'CDR2L', 'score': 10.21}, {'connected_gene': 'SLC25A19', 'score': 10.06}, {'connected_gene': 'SLC9A3R1', 'score': 7.02}, {'connected_gene': 'RAB37', 'score': 5.69}, {'connected_gene': 'PIR52579', 'score': 0.77}, {'connected_gene': 'GC17M074773', 'score': 0.77}]
chr17 GH17I074640 74640928 74643357 1.16 [{'connected_gene': 'CD300E', 'score': 34.93}, {'connected_gene': 'CD300C', 'score': 19.73}, {'connected_gene': 'CD300LB', 'score': 19.32}, {'connected_gene': 'TMEM104', 'score': 16.51}, {'connected_gene': 'CD300LF', 'score': 14.59}, {'connected_gene': 'CD300LD', 'score': 12.73}, {'connected_gene': 'RAB37', 'score': 11.66}, {'connected_gene': 'ENSG00000236770', 'score': 10.95}, {'connected_gene': 'SLC9A3R1', 'score': 10.61}, {'connected_gene': 'NAT9', 'score': 10.42}, {'connected_gene': 'GRIN2C', 'score': 10.24}, {'connected_gene': 'GPRC5C', 'score': 9.78}, {'connected_gene': 'LOC101928343', 'score': 5.02}, {'connected_gene': 'FDXR', 'score': 4.6}, {'connected_gene': 'CD300A', 'score': 2.21}, {'connected_gene': 'TTYH2', 'score': 1.69}, {'connected_gene': 'SLC16A5', 'score': 1.68}]
chr17 GH17I074639 74639069 74640782 1.38 [{'connected_gene': 'CD300E', 'score': 43.24}, {'connected_gene': 'CD300C', 'score': 21.49}, {'connected_gene': 'CD300LB', 'score': 20.01}, {'connected_gene': 'RAB37', 'score': 17.47}, {'connected_gene': 'TMEM104', 'score': 16.14}, {'connected_gene': 'CD300LF', 'score': 15.34}, {'connected_gene': 'CD300LD', 'score': 13.2}, {'connected_gene': 'CD300A', 'score': 10.99}, {'connected_gene': 'ENSG00000236770', 'score': 10.95}, {'connected_gene': 'SLC9A3R1', 'score': 10.61}, {'connected_gene': 'NAT9', 'score': 10.42}, {'connected_gene': 'GRIN2C', 'score': 10.23}, {'connected_gene': 'GPRC5C', 'score': 9.78}, {'connected_gene': 'LOC101928343', 'score': 4.72}, {'connected_gene': 'SLC16A5', 'score': 1.83}, {'connected_gene': 'TTYH2', 'score': 1.74}]
chr17 GH17I074635 74635051 74638299 1.08 [{'connected_gene': 'CD300E', 'score': 47.17}, {'connected_gene': 'CD300C', 'score': 23.0}, {'connected_gene': 'CD300LB', 'score': 19.79}, {'connected_gene': 'CD300LF', 'score': 16.09}, {'connected_gene': 'TMEM104', 'score': 14.97}, {'connected_gene': 'CD300LD', 'score': 13.17}, {'connected_gene': 'RAB37', 'score': 11.65}, {'connected_gene': 'ENSG00000236770', 'score': 10.96}, {'connected_gene': 'SLC9A3R1', 'score': 10.6}, {'connected_gene': 'NAT9', 'score': 10.57}, {'connected_gene': 'GRIN2C', 'score': 10.23}, {'connected_gene': 'GPRC5C', 'score': 9.78}, {'connected_gene': 'LOC101928343', 'score': 5.39}, {'connected_gene': 'ENSG00000266106', 'score': 5.0}, {'connected_gene': 'MYO15B', 'score': 4.45}, {'connected_gene': 'CD300A', 'score': 3.0}, {'connected_gene': 'SLC16A5', 'score': 2.19}, {'connected_gene': 'TTYH2', 'score': 1.74}]
chr17 GH17I074784 74784479 74784842 0.23 [{'connected_gene': 'RAB37', 'score': 18.5}, {'connected_gene': 'SLC9A3R1', 'score': 12.4}, {'connected_gene': 'GRIN2C', 'score': 11.15}, {'connected_gene': 'FADS6', 'score': 11.03}, {'connected_gene': 'CD300E', 'score': 10.02}, {'connected_gene': 'GPR142', 'score': 6.39}, {'connected_gene': 'TMEM104', 'score': 0.44}, {'connected_gene': 'PIR51683', 'score': 0.34}]
chr17 GH17I074740 74740201 74743842 1.32 [{'connected_gene': 'RAB37', 'score': 3.25}, {'connected_gene': 'SLC9A3R1', 'score': 0.44}, {'connected_gene': 'CD300LF', 'score': 0.31}]
chr17 GH17I074785 74785380 74787286 0.92 [{'connected_gene': 'RAB37', 'score': 18.75}, {'connected_gene': 'CD300E', 'score': 14.96}, {'connected_gene': 'SLC9A3R1', 'score': 13.67}, {'connected_gene': 'GRIN2C', 'score': 11.15}, {'connected_gene': 'FADS6', 'score': 11.03}, {'connected_gene': 'CD300LB', 'score': 9.08}, {'connected_gene': 'TMEM104', 'score': 9.02}, {'connected_gene': 'CD300LF', 'score': 7.08}, {'connected_gene': 'CD300C', 'score': 6.87}, {'connected_gene': 'CD300A', 'score': 3.69}, {'connected_gene': 'SLC16A5', 'score': 2.22}, {'connected_gene': 'GGA3', 'score': 1.93}, {'connected_gene': 'PIR51683', 'score': 0.37}]
chr17 GH17I074790 74790801 74791926 1.12 [{'connected_gene': 'RAB37', 'score': 19.61}, {'connected_gene': 'GRIN2C', 'score': 12.62}, {'connected_gene': 'SLC9A3R1', 'score': 11.72}, {'connected_gene': 'FDXR', 'score': 11.3}, {'connected_gene': 'FADS6', 'score': 11.28}, {'connected_gene': 'OTOP3', 'score': 11.06}, {'connected_gene': 'CD300LF', 'score': 10.41}, {'connected_gene': 'TMEM104', 'score': 6.57}, {'connected_gene': 'PIR51683', 'score': 0.39}]
chr17 GH17I074736 74736214 74739540 2.29 [{'connected_gene': 'RAB37', 'score': 571.0}, {'connected_gene': 'CD300A', 'score': 5.75}, {'connected_gene': 'SLC9A3R1', 'score': 3.17}, {'connected_gene': 'DNAI2', 'score': 3.14}, {'connected_gene': 'CD300LF', 'score': 2.73}, {'connected_gene': 'CD300LB', 'score': 1.51}]
chr17 GH17I074756 74756431 74771614 1.44 [{'connected_gene': 'NT5C', 'score': 17.39}, {'connected_gene': 'NUP85', 'score': 16.22}, {'connected_gene': 'NAT9', 'score': 15.23}, {'connected_gene': 'GGA3', 'score': 11.22}, {'connected_gene': 'RAB37', 'score': 10.61}, {'connected_gene': 'SLC9A3R1', 'score': 7.28}, {'connected_gene': 'PIR52579', 'score': 0.44}, {'connected_gene': 'GC17M074773', 'score': 0.44}, {'connected_gene': 'GC17P074757', 'score': 0.44}]
chr17 GH17I074797 74797619 74799232 0.38 [{'connected_gene': 'GRIN2C', 'score': 24.63}, {'connected_gene': 'SLC9A3R1', 'score': 11.07}, {'connected_gene': 'RAB37', 'score': 10.95}, {'connected_gene': 'OTOP3', 'score': 10.75}, {'connected_gene': 'PIR51683', 'score': 0.44}, {'connected_gene': 'TMEM104', 'score': 0.34}]
chr17 GH17I074732 74732602 74733672 0.96 [{'connected_gene': 'NAT9', 'score': 33.69}, {'connected_gene': 'NUP85', 'score': 21.54}, {'connected_gene': 'NT5C', 'score': 19.44}, {'connected_gene': 'GGA3', 'score': 18.11}, {'connected_gene': 'SAP30BP', 'score': 11.54}, {'connected_gene': 'RN7SL573P', 'score': 11.34}, {'connected_gene': 'RAB37', 'score': 7.04}, {'connected_gene': 'GRIN2C', 'score': 5.74}, {'connected_gene': 'KCTD2', 'score': 1.93}, {'connected_gene': 'KIF19', 'score': 1.38}, {'connected_gene': 'FADS6', 'score': 1.34}, {'connected_gene': 'SLC9A3R1', 'score': 0.37}, {'connected_gene': 'CD300LF', 'score': 0.34}]
chr17 GH17I074778 74778047 74781560 1.46 [{'connected_gene': 'CD300LF', 'score': 19.89}, {'connected_gene': 'RAB37', 'score': 18.81}, {'connected_gene': 'SLC9A3R1', 'score': 14.05}, {'connected_gene': 'GRIN2C', 'score': 11.13}, {'connected_gene': 'TMEM104', 'score': 9.03}, {'connected_gene': 'CD300LB', 'score': 9.01}, {'connected_gene': 'CD300A', 'score': 6.63}, {'connected_gene': 'CD300C', 'score': 4.92}, {'connected_gene': 'GGA3', 'score': 2.33}, {'connected_gene': 'SLC16A5', 'score': 1.64}, {'connected_gene': 'CD300E', 'score': 1.28}, {'connected_gene': 'PIR51683', 'score': 0.34}]
chr17 GH17I074526 74526601 74534000 1.99 [{'connected_gene': 'CD300LB', 'score': 577.17}, {'connected_gene': 'CD300E', 'score': 21.89}, {'connected_gene': 'CD300LD', 'score': 21.05}, {'connected_gene': 'CD300A', 'score': 19.27}, {'connected_gene': 'CD300C', 'score': 17.85}, {'connected_gene': 'CD300LF', 'score': 14.67}, {'connected_gene': 'GPR142', 'score': 11.33}, {'connected_gene': 'GPRC5C', 'score': 10.51}, {'connected_gene': 'TMEM104', 'score': 7.11}, {'connected_gene': 'TTYH2', 'score': 1.52}, {'connected_gene': 'RAB37', 'score': 1.5}, {'connected_gene': 'SLC9A3R1', 'score': 1.47}, {'connected_gene': 'GC17P074516', 'score': 0.39}]
chr17 GH17I074461 74461118 74470420 2.69 [{'connected_gene': 'CD300A', 'score': 564.81}, {'connected_gene': 'NUP85', 'score': 77.77}, {'connected_gene': 'NAT9', 'score': 75.11}, {'connected_gene': 'NT5C', 'score': 59.6}, {'connected_gene': 'GGA3', 'score': 40.5}, {'connected_gene': 'MGC16275', 'score': 14.05}, {'connected_gene': 'GPR142', 'score': 12.26}, {'connected_gene': 'CD300LB', 'score': 11.31}, {'connected_gene': 'ARMC7', 'score': 10.74}, {'connected_gene': 'BTBD17', 'score': 10.69}, {'connected_gene': 'HID1-AS1', 'score': 10.06}, {'connected_gene': 'RN7SL573P', 'score': 9.75}, {'connected_gene': 'CD300C', 'score': 7.69}, {'connected_gene': 'CD300E', 'score': 7.02}, {'connected_gene': 'CD300LF', 'score': 6.87}, {'connected_gene': 'CD300LD', 'score': 4.72}, {'connected_gene': 'TMEM104', 'score': 4.52}, {'connected_gene': 'RAB37', 'score': 3.43}, {'connected_gene': 'SLC9A3R1', 'score': 1.37}, {'connected_gene': 'GC17P074445', 'score': 0.34}]
chr17 GH17I074544 74544201 74546881 1.58 [{'connected_gene': 'CD300C', 'score': 562.71}, {'connected_gene': 'CASKIN2', 'score': 12.13}, {'connected_gene': 'HID1-AS1', 'score': 10.08}, {'connected_gene': 'SUMO2', 'score': 5.02}, {'connected_gene': 'SLC9A3R1', 'score': 4.62}, {'connected_gene': 'CD300LB', 'score': 0.39}]
chr17 GH17I074581 74581258 74581319 0.24 [{'connected_gene': 'CD300LD', 'score': 5.48}, {'connected_gene': 'RAB37', 'score': 1.82}, {'connected_gene': 'SLC9A3R1', 'score': 1.4}, {'connected_gene': 'C17orf77', 'score': 0.77}, {'connected_gene': 'PIR40961', 'score': 0.44}]
chr17 GH17I074754 74754942 74755091 0.79 [{'connected_gene': 'GC17P074757', 'score': 550.77}, {'connected_gene': 'LOC105371893', 'score': 0.44}, {'connected_gene': 'SLC9A3R1', 'score': 0.44}]

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