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
ENST00000356455 [[44441214, 44441435], [44442075, 44442103], [44443022, 44443109], [44444179, 44444384], [44444492, 44444552], [44445347, 44445596]] [[44441334, 44441435], [44442075, 44442103], [44443022, 44443109], [44444179, 44444384], [44444492, 44444552], [44445347, 44445406]]
ENST00000405520 [[44441254, 44442103], [44443022, 44443109], [44444179, 44444384], [44444492, 44444552], [44445347, 44445592]] [[44442091, 44442103], [44443022, 44443109], [44444179, 44444384], [44444492, 44444552], [44445347, 44445406]]
ENST00000335046 [[44441273, 44441435], [44442075, 44442103], [44443022, 44443109], [44444028, 44444179], [44444492, 44444552], [44445347, 44445596]] [[44441334, 44441435], [44442075, 44442103], [44443022, 44443109], [44444028, 44444179], [44444492, 44444552], [44445347, 44445406]]
ENST00000243893 [[44441296, 44441435], [44442075, 44442103], [44444492, 44444552], [44445347, 44445596]] [[44441334, 44441435], [44442075, 44442103], [44444492, 44444516]]
ENST00000352551 [[44441312, 44441435], [44442075, 44442103], [44444179, 44444384], [44444492, 44444552], [44445347, 44445596]] [[44441334, 44441435], [44442075, 44442103], [44444179, 44444384], [44444492, 44444552], [44445347, 44445406]]
ENST00000372568 [[44441644, 44441929], [44442075, 44442103], [44443022, 44443109], [44444179, 44444384], [44444492, 44444552], [44445347, 44445596]] [[44442091, 44442103], [44443022, 44443109], [44444179, 44444384], [44444492, 44444552], [44445347, 44445406]]
ENST00000496085 [[44443048, 44443109], [44444081, 44444384], [44444492, 44444552], [44445347, 44445441]] None
NR_104036 [[44441214, 44441435], [44442075, 44442103], [44444492, 44444552], [44445347, 44445596]] None
NM_181800 [[44441214, 44441435], [44442075, 44442103], [44444179, 44444384], [44444492, 44444552], [44445347, 44445596]] [[44441334, 44441435], [44442075, 44442103], [44444179, 44444384], [44444492, 44444552], [44445347, 44445406]]
NM_001281741 [[44441214, 44441435], [44442075, 44442103], [44444028, 44444179], [44444492, 44444552], [44445347, 44445596]] [[44441334, 44441435], [44442075, 44442103], [44444028, 44444179], [44444492, 44444552], [44445347, 44445406]]
NR_104037 [[44441214, 44441435], [44442075, 44442103], [44443022, 44443032], [44444299, 44444384], [44444492, 44444552], [44445347, 44445596]] None
NM_001281742 [[44441214, 44441435], [44442075, 44442103], [44443022, 44443109], [44444492, 44444552], [44445347, 44445596]] [[44441334, 44441435], [44442075, 44442103], [44443022, 44443109], [44444492, 44444516]]
NM_007019 [[44441214, 44441435], [44442075, 44442103], [44443022, 44443109], [44444179, 44444384], [44444492, 44444552], [44445347, 44445596]] [[44441334, 44441435], [44442075, 44442103], [44443022, 44443109], [44444179, 44444384], [44444492, 44444552], [44445347, 44445406]]
NM_181799 [[44441214, 44441435], [44442075, 44442103], [44443022, 44443109], [44444028, 44444179], [44444492, 44444552], [44445347, 44445596]] [[44441334, 44441435], [44442075, 44442103], [44443022, 44443109], [44444028, 44444179], [44444492, 44444552], [44445347, 44445406]]
NM_181801 [[44441671, 44441929], [44442075, 44442103], [44443022, 44443109], [44444179, 44444384], [44444492, 44444552], [44445347, 44445596]] [[44442091, 44442103], [44443022, 44443109], [44444179, 44444384], [44444492, 44444552], [44445347, 44445406]]
Promoter
Chrom Start End Description
chr20 44441242 44441255 CAGE_peak_3_at_UBE2C_5end
chr20 44441271 44441296 CAGE_peak_1_at_UBE2C_5end
chr20 44441304 44441319 CAGE_peak_2_at_UBE2C_5end
chr20 44441626 44441660 CAGE_peak_4_at_UBE2C_5end
chr20 44441676 44441692 CAGE_peak_5_at_UBE2C_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr20 GH20I045825 45825675 45829574 1.6 [{'connected_gene': 'TNNC2', 'score': 550.44}, {'connected_gene': 'WFDC3', 'score': 34.2}, {'connected_gene': 'SNX21', 'score': 5.71}, {'connected_gene': 'CD40', 'score': 5.25}, {'connected_gene': 'ENSG00000237464', 'score': 4.29}, {'connected_gene': 'UBE2C', 'score': 0.37}]
chr20 GH20I045933 45933164 45939495 2.34 [{'connected_gene': 'PCIF1', 'score': 562.62}, {'connected_gene': 'SNX21', 'score': 27.86}, {'connected_gene': 'NCOA5', 'score': 27.62}, {'connected_gene': 'TP53RK', 'score': 27.46}, {'connected_gene': 'SPATA25', 'score': 25.61}, {'connected_gene': 'ZNF335', 'score': 23.89}, {'connected_gene': 'PLTP', 'score': 23.26}, {'connected_gene': 'SLC35C2', 'score': 22.54}, {'connected_gene': 'WFDC3', 'score': 17.33}, {'connected_gene': 'ENSG00000271984', 'score': 13.62}, {'connected_gene': 'ACOT8', 'score': 11.88}, {'connected_gene': 'ZSWIM3', 'score': 11.88}, {'connected_gene': 'CTSA', 'score': 11.58}, {'connected_gene': 'NEURL2', 'score': 11.58}, {'connected_gene': 'ZSWIM1', 'score': 11.35}, {'connected_gene': 'TNNC2', 'score': 11.28}, {'connected_gene': 'UBE2C', 'score': 11.11}, {'connected_gene': 'DNTTIP1', 'score': 10.41}, {'connected_gene': 'CD40', 'score': 10.38}, {'connected_gene': 'SLC12A5', 'score': 10.06}, {'connected_gene': 'SLC12A5-AS1', 'score': 10.06}, {'connected_gene': 'TOMM34', 'score': 4.54}]
chr20 GH20I045909 45909090 45912823 2.22 [{'connected_gene': 'PLTP', 'score': 565.1}, {'connected_gene': 'SLC12A5-AS1', 'score': 14.75}, {'connected_gene': 'ACOT8', 'score': 11.39}, {'connected_gene': 'ZSWIM3', 'score': 11.39}, {'connected_gene': 'SNX21', 'score': 10.78}, {'connected_gene': 'TNNC2', 'score': 10.78}, {'connected_gene': 'UBE2C', 'score': 10.42}, {'connected_gene': 'DNTTIP1', 'score': 9.58}, {'connected_gene': 'WFDC3', 'score': 9.58}, {'connected_gene': 'SLC12A5', 'score': 9.53}, {'connected_gene': 'ENSG00000271984', 'score': 5.33}]
chr20 GH20I045824 45822102 45822291 0.63 [{'connected_gene': 'PLTP', 'score': 16.17}, {'connected_gene': 'ACOT8', 'score': 11.13}, {'connected_gene': 'ZSWIM3', 'score': 11.13}, {'connected_gene': 'ZSWIM1', 'score': 10.84}, {'connected_gene': 'DNTTIP1', 'score': 10.64}, {'connected_gene': 'WFDC3', 'score': 10.64}, {'connected_gene': 'SPATA25', 'score': 10.49}, {'connected_gene': 'NEURL2', 'score': 10.49}, {'connected_gene': 'CTSA', 'score': 10.49}, {'connected_gene': 'UBE2C', 'score': 0.44}, {'connected_gene': 'SNX21', 'score': 0.39}]
chr20 GH20I045829 45829775 45830911 0.81 [{'connected_gene': 'WFDC3', 'score': 34.4}, {'connected_gene': 'SNX21', 'score': 5.64}, {'connected_gene': 'PI3', 'score': 4.53}, {'connected_gene': 'TNNC2', 'score': 0.77}, {'connected_gene': 'UBE2C', 'score': 0.37}]
chr20 GH20I045822 45822801 45825423 1.2 [{'connected_gene': 'WFDC3', 'score': 45.37}, {'connected_gene': 'PLTP', 'score': 15.49}, {'connected_gene': 'NCOA5', 'score': 14.75}, {'connected_gene': 'ACOT8', 'score': 11.15}, {'connected_gene': 'ZSWIM3', 'score': 11.15}, {'connected_gene': 'ZSWIM1', 'score': 10.84}, {'connected_gene': 'DNTTIP1', 'score': 10.64}, {'connected_gene': 'ZNF334', 'score': 10.5}, {'connected_gene': 'SPATA25', 'score': 10.49}, {'connected_gene': 'NEURL2', 'score': 10.49}, {'connected_gene': 'CTSA', 'score': 10.49}, {'connected_gene': 'SNX21', 'score': 0.44}, {'connected_gene': 'TNNC2', 'score': 0.44}, {'connected_gene': 'UBE2C', 'score': 0.39}]
chr20 GH20I045817 45817174 45818668 1.25 [{'connected_gene': 'WFDC3', 'score': 43.79}, {'connected_gene': 'PLTP', 'score': 15.68}, {'connected_gene': 'NCOA5', 'score': 12.54}, {'connected_gene': 'ACOT8', 'score': 11.84}, {'connected_gene': 'ZSWIM3', 'score': 11.84}, {'connected_gene': 'DNTTIP1', 'score': 11.29}, {'connected_gene': 'ZSWIM1', 'score': 11.08}, {'connected_gene': 'SPATA25', 'score': 10.93}, {'connected_gene': 'NEURL2', 'score': 10.93}, {'connected_gene': 'CTSA', 'score': 10.93}, {'connected_gene': 'SNX21', 'score': 9.18}, {'connected_gene': 'WFDC13', 'score': 6.27}, {'connected_gene': 'UBE2C', 'score': 0.44}]
chr20 GH20I045924 45924059 45926211 1.17 [{'connected_gene': 'WFDC3', 'score': 15.22}, {'connected_gene': 'PLTP', 'score': 12.36}, {'connected_gene': 'NEURL2', 'score': 11.63}, {'connected_gene': 'CTSA', 'score': 11.63}, {'connected_gene': 'SPATA25', 'score': 11.61}, {'connected_gene': 'SNX21', 'score': 11.19}, {'connected_gene': 'TNNC2', 'score': 11.19}, {'connected_gene': 'ACOT8', 'score': 11.12}, {'connected_gene': 'ZSWIM3', 'score': 11.12}, {'connected_gene': 'UBE2C', 'score': 10.98}, {'connected_gene': 'DNTTIP1', 'score': 10.54}, {'connected_gene': 'SLC12A5', 'score': 9.66}, {'connected_gene': 'SLC12A5-AS1', 'score': 9.66}, {'connected_gene': 'PCIF1', 'score': 0.44}]
chr20 GH20I045808 45808930 45811240 0.72 [{'connected_gene': 'WFDC3', 'score': 54.57}, {'connected_gene': 'WFDC13', 'score': 6.25}, {'connected_gene': 'PLTP', 'score': 4.71}, {'connected_gene': 'UBE2C', 'score': 0.77}, {'connected_gene': 'DNTTIP1', 'score': 0.37}]
chr20 GH20I045917 45917214 45921240 1.27 [{'connected_gene': 'WFDC3', 'score': 15.61}, {'connected_gene': 'NEURL2', 'score': 11.61}, {'connected_gene': 'CTSA', 'score': 11.61}, {'connected_gene': 'SPATA25', 'score': 11.59}, {'connected_gene': 'PLTP', 'score': 11.39}, {'connected_gene': 'ACOT8', 'score': 11.12}, {'connected_gene': 'ZSWIM3', 'score': 11.12}, {'connected_gene': 'SNX21', 'score': 11.04}, {'connected_gene': 'TNNC2', 'score': 11.04}, {'connected_gene': 'UBE2C', 'score': 10.9}, {'connected_gene': 'DNTTIP1', 'score': 10.55}, {'connected_gene': 'SLC12A5', 'score': 9.78}, {'connected_gene': 'SLC12A5-AS1', 'score': 9.78}, {'connected_gene': 'PCIF1', 'score': 0.37}]
chr20 GH20I045791 45791322 45793276 2.25 [{'connected_gene': 'WFDC3', 'score': 606.57}, {'connected_gene': 'DNTTIP1', 'score': 550.77}, {'connected_gene': 'UBE2C', 'score': 0.34}]
chr20 GH20I045963 45963082 45963231 0.68 [{'connected_gene': 'SPATA25', 'score': 11.09}, {'connected_gene': 'ZSWIM1', 'score': 10.92}, {'connected_gene': 'UBE2C', 'score': 10.89}, {'connected_gene': 'CTSA', 'score': 10.89}, {'connected_gene': 'NEURL2', 'score': 10.89}, {'connected_gene': 'TNNC2', 'score': 10.72}, {'connected_gene': 'SNX21', 'score': 10.72}, {'connected_gene': 'PLTP', 'score': 10.67}, {'connected_gene': 'DNTTIP1', 'score': 10.52}, {'connected_gene': 'WFDC3', 'score': 10.52}, {'connected_gene': 'SLC12A5', 'score': 10.41}, {'connected_gene': 'SLC12A5-AS1', 'score': 10.41}, {'connected_gene': 'NCOA5', 'score': 10.07}, {'connected_gene': 'RNU6ATAC38P', 'score': 8.81}, {'connected_gene': 'ZNF335', 'score': 0.44}, {'connected_gene': 'PCIF1', 'score': 0.31}]
chr20 GH20I045796 45796482 45796631 0.2 [{'connected_gene': 'DNTTIP1', 'score': 0.77}, {'connected_gene': 'UBE2C', 'score': 0.37}]
chr20 GH20I045798 45798907 45799519 0.84 [{'connected_gene': 'DNTTIP1', 'score': 0.44}, {'connected_gene': 'UBE2C', 'score': 0.39}]
chr20 GH20I045811 45811394 45813891 1.93 [{'connected_gene': 'UBE2C', 'score': 550.77}, {'connected_gene': 'WFDC3', 'score': 51.36}, {'connected_gene': 'NCOA5', 'score': 31.39}, {'connected_gene': 'TP53RK', 'score': 27.07}, {'connected_gene': 'ZNF335', 'score': 15.56}, {'connected_gene': 'PCIF1', 'score': 14.43}, {'connected_gene': 'SPATA25', 'score': 14.2}, {'connected_gene': 'ENSG00000271984', 'score': 12.61}, {'connected_gene': 'CD40', 'score': 10.68}, {'connected_gene': 'DNTTIP1', 'score': 10.65}, {'connected_gene': 'SLC35C2', 'score': 10.02}, {'connected_gene': 'SDC4', 'score': 9.86}, {'connected_gene': 'WFDC13', 'score': 6.39}, {'connected_gene': 'PI3', 'score': 4.88}, {'connected_gene': 'SNX21', 'score': 0.34}]
chr20 GH20I045814 45814000 45814401 0.68 [{'connected_gene': 'UBE2C', 'score': 550.77}, {'connected_gene': 'WFDC3', 'score': 17.4}, {'connected_gene': 'DNTTIP1', 'score': 7.82}, {'connected_gene': 'WFDC13', 'score': 6.0}, {'connected_gene': 'SNX21', 'score': 0.37}]
chr20 GH20I045819 45819902 45820564 0.59 [{'connected_gene': 'ACOT8', 'score': 11.13}, {'connected_gene': 'ZSWIM3', 'score': 11.13}, {'connected_gene': 'ZSWIM1', 'score': 10.82}, {'connected_gene': 'DNTTIP1', 'score': 10.66}, {'connected_gene': 'WFDC3', 'score': 10.66}, {'connected_gene': 'SPATA25', 'score': 10.49}, {'connected_gene': 'CTSA', 'score': 10.49}, {'connected_gene': 'NEURL2', 'score': 10.48}, {'connected_gene': 'PLTP', 'score': 10.32}, {'connected_gene': 'UBE2C', 'score': 0.44}, {'connected_gene': 'SNX21', 'score': 0.39}]
chr20 GH20I045823 45822432 45822771 0.58 [{'connected_gene': 'ACOT8', 'score': 11.15}, {'connected_gene': 'ZSWIM3', 'score': 11.15}, {'connected_gene': 'ZSWIM1', 'score': 10.84}, {'connected_gene': 'DNTTIP1', 'score': 10.64}, {'connected_gene': 'WFDC3', 'score': 10.64}, {'connected_gene': 'SPATA25', 'score': 10.49}, {'connected_gene': 'NEURL2', 'score': 10.49}, {'connected_gene': 'CTSA', 'score': 10.49}, {'connected_gene': 'PLTP', 'score': 10.33}, {'connected_gene': 'UBE2C', 'score': 0.39}, {'connected_gene': 'SNX21', 'score': 0.39}]
chr20 GH20I045904 45904523 45906575 0.81 [{'connected_gene': 'ACOT8', 'score': 11.41}, {'connected_gene': 'ZSWIM3', 'score': 11.41}, {'connected_gene': 'SNX21', 'score': 10.79}, {'connected_gene': 'TNNC2', 'score': 10.79}, {'connected_gene': 'UBE2C', 'score': 10.43}, {'connected_gene': 'PLTP', 'score': 10.37}, {'connected_gene': 'DNTTIP1', 'score': 9.59}, {'connected_gene': 'WFDC3', 'score': 9.59}, {'connected_gene': 'SLC12A5', 'score': 9.52}, {'connected_gene': 'SLC12A5-AS1', 'score': 9.52}, {'connected_gene': 'ENSG00000271984', 'score': 0.39}]
chr20 GH20I045773 45773773 45776369 0.31 [{'connected_gene': 'GC20P045773', 'score': 550.77}, {'connected_gene': 'WFDC3', 'score': 70.67}, {'connected_gene': 'UBE2C', 'score': 10.41}, {'connected_gene': 'SNX21', 'score': 10.38}, {'connected_gene': 'TNNC2', 'score': 10.38}, {'connected_gene': 'EPPIN', 'score': 10.32}, {'connected_gene': 'EPPIN-WFDC6', 'score': 10.32}, {'connected_gene': 'HSPD1P21', 'score': 10.32}, {'connected_gene': 'WFDC6', 'score': 10.32}, {'connected_gene': 'ENSG00000232135', 'score': 10.32}, {'connected_gene': 'GC20P045779', 'score': 0.77}]

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