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
ENST00000216500 [[60610837, 60611731], [60616070, 60616286], [60616782, 60616905], [60619656, 60619896], [60620676, 60620783], [60622717, 60622870], [60631894, 60632323], [60636414, 60636574]] [[60611683, 60611731], [60616070, 60616286], [60616782, 60616905], [60619656, 60619896], [60620676, 60620783], [60622717, 60622870], [60631894, 60632027]]
ENST00000557185 [[60611501, 60611731], [60616070, 60616286], [60616782, 60616905], [60619656, 60619896], [60620676, 60620783], [60622717, 60622870], [60631894, 60632211]] [[60611683, 60611731], [60616070, 60616286], [60616782, 60616905], [60619656, 60619896], [60620676, 60620783], [60622717, 60622870], [60631894, 60632027]]
ENST00000557751 [[60611523, 60611731], [60616167, 60616286], [60616782, 60616905], [60619656, 60619892]] [[60611571, 60611731], [60616167, 60616286], [60616782, 60616905], [60619656, 60619892]]
ENST00000536410 [[60611523, 60611731], [60616070, 60616286], [60616782, 60616905], [60619656, 60619896], [60620676, 60620783], [60622717, 60622870], [60636414, 60636561]] [[60611683, 60611731], [60616070, 60616286], [60616782, 60616905], [60619656, 60619896], [60620676, 60620783], [60622717, 60622853]]
ENST00000554101 [[60615665, 60616286], [60616782, 60616905], [60619656, 60619896], [60620676, 60620783], [60622717, 60622870], [60631894, 60632011]] [[60615827, 60616286], [60616782, 60616905], [60619656, 60619896], [60620676, 60620783], [60622717, 60622870], [60631894, 60632011]]
ENST00000553986 [[60616176, 60616286], [60616782, 60616835], [60619656, 60619896], [60620676, 60620723]] None
ENST00000557137 [[60616817, 60616905], [60620676, 60620783], [60622717, 60622870], [60631894, 60632026]] [[60616817, 60616905], [60620676, 60620783], [60622717, 60622870], [60631894, 60632026]]
ENST00000556502 [[60619406, 60619896], [60620676, 60620783], [60622717, 60622870], [60631894, 60632068]] None
ENST00000555171 [[60622549, 60622870], [60631894, 60632136]] None
ENST00000557326 [[60622820, 60622870], [60631894, 60632323], [60632920, 60633023]] [[60622820, 60622870], [60631894, 60632027]]
ENST00000553328 [[60632026, 60632317], [60636414, 60636489]] None
NM_001322281 [[60610836, 60611731], [60616070, 60616286], [60616782, 60616905], [60619656, 60619896], [60620669, 60620783], [60622717, 60622870], [60631894, 60632211]] [[60611683, 60611731], [60616070, 60616286], [60616782, 60616905], [60619656, 60619869]]
NM_016029 [[60610836, 60611731], [60616070, 60616286], [60616782, 60616905], [60619656, 60619896], [60620676, 60620783], [60622717, 60622870], [60631894, 60632211]] [[60611683, 60611731], [60616070, 60616286], [60616782, 60616905], [60619656, 60619896], [60620676, 60620783], [60622717, 60622870], [60631894, 60632027]]
NM_001322282 [[60610836, 60611731], [60616070, 60616286], [60616782, 60616905], [60620676, 60620783], [60622717, 60622870], [60631894, 60632211]] [[60611683, 60611731], [60616070, 60616286], [60616782, 60616905], [60620676, 60620783], [60622717, 60622870], [60631894, 60632027]]
NM_001322280 [[60610837, 60611731], [60616070, 60616286], [60616782, 60616905], [60619656, 60619896], [60620676, 60620783], [60622717, 60622870], [60636414, 60636582]] [[60611683, 60611731], [60616070, 60616286], [60616782, 60616905], [60619656, 60619896], [60620676, 60620783], [60622717, 60622853]]
Promoter
Chrom Start End Description
chr14 60632021 60632035 CAGE_peak_3_at_DHRS7_5end
chr14 60632043 60632073 CAGE_peak_2_at_DHRS7_5end
chr14 60632081 60632143 CAGE_peak_1_at_DHRS7_5end
chr14 60632162 60632178 CAGE_peak_4_at_DHRS7_5end
chr14 60636500 60636512 CAGE_peak_8_at_DHRS7_5end
chr14 60636590 60636597 CAGE_peak_11_at_DHRS7_5end
chr14 60636598 60636610 CAGE_peak_6_at_DHRS7_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr14 GH14I060090 60090603 60096835 2.49 [{'connected_gene': 'PCNX4', 'score': 563.62}, {'connected_gene': 'LOC105370524', 'score': 550.77}, {'connected_gene': 'DHRS7', 'score': 15.49}, {'connected_gene': 'L3HYPDH', 'score': 14.06}, {'connected_gene': 'SCOCP1', 'score': 11.52}, {'connected_gene': 'TRMT5', 'score': 11.15}, {'connected_gene': 'GC14P060140', 'score': 0.25}]
chr14 GH14I060153 60153614 60155258 0.6 [{'connected_gene': 'PCNX4', 'score': 11.08}, {'connected_gene': 'LOC101927702', 'score': 10.31}, {'connected_gene': 'PPM1A', 'score': 10.31}, {'connected_gene': 'SCOCP1', 'score': 0.77}, {'connected_gene': 'GC14P060159', 'score': 0.77}, {'connected_gene': 'GC14P060140', 'score': 0.39}, {'connected_gene': 'DHRS7', 'score': 0.37}]
chr14 GH14I060150 60150794 60153210 1.38 [{'connected_gene': 'DHRS7', 'score': 22.61}, {'connected_gene': 'PCNX4', 'score': 11.98}, {'connected_gene': 'RTN1', 'score': 7.23}, {'connected_gene': 'PPM1A', 'score': 2.36}, {'connected_gene': 'SCOCP1', 'score': 0.44}, {'connected_gene': 'GC14P060159', 'score': 0.44}, {'connected_gene': 'GC14P060140', 'score': 0.39}]
chr14 GH14I060155 60155367 60156704 0.31 [{'connected_gene': 'DHRS7', 'score': 21.98}, {'connected_gene': 'PCNX4', 'score': 11.08}, {'connected_gene': 'PPM1A', 'score': 10.32}, {'connected_gene': 'LOC101927702', 'score': 10.31}, {'connected_gene': 'CCDC175', 'score': 6.74}, {'connected_gene': 'SCOCP1', 'score': 0.77}, {'connected_gene': 'GC14P060159', 'score': 0.77}, {'connected_gene': 'GC14P060140', 'score': 0.37}]
chr14 GH14I060163 60163782 60167006 2.18 [{'connected_gene': 'DHRS7', 'score': 573.26}, {'connected_gene': 'PCNX4', 'score': 11.55}, {'connected_gene': 'SCOCP1', 'score': 0.44}, {'connected_gene': 'GC14P060159', 'score': 0.44}]
chr14 GH14I060174 60174263 60176232 0.54 [{'connected_gene': 'DHRS7', 'score': 22.02}, {'connected_gene': 'PCNX4', 'score': 10.78}, {'connected_gene': 'LOC101927702', 'score': 10.34}, {'connected_gene': 'PPM1A', 'score': 10.34}, {'connected_gene': 'PSMA3P', 'score': 0.77}]
chr14 GH14I060105 60105829 60107400 0.6 [{'connected_gene': 'DHRS7', 'score': 15.08}, {'connected_gene': 'PCNX4', 'score': 0.39}, {'connected_gene': 'GC14P060140', 'score': 0.29}]
chr14 GH14I060101 60101923 60103333 0.63 [{'connected_gene': 'DHRS7', 'score': 15.07}, {'connected_gene': 'PCNX4', 'score': 0.39}, {'connected_gene': 'GC14P060140', 'score': 0.28}]
chr14 GH14I060002 60002459 60003919 0.43 [{'connected_gene': 'DHRS7', 'score': 15.23}, {'connected_gene': 'ENSG00000261120', 'score': 0.18}, {'connected_gene': 'LRRC9', 'score': 0.18}, {'connected_gene': 'LOC105370524', 'score': 0.17}]
chr14 GH14I059997 59997299 59998960 0.38 [{'connected_gene': 'DHRS7', 'score': 15.33}, {'connected_gene': 'ENSG00000261120', 'score': 0.18}, {'connected_gene': 'LRRC9', 'score': 0.18}, {'connected_gene': 'LOC105370524', 'score': 0.16}]
chr14 GH14I060161 60161213 60162599 1.26 [{'connected_gene': 'DHRS7', 'score': 22.02}, {'connected_gene': 'SCOCP1', 'score': 0.77}, {'connected_gene': 'GC14P060159', 'score': 0.77}, {'connected_gene': 'PCNX4', 'score': 0.19}]
chr14 GH14I060158 60158320 60160195 0.2 [{'connected_gene': 'SCOCP1', 'score': 550.77}, {'connected_gene': 'GC14P060159', 'score': 550.77}, {'connected_gene': 'DHRS7', 'score': 21.98}, {'connected_gene': 'PCNX4', 'score': 11.49}, {'connected_gene': 'LOC101927702', 'score': 10.32}, {'connected_gene': 'PPM1A', 'score': 10.32}]
chr14 GH14I060160 60160601 60161000 0.4 [{'connected_gene': 'SCOCP1', 'score': 550.77}, {'connected_gene': 'GC14P060159', 'score': 550.77}, {'connected_gene': 'DHRS7', 'score': 0.44}, {'connected_gene': 'PCNX4', 'score': 0.2}]
chr14 GH14I059563 59563917 59567134 0.65 [{'connected_gene': 'L3HYPDH', 'score': 47.95}, {'connected_gene': 'JKAMP', 'score': 20.33}, {'connected_gene': 'RTN1', 'score': 4.71}, {'connected_gene': 'DAAM1', 'score': 4.29}, {'connected_gene': 'DHRS7', 'score': 4.09}, {'connected_gene': 'CCDC175', 'score': 0.37}, {'connected_gene': 'ENSG00000258782', 'score': 0.26}]
chr14 GH14I060204 60204150 60205352 1.01 [{'connected_gene': 'LOC101927702', 'score': 11.38}, {'connected_gene': 'PPM1A', 'score': 11.38}, {'connected_gene': 'TRMT5', 'score': 11.16}, {'connected_gene': 'L3HYPDH', 'score': 10.65}, {'connected_gene': 'DHRS7', 'score': 10.53}, {'connected_gene': 'RPL17P2', 'score': 0.44}, {'connected_gene': 'GC14P060180', 'score': 0.31}]