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
ENST00000331860 [[152974222, 152974269], [152975078, 152975162], [152975477, 152976331]] [[152975496, 152976006]]
ENST00000495845 [[152974224, 152974269], [152974421, 152974876]] None
ENST00000443178 [[152974226, 152974269], [152975078, 152975162], [152975477, 152975972]] [[152975496, 152975972]]
ENST00000295367 [[152974246, 152974269], [152975477, 152976332]] [[152975496, 152976006]]
ENST00000542696 [[152975496, 152975772], [152975796, 152976006]] [[152975496, 152975772], [152975796, 152976006]]
NM_001097589 [[152974222, 152974269], [152975477, 152976332]] [[152975496, 152976006]]
NM_005416 [[152974222, 152974269], [152975078, 152975162], [152975477, 152976332]] [[152975496, 152976006]]
Promoter
Chrom Start End Description
chr1 152974218 152974231 CAGE_peak_1_at_SPRR3_5end
chr1 152975124 152975130 CAGE_peak_3_at_SPRR3_5end
chr1 152975474 152975485 CAGE_peak_2_at_SPRR3_5end
chr1 152975488 152975498 CAGE_peak_4_at_SPRR3_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I152967 152967265 152967414 0.52 [{'connected_gene': 'SPRR3', 'score': 9.86}, {'connected_gene': 'SPRR4', 'score': 0.77}, {'connected_gene': 'LINC01527', 'score': 0.37}]
chr1 GH01I153001 153001700 153001759 0.73 [{'connected_gene': 'SPRR3', 'score': 550.77}, {'connected_gene': 'GC01P152985', 'score': 0.37}]
chr1 GH01I153032 153031269 153033848 0.67 [{'connected_gene': 'SPRR1B', 'score': 572.09}, {'connected_gene': 'LOC105371446', 'score': 18.46}, {'connected_gene': 'SPRR3', 'score': 10.26}, {'connected_gene': 'SPRR2D', 'score': 0.44}]
chr1 GH01I152953 152953281 152955242 0.62 [{'connected_gene': 'LOC105371446', 'score': 12.17}, {'connected_gene': 'SPRR1A', 'score': 10.88}, {'connected_gene': 'SPRR3', 'score': 10.03}, {'connected_gene': 'S100A16', 'score': 4.04}, {'connected_gene': 'LINC01527', 'score': 0.44}, {'connected_gene': 'SPRR4', 'score': 0.37}]
chr1 GH01I153586 153586565 153587949 0.49 [{'connected_gene': 'PIR44602', 'score': 550.77}, {'connected_gene': 'CRTC2', 'score': 19.33}, {'connected_gene': 'SLC27A3', 'score': 14.99}, {'connected_gene': 'UBAP2L', 'score': 14.86}, {'connected_gene': 'CHTOP', 'score': 14.76}, {'connected_gene': 'CREB3L4', 'score': 13.38}, {'connected_gene': 'INTS3', 'score': 12.05}, {'connected_gene': 'ENSG00000238279', 'score': 10.86}, {'connected_gene': 'S100A13', 'score': 10.83}, {'connected_gene': 'ILF2', 'score': 10.45}, {'connected_gene': 'SPRR3', 'score': 4.59}, {'connected_gene': 'HAX1', 'score': 4.11}, {'connected_gene': 'GC01P153610', 'score': 0.37}]