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
ENST00000243662 [[87846409, 87847308], [87882842, 87883123], [87908350, 87908635]] [[87847155, 87847308], [87882842, 87883123], [87908350, 87908552]]
ENST00000531138 [[87846631, 87847308], [87908350, 87908601]] [[87847291, 87847308], [87908350, 87908601]]
ENST00000526372 [[87846779, 87847308], [87882842, 87883123], [87908405, 87908602]] [[87847155, 87847308], [87882842, 87883123], [87908405, 87908602]]
NM_022337 [[87846414, 87847308], [87882842, 87883123], [87908350, 87908635]] [[87847155, 87847308], [87882842, 87883123], [87908350, 87908552]]
Promoter
Chrom Start End Description
chr11 87908600 87908680 CAGE_peak_1_at_RAB38_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I088169 88169002 88170428 0.4 [{'connected_gene': 'RAB38', 'score': 9.79}, {'connected_gene': 'ENSG00000279733', 'score': 0.77}, {'connected_gene': 'GC11P088152', 'score': 0.37}]
chr11 GH11I088188 88188693 88188842 0.43 [{'connected_gene': 'RAB38', 'score': 9.98}, {'connected_gene': 'PIR47502', 'score': 0.44}, {'connected_gene': 'GC11M088197', 'score': 0.39}, {'connected_gene': 'GC11P088152', 'score': 0.28}]
chr11 GH11I088102 88102062 88105142 1 [{'connected_gene': 'RAB38', 'score': 5.85}, {'connected_gene': 'ENSG00000206690', 'score': 0.77}, {'connected_gene': 'ENSG00000255241', 'score': 0.44}, {'connected_gene': 'GC11P088071', 'score': 0.29}, {'connected_gene': 'GC11M088128', 'score': 0.28}]
chr11 GH11I088171 88171952 88176351 2.28 [{'connected_gene': 'RAB38', 'score': 563.36}, {'connected_gene': 'ENSG00000279733', 'score': 0.44}, {'connected_gene': 'GC11P088152', 'score': 0.34}]
chr11 GH11I088232 88232013 88232162 0.46 [{'connected_gene': 'CTSC', 'score': 12.03}, {'connected_gene': 'RAB38', 'score': 7.03}, {'connected_gene': 'GC11M088197', 'score': 0.29}, {'connected_gene': 'GC11P088152', 'score': 0.18}]
chr11 GH11I088150 88150722 88154226 0.56 [{'connected_gene': 'GC11P088152', 'score': 550.77}, {'connected_gene': 'RAB38', 'score': 13.38}, {'connected_gene': 'ENSG00000255241', 'score': 10.24}, {'connected_gene': 'ENSG00000255102', 'score': 10.24}, {'connected_gene': 'ENSG00000206690', 'score': 10.24}, {'connected_gene': 'GRM5-AS1', 'score': 9.1}, {'connected_gene': 'CTSC', 'score': 4.66}, {'connected_gene': 'ENSG00000279733', 'score': 0.37}]
chr11 GH11I087472 87472858 87474186 0.31 [{'connected_gene': 'PIR42100', 'score': 550.77}, {'connected_gene': 'RAB38', 'score': 4.69}, {'connected_gene': 'HMGB3P25', 'score': 0.44}, {'connected_gene': 'GC11P087444', 'score': 0.31}]
chr11 GH11I088178 88178672 88180892 0.93 [{'connected_gene': 'PIR47502', 'score': 550.77}, {'connected_gene': 'RAB38', 'score': 15.28}, {'connected_gene': 'ENSG00000206690', 'score': 10.35}, {'connected_gene': 'ENSG00000255241', 'score': 10.34}, {'connected_gene': 'ENSG00000255102', 'score': 10.34}, {'connected_gene': 'GC11M088197', 'score': 0.34}, {'connected_gene': 'GC11P088152', 'score': 0.31}]
chr11 GH11I088138 88138524 88138635 0.22 [{'connected_gene': 'GC11M088128', 'score': 550.77}, {'connected_gene': 'RAB38', 'score': 18.25}, {'connected_gene': 'ENSG00000206690', 'score': 0.28}]