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
ENST00000528697 [[40135842, 40137884], [40162350, 40162403], [40263068, 40263148], [40341177, 40341271], [40669691, 40669828], [40955184, 40955273], [41480980, 41481135]] [[40135919, 40137842]]
ENST00000530763 [[40135842, 40137884], [40162350, 40162403], [40341177, 40341271], [40669691, 40669828], [41480980, 41481323]] [[40135919, 40137842]]
ENST00000534577 [[40669773, 40669828], [40955184, 40955273], [41244346, 41244558], [41480980, 41481186]] None
ENST00000278198 [[40135752, 40137884], [40313742, 40315664]] [[40135919, 40137842]]
ENST00000527150 [[40135790, 40137884], [40162350, 40162403], [40313742, 40314680]] [[40135919, 40137842]]
ENST00000533474 [[40137719, 40137884], [40162350, 40162403], [40263068, 40263433]] [[40137719, 40137842]]
NM_001258419 [[40135748, 40137884], [40162350, 40162403], [40263068, 40263148], [40341177, 40341271], [40669691, 40669828], [40955184, 40955273], [41480980, 41481186]] [[40135919, 40137842]]
NM_020929 [[40135748, 40137884], [40162350, 40162403], [40341177, 40341271], [40669691, 40669828], [41480980, 41481186]] [[40135919, 40137842]]
NR_047673 [[40135748, 40137884], [40162350, 40162403], [40313742, 40314680]] None
NR_047674 [[40135748, 40137884], [40313742, 40314680]] None
Promoter
Chrom Start End Description
chr11 40263097 40263118 CAGE_peak_19_at_LRRC4C_5end
chr11 40314652 40314669 CAGE_peak_8_at_LRRC4C_5end
chr11 40315134 40315154 CAGE_peak_10_at_LRRC4C_5end
chr11 40315234 40315252 CAGE_peak_24_at_LRRC4C_5end
chr11 40315625 40315638 CAGE_peak_7_at_LRRC4C_5end
chr11 40315640 40315684 CAGE_peak_2_at_LRRC4C_5end
chr11 40315686 40315714 CAGE_peak_3_at_LRRC4C_5end
chr11 41481144 41481215 CAGE_peak_1_at_LRRC4C_5end
chr11 41481753 41481767 CAGE_peak_4_at_LRRC4C_5end
chr11 41481776 41481797 CAGE_peak_11_at_LRRC4C_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I040783 40783099 40783400 0.22 [{'connected_gene': 'LRRC4C', 'score': 2.16}, {'connected_gene': 'GC11P040773', 'score': 0.44}, {'connected_gene': 'RNU6-365P', 'score': 0.05}]
chr11 GH11I040734 40734968 40735012 0.22 [{'connected_gene': 'LRRC4C', 'score': 1.46}, {'connected_gene': 'GC11P040773', 'score': 0.28}, {'connected_gene': 'LOC100419712', 'score': 0.06}]
chr11 GH11I041521 41521707 41524022 0.31 [{'connected_gene': 'LRRC4C', 'score': 10.97}, {'connected_gene': 'RPL9P23', 'score': 0.39}, {'connected_gene': 'LOC105376640', 'score': 0.08}]
chr11 GH11I041497 41497591 41498403 0.38 [{'connected_gene': 'LRRC4C', 'score': 11.14}, {'connected_gene': 'RPL9P23', 'score': 0.28}]
chr11 GH11I041450 41450484 41450655 0.22 [{'connected_gene': 'LRRC4C', 'score': 0.44}, {'connected_gene': 'ENSG00000255132', 'score': 0.22}]
chr11 GH11I041460 41459619 41459678 0.5 [{'connected_gene': 'LRRC4C', 'score': 550.77}, {'connected_gene': 'ENSG00000255132', 'score': 0.2}]
chr11 GH11I041455 41455892 41456887 0.38 [{'connected_gene': 'LRRC4C', 'score': 0.77}, {'connected_gene': 'ENSG00000255132', 'score': 0.21}]
chr11 GH11I041449 41449766 41450143 0.26 [{'connected_gene': 'LRRC4C', 'score': 0.39}, {'connected_gene': 'ENSG00000255132', 'score': 0.22}]
chr11 GH11I041459 41459781 41460200 0.7 [{'connected_gene': 'LRRC4C', 'score': 550.77}, {'connected_gene': 'ENSG00000255132', 'score': 0.2}]
chr11 GH11I041428 41428913 41429185 0.24 [{'connected_gene': 'LRRC4C', 'score': 11.33}, {'connected_gene': 'ENSG00000255132', 'score': 0.29}]
chr11 GH11I041051 41051016 41055184 0.4 [{'connected_gene': 'RNU6-365P', 'score': 0.2}, {'connected_gene': 'GC11P040773', 'score': 0.06}, {'connected_gene': 'LRRC4C', 'score': 0.05}]
chr11 GH11I041118 41118651 41118760 0.31 [{'connected_gene': 'RNU6-365P', 'score': 0.77}, {'connected_gene': 'GC11P040773', 'score': 0.05}, {'connected_gene': 'LRRC4C', 'score': 0.05}]
chr11 GH11I041116 41116917 41117280 0.31 [{'connected_gene': 'RNU6-365P', 'score': 0.44}, {'connected_gene': 'GC11P040773', 'score': 0.05}, {'connected_gene': 'LRRC4C', 'score': 0.05}]
chr11 GH11I040602 40602951 40603100 0.2 [{'connected_gene': 'LOC100419712', 'score': 0.1}, {'connected_gene': 'GC11P040773', 'score': 0.09}, {'connected_gene': 'LRRC4C', 'score': 0.03}]
chr11 GH11I041534 41534098 41535545 0.2 [{'connected_gene': 'RPL9P23', 'score': 550.77}, {'connected_gene': 'LRRC4C', 'score': 10.21}, {'connected_gene': 'LOC105376640', 'score': 0.1}]
chr11 GH11I041500 41500371 41500771 0.23 [{'connected_gene': 'RPL9P23', 'score': 0.28}, {'connected_gene': 'LRRC4C', 'score': 0.26}]
chr11 GH11I041392 41392097 41395412 0.31 [{'connected_gene': 'ENSG00000255132', 'score': 550.77}, {'connected_gene': 'LRRC4C', 'score': 10.53}, {'connected_gene': 'GC11M041362', 'score': 0.29}]
chr11 GH11I040787 40787230 40787553 0.2 [{'connected_gene': 'GC11P040773', 'score': 0.39}, {'connected_gene': 'RNU6-365P', 'score': 0.05}, {'connected_gene': 'LRRC4C', 'score': 0.03}]
chr11 GH11I040847 40847653 40847802 0.23 [{'connected_gene': 'GC11P040773', 'score': 0.19}, {'connected_gene': 'RNU6-365P', 'score': 0.06}, {'connected_gene': 'LRRC4C', 'score': 0.03}]
chr11 GH11I041247 41247636 41248930 0.2 [{'connected_gene': 'GC11P041305', 'score': 0.22}, {'connected_gene': 'RNU6-365P', 'score': 0.13}, {'connected_gene': 'LRRC4C', 'score': 0.08}]
chr11 GH11I040679 40679072 40680021 0.2 [{'connected_gene': 'GC11P040773', 'score': 0.16}, {'connected_gene': 'LOC100419712', 'score': 0.07}, {'connected_gene': 'LRRC4C', 'score': 0.03}]