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
ENST00000445369 [[3062456, 3064506]] [[3063363, 3064017]]
NM_020982 [[3062456, 3064506]] [[3063363, 3064017]]
Promoter
Chrom Start End Description
chr16 3062916 3062930 CAGE_peak_1_at_CLDN9_5end
chr16 3063137 3063169 CAGE_peak_3_at_CLDN9_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr16 GH16I003013 3013760 3013903 0.6 [{'connected_gene': 'CLDN9', 'score': 550.77}, {'connected_gene': 'PIR52190', 'score': 550.77}, {'connected_gene': 'TNFRSF12A', 'score': 0.77}]
chr16 GH16I003012 3012035 3013736 1.46 [{'connected_gene': 'CLDN9', 'score': 550.77}, {'connected_gene': 'PIR52190', 'score': 550.77}, {'connected_gene': 'LOC107984895', 'score': 8.07}, {'connected_gene': 'IL32', 'score': 5.22}, {'connected_gene': 'PGP', 'score': 4.55}, {'connected_gene': 'TNFRSF12A', 'score': 0.44}]
chr16 GH16I003017 3017001 3018829 1.49 [{'connected_gene': 'TNFRSF12A', 'score': 550.77}, {'connected_gene': 'CLDN6', 'score': 550.77}, {'connected_gene': 'BICDL2', 'score': 24.92}, {'connected_gene': 'LOC107984895', 'score': 6.05}, {'connected_gene': 'CLDN9', 'score': 0.44}]
chr16 GH16I003003 3003600 3012032 2.06 [{'connected_gene': 'LOC107984895', 'score': 588.75}, {'connected_gene': 'LOC105371056', 'score': 550.77}, {'connected_gene': 'CREBBP', 'score': 51.42}, {'connected_gene': 'ZNF597', 'score': 49.41}, {'connected_gene': 'MMP25', 'score': 49.3}, {'connected_gene': 'AMDHD2', 'score': 39.4}, {'connected_gene': 'SRRM2', 'score': 31.21}, {'connected_gene': 'ZNF598', 'score': 31.07}, {'connected_gene': 'ZNF263', 'score': 28.3}, {'connected_gene': 'ZNF200', 'score': 23.9}, {'connected_gene': 'THOC6', 'score': 22.14}, {'connected_gene': 'TRAF7', 'score': 21.84}, {'connected_gene': 'E4F1', 'score': 13.22}, {'connected_gene': 'LOC105371055', 'score': 13.16}, {'connected_gene': 'ENSG00000261938', 'score': 12.81}, {'connected_gene': 'TSC2', 'score': 11.28}, {'connected_gene': 'SNORD60', 'score': 11.09}, {'connected_gene': 'MTCO1P28', 'score': 10.25}, {'connected_gene': 'LOC105371050', 'score': 9.83}, {'connected_gene': 'BICDL2', 'score': 7.82}, {'connected_gene': 'CLDN9', 'score': 7.14}, {'connected_gene': 'ENSG00000270168', 'score': 6.6}, {'connected_gene': 'PAQR4', 'score': 6.38}, {'connected_gene': 'LOC100128770', 'score': 6.03}, {'connected_gene': 'MEFV', 'score': 5.6}, {'connected_gene': 'PDPK1', 'score': 5.42}, {'connected_gene': 'ATP6V0C', 'score': 5.15}, {'connected_gene': 'FLYWCH1', 'score': 5.04}, {'connected_gene': 'PRSS22', 'score': 3.67}, {'connected_gene': 'PRSS33', 'score': 3.12}, {'connected_gene': 'NAA60', 'score': 2.16}, {'connected_gene': 'ZSCAN32', 'score': 1.34}, {'connected_gene': 'ENSG00000262362', 'score': 0.77}, {'connected_gene': 'PIR52190', 'score': 0.77}]
chr16 GH16I003052 3052601 3056271 0.97 [{'connected_gene': 'GC16P003447', 'score': 550.77}, {'connected_gene': 'MMP25', 'score': 29.89}, {'connected_gene': 'BICDL2', 'score': 22.63}, {'connected_gene': 'IL32', 'score': 15.5}, {'connected_gene': 'CLDN6', 'score': 12.46}, {'connected_gene': 'TNFRSF12A', 'score': 12.45}, {'connected_gene': 'ZNF205', 'score': 12.19}, {'connected_gene': 'CLDN9', 'score': 11.67}, {'connected_gene': 'PKMYT1', 'score': 11.38}, {'connected_gene': 'MMP25-AS1', 'score': 0.77}]