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
ENST00000309958 [[51515994, 51518208], [51518672, 51518806], [51519137, 51519412], [51520365, 51520546], [51522298, 51522398], [51523075, 51523282]] [[51518055, 51518208], [51518672, 51518806], [51519137, 51519412], [51520365, 51520546], [51522298, 51522386]]
ENST00000391805 [[51516000, 51518208], [51518672, 51518806], [51519137, 51519412], [51520365, 51520546], [51522298, 51522398], [51523323, 51523431]] [[51518055, 51518208], [51518672, 51518806], [51519137, 51519412], [51520365, 51520546], [51522298, 51522386]]
ENST00000358789 [[51517525, 51518208], [51518672, 51518806], [51519137, 51519412], [51520365, 51520546], [51522298, 51522395], [51522882, 51523020]] [[51518055, 51518208], [51518672, 51518806], [51519137, 51519412], [51520365, 51520546], [51522298, 51522386]]
ENST00000601467 [[51517765, 51518208], [51518672, 51518806], [51519137, 51519412], [51520365, 51520546], [51521710, 51522105]] [[51519257, 51519389]]
ENST00000599987 [[51519068, 51519412], [51520365, 51520578]] None
ENST00000599077 [[51519252, 51519412], [51520365, 51520546], [51522298, 51522398], [51523323, 51523431]] [[51519252, 51519412], [51520365, 51520546], [51522298, 51522386]]
NM_145888 [[51515999, 51518208], [51518672, 51518806], [51519137, 51519412], [51520365, 51520546], [51522298, 51522395], [51522882, 51522954]] [[51518055, 51518208], [51518672, 51518806], [51519137, 51519412], [51520365, 51520546], [51522298, 51522386]]
NM_002776 [[51515999, 51518208], [51518672, 51518806], [51519137, 51519412], [51520365, 51520546], [51522298, 51522398], [51523075, 51523282]] [[51518055, 51518208], [51518672, 51518806], [51519137, 51519412], [51520365, 51520546], [51522298, 51522386]]
NM_001077500 [[51515999, 51518208], [51518672, 51518806], [51519137, 51519412], [51520365, 51520546], [51522298, 51522398], [51523323, 51523431]] [[51518055, 51518208], [51518672, 51518806], [51519137, 51519412], [51520365, 51520546], [51522298, 51522386]]
Promoter
Chrom Start End Description
chr19 51522099 51522111 CAGE_peak_5_at_KLK10_5end
chr19 51522377 51522384 CAGE_peak_14_at_KLK10_5end
chr19 51522391 51522402 CAGE_peak_7_at_KLK10_5end
chr19 51522621 51522632 CAGE_peak_8_at_KLK10_5end
chr19 51522955 51522972 CAGE_peak_1_at_KLK10_5end
chr19 51523275 51523312 CAGE_peak_3_at_KLK10_5end
chr19 51523347 51523358 CAGE_peak_11_at_KLK10_5end
chr19 51523412 51523427 CAGE_peak_2_at_KLK10_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I051016 51016639 51018114 1.11 [{'connected_gene': 'ZNF175', 'score': 29.06}, {'connected_gene': 'ZNF615', 'score': 25.61}, {'connected_gene': 'KLK10', 'score': 23.63}, {'connected_gene': 'ZNF577', 'score': 19.9}, {'connected_gene': 'LRRC4B', 'score': 15.86}, {'connected_gene': 'POLD1', 'score': 13.51}, {'connected_gene': 'SPACA6', 'score': 13.46}, {'connected_gene': 'ZNF613', 'score': 12.25}, {'connected_gene': 'ZNF350', 'score': 11.4}, {'connected_gene': 'KLK13', 'score': 11.2}, {'connected_gene': 'KLK6', 'score': 11.08}, {'connected_gene': 'ZNF473', 'score': 10.98}, {'connected_gene': 'ENSG00000267808', 'score': 10.77}, {'connected_gene': 'SHANK1', 'score': 10.69}, {'connected_gene': 'ZNF649', 'score': 10.65}, {'connected_gene': 'KLK14', 'score': 10.37}, {'connected_gene': 'VRK3', 'score': 10.36}, {'connected_gene': 'ENSG00000268231', 'score': 10.26}, {'connected_gene': 'LINC01869', 'score': 9.46}, {'connected_gene': 'C19orf48', 'score': 9.46}, {'connected_gene': 'SNORD88C', 'score': 9.46}, {'connected_gene': 'ENSG00000268739', 'score': 0.77}]
chr19 GH19I051018 51018220 51020644 1.55 [{'connected_gene': 'KLK10', 'score': 574.42}, {'connected_gene': 'ZNF577', 'score': 28.71}, {'connected_gene': 'ZNF649', 'score': 25.8}, {'connected_gene': 'ZNF175', 'score': 22.55}, {'connected_gene': 'ENSG00000269483', 'score': 15.54}, {'connected_gene': 'KLK13', 'score': 11.2}, {'connected_gene': 'KLK6', 'score': 11.08}, {'connected_gene': 'ZNF350', 'score': 10.97}, {'connected_gene': 'ZNF615', 'score': 10.56}, {'connected_gene': 'KLK14', 'score': 10.37}, {'connected_gene': 'ZNF473', 'score': 10.06}, {'connected_gene': 'SNORD88C', 'score': 9.46}, {'connected_gene': 'LINC01869', 'score': 9.46}, {'connected_gene': 'C19orf48', 'score': 9.46}, {'connected_gene': 'ENSG00000267879', 'score': 5.38}, {'connected_gene': 'ENSG00000268739', 'score': 0.44}]
chr19 GH19I051021 51021105 51021334 0.69 [{'connected_gene': 'KLK10', 'score': 550.77}, {'connected_gene': 'KLK11', 'score': 0.44}]
chr19 GH19I051070 51070637 51071618 0.72 [{'connected_gene': 'POLD1', 'score': 11.53}, {'connected_gene': 'CTU1', 'score': 11.4}, {'connected_gene': 'KLK10', 'score': 11.33}, {'connected_gene': 'KLK11', 'score': 10.9}, {'connected_gene': 'KLK2', 'score': 9.6}, {'connected_gene': 'KLK13', 'score': 0.44}, {'connected_gene': 'KLK14', 'score': 0.37}]
chr19 GH19I051136 51136001 51145400 1.96 [{'connected_gene': 'SIGLEC7', 'score': 558.62}, {'connected_gene': 'SIGLEC17P', 'score': 11.99}, {'connected_gene': 'CTU1', 'score': 11.6}, {'connected_gene': 'POLD1', 'score': 11.58}, {'connected_gene': 'SIGLEC9', 'score': 11.51}, {'connected_gene': 'ZNF616', 'score': 11.13}, {'connected_gene': 'KLK14', 'score': 10.62}, {'connected_gene': 'KLK10', 'score': 10.12}, {'connected_gene': 'SIGLEC10', 'score': 3.02}, {'connected_gene': 'CD33', 'score': 2.23}, {'connected_gene': 'SIGLEC12', 'score': 1.11}, {'connected_gene': 'ENSG00000267990', 'score': 0.77}, {'connected_gene': 'ENSG00000267895', 'score': 0.77}]
chr19 GH19I050951 50951624 50953430 0.96 [{'connected_gene': 'KLK5', 'score': 556.88}, {'connected_gene': 'ENSG00000269495', 'score': 9.76}, {'connected_gene': 'KLK10', 'score': 4.78}]
chr19 GH19I050999 50999723 51003350 1.52 [{'connected_gene': 'KLK8', 'score': 560.66}, {'connected_gene': 'KLK10', 'score': 6.69}, {'connected_gene': 'ENSG00000269741', 'score': 0.44}, {'connected_gene': 'KLK9', 'score': 0.44}, {'connected_gene': 'KLK7', 'score': 0.37}, {'connected_gene': 'ENSG00000267879', 'score': 0.29}]
chr19 GH19I051027 51027981 51028040 0.5 [{'connected_gene': 'KLK11', 'score': 550.77}, {'connected_gene': 'KLK10', 'score': 0.44}]
chr19 GH19I051025 51025425 51027973 0.99 [{'connected_gene': 'KLK11', 'score': 550.77}, {'connected_gene': 'POLD1', 'score': 14.68}, {'connected_gene': 'ENSG00000268316', 'score': 12.65}, {'connected_gene': 'SIGLEC17P', 'score': 10.98}, {'connected_gene': 'ZNF577', 'score': 10.66}, {'connected_gene': 'ZNF350', 'score': 10.25}, {'connected_gene': 'ZNF613', 'score': 10.12}, {'connected_gene': 'KLK12', 'score': 6.11}, {'connected_gene': 'KLK10', 'score': 0.44}]