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
ENST00000310421 [[67540721, 67547607], [67563692, 67563779], [67576483, 67579452]] [[67546735, 67547607], [67563692, 67563779], [67576483, 67579193]]
NM_025054 [[67542487, 67547607], [67563692, 67563779], [67576483, 67579452]] [[67546735, 67547607], [67563692, 67563779], [67576483, 67579193]]
Promoter
Chrom Start End Description
chr8 67576938 67576966 CAGE_peak_4_at_VCPIP1_5end
chr8 67579326 67579368 CAGE_peak_2_at_VCPIP1_5end
chr8 67579374 67579416 CAGE_peak_3_at_VCPIP1_5end
chr8 67579418 67579498 CAGE_peak_1_at_VCPIP1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr8 GH08I066922 66922052 66927158 1.58 [{'connected_gene': 'SNHG6', 'score': 550.77}, {'connected_gene': 'ARFGEF1', 'score': 26.93}, {'connected_gene': 'C8orf44', 'score': 20.36}, {'connected_gene': 'CSPP1', 'score': 12.91}, {'connected_gene': 'TCF24', 'score': 5.12}, {'connected_gene': 'VCPIP1', 'score': 4.29}, {'connected_gene': 'SNORD87', 'score': 0.77}, {'connected_gene': 'GC08M066924', 'score': 0.77}, {'connected_gene': 'GC08M066923', 'score': 0.77}, {'connected_gene': 'MCMDC2', 'score': 0.23}]
chr8 GH08I066663 66663137 66669258 2.28 [{'connected_gene': 'C8orf44', 'score': 555.33}, {'connected_gene': 'C8orf44-SGK3', 'score': 550.77}, {'connected_gene': 'VCPIP1', 'score': 550.77}, {'connected_gene': 'ARFGEF1', 'score': 21.09}, {'connected_gene': 'MYBL1', 'score': 11.59}, {'connected_gene': 'C8orf46', 'score': 4.53}, {'connected_gene': 'ENSG00000201365', 'score': 0.39}]
chr8 GH08I066661 66661859 66663020 0.98 [{'connected_gene': 'MYBL1', 'score': 11.6}, {'connected_gene': 'C8orf44', 'score': 4.99}, {'connected_gene': 'ADHFE1', 'score': 4.75}, {'connected_gene': 'VCPIP1', 'score': 0.77}, {'connected_gene': 'ENSG00000201365', 'score': 0.44}]
chr8 GH08I066605 66605952 66614801 2.53 [{'connected_gene': 'MYBL1', 'score': 558.84}, {'connected_gene': 'ARFGEF1', 'score': 16.66}, {'connected_gene': 'C8orf44', 'score': 14.44}, {'connected_gene': 'ADHFE1', 'score': 11.98}, {'connected_gene': 'RRS1', 'score': 10.42}, {'connected_gene': 'RRS1-AS1', 'score': 10.42}, {'connected_gene': 'C8orf46', 'score': 4.71}, {'connected_gene': 'VCPIP1', 'score': 2.9}, {'connected_gene': 'GC08M066612', 'score': 0.77}, {'connected_gene': 'GC08M066613', 'score': 0.77}, {'connected_gene': 'LOC105375884', 'score': 0.77}, {'connected_gene': 'RNU6-1324P', 'score': 0.14}]
chr8 GH08I066781 66781002 66782402 1.01 [{'connected_gene': 'SGK3', 'score': 8.51}, {'connected_gene': 'C8orf44', 'score': 4.63}, {'connected_gene': 'VCPIP1', 'score': 1.23}, {'connected_gene': 'GC08M066750', 'score': 0.77}, {'connected_gene': 'PTTG3P', 'score': 0.39}, {'connected_gene': 'C8orf44-SGK3', 'score': 0.14}]
chr8 GH08I066711 66711599 66714577 2.4 [{'connected_gene': 'SGK3', 'score': 555.6}, {'connected_gene': 'C8orf44', 'score': 4.8}, {'connected_gene': 'VCPIP1', 'score': 1.61}, {'connected_gene': 'C8orf44-SGK3', 'score': 0.25}, {'connected_gene': 'PTTG3P', 'score': 0.23}]
chr8 GH08I066531 66531369 66537459 1.55 [{'connected_gene': 'RNU6-1324P', 'score': 12.51}, {'connected_gene': 'MYBL1', 'score': 6.69}, {'connected_gene': 'ADHFE1', 'score': 5.99}, {'connected_gene': 'VCPIP1', 'score': 3.27}, {'connected_gene': 'MCMDC2', 'score': 2.66}, {'connected_gene': 'GC08M066613', 'score': 0.18}]
chr8 GH08I066652 66652066 66652215 0.38 [{'connected_gene': 'GC08P066654', 'score': 550.77}, {'connected_gene': 'ENSG00000201365', 'score': 550.77}, {'connected_gene': 'VCPIP1', 'score': 0.37}, {'connected_gene': 'GC08M066630', 'score': 0.34}]
chr8 GH08I066648 66648846 66648995 0.2 [{'connected_gene': 'GC08P066654', 'score': 0.77}, {'connected_gene': 'GC08M066630', 'score': 0.37}, {'connected_gene': 'VCPIP1', 'score': 0.37}]
chr8 GH08I066628 66628746 66628895 0.2 [{'connected_gene': 'GC08M066630', 'score': 550.77}, {'connected_gene': 'MYBL1', 'score': 0.39}, {'connected_gene': 'GC08M066612', 'score': 0.39}, {'connected_gene': 'VCPIP1', 'score': 0.28}]
chr8 GH08I066787 66787551 66787849 0.54 [{'connected_gene': 'GC08M066750', 'score': 550.77}, {'connected_gene': 'SGK3', 'score': 13.11}, {'connected_gene': 'PPP1R42', 'score': 9.75}, {'connected_gene': 'CSPP1', 'score': 9.75}, {'connected_gene': 'COPS5', 'score': 9.75}, {'connected_gene': 'ADHFE1', 'score': 4.09}, {'connected_gene': 'VCPIP1', 'score': 1.53}, {'connected_gene': 'MCMDC2', 'score': 0.18}, {'connected_gene': 'C8orf44-SGK3', 'score': 0.13}]