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
ENST00000228887 [[13093708, 13093783], [13095194, 13095262], [13102423, 13103318]] [[13093708, 13093783], [13095194, 13095262], [13102423, 13103318]]
ENST00000396333 [[13093775, 13093783], [13102423, 13103318]] [[13093775, 13093783], [13102423, 13103318]]
ENST00000541128 [[13102956, 13103363], [13105040, 13105081]] [[13102956, 13103318]]
NM_018654 [[13093708, 13093783], [13095194, 13095262], [13102423, 13103318]] [[13093708, 13093783], [13095194, 13095262], [13102423, 13103318]]
Promoter
Chrom Start End Description
chr12 13105091 13105109 CAGE_peak_1_at_GPRC5D_5end
chr12 13105142 13105150 CAGE_peak_2_at_GPRC5D_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr12 GH12I012846 12846907 12847056 0.2 [{'connected_gene': 'GPRC5A', 'score': 11.65}, {'connected_gene': 'MIR614', 'score': 11.52}, {'connected_gene': 'GPRC5D', 'score': 9.91}, {'connected_gene': 'RPS6P1', 'score': 0.77}, {'connected_gene': 'GC12P012841', 'score': 0.44}]
chr12 GH12I012847 12846000 12846160 0.4 [{'connected_gene': 'GPRC5A', 'score': 11.68}, {'connected_gene': 'GPRC5D', 'score': 10.52}, {'connected_gene': 'ENSG00000256011', 'score': 10.38}, {'connected_gene': 'MIR614', 'score': 10.23}, {'connected_gene': 'GC12P012841', 'score': 0.77}, {'connected_gene': 'RPS6P1', 'score': 0.77}]
chr12 GH12I012943 12943687 12943816 0.2 [{'connected_gene': 'MIR614', 'score': 11.03}, {'connected_gene': 'DDX47', 'score': 10.4}, {'connected_gene': 'GC12M012943', 'score': 0.39}, {'connected_gene': 'GPRC5D-AS1', 'score': 0.37}, {'connected_gene': 'GPRC5D', 'score': 0.28}]
chr12 GH12I012947 12947047 12947216 0.68 [{'connected_gene': 'MIR614', 'score': 11.01}, {'connected_gene': 'DDX47', 'score': 10.4}, {'connected_gene': 'GC12M012943', 'score': 0.44}, {'connected_gene': 'GPRC5D-AS1', 'score': 0.37}, {'connected_gene': 'GPRC5D', 'score': 0.29}]
chr12 GH12I012946 12946847 12946996 0.52 [{'connected_gene': 'MIR614', 'score': 11.01}, {'connected_gene': 'DDX47', 'score': 10.4}, {'connected_gene': 'GC12M012943', 'score': 0.44}, {'connected_gene': 'GPRC5D-AS1', 'score': 0.37}, {'connected_gene': 'GPRC5D', 'score': 0.29}]
chr12 GH12I013215 13213907 13214056 0.4 [{'connected_gene': 'MIR614', 'score': 11.05}, {'connected_gene': 'GPRC5D-AS1', 'score': 10.47}, {'connected_gene': 'GPRC5D', 'score': 10.42}, {'connected_gene': 'ENSG00000256011', 'score': 9.96}, {'connected_gene': 'GC12P013222', 'score': 0.44}, {'connected_gene': 'GC12M013206', 'score': 0.44}, {'connected_gene': 'EMP1', 'score': 0.37}]
chr12 GH12I013216 13213647 13213796 0.4 [{'connected_gene': 'MIR614', 'score': 11.05}, {'connected_gene': 'GPRC5D-AS1', 'score': 10.47}, {'connected_gene': 'GPRC5D', 'score': 10.42}, {'connected_gene': 'ENSG00000256011', 'score': 9.96}, {'connected_gene': 'GC12P013222', 'score': 0.44}, {'connected_gene': 'GC12M013206', 'score': 0.44}, {'connected_gene': 'EMP1', 'score': 0.37}]
chr12 GH12I013213 13213109 13213449 0.4 [{'connected_gene': 'MIR614', 'score': 11.05}, {'connected_gene': 'GPRC5D-AS1', 'score': 10.47}, {'connected_gene': 'GPRC5D', 'score': 10.42}, {'connected_gene': 'ENSG00000256011', 'score': 9.96}, {'connected_gene': 'GC12P013222', 'score': 0.44}, {'connected_gene': 'GC12M013206', 'score': 0.44}, {'connected_gene': 'EMP1', 'score': 0.37}]
chr12 GH12I013086 13086941 13089661 0.74 [{'connected_gene': 'FAM234B', 'score': 15.39}, {'connected_gene': 'HEBP1', 'score': 15.22}, {'connected_gene': 'EMP1', 'score': 11.55}, {'connected_gene': 'ENSG00000256011', 'score': 10.28}, {'connected_gene': 'ENSG00000255621', 'score': 10.27}, {'connected_gene': 'HTR7P1', 'score': 10.27}, {'connected_gene': 'MIR614', 'score': 10.09}, {'connected_gene': 'GPRC5D', 'score': 9.94}, {'connected_gene': 'GC12P013100', 'score': 0.39}, {'connected_gene': 'GSG1', 'score': 0.37}, {'connected_gene': 'PIR34161', 'score': 0.34}]
chr12 GH12I012977 12977925 12978053 0.63 [{'connected_gene': 'GPRC5D', 'score': 550.77}, {'connected_gene': 'MIR614', 'score': 11.08}, {'connected_gene': 'ENSG00000255621', 'score': 11.01}, {'connected_gene': 'HTR7P1', 'score': 11.01}, {'connected_gene': 'HEBP1', 'score': 11.01}, {'connected_gene': 'DDX47', 'score': 10.14}, {'connected_gene': 'EMP1', 'score': 9.93}, {'connected_gene': 'ENSG00000221611', 'score': 0.44}, {'connected_gene': 'GPRC5D-AS1', 'score': 0.23}]
chr12 GH12I012921 12921219 12922686 0.87 [{'connected_gene': 'GPRC5D', 'score': 10.63}, {'connected_gene': 'ENSG00000256011', 'score': 10.59}, {'connected_gene': 'GPRC5D-AS1', 'score': 10.18}, {'connected_gene': 'MIR614', 'score': 0.44}]
chr12 GH12I012950 12950416 12950475 0.5 [{'connected_gene': 'GPRC5D', 'score': 550.31}, {'connected_gene': 'GC12M012943', 'score': 0.44}, {'connected_gene': 'GPRC5D-AS1', 'score': 0.34}]
chr12 GH12I013273 13273187 13273396 0.2 [{'connected_gene': 'GPRC5D', 'score': 10.2}, {'connected_gene': 'GC12M013269', 'score': 0.77}, {'connected_gene': 'GC12P013296', 'score': 0.34}]
chr12 GH12I012834 12834128 12843038 1.36 [{'connected_gene': 'DDX47', 'score': 34.79}, {'connected_gene': 'GPRC5A', 'score': 11.8}, {'connected_gene': 'LOC100506248', 'score': 11.08}, {'connected_gene': 'MIR614', 'score': 10.9}, {'connected_gene': 'ENSG00000256011', 'score': 10.72}, {'connected_gene': 'GPRC5D-AS1', 'score': 10.63}, {'connected_gene': 'GPRC5D', 'score': 10.51}, {'connected_gene': 'LRP6', 'score': 10.0}, {'connected_gene': 'RPL13AP20', 'score': 5.46}, {'connected_gene': 'GC12P012841', 'score': 0.77}, {'connected_gene': 'GC12P012833', 'score': 0.77}, {'connected_gene': 'RPL37AP9', 'score': 0.77}]
chr12 GH12I013193 13193348 13212836 2.53 [{'connected_gene': 'EMP1', 'score': 555.63}, {'connected_gene': 'HTR7P1', 'score': 15.78}, {'connected_gene': 'MIR614', 'score': 11.87}, {'connected_gene': 'GSG1', 'score': 11.86}, {'connected_gene': 'DDX47', 'score': 11.73}, {'connected_gene': 'GPRC5D-AS1', 'score': 11.25}, {'connected_gene': 'ENSG00000255621', 'score': 11.25}, {'connected_gene': 'HEBP1', 'score': 11.25}, {'connected_gene': 'ENSG00000221611', 'score': 10.54}, {'connected_gene': 'LOH12CR2', 'score': 10.46}, {'connected_gene': 'ENSG00000256011', 'score': 10.46}, {'connected_gene': 'GPRC5D', 'score': 10.43}, {'connected_gene': 'GC12M013198', 'score': 0.77}, {'connected_gene': 'GC12M013206', 'score': 0.77}]
chr12 GH12I013029 13029327 13029456 0.31 [{'connected_gene': 'EMP1', 'score': 11.67}, {'connected_gene': 'ENSG00000255621', 'score': 11.35}, {'connected_gene': 'HTR7P1', 'score': 11.35}, {'connected_gene': 'HEBP1', 'score': 11.35}, {'connected_gene': 'MIR614', 'score': 11.26}, {'connected_gene': 'GPRC5D', 'score': 10.16}, {'connected_gene': 'RPS26P46', 'score': 0.44}, {'connected_gene': 'FAM234B', 'score': 0.39}]
chr12 GH12I013079 13079208 13079939 1.04 [{'connected_gene': 'EMP1', 'score': 10.99}, {'connected_gene': 'GSG1', 'score': 10.92}, {'connected_gene': 'GPRC5D', 'score': 9.41}, {'connected_gene': 'PIR34161', 'score': 0.39}, {'connected_gene': 'GC12P013100', 'score': 0.34}, {'connected_gene': 'FAM234B', 'score': 0.28}]
chr12 GH12I013147 13147647 13149801 0.92 [{'connected_gene': 'EMP1', 'score': 12.57}, {'connected_gene': 'GSG1', 'score': 11.75}, {'connected_gene': 'GPRC5D', 'score': 9.95}, {'connected_gene': 'GC12P013156', 'score': 0.77}, {'connected_gene': 'GC12P013142', 'score': 0.44}]
chr12 GH12I013146 13146647 13146796 0.84 [{'connected_gene': 'EMP1', 'score': 12.17}, {'connected_gene': 'GSG1', 'score': 11.77}, {'connected_gene': 'GPRC5D', 'score': 9.53}, {'connected_gene': 'GC12P013142', 'score': 0.77}, {'connected_gene': 'GC12P013156', 'score': 0.44}]
chr12 GH12I013214 13214726 13219465 0.43 [{'connected_gene': 'EMP1', 'score': 11.37}, {'connected_gene': 'MIR614', 'score': 11.31}, {'connected_gene': 'ENSG00000256011', 'score': 10.61}, {'connected_gene': 'ENSG00000221611', 'score': 10.53}, {'connected_gene': 'GPRC5D-AS1', 'score': 10.48}, {'connected_gene': 'GPRC5D', 'score': 10.42}, {'connected_gene': 'GSG1', 'score': 10.3}, {'connected_gene': 'GC12P013222', 'score': 0.44}, {'connected_gene': 'GC12M013206', 'score': 0.39}]
chr12 GH12I012827 12827039 12827797 0.2 [{'connected_gene': 'GPRC5D-AS1', 'score': 10.19}, {'connected_gene': 'MIR614', 'score': 10.07}, {'connected_gene': 'GPRC5D', 'score': 9.45}, {'connected_gene': 'GC12M012814', 'score': 0.44}, {'connected_gene': 'PIR47303', 'score': 0.44}, {'connected_gene': 'DDX47', 'score': 0.39}, {'connected_gene': 'APOLD1', 'score': 0.15}]
chr12 GH12I012825 12825262 12826695 0.2 [{'connected_gene': 'GPRC5D-AS1', 'score': 10.19}, {'connected_gene': 'MIR614', 'score': 10.07}, {'connected_gene': 'GPRC5D', 'score': 9.45}, {'connected_gene': 'GC12M012814', 'score': 0.44}, {'connected_gene': 'PIR47303', 'score': 0.44}, {'connected_gene': 'DDX47', 'score': 0.39}, {'connected_gene': 'APOLD1', 'score': 0.15}]
chr12 GH12I012924 12924956 12928233 1.66 [{'connected_gene': 'GPRC5D-AS1', 'score': 565.72}, {'connected_gene': 'GPRC5D', 'score': 11.42}, {'connected_gene': 'ENSG00000256011', 'score': 10.83}, {'connected_gene': 'GPRC5A', 'score': 10.63}, {'connected_gene': 'MIR614', 'score': 0.39}]
chr12 GH12I012972 12972000 12972059 0.26 [{'connected_gene': 'GC12P012972', 'score': 550.77}, {'connected_gene': 'ENSG00000221611', 'score': 550.77}, {'connected_gene': 'HTR7P1', 'score': 17.59}, {'connected_gene': 'GPRC5D', 'score': 0.44}, {'connected_gene': 'ENSG00000256011', 'score': 0.44}, {'connected_gene': 'GPRC5D-AS1', 'score': 0.26}]
chr12 GH12I012895 12895416 12897136 1.3 [{'connected_gene': 'ENSG00000256011', 'score': 10.89}, {'connected_gene': 'GPRC5D', 'score': 10.48}, {'connected_gene': 'GPRC5A', 'score': 8.67}, {'connected_gene': 'DUSP16', 'score': 3.29}, {'connected_gene': 'GC12P012922', 'score': 0.37}]
chr12 GH12I012978 12978476 12981416 0.94 [{'connected_gene': 'GC12P012980', 'score': 550.77}, {'connected_gene': 'GPRC5D', 'score': 550.77}, {'connected_gene': 'HEBP1', 'score': 24.04}, {'connected_gene': 'MIR614', 'score': 11.08}, {'connected_gene': 'ENSG00000255621', 'score': 11.01}, {'connected_gene': 'HTR7P1', 'score': 11.01}, {'connected_gene': 'GPRC5D-AS1', 'score': 10.46}, {'connected_gene': 'DDX47', 'score': 10.14}, {'connected_gene': 'EMP1', 'score': 9.93}]
chr12 GH12I012774 12774514 12777510 0.77 [{'connected_gene': 'GC12M012777', 'score': 550.77}, {'connected_gene': 'DDX47', 'score': 11.72}, {'connected_gene': 'LOC105369663', 'score': 10.53}, {'connected_gene': 'APOLD1', 'score': 10.53}, {'connected_gene': 'CDKN1B', 'score': 10.17}, {'connected_gene': 'MIR614', 'score': 10.04}, {'connected_gene': 'GPRC5D', 'score': 8.99}, {'connected_gene': 'BORCS5', 'score': 5.97}, {'connected_gene': 'STX8P1', 'score': 0.77}]
chr12 GH12I012975 12975177 12977620 1.09 [{'connected_gene': 'ENSG00000255621', 'score': 17.24}, {'connected_gene': 'HEBP1', 'score': 15.54}, {'connected_gene': 'MIR614', 'score': 11.08}, {'connected_gene': 'HTR7P1', 'score': 11.01}, {'connected_gene': 'DDX47', 'score': 10.14}, {'connected_gene': 'EMP1', 'score': 9.93}, {'connected_gene': 'GPRC5D', 'score': 0.77}, {'connected_gene': 'ENSG00000221611', 'score': 0.77}, {'connected_gene': 'GPRC5D-AS1', 'score': 0.25}]
chr12 GH12I013008 13008333 13009831 0.2 [{'connected_gene': 'ENSG00000221611', 'score': 10.6}, {'connected_gene': 'EMP1', 'score': 10.54}, {'connected_gene': 'GSG1', 'score': 10.44}, {'connected_gene': 'GPRC5D', 'score': 10.43}, {'connected_gene': 'GPRC5D-AS1', 'score': 10.35}, {'connected_gene': 'MIR614', 'score': 10.21}, {'connected_gene': 'ENSG00000255621', 'score': 8.4}, {'connected_gene': 'GC12P013002', 'score': 0.44}, {'connected_gene': 'RPS26P46', 'score': 0.39}]
chr12 GH12I013005 13005767 13005956 0.52 [{'connected_gene': 'ENSG00000221611', 'score': 10.62}, {'connected_gene': 'EMP1', 'score': 10.54}, {'connected_gene': 'GPRC5D', 'score': 10.43}, {'connected_gene': 'MIR614', 'score': 10.21}, {'connected_gene': 'GSG1', 'score': 10.14}, {'connected_gene': 'GC12P013002', 'score': 0.77}, {'connected_gene': 'ENSG00000255621', 'score': 0.44}, {'connected_gene': 'RPS26P46', 'score': 0.37}]