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
ENST00000532026 [[19138645, 19138687], [19164524, 19164670], [19167727, 19167850], [19169142, 19169220], [19170733, 19170802]] None
ENST00000446113 [[19138675, 19138823], [19164524, 19164670], [19167727, 19167850], [19169142, 19169220], [19170733, 19170878], [19172273, 19172338], [19173704, 19173867], [19174105, 19174231], [19177342, 19177476], [19180486, 19180587], [19184849, 19184974], [19185847, 19185910], [19186598, 19186692], [19187848, 19187932], [19191957, 19192115], [19194269, 19194367], [19197368, 19197962]] [[19138796, 19138823], [19164524, 19164670], [19167727, 19167850], [19169142, 19169220], [19170733, 19170878], [19172273, 19172338], [19173704, 19173867], [19174105, 19174231], [19177342, 19177476], [19180486, 19180587], [19184849, 19184974], [19185847, 19185910], [19186598, 19186692], [19187848, 19187932], [19191957, 19192115], [19194269, 19194367], [19197368, 19197507]]
ENST00000399351 [[19138691, 19138823], [19167727, 19167850], [19169142, 19169220], [19170733, 19170878], [19172273, 19172338], [19173704, 19173867], [19174105, 19174231], [19177342, 19177476], [19180486, 19180587], [19184849, 19184974], [19185847, 19185910], [19186598, 19186692], [19187848, 19187932], [19191957, 19192115], [19194269, 19194367], [19197368, 19197962]] [[19170749, 19170878], [19172273, 19172338], [19173704, 19173867], [19174105, 19174231], [19177342, 19177476], [19180486, 19180587], [19184849, 19184974], [19185847, 19185910], [19186598, 19186692], [19187848, 19187932], [19191957, 19192115], [19194269, 19194367], [19197368, 19197507]]
ENST00000525490 [[19138702, 19138823], [19167727, 19167850], [19169142, 19169220], [19170733, 19170878], [19172273, 19172338], [19173704, 19173867], [19174105, 19174231], [19177342, 19177476], [19180486, 19180587], [19184849, 19184974], [19185847, 19185910], [19186598, 19186692], [19187848, 19192115], [19194269, 19194367], [19197368, 19197969]] None
ENST00000524744 [[19138730, 19138823], [19139238, 19139486], [19140272, 19140364]] None
ENST00000532812 [[19170160, 19170367], [19170733, 19170878], [19172273, 19172338], [19173704, 19173867], [19174105, 19174231], [19177342, 19177478]] None
ENST00000530698 [[19170216, 19170298], [19170733, 19170878], [19172273, 19172338], [19173704, 19173867], [19174105, 19174172]] None
ENST00000530100 [[19185828, 19186692], [19187848, 19188263]] None
NM_001001483 [[19138691, 19138823], [19167727, 19167850], [19169142, 19169220], [19170733, 19170878], [19172273, 19172338], [19173704, 19173867], [19174105, 19174231], [19177342, 19177476], [19180486, 19180587], [19184849, 19184974], [19185847, 19185910], [19186598, 19186692], [19187848, 19187932], [19191957, 19192115], [19194269, 19194367], [19197368, 19197967]] [[19170749, 19170878], [19172273, 19172338], [19173704, 19173867], [19174105, 19174231], [19177342, 19177476], [19180486, 19180587], [19184849, 19184974], [19185847, 19185910], [19186598, 19186692], [19187848, 19187932], [19191957, 19192115], [19194269, 19194367], [19197368, 19197507]]
NM_019028 [[19138691, 19138823], [19164524, 19164670], [19167727, 19167850], [19169142, 19169220], [19170733, 19170878], [19172273, 19172338], [19173704, 19173867], [19174105, 19174231], [19177342, 19177476], [19180486, 19180587], [19184849, 19184974], [19185847, 19185910], [19186598, 19186692], [19187848, 19187932], [19191957, 19192115], [19194269, 19194367], [19197368, 19197967]] [[19138796, 19138823], [19164524, 19164670], [19167727, 19167850], [19169142, 19169220], [19170733, 19170878], [19172273, 19172338], [19173704, 19173867], [19174105, 19174231], [19177342, 19177476], [19180486, 19180587], [19184849, 19184974], [19185847, 19185910], [19186598, 19186692], [19187848, 19187932], [19191957, 19192115], [19194269, 19194367], [19197368, 19197507]]
Promoter
Chrom Start End Description
chr11 19138670 19138732 CAGE_peak_1_at_ZDHHC13_5end
chr11 19138741 19138756 CAGE_peak_2_at_ZDHHC13_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I019216 19216805 19220451 0.96 [{'connected_gene': 'E2F8', 'score': 19.21}, {'connected_gene': 'ENSG00000255308', 'score': 12.72}, {'connected_gene': 'ZDHHC13', 'score': 10.15}, {'connected_gene': 'CSRP3', 'score': 0.44}]
chr11 GH11I019236 19236180 19245260 2.42 [{'connected_gene': 'E2F8', 'score': 550.77}, {'connected_gene': 'SPTY2D1', 'score': 26.54}, {'connected_gene': 'ENSG00000256361', 'score': 12.67}, {'connected_gene': 'ENSG00000256588', 'score': 12.66}, {'connected_gene': 'TSG101', 'score': 11.34}, {'connected_gene': 'ZDHHC13', 'score': 10.67}, {'connected_gene': 'LOC105376580', 'score': 6.78}, {'connected_gene': 'CSRP3', 'score': 0.29}, {'connected_gene': 'ENSG00000255308', 'score': 0.26}]
chr11 GH11I019079 19079102 19081476 0.82 [{'connected_gene': 'ZDHHC13', 'score': 18.41}, {'connected_gene': 'PTPN5', 'score': 4.25}, {'connected_gene': 'GC11P019071', 'score': 0.44}]
chr11 GH11I019172 19172537 19174989 1.16 [{'connected_gene': 'ZDHHC13', 'score': 14.99}, {'connected_gene': 'ENSG00000255308', 'score': 12.31}, {'connected_gene': 'CSRP3', 'score': 11.93}, {'connected_gene': 'GC11P019191', 'score': 0.37}]
chr11 GH11I019253 19253525 19254459 0.54 [{'connected_gene': 'ZDHHC13', 'score': 10.31}, {'connected_gene': 'PCNAP4', 'score': 4.71}, {'connected_gene': 'E2F8', 'score': 0.39}, {'connected_gene': 'ENSG00000255308', 'score': 0.22}]
chr11 GH11I019753 19753715 19753984 0.51 [{'connected_gene': 'ZDHHC13', 'score': 9.51}, {'connected_gene': 'MIR4694', 'score': 0.44}, {'connected_gene': 'LOC100126784', 'score': 0.28}, {'connected_gene': 'NAV2', 'score': 0.05}]
chr11 GH11I019750 19750818 19751625 0.2 [{'connected_gene': 'ZDHHC13', 'score': 9.51}, {'connected_gene': 'MIR4694', 'score': 0.44}, {'connected_gene': 'LOC100126784', 'score': 0.28}, {'connected_gene': 'NAV2', 'score': 0.05}]
chr11 GH11I019077 19077242 19077243 0.57 [{'connected_gene': 'ZDHHC13', 'score': 10.92}, {'connected_gene': 'GC11P019071', 'score': 0.44}]
chr11 GH11I019087 19087243 19088313 0.31 [{'connected_gene': 'ZDHHC13', 'score': 18.87}, {'connected_gene': 'GC11P019071', 'score': 0.37}]
chr11 GH11I019116 19116477 19118616 1.98 [{'connected_gene': 'ZDHHC13', 'score': 560.4}, {'connected_gene': 'GC11P019191', 'score': 0.19}]
chr11 GH11I019180 19180915 19181903 0.38 [{'connected_gene': 'ZDHHC13', 'score': 9.76}, {'connected_gene': 'GC11P019191', 'score': 0.39}]
chr11 GH11I019073 19073894 19074664 0.49 [{'connected_gene': 'ZDHHC13', 'score': 17.21}, {'connected_gene': 'GC11P019071', 'score': 0.77}]
chr11 GH11I019101 19101572 19103327 0.66 [{'connected_gene': 'ZDHHC13', 'score': 8.85}, {'connected_gene': 'GC11P019071', 'score': 0.29}]
chr11 GH11I018899 18899630 18901259 0.52 [{'connected_gene': 'LOC441592', 'score': 9.55}, {'connected_gene': 'PTPN5', 'score': 6.74}, {'connected_gene': 'ZDHHC13', 'score': 4.58}, {'connected_gene': 'LOC390099', 'score': 0.39}, {'connected_gene': 'LOC390098', 'score': 0.39}]
chr11 GH11I019183 19183947 19186544 0.43 [{'connected_gene': 'GTF2H1', 'score': 4.15}, {'connected_gene': 'GC11P019191', 'score': 0.44}, {'connected_gene': 'CSRP3', 'score': 0.31}, {'connected_gene': 'ZDHHC13', 'score': 0.2}]
chr11 GH11I019071 19071132 19071654 1.13 [{'connected_gene': 'MRGPRX2', 'score': 550.77}, {'connected_gene': 'GC11P019071', 'score': 550.77}, {'connected_gene': 'ZDHHC13', 'score': 10.97}, {'connected_gene': 'LOC100420121', 'score': 0.26}]
chr11 GH11I019059 19059948 19060147 0.22 [{'connected_gene': 'MRGPRX2', 'score': 12.08}, {'connected_gene': 'ZDHHC13', 'score': 5.9}, {'connected_gene': 'LOC100420121', 'score': 0.31}]
chr11 GH11I019074 19073634 19073777 0.38 [{'connected_gene': 'MRGPRX2', 'score': 550.77}, {'connected_gene': 'GC11P019071', 'score': 550.77}, {'connected_gene': 'ZDHHC13', 'score': 10.91}]
chr11 GH11I019072 19072086 19073525 0.56 [{'connected_gene': 'MRGPRX2', 'score': 550.77}, {'connected_gene': 'GC11P019071', 'score': 550.77}, {'connected_gene': 'ZDHHC13', 'score': 11.48}, {'connected_gene': 'ENSG00000255308', 'score': 10.38}]
chr11 GH11I019187 19187954 19188083 0.66 [{'connected_gene': 'GC11P019191', 'score': 0.77}, {'connected_gene': 'CSRP3', 'score': 0.34}, {'connected_gene': 'ZDHHC13', 'score': 0.19}]
chr11 GH11I019220 19220814 19222368 0.71 [{'connected_gene': 'ENSG00000255308', 'score': 11.42}, {'connected_gene': 'ZDHHC13', 'score': 9.96}, {'connected_gene': 'CSRP3', 'score': 0.39}, {'connected_gene': 'E2F8', 'score': 0.34}]
chr11 GH11I019224 19224564 19226331 0.38 [{'connected_gene': 'ENSG00000255308', 'score': 11.39}, {'connected_gene': 'ZDHHC13', 'score': 10.23}, {'connected_gene': 'E2F8', 'score': 6.3}, {'connected_gene': 'CSRP3', 'score': 0.39}]
chr11 GH11I019168 19168525 19169116 0.2 [{'connected_gene': 'ENSG00000255308', 'score': 11.6}, {'connected_gene': 'GC11P019191', 'score': 0.34}, {'connected_gene': 'ZDHHC13', 'score': 0.23}]
chr11 GH11I019169 19169542 19170095 0.2 [{'connected_gene': 'ENSG00000255308', 'score': 11.6}, {'connected_gene': 'GC11P019191', 'score': 0.34}, {'connected_gene': 'ZDHHC13', 'score': 0.23}]
chr11 GH11I019191 19191309 19192375 0.79 [{'connected_gene': 'GC11P019191', 'score': 550.77}, {'connected_gene': 'LOC105376579', 'score': 6.55}, {'connected_gene': 'CSRP3', 'score': 0.37}, {'connected_gene': 'ZDHHC13', 'score': 0.19}]