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
ENST00000481796 [[158680716, 158681086], [158963631, 158963696], [158980336, 158980466]] None
ENST00000397832 [[158787116, 158787230], [158963631, 158963696], [158970515, 158970596], [158980336, 158981536]] [[158787221, 158787230], [158963631, 158963696], [158970515, 158970596], [158980336, 158980520]]
ENST00000451172 [[158787116, 158787230], [158963631, 158963696], [158970515, 158970596], [158980336, 158980472], [158983003, 158983492]] [[158787221, 158787230], [158963631, 158963696], [158970515, 158970596], [158980336, 158980472], [158983003, 158983192]]
ENST00000482126 [[158787116, 158787230], [158963631, 158963696], [158980336, 158980472], [158983003, 158984096]] [[158787221, 158787230], [158963631, 158963696], [158980336, 158980472], [158983003, 158983192]]
NM_001042706 [[158787040, 158787230], [158963631, 158963696], [158970515, 158970596], [158980336, 158981536]] [[158787221, 158787230], [158963631, 158963696], [158970515, 158970596], [158980336, 158980520]]
NM_001197100 [[158787040, 158787230], [158963631, 158963696], [158980336, 158980472], [158983003, 158984096]] [[158787221, 158787230], [158963631, 158963696], [158980336, 158980472], [158983003, 158983192]]
NM_001042705 [[158787040, 158787230], [158963631, 158963696], [158970515, 158970596], [158980336, 158980472], [158983003, 158984096]] [[158787221, 158787230], [158963631, 158963696], [158970515, 158970596], [158980336, 158980472], [158983003, 158983192]]
Promoter
Chrom Start End Description
chr3 158681022 158681064 CAGE_peak_6_at_IQCJ_5end
chr3 158787098 158787114 CAGE_peak_24_at_SCHIP1_5end,CAGE_peak_2_at_IQCJ_5end
chr3 158787125 158787149 CAGE_peak_13_at_SCHIP1_5end,CAGE_peak_1_at_IQCJ_5end
chr3 158787178 158787189 CAGE_peak_42_at_SCHIP1_5end,CAGE_peak_4_at_IQCJ_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I158961 158961342 158962333 0.38 [{'connected_gene': 'IQCJ', 'score': 550.77}, {'connected_gene': 'IQCJ-SCHIP1', 'score': 550.77}, {'connected_gene': 'GC03M158916', 'score': 0.25}]
chr3 GH03I159069 159069270 159069356 0.61 [{'connected_gene': 'IQCJ', 'score': 550.14}, {'connected_gene': 'IQCJ-SCHIP1', 'score': 550.14}, {'connected_gene': 'PIR60988', 'score': 0.13}]
chr3 GH03I158991 158991272 158991441 0.57 [{'connected_gene': 'IQCJ', 'score': 11.7}, {'connected_gene': 'IQCJ-SCHIP1', 'score': 0.31}, {'connected_gene': 'PIR60988', 'score': 0.08}]
chr3 GH03I159252 159252352 159252501 0.43 [{'connected_gene': 'SCHIP1', 'score': 0.34}, {'connected_gene': 'PIR60988', 'score': 0.21}, {'connected_gene': 'IQCJ', 'score': 0.06}, {'connected_gene': 'IQCJ-SCHIP1', 'score': 0.06}]
chr3 GH03I159239 159239152 159239301 0.2 [{'connected_gene': 'SCHIP1', 'score': 0.29}, {'connected_gene': 'PIR60988', 'score': 0.25}, {'connected_gene': 'IQCJ', 'score': 0.06}, {'connected_gene': 'IQCJ-SCHIP1', 'score': 0.06}]
chr3 GH03I159465 159465618 159465715 0.22 [{'connected_gene': 'SCHIP1', 'score': 8.25}, {'connected_gene': 'IQCJ', 'score': 2.25}, {'connected_gene': 'RPS2P19', 'score': 0.18}, {'connected_gene': 'LOC100420738', 'score': 0.07}, {'connected_gene': 'IQCJ-SCHIP1', 'score': 0.03}]
chr3 GH03I158917 158917592 158918611 0.56 [{'connected_gene': 'GC03M158916', 'score': 550.77}, {'connected_gene': 'IQCJ', 'score': 11.38}, {'connected_gene': 'GFM1', 'score': 5.21}, {'connected_gene': 'RSRC1', 'score': 5.01}, {'connected_gene': 'IQCJ-SCHIP1', 'score': 0.26}]
chr3 GH03I159082 159082526 159082845 0.43 [{'connected_gene': 'PIR60988', 'score': 0.14}, {'connected_gene': 'IQCJ', 'score': 0.13}, {'connected_gene': 'IQCJ-SCHIP1', 'score': 0.13}]
chr3 GH03I159109 159109663 159110006 0.22 [{'connected_gene': 'PIR60988', 'score': 0.18}, {'connected_gene': 'IQCJ', 'score': 0.11}, {'connected_gene': 'IQCJ-SCHIP1', 'score': 0.11}]
chr3 GH03I159077 159077492 159078636 0.43 [{'connected_gene': 'PIR60988', 'score': 0.14}, {'connected_gene': 'IQCJ', 'score': 0.13}, {'connected_gene': 'IQCJ-SCHIP1', 'score': 0.13}]
chr3 GH03I159190 159190372 159190541 0.31 [{'connected_gene': 'PIR60988', 'score': 550.77}, {'connected_gene': 'IQCJ', 'score': 0.07}, {'connected_gene': 'IQCJ-SCHIP1', 'score': 0.07}]
chr3 GH03I159169 159169384 159171561 0.87 [{'connected_gene': 'PIR60988', 'score': 0.34}, {'connected_gene': 'IQCJ', 'score': 0.08}, {'connected_gene': 'IQCJ-SCHIP1', 'score': 0.08}]
chr3 GH03I159158 159158372 159158501 0.38 [{'connected_gene': 'PIR60988', 'score': 0.29}, {'connected_gene': 'IQCJ', 'score': 0.08}, {'connected_gene': 'IQCJ-SCHIP1', 'score': 0.08}]
chr3 GH03I159164 159164292 159164361 0.31 [{'connected_gene': 'PIR60988', 'score': 0.31}, {'connected_gene': 'IQCJ', 'score': 0.08}, {'connected_gene': 'IQCJ-SCHIP1', 'score': 0.08}]
chr3 GH03I159200 159200332 159200521 0.38 [{'connected_gene': 'PIR60988', 'score': 0.44}, {'connected_gene': 'SCHIP1', 'score': 0.19}, {'connected_gene': 'IQCJ', 'score': 0.07}, {'connected_gene': 'IQCJ-SCHIP1', 'score': 0.07}]
chr3 GH03I159191 159191492 159191741 0.67 [{'connected_gene': 'PIR60988', 'score': 550.77}, {'connected_gene': 'SCHIP1', 'score': 0.18}, {'connected_gene': 'IQCJ', 'score': 0.07}, {'connected_gene': 'IQCJ-SCHIP1', 'score': 0.07}]