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
ENST00000289119 [[19230857, 19231724], [19236821, 19236987], [19237064, 19237113], [19239130, 19239304], [19244078, 19244191], [19263880, 19263926], [19282276, 19282459], [19283544, 19283708], [19284464, 19284766]] [[19231551, 19231724], [19236821, 19236987], [19237064, 19237113], [19239130, 19239304], [19244078, 19244191], [19263880, 19263926], [19282276, 19282459], [19283544, 19283708], [19284464, 19284626]]
ENST00000580981 [[19230888, 19231724], [19236821, 19236987], [19237064, 19237113], [19239130, 19239304], [19282276, 19282459], [19283544, 19283708], [19284464, 19284728]] [[19231551, 19231724], [19236821, 19236987], [19237064, 19237113], [19239130, 19239304], [19282276, 19282459], [19283544, 19283708], [19284464, 19284626]]
ENST00000578270 [[19231057, 19231724], [19236821, 19236987], [19237064, 19237113], [19239130, 19239304], [19243638, 19244191], [19263880, 19263926], [19282276, 19282459], [19283544, 19283786]] [[19231551, 19231724], [19236821, 19236987], [19237064, 19237113], [19239130, 19239304], [19243638, 19243721]]
ENST00000577891 [[19239140, 19239304], [19243638, 19244191], [19263880, 19263926], [19282276, 19282459], [19283544, 19283638], [19284464, 19284735]] [[19282304, 19282459], [19283544, 19283638], [19284464, 19284626]]
ENST00000579875 [[19243810, 19244191], [19282276, 19282459], [19283544, 19283708], [19284464, 19284601]] None
ENST00000584464 [[19262860, 19262966], [19263880, 19263926], [19282276, 19282459], [19283544, 19283649]] [[19262963, 19262966], [19263880, 19263926], [19282276, 19282459], [19283544, 19283649]]
ENST00000577928 [[19263741, 19263926], [19282276, 19282459], [19283544, 19283708], [19284464, 19284536]] None
ENST00000577564 [[19231653, 19231724], [19236821, 19236987], [19237064, 19237113], [19239130, 19239304], [19244078, 19244495]] None
ENST00000580477 [[19234849, 19235044], [19236821, 19236917]] [[19235027, 19235044], [19236821, 19236917]]
ENST00000579982 [[19281236, 19282459], [19283544, 19283708], [19284464, 19284741]] None
NM_138340 [[19230857, 19231724], [19236821, 19236987], [19237064, 19237113], [19239130, 19239304], [19244078, 19244191], [19263880, 19263926], [19282276, 19282459], [19283544, 19283708], [19284464, 19284766]] [[19231551, 19231724], [19236821, 19236987], [19237064, 19237113], [19239130, 19239304], [19244078, 19244191], [19263880, 19263926], [19282276, 19282459], [19283544, 19283708], [19284464, 19284626]]
NM_001308256 [[19230857, 19231724], [19236821, 19236987], [19237064, 19237113], [19239130, 19239304], [19282276, 19282459], [19283544, 19283708], [19284464, 19284766]] [[19231551, 19231724], [19236821, 19236987], [19237064, 19237113], [19239130, 19239304], [19282276, 19282459], [19283544, 19283708], [19284464, 19284626]]
NM_001308257 [[19230857, 19231724], [19236821, 19236987], [19237064, 19237113], [19239130, 19239304], [19243638, 19244175]] [[19231551, 19231724], [19236821, 19236987], [19237064, 19237113], [19239130, 19239304], [19243638, 19243721]]
Promoter
Chrom Start End Description
chr18 19284724 19284779 CAGE_peak_1_at_ABHD3_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr18 GH18I022093 22093880 22095012 1.1 [{'connected_gene': 'SNRPD1', 'score': 4.02}, {'connected_gene': 'ABHD3', 'score': 4.01}, {'connected_gene': 'ENSG00000263588', 'score': 0.44}, {'connected_gene': 'RNU6ATAC20P', 'score': 0.28}]
chr18 GH18I021667 21667757 21670355 0.67 [{'connected_gene': 'SNRPD1', 'score': 6.16}, {'connected_gene': 'ESCO1', 'score': 5.25}, {'connected_gene': 'ENSG00000265656', 'score': 0.77}, {'connected_gene': 'ENSG00000264188', 'score': 0.44}, {'connected_gene': 'ABHD3', 'score': 0.28}]
chr18 GH18I021141 21141679 21142706 0.2 [{'connected_gene': 'ROCK1', 'score': 11.47}, {'connected_gene': 'ABHD3', 'score': 4.07}, {'connected_gene': 'PIR55500', 'score': 0.39}, {'connected_gene': 'GC18M021182', 'score': 0.26}]
chr18 GH18I022055 22055579 22058498 0.87 [{'connected_gene': 'RBBP8', 'score': 9.91}, {'connected_gene': 'ABHD3', 'score': 6.82}, {'connected_gene': 'GREB1L', 'score': 4.43}, {'connected_gene': 'SNRPD1', 'score': 4.03}, {'connected_gene': 'GC18P022048', 'score': 0.44}, {'connected_gene': 'ENSG00000263588', 'score': 0.29}]
chr18 GH18I021675 21675028 21676470 0.72 [{'connected_gene': 'ABHD3', 'score': 9.41}, {'connected_gene': 'SNRPD1', 'score': 5.82}, {'connected_gene': 'ENSG00000265656', 'score': 0.77}, {'connected_gene': 'MIR320C1', 'score': 0.44}]
chr18 GH18I022083 22083222 22085864 0.89 [{'connected_gene': 'ABHD3', 'score': 5.97}, {'connected_gene': 'SNRPD1', 'score': 4.41}, {'connected_gene': 'ENSG00000263588', 'score': 0.77}, {'connected_gene': 'GC18P022048', 'score': 0.28}]
chr18 GH18I022548 22548618 22548911 0.22 [{'connected_gene': 'ABHD3', 'score': 6.03}, {'connected_gene': 'RPS4XP18', 'score': 0.28}, {'connected_gene': 'GC18P022454', 'score': 0.16}]
chr18 GH18I021701 21701302 21705554 2.01 [{'connected_gene': 'ABHD3', 'score': 560.85}, {'connected_gene': 'MIB1', 'score': 550.77}, {'connected_gene': 'LOC105376866', 'score': 550.77}, {'connected_gene': 'ESCO1', 'score': 16.77}, {'connected_gene': 'SNRPD1', 'score': 5.84}, {'connected_gene': 'MIR320C1', 'score': 0.37}]
chr18 GH18I021990 21990025 21993452 0.99 [{'connected_gene': 'ABHD3', 'score': 6.23}, {'connected_gene': 'LINC01900', 'score': 0.37}, {'connected_gene': 'GC18P021970', 'score': 0.34}, {'connected_gene': 'RNU7-17P', 'score': 0.23}]
chr18 GH18I021439 21439046 21440625 0.72 [{'connected_gene': 'ABHD3', 'score': 7.22}, {'connected_gene': 'GC18M021451', 'score': 0.39}, {'connected_gene': 'ENSG00000265751', 'score': 0.39}, {'connected_gene': 'ENSG00000221139', 'score': 0.39}, {'connected_gene': 'LOC101927521', 'score': 0.39}, {'connected_gene': 'ENSG00000265948', 'score': 0.13}, {'connected_gene': 'GREB1L', 'score': 0.08}]
chr18 GH18I021303 21303056 21304978 0.59 [{'connected_gene': 'ABHD3', 'score': 4.87}, {'connected_gene': 'ENSG00000265948', 'score': 0.39}, {'connected_gene': 'LOC101927496', 'score': 0.21}, {'connected_gene': 'GREB1L', 'score': 0.21}]
chr18 GH18I021958 21957964 21958798 0.69 [{'connected_gene': 'ABHD3', 'score': 6.49}, {'connected_gene': 'GC18P021970', 'score': 0.39}, {'connected_gene': 'RNA5SP451', 'score': 0.31}]
chr18 GH18I021967 21967991 21969028 0.59 [{'connected_gene': 'ABHD3', 'score': 4.44}, {'connected_gene': 'GC18P021970', 'score': 0.77}, {'connected_gene': 'RNA5SP451', 'score': 0.28}]
chr18 GH18I021698 21698860 21700084 1.36 [{'connected_gene': 'ABHD3', 'score': 0.44}, {'connected_gene': 'MIR320C1', 'score': 0.37}]
chr18 GH18I021162 21162940 21165599 0.72 [{'connected_gene': 'ABHD3', 'score': 4.34}, {'connected_gene': 'GC18M021182', 'score': 0.37}, {'connected_gene': 'PIR55500', 'score': 0.29}]
chr18 GH18I021684 21684529 21687851 1.18 [{'connected_gene': 'ESCO1', 'score': 13.36}, {'connected_gene': 'MIB1', 'score': 10.54}, {'connected_gene': 'ABHD3', 'score': 8.61}, {'connected_gene': 'MIR320C1', 'score': 0.77}]
chr18 GH18I022078 22078963 22081884 0.86 [{'connected_gene': 'ESCO1', 'score': 34.81}, {'connected_gene': 'ENSG00000264188', 'score': 10.16}, {'connected_gene': 'ABHD3', 'score': 5.28}, {'connected_gene': 'SNRPD1', 'score': 4.43}, {'connected_gene': 'ENSG00000265656', 'score': 4.19}, {'connected_gene': 'ENSG00000263588', 'score': 0.44}, {'connected_gene': 'GC18P022048', 'score': 0.29}]
chr18 GH18I022562 22562676 22564448 1.25 [{'connected_gene': 'ESCO1', 'score': 25.12}, {'connected_gene': 'ABHD3', 'score': 5.06}, {'connected_gene': 'RPS4XP18', 'score': 0.34}, {'connected_gene': 'GC18P022454', 'score': 0.14}]
chr18 GH18I021995 21995569 22003355 1.27 [{'connected_gene': 'ESCO1', 'score': 12.94}, {'connected_gene': 'ABHD3', 'score': 9.13}, {'connected_gene': 'ENSG00000265656', 'score': 6.4}, {'connected_gene': 'LINC01900', 'score': 0.34}, {'connected_gene': 'GC18P021970', 'score': 0.31}, {'connected_gene': 'RNU7-17P', 'score': 0.26}]
chr18 GH18I021697 21697483 21698529 0.68 [{'connected_gene': 'ESCO1', 'score': 5.07}, {'connected_gene': 'ABHD3', 'score': 0.44}, {'connected_gene': 'MIR320C1', 'score': 0.39}]
chr18 GH18I021598 21598557 21602928 2.31 [{'connected_gene': 'ESCO1', 'score': 555.89}, {'connected_gene': 'GC18P021602', 'score': 550.77}, {'connected_gene': 'MIR320C1', 'score': 10.47}, {'connected_gene': 'MIB1', 'score': 10.37}, {'connected_gene': 'ENSG00000199977', 'score': 10.06}, {'connected_gene': 'ABHD3', 'score': 9.48}, {'connected_gene': 'SNRPD1', 'score': 6.07}, {'connected_gene': 'GC18P021594', 'score': 0.44}, {'connected_gene': 'GC18M021596', 'score': 0.34}]
chr18 GH18I021825 21825590 21833459 0.57 [{'connected_gene': 'MIR133A1HG', 'score': 555.0}, {'connected_gene': 'MIR1-2', 'score': 550.77}, {'connected_gene': 'MIB1', 'score': 17.05}, {'connected_gene': 'MIR320C1', 'score': 10.47}, {'connected_gene': 'ABHD3', 'score': 4.92}, {'connected_gene': 'MIR133A1', 'score': 0.77}, {'connected_gene': 'GC18P021825', 'score': 0.77}]
chr18 GH18I021241 21241185 21243473 1.86 [{'connected_gene': 'LOC101927496', 'score': 550.77}, {'connected_gene': 'GREB1L', 'score': 550.77}, {'connected_gene': 'MIB1', 'score': 9.76}, {'connected_gene': 'ABHD3', 'score': 4.9}]
chr18 GH18I021679 21679993 21683652 0.93 [{'connected_gene': 'MIR320C1', 'score': 550.77}, {'connected_gene': 'MIB1', 'score': 10.25}, {'connected_gene': 'ABHD3', 'score': 8.26}, {'connected_gene': 'SNRPD1', 'score': 6.88}, {'connected_gene': 'ESCO1', 'score': 5.01}, {'connected_gene': 'ENSG00000265656', 'score': 0.44}]
chr18 GH18I021672 21672298 21673622 0.69 [{'connected_gene': 'ENSG00000265656', 'score': 550.77}, {'connected_gene': 'ABHD3', 'score': 9.13}, {'connected_gene': 'SNRPD1', 'score': 5.82}, {'connected_gene': 'ENSG00000264188', 'score': 0.39}]
chr18 GH18I021484 21484328 21487741 0.78 [{'connected_gene': 'ENSG00000221139', 'score': 10.87}, {'connected_gene': 'ABHD3', 'score': 9.23}, {'connected_gene': 'ROCK1', 'score': 4.35}, {'connected_gene': 'LOC101927521', 'score': 0.29}, {'connected_gene': 'GC18P021594', 'score': 0.14}, {'connected_gene': 'GREB1L', 'score': 0.07}]
chr18 GH18I021314 21314033 21317280 0.86 [{'connected_gene': 'ENSG00000265948', 'score': 550.77}, {'connected_gene': 'ABHD3', 'score': 4.9}, {'connected_gene': 'ESCO1', 'score': 3.94}, {'connected_gene': 'LOC101927496', 'score': 0.19}, {'connected_gene': 'GREB1L', 'score': 0.19}]
chr18 GH18I022048 22048727 22049739 0.46 [{'connected_gene': 'GC18P022048', 'score': 550.77}, {'connected_gene': 'ABHD3', 'score': 5.2}, {'connected_gene': 'ENSG00000263588', 'score': 0.28}, {'connected_gene': 'LINC01900', 'score': 0.19}, {'connected_gene': 'GC18P021970', 'score': 0.18}]
chr18 GH18I021390 21390709 21392122 0.78 [{'connected_gene': 'ENSG00000221139', 'score': 10.53}, {'connected_gene': 'ABHD3', 'score': 9.92}, {'connected_gene': 'GC18M021451', 'score': 0.22}, {'connected_gene': 'ENSG00000265751', 'score': 0.22}, {'connected_gene': 'LOC101927521', 'score': 0.22}, {'connected_gene': 'ENSG00000265948', 'score': 0.19}, {'connected_gene': 'GREB1L', 'score': 0.11}]
chr18 GH18I021389 21389484 21390131 0.31 [{'connected_gene': 'ENSG00000221139', 'score': 10.51}, {'connected_gene': 'ABHD3', 'score': 8.76}, {'connected_gene': 'GC18M021451', 'score': 0.21}, {'connected_gene': 'ENSG00000265751', 'score': 0.21}, {'connected_gene': 'LOC101927521', 'score': 0.21}, {'connected_gene': 'ENSG00000265948', 'score': 0.19}, {'connected_gene': 'GREB1L', 'score': 0.11}]
chr18 GH18I021656 21656170 21657377 0.69 [{'connected_gene': 'ENSG00000264188', 'score': 0.44}, {'connected_gene': 'GC18P021649', 'score': 0.44}, {'connected_gene': 'ABHD3', 'score': 0.25}]
chr18 GH18I021663 21663357 21664329 0.54 [{'connected_gene': 'ENSG00000264188', 'score': 550.77}, {'connected_gene': 'ESCO1', 'score': 5.04}, {'connected_gene': 'ENSG00000265656', 'score': 0.44}, {'connected_gene': 'ABHD3', 'score': 0.26}]
chr18 GH18I022043 22043182 22047214 0.91 [{'connected_gene': 'GC18P022044', 'score': 550.77}, {'connected_gene': 'RNU7-17P', 'score': 550.77}, {'connected_gene': 'ABHD3', 'score': 6.28}, {'connected_gene': 'ENSG00000265656', 'score': 4.2}, {'connected_gene': 'GC18P022048', 'score': 0.77}, {'connected_gene': 'LINC01900', 'score': 0.2}, {'connected_gene': 'GC18P021970', 'score': 0.19}]
chr18 GH18I022041 22041324 22042318 0.2 [{'connected_gene': 'GC18P022044', 'score': 550.77}, {'connected_gene': 'RNU7-17P', 'score': 550.77}, {'connected_gene': 'ABHD3', 'score': 4.77}, {'connected_gene': 'LINC01900', 'score': 0.2}, {'connected_gene': 'GC18P021970', 'score': 0.19}]