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
ENST00000274901 [[55299166, 55300561], [55304231, 55304357], [55360216, 55360405], [55364033, 55364097], [55378845, 55378994], [55381305, 55381401], [55406526, 55406634], [55406857, 55406938], [55443745, 55444012]] [[55300459, 55300561], [55304231, 55304357], [55360216, 55360405], [55364033, 55364097], [55378845, 55378994], [55381305, 55381401], [55406526, 55406634], [55406857, 55406938], [55443745, 55443853]]
ENST00000398661 [[55299172, 55300561], [55304231, 55304357], [55360216, 55360405], [55364033, 55364097], [55378845, 55378994], [55381305, 55381401], [55406526, 55406634], [55406857, 55406938], [55441875, 55441965], [55443745, 55443985]] [[55300459, 55300561], [55304231, 55304357], [55360216, 55360405], [55364033, 55364097], [55378845, 55378994], [55381305, 55381401], [55406526, 55406634], [55406857, 55406938], [55441875, 55441965], [55443745, 55443853]]
ENST00000370852 [[55299177, 55300561], [55304231, 55304357], [55360216, 55360405], [55364033, 55364097], [55378845, 55378994], [55381305, 55381401], [55406526, 55406634], [55406857, 55406938], [55428616, 55428712], [55443745, 55443897]] [[55428658, 55428712], [55443745, 55443853]]
ENST00000370850 [[55300113, 55300561], [55304231, 55304357], [55360216, 55360405], [55406526, 55406634], [55406857, 55406938], [55443745, 55443964]] [[55300459, 55300561], [55304231, 55304357], [55360216, 55360405], [55406526, 55406634], [55406857, 55406938], [55443745, 55443853]]
ENST00000508459 [[55300150, 55300561], [55304231, 55304357], [55406526, 55406634], [55406857, 55406938], [55443745, 55443903]] [[55300459, 55300561], [55304231, 55304357], [55406526, 55406634], [55406857, 55406938], [55443745, 55443853]]
ENST00000308161 [[55300197, 55300561], [55304231, 55304357], [55360216, 55360405], [55364033, 55364097], [55378845, 55378994], [55406526, 55406634], [55406857, 55406938], [55443745, 55443978]] [[55300459, 55300561], [55304231, 55304357], [55360216, 55360405], [55364033, 55364097], [55378845, 55378994], [55406526, 55406634], [55406857, 55406938], [55443745, 55443853]]
ENST00000428842 [[55376872, 55378994], [55406526, 55406634], [55406857, 55406938], [55443745, 55443871]] [[55378835, 55378994], [55406526, 55406634], [55406857, 55406938], [55443745, 55443853]]
ENST00000515546 [[55381365, 55381401], [55406526, 55406634], [55406857, 55406938], [55431301, 55431426], [55443745, 55443964]] [[55431414, 55431426], [55443745, 55443853]]
ENST00000358072 [[55428658, 55428712], [55443745, 55443893]] [[55428658, 55428712], [55443745, 55443853]]
ENST00000507223 [[55300216, 55300561], [55304231, 55304357], [55304485, 55304526]] None
NM_019036 [[55299170, 55300561], [55304231, 55304357], [55360216, 55360405], [55364033, 55364097], [55378845, 55378994], [55381305, 55381401], [55406526, 55406634], [55406857, 55406938], [55441875, 55441965], [55443745, 55444012]] [[55300459, 55300561], [55304231, 55304357], [55360216, 55360405], [55364033, 55364097], [55378845, 55378994], [55381305, 55381401], [55406526, 55406634], [55406857, 55406938], [55441875, 55441965], [55443745, 55443853]]
NM_001287746 [[55299170, 55300561], [55304231, 55304357], [55360216, 55360405], [55364033, 55364097], [55378845, 55378994], [55381305, 55381401], [55406526, 55406634], [55406857, 55406938], [55428616, 55428712], [55443745, 55444012]] [[55300459, 55300561], [55304231, 55304357], [55360216, 55360405], [55364033, 55364097], [55378845, 55378994], [55381305, 55381401]]
NM_001042406 [[55299170, 55300561], [55304231, 55304357], [55360216, 55360405], [55364033, 55364097], [55378845, 55378994], [55381305, 55381401], [55406526, 55406634], [55406857, 55406938], [55443745, 55444012]] [[55300459, 55300561], [55304231, 55304357], [55360216, 55360405], [55364033, 55364097], [55378845, 55378994], [55381305, 55381401], [55406526, 55406634], [55406857, 55406938], [55443745, 55443853]]
NM_001287741 [[55299170, 55300561], [55304231, 55304357], [55360216, 55360405], [55364033, 55364097], [55378845, 55378994], [55406526, 55406634], [55406857, 55406938], [55443745, 55444012]] [[55300459, 55300561], [55304231, 55304357], [55360216, 55360405], [55364033, 55364097], [55378845, 55378994], [55406526, 55406634], [55406857, 55406938], [55443745, 55443853]]
NM_001287753 [[55299170, 55300561], [55304231, 55304357], [55360216, 55360405], [55406526, 55406634], [55406857, 55406938], [55443745, 55444012]] [[55300459, 55300561], [55304231, 55304357], [55360216, 55360405], [55406526, 55406634], [55406857, 55406938], [55443745, 55443853]]
NR_109869 [[55299170, 55300561], [55304231, 55304357], [55406526, 55406634], [55406857, 55406938], [55443745, 55444012]] None
NR_109867 [[55376872, 55378994], [55406526, 55406634], [55406857, 55406938], [55443745, 55444012]] None
Promoter
Chrom Start End Description
chr6 55443831 55443908 CAGE_peak_1_at_HMGCLL1_5end
chr6 55443958 55443974 CAGE_peak_4_at_HMGCLL1_5end
chr6 55443975 55443998 CAGE_peak_2_at_HMGCLL1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I055578 55578601 55579517 1.87 [{'connected_gene': 'HMGCLL1', 'score': 563.88}, {'connected_gene': 'GC06P055585', 'score': 0.44}, {'connected_gene': 'GC06M055481', 'score': 0.17}]
chr6 GH06I055704 55704063 55705229 0.46 [{'connected_gene': 'HMGCLL1', 'score': 10.93}, {'connected_gene': 'PIR48007', 'score': 0.77}, {'connected_gene': 'GC06P055722', 'score': 0.37}]
chr6 GH06I055553 55553797 55553928 0.22 [{'connected_gene': 'HMGCLL1', 'score': 11.44}, {'connected_gene': 'GC06P055585', 'score': 0.29}, {'connected_gene': 'GC06M055481', 'score': 0.21}]
chr6 GH06I055705 55705443 55705592 0.2 [{'connected_gene': 'HMGCLL1', 'score': 10.9}, {'connected_gene': 'PIR48007', 'score': 0.44}, {'connected_gene': 'GC06P055722', 'score': 0.37}]
chr6 GH06I055635 55635066 55638228 0.68 [{'connected_gene': 'HMGCLL1', 'score': 10.92}, {'connected_gene': 'ENSG00000224984', 'score': 4.58}, {'connected_gene': 'GC06P055635', 'score': 0.39}, {'connected_gene': 'GC06P055628', 'score': 0.39}, {'connected_gene': 'GC06P055631', 'score': 0.39}, {'connected_gene': 'GC06P055627', 'score': 0.39}, {'connected_gene': 'GC06P055632', 'score': 0.39}, {'connected_gene': 'GC06P055633', 'score': 0.39}, {'connected_gene': 'GC06P055634', 'score': 0.39}, {'connected_gene': 'GC06P055630', 'score': 0.39}, {'connected_gene': 'GC06P055629', 'score': 0.39}]
chr6 GH06I055363 55363236 55363252 0.22 [{'connected_gene': 'GFRAL', 'score': 7.32}, {'connected_gene': 'HMGCLL1', 'score': 1.32}, {'connected_gene': 'GC06M055404', 'score': 0.26}]
chr6 GH06I055665 55665552 55666457 0.2 [{'connected_gene': 'ENSG00000224984', 'score': 4.48}, {'connected_gene': 'HMGCLL1', 'score': 0.39}, {'connected_gene': 'GC06P055635', 'score': 0.28}, {'connected_gene': 'GC06P055628', 'score': 0.28}, {'connected_gene': 'GC06P055631', 'score': 0.28}, {'connected_gene': 'GC06P055627', 'score': 0.28}, {'connected_gene': 'GC06P055632', 'score': 0.28}, {'connected_gene': 'GC06P055633', 'score': 0.28}, {'connected_gene': 'GC06P055634', 'score': 0.28}, {'connected_gene': 'GC06P055630', 'score': 0.28}, {'connected_gene': 'GC06P055629', 'score': 0.28}]
chr6 GH06I055666 55666703 55666852 0.2 [{'connected_gene': 'ENSG00000224984', 'score': 4.48}, {'connected_gene': 'HMGCLL1', 'score': 0.39}, {'connected_gene': 'GC06P055635', 'score': 0.26}, {'connected_gene': 'GC06P055628', 'score': 0.26}, {'connected_gene': 'GC06P055631', 'score': 0.26}, {'connected_gene': 'GC06P055627', 'score': 0.26}, {'connected_gene': 'GC06P055632', 'score': 0.26}, {'connected_gene': 'GC06P055633', 'score': 0.26}, {'connected_gene': 'GC06P055634', 'score': 0.26}, {'connected_gene': 'GC06P055630', 'score': 0.26}, {'connected_gene': 'GC06P055629', 'score': 0.26}]
chr6 GH06I055565 55565693 55566876 0.2 [{'connected_gene': 'GC06P055585', 'score': 0.37}, {'connected_gene': 'GC06M055481', 'score': 0.18}, {'connected_gene': 'HMGCLL1', 'score': 0.14}]
chr6 GH06I055559 55559697 55560803 0.2 [{'connected_gene': 'GC06P055585', 'score': 0.31}, {'connected_gene': 'GC06M055481', 'score': 0.19}, {'connected_gene': 'HMGCLL1', 'score': 0.13}]
chr6 GH06I055568 55568213 55570454 0.38 [{'connected_gene': 'GC06P055585', 'score': 0.37}, {'connected_gene': 'GC06M055481', 'score': 0.18}, {'connected_gene': 'HMGCLL1', 'score': 0.14}]
chr6 GH06I055628 55628258 55628270 0.22 [{'connected_gene': 'GC06P055640', 'score': 550.77}, {'connected_gene': 'GC06P055631', 'score': 550.77}, {'connected_gene': 'GC06P055627', 'score': 550.77}, {'connected_gene': 'GC06P055636', 'score': 550.77}, {'connected_gene': 'GC06P055637', 'score': 550.77}, {'connected_gene': 'GC06P055630', 'score': 550.77}, {'connected_gene': 'PIR44724', 'score': 550.77}, {'connected_gene': 'GC06P055628', 'score': 550.77}, {'connected_gene': 'GC06P055635', 'score': 550.77}, {'connected_gene': 'GC06P055641', 'score': 550.77}, {'connected_gene': 'GC06P055642', 'score': 550.77}, {'connected_gene': 'GC06P055632', 'score': 550.77}, {'connected_gene': 'GC06P055643', 'score': 550.77}, {'connected_gene': 'GC06P055633', 'score': 550.77}, {'connected_gene': 'GC06P055639', 'score': 550.77}, {'connected_gene': 'GC06P055634', 'score': 550.77}, {'connected_gene': 'GC06P055638', 'score': 550.77}, {'connected_gene': 'GC06P055629', 'score': 550.77}, {'connected_gene': 'GFRAL', 'score': 23.43}, {'connected_gene': 'HMGCLL1', 'score': 0.23}]

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