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
ENST00000355710 [[43572474, 43572779], [43595906, 43596170], [43597789, 43598077], [43600399, 43600641], [43601823, 43602019], [43604478, 43604678], [43606654, 43606913], [43607546, 43607672], [43608300, 43608411], [43609003, 43609123], [43609927, 43610184], [43612031, 43612179], [43613820, 43613928], [43614978, 43615193], [43615528, 43615651], [43617393, 43617464], [43619118, 43619256], [43620330, 43620430], [43622022, 43622170], [43623559, 43625799]] [[43572706, 43572779], [43595906, 43596170], [43597789, 43598077], [43600399, 43600641], [43601823, 43602019], [43604478, 43604678], [43606654, 43606913], [43607546, 43607672], [43608300, 43608411], [43609003, 43609123], [43609927, 43610184], [43612031, 43612179], [43613820, 43613928], [43614978, 43615193], [43615528, 43615651], [43617393, 43617464], [43619118, 43619256], [43620330, 43620430], [43622022, 43622170], [43623559, 43623717]]
ENST00000498820 [[43572521, 43572779], [43607546, 43607672], [43608300, 43608411], [43609003, 43609123], [43609927, 43610041]] [[43572706, 43572779], [43607546, 43607672], [43608300, 43608411], [43609003, 43609123], [43609927, 43610041]]
ENST00000340058 [[43572526, 43572779], [43595906, 43596170], [43597789, 43598077], [43600399, 43600641], [43601823, 43602019], [43604478, 43604678], [43606654, 43606913], [43607546, 43607672], [43608300, 43608411], [43609003, 43609123], [43609927, 43610184], [43612031, 43612179], [43613820, 43613928], [43614978, 43615193], [43615528, 43615651], [43617393, 43617464], [43619118, 43619256], [43620330, 43620430], [43622022, 43622952]] [[43572706, 43572779], [43595906, 43596170], [43597789, 43598077], [43600399, 43600641], [43601823, 43602019], [43604478, 43604678], [43606654, 43606913], [43607546, 43607672], [43608300, 43608411], [43609003, 43609123], [43609927, 43610184], [43612031, 43612179], [43613820, 43613928], [43614978, 43615193], [43615528, 43615651], [43617393, 43617464], [43619118, 43619256], [43620330, 43620430], [43622022, 43622202]]
ENST00000479913 [[43600179, 43600641], [43601823, 43601938]] None
NM_020630 [[43572516, 43572779], [43595906, 43596170], [43597789, 43598077], [43600399, 43600641], [43601823, 43602019], [43604478, 43604678], [43606654, 43606913], [43607546, 43607672], [43608300, 43608411], [43609003, 43609123], [43609927, 43610184], [43612031, 43612179], [43613820, 43613928], [43614978, 43615193], [43615528, 43615651], [43617393, 43617464], [43619118, 43619256], [43620330, 43620430], [43622022, 43622952]] [[43572706, 43572779], [43595906, 43596170], [43597789, 43598077], [43600399, 43600641], [43601823, 43602019], [43604478, 43604678], [43606654, 43606913], [43607546, 43607672], [43608300, 43608411], [43609003, 43609123], [43609927, 43610184], [43612031, 43612179], [43613820, 43613928], [43614978, 43615193], [43615528, 43615651], [43617393, 43617464], [43619118, 43619256], [43620330, 43620430], [43622022, 43622202]]
NM_020975 [[43572516, 43572779], [43595906, 43596170], [43597789, 43598077], [43600399, 43600641], [43601823, 43602019], [43604478, 43604678], [43606654, 43606913], [43607546, 43607672], [43608300, 43608411], [43609003, 43609123], [43609927, 43610184], [43612031, 43612179], [43613820, 43613928], [43614978, 43615193], [43615528, 43615651], [43617393, 43617464], [43619118, 43619256], [43620330, 43620430], [43622022, 43622170], [43623559, 43625799]] [[43572706, 43572779], [43595906, 43596170], [43597789, 43598077], [43600399, 43600641], [43601823, 43602019], [43604478, 43604678], [43606654, 43606913], [43607546, 43607672], [43608300, 43608411], [43609003, 43609123], [43609927, 43610184], [43612031, 43612179], [43613820, 43613928], [43614978, 43615193], [43615528, 43615651], [43617393, 43617464], [43619118, 43619256], [43620330, 43620430], [43622022, 43622170], [43623559, 43623717]]
Promoter
Chrom Start End Description
chr10 43572508 43572523 CAGE_peak_1_at_RET_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I043091 43091801 43092364 0.2 [{'connected_gene': 'ZNF33B', 'score': 4.13}, {'connected_gene': 'PIR60596', 'score': 0.44}, {'connected_gene': 'RET', 'score': 0.37}]
chr10 GH10I042951 42951401 42953179 1.28 [{'connected_gene': 'RET', 'score': 7.35}, {'connected_gene': 'ENSG00000259869', 'score': 5.96}, {'connected_gene': 'LINC00839', 'score': 5.82}, {'connected_gene': 'ZNF33B', 'score': 4.45}, {'connected_gene': 'LINC01264', 'score': 0.31}, {'connected_gene': 'GC10M042909', 'score': 0.26}]
chr10 GH10I042932 42932567 42934915 0.83 [{'connected_gene': 'RET', 'score': 11.51}, {'connected_gene': 'CSGALNACT2', 'score': 8.59}, {'connected_gene': 'LOC441666', 'score': 7.65}, {'connected_gene': 'ENSG00000259869', 'score': 6.57}, {'connected_gene': 'ZNF33B', 'score': 4.25}, {'connected_gene': 'GC10M042909', 'score': 0.34}, {'connected_gene': 'LINC01264', 'score': 0.25}]
chr10 GH10I043077 43076493 43076582 0.59 [{'connected_gene': 'RET', 'score': 550.77}, {'connected_gene': 'CSGALNACT2', 'score': 18.58}, {'connected_gene': 'GC10M043057', 'score': 0.37}]
chr10 GH10I043076 43076800 43077601 1.45 [{'connected_gene': 'RET', 'score': 550.77}, {'connected_gene': 'CSGALNACT2', 'score': 20.74}, {'connected_gene': 'PIR60596', 'score': 0.34}]
chr10 GH10I043082 43082213 43082362 0.54 [{'connected_gene': 'RET', 'score': 0.44}, {'connected_gene': 'PIR60596', 'score': 0.37}]
chr10 GH10I043104 43104593 43106142 1.72 [{'connected_gene': 'CSGALNACT2', 'score': 32.12}, {'connected_gene': 'RET', 'score': 12.77}, {'connected_gene': 'RASGEF1A', 'score': 6.32}, {'connected_gene': 'PIR60596', 'score': 0.77}, {'connected_gene': 'GC10M043121', 'score': 0.34}]
chr10 GH10I043056 43056442 43058441 0.58 [{'connected_gene': 'CSGALNACT2', 'score': 18.03}, {'connected_gene': 'RET', 'score': 5.82}, {'connected_gene': 'GC10M043057', 'score': 0.77}, {'connected_gene': 'MIR5100', 'score': 0.22}]
chr10 GH10I043086 43086364 43087440 0.51 [{'connected_gene': 'CSGALNACT2', 'score': 20.51}, {'connected_gene': 'RET', 'score': 0.44}, {'connected_gene': 'PIR60596', 'score': 0.39}]
chr10 GH10I043109 43109913 43111660 0.89 [{'connected_gene': 'CSGALNACT2', 'score': 32.65}, {'connected_gene': 'PIR60596', 'score': 0.44}, {'connected_gene': 'GC10M043121', 'score': 0.37}, {'connected_gene': 'RET', 'score': 0.29}]
chr10 GH10I043128 43128664 43130122 1.18 [{'connected_gene': 'CSGALNACT2', 'score': 49.03}, {'connected_gene': 'GC10M043121', 'score': 0.77}, {'connected_gene': 'ENSG00000273008', 'score': 0.44}, {'connected_gene': 'RET', 'score': 0.23}]
chr10 GH10I043120 43120301 43122682 1.31 [{'connected_gene': 'CSGALNACT2', 'score': 63.45}, {'connected_gene': 'HNRNPF', 'score': 4.22}, {'connected_gene': 'GC10M043121', 'score': 0.77}, {'connected_gene': 'PIR60596', 'score': 0.34}, {'connected_gene': 'RET', 'score': 0.26}]
chr10 GH10I043126 43126601 43127400 0.72 [{'connected_gene': 'GC10M043121', 'score': 550.77}, {'connected_gene': 'CSGALNACT2', 'score': 52.66}, {'connected_gene': 'ENSG00000273008', 'score': 0.39}, {'connected_gene': 'RET', 'score': 0.25}]

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