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
ENST00000587848 [[12093851, 12094234], [12095169, 12095284], [12095435, 12095609], [12096194, 12096301], [12097638, 12097776], [12099613, 12099681], [12103156, 12103227], [12107293, 12107466], [12115086, 12115120], [12115391, 12115533], [12122301, 12122515], [12124135, 12124319], [12125458, 12126382], [12127746, 12127938]] [[12094016, 12094234], [12095169, 12095284], [12095435, 12095609], [12096194, 12096301], [12097638, 12097776], [12099613, 12099681], [12103156, 12103227], [12107293, 12107466], [12115086, 12115120], [12115391, 12115533], [12122301, 12122515], [12124135, 12124319], [12125458, 12126382], [12127746, 12127938]]
ENST00000314074 [[12094058, 12094234], [12095169, 12095284], [12095435, 12095609], [12096194, 12096301], [12097638, 12097776], [12099613, 12099681], [12103156, 12103227], [12107293, 12107466], [12115086, 12115120], [12115391, 12115533], [12122301, 12122515], [12124135, 12124319], [12125458, 12126382], [12127746, 12129746]] [[12094058, 12094234], [12095169, 12095284], [12095435, 12095609], [12096194, 12096301], [12097638, 12097776], [12099613, 12099681], [12103156, 12103227], [12107293, 12107466], [12115086, 12115120], [12115391, 12115533], [12122301, 12122515], [12124135, 12124319], [12125458, 12126382], [12127746, 12127938]]
ENST00000418274 [[12102704, 12102787], [12103156, 12103227], [12107293, 12107466], [12115086, 12115120], [12115391, 12115533], [12122301, 12122515], [12124135, 12124319], [12125458, 12126382], [12127746, 12129748]] None
NM_001277333 [[12093847, 12094234], [12095169, 12095284], [12095435, 12095609], [12096194, 12096301], [12097638, 12097776], [12099613, 12099681], [12103156, 12103227], [12107293, 12107466], [12115086, 12115120], [12115391, 12115533], [12122301, 12122515], [12124135, 12124319], [12125458, 12126382], [12127746, 12129763]] [[12094016, 12094234], [12095169, 12095284], [12095435, 12095609], [12096194, 12096301], [12097638, 12097776], [12099613, 12099681], [12103156, 12103227], [12107293, 12107466], [12115086, 12115120], [12115391, 12115533], [12122301, 12122515], [12124135, 12124319], [12125458, 12126382], [12127746, 12127938]]

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr18 GH18I012076 12076201 12077000 0.86 [{'connected_gene': 'LOC100996333', 'score': 550.77}, {'connected_gene': 'ENSG00000267733', 'score': 20.27}, {'connected_gene': 'ANKRD62', 'score': 0.77}, {'connected_gene': 'GC18P012630', 'score': 0.31}]
chr18 GH18I012093 12093800 12093859 0.73 [{'connected_gene': 'LOC100533852', 'score': 550.77}, {'connected_gene': 'ANKRD62', 'score': 550.34}, {'connected_gene': 'ENSG00000267733', 'score': 8.13}, {'connected_gene': 'GC18P012588', 'score': 0.77}, {'connected_gene': 'GC18P012630', 'score': 0.26}]
chr18 GH18I012079 12079355 12080633 0.63 [{'connected_gene': 'ENSG00000267722', 'score': 550.77}, {'connected_gene': 'ENSG00000267733', 'score': 20.93}, {'connected_gene': 'LOC100996333', 'score': 0.77}, {'connected_gene': 'ANKRD62', 'score': 0.44}, {'connected_gene': 'GC18P012630', 'score': 0.31}]
chr18 GH18I012085 12085934 12087015 0.52 [{'connected_gene': 'ENSG00000267733', 'score': 21.48}, {'connected_gene': 'ENSG00000267722', 'score': 0.77}, {'connected_gene': 'LOC100533852', 'score': 0.44}, {'connected_gene': 'ANKRD62', 'score': 0.39}, {'connected_gene': 'GC18P012630', 'score': 0.28}]