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
ENST00000281741 [[52897307, 52899305], [52905921, 52906112], [52907281, 52907442], [52922041, 52922180], [52923807, 52923892], [52936754, 52936891], [52937229, 52937398], [52948947, 52949007], [52949539, 52949683], [52955080, 52955204], [52957108, 52957169], [52957556, 52957723], [52977957, 52978108], [52981597, 52981688], [52985889, 52986011], [53003436, 53003511], [53004316, 53004390], [53009088, 53009171], [53010115, 53010348], [53010981, 53011089], [53019033, 53019224]] [[52899021, 52899305], [52905921, 52906112], [52907281, 52907442], [52922041, 52922180], [52923807, 52923892], [52936754, 52936891], [52937229, 52937398], [52948947, 52949007], [52949539, 52949683], [52955080, 52955204], [52957108, 52957169], [52957556, 52957723], [52977957, 52978108], [52981597, 52981688], [52985889, 52986011], [53003436, 53003511], [53004316, 53004390], [53009088, 53009171], [53010115, 53010275]]
ENST00000554399 [[52905976, 52906112], [52907281, 52907442], [53019033, 53019240]] None
ENST00000555312 [[52922158, 52922180], [52923807, 52923892], [52929529, 52929688], [52936754, 52936891], [52937229, 52937392]] [[52929665, 52929688], [52936754, 52936891], [52937229, 52937392]]
ENST00000557374 [[52955080, 52955204], [52957108, 52957169], [52957556, 52957723], [53019033, 53019223]] [[52955080, 52955138]]
NM_020784 [[52897307, 52899305], [52905921, 52906112], [52907281, 52907442], [52922041, 52922180], [52923807, 52923892], [52936754, 52936891], [52937229, 52937398], [52948947, 52949007], [52949539, 52949683], [52955080, 52955204], [52957108, 52957169], [52957556, 52957723], [52977957, 52978108], [52981597, 52981688], [52985889, 52986011], [53003436, 53003511], [53004316, 53004390], [53009088, 53009171], [53010115, 53010348], [53010981, 53011089], [53019033, 53019301]] [[52899021, 52899305], [52905921, 52906112], [52907281, 52907442], [52922041, 52922180], [52923807, 52923892], [52936754, 52936891], [52937229, 52937398], [52948947, 52949007], [52949539, 52949683], [52955080, 52955204], [52957108, 52957169], [52957556, 52957723], [52977957, 52978108], [52981597, 52981688], [52985889, 52986011], [53003436, 53003511], [53004316, 53004390], [53009088, 53009171], [53010115, 53010275]]
NM_001160047 [[52897307, 52899305], [52905921, 52906112], [52907281, 52907442], [52922041, 52922180], [52923807, 52923892], [52936754, 52936891], [52937229, 52937398], [52948947, 52949007], [52949539, 52949683], [52955080, 52955204], [52957108, 52957169], [52957556, 52957723], [52977957, 52978108], [52981597, 52981688], [52985889, 52985996], [53003436, 53003511], [53004316, 53004390], [53009088, 53009171], [53010115, 53010348], [53010981, 53011089], [53019033, 53019301]] [[52899021, 52899305], [52905921, 52906112], [52907281, 52907442], [52922041, 52922180], [52923807, 52923892], [52936754, 52936891], [52937229, 52937398], [52948947, 52949007], [52949539, 52949683], [52955080, 52955204], [52957108, 52957169], [52957556, 52957723], [52977957, 52978108], [52981597, 52981688], [52985889, 52985996], [53003436, 53003511], [53004316, 53004390], [53009088, 53009171], [53010115, 53010275]]
Promoter
Chrom Start End Description
chr14 53019211 53019269 CAGE_peak_1_at_TXNDC16_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr14 GH14I052904 52904437 52909443 1.02 [{'connected_gene': 'TXNDC16', 'score': 6.88}, {'connected_gene': 'STYX', 'score': 6.13}, {'connected_gene': 'LOC101927620', 'score': 4.17}, {'connected_gene': 'GC14P052872', 'score': 0.28}, {'connected_gene': 'FERMT2', 'score': 0.25}, {'connected_gene': 'LOC105370500', 'score': 0.13}]
chr14 GH14I052455 52455031 52456710 0.31 [{'connected_gene': 'TXNDC16', 'score': 11.54}, {'connected_gene': 'PTGER2', 'score': 10.88}, {'connected_gene': 'ERO1A', 'score': 5.71}, {'connected_gene': 'GC14M052143', 'score': 0.44}]
chr14 GH14I052457 52457285 52459366 1.16 [{'connected_gene': 'TXNDC16', 'score': 11.54}, {'connected_gene': 'PTGER2', 'score': 11.03}, {'connected_gene': 'ERO1A', 'score': 5.81}, {'connected_gene': 'GC14M052143', 'score': 0.44}]
chr14 GH14I052551 52551039 52554498 2.31 [{'connected_gene': 'TXNDC16', 'score': 565.8}, {'connected_gene': 'GPR137C', 'score': 556.97}, {'connected_gene': 'GC14P052555', 'score': 550.77}, {'connected_gene': 'GC14P052554', 'score': 550.77}, {'connected_gene': 'RTRAF', 'score': 11.62}, {'connected_gene': 'ERO1A', 'score': 7.22}, {'connected_gene': 'PTGDR', 'score': 1.99}]
chr14 GH14I052538 52538601 52538800 0.2 [{'connected_gene': 'TXNDC16', 'score': 0.39}, {'connected_gene': 'GC14M052143', 'score': 0.17}]
chr14 GH14I052473 52473683 52473832 0.54 [{'connected_gene': 'PTGER2', 'score': 12.08}, {'connected_gene': 'TXNDC16', 'score': 10.31}, {'connected_gene': 'GPR137C', 'score': 10.31}, {'connected_gene': 'GC14M052143', 'score': 0.34}]
chr14 GH14I052311 52311129 52319794 2.38 [{'connected_gene': 'PTGER2', 'score': 572.63}, {'connected_gene': 'GNG2', 'score': 8.35}, {'connected_gene': 'TXNDC16', 'score': 4.94}, {'connected_gene': 'RTRAF', 'score': 4.67}, {'connected_gene': 'GC14P052338', 'score': 0.34}, {'connected_gene': 'GC14M052143', 'score': 0.12}]
chr14 GH14I052324 52324059 52329101 1.47 [{'connected_gene': 'PTGER2', 'score': 24.0}, {'connected_gene': 'GNG2', 'score': 7.96}, {'connected_gene': 'TXNDC16', 'score': 5.33}, {'connected_gene': 'GC14P052338', 'score': 0.39}, {'connected_gene': 'GC14M052143', 'score': 0.13}]
chr14 GH14I052353 52353865 52356446 1.02 [{'connected_gene': 'PTGER2', 'score': 17.29}, {'connected_gene': 'GPR137C', 'score': 4.51}, {'connected_gene': 'TXNDC16', 'score': 4.48}, {'connected_gene': 'GC14P052338', 'score': 0.37}, {'connected_gene': 'GC14M052426', 'score': 0.19}, {'connected_gene': 'GC14M052143', 'score': 0.15}]