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
ENST00000310974 [[34968487, 34971341], [34977605, 34977731], [34978887, 34978987], [34979764, 34979939], [34981376, 34981496], [34982226, 34982251], [34985278, 34985328], [34987241, 34987313], [34989408, 34989510], [34994309, 34994390], [34994919, 34994979], [34997595, 34997682], [35006505, 35006583], [35009044, 35009144], [35013125, 35013217], [35029495, 35029553], [35050079, 35050173], [35050941, 35051062], [35053179, 35053317], [35057493, 35057581], [35058183, 35058208], [35077429, 35077653]] [[34971184, 34971341], [34977605, 34977731], [34978887, 34978987], [34979764, 34979939], [34981376, 34981496], [34982226, 34982251], [34985278, 34985328], [34987241, 34987313], [34989408, 34989510], [34994309, 34994390], [34994919, 34994979], [34997595, 34997682], [35006505, 35006583], [35009044, 35009144], [35013125, 35013217], [35029495, 35029553], [35050079, 35050173], [35050941, 35051062], [35053179, 35053317], [35057493, 35057581], [35058183, 35058208], [35077429, 35077508]]
ENST00000446375 [[34985294, 34985328], [34987241, 34987313], [34989408, 34989510], [34994309, 34994390], [34994919, 34994979], [35006505, 35006583], [35009044, 35009144], [35013125, 35013217]] [[34985294, 34985328], [34987241, 34987313], [34989408, 34989510], [34994309, 34994390], [34994919, 34994979], [35006505, 35006583], [35009044, 35009144], [35013125, 35013217]]
ENST00000462134 [[34994940, 34994979], [35006505, 35006583], [35009044, 35009144], [35013125, 35013217], [35027581, 35027846]] None
ENST00000428054 [[34971179, 34971341], [34978887, 34978980]] [[34971184, 34971341], [34978887, 34978980]]
ENST00000493989 [[34994157, 34994390], [34994919, 34994979]] None
ENST00000463538 [[35013124, 35013217], [35029495, 35029553], [35040004, 35040314]] None
ENST00000481923 [[35050079, 35050173], [35050941, 35051062], [35053179, 35053317], [35057493, 35057581], [35058183, 35058208], [35077783, 35077883]] None
NM_015283 [[34968492, 34971341], [34977605, 34977731], [34978887, 34978987], [34979764, 34979939], [34981376, 34981496], [34982226, 34982251], [34985278, 34985328], [34987241, 34987313], [34989408, 34989510], [34994309, 34994390], [34994919, 34994979], [34997595, 34997682], [35006505, 35006583], [35009044, 35009144], [35013125, 35013217], [35029495, 35029553], [35050079, 35050173], [35050941, 35051062], [35053179, 35053317], [35057493, 35057581], [35058183, 35058208], [35077429, 35077653]] [[34971184, 34971341], [34977605, 34977731], [34978887, 34978987], [34979764, 34979939], [34981376, 34981496], [34982226, 34982251], [34985278, 34985328], [34987241, 34987313], [34989408, 34989510], [34994309, 34994390], [34994919, 34994979], [34997595, 34997682], [35006505, 35006583], [35009044, 35009144], [35013125, 35013217], [35029495, 35029553], [35050079, 35050173], [35050941, 35051062], [35053179, 35053317], [35057493, 35057581], [35058183, 35058208], [35077429, 35077508]]

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr7 GH07I035248 35248510 35250513 1.14 [{'connected_gene': 'TBX20', 'score': 6.08}, {'connected_gene': 'DPY19L1', 'score': 4.06}, {'connected_gene': 'GC07M035200', 'score': 0.23}, {'connected_gene': 'DPY19L2P1', 'score': 0.21}]
chr7 GH07I035253 35253563 35254701 1.46 [{'connected_gene': 'TBX20', 'score': 556.08}, {'connected_gene': 'DPY19L1', 'score': 5.27}, {'connected_gene': 'GC07M035200', 'score': 0.25}, {'connected_gene': 'DPY19L2P1', 'score': 0.2}]
chr7 GH07I035185 35185601 35187086 1.34 [{'connected_gene': 'DPY19L2P1', 'score': 550.77}, {'connected_gene': 'DPY19L1', 'score': 4.35}, {'connected_gene': 'TBX20', 'score': 0.2}]
chr7 GH07I034747 34747267 34749926 1.38 [{'connected_gene': 'NPSR1', 'score': 10.82}, {'connected_gene': 'DPY19L1', 'score': 4.52}, {'connected_gene': 'NCAPD2P1', 'score': 0.77}, {'connected_gene': 'RPL7P31', 'score': 0.28}, {'connected_gene': 'NPSR1-AS1', 'score': 0.13}]
chr7 GH07I035241 35241838 35243524 0.31 [{'connected_gene': 'DPY19L1', 'score': 9.43}, {'connected_gene': 'TBX20', 'score': 5.7}, {'connected_gene': 'DPY19L2P1', 'score': 0.22}, {'connected_gene': 'GC07M035200', 'score': 0.22}]
chr7 GH07I035250 35250777 35251340 0.38 [{'connected_gene': 'DPY19L1', 'score': 8.01}, {'connected_gene': 'TBX20', 'score': 0.77}, {'connected_gene': 'GC07M035200', 'score': 0.25}, {'connected_gene': 'DPY19L2P1', 'score': 0.21}]
chr7 GH07I035238 35238728 35239911 0.2 [{'connected_gene': 'DPY19L1', 'score': 9.43}, {'connected_gene': 'TBX20', 'score': 5.7}, {'connected_gene': 'DPY19L2P1', 'score': 0.23}, {'connected_gene': 'GC07M035200', 'score': 0.21}]
chr7 GH07I035302 35302867 35303499 0.2 [{'connected_gene': 'DPY19L1', 'score': 5.35}, {'connected_gene': 'GC07M035200', 'score': 0.77}, {'connected_gene': 'LOC401324', 'score': 0.39}]
chr7 GH07I035002 35002543 35005974 1.31 [{'connected_gene': 'DPY19L1', 'score': 7.7}, {'connected_gene': 'LOC105375228', 'score': 0.29}, {'connected_gene': 'GC07M034966', 'score': 0.22}, {'connected_gene': 'MIR548N', 'score': 0.21}]
chr7 GH07I035024 35024449 35027432 1 [{'connected_gene': 'DPY19L1', 'score': 15.16}, {'connected_gene': 'LOC105375228', 'score': 0.44}, {'connected_gene': 'GC07M034966', 'score': 0.28}, {'connected_gene': 'MIR548N', 'score': 0.17}]
chr7 GH07I035013 35013006 35013497 0.2 [{'connected_gene': 'DPY19L1', 'score': 5.86}, {'connected_gene': 'LOC105375228', 'score': 0.34}, {'connected_gene': 'GC07M034966', 'score': 0.25}, {'connected_gene': 'MIR548N', 'score': 0.19}]
chr7 GH07I034990 34990646 34992959 1.11 [{'connected_gene': 'DPY19L1', 'score': 6.23}, {'connected_gene': 'LOC105375228', 'score': 0.26}, {'connected_gene': 'MIR548N', 'score': 0.23}, {'connected_gene': 'GC07M034966', 'score': 0.19}]
chr7 GH07I035014 35014826 35016304 0.92 [{'connected_gene': 'DPY19L1', 'score': 6.5}, {'connected_gene': 'LOC105375228', 'score': 0.37}, {'connected_gene': 'GC07M034966', 'score': 0.25}, {'connected_gene': 'MIR548N', 'score': 0.19}]
chr7 GH07I035034 35034946 35038693 1.99 [{'connected_gene': 'DPY19L1', 'score': 564.12}, {'connected_gene': 'LOC105375228', 'score': 550.77}, {'connected_gene': 'GC07M034966', 'score': 0.31}]
chr7 GH07I034997 34997732 34999077 0.67 [{'connected_gene': 'DPY19L1', 'score': 17.16}, {'connected_gene': 'LOC101930085', 'score': 5.4}, {'connected_gene': 'LOC105375228', 'score': 0.28}, {'connected_gene': 'MIR548N', 'score': 0.22}, {'connected_gene': 'GC07M034966', 'score': 0.21}]
chr7 GH07I035280 35280510 35281474 0.51 [{'connected_gene': 'DPY19L1', 'score': 7.96}, {'connected_gene': 'GC07M035200', 'score': 0.37}, {'connected_gene': 'ENSG00000226063', 'score': 0.34}]
chr7 GH07I035291 35291564 35292509 0.43 [{'connected_gene': 'DPY19L1', 'score': 5.47}, {'connected_gene': 'GC07M035200', 'score': 0.44}, {'connected_gene': 'ENSG00000226063', 'score': 0.29}]
chr7 GH07I034996 34996401 34997156 0.88 [{'connected_gene': 'LOC105375228', 'score': 0.28}, {'connected_gene': 'DPY19L1', 'score': 0.26}, {'connected_gene': 'MIR548N', 'score': 0.22}, {'connected_gene': 'GC07M034966', 'score': 0.2}]
chr7 GH07I034939 34939209 34939358 0.86 [{'connected_gene': 'MIR548N', 'score': 550.77}, {'connected_gene': 'LOC102724723', 'score': 550.77}, {'connected_gene': 'GC07M034905', 'score': 0.77}, {'connected_gene': 'DPY19L1', 'score': 0.15}]
chr7 GH07I035257 35257193 35259831 0.43 [{'connected_gene': 'ENSG00000226063', 'score': 550.77}, {'connected_gene': 'TBX20', 'score': 6.45}, {'connected_gene': 'DPY19L1', 'score': 5.48}, {'connected_gene': 'GC07M035200', 'score': 0.26}]
chr7 GH07I034936 34936000 34936200 0.43 [{'connected_gene': 'GC07M034905', 'score': 550.77}, {'connected_gene': 'LOC102724723', 'score': 0.77}, {'connected_gene': 'DPY19L1', 'score': 0.15}]