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
ENST00000527420 [[96796529, 96797066], [96798653, 96798795], [96800678, 96800717], [96802646, 96802834], [96805566, 96805708], [96818091, 96818268], [96824556, 96824717], [96826964, 96827114], [96827285, 96827448], [96828991, 96829160]] [[96800684, 96800717], [96802646, 96802834], [96805566, 96805708], [96818091, 96818268], [96824556, 96824717], [96826964, 96827114], [96827285, 96827448]]
ENST00000490994 [[96796529, 96797066], [96798653, 96798795], [96802646, 96802834], [96805566, 96805708], [96818091, 96818268], [96824556, 96824717], [96826964, 96827114], [96827285, 96827448], [96828953, 96829254]] [[96827402, 96827448], [96828953, 96829159]]
ENST00000371270 [[96796529, 96797066], [96798653, 96798795], [96802646, 96802834], [96805566, 96805708], [96818091, 96818268], [96824556, 96824717], [96826964, 96827114], [96827285, 96827448], [96828991, 96829254]] [[96796884, 96797066], [96798653, 96798795], [96802646, 96802834], [96805566, 96805708], [96818091, 96818268], [96824556, 96824717], [96826964, 96827114], [96827285, 96827448], [96828991, 96829159]]
ENST00000527953 [[96796534, 96797066], [96798653, 96798795], [96800678, 96800717], [96802646, 96802834], [96805566, 96805708], [96818091, 96818268], [96824556, 96824717], [96826964, 96827448], [96828991, 96829243]] None
ENST00000526814 [[96796534, 96797066], [96798653, 96798795], [96802646, 96802834], [96805566, 96805708], [96818091, 96818268], [96824556, 96824717], [96826964, 96827448], [96828991, 96829243]] None
ENST00000533320 [[96796558, 96797066], [96798653, 96798795], [96802646, 96802834], [96805566, 96805708], [96818091, 96818268], [96824556, 96824717], [96826964, 96827448], [96828953, 96829184]] None
ENST00000535898 [[96796740, 96797066], [96798653, 96798795], [96802646, 96802834], [96805566, 96805708], [96818091, 96818268], [96824556, 96824717], [96826964, 96827114], [96828953, 96829254]] [[96796884, 96797066], [96798653, 96798795], [96802646, 96802834], [96805566, 96805708], [96818091, 96818268], [96824556, 96824717], [96826964, 96827114], [96828953, 96828978]]
ENST00000525991 [[96796740, 96797066], [96798653, 96798795], [96802646, 96802834], [96805566, 96805708], [96818091, 96818268], [96824556, 96824717], [96826964, 96827114], [96828953, 96829254]] [[96827020, 96827114], [96828953, 96829159]]
ENST00000531714 [[96796938, 96797066], [96798653, 96799132]] None
ENST00000479946 [[96798715, 96798795], [96800678, 96800717], [96802646, 96802834], [96805566, 96805708], [96818091, 96818268], [96824556, 96824717], [96826964, 96827448], [96828953, 96829254]] None
ENST00000539050 [[96800677, 96800717], [96802646, 96802834], [96805566, 96805708], [96818091, 96818268], [96824556, 96824717], [96826964, 96827448], [96828953, 96829254]] [[96800684, 96800717], [96802646, 96802834], [96805566, 96805708], [96818091, 96818268], [96824556, 96824717], [96826964, 96827187]]
NM_001198855 [[96796528, 96797066], [96798653, 96798795], [96802646, 96802834], [96805566, 96805708], [96818091, 96818268], [96824556, 96824717], [96826964, 96827114], [96827285, 96827448], [96828323, 96828385], [96828953, 96829254]] [[96796884, 96797066], [96798653, 96798795], [96802646, 96802834], [96805566, 96805708], [96818091, 96818268], [96824556, 96824717], [96826964, 96827114], [96827285, 96827406]]
NM_001198853 [[96796528, 96797066], [96798653, 96798795], [96802646, 96802834], [96805566, 96805708], [96818091, 96818268], [96824556, 96824717], [96826964, 96827114], [96827285, 96827448], [96828953, 96829254]] [[96796884, 96797066], [96798653, 96798795], [96802646, 96802834], [96805566, 96805708], [96818091, 96818268], [96824556, 96824717], [96826964, 96827114], [96827285, 96827406]]
NM_001198854 [[96796528, 96797066], [96798653, 96798795], [96802646, 96802834], [96805566, 96805708], [96818091, 96818268], [96824556, 96824717], [96826964, 96827114], [96828953, 96829254]] [[96796884, 96797066], [96798653, 96798795], [96802646, 96802834], [96805566, 96805708], [96818091, 96818268], [96824556, 96824717], [96826964, 96827114], [96828953, 96828978]]
NM_000770 [[96796528, 96797066], [96798653, 96798795], [96802646, 96802834], [96805566, 96805708], [96818091, 96818268], [96824556, 96824717], [96826964, 96827114], [96827285, 96827448], [96828991, 96829254]] [[96796884, 96797066], [96798653, 96798795], [96802646, 96802834], [96805566, 96805708], [96818091, 96818268], [96824556, 96824717], [96826964, 96827114], [96827285, 96827448], [96828991, 96829159]]
Promoter
Chrom Start End Description
chr10 96829178 96829189 CAGE_peak_2_at_CYP2C8_5end
chr10 96829246 96829259 CAGE_peak_1_at_CYP2C8_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I095286 95286324 95298104 2.75 [{'connected_gene': 'PDLIM1', 'score': 561.82}, {'connected_gene': 'TBC1D12', 'score': 4.53}, {'connected_gene': 'CYP2C8', 'score': 4.11}, {'connected_gene': 'ENTPD1', 'score': 3.56}, {'connected_gene': 'SORBS1', 'score': 1.4}, {'connected_gene': 'GC10M095392', 'score': 0.15}]
chr10 GH10I095271 95271476 95282774 1.39 [{'connected_gene': 'PDLIM1', 'score': 8.83}, {'connected_gene': 'CYP2C8', 'score': 6.54}, {'connected_gene': 'TBC1D12', 'score': 5.33}, {'connected_gene': 'ACSM6', 'score': 5.3}, {'connected_gene': 'CYP2C18', 'score': 4.61}, {'connected_gene': 'TCTN3', 'score': 4.0}, {'connected_gene': 'GC10M095264', 'score': 0.44}, {'connected_gene': 'GC10M095235', 'score': 0.26}]
chr10 GH10I095259 95259414 95269654 1.71 [{'connected_gene': 'PDLIM1', 'score': 16.95}, {'connected_gene': 'CYP2C8', 'score': 11.42}, {'connected_gene': 'ACSM6', 'score': 10.21}, {'connected_gene': 'GC10M095264', 'score': 0.37}, {'connected_gene': 'GC10M095235', 'score': 0.31}]
chr10 GH10I095178 95178904 95179053 0.71 [{'connected_gene': 'PDLIM1', 'score': 9.96}, {'connected_gene': 'CYP2C8', 'score': 5.24}, {'connected_gene': 'PAWRP1', 'score': 0.77}, {'connected_gene': 'ENSG00000274691', 'score': 0.44}]
chr10 GH10I095250 95250667 95251439 0.2 [{'connected_gene': 'CYP2C8', 'score': 6.7}, {'connected_gene': 'GC10M095235', 'score': 0.39}, {'connected_gene': 'GC10M095264', 'score': 0.29}, {'connected_gene': 'PDLIM1', 'score': 0.26}]
chr10 GH10I095252 95252862 95254940 0.72 [{'connected_gene': 'CYP2C8', 'score': 7.51}, {'connected_gene': 'GC10M095235', 'score': 0.37}, {'connected_gene': 'GC10M095264', 'score': 0.31}, {'connected_gene': 'PDLIM1', 'score': 0.28}]
chr10 GH10I095249 95249596 95250070 0.31 [{'connected_gene': 'CYP2C8', 'score': 11.95}, {'connected_gene': 'GC10M095235', 'score': 0.39}, {'connected_gene': 'GC10M095264', 'score': 0.29}, {'connected_gene': 'PDLIM1', 'score': 0.26}]
chr10 GH10I095244 95244910 95249360 1.21 [{'connected_gene': 'CYP2C8', 'score': 7.63}, {'connected_gene': 'TCTN3', 'score': 4.33}, {'connected_gene': 'GC10M095235', 'score': 0.39}, {'connected_gene': 'GC10M095264', 'score': 0.28}, {'connected_gene': 'PDLIM1', 'score': 0.26}]
chr10 GH10I095208 95208644 95209588 0.66 [{'connected_gene': 'CYP2C8', 'score': 6.11}, {'connected_gene': 'ACSM6', 'score': 0.39}, {'connected_gene': 'ENSG00000234026', 'score': 0.34}]
chr10 GH10I095214 95214197 95215971 0.77 [{'connected_gene': 'CYP2C8', 'score': 7.63}, {'connected_gene': 'ENSG00000234026', 'score': 0.37}, {'connected_gene': 'ACSM6', 'score': 0.34}]
chr10 GH10I095069 95069487 95069546 0.94 [{'connected_gene': 'CYP2C8', 'score': 550.77}, {'connected_gene': 'ENSG00000231829', 'score': 0.15}]
chr10 GH10I095226 95226568 95227117 0.2 [{'connected_gene': 'ACSM6', 'score': 12.36}, {'connected_gene': 'PDLIM1', 'score': 10.81}, {'connected_gene': 'CYP2C8', 'score': 10.74}, {'connected_gene': 'ENSG00000234026', 'score': 0.77}]
chr10 GH10I095220 95220724 95222724 0.96 [{'connected_gene': 'ACSM6', 'score': 12.56}, {'connected_gene': 'PDLIM1', 'score': 10.81}, {'connected_gene': 'CYP2C8', 'score': 6.99}, {'connected_gene': 'ENSG00000234026', 'score': 0.44}]
chr10 GH10I095217 95217321 95218849 0.2 [{'connected_gene': 'ACSM6', 'score': 21.13}, {'connected_gene': 'PDLIM1', 'score': 10.44}, {'connected_gene': 'CYP2C8', 'score': 7.7}, {'connected_gene': 'ENSG00000234026', 'score': 0.39}]
chr10 GH10I095242 95242723 95243663 0.79 [{'connected_gene': 'ACSM6', 'score': 11.89}, {'connected_gene': 'PDLIM1', 'score': 11.18}, {'connected_gene': 'PLCE1-AS1', 'score': 4.27}, {'connected_gene': 'CYP2C8', 'score': 4.23}, {'connected_gene': 'TCTN3', 'score': 4.18}, {'connected_gene': 'GC10M095235', 'score': 0.44}, {'connected_gene': 'GC10M095264', 'score': 0.28}]
chr10 GH10I095241 95241125 95242322 0.2 [{'connected_gene': 'ACSM6', 'score': 20.9}, {'connected_gene': 'CYP2C8', 'score': 12.13}, {'connected_gene': 'PDLIM1', 'score': 11.18}, {'connected_gene': 'TCTN3', 'score': 4.58}, {'connected_gene': 'GC10M095235', 'score': 0.77}, {'connected_gene': 'GC10M095264', 'score': 0.26}]
chr10 GH10I095196 95195421 95196457 0.31 [{'connected_gene': 'ACSM6', 'score': 550.77}, {'connected_gene': 'CYP2C8', 'score': 8.13}, {'connected_gene': 'ENSG00000234026', 'score': 0.28}]
chr10 GH10I095331 95330124 95330487 0.76 [{'connected_gene': 'SORBS1', 'score': 7.81}, {'connected_gene': 'CYP2C8', 'score': 1.87}, {'connected_gene': 'CYP2C9', 'score': 1.61}, {'connected_gene': 'PDLIM1', 'score': 0.28}, {'connected_gene': 'GC10M095392', 'score': 0.21}]
chr10 GH10I095181 95181844 95181993 0.46 [{'connected_gene': 'PAWRP1', 'score': 550.77}, {'connected_gene': 'ZNF518A', 'score': 11.38}, {'connected_gene': 'HELLS', 'score': 10.7}, {'connected_gene': 'PDLIM1', 'score': 9.97}, {'connected_gene': 'ENTPD1-AS1', 'score': 9.8}, {'connected_gene': 'CYP2C8', 'score': 5.15}, {'connected_gene': 'ENSG00000274691', 'score': 0.44}]
chr10 GH10I095182 95182816 95184401 1.75 [{'connected_gene': 'PAWRP1', 'score': 550.77}, {'connected_gene': 'ZNF518A', 'score': 24.17}, {'connected_gene': 'TCTN3', 'score': 17.19}, {'connected_gene': 'CCNJ', 'score': 13.66}, {'connected_gene': 'PDLIM1', 'score': 10.58}, {'connected_gene': 'HELLS', 'score': 10.03}, {'connected_gene': 'ENTPD1-AS1', 'score': 9.7}, {'connected_gene': 'CYP2C8', 'score': 8.18}, {'connected_gene': 'ACSM6', 'score': 5.27}, {'connected_gene': 'SORBS1', 'score': 2.28}, {'connected_gene': 'ENSG00000274691', 'score': 0.39}]
chr10 GH10I095133 95133004 95133233 0.91 [{'connected_gene': 'ENSG00000231829', 'score': 0.28}, {'connected_gene': 'CYP2C8', 'score': 0.21}]
chr10 GH10I095227 95227485 95232932 1.53 [{'connected_gene': 'ENSG00000234026', 'score': 550.77}, {'connected_gene': 'ACSM6', 'score': 12.35}, {'connected_gene': 'PDLIM1', 'score': 10.81}, {'connected_gene': 'CYP2C8', 'score': 10.74}, {'connected_gene': 'TCTN3', 'score': 4.62}]
chr10 GH10I095234 95234888 95237089 1.25 [{'connected_gene': 'GC10M095235', 'score': 550.77}, {'connected_gene': 'ACSM6', 'score': 11.89}, {'connected_gene': 'PDLIM1', 'score': 11.32}, {'connected_gene': 'CYP2C8', 'score': 10.81}, {'connected_gene': 'TCTN3', 'score': 5.33}, {'connected_gene': 'ENSG00000234026', 'score': 0.77}]
chr10 GH10I095237 95237346 95238882 0.43 [{'connected_gene': 'GC10M095235', 'score': 550.77}, {'connected_gene': 'ACSM6', 'score': 21.37}, {'connected_gene': 'CYP2C8', 'score': 12.07}, {'connected_gene': 'PDLIM1', 'score': 11.33}, {'connected_gene': 'GC10M095264', 'score': 0.26}]
chr10 GH10I094314 94314840 94317058 0.83 [{'connected_gene': 'ENSG00000273450', 'score': 550.77}, {'connected_gene': 'PLCE1-AS1', 'score': 14.48}, {'connected_gene': 'CYP2C8', 'score': 4.74}, {'connected_gene': 'NOC3L', 'score': 0.25}, {'connected_gene': 'PIR55864', 'score': 0.25}, {'connected_gene': 'PLCE1', 'score': 0.05}]