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
ENST00000273183 [[36421835, 36422246], [36484855, 36485132], [36524483, 36524584], [36526468, 36526550], [36527625, 36527741], [36534642, 36534721], [36545884, 36545949], [36547237, 36547326], [36570187, 36570239], [36570339, 36570477], [36587682, 36589499]] [[36422135, 36422246], [36484855, 36485132], [36524483, 36524584], [36526468, 36526550], [36527625, 36527741], [36534642, 36534721], [36545884, 36545949], [36547237, 36547326], [36570187, 36570239], [36570339, 36570477], [36587682, 36587781]]
ENST00000457375 [[36421994, 36422246], [36484855, 36485132], [36527625, 36527741], [36534642, 36534721], [36545884, 36545949], [36547237, 36547326], [36570187, 36570239], [36570339, 36570477], [36587682, 36587980]] [[36422135, 36422246], [36484855, 36485132], [36527625, 36527741], [36534642, 36534721], [36545884, 36545949], [36547237, 36547326], [36570187, 36570239], [36570339, 36570477], [36587682, 36587781]]
ENST00000427486 [[36422019, 36422246], [36524483, 36524584], [36526468, 36526550], [36527625, 36527741], [36534642, 36534721]] [[36422135, 36422246], [36524483, 36524528]]
ENST00000434649 [[36422064, 36422246], [36484888, 36485132], [36527625, 36527741], [36534642, 36534721], [36545884, 36545949], [36547237, 36547326], [36570187, 36570239]] [[36422135, 36422246], [36484888, 36485132], [36527625, 36527741], [36534642, 36534721], [36545884, 36545949], [36547237, 36547326], [36570187, 36570239]]
ENST00000476388 [[36422160, 36422246], [36450993, 36451213], [36484855, 36485132], [36524483, 36524584], [36526468, 36526550], [36527254, 36527417], [36527625, 36527741], [36534642, 36534721], [36545884, 36545949], [36547237, 36547278]] None
ENST00000486143 [[36422176, 36422246], [36484855, 36485132], [36500704, 36500833]] None
ENST00000473452 [[36527662, 36527741], [36534642, 36534721], [36545884, 36545949], [36547237, 36547729]] None
ENST00000465064 [[36570200, 36570239], [36570339, 36570731]] None
NM_001292049 [[36421978, 36422246], [36484855, 36485132], [36527625, 36527741], [36534642, 36534721], [36545884, 36545949], [36547237, 36547326], [36570187, 36570239], [36570339, 36570477], [36587682, 36589499]] [[36422135, 36422246], [36484855, 36485132], [36527625, 36527741], [36534642, 36534721], [36545884, 36545949], [36547237, 36547326], [36570187, 36570239], [36570339, 36570477], [36587682, 36587781]]
NM_003149 [[36421978, 36422246], [36484855, 36485132], [36524483, 36524584], [36526468, 36526550], [36527625, 36527741], [36534642, 36534721], [36545884, 36545949], [36547237, 36547326], [36570187, 36570239], [36570339, 36570477], [36587682, 36589499]] [[36422135, 36422246], [36484855, 36485132], [36524483, 36524584], [36526468, 36526550], [36527625, 36527741], [36534642, 36534721], [36545884, 36545949], [36547237, 36547326], [36570187, 36570239], [36570339, 36570477], [36587682, 36587781]]
Promoter
Chrom Start End Description
chr3 36421826 36421844 CAGE_peak_2_at_STAC_5end
chr3 36421847 36421855 CAGE_peak_6_at_STAC_5end
chr3 36421856 36421870 CAGE_peak_3_at_STAC_5end
chr3 36421971 36422036 CAGE_peak_1_at_STAC_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I036675 36675318 36676416 0.2 [{'connected_gene': 'DCLK3', 'score': 10.58}, {'connected_gene': 'STAC', 'score': 9.94}, {'connected_gene': 'GC03P036685', 'score': 0.44}, {'connected_gene': 'NBPF21P', 'score': 0.28}]
chr3 GH03I036494 36494215 36495651 0.89 [{'connected_gene': 'STAC', 'score': 10.42}, {'connected_gene': 'EPM2AIP1', 'score': 5.84}, {'connected_gene': 'MLH1', 'score': 1.64}, {'connected_gene': 'NBPF21P', 'score': 0.11}]
chr3 GH03I036444 36444361 36445532 0.31 [{'connected_gene': 'STAC', 'score': 0.21}, {'connected_gene': 'NBPF21P', 'score': 0.08}]
chr3 GH03I036496 36496136 36497819 0.58 [{'connected_gene': 'STAC', 'score': 10.41}, {'connected_gene': 'NBPF21P', 'score': 0.11}]
chr3 GH03I036380 36380000 36381698 1.76 [{'connected_gene': 'STAC', 'score': 556.92}, {'connected_gene': 'NBPF21P', 'score': 0.07}]
chr3 GH03I036361 36361604 36363641 0.96 [{'connected_gene': 'STAC', 'score': 0.37}, {'connected_gene': 'RFC3P1', 'score': 0.08}]
chr3 GH03I036319 36319282 36320492 0.43 [{'connected_gene': 'STAC', 'score': 10.38}, {'connected_gene': 'RFC3P1', 'score': 0.11}]
chr3 GH03I036296 36296664 36297837 0.2 [{'connected_gene': 'STAC', 'score': 10.65}, {'connected_gene': 'RFC3P1', 'score': 0.13}]
chr3 GH03I036524 36524796 36526198 0.58 [{'connected_gene': 'NBPF21P', 'score': 0.14}, {'connected_gene': 'STAC', 'score': 0.11}]
chr3 GH03I036635 36635671 36636548 0.2 [{'connected_gene': 'NBPF21P', 'score': 550.77}, {'connected_gene': 'STAC', 'score': 0.07}]
chr3 GH03I036480 36480753 36481586 0.2 [{'connected_gene': 'RPL29P11', 'score': 4.39}, {'connected_gene': 'STAC', 'score': 0.15}, {'connected_gene': 'NBPF21P', 'score': 0.1}]
chr3 GH03I036372 36372017 36373610 0.38 [{'connected_gene': 'RPL29P11', 'score': 5.85}, {'connected_gene': 'STAC', 'score': 0.44}, {'connected_gene': 'RFC3P1', 'score': 0.08}]
chr3 GH03I036258 36258088 36258778 0.2 [{'connected_gene': 'RFC3P1', 'score': 0.17}, {'connected_gene': 'STAC', 'score': 0.13}]