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Case study of a patient with a balanced translocation 46,XX,t(6;14)(p25.1;q12).
pLI score (gnomAD)
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Basic options
Track file
crawlergo@gmail.com
ENCODE Candidate Cis-Regulatory Elements (cCREs) combined from all cell types
Genes from BIOMART
Haploinsufficiency Predictions (Deletions)
Hi-C gm12878 (MboI) TADs
Hi-C immortalized Blood Cells (HindIII) TADs
Hi-C immortalized Fibroblasts (DpnII) TADs
Hi-C Immortalized Liver cells (DpnII) TADs
Hi-C induced pluripotent stem cells (DpnII) TADs
Hi-C Neural progenitor cells (MboI) TADs
Hi-C primary Lung cells (MboI) TADs
Hi-C stem cell derived Cardiac muscle cells (MboI) TADs
Hi-C stem cell derived myoblasts (MboI) TADs
NCBI RefSeq Functional Elements
NCBI RefSeq Genes All
pLI score (gnomAD)
Predicted enhancer-promoter connections (ENCODE)
Triplosensitivity scores (Duplications)
DNase I Hypersensitivity Signal
H3K27Ac 7 cell lines
H3K4Me1 7 cell lines
H3K4Me3 7 cell lines
PhastCons conservation
PhyloP conservation
Transcription Levels RNA-seq
Hi-C gm12878 (MboI)
Hi-C immortalized Blood Cells (HindIII)
Hi-C immortalized Fibroblasts (DpnII)
Hi-C Immortalized Liver cells (DpnII)
Hi-C induced pluripotent stem cells (DpnII)
Hi-C Neural progenitor cells (MboI)
Hi-C primary Lung cells (MboI)
Hi-C stem cell derived Cardiac muscle cells (MboI)
Hi-C stem cell derived myoblasts (MboI)
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HIC
Virtual 4C
Chromosome
chr1
chr2
chr3
chr4
chr5
chr6
chr7
chr8
chr9
chr11
chr10
chr12
chr13
chr14
chr15
chr16
chr17
chr18
chr19
chr20
chr21
chr22
chrX
chrY
Start coordinate
End coordinate
Aggregate function
mean
sum
min
max
Transform
none
log1p
Domains datasource
None
ENCODE Candidate Cis-Regulatory Elements (cCREs) combined from all cell types
Genes from BIOMART
Haploinsufficiency Predictions (Deletions)
Hi-C Immortalized Liver cells (DpnII) TADs
Hi-C Neural progenitor cells (MboI) TADs
Hi-C gm12878 (MboI) TADs
Hi-C immortalized Blood Cells (HindIII) TADs
Hi-C immortalized Fibroblasts (DpnII) TADs
Hi-C induced pluripotent stem cells (DpnII) TADs
Hi-C primary Lung cells (MboI) TADs
Hi-C stem cell derived Cardiac muscle cells (MboI) TADs
Hi-C stem cell derived myoblasts (MboI) TADs
NCBI RefSeq Functional Elements
NCBI RefSeq Genes All
Predicted enhancer-promoter connections (ENCODE)
Triplosensitivity scores (Duplications)
crawlergo@gmail.com
pLI score (gnomAD)
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magma_r
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plasma_r
viridis_r
cividis_r
twilight_r
twilight_shifted_r
turbo_r
Blues_r
BrBG_r
BuGn_r
BuPu_r
CMRmap_r
GnBu_r
Greens_r
Greys_r
OrRd_r
Oranges_r
PRGn_r
PiYG_r
PuBu_r
PuBuGn_r
PuOr_r
PuRd_r
Purples_r
RdBu_r
RdGy_r
RdPu_r
RdYlBu_r
RdYlGn_r
Reds_r
Spectral_r
Wistia_r
YlGn_r
YlGnBu_r
YlOrBr_r
YlOrRd_r
afmhot_r
autumn_r
binary_r
bone_r
brg_r
bwr_r
cool_r
coolwarm_r
copper_r
cubehelix_r
flag_r
gist_earth_r
gist_gray_r
gist_heat_r
gist_ncar_r
gist_rainbow_r
gist_stern_r
gist_yarg_r
gnuplot_r
gnuplot2_r
gray_r
hot_r
hsv_r
jet_r
nipy_spectral_r
ocean_r
pink_r
prism_r
rainbow_r
seismic_r
spring_r
summer_r
terrain_r
winter_r
Accent_r
Dark2_r
Paired_r
Pastel1_r
Pastel2_r
Set1_r
Set2_r
Set3_r
tab10_r
tab20_r
tab20b_r
tab20c_r
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