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. 2018 Jun 14;27(18):3246–3256. doi: 10.1093/hmg/ddy222

Table 2.

Integration of TCF4 binding profile with functional and SCZ data sets

Gene-based enrichment via permutation analysis
TCF4 knockdown experiments Set size Overlap Odds ratio Fisher P value Permutation P value
SH-SY5Y siRNA knockdown (all) 921 267 1.30 0.0003 0.0005
Upregulated 396 100 1.06 0.3159 n/a
Downregulated 525 167 1.48 3.28E-05 0.0001
Cortical precursor siRNA knockdown (all) 502 138 1.20 0.0434 0.0438
Upregulated 240 47 0.76 0.9603 n/a
Downregulated 262 91 1.68 6.78E-05 <4.11E-05a
SCZ gene expression
Fromer et. al (2016) (all) 623 190 1.38 0.0002 0.0001
Upregulated 296 37 0.45 1 n/a
Downregulated 326 153 2.77 2.20E-16 <4.11E-05a
Genomic locus enrichment tests using LOLA
UCSC annotations Bed file Overlap Odds ratio P value
Evo CpG islands evoCpg.bed 3706 7.08 ∼0
CpG islands cpgIslandExt.bed 960 2.76 2.30E-151
Switch DB TSSs switchDbTss.bed 584 3.19 2.46E-118
LaminBq laminB1.bed 4404 1.49 1.46E-94
Simple repeats simpleRepeat.bed 836 1.99 3.46E-68
Top 15 overlapping DNA binding protein profiles from ENCODE
Experiment Antibody Overlap Odds ratio P value
ChIP SK-N-SH NRSF 587 5.75 2.90E-231
ChIP GM12878 Pol2 637 2.26 5.54E-71
ChIP MCF-7 CTCF 561 2.26 3.53E-63
ChIP H1-hESC CTCF 437 2.40 3.38E-56
ChIP K562 Max 580 2.09 3.11E-54
ChIP HEK293 ZNF263 508 2.18 4.30E-53
ChIP HepG2 Pol2 425 2.36 8.00E-53
ChIP PFSK-1 FOXP2 305 2.73 2.83E-50
ChIP K562 ZBTB7A 357 2.48 2.88E-49
ChIP GM12891 CTCF 422 2.26 5.42E-48
ChIP A549 CTCF 505 2.02 3.23E-44
ChIP SK-N-SH p300 494 2.03 6.72E-44
ChIP K562 Egr-1 403 2.18 7.15E-43
ChIP K562 MAZ 450 2.04 8.06E-41
ChIP SH-SY5Y GATA-2 413 2.09 9.19E-40
Psychiatric Genomics Consortium risk loci overlap
Data file Background Overlap Odds ratio Fisher P value Permutation P value
scz2.anneal.108 ActiveDHSb 158 1.38 8.88E-05 0.0816
SK-N-SH DHSb 55 1.56 0.0017 0.035
a

4.11E-05 is the minimum P value obtainable when permuting over 24, 358 genes (includes non-coding RNAs and provisional IDs).

b

DNaseI Hypersensitivity Sites.