Skip to main content
. 2017 Sep 19;34(12):3154–3168. doi: 10.1093/molbev/msx239

Table 1.

Genes in the Top 11 Candidate Regions.

Region Chr Carrier Haplotype Frequency
P Valuea Coordinates
Gene Symbol Gene Name Location
CMS NonCMS Start End
1 8 0.12 0.28 5.74E-03 67, 620, 607 68, 221, 368 PTTG3P Pituitary tumor-transforming 3, pseudogene 8q13.1
C8orf44 Chromosome 8 open reading frame 44 8q13.1
SGK3 Serum/glucocorticoid regulated kinase family member 3 8q13.1
C8orf44-SGK3 C8orf44-SGK3 readthrough 8q13.1
VCPIP1 Valosin containing protein interacting protein 1 8q13.1
PPP1R42 Protein phosphatase 1 regulatory subunit 42 8q13.1
CSPP1 Centrosome and spindle pole associated protein 1 8q13.1-q13.2
COPS5 COP9 signalosome subunit 5 8q13.1
TCF24 Transcription factor 24 8q13.1
SNHG6 small nucleolar RNA host gene 6 8q13.1
MCMDC2 Minichromosome maintenance domain containing 2 8q13.1
SNORD87 Small nucleolar RNA, C/D box 87 8q13.1
2 10 0.61 0.78 1.15E-02 47, 618, 434 47, 688, 356 ANTXRL Anthrax toxin receptor-like 10q11.22
ANTXRLP1 Anthrax toxin receptor-like pseudogene 1 10q11.22
3 6 0.2 0.36 1.45E-02 106, 358, 412 106, 503, 931 PRDM1 PR/SET domain 1 6q21
4 6 0.89 0.98 2.13E-02 56, 066, 358 56, 150, 981 COL21A1 Collagen type XXI alpha 1 chain 6p12.1
5 3 0.75 0.89 2.34E-02 129, 094, 497 129, 331, 906 MBD4 Methyl-CpG binding domain 4, DNA glycosylase 3q21.3
IFT122 Intraflagellar transport 122 3q21.3-q22.1
EFCAB12 EF-hand calcium binding domain 12 3q21.3
RPL32P3 Ribosomal protein L32 pseudogene 3 3q21.3
SNORA7B Small nucleolar RNA, H/ACA box 7B 3q21.3
6 19 0.61 0.76 2.90E-02 22, 811, 834 23, 078, 159 ZNF492 Zinc finger protein 492 19p13.11
ZNF99 Zinc finger protein 99 19p12
ZNF723P Zinc finger protein 723, pseudogene 19p12
7 12 0.73 0.86 3.03E-02 48, 777, 513 48, 886, 484 OR8S1 Olfactory receptor family 8 subfamily S member 1 12q13.2
C12orf54 Chromosome 12 open reading frame 54 12q13.11
ANP32D Acidic nuclear phosphoprotein 32 family member D 12q13.11
ZNF641 Zinc finger protein 641 12q13.11
8 12 0.81 0.92 3.44E-02 48, 431, 197 48, 529, 882 MIR6505 MicroRNA 6505 12q13.11
ASB8 Ankyrin repeat and SOCS box containing 8 12q13.11
SENP1 SUMO1/sentrin specific peptidase 1 12q13.11
PFKM Phosphofructokinase, muscle 12q13.11
COL2A1 Collagen type II alpha 1 chain 12q13.11
CCDC184 Coiled-coil domain containing 184 12q13.11
9 10 0.8 0.91 4.12E-02 79, 707, 274 79, 893, 495 RPS24 Ribosomal protein S24 10q22.3
POLR3A RNA polymerase III subunit A 10q22.3
10 9 0.69 0.82 4.51E-02 17, 053, 836 17, 477, 199 CNTLN Centlein 9p22.2
11 18 0.15 0.43 2.08E-05 13, 885, 293 13, 918, 846 MC2R Melanocortin 2 receptor 18p11.2
a

Two-Tailed Fisher Exact; the start and end position are from genome assembly version GRCh37/hg19.