Traits: Chung-Jansen+syndrome;
Trait | Type | #Publications | #Studies | #Associations | Correlations | CpG Island |
|---|---|---|---|---|---|---|
| Chung-Jansen syndrome | non-cancer disease | 1 | 2 | 454 | Hyper: 4%; Hypo: 96%; NR: 0% | cpg: 4%; shore: 69%; shelf: 9%; other: 18% |
Probe ID | Studies | Correlations | Location | Related genes (transcript: location) | CpG islands | Related traits |
|---|---|---|---|---|---|---|
| cg00770784 | 2 | Hyper: 0%;Hypo: 100%;NR: 0% | chr16: 75468297 | CFDP1 (ENST00000283882: promoter); CFDP1 (ENST00000566901: promoter); CFDP1 (ENST00000565646: promoter); CFDP1 (ENST00000564286: promoter); CFDP1 (ENST00000566254: promoter); RP11-77K12.1 (ENST00000567194: body); RP11-77K12.1 (ENST00000561887: body); RP11-77K12.1 (ENST00000566594: body); RP11-77K12.9 (ENST00000621929: promoter); | Shore | |
| cg09396851 | 2 | Hyper: 0%;Hypo: 100%;NR: 0% | chr6: 35458205 | TEAD3 (ENST00000402886: body); TEAD3 (ENST00000338863: body); | Shelf | |
| cg24213184 | 2 | Hyper: 0%;Hypo: 100%;NR: 0% | chr9: 72288470 | APBA1 (ENST00000265381: promoter); RP11-109D9.4 (ENST00000567129: promoter); | Shore | |
| cg22956649 | 2 | Hyper: 0%;Hypo: 100%;NR: 0% | chr2: 177046513 | HAGLR (ENST00000452365: body); HAGLR (ENST00000642267: body); HAGLR (ENST00000643050: body); HAGLR (ENST00000644334: body); HAGLR (ENST00000645228: body); HAGLR (ENST00000417086: body); HAGLR (ENST00000436126: body); HAGLR (ENST00000425005: body); | Shelf | |
| cg24930416 | 2 | Hyper: 0%;Hypo: 100%;NR: 0% | chr2: 201390305 | SGO2 (ENST00000418045: body); SGO2 (ENST00000409203: promoter); SGO2 (ENST00000357799: promoter); | Shore | |
| cg07519229 | 2 | Hyper: 0%;Hypo: 100%;NR: 0% | chr22: 41486835 | EP300 (ENST00000263253: promoter); | Shore | |
| cg14267555 | 2 | Hyper: 0%;Hypo: 100%;NR: 0% | chr1: 57045746 | PLPP3 (ENST00000371250: promoter); PLPP3 (ENST00000461655: body); PLPP3 (ENST00000476206: body); | Shore | |
| cg14688272 | 2 | Hyper: 0%;Hypo: 100%;NR: 0% | chr17: 80673958 | RP11-388C12.1 (ENST00000574471: promoter); FN3KRP (ENST00000269373: promoter); FN3KRP (ENST00000574832: promoter); FN3KRP (ENST00000574356: promoter); FN3KRP (ENST00000574206: promoter); FN3KRP (ENST00000577128: promoter); FN3KRP (ENST00000573158: promoter); | Shelf | |
| cg05394244 | 2 | Hyper: 0%;Hypo: 100%;NR: 0% | chr6: 64281439 | PTP4A1 (ENST00000470661: body); PTP4A1 (ENST00000370651: promoter); PTP4A1 (ENST00000578299: promoter); RP5-1148A21.3 (ENST00000584934: promoter); | Shore | |
| cg12305845 | 2 | Hyper: 0%;Hypo: 100%;NR: 0% | chr8: 36957694 | Other |
Gene ID | Location | Expression | #Association | Promoter/Body | Correlations | #Related Traits | Most Related traits (#Associations) |
|---|---|---|---|---|---|---|---|
| HOXC4; ENSG00000198353 | (+) chr12:54410715-54449814 | 7 | body: 100%; promoter: 0% | Hyper: 0%; Hypo: 100%; NR: 0% | 67 | ||
| PLPP3; ENSG00000162407 | (-) chr1:56960419-57110974 | 5 | body: 100%; promoter: 0% | Hyper: 0%; Hypo: 100%; NR: 0% | 44 | ||
| RP11-834C11.14; ENSG00000273046 | (+) chr12:54410894-54429145 | 5 | body: 100%; promoter: 0% | Hyper: 0%; Hypo: 100%; NR: 0% | 45 | ||
| RP11-834C11.12; ENSG00000273049 | (+) chr12:54379629-54428672 | 5 | body: 100%; promoter: 0% | Hyper: 0%; Hypo: 100%; NR: 0% | 82 | ||
| HOXC6; ENSG00000197757 | (+) chr12:54384408-54424607 | 5 | body: 100%; promoter: 0% | Hyper: 0%; Hypo: 100%; NR: 0% | 72 | ||
| SGO2; ENSG00000163535 | (+) chr2:201374731-201448505 | 4 | body: 100%; promoter: 0% | Hyper: 0%; Hypo: 100%; NR: 0% | 17 | ||
| HOXB7; ENSG00000260027 | (-) chr17:46684589-46710934 | 4 | body: 50%; promoter: 50% | Hyper: 0%; Hypo: 100%; NR: 0% | 56 | ||
| CELF1; ENSG00000149187 | (-) chr11:47487485-47587121 | 4 | body: 100%; promoter: 0% | Hyper: 25%; Hypo: 75%; NR: 0% | 32 | ||
| RP11-357H14.4; ENSG00000242207 | (+) chr17:46706037-46712294 | 4 | body: 50%; promoter: 50% | Hyper: 0%; Hypo: 100%; NR: 0% | 22 | ||
| STRADB; ENSG00000082146 | (+) chr2:202252581-202345569 | 3 | body: 100%; promoter: 0% | Hyper: 0%; Hypo: 100%; NR: 0% | 24 |
Study ID | Trait | Ontology | #Associations | #Cohorts | Source | Case | Control |
|---|---|---|---|---|---|---|---|
| ES02123 | Chung-Jansen syndrome | 243 | 1 | whole blood | Chung-Jansen syndrome | ||
| ES02124 | Chung-Jansen syndrome | 211 | 1 | whole blood | Chung-Jansen syndrome |
PMID | Title | Year | Journal | Citation | Datasets |
|---|---|---|---|---|---|
| 38787418 | The detection of a strong episignature for Chung-Jansen syndrome, partially overlapping with Börjeson-Forssman-Lehmann and White-Kernohan syndromes. | 2024 | Hum Genet | - |