Single nucleotide variants in scaffolding genes associated with schizophrenia, autism-spectrum disorders and other clinical phenotypes of interest
| Gene | Single nucleotide variants | Sources | |||
|---|---|---|---|---|---|
| Schizophrenia | Autism-spectrum disorders | Schizophrenia and autism-spectrum disorders | Other associated phenotypes | ||
| DLG1 | g.196863463C>T (49) g.196812562A>T, g.196812614A>T, g.196842947T>C, g.196867096C>A (50) g.196863502G>C* (127) | g.196817764T>C (59) | — | — | Fromer et al. (49) Purcell et al. (50) Iossifov et al. (59) Xing et al. (127) |
| DLG2 | g.83194295C>T (49) g.83180351C>T, g.83180371T>G, g.83243821T>G, g.83497759G>A (50) | — | — | — | Fromer et al. (49) Purcell et al. (50) |
| DLG4 | g.7096826C>T (50) | g.7106562G>Aa (127) | — | — | Purcell et al. (50) Xing et al. (127) |
| DLGAP1 | c.1922A>G (114) | — | — | — | Li et al. (114) |
| DLGAP2 | g.1497520G>A (50) c.−69+9C>T, c.−69+13C>T, c.−69+47C>T, c.−69+55C>T, c.−32A>G, c.341A>G,* c.438C>T, c.990+60T>C, c.1192G>A, c.1920+37A>G, c.1920+94T>A, c.1927G>A, c.2493G>C, c.2634C>T, c.2797G>A,* c.2884G>A,* c.2663G>A (116) | c.44C>T,* c.277C>A,* c.545G>A,* c.574G>T, c.1516T>C,* c.2392G>C,* c.970A>T (115) g.1616734C>T* (127) g.1626547G>C (59) | c.841C>G,*† c.2135C>T,†‡ c.2750C>T*†‡ (115), (116) | — | Purcell et al. (50) Iossifov et al. (59) Chien et al. (115) Li et al. (116) Xing et al. (127) |
| DLGAP3 | c.1141G>A, c.1759G>C, c.2309G>T, c.2578−11C>T (128) | 35365700G>A (59) | — | — | Iossifov et al. (59) Li et al. (128) |
| SHANK1 | g.51205733T>A (50) | g.51220161C>T, g.51206952G>A,* g.51205840C>T,* g.51170826G>A, g.51170775G>A, g.51165632C>T (129) g.51220076C>T, g.51219998C>T, g.51215287C>T,* g.51206988G<T, g.51205886C>T,* g.51191281C>T,* g.51172180G>A, g.51171270C>T,* g.51170856C>T, g.51170854C>T,* g.51170779C>T, g.51170674C>A,* g.51170418G>A, g.51170407G>T, g.51170362A>T,* g.51170359T>C,* g.51170046A>T,* g.51169830C>T,* g.51165932C>T, g.51165929C>T,* g.51165767G>A,* g.51165574C>A* (130) | — | — | Purcell et al. (50) Leblond et al. (129) Sato et al. (130) |
| SHANK2 | g.70666649G>A, g.70666499C>A, g.70544817G>T, g.70349029T>C, g.70333526G>T, g.70333043G>T, g.70333967G>A, g.70331576C>T, g.70331462G>T, g.70319333C>A (131) g.70644595G>A* (132) | c.76C>T, c.622C>T, c.3380C>T, c.4048G>A, c.467A>G, c.492C>T, c.527−18C>A, c.640+11C>T, c.80033C>T, c.942+19G>A, c.924+133G>C, c.1061−81C>T, c.1141+49G>A, c.1148−109C>T, c.1201A>C, c.1264G>A, c.1302+35G>A, c.1303−54C>T, g.70336411G>A,* c.1392G>T, c.1923G>A, c.2052G>A, c.2823C>T, c.3135C>T, c.3843−12C>T, g.70666749G>A,* g.70644566G>A,* g.70331881G>A,* g.70319339C>T (133) g.70666635G>A,* g.70544853C>A,* g.70348949C>A,* g.70348913C>T,* g.70332914C>T,* g.70332890C>T,* g.70332272C>T,* g.70331795C>T,* g.70319359A>G* (134) g.70821018C>G g.70858273A>C (59) | — | c.76C>T, c.467A>G, c.942+19G>A, c.924+133G>C, c.1141+49G>A, c.1148−109C>T (associated with intellectual disability) (133) | Iossifov et al. (59) Peykov et al. (131) Homann et al. (132) Berkel et al. (133) Leblond et al. (134) |
| SHANK3 | g.49484091C>T g.49506476C>T (46), (135) g.51117040G/A, g.51117200G/T, g.51117489C/T, g.51117580C/T, g.51117585G/A, g.51137217A/G, g.51143287C/T, g.51144513C/G, g.51153371G/A, g.51159735C/T, g.51159798A/G, g.51159802C/T, g.51159828G/A, g.51160154G/A, g.51169180A/G (51) | g.51117341C>G, g.51159953G>A, g.51169240A>G (136) g.51159293G>T* (129), (136) c.670G>A (136), (138) g.51121780C>T,* g.51159458G>T,* g.51113103C>T (136), (140) g.51117094C>G,* g.51160615G>T (137) g.51142357C>T, g.51153464G>A,* g.51158686G>T,* g.51158945T>C,* g.51159965C>A,* g.51159988C>T,* g.51160086A>T,* g.51160057G>A (129) c.1527G>A (138) g.51113615T>C* (139) g.51121844A>G,* g.51123071C>T,* g.51159169G>T,* g.51160477C>G, g.51169213G>A,* g.51160589T>C (141) g.51159778G>A,* g.51160049C>T,* § (141), (142) c.1563G>A, c.1967G>A, c.4908C>T (142) g.1159884G>A,* g.51160018A>T, g.51169259C>T* (p.1572A>V), 51169364C>T,* 51169442G>A,* 51169459C>T, 51169463C>T,* 51169480G>A, g.51169207C>T* g.51169499G>A (143) c.612C>A, c.763C>T, c.898C>T, c.920C>G, c.1315C>T, c.1337G>T, c. 3761C>T, c.3764C>T, c.3836C>T, c.4025C>T, c.4405G>C, c.4406G>T, c.4490G>A, c.4720G>A (144) c.5008A>T (145) | g.49506159G>T (129), (135), (136) | g.49506476C>T, c.5008A>T, c.1527G>A (associated with intellectual disability) (46), (138), (145) | Awadalla et al. (46) Girard et al. (51) Leblond et al. (129) Gauthier et al. (135) Durand et al. (136) Boccuto et al. (137) Soorya et al. (138) Gauthier et al. (139) Durand et al. (140) Moessner et al. (141) Waga et al. (142) Schaaf et al. (143) Kelleher et al. (144) Cochoy et al. (145) |
| HOMER1 | IVS4 þ (146) | c.195G>T, c.290C>T, c.425C>T, c.968G>A, c.1090C>T (144) | Kelleher et al. (144) Norton et al. (146) | ||
↵* These variants have functional impact on the protein using the PolyPhen-2 or the Pmunt computer program.
↵† Chien and colleagues also found this variant in controls. (115)
↵‡ Li and colleagues also found this variant in controls. (116)
↵§ Waga and colleagues also found this variant in controls. (142)