|
|
Summary Statistics:
ASD Reports: 4
Recent Reports: 0
Annotated variants: 5
Associated CNVs: 6
Evidence score: 2
Gene Score: 4
Relevance to Autism
Rare mutation in the ST7 gene has been identified with autism (Vincent et al., 2000).
Molecular Function
The encoded protein is a tumor supressor.
References
Primary
Identification of a novel gene on chromosome 7q31 that is interrupted by a translocation breakpoint in an autistic individual.
ASD
Support
Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.
DD, epilepsy
Support
Synaptic, transcriptional and chromatin genes disrupted in autism.
ASD
Highly Cited
Mutational and functional analyses reveal that ST7 is a highly conserved tumor-suppressor gene on human chromosome 7q31.
GEN240R001
translocation
Familial
Maternal
GEN240R002
intron_variant
T134833C
GEN240R003
intron_variant
T153259C
GEN240R004a
stop_gained
c.489T>G
p.Tyr163Ter
Familial
Both parents
Multiplex
GEN240R005
missense_variant
c.148A>C
p.Thr50Pro
De novo
No Common Variants Available
7
Deletion-Duplication
28
7
Deletion-Duplication
10
No Animal Model Data Available
Summary Statistics:
Total Interactions: 25
Total Publications: 4
| Interactor Symbol |
Interactor Name |
Interactor Organism |
Entrez ID |
Uniprot ID |
Interaction Type |
Evidence |
Reference |
| ACTN2 |
actinin, alpha 2 |
|
88
|
P35609
|
|
Y2H
|
Battle MA , et al. 2003
|
| B3GNT1 |
UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1 |
|
11041
|
O43505
|
|
IP; LC-MS/MS
|
Huttlin EL , et al. 2015
|
| C3AR1 |
C3a anaphylatoxin chemotactic receptor |
|
719
|
Q16581
|
|
IP; LC-MS/MS
|
Huttlin EL , et al. 2015
|
| CD244 |
Natural killer cell receptor 2B4 |
|
51744
|
Q9BZW8-2
|
|
IP; LC-MS/MS
|
Huttlin EL , et al. 2015
|
| CDH5 |
Cadherin-5 |
|
1003
|
P33151
|
|
IP; LC-MS/MS
|
Huttlin EL , et al. 2015
|
| CHRNA9 |
cholinergic receptor, nicotinic, alpha 9 (neuronal) |
|
55584
|
Q9UGM1
|
|
IP; LC-MS/MS
|
Huttlin EL , et al. 2015
|
| CHRND |
LRPPRC |
|
1144
|
Q07001
|
|
IP; LC-MS/MS
|
Huttlin EL , et al. 2015
|
| FAM189B |
family with sequence similarity 189, member B |
|
10712
|
B1AVS5
|
|
IP; LC-MS/MS
|
Huttlin EL , et al. 2015
|
| FMR1 |
fragile X mental retardation 1 |
|
2332
|
G8JLE9
|
|
PAR-CLIP
|
Ascano M Jr , et al. 2012
|
| GNB2L1 |
guanine nucleotide binding protein (G protein), beta polypeptide 2-like 1 |
|
10399
|
P63244
|
|
Y2H; IP/WB
|
Battle MA , et al. 2003
|
| GPR21 |
Probable G-protein coupled receptor 21 |
|
2844
|
Q99679
|
|
IP; LC-MS/MS
|
Huttlin EL , et al. 2015
|
| HLA-DQA1 |
HLA class II histocompatibility antigen, DQ alpha 1 chain |
|
|
E9PMV2
|
|
IP; LC-MS/MS
|
Huttlin EL , et al. 2015
|
| HTR3A |
5-hydroxytryptamine receptor 3A |
|
3359
|
P46098-2
|
|
IP; LC-MS/MS
|
Huttlin EL , et al. 2015
|
| ITGB1BP3 |
integrin beta 1 binding protein 3 |
|
27231
|
Q9NPI5
|
|
Y2H; IP/WB
|
Battle MA , et al. 2003
|
| LRRN1 |
Leucine-rich repeat neuronal protein 1 |
|
57633
|
Q6UXK5
|
|
IP; LC-MS/MS
|
Huttlin EL , et al. 2015
|
| MYOT |
myotilin |
|
9499
|
Q9UBF9
|
|
Y2H
|
Battle MA , et al. 2003
|
| PCDHB11 |
Protocadherin beta-11 |
|
56125
|
Q9Y5F2
|
|
IP; LC-MS/MS
|
Huttlin EL , et al. 2015
|
| PCDHB16 |
Protocadherin beta-16 |
|
57717
|
Q9NRJ7
|
|
IP; LC-MS/MS
|
Huttlin EL , et al. 2015
|
| POLR2E |
polymerase (RNA) II (DNA directed) polypeptide E, 25kDa |
|
5434
|
P19388
|
|
IP; LC-MS/MS
|
Huttlin EL , et al. 2015
|
| RNF19B |
ring finger protein 19B |
|
127544
|
E9PAW6
|
|
IP; LC-MS/MS
|
Huttlin EL , et al. 2015
|
| SNAPIN |
SNAP-associated protein |
|
23557
|
O95295
|
|
Y2H
|
Battle MA , et al. 2003
|
| ZFYVE9 |
zinc finger, FYVE domain containing 9 |
|
9372
|
O95405
|
|
Y2H; IP/WB
|
Battle MA , et al. 2003
|
| ZNRF4 |
Zinc/RING finger protein 4 |
|
148066
|
Q8WWF5
|
|
IP; LC-MS/MS
|
Huttlin EL , et al. 2015
|
| Rbfox1 |
RNA binding protein, fox-1 homolog (C. elegans) 1 |
|
268859
|
Q9JJ43
|
|
HITS-CLIP
|
Weyn-Vanhentenryck SM , et al. 2014
|
|
