| Type | Description |
|---|---|
| Definition | contactin 6 |
| Date | Results | Publications |
|---|---|---|
| 2020-10-03 12:50:00 | CNTN6 copy number variations: Uncertain clinical significance in individuals with neurodevelopmental disorders. | 30836150 |
| 2019-02-02 10:38:00 | this study describes of 2 boys with intellectual disability, attention-deficit hyperactivity disorder harboring a 3p26.3 microdeletion and a 3p26.3 microduplication, which are both paternally inherited and include only the CNTN6 gene. | 30508811 |
| 2017-10-14 10:50:00 | Clinical investigations of the patients carrying CNTN5 or CNTN6 variants showed that they were hypersensitive to sounds (a condition called hyperacusis) and displayed changes in wave latency within the auditory pathway. | 27166760 |
| 2017-08-05 10:10:00 | CNTN6 copy number variants (duplications) were associated with increased risk of Tourette syndrome. | 28641109 |
| 2010-12-05 22:08:00 | Observational study and genome-wide association study of gene-disease association. (HuGE Navigator) | 21079607 |
| Type | IDs |
|---|---|
| Synonymous | NB3 |
| Gene |
UniProtKB-ID:
CNTN6_HUMAN,
B4DGV0_HUMAN,
A1LMA8_HUMAN
UniprotKB:
Q9UQ52,
B4DGV0,
A1LMA8
UniParc:
UPI00017A6E96,
UPI0000072430
EMBL:
AK294786,
CH471055,
BC113118,
AB003592
Ensembl:
ENSG00000134115
KO:
hsa:27255
|
| Nucleutide sequences |
EMBL-CDS:
BAA82612.1,
AAI13119.1,
BAG57911.1,
EAW63872.1,
EAW63871.1
Gene_ORFName:
hCG_40124
Ensembl_TRS:
ENST00000446702,
ENST00000350110
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000407822,
ENSP00000341882
RefSeq:
NP_001336280.1,
XP_011531892.1,
NP_001276010.1,
NP_001336285.1,
XP_016861661.1,
NP_001336284.1,
NP_055276.1,
NP_001336279.1,
NP_001336283.1,
NP_001336286.1,
NP_001336290.1,
NP_001336288.1,
NP_001336291.1,
XP_016861660.1,
NP_001276009.1,
NP_001336287.1,
NP_001336281.1,
XP_016861663.1,
NP_001336289.1,
NP_001336282.1,
XP_016861666.1,
XP_011531893.1
|
| Others |
UniRef100:
UniRef100_Q9UQ52,
UniRef100_B4DGV0
UniRef90:
UniRef90_F1MXS0,
UniRef90_Q9UQ52
UniRef50:
UniRef50_Q9JMB8
UniGene:
Hs.387300
CCDS:
CCDS2557.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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