| Type | Description |
|---|---|
| Definition | dachsous cadherin-related 1 |
| Date | Results | Publications |
|---|---|---|
| 2020-07-11 11:46:00 | Fat4 and Dchs1 mutants mimic the craniofacial phenotype of the human Van Maldergem syndrome and Dchs1-Fat4 signalling is essential for osteoblast differentiation. | 31358536 |
| 2018-09-22 10:10:00 | p.R2330C and p.R2513H were not identified in this cohort. found eight missense variants including six considered deleterious. This includes one novel variant (p.A2464P) and two rare variants (p.R2770Q and p.R2462Q). These variants are predicted to be deleterious with combined annotation-dependent depletion (CADD) scores greater than 25, which are in the same range as p.R2330C (CADD = 28.0) and p.R2513H (CADD = 24.3). | 29224215 |
| 2018-09-08 11:30:00 | The infant was diagnosed with van Maldergem syndrome on the basis of the clinical features and this was subsequently confirmed with genetic analysis, which indicated a homozygous mutation (c.7204G>A p. D2402N ) in the DCHS1 gene | 29505454 |
| 2017-09-23 11:43:00 | Study shows that when key regulators during mammalian cerebral cortical development are disrupted due to DCHS1-FAT4 mutations, functional cerebral asymmetries are stronger. | 25930014 |
| 2017-05-06 12:09:00 | In sum, we establish Dchs1 as a component of the membrane domain surrounding the ciliary base. This suggests a specific role of Dchs1 in PCP-dependent organization of ciliary function and a possible role in lung disease. | 27074579 |
| Type | IDs |
|---|---|
| Synonymous | CDH19, CDH25, CDHR6, FIB1, MVP2, PCDH16, VMLDS1 |
| Gene |
UniProtKB-ID:
PCD16_HUMAN
UniprotKB:
Q96JQ0
UniParc:
UPI00001313B6
EMBL:
AB053446,
AB000895
Ensembl:
ENSG00000166341
KO:
hsa:8642
|
| Nucleutide sequences |
EMBL-CDS:
BAA21133.1,
BAB61903.2
Ensembl_TRS:
ENST00000299441
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000299441
RefSeq:
NP_003728.1
|
| Others |
UniRef100:
UniRef100_Q96JQ0
UniRef90:
UniRef90_E9PVD3
UniRef50:
UniRef50_E9PVD3
UniGene:
Hs.199850
CCDS:
CCDS7771.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Location | {{protein.contigId}} ( {{protein.positionStart}}..{{protein.positionEnd}} , {{protein.orientation}} ) | |||||||
| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
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