| Type | Description |
|---|---|
| Definition | cysteine rich with EGF like domains 1 |
| Date | Results | Publications |
|---|---|---|
| 2017-11-18 12:40:00 | The CRELD1 gene is likely to have a major role in causation of AVSD phenotype in selected DS patients. | 29054759 |
| 2015-12-19 10:06:00 | Germline mutations in the NKX2-5, GATA4, and CRELD1 genes do not appear to be associated with CHD in Mexican DS patients. | 25524324 |
| 2014-08-09 12:29:00 | Mutation of the CRELD1 gene increased the risk for atrioventricular septal defect. | 24927998 |
| 2013-06-22 10:37:00 | we identified two CRELD1 haplotypes associated with AVSD phenotype among DS and euploid individuals. | 22987595 |
| 2012-11-17 11:11:00 | study indicates that deleterious CRELD1 missense mutations are specifically associated with AVSD and are not correlated with other aspects of the heterotaxy phenotype | 22740159 |
| Type | IDs |
|---|---|
| Synonymous | AVSD2, CIRRIN |
| Gene |
UniProtKB-ID:
CREL1_HUMAN,
A0A024R2G1_HUMAN
UniprotKB:
Q96HD1,
A0A024R2G1
UniParc:
UPI000049DF8B,
UPI000013E2E5,
UPI0000034CB2
EMBL:
AF452623,
CH471055,
AK314113,
BC008720,
AY358363,
AC018809,
AL050275,
CR457380
Ensembl:
ENSG00000163703
KO:
hsa:78987
|
| Nucleutide sequences |
EMBL-CDS:
BAG36806.1,
AAM75206.1,
CAG33661.1,
CAB43376.1,
AAQ88729.1,
AAH08720.1,
EAW64039.1,
EAW64035.1,
EAW64043.1
Gene_ORFName:
UNQ188/PRO214,
hCG_2039468
Ensembl_TRS:
ENST00000452070,
ENST00000397170,
ENST00000383811,
ENST00000326434
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000380355,
ENSP00000393643,
ENSP00000321856,
ENSP00000373322
RefSeq:
NP_056328.3,
XP_011532410.1,
NP_001361249.1,
NP_001070883.2,
NP_001361247.1,
NP_001361246.1,
NP_001026887.2,
NP_001361248.1,
NP_001361245.1
|
| Others |
UniRef100:
UniRef100_Q96HD1,
UniRef100_A0A024R2G1
UniRef90:
UniRef90_Q96HD1,
UniRef90_Q91XD7
UniRef50:
UniRef50_Q96HD1,
UniRef50_Q91XD7
UniGene:
Hs.9383
CCDS:
CCDS2593.1,
CCDS33693.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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