| Type | Description |
|---|---|
| Definition | sterile alpha motif domain containing 9 like |
| Date | Results | Publications |
|---|---|---|
| 2021-03-28 19:05:00 | Prevalence of germline GATA2 and SAMD9/9L variants in paediatric haematological disorders with monosomy 7. | 32770553 |
| 2021-01-09 13:25:00 | Identification of SAMD9L as a susceptibility locus for intravenous immunoglobulin resistance in Kawasaki disease by genome-wide association analysis. | 30971808 |
| 2020-06-06 12:45:00 | Germline SAMD9L mutation is associated with ataxia-pancytopenia syndrome and pediatric acute lymphoblastic leukemia. | 30923096 |
| 2019-08-03 10:15:00 | SAMD9 and SAMD9L germline loss-of-function variants exist in 3% of adult myelodysplastic syndromes and are located more in the N terminus relative to pediatric germline loss-of-function variants, which exist more in the C terminus. | 30322869 |
| 2019-03-16 10:19:00 | REVIEW: expert-based recommendations regarding diagnosis, follow-up, and treatment of mutation carriers. | 29535429 |
| Type | IDs |
|---|---|
| Synonymous | ATXPC, C7orf6, DRIF2, UEF1 |
| Gene |
UniProtKB-ID:
SAM9L_HUMAN
UniprotKB:
Q8IVG5
UniParc:
UPI000067C9DB,
UPI000020F567
EMBL:
AY195586,
AY195584,
AY195588,
AY195582,
AB095926,
AF474973,
AK097204,
AY195585,
BC029108,
BC038974,
BC127117,
CH471091,
DQ068177,
AL834232,
AY195583,
CH236949,
BC127118
Ensembl:
ENSG00000177409
KO:
hsa:219285
|
| Nucleutide sequences |
EMBL-CDS:
BAC04975.1,
AAQ05771.1,
AAP57714.1,
AAP57713.1,
AAH29108.1,
CAD38910.1,
EAW76825.1,
AAP57711.1,
AAP57712.1,
AAY98793.1,
EAW76824.1,
AAP57709.1,
AAI27118.1,
AAP57710.1,
BAC23102.1,
EAL24144.1,
AAH38974.1,
AAI27119.1
Ensembl_TRS:
ENST00000437805,
ENST00000318238,
ENST00000411955,
ENST00000610760
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000484397,
ENSP00000408796,
ENSP00000405760,
ENSP00000326247
RefSeq:
NP_001290425.1,
NP_001337012.1,
NP_001290427.1,
NP_001337011.1,
NP_001337013.1,
NP_001290429.1,
NP_689916.2,
NP_001337014.1,
NP_001290426.1
|
| Others |
UniRef100:
UniRef100_Q8IVG5
UniRef90:
UniRef90_Q8IVG5
UniRef50:
UniRef50_Q5K651
UniGene:
Hs.489118
CCDS:
CCDS34681.1
|
| {{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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