| Type | Description |
|---|---|
| Definition | sterile alpha motif domain containing 9 |
| 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 |
| 2020-08-01 11:04:00 | In trans early mosaic mutational escape and novel phenotypic features of germline SAMD9 mutation. | 31900929 |
| 2019-12-21 10:49:00 | A novel SAMD9 variant identified in patient with syndrome: Further defining syndromic phenotype and review of previous cases. | 30900330 |
| 2019-11-23 13:08:00 | Somatic mosaic monosomy 7 and UPD7q in a child with syndrome caused by a novel SAMD9 mutation. | 30565860 |
| 2019-09-14 11:47:00 | Acquisition of a somatic nonsense SAMD9 mutation in the cells of the haematopoietic system might revert the cellular growth repression caused by the germline SAMD9 mutations (ie, second-site reversion mutations). Unexpected lack of haematological features in the two patients would be explained by the reversion mutations. | 29175836 |
| Type | IDs |
|---|---|
| Synonymous | C7orf5, DRIF1, MIRAGE, NFTC, OEF1, OEF2 |
| Gene |
UniProtKB-ID:
SAMD9_HUMAN
UniprotKB:
Q5K651
UniParc:
UPI0000038BC6
EMBL:
BC065769,
AF445355,
AK000080,
CH471091,
CH236949,
BC132773,
BC150249,
AF453311,
AC000119,
AB095925,
BC132775
Ensembl:
ENSG00000205413
KO:
hsa:54809
|
| Nucleutide sequences |
EMBL-CDS:
EAL24145.1,
AAI50250.1,
AAQ04689.3,
AAI32774.1,
BAC23101.1,
AAI32776.1,
AAQ96842.1,
BAA90932.1,
AAQ04637.1,
AAH65769.1,
EAW76826.1
Ensembl_TRS:
ENST00000379958,
ENST00000620985
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000484636,
ENSP00000369292
RefSeq:
NP_001180236.1,
NP_060124.2
|
| Others |
UniRef100:
UniRef100_Q5K651
UniRef90:
UniRef90_Q5K651
UniRef50:
UniRef50_Q5K651
UniGene:
Hs.65641
CCDS:
CCDS34680.1
|
| {{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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