| Type | Description |
|---|---|
| Definition | lysosomal trafficking regulator |
| Date | Results | Publications |
|---|---|---|
| 2020-03-07 12:02:00 | A compound heterozygote in LYST gene, consisting of a missense mutation c.5719A > G and an intron mutation c.4863-4G > A, was identified from the patient by using amplicon sequencing. The missense mutation is reported for the first time. | 31906877 |
| 2020-02-22 12:09:00 | LYST mutation was found in a family | 31795567 |
| 2018-08-25 11:06:00 | homozygous c.6077_6078insA (p.Tyr2026Terfs) mutation was detected in the LYST gene in both patients | 29652989 |
| 2018-03-03 11:51:00 | LYST mutations in sporadic chordoma | 29026114 |
| 2017-10-07 10:15:00 | Pathway analysis of the genes associated with the 46 CpG sites revealed an enrichment of immune system process genes, including LYST (cg16962115, FDR = 1.24E-04), CADM1 (cg21933078, FDR = 1.22E-02) and NFATC1 (cg06784563, FDR = 1.46E-02) | 28637314 |
| Type | IDs |
|---|---|
| Synonymous | CHS, CHS1 |
| Gene |
UniProtKB-ID:
LYST_HUMAN
UniprotKB:
Q99698
UniParc:
UPI000002AD7D,
UPI000002AD7C,
UPI000020509E
EMBL:
U67615,
AL390765,
U70064,
AL121997,
L77889,
U84744,
U72192
Ensembl:
ENSG00000143669
KO:
hsa:1130
|
| Nucleutide sequences |
EMBL-CDS:
AAB41309.1,
AAB39697.1,
AAB87737.1,
AAB41533.1,
AAB51608.1
Ensembl_TRS:
ENST00000389793
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000374443
RefSeq:
XP_011542333.1,
XP_011542335.1,
NP_001288294.1,
XP_011542338.1,
XP_011542336.1,
XP_011542339.1,
NP_000072.2,
XP_011542337.1,
XP_011542341.1,
XP_016855639.1,
XP_016855640.1,
XP_011542334.1
|
| Others |
UniRef100:
UniRef100_Q99698
UniRef90:
UniRef90_Q99698
UniRef50:
UniRef50_Q99698
UniGene:
Hs.532411
CCDS:
CCDS31062.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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