| Type | Description |
|---|---|
| Definition | KAT8 regulatory NSL complex subunit 1 |
| Date | Results | Publications |
|---|---|---|
| 2018-12-22 11:22:00 | These results show that a KANSL1 microduplication, in combination with the 22q11.2 deletion, is associated with increased risk of CHD in these patients, suggesting that KANSL1 plays a role as a modifier gene in 22q11.2DS patients. | 28496102 |
| 2018-03-03 10:37:00 | One variant, p.Lys104Thr, was predicted damaging and appeared overrepresented in our 90-patient cohort compared to Genome Aggregation Database allele frequency (0.217 to 0.116). However, there was no difference in p.Lys104Thr allele frequency in the follow-up childhood epilepsy with centrotemporal spikes (CECTS) and atypical childhood epilepsy with centrotemporal spikes (ACECTS) cohort and controls. | 29352316 |
| 2017-10-21 12:14:00 | This case expands the mild end of the neurodevelopmental spectrum seen in children with de novo KANSL1 mutation and KdVS. | 28211987 |
| 2016-09-17 11:57:00 | In KANSL1 haploinsufficiency syndrome, chromosome deletions are greatly prevalent compared with KANSL1 mutations. | 26424144 |
| 2016-05-14 12:17:00 | essential for mitotic spindle assembly and chromosome segregation | 26243146 |
| Type | IDs |
|---|---|
| Synonymous | CENP-36, KDVS, KIAA1267, MSL1v1, NSL1, hMSL1v1 |
| Gene |
UniProtKB-ID:
KANL1_HUMAN,
A0A024R9Y2_HUMAN,
A0A1W2PRB5_HUMAN
UniprotKB:
Q7Z3B3,
A0A024R9Y2,
A0A1W2PRB5
UniParc:
UPI0003EAFBAB,
UPI00020B16E9,
UPI000013F4F1,
UPI000013D2AE,
UPI0001AE66EA
EMBL:
BC035892,
AL117476,
BX538006,
BX648760,
AB033093,
AK094946,
KF495991,
AL137317,
BC098376,
AC217773,
AK291259,
CR936218,
CH471233
Ensembl:
ENSG00000120071
KO:
hsa:284058
|
| Nucleutide sequences |
EMBL-CDS:
AAH35892.1,
CAB70694.1,
AAH98376.1,
CAD97958.1,
CAB55949.1,
BAG52961.1,
BAA86581.1,
BAF83948.1,
CAH10565.1,
EAW93576.1,
EAW93577.1
Gene_ORFName:
hCG_28514
Ensembl_TRS:
ENST00000572904,
ENST00000432791,
ENST00000574590,
ENST00000262419,
ENST00000638275,
ENST00000575318
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000387393,
ENSP00000461812,
ENSP00000262419,
ENSP00000461484,
ENSP00000492576,
ENSP00000461299
RefSeq:
NP_001180395.1,
XP_011522933.1,
XP_016879977.1,
NP_001180394.1,
XP_011522931.1,
XP_011522932.1,
XP_011522934.1,
NP_056258.1,
XP_011522930.1,
XP_006721887.1,
NP_001366127.1,
XP_016879978.1
|
| Others |
UniRef100:
UniRef100_A0A1W2PRB5,
UniRef100_Q7Z3B3,
UniRef100_A0A024R9Y2
UniRef90:
UniRef90_Q7Z3B3,
UniRef90_A0A1W2PRB5
UniRef50:
UniRef50_Q7Z3B3
UniGene:
Hs.648744
CCDS:
CCDS11503.2
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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