| Type | Description |
|---|---|
| Definition | KIAA1109 |
| Date | Results | Publications |
|---|---|---|
| 2021-02-13 13:29:00 | Prenatal cerebral imaging features of a new syndromic entity related to KIAA1109 pathogenic variants mimicking tubulinopathy. | 31736083 |
| 2020-10-31 13:17:00 | KIAA1109 gene mutation in surviving patients with Alkuraya-Kucinskas syndrome: a review of literature. | 32590954 |
| 2019-08-17 10:05:00 | KIAA1109 has an association with susceptibility to the development of moderate-to-severe asthma. | 30552067 |
| 2018-12-22 11:33:00 | Whole-exome and targeted sequencing of 13 individuals from 10 unrelated families with overlapping clinical manifestations identified loss-of-function and missense variants in KIAA1109 allowing delineation of an autosomal-recessive multi-system syndrome. | 29290337 |
| 2015-06-27 13:40:00 | Polymorphisms from the KIAA1109-interleukin 2 (IL2)-IL21 block in the 4q27 chromosome may contribute to the genetic susceptibility of ADs in the Tunisian population. | 25037274 |
| Type | IDs |
|---|---|
| Synonymous | ALKKUCS, FSA, Tweek |
| Gene |
UniProtKB-ID:
K1109_HUMAN
UniprotKB:
Q2LD37
UniParc:
UPI0001AE79D2,
UPI0001EC964B,
UPI0000DD87B4,
UPI0000E091B0,
UPI0001AE79D5,
UPI0001AE7549
EMBL:
BC108274,
AB037792,
AL137384,
AL137254,
AK025057,
BC045783,
AC104658,
CR936613,
BC018094,
AC127089,
AL137532,
AK127686,
AB029032,
AC022489,
AK124902,
DQ335469
Ensembl:
ENSG00000138688
KO:
hsa:84162
|
| Nucleutide sequences |
EMBL-CDS:
BAC87084.1,
AAI08275.1,
BAC85988.1,
BAA92609.1,
AAY41044.1,
CAB70656.1,
ABC59821.1,
BAB15057.1,
CAB70718.1,
AAH18094.2,
AAH45783.1,
CAB70795.1,
CAI56756.1,
BAA83061.2
Ensembl_TRS:
ENST00000388738,
ENST00000264501
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000373390,
ENSP00000264501
RefSeq:
XP_016864186.1,
XP_016864187.1,
XP_016864184.1,
NP_056127.2,
XP_011530627.1,
XP_016864188.1,
XP_011530629.1,
XP_011530625.1,
XP_024310011.1,
XP_016864185.1,
XP_011530628.1,
XP_006714407.1,
NP_001371054.1,
XP_011530624.1,
XP_005263344.1,
XP_011530626.1,
XP_011530622.1,
XP_011530623.1,
XP_005263339.1,
XP_011530632.1
|
| Others |
UniRef100:
UniRef100_Q2LD37
UniRef90:
UniRef90_Q2LD37
UniRef50:
UniRef50_Q2LD37
UniGene:
Hs.408142
CCDS:
CCDS43267.1
|
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|---|---|---|---|---|---|---|---|---|
| Refseq |
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